Category Archive Health A – Z

Occupational Therapy (OT) is the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or occupations, of individuals, groups, or communities. It is an allied health profession performed by occupational therapists. OTs often work with people with mental health problems, disabilities, injuries, or impairments.

The American Occupational Therapy Association defines an occupational therapist as someone who “helps people across the lifespan participate in the things they want and need to do through the therapeutic use of everyday activities (occupations). Common occupational therapy interventions include helping children with disabilities to participate fully in school and social situations, injury rehabilitation, and providing supports for older adults experiencing physical and cognitive changes.

Types of Occupational Therapy

The American Occupational Therapy Association’s practice framework identifies the following Occupations:

• Activities of daily living (ADLs)
  • Bathing, showering, Toileting and toilet hygiene, Dressing, Feeding, Functional mobility/transfers, Personal device care, Personal hygiene and grooming
• Instrumental activities of daily living (IADLs)
  • Care of others, Care of pets, Child rearing, Communication management, Driving and community mobility, Financial management, Health management and maintenance, Home establishment and managements, Meal preparation and cleanup, Medication management, Religious and spiritual activities and expression, Safety and emergency maintenance, Shopping
• Rest and sleep
  • Rest, Sleep preparation, Sleep participation
• Education
• Work
  • Employment interests and pursuits, Employment seeking and acquisition, Job performance, Retirement preparation and adjustment, Volunteer exploration, Volunteer participation
• Play
  • Play exploration, Play participation
• Leisure
  • Leisure exploration, Leisure participation
• Social participation
  • Community, Family, Peer, friend

Indications of Occupational Therapy

According to the AOTA, kids with these medical problems might benefit from OT:

• birth injuries or birth defects
• sensory processing disorders
• traumatic injuries (brain or spinal cord)
• learning problems
• autism/pervasive developmental disorders
• juvenile rheumatoid arthritis
• mental health or behavioral problems
• broken bones or other orthopedic injuries
• developmental delays
• post-surgical conditions
• burns
• spina bifida
• traumatic amputations
• cancer
• severe hand injuries
• multiple sclerosis, cerebral palsy, and other chronic illnesses

Occupational therapists might

• help kids work on fine motor skills so they can grasp and release toys and develop good handwriting skills
• address hand–eye coordination to improve kids’ play and school skills (hitting a target, batting a ball, copying from a blackboard, etc.)
• help kids with severe developmental delays learn basic tasks (such as bathing, getting dressed, brushing their teeth, and feeding themselves)
• help kids with behavioral disorders maintain positive behaviors in all environments (e.g., instead of hitting others or acting out, using positive ways to deal with anger, such as writing about feelings or participating in a physical activity)
• teach kids with physical disabilities the coordination skills needed to feed themselves, use a computer, or increase the speed and legibility of their handwriting
• evaluate a child’s need for specialized equipment, such as wheelchairs, splints, bathing equipment, dressing devices, or communication aids
• work with kids who have sensory and attentional issues to improve focus and social skills

Practice settings of Occupational Therapy

Occupational therapists work in a wide variety of practice settings, including: hospitals, long-term care facilities, schools, outpatient clinics, and the community (e.g. home care). The Canadian Institute for Health Information (CIHI) found that between 2006-2010 nearly half (45.6%) of occupational therapists worked in hospitals, 31.8% worked in the community, and 11.4% worked in a professional practice.

Areas of Practice of Occupational Therapy

The broad spectrum of OT practice makes it difficult to categorize the areas of practice, especially considering the differing health care systems globally. In this section, the categorization from the American Occupational Therapy Association is used.

Children and youth

In 1951, Joan Erikson became director of activities for the “severely disturbed children and young adults” at the Austen Riggs Center. At that time, “occupational therapy” was used “for keeping patients busy on useless tasks.” Erikson “brought in painters, sculptors, dancers, weavers, potters and others to create a program that provided real therapy.”

Occupational therapists work with infants, toddlers, children, and youth and their families in a variety of settings including schools, clinics, and homes. Occupational therapists assist children and their caregivers to build skills that enable them to participate in meaningful occupations. These occupations may include: feeding, playing, socializing, and attending school.

Occupational therapy with children and youth may take a variety of forms. For example:

• Promoting a wellness program in schools to prevent childhood obesity
• Facilitating handwriting development in school-aged children
• Providing individualized treatment for sensory processing difficulties
• Teaching coping skills to a child with generalized anxiety disorder

Health and wellness

The practice area of Health and Wellness is emerging steadily due to the increasing need for wellness-related services in occupational therapy. A connection between wellness and physical health, as well as mental health, has been found; consequently, helping to improve the physical and mental health of clients can lead to an increase in overall well-being.

As a practice area, health and wellness can include a focus on

• Prevention of disease and injury
• Prevention of secondary conditions (co-morbidity)
• Promotion of the well-being of those with chronic illnesses e.g. sexual rehabilitation
• Reduction of health care disparities or inequalities
• Enhancement of factors that impact quality of life
• Promotion of healthy living practices, social participation, and occupational justice

Mental health

Mental health and the moral treatment era have been recognized as the root of occupational therapy. According to the World Health Organization, mental illness is one of the fastest growing forms of disability. OTs focus on prevention and treatment of mental illness in all populations.In the U.S., military personnel and veterans are populations that can benefit from occupational therapy, but currently this is an under served practice area.

Mental health illnesses that may require occupational therapy include schizophrenia and other psychotic disorders, depressive disorders, anxiety disorders, eating disorders, trauma- and stressor-related disorders (e.g. post traumatic stress disorder or acute stress disorder), obsessive-compulsive and related disorders such as hoarding, and neurodevelopmental disorders such as autism spectrum disorder, attention deficit/hyperactivity disorder and learning disorders.

Productive aging

Occupational therapists work with older adults to maintain independence, participate in meaningful activities, and live fulfilling lives. Some examples of areas that occupational therapists address with older adults are driving, aging in place, low vision, and dementia or Alzheimer’s Disease (AD).When addressing driving, driver evaluations are administered to determine if drivers are safe behind the wheel. To enable independence of older adults at home, occupational therapists perform falls risk assessments, assess clients functioning in their homes, and recommend specific home modifications. When addressing low vision, occupational therapists modify tasks and the environment.While working with individuals with AD, occupational therapists focus on maintaining quality of life, ensuring safety, and promoting independence.

Adult Rehabilitation

Occupational therapists address the need for rehabilitation following an injury or impairment. When planning treatment, occupational therapists address the physical, cognitive, psychosocial, and environmental needs involved in adult populations across a variety of settings.

Occupational therapy in adult rehabilitation may take a variety of forms

• Working with adults with autism at day rehabilitation programs to promote successful relationships and community participation through instruction on social skills
• Increasing the quality of life for an individual with cancer by engaging them in occupations that are meaningful, providing anxiety and stress reduction methods, and suggesting fatigue management strategies
• Coaching individuals with hand amputations how to put on and take off a myoelectrically controlled limb as well as training for functional use of the limb
• As for paraplegics, there are such things as sitting cushion and pressure sore prevention. Presciption of these aids is the common job for paraplegics.

• Using and implementing new technology such as speech to text software and Nintendo Wii video games
• Communicating via telehealth methods as a service delivery model for clients who live in rural areas
• Working with adults who have had a stroke to regain strength, endurance, and range of motion on their affected side.

Travel occupational therapy

Because of the rising need for occupational therapists in the U.S.,many facilities are opting for travel occupational therapists—who are willing to travel, often out of state, to work temporarily in a facility. Assignments can range from 8 weeks to 9 months, but typically last 13–26 weeks in length. Most commonly (43%), travel occupational therapists enter the industry between the ages of 21–30.

Work and industry

Occupational therapists work with clients who have had an injury and are returning to work. OTs perform assessments to simulate work tasks in order to determine best matches for work, accommodations needed at work, or the level of disability. Work conditioning and work hardening are interventions used to restore job skills that may have changed due to an illness or injury. Occupational therapists can also prevent work related injuries through ergonomics and on site work evaluations.

Education

Worldwide, there is a range of qualifications required to practice occupational therapy. Many countries require a bachelor’s degree (e.g. Australia). In the United States and Canada, a master’s degree is required to practice. In Europe, a bachelor’s degree or a master’s degree is accepted.

The OT curriculum focuses on the theoretical basis of occupation and the clinical skills require to practice occupational therapy. Students must have knowledge of physiology, anatomy, medicine, psychology, and neurology to understand interventions and their client’s medical history. All OT education programs include periods of clinical education, consisting of direct work with a practicing OT.In countries such as Canada and the United States, OT students must pass a national qualifying examination in order to practice.

Theoretical frameworks

Occupational therapists use theoretical frameworks to frame their practice. Note that terminology differs between scholars. An incomplete list of theoretical bases for framing a human and their occupations include the following:

Frames of reference and generic models

Frames of reference or generic models are the overarching title given to a collation of compatible knowledge, research and theories that form conceptual practice. More generally they are defined as “those aspects which influence our perceptions, decisions and practice”.

• Person Environment Occupation Performance Model
  • The Person Environment Occupation Performance model (PEOP) was originally published in 1991 (Charles Christiansen & M. Carolyn Baum) and describes an individual’s performance based on four elements including: environment, person, performance and occupation. The model focuses on the interplay of these components and how this interaction works to inhibit or promote successful engagement in occupation.

Occupation-Focused Practice Models

• Occupational Therapy Intervention Process Model (OTIPM) (Anne Fisher and others)
• Occupational Performance Process Model (OPPM)
• Model of Human Occupation (MOHO) (Gary Kielhofner and others)
  • MOHO was first published in 1980. It explains how people select, organise and undertake occupations within their environment. The model is supported with evidence generated over thirty years and has been successfully applied throughout the world.
• Canadian Model of Occupational Performance and Engagement (CMOP-E)
• Occupational Performances Model – Australia (OPM-A) (Chris Chapparo & Judy Ranka)
  • The OPM(A) was conceptualized in 1986 with its current form launched in 2006. The OPM(A) illustrates the complexity of occupational performance, the scope of occupational therapy practice, and provides a framework for occupational therapy education.
• Kawa (River) Model (Michael Iwama)
• Biomechanical Frame of Reference
  • The Biomechanical Frame of Reference is primarily concerned with motion during occupation. It is used with individuals who experience limitations in movement, inadequate muscle strength or loss of endurance in occupations. The Frame of Reference was not originally compiled by Occupational Therapists, and therapists should translate it to the Occupational Therapy perspective, to avoid the risk of movement or exercise becoming the main focus.
• Rehabilitative (compensatory)
• Neurofunctional (Gordon Muir Giles and Clark-Wilson)
• Dynamic Systems Theory
• Client-Centered Frame of Reference
  • This Frame of Reference is developed from the work of Carl Rogers. It views the client as the center of all therapeutic activity, and the client’s needs and goals direct the delivery of the Occupational Therapy Process.
• Cognitive-Behavioural Frame of Reference
• Ecology of Human Performance Model
• The Recovery Model.

References

Manual Therapy is literally hands-on physical therapy. Manual treatment techniques are delivered with the hands of the therapist as opposed to a device or machine. Manual therapy is used to treat musculoskeletal pain and disability. Our therapists use their hands to manipulate the muscles and joints in an attempt to decrease pain caused by muscle spasm, muscle tension and joint dysfunction. Manual therapy treatments include soft tissue mobilization/massage, joint mobilization and manipulation, and mobilization of neural tissues with nerve glides. These manual therapy interventions are used to improve range of motion (ROM), reduce soft tissue inflammation, facilitate movement and improve function.

Types of Manual Therapy

The International Federation of Orthopaedic Manipulative Physical Therapists (IFOMPT) has offered the following definitions

• Massage – Pressure is applied to the soft tissues of the body, such as the muscles. Massage can help relax muscles, increase circulation, and ease pain in the soft tissues.
• Manipulation – A passive, high velocity, low amplitude thrust applied to a joint complex within its anatomical limit with the intent to restore optimal motion, function, and/ or to reduce pain.
• Mobilization – A manual therapy technique comprising a continuum of skilled passive movements to the joint complex that are applied at varying speeds and amplitudes, that may include a small-amplitude/ high velocity therapeutic movement (manipulation) with the intent to restore optimal motion, function, and/ or to reduce pain.

The terms “Thrust Manipulation” and “Non-Thrust Manipulation” have been used in the literature.  “Thrust Manipulation” is used to describe interventions described as Manipulation by IFOMPT, and “Non-Thrust Manipulation” would be synonymous with the term Mobilization as proposed by IFOMPT.

The American Academy of Orthopaedic Manual Physical Therapists (AAOMPT) has proposed the following framework for describing manipulative interventions.

Indications of Manual Therapy

Spine

• Pain radiating towards the extremities connected with irritation and compression of the nerve roots
• Pain originating from excessively tense muscles
• Pain caused by degenerative disease of the intervertebral discs
• Pain in the course of disc disease (damage, protruded / herniated intervertebral disc)
• Stiffness caused by contraction or blocking of intervertebral and sacroiliac joints
• Spine-related headaches, dizziness
• Asymmetrical posture
• Herniated disc
• Osteochondrosis, arthrosis;
• Intercostal neuralgia
• Frequent headaches
• Poor posture
• Pain and muscle tension;
• Impaired mobility of the internal organs;
• Scoliosis;
  · hernia;
  · Violation of posture;
  · Arthritis and arthrosis;
  · Neurological diseases;
  · Sciatica;
  · Flat feet;
  · Obesity;
  · Headaches and dizziness;
  · Diseases of the genitourinary system;
• Chronic fatigue.

Peripheral joints

• pain caused by muscle, attachment and tendon injuries
• conditions after injuries and after orthopedic procedures within the bones, joints, ligaments and muscles
• pain caused by arthrosis
• preparation for elective surgery and rehabilitation after treatment
• joint stiffness caused by immobilization or degeneration
• Increased / decreased tone of soft tissues that change the posture and overload other tissues

Contra Indications

• Unbearable pain (no possibility to perform the examination)
• Osteoporosis
• Blood clotting problems
• Skin lesions
• Severe internal medicine disorders
• Lack of cooperation on the patient’s side
• Acute inflammatory process
• Cancer
• Injuries, fractures, sprains in the phase of immobilization
• Capsular- articular instability
• Pathologies of the vertebrobasilar artery
• Ligamentous laxity of the cervical spine
• Symptoms of spinal cord compression
• Progressive muscle paralysis
• Pregnancy
• · Malignant tumors;
  · Osteoporosis;
  · Rheumatoid diseases;
  · Children’s pathologies;
  · Blood diseases;
  · A previous heart attack or stroke;
  · Failures in the cerebral circulation;
  · Mental disorders;

Procedure of appling technique & style

There are many different styles of manual therapy. It is a fundamental feature of ayurvedic medicine, traditional Chinese medicine and some forms of New Age alternative medicineas well as being used by mainstream medical practitioners. Hands-on bodywork is a feature of therapeutic interactions in traditional cultures around the world.

Methods of Treatments

At present, any qualified specialist can develop his own methodology and successfully apply it in practice. But there are basic directions of manual treatment, which have been used for quite a long time

• Subcutaneous myofascial therapy – Applying this method, you can find problem areas of the body, feel the seals and understand what pathology will have to work. This procedure will be effective in radiculitis, arthritis, arthrosis and vascular diseases. After several sessions, you can get rid of fatigue and feel the ease of movement, the disappearance of pain and straightening posture.
• Cranial Therapy – In the process of treatment, the muscles of the neck and the joints of the skull are affected. This allows you to eliminate the violations associated with the brain. After a course of procedures you can feel the clarity of thought, improving memory, lowering intracranial pressure and lack of tension in the neck. In addition, headaches and dizziness will disappear.
• Visceral therapy – This technique is aimed at improving the performance of internal organs. The liver, lungs, kidneys, heart, spleen, intestines and genitals will be grateful for this effect and improve their functioning.
• Arthroverbal therapy – The method is quite specific, and not everyone risks using it. But those who dare, received a long guarantee for life without pain in the back. Therapy is recommended to people with joint lesions in order to restore their working capacity. After the sessions, the stiffness in the movements gradually disappears, the spine is restored, the pain in the head and muscles disappear.

It is very important to understand that you can not prescribe yourself a Chiropractic & Manual Therapies. This is done only by a doctor. In addition, it is not recommended to run to the first counter specialist and trust him with his body. When choosing a chiropractor, do not hesitate to ask about his qualifications, permission to conduct similar procedures and experience. This will give guarantees that the specialist has professionalism, and he can be entrusted with his health.

Manual Physical Therapy is Less Established for Back Pain Management

While all physical therapists have the option to use manual therapy in their practices, many don’t spend the time or the resources to become efficient in this area of practice. Patients should be aware that it is a lesser known physical therapy technique among physicians and may not be as commonly prescribed. Also, many of the conditions that practitioners treat with manual therapy are not demonstrated with imaging or lab tests but rather during motion testing and treatment, and therefore insurance company reimbursement may be limited.

While patients may be referred for physical therapy treatment by their primary care doctor, an orthopedic surgeon, or other doctor involved in their back care, most states have direct access laws permitting patients to seek help for low back pain from a licensed physical therapist without having to seek a written referral.

Manual therapy for back pain relief

Manual therapy can be helpful for the treatment of joints that lack adequate mobility and range of motion in certain musculo-skeletal conditions. This limitation can cause discomfort, pain, and an alteration in function, posture, and movement. Manual physical therapy involves restoring mobility to stiff joints and reducing muscle tension in order to return the patient to more natural movement without pain. Thus, manual physical therapy may provide back pain relief both for patients with chronic back pain involving joint problems, such as sacroiliac joint dysfunction, and acute back pain from soft tissue injuries such as a back muscle strain or a pulled back ligament. Although extensive clinical studies have yet to be performed on all areas of manual therapy, limited clinical data and patient reports support the assertion that manual physical therapy can be effective in relieving back pain for certain patients.As a group, manual physical therapy techniques are aimed at relaxing tense back muscles and restricted joints in order to decrease back pain and increase flexibility. In general, manual physical therapy techniques employ the following types of movement.

• Soft tissue work – including massage, which applies pressure to the soft tissues of the body such as the muscles. This pressure can help relax muscles, increase circulation, break up scar tissue, and ease pain in the soft tissues.
• Mobilization/manipulation – which uses measured movements of varying speed (slow to fast), force (gentle to forceful), and distances (called ‘amplitude’) to twist, pull, or push bones and joints into position. This can help loosen tight tissues around a joint, reduce pain in a joint and surrounding tissue, and help with flexibility and alignment.

References

Lung / Pulmonary Function Test is a complete evaluation of the respiratory system including patient history, physical examinations, and tests of pulmonary function. The primary purpose of pulmonary function testing is to identify the severity of pulmonary impairment.Pulmonary function testing has diagnostic and therapeutic roles and helps clinicians answer some general questions about patients with lung disease. PFTs are normally performed by a respiratory therapist.

Types of Lung / Pulmonary Function Test

Spirometry

This is a very basic breathing test to assess the amount of air you inhale and exhale as a function of time. It also calculates the speed (flow) of air that can be inhaled or exhaled. The test itself involves normal and deep breaths as well as breathing out as hard as you can into a tube with a sensor for measurement.

Indications of Lung / Pulmonary Function Test

Pulmonary function testing is a diagnostic and management tool used for a variety of reasons, such as:

• Chronic shortness of breath
• Asthma
• Chronic obstructive pulmonary disease
• Restrictive lung disease
• Preoperative testing
• Impairment or disability
• Allergies
• Chronic bronchitis
• Respiratory infections
• Lung fibrosis
• Bronchiectasis, a condition in which the airways in the lungs stretch and widen
• COPD, which used to be called emphysema
• Asbestosis, a condition caused by exposure to asbestos
• Sarcoidosis, an inflammation of your lungs, liver, lymph nodes, eyes, skin, or other tissues
• Scleroderma, a disease that affects your connective tissue
• Pulmonary tumor
• Lung cancer
• Weaknesses of the chest wall muscles
• Measure the lungs ability to transfer oxygen into our blood stream and remove harmful gases, such as carbon dioxide
• Assess how medications might help with our breathing
• To assess how well our bodies will cope if we have to have a general anaesthetic for a major operation.

Procedure of Lung / Pulmonary Function Test

The spirometry test is a simple diagnostic test carried out using a spirometer. A person will breathe into the tube attached to the spirometer, which records the results.

The doctor will ask a person about any breathing medications they may be taking, including bronchodilators. Bronchodilators help to relax the airways, widening them and making breathing easier. A person may be asked to stop taking these before the test so that their effect on breathing can be tested.

A doctor may suggest a person wears loose clothing and does not eat a large meal before the test in order to help their breathing.

Those taking the test should also avoid:

• smoking within 24 hours of testing
• strenuous exercise
• consuming alcohol

The following steps take place during the procedure

1. A clip is placed on the nose to close the nostrils.
2. The person inhales as much air as they can to fill their lungs.
3. A person seals their lips tightly around the mouth of the tube.
4. They breath directly into the tube as quickly and forcefully as they can for several seconds.

The test is usually repeated at least three times to ensure a consistent and accurate result. The highest value from the three tests is normally used as the final result. The appointment may take 30-90 minutes.

The doctor may administer a bronchodilator that is inhaled, and then run the test again. This would measure the effect that a bronchodilator has on a person’s ability to breathe.

Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies there may be a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.

Anatomy of Hydrocephalus

Types of Hydrocephalus

The cause of hydrocephalus is not known with certainty and is probably multifactorial. It may be caused by impaired cerebrospinal fluid (CSF) flow, reabsorption, or excessive CSF production.

• Obstruction to CSF flow  – hinders the free passage of cerebrospinal fluid through the ventricular system and subarachnoid space (e.g., stenosis of the cerebral aqueduct or obstruction of the interventricular foramina) secondary to tumors, hemorrhages, infections or congenital malformations) and can cause increases in central nervous system pressure.
• Hydrocephalus – can also be caused by overproduction of cerebrospinal fluid (relative obstruction) (e.g., Choroid plexus papilloma, villous hypertrophy).
• Bilateral ureteric obstruction – is a rare, but reported, cause of hydrocephalus.
• Congenital hydrocephalus  – means the condition is present at birth, caused by a complex interaction of genetic and environmental factors during fetal development. Congenital hydrocephalus is now often diagnosed before birth through routine ultrasound.
• Compensated hydrocephalus –  is hydrocephalus that is diagnosed in adulthood, but may have existed since birth. It can still be considered congenital.
• Hydrocephalus ex – vacuo –This type occurs after stroke, traumatic brain injury, or degenerative diseases. As brain tissue shrinks, the ventricles of the brain become larger.
• Acquired hydrocephalus –  develops after birth as a result of neurological conditions such as head trauma, brain tumor, cyst, intraventricular hemorrhage or infection of the central nervous system.
• Normal pressure hydrocephalus occurs in older adults when the ventricles of the brain are enlarged, but there is little or no increase in the pressure within the ventricles. Sometimes the cause of NPH is known – but most often it is idiopathic, which means the cause is not known.
• Communicating – Communicating hydrocephalus, also known as non-obstructive hydrocephalus, is caused by impaired cerebrospinal fluid reabsorption in the absence of any CSF-flow obstruction between the ventricles and subarachnoid space. It has been theorized that this is due to functional impairment of the arachnoidal granulations (also called arachnoid granulations or Pacchioni’s granulations), which are located along the superior sagittal sinus and is the site of cerebrospinal fluid reabsorption back into the venous system. Various neurologic conditions may result in communicating hydrocephalus, including subarachnoid/intraventricular hemorrhage, meningitis and congenital absence of arachnoid villi. Scarring and fibrosis of the subarachnoid space following infectious, inflammatory, or hemorrhagic events can also prevent resorption of CSF, causing diffuse ventricular dilatation.

Non-communicating – Non-communicating hydrocephalus, or obstructive hydrocephalus, is caused by a CSF-flow obstruction.

• Foramen of Monro obstruction – may lead to dilation of one or, if large enough (e.g., in colloid cyst), both lateral ventricles.
• The aqueduct of Sylvius – normally narrow to begin with, may be obstructed by a number of genetically or acquired lesions (e.g., atresia, ependymitis, hemorrhage, tumor) and lead to dilation of both lateral ventricles as well as the third ventricle.
• Fourth ventricle obstruction – will lead to dilatation of the aqueduct as well as the lateral and third ventricles (e.g., Chiari malformation).
• The foramina of Luschka and foramen of Magendie – may be obstructed due to congenital malformation (e.g., Dandy-Walker malformation).

Others

• Normal pressure hydrocephalus (NPH)  – is a particular form of chronic communicating hydrocephalus, characterized by enlarged cerebral ventricles, with only intermittently elevated cerebrospinal fluid pressure. Characteristic triad of symptoms are; dementia, apraxic gait and urinary incontinence. The diagnosis of NPH can be established only with the help of continuous intraventricular pressure recordings (over 24 hours or even longer), since more often than not instant measurements yield normal pressure values.
• Hydrocephalus ex vacuo  – also refers to an enlargement of cerebral ventricles and subarachnoid spaces, and is usually due to brain atrophy (as it occurs in dementias), post-traumatic brain injuries and even in some psychiatric disorders, such as schizophrenia. As opposed to hydrocephalus, this is a compensatory enlargement of the CSF-spaces in response to brain parenchyma loss – it is not the result of increased CSF pressure.

Causes of Hydrocephalus

• Aqueductal stenosis – The most common cause of congenital hydrocephalus is an obstruction called aqueductal stenosis. This occurs when the long, narrow passageway between the third and fourth ventricles (the aqueduct of Sylvius) is narrowed or blocked, perhaps because of infection, hemorrhage, or a tumor. Fluid accumulates “upstream” from the obstruction, producing hydrocephalus.
• Poor absorption. Less common is a problem with the mechanisms that enable the blood vessels to absorb cerebrospinal fluid. This is often related to inflammation of brain tissues from disease or injury.
• Overproduction. Rarely, cerebrospinal fluid is created more quickly than it can be absorbed.
• Neural tube defect – Another common cause of hydrocephalus is a neural tube defect (NTD). An open NTD, where the spinal cord is exposed at birth and is often leaking CSF, is called a myelomeningocele, and is often referred to as spina bifida. This kind of NTD usually leads to the Chiari II malformation, which causes part of the cerebellum and the fourth ventricle to push downward through the opening at the base of the skull into the spinal cord area, blocking CSF flow out of the fourth ventricle and causing hydrocephalus.
• Arachnoid cysts – Congenital hydrocephalus can also be caused by arachnoid cysts, which may occur anywhere in the brain. In children, they’re often located at the back of the brain (posterior fossa) and in the area of the third ventricle. These cysts are filled with CSF and lined with the arachnoid membrane, one of the three meningeal coverings. Some arachnoid cysts are self-contained, while others are connected with the ventricles or the subarachnoid space. The fluid trapped by the cysts may block the CSF pathways, causing hydrocephalus.
• Dandy-Walker syndrome – In Dandy-Walker syndrome, another cause of congenital hydrocephalus, the fourth ventricle becomes enlarged because its outlets are partly or completely closed and part of the cerebellum fails to develop. Dandy-Walker syndrome may also be associated with abnormal development in other parts of the brain and sometimes leads to aqueductal stenosis. In some instances, two shunts are placed in the child’s ventricles — one in the lateral ventricle and another in the fourth ventricle to manage the hydrocephalus.
• Chiari malformation – There are two types of Chiari malformation. Both types occur in the bottom of the brain stem where the brain and spinal cord join. The lowest portion of the brain is displaced and is lower than normal pushing down into the spinal column.
• Intraventricular hemorrhage – An intraventricular hemorrhage, which most frequently affects premature newborns, may cause an acquired form of hydrocephalus. When small blood vessels alongside the ventricular lining rupture, blood may block or scar the ventricles or plug the arachnoid villi, which allow CSF to be absorbed. When the CSF can’t be absorbed, hydrocephalus results.
• Meningitis – Meningitis is an inflammation of the membranes of the brain and spinal cord. Caused by a bacterial or (less frequently) viral infection, meningitis can scar the delicate membranes called meninges that line the CSF pathway. An acquired form of hydrocephalus may develop if this scarring obstructs the flow of CSF as it passes through the narrow ventricles or over the surfaces of the brain in the subarachnoid space.
• Head injury – A head injury can damage the brain’s tissues, nerves, or blood vessels. Blood from ruptured vessels may enter the CSF pathway, causing inflammation. Sites of CSF absorption might then be blocked by scarred membranes – meninges – or by blood cells. The CSF flow is restricted, and hydrocephalus develops.
• Brain tumors – In children, brain tumors most commonly occur in the back of the brain which is referred to as the posterior fossa. As a tumor grows, it may fill or compress the fourth ventricle, blocking the flow of CSF and causing hydrocephalus. A tumor somewhere else in the brain might also block or compress the ventricular system.
• Brain hemorrhage – bleeding inside the brain.
• Brain lesions – areas of injury or disease within the brain. There are many possible causes, including injury, infection, exposure to certain chemicals, or problems with the immune system.
• Meningitis – inflammation of the membranes of the brain or spinal cord.
• Stroke – a condition where a blood clot or ruptured artery or blood vessel interrupts blood flow to an area of the brain.

Symptoms of Hydrocephalus

 Early symptoms may also include

• Eyes that appear to gaze downward;
• Irritability;
• Seizures;
• Separated sutures;
• Sleepiness;
• Vomiting.

Symptoms of congenital hydrocephalus (present at birth):

• breathing difficulties
• arm and leg muscles may be stiff and prone to contractions
• some developmental stages may be delayed, such as sitting up or crawling
• the fontanel, the soft spot on the top of the head, is tense and bulges outward
• irritability, drowsiness, or both
• unwillingness to bend or move the neck or head
• poor feeding
• the head seems larger than it should be
• the scalp is thin and shiny and there may be visible veins on the scalp
• pupils of the eyes may be close to the bottom of the eyelid, sometimes known as “the setting sun”
• there may be a high-pitched cry
• possible seizures
• possible vomiting

Symptoms of acquired hydrocephalus, which develops after birth, are

• rarely, bowel incontinence
• confusion, disorientation, or both
• drowsiness and lethargy
• headaches
• irritability, which may get worse
• lack of appetite
• nausea
• central nervous system infections such as meningitis, especially in babies
• bleeding in the brain during or shortly after delivery, especially in babies born prematurely
• injuries that occur before, during, or after delivery
• head trauma
• central nervous system tumors
• personality changes
• problems with eyesight, such as blurred or double vision
• seizures or fits
• urinary incontinence
• vomiting
• walking difficulties, especially in adults

Symptoms of normal pressure hydrocephalus. Signs and symptoms may take many months or years to develop.

• Changes in gait – The person may feel as if they are frozen on the spot when taking their first step to start walking. They may appear to shuffle rather than walk.
• Normal thinking process slows down – The person may respond to questions more slowly than normal, there may be delayed reactions to situations. The individual’s ability to process information slows down.
• Urinary incontinence – This usually comes after changes in gait.

Symptoms that may occur in older children can include

• Brief, shrill, high-pitched cry;
• Changes in personality, memory, or the ability to reason or think;
• Changes in facial appearance and eye spacing;
• Crossed eyes or uncontrolled eye movements;
• Difficulty feeding;
• Excessive sleepiness;
• Headache;
• Irritability, poor temper control;
• Loss of bladder control (urinary incontinence);
• Loss of coordination and trouble walking;
• Muscle spasticity (spasm);
• Slow growth (child 0–5 years);
• Slow or restricted movement;
• Vomiting.

Older children

• short, high-pitched cries
• personality changes
• changes in facial structure
• crossed eyes
• headaches
• muscle spasms
• delayed growth
• trouble eating
• extreme sleepiness
• irritability
• loss of coordination
• loss of bladder control
• larger than normal head
• trouble staying awake or waking up
• vomiting or nausea
• seizures
• problems concentrating

Young and middle-aged adults

• chronic headaches
• loss of coordination
• difficulty walking
• bladder problems
• vision problems
• poor memory
• difficulty concentrating

Diagnosis of Hydrocephalus

Examination in infants may reveal the following findings:

• Head enlargement (head circumference ≥98th percentile for age), especially crossing percentiles on the growth chart
• Dysjunction/splaying of sutures
• Dilated scalp veins
• Tense/bulging fontanelle
• Setting-sun sign – Characteristic of increased intracranial pressure (ICP); downward deviation of the ocular globes, retracted upper lids, visible white sclerae above irises
• Increased limb tone (spasticity preferentially affecting the lower limbs)

Children and adults may demonstrate the following findings on physical examination

• Papilledema (optic nerve swelling) – although this does not develop acutely
• Failure of upward gaze – Due to pressure on the tectal plate through the suprapineal recess; the limitation of upward gaze is of supranuclear origin
• Unsteady gait
• Large head
• Unilateral or bilateral sixth nerve palsy (secondary to increased ICP)
• Children may also exhibit the Macewen sign, in which a “cracked pot” sound is noted on percussion of the head.

Patients with NPH may exhibit the following findings on examination

• Normal muscle strength – no sensory loss
• Increased reflexes and Babinski response in one or both feet – Search for vascular risk factors (causing associated brain microangiopathy or vascular Parkinsonism), which are common in NPH patients
• Variable difficulty in walking – May have mild imbalance to inability to walk or to stand; the classic gait impairment consists of short steps, wide base, externally rotated feet, and lack of festination (hastening of cadence with progressively shortening stride length, a hallmark of the gait impairment of Parkinson disease)
• Frontal release signs (in late stages) – Appearance of sucking and grasping reflexes

Testing of Hydrocephalus

No specific blood tests are recommended in the workup for hydrocephalus. However, consider genetic testing and counseling when X-linked hydrocephalus is suspected, and evaluate the CSF in posthemorrhagic and postmeningitic hydrocephalus for protein concentration and to exclude residual infection.Obtain electroencephalography in patients with seizures.

Imaging studies of Hydrocephalus

The following imaging studies may be used to evaluate patients with suspected hydrocephalus

• Computed tomography (CT) scanning – To assess size of ventricles and other structures
• Magnetic resonance imaging (MRI) – To assess for Chiari malformation or cerebellar or periaqueductal tumors
• Ultrasonography through anterior fontanelle in infants – To assess for subependymal and intraventricular hemorrhage; to follow infants for possible progressive hydrocephalus
• Skull radiography – To detect erosion of sella turcica, or “beaten copper cranium” (or “beaten silver cranium”)—the latter can also be seen in craniosynostosis; (after shunt insertion) to confirm correct positioning of installed hardware
• MRI cine – To measure CSF stroke volume (SV) in the cerebral aqueduct; however, such measurements don’t appear to be useful in predicting response to shunting
• Diffusion tensor imaging (DTI) – To detect differences in fractional anisotropy and mean diffusivity of the brain parenchyma surrounding the ventricles; allows recognition of microstructural changes in periventricular white matter region that may be too subtle on conventional MRI
• Radionuclide cisternography (in NPH) – To assess the prognosis with regard to possible shunting—however, due to its poor sensitivity in predicting shunt response when the ventricular to total intracranial activity (V/T) ratio is less than 32%, this test is no longer commonly used

Treatment of Hydrocephalus

Procedures to draw off fluid

The following are possible procedures

• A spinal tap – may be done if the opening between your baby’s ventricle and spinal cord is partially blocked. The blockage is often due to an intraventricular hemorrhage. The healthcare provider may also do a spinal tap if your baby’s body is making too much CSF. Your healthcare provider inserts a small needle into your baby’s back, into the fluid-filled space surrounding the spinal cord. Some CSF is drawn out with this needle. This may relieve some of the pressure on the ventricle, allowing the rest of the fluid to drain.
• A ventricular tap – may be done if the opening between the ventricle and spinal cord is completely blocked. The healthcare provider places a device similar to a rubber stopper into your baby’s skull. This allows access to the ventricle. A healthcare provider can then draw fluid out of the ventricle with a needle. This may be done as a temporary solution while waiting for the blockage to go away.
• A ventricular peritoneal (VP) shunt – is a tube that your healthcare provider places inside your baby’s brain. The tube is connected to a catheter (thin, flexible tube) that is tunneled through the body to the stomach. The shunt draws fluid off the brain. The fluid then travels through the catheter and drains into the stomach, where it is soaked up by the body. The shunt and catheter are enclosed under the skin. They can’t be seen from the outside. They’re permanent, but will need to be replaced as the baby grows.

Surgery of Hydrocephalus

• Ventriculoperitoneal (VP) –  shunt (most common)
• Ventriculoatrial – (VA) shunt (or “vascular shunt”)
• Lumboperitoneal shunt – Only used for communicating hydrocephalus, CSF fistula, or pseudotumor cerebri)
• Torkildsen shunt (rarely) – Effective only in acquired obstructive hydrocephalus (ventriculocisternostomy)
• Ventriculopleural shunt (second-line therapy)  Used if other shunt types contraindicated

Rapid-onset hydrocephalus with ICP is an emergency. The following procedures can be done, depending on each specific case:

• Ventricular tap in infants
• Open ventricular drainage in children and adults (EVD, external ventricular drain)
• Lumbar puncture (LP) in posthemorrhagic and postmeningitic hydrocephalus
• VP or VA shunt

Repeat LPs can be performed for cases of hydrocephalus after intraventricular hemorrhage (which can resolve spontaneously). If reabsorption does not resume when the CSF protein content is less than 100 mg/dL, spontaneous resorption is unlikely to occur. LPs can be performed only in cases of communicating hydrocephalus.

Alternatives to shunting include the following

• Choroid plexectomy or choroid plexus coagulation
• Opening of a stenosed aqueduct
• Endoscopic fenestration of the floor of the third ventricle (however, contraindicated in communicating hydrocephalus)

A care team for children may include a

• Pediatrician or physiatrist, who oversees the treatment plan and medical care
• Pediatric neurologist, who specializes in the diagnosis and treatment of neurological disorders in children
• Occupational therapist, who specializes in therapy to develop everyday skills
• Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
• Mental health provider, such as a psychologist or psychiatrist
• Social worker, who assists the family with accessing services and planning for transitions in care
• Special education teacher, who addresses learning disabilities, determines educational needs and identifies appropriate educational resources

References

Down syndrome is a chromosomal disorder caused when an error in cell division results in an extra 21st chromosome. Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability.The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.

Types of Down Syndrome

The most common form of Down syndrome is known as trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46.

Trisomy 21 – is caused by an error in cell division called nondisjunction. This leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. This variant accounts for 95 percent of Down syndrome cases.The remaining 5 percent of Down syndrome cases are due to conditions called mosaicism and translocation.

Mosaic Down syndrome – results when some cells in the body are normal while others have Trisomy 21.

Robertsonian translocation – occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome, usually chromosome 14. The presence of this extra part of chromosome 21 causes some Down syndrome characteristics.

Mosaicism – Mosaicism occurs when a child is born with an extra chromosome in some but not all of their cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.

Translocation – In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.

Causes

Down syndrome is a common genetic syndrome caused by having all or part of an extra chromosome 21.  The most common type of Down syndrome is also known as “Trisomy 21” due to the fact that there are three copies of this chromosome instead of the usual two.

• Normally, the mother’s egg and the father’s sperm each start out with 23 chromosomes. When the egg and sperm meet at conception, a child inherits 23 chromosomes from each parent, ending up with 23 pairs of chromosomes, and a total of 46 chromosomes.
• In Down syndrome, a change occurs during cellular division such that the egg or sperm has two copies of chromosome #21 and a total of 24 chromosomes. This is called “nondisjunction.”  Researchers are still unsure of what causes the cells to divide in this manner.
• If this egg or sperm is fertilized, the baby ends up with three copies of the #21 chromosome or”Trisomy 21″ This extra genetic material causes the variety of health and developmental issues in Down syndrome.

Symptoms of Down Syndrome

They also typically have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders.

Physical characteristics include

• Eyes that have an upward slant, oblique fissures, epicanthic skin folds on the inner corner, and white spots on the iris.
• Eyes shaped like almonds (may be shaped in a way that’s not typical for their ethnic group)
• Flatter faces, especially the nose
• Small ears, which may fold over a bit at the top
• Tiny white spots in the colored part of their eyes
• A tongue that sticks out of the mouth
• Low muscle tone
• Flat facial features
• Small head and ears
• Short neck
• Bulging tongue
• Eyes that slant upward
• Atypically shaped ears
• Poor muscle tone
• Small stature and short neck
• Flat nasal bridge
• Single, deep creases across the center of the palm
• Protruding tongue
• Large space between large and second toe
• A single flexion furrow of the fifth finger

Additional Symptoms of Down Syndrome

Down syndrome can affect a child physically, cognitively, and behaviorally. Remember that every child with the condition is unique and may possess these characteristics to different degrees or not at all.

Physical

A child with Down syndrome will have some, but perhaps not all, of the following features

• eyes that slant upward, from inner corner to outer corner
• small ears that may fold over slightly at the top
• a smaller than average mouth, and larger appearing tongue
• a smaller than average nose, with a flattened nasal bridge
• short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
• some babies with Down syndrome have short necks and small hands with short fingers
• one single crease that goes straight across the palm, and a second crease that curves down by the thumb, rather than having three creases in the palm of the hand
• shorter than average height
• low muscle tone (hypotonia) throughout the body and increased looseness or flexibility in the joints

Developmental, Cognitive, and Behavioral Symptoms

• Most children with Down syndrome have delays in meeting developmental milestones.  They typically learn to walk and talk at later times than children without Down syndrome.
• Children with Down syndrome often have mild to moderate cognitive impairment and intellectual disability
• Children with Down syndrome often have specific patterns of cognitive and behavioral features including:
  • Strengths in in social engagement and social behavior, visual learning, and word reading.
  • Challenges with attention span, verbal memory, and expressive communication.
• Tailored and specialized educational programs and support enable children with Down syndrome to learn and grow at their own pace.
• Behavioral problems such as stubborrness, impulsivity, and temper tantrums may be more common in children with Down syndrome
• A child may use “self talk” (talking out loud to himself) as a way of understanding and processing information

Diagnosis of Down Syndrome

Screening tests include

• Ultrasound
• Blood tests – The results of the ultrasound are paired with blood tests.
  • First Trimester Screen – This is a two-step screening. The maternal blood is tested for two normal first-trimester proteins. Then, an ultrasound is used to look at the nuchal translucency region under the skin behind the baby’s neck. This test is done between the 11th and 14th week of pregnancy.
  • Quad Marker Screen – Maternal blood is tested for four substances that normally come from a baby’s blood, brain, spinal fluid and amniotic fluid. This test is done between the 15th and 20th weeks of pregnancy.

• Nuchal translucency testing – At 11 to 14 weeks, an ultrasound can measure the clear space in folds of tissue behind the neck of a developing baby.
• Triple screen or quadruple screen –  At 15 to 18 weeks, this measures the quantities of various substances in the mother’s blood.
• Integrated screen –  This combines the results of first-trimester blood tests and screening tests, with or without nuchal translucency, with second-trimester quadruple screening results.
• Cell-free DNA – A blood test that analyzes fetal DNA found in the maternal blood.
• Genetic ultrasound – At 18 to 20 weeks, a detailed ultrasound is combined with blood test results.

Additional prenatal tests

• Amniocentesis – Your doctor takes a sample of amniotic fluid to examine the number of chromosomes your baby has. The test is usually done after 15 weeks.
• Chorionic villus sampling (CVS) – Your doctor will take cells from your placenta to analyze fetal chromosomes. This test is done between the 9th and 14th week of pregnancy. It can increase your risk of a miscarriage, but according to the Mayo Clinic, only by less than 1 percent.
• Percutaneous umbilical blood sampling (PUBS, or cordocentesis) – Your doctor will take blood from the umbilical cord and examine it for chromosomal defects. It’s done after the 18th week of pregnancy. It has a higher risk of miscarriage, so it’s performed only if all other tests are uncertain.

Treatment of Down Syndrome

Medication can be used for

• hypothyroidism
• childhood leukemia
• seizure disorders

Surgery may be used to treat

• congenital heart problems
• upper neck abnormalities
• abnormalities of the gastrointestinal tract

Treatment for heart defects

• Almost half of children with Down syndrome are born with congenital heart defects. Babies with congenital heart conditions are treated by specialists called pediatric cardiologists. These physicians diagnose heart defects and help manage the health of children before and after treatment.
• Treatment is based on the severity of your child’s heart condition. Some mild heart defects don’t require any treatment. Others can be treated with medications, interventional procedures or surgery.

Elements of medical care include the following

• Genetic counseling
• Standard immunizations and well-child care
• Management of specific manifestations of Down syndrome and associated conditions (eg, endocrine, infectious, cardiac, respiratory, neurologic, psychiatric, dermatologic, and dental disorders)
• Early intervention programs (may improve the social quotient)

Special considerations in adolescents are as follows

• Ongoing monitoring measures, including annual audiologic evaluation and annual ophthalmologic evaluation
• Ongoing management of manifestations of the syndrome and associated conditions
• Discussion of issues related to the transition to adulthood
• Vocational training

Appropriate surgical management of associated conditions should be provided, as follows

• Timely surgical treatment of cardiac anomalies is crucial for optimal survival
• Prompt surgical repair is necessary for gastrointestinal (GI) anomalies, most commonly, duodenal atresia and Hirschsprung disease
• Surgical intervention may be necessary to stabilize the upper segment of the cervical spine if neurologic deficits are clinically significant
• Congenital cataracts must be extracted soon after birth and subsequent correction with glasses or contact lenses provided
• Careful anesthetic airway management is needed because of the associated risk of cervical spine instability
• Adenotonsillectomy may be performed to manage obstructive sleep apnea

Therapy of Down Syndrome

Generally, therapists use a combination of approaches in order to address your child’s unique social, behavioral, communication and academic needs. The goal is to develop a program that will help your child reach his or her full potential.

• Speech therapy – can help improve your child’s communication skills and help him use language to express himself.
• Occupational therapy – can improve your child’s motor skills, such as using her hands and other parts of her body,and help her deal with sensory inputs from her environment.
• Physical therapy – can increase mobility and muscle strength and help your child to work within his functional limitations.
• Behavioral therapy – is an important resource that focuses on managing emotional and behavioral problems. This therapy can also teach families how to help a child with Down syndrome cope with anger or frustration.

Educational assistance

• Children under age 3 who have Down syndrome or other developmental challenges are eligible to receive developmental services through state-run, federally mandated programs. These programs have different names in each state.
• From age 3 until the 22nd birthday, children can access supports through the public school system.

 Support of Down Syndrome

• The Program Coordinator – at the Down Syndrome Program facilitates our Allen C. Crocker lecture series approximately one evening each month at Children’s. Meetings feature different topics and speakers. Parents who attend are a diverse group with children of all different ages.
• Understanding a Down Syndrome Diagnosis – is a booklet that our Down Syndrome Program shares with expectant parents that visit us for a prenatal visit. It is also sold by Lettercase and was created with input from both the medical and Down syndrome communities, including representatives of ACOG, NSGC, ACMG, NDSC, and NDSS, to provide accurate, up-to-date, and balanced prenatal information about Down syndrome.
• Diagnosis to Delivery – A Pregnant Mother’s Guide to Down Syndrome is a free online book that offers information and suggestions to expectant mothers expecting a baby with Down syndrome. The book includes information on how to inform relatives, how to prepare for your baby’s birth, and what to consider on birth announcements. It is also available in Spanish.

Complication of Down Syndrome

Medical complications often accompany Down syndrome. These may include:

• Heart defects – About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
• Gastrointestinal (GI) defects – GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
• Immune disorders –  Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.
• Sleep apnea – Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
• Obesity – People with Down syndrome have a greater tendency to be obese compared with the general population.
• Spinal problems  Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
• Leukemia – Young children with Down syndrome have an increased risk of leukemia.
• Dementia – People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer’s disease.
• Other problems – Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.
• Congenital heart defects
• Hearing loss
• Poor vision
• cataracts (clouded eyes)
• Hip problems, such as dislocations
• Leukemia
• Chronic constipation
• Sleep apnea (interrupted breathing during sleep
• Dementia (thought and memory problems)
• Hypothyroidism (low thyroid function)
• Obesity
• Late tooth growth, causing problems with chewing
• Alzheimer’s disease later in life

People with Down syndrome are also more prone to infection. They may struggle with respiratory infections, urinary tract infections, and skin infections.

Associate health problem

• children with Down syndrome typically have intellectual disability, hypotonia (low muscle tone) and characteristic facial features, such as upward slanted eyes and a flattened nasal bridge.  Some medical conditions are more common in individuals with Down syndrome, therefore special tests and extra medical care are needed.
• children with Down syndrome have an increased risk for certain medical conditions.  Health care guidelines exist to help clinicians screen and manage these conditions.  Some of these conditions include
• Congenital heart defects, which occur in almost half of children born with Down syndrome. Some children require surgery to correct their heart.
• pulmonary hypertension, a condition that affects arteries in the heart and lungs, and which often resolves in the newborn period.
• gastrointestinal malformations such as Hirschsprung’s disease and Duodenal Atresia. These are usually treated, often with surgery, in the newborn period.
• seizures, especially a type called “infantile spasms” in babies or other types of seizures in older children.  These are often well-managed with medication.
• ear infections and hearing impairment. Some children may require ear tubes.
• visual or hearing impairment.  Some children may use glasses.
• atlantoaxial instability (cervical spine vertebrae may be more flexible causing a small but increased risk for spinal cord injury or compression).
• obesity/Overweight
• childhood leukemia
• thyroid conditions, such as hypothyroidism
• colds and respiratory infections, like bronchitis, and pneumonia
• sleep dysfunction and obstructive sleep apnea

References

Lumbar puncture (LP) also known as a spinal tap, is a medical procedure in which a needle is inserted into the spinal canal, most commonly to collect cerebrospinal fluid (CSF) for diagnostic testing. The main reason for a lumbar puncture is to help diagnose diseases of the central nervous system, including the brain and spine. Examples of these conditions include meningitis and subarachnoid hemorrhage. It may also be used therapeutically in some conditions. Increased intracranial pressure (pressure in the skull) is a contraindication, due to risk of brain matter being compressed and pushed toward the spine.

Anatomy of Lumber Puncture

Arachnoid mater – one of three membranes that surround the brain and spinal cord; the middle web-like membrane.

Cerebrospinal fluid (CSF) – a clear fluid produced by the choroid plexus in the ventricles of the brain that bathes the brain and spinal cord giving them support and buoyancy to protect from injury.

Hemorrhage – external or internal loss of blood from damaged blood vessels. Hemorrhage is stopped by blood clotting.

Hydrocephalus – an abnormal build-up of cerebrospinal fluid usually caused by a blockage of the ventricular system of the brain. Increased intracranial pressure can compress and damage brain tissue. Also called “water on the brain.”

Meninges – the three membranes (pia mater, arachnoid mater, and dura mater) that surround the brain and spinal cord.

Meningitis – infection and inflammation of the meninges surrounding the brain and spinal cord caused by bacteria or virus.

Subarachnoid space – the space between the pia and arachnoid mater of the brain and spinal cord that contains cerebrospinal fluid (CSF).

spinal canal – the hollow space within the bony vertebrae of the spine through which the spinal cord passes.

Indications/Uses of Lumbar Puncture

A lumbar puncture procedure may be helpful in diagnosing many diseases and disorders, including:

• Meningitis – An inflammation of the membrane covering the brain and spinal cord. The inflammation is usually the result of a viral, bacterial, or fungal infection.
• Encephalitis – An inflammation of the brain that is usually caused by a virus.
• Certain cancers involving the brain and spinal cord
• Bleeding – in the area between the brain and the tissues that cover it (subarachnoid space)
• Reye syndrome – A sometimes fatal disease that causes severe problems with the brain and other organs. Although the exact cause of the disease is not known, it has been linked to giving aspirin to children. It is now advised not to give aspirin to children during illnesses, unless prescribed by your child’s healthcare provider.
• Myelitis – An inflammation of the spinal cord or bone marrow.
• Neurosyphilis – A stage of syphilis during which the bacteria invades the central nervous system.
• Guillain-Barré syndrome – A disorder in which the body’s immune system attacks part of the nervous system.
• Demyelinating diseases – Diseases that attack the protective coating that surrounds certain nerve fibers – for example, multiple sclerosis or acute demyelination polyneuropathy.
• Headaches of unknown cause – After evaluation and head imaging if necessary, a lumbar puncture may be done to diagnose certain inflammatory conditions that can result in a headache.
• Pseudotumor cerebri (also called idiopathic intracranial hypertension, or IIH) – In this condition,pressure within the subarachnoid space is elevated for reasons that are not clear. A lumbar puncture is only done in this condition after evaluation and head imaging.
• Normal pressure hydrocephalus – A rare condition affecting mainly older people in which there is a triad of loss of urinary control, memory problems, and an unsteady gait. A lumbar puncture is done to see if the pressure of the CSF is elevated or not.

Contra Indications of Lumbar Puncture

Lumbar puncture should not be performed in the following situations:

Idiopathic (unidentified cause) increased intracranial pressure (ICP)

• Rationale –  lumbar puncture in the presence of increased ICP may cause uncal herniation
• Exception – therapeutic use of lumbar puncture to reduce ICP, but only if obstruction (for example in the third ventricle of the brain) has been ruled out
• Precaution – CT brain, especially in the following situations
  • Age >65
  • Reduced GCS
  • Recent history of seizure
  • Focal neurological signs
  • Abnormal respiratory pattern
  • Hypertension with bradycardia and deteriorating consciousness
  • Ophthalmoscopy for papilledema

• Bleeding diathesis (relative)
  • Coagulopathy
  • Decreased platelet count (<50 x 10⁹/L)
• Infections
  • Skin infection at puncture site
• Vertebral deformities (scoliosis or kyphosis), in hands of an inexperienced physician.

Before the test of Lumbar Puncture

A blood test or other laboratory tests may be ordered by your doctor prior to the test. Please follow these guidelines before the test:

• If you take Plavix, stop taking it 5 days before the procedure.
• If you take Coumadin, stop taking it 5 days before the procedure.
• If you are on Lovenox injections, do not take your morning dose the day of your procedure.
• DO take your other medications as determined by your physician, especially any medications for high blood pressure.
• We may make exceptions to these recommendations based upon your specific circumstances.
• Take your usual dose of insulin and eat a light breakfast before 8:00 a.m.
• When you arrive for your test, please be sure to remind the physician that you have diabetes.
• Insulin pumps will usually be removed if X-ray is considered or if defibrillation is a possibility.
• There are no special diet restrictions associated with this procedure, unless otherwise instructed.

Procedures of Lumbar Puncture

Generally, a lumbar puncture follows this process

• Protein (15-45 mg/dl)
• You will remove any clothing, jewelry, or other objects that may interfere with the procedure.
• You will be given a gown to wear.
• You will be reminded to empty your bladder prior to the start of the procedure.
• During the lumbar puncture you may lie on the exam table on your side with your chin tucked to your chest and knees tucked to your abdomen. Or, you may sit on the edge of an exam table with your arms draped over a table positioned in front of you. In either position the back is arched, which helps to widen the spaces between your vertebrae.
• Therefore, your back will be cleansed with an antiseptic solution and draped with sterile towels. The healthcare provider will wear sterile gloves during the procedure.
• The provider will numb the skin by injecting a local anesthetic. This injection may sting for a few seconds, but makes the lumbar puncture less painful.
• The hollow needle will be inserted through the numbed skin and into the space where the CSF is located. You will feel some pressure while the needle is inserted. You must remain absolutely still during the insertion of the needle.
• The CSF will begin to drip out of the needle and a small amount, about one tablespoon, will be collected into test tubes.
• If the provider needs to inject medicine into the spinal canal, it will be given through the same needle after the CSF is collected.
• When the procedure is done, the needle will be removed and a bandage will be placed over the injection site. The test tubes will be taken to the lab for testing.
• Tell the healthcare provider if you feel any numbness, tingling, headache, or lightheadedness during the procedure.

During the test of Lumbar Puncture

• The radiologist and technologist will be in the room with you.
• Pre-medication, although rarely needed, may make you feel drowsy and relaxed.
• You will wear a hospital gown during the examination.
• You will either lie on your side with your knees bent, or on your stomach with a small pillow beneath your lower abdomen.
• Your back will be cleaned with an antiseptic solution and sterile cloths (called drapes) will be placed around the area.
• A local anesthetic (pain-relieving medication) will be injected into the area on your back. You may feel a slight burning sensation that lasts only seconds.
• When the area is numb, a hollow needle is inserted in the lower back between two lumbar vertebrae. This sometimes causes pressure, but pain will be limited by the anesthetic.
• The spinal canal is penetrated, and fluid is collected and/or medication is injected. The spinal cord is not touched by the needle during the test.
• You may feel some discomfort or have a minor headache at the end of the procedure.
• The needle is removed after the medication has been injected or fluid is removed. The area will be cleaned with an antiseptic solution and covered with a small bandage.
• You will lie on your back for 30-60 minutes, depending on the nature of the procedure.
• A blood sample may be taken from a vein in your arm and tested, along with the spinal fluid, in the laboratory.

Results of Lumbar Puncture

The spinal fluid samples are sent to a laboratory for analysis. Lab technicians check for a number of things when examining spinal fluid, including

Normal values for spinal fluid examination are as follows

• Protein (15-45 mg/dl)
• Glucose (50-75 mg/dl)
• Cell count (0-5 mononuclear cells)
• Initial pressure (70-180 mm)

• General appearance – Spinal fluid is normally clear and colorless. If it’s cloudy, yellow or pink in color, it may indicate infection.
• Protein (total protein and the presence of certain proteins) – Elevated levels of total protein — greater than 45 milligrams per deciliter (mg/dL) — may indicate infection or another inflammatory condition. Specific lab values may vary from medical facility to medical facility.
• White blood cells –  Spinal fluid normally contains up to 5 mononuclear leukocytes (white blood cells) per microliter. Increased numbers may indicate infection. Specific lab values may vary from medical facility to medical facility.
• Sugar (glucose) – A low glucose level in spinal fluid may indicate infection or another condition.
• Microorganisms –  The presence of bacteria, viruses, fungi or other microorganisms can indicate infection.
• Cancer cells – The presence of abnormal cells in spinal fluid — such as tumor or immature blood cells — can indicate certain types of cancer.

Risk Factor of Lumbar Puncture

• Post-lumbar puncture headache – Up to 25 percent of people who have undergone a lumbar puncture develop a headache afterward due to a leak of fluid into nearby tissues.
• Back discomfort or pain – You may feel pain or tenderness in your lower back after the procedure. The pain might radiate down the back of your legs.
• Bleeding – Bleeding may occur near the puncture site or, rarely, into the epidural space.
• Brainstem herniation –Increased pressure within the skull (intracranial), due to a brain tumor or other space-occupying lesion, can lead to compression of the brainstem after a sample of cerebrospinal fluid is removed.

Care after spinal tap

• Once a spinal tap is completed, you will be instructed to lie flat (the time spent flat after the tap will vary depending on why you received the procedure). A nurse will discuss post-procedure instructions with you and provide the instructions to you in written form.
• Avoid strenuous or vigorous exercise for a day or so following the lumbar puncture.
• If you have a headache, lie down as much as possible and drink plenty of fluids. Contact your health care provider if the headache persists.
• Drink 2 1/2 quarts of liquid the day of the spinal tap and the day after (regardless of headache).

References

Leukemia is a cancer of the blood or bone marrow.It is a form of cancer that affects the body’s ability to make healthy blood cells. It starts in the bone marrow, the soft center of various bones. This is where new blood cells are made .Bone marrow produces blood cells. It usually affects the leukocytes, or white blood cells. Healthy cells form in the bone marrow and mature into red blood cells (to deliver oxygen and nutrients to the body’s tissues), white blood cells (to fight infections) and platelets (to stop bleeding).

The blood is made up of fluid called plasma and three types of cells. Each type has special functions.

• White blood cells (also called WBCs or leukocytes) – help the body fight infections and other diseases.
• Red blood cells (also called RBCs or erythrocytes) – carry oxygen from the lungs to the body’s tissues and take carbon dioxide from the tissues back to the lungs. The red blood cells give blood its color.
• Platelets (also called thrombocytes) – help form blood clots that control bleeding.

Classification/ Types of Leukemia

1. According to the majority/Depending on the type of cells involved there are four types of leukemia

2.  According to the severity / Depending on how fast it progresses there are two types of leukemia

• Acute leukemia –  is characterized by a rapid increase in the number of immature blood cells. The crowding that results from such cells makes the bone marrow unable to produce healthy blood cells. Immediate treatment is required in acute leukemia because of the rapid progression and accumulation of the malignant cells, which then spill over into the bloodstream and spread to other organs of the body. Acute forms of leukemia are the most common forms of leukemia in children.
• Chronic leukemia –  is characterized by the excessive buildup of relatively mature, but still abnormal, white blood cells. Typically taking months or years to progress, the cells are produced at a much higher rate than normal, resulting in many abnormal white blood cells. Whereas acute leukemia must be treated immediately, chronic forms are sometimes monitored for some time before treatment to ensure maximum effectiveness of therapy. Chronic leukemia mostly occurs in older people, but can occur in any age group.

3. According to the tumor conditions

• In lymphoblastic or lymphocytic leukemias – the cancerous change takes place in a type of marrow cell that normally goes on to form lymphocytes, which are infection-fighting immune system cells. Most lymphocytic leukemias involve a specific subtype of lymphocyte, the B cell.
• In myeloid or myelogenous leukemias – the cancerous change takes place in a type of marrow cell that normally goes on to form red blood cells, some other types of white cells, and platelets.

Combining these two classifications provides a total of four main categories. Within each of these main categories, there are typically several subcategories. Finally, some rarer types are usually considered to be outside of this classification scheme.

4. According to the  condition of tumor

• Acute lymphoblastic leukemia (ALL) – is the most common type of leukemia in young children. It also affects adults, especially those 65 and older. Standard treatments involve chemotherapy and radiotherapy. The survival rates vary by age: 85% in children and 50% in adults.Subtypes include precursor B acute lymphoblastic leukemia, precursor T acute lymphoblastic leukemia, Burkitt’s leukemia, and acute biphenotypic leukemia.
• Chronic lymphocytic leukemia (CLL) –  most often affects adults over the age of 55. It sometimes occurs in younger adults, but it almost never affects children. Two-thirds of affected people are men. The five-year survival rate is 75%. It is incurable, but there are many effective treatments. One subtype is B-cell prolymphocytic leukemia, a more aggressive disease.
• Acute myelogenous leukemia (AML) –  occurs more commonly in adults than in children, and more commonly in men than women. It is treated with chemotherapy. The five-year survival rate is 40%, except for APL (Acute Promyelocytic Leukemia), which has a survival rate greater than 90%. Subtypes of AML include acute promyelocytic leukemia, acute myeloblastic leukemia, and acute megakaryoblastic leukemia.
• Chronic myelogenous leukemia (CML) – occurs mainly in adults; a very small number of children also develop this disease. It is treated with imatinib (Gleevec in United States, Glivec in Europe) or other drugs. The five-year survival rate is 90%.One subtype is chronic myelomonocytic leukemia.
• Hairy cell leukemia (HCL) –  is sometimes considered a subset of chronic lymphocytic leukemia, but does not fit neatly into this category. About 80% of affected people are adult men. No cases in children have been reported. HCL is incurable but easily treatable. Survival is 96% to 100% at ten years.
• T-cell prolymphocytic leukemia (T-PLL) – is a very rare and aggressive leukemia affecting adults; somewhat more men than women are diagnosed with this disease.Despite its overall rarity, it is the most common type of mature T cell leukemia;nearly all other leukemias involve B cells. It is difficult to treat, and the median survival is measured in months.
• Large granular lymphocytic leukemia – may involve either T-cells or NK cells; like hairy cell leukemia, which involves solely B cells, it is a rare and indolent (not aggressive) leukemia.
• Adult T-cell leukemia is caused by human T-lymphotropic virus (HTLV) – a virus similar to HIV. Like HIV, HTLV infects CD4+ T-cells and replicates within them; however, unlike HIV, it does not destroy them. Instead, HTLV “immortalizes” the infected T-cells, giving them the ability to proliferate abnormally. Human T-cell lymphotropic virus types I and II (HTLV-I/II) are endemic in certain areas of the world.
• Clonal eosinophilias (or clonal hypereosinophilia)s – are a group of hematological disorders characterized by the development and growth of a pre-malignant or malignant population of eosinophils in the bone marrow, blood, and/or other tissues. These disorders may evolve into chronic eosinophilic leukemia or may be associated with various forms of myeloid neoplasms, lymphoid neoplasms, myelofibrosis, or the myelodysplastic syndrome
• Juvenile myelomonocytic leukemia (JMML)  – is a type of myeloid leukemia that usually occurs in children under 6 years of age.
• Large granular lymphocytic leukemia (LGL leukemia) – is a type of chronic leukemia that develops from lymphoid cells. It can be slow- or fast-growing.

Causes of Leukemia

Genetics condition – Certain rare, inherited conditions can increase the risk of acute leukaemia, including:

The following are either known or suspected factors:

• artificial ionizing radiation
• viruses, such as the human T-lymphotropic virus (HTLV-1) and HIV
• benzene and some petrochemicals
• alkylating chemotherapy agents used in previous cancers
• hair dyes
• smoking

Genetic predisposition – Some people appear to have a higher risk of developing leukemia because of a fault in one or several genes.

Down syndrome  – People with Down syndrome appear to have a higher risk, possibly due to certain chromosomal changes.

Very high levels of radiation – People exposed to very high levels of radiation are much more likely than others to develop leukemia. Very high levels of radiation have been caused by atomic bomb explosions (such as those in Japan during World War II) and nuclear power plant accidents (such as the Chernobyl .

Working with certain chemicals  – Exposure to high levels of benzene in the workplace can cause leukemia. Benzene is used widely in the chemical industry. Formaldehyde is also used by the chemical industry. Workers exposed to formaldehyde also may be at greater risk of leukemia.

• Chemotherapy  – Cancer patients treated with certain cancer-fighting drugs sometimes later develop leukemia. For example, drugs known as alkylating agents are associated with the development of leukemia many years later.
• Down syndrome and certain other genetic diseases  – Some diseases caused by abnormal chromosomes may increase the risk of leukemia.
• Human T-cell leukemia virus-I (HTLV-I) – This virus causes a rare type of chronic lymphocytic leukemia known as human T-cell leukemia. However, leukemia does not appear to be contagious.
• Myelodysplastic syndrome — People with this blood disease are at increased risk of developing acute myeloid leukemia.
• As with other cancers – smoking is considered a risk factor for leukemia, but many people who develop leukemia have never smoked, and many people who smoke never develop leukemia.
• Long-term exposure  – to chemicals such as benzene or formaldehyde, typically in the workplace, is considered a risk factor for leukemia, but this accounts for relatively few cases of the disease.
• Prolonged exposure – to radiation is a risk factor, although this accounts for relatively few cases of leukemia. Doses of radiation used for diagnostic imaging such as X-rays and CT scans are nowhere near as prolonged or high as the doses needed to cause leukemia.
• Previous chemotherapy – Certain types of chemotherapy, particularly certain of the alkylating agents and topoisomerase inhibitors, used to treat various types of cancers, are linked to development of leukemia later. It is likely that radiation treatment adds to the risk of leukemia associated with certain chemotherapy drugs.
• Human T-cell leukemia virus 1 (HTLV-1) – Infection with this virus is linked to human T-cell leukemia.
• Myelodysplastic syndromes – This unusual group of blood disorders (formerly referred to as “preleukemia”) is characterized by abnormal blood cell development and a highly increased risk of leukemia.
• Down syndrome and other genetic diseases – Some diseases caused by abnormal chromosomes may increase risk for leukemia.
• Family history – Having a first-degree relative (parent, brother, sister, or child) who has chronic lymphocytic leukemia increases one’s risk of having the disease by as much as four times that of someone who does not have an affected relative.

International Agency for Research on Cancer (IARC) – The IARC is part of the World Health Organization (WHO). Its major goal is to identify causes of cancer. In the past several decades, the IARC has evaluated the cancer-causing potential of more than 900 likely exposures, placing them into one of the following groups:

• Group 1: Carcinogenic to humans
• Group 2A: Probably carcinogenic to humans
• Group 2B: Possibly carcinogenic to humans
• Group 3: Unclassifiable as to carcinogenicity in humans
• Group 4: Probably not carcinogenic to humans

Perhaps not surprisingly, based on how hard it can be to test possible carcinogens, most are listed as being of probable, possible, or unknown risk. Only a little over 100 are classified as “carcinogenic to humans.”

National Toxicology Program (NTP) – The NTP is formed from parts of several US government agencies, including the National Institutes of Health (NIH), the Centers for Disease Control and Prevention (CDC), and the Food and Drug Administration (FDA). The NTP updates its Report on Carcinogens (RoC) every few years.

The Report on Carcinogens identifies 2 groups of agents:

• Known to be human carcinogens
• Reasonably anticipated to be human carcinogens

The current version of the RoC lists about 240 substances and exposures. Unlike the IARC’s list, the RoC does not list substances that have been studied and found not to be carcinogens.

Symptoms of Leukemia

Signs and symptoms of leukemia include the following

• Poor blood clotting – Immature white blood cells crowd out platelets, which are crucial for blood clotting. This can cause a person to bruise or bleed easily and heal slowly. They may also develop petechiae, small red to purple spots on the body, indicating a minor hemorrhage.
• Frequent infections – The white blood cells are crucial for fighting off infection. If these are suppressed or not working properly, frequent infections can result. The immune system may attack other good body cells.
• Anemia – A low red blood cell count. Red blood cells carry oxygen around the body. This condition may contribute to weakness, fatigue or shortness of breath.
• Leukopenia – A low white blood cell count. A decrease in the production of functional leukocytes (white blood cells) weakens the body’s immune defense, which can make you more prone to infections.
• Thrombocytopenia – A low blood platelet count. Platelets are the blood cells responsible for blood clotting. A shortage of bloods platelets may lead to easy bruising or bleeding.
• Swollen lymph nodes – In some cases, the signs of leukemia may include noticeable swelling of the neck, armpit or groin. This occurs when leukemia has spread to the lymph nodes.
• Enlarged liver or spleen – The build-up of abnormal blood cells in the liver or spleen may cause a feeling of fullness (loss of appetite) or swelling in the upper left side of the abdomen.
• Fatigue, pale skin – Anemia (a shortage of red blood cells) may cause a child to feel tired, weak, dizzy, or short of breath. It may also cause the skin to appear pale.
• Bone and Joint Pain — Pain in bones and joints is another common symptom of leukemia. This pain is usually a result of the bone marrow being overcrowded and “full.”
• Abdominal Distress — Abdominal pain also may be a symptom. Leukemia cells can collect in the kidney, liver and spleen, enlarging these organs. Pain in the abdomen may cause a loss of appetite and weight.
• Difficulty Breathing or Dyspnea — With T-cell acute lymphocytic leukemia, leukemia cells tend to clump together around the thymus gland. This mass of cells present in the middle of the chest can cause pain and difficulty breathing. Wheezing, coughing or painful breathing requires immediate medical attention.
• Infections and fever – A child with leukemia may develop fever. This is often caused by an infection, which may not improve even with antibiotics. This is because of a lack of normal white blood cells, which would normally help fight the infection.
• Easy bleeding or bruising – A child with leukemia may bruise easily, have frequent nosebleeds and bleeding gums, or bleed excessively from small cuts. There may be pinhead-sized red spots on the skin caused by bleeding from tiny blood vessels. This comes from a lack of blood platelets, which normally stop bleeding by plugging holes in damaged blood vessels.
• Bone or joint pain – Some children with leukemia will have bone pain or joint pain. This is from the buildup of leukemia cells near the surface of the bone or inside the joint.
• Swelling of the abdomen – Leukemia cells may collect in the liver and spleen, causing them to enlarge. This may be noticed as a fullness or swelling of the belly. The lower ribs usually cover these organs, but when they are enlarged the doctor can often feel them.
• Loss of appetite, weight loss – If the spleen and/or liver become large enough, they may press against other organs like the stomach. This can limit the amount of food that can be eaten, leading to a loss of appetite and weight loss over time.
• Swollen lymph nodes – Some leukemias may spread to lymph nodes. The child, a parent, or a health care professional may notice swollen nodes as lumps under the skin in certain areas of the body (such as on the sides of the neck, in underarm areas, above the collarbone, or in the groin). Lymph nodes inside the chest or abdomen may also swell, but these can only be detected by imaging tests, such as CT or MRI scans.
• Coughing or trouble breathing – The T-cell type of acute lymphocytic leukemia (ALL) often involves the thymus, which is a small organ in the chest behind the breastbone (sternum) and in front of the windpipe (trachea). Enlargement of the thymus or of lymph nodes inside the chest can press on the trachea. This can lead to coughing or trouble breathing.
• Swelling of the face and arms – The superior vena cava (SVC), a large vein that carries blood from the head and arms back to the heart, passes next to the thymus. Growth of the thymus due to excess leukemia cells may press on the SVC, causing the blood to “back up” in the veins. This is known as SVC syndrome. It can cause swelling in the face, neck, arms, and upper chest (sometimes with a bluish-red skin color).
• Headache, seizures, vomiting – Leukemia can spread outside the bone marrow. It may spread to the central nervous system (brain and spinal cord), the testicles, ovaries, kidneys, lungs, heart, intestines, or other organs. Headache, trouble concentrating, weakness, seizures, vomiting, problems with balance, and blurred vision can be symptoms of central nervous system leukemia.
• Rashes, gum problems – In children with acute myelogenous leukemia (AML), leukemia cells may spread to the gums, causing swelling, pain, and bleeding. Spread to the skin can cause small, darkly colored spots that can resemble common rashes. A collection of AML cells under the skin or in other parts of the body is called a chloroma or granulocytic sarcoma.
• Extreme fatigue,   One rare but very serious consequence of AML is extreme tiredness, weakness, and slurring of speech. This can occur when very high numbers of leukemia cells make the blood too “thick” and slow the circulation through small blood vessels of the brain.

Other symptoms 

There may be nausea, fever, chills, night sweats, flu-like symptoms, weight loss, bone pain, and tiredness. If the liver or spleen becomes enlarged the person may feel full and will eat less, resulting in weight loss.

1.  Acute lymphoblastic leukaemia (ALL)

• symptoms resulting from low blood cell counts, including tiredness, weakness, shortness of breath, fever, infections that don’t go away, bruising and bleeding easily
• weight loss
• night sweats
• loss of appetite
• swelling in the abdomen, as a result of buildup of leukaemia cells in the liver and spleen
• enlarged lymph nodes
• pain in the bones or joints
• symptoms resulting from an enlarged thymus (a specialised organ of the immune system, located in the chest), including coughing and trouble breathing, and a serious syndrome caused by the thymus pressing on the superior vena cava (the major vein that carries blood from the upper body back to the heart)

2.  Acute myeloid leukaemia (AML)

• symptoms resulting from low blood cell counts, including tiredness, weakness, feeling cold, headaches, shortness of breath, fever, infections that don’t go away, bruising and bleeding easily
• symptoms similar to stroke that result from clogging of blood vessels with leukaemia cells
• weight loss
• night sweats
• loss of appetite
• problems with bleeding and clotting
• pain in the bones or joints
• swelling in the abdomen, as a result of buildup of leukaemia cells in the liver and spleen
• skin rash, caused by collection of leukaemia cells under the skin
• bleeding gums
• enlarged lymph nodes

3.  Chronic lymphoblastic leukaemia (CLL: note that people with CLL often do not have any symptoms)

• tiredness
• weakness
• fever
• weight loss
• night sweats
• enlarged lymph nodes
• swelling in the abdomen, as a result of buildup of leukaemia cells in the liver and spleen
• symptoms resulting from low blood cell counts, including tiredness, weakness, shortness of breath, infections that don’t go away, bruising and bleeding easily.

4.  Chronic myeloid leukaemia (CML)

• tiredness
• weakness
• fever
• weight loss
• night sweats
• bone pain
• swelling in the abdomen, as a result of buildup of leukaemia cells in the liver and spleen
• symptoms resulting from low blood cell counts, including tiredness, weakness, shortness of breath, infections that don’t go away, bruising and bleeding easily.

Additional symptoms of Leukemia

The following symptoms of leukemia are common to all acute and some chronic types

• Unexplained fevers
• Frequent infections
• Night sweats
• Fatigue (feeling tired or washed out)
• Weight loss
• Easy bleeding or bruising
• Headache
• Confusion
• Balance problems
• Blurred vision
• Painful swellings in the neck, under the arms, or in the groin
• Shortness of breath
• Nausea or vomiting
• Abdominal pain and/or swelling
• Testicular pain and/or swelling
• Pain in the bones or joints
• Weakness or loss of muscle control
• Seizures

Diagnosis of Leukemia

Once you notice symptoms, or as part of a routine examination, your doctor may use the following tests to look for leukemia:

• Physical exam
• Blood tests
  • Complete blood count – This test checks for the number of red blood cells, white blood cells and platelets in your blood sample.
  • Peripheral blood smear – Also known as a blood film, this test smears a thin layer of blood on a glass slide for examination under a microscope.
• Chest X-ray.
• Bone marrow aspiration.
• Cultures — If your child has a fever or other signs of infection, one or more samples of blood, urine or stool, throat secretion or pus may be taken to check for infection. To confirm an infection, any organisms contained in these samples are allowed to grow in a culture for several days. To get a head start at fighting the infection, however, antibiotics may be prescribed before your child’s doctor has the final results of the culture.
• Bone Marrow Biopsy — Cells are removed from the spongy network of tissues inside the bones, called bone marrow, to check for signs of cancer. Depending on the diagnosis, this procedure may be done periodically throughout your child’s treatment to determine if cancerous cells have spread to the bone marrow. Leukemia is the most common type of cancer found in the bone marrow. A bone marrow aspiration and biopsy usually takes 15 to 20 minutes to complete.
• Spinal Tap — A clear fluid called cerebrospinal fluid (CSF) surround the brain and spinal cord. Sometimes a sample of this fluid is removed and examined for cancer cells or signs of infection. Another name for a spinal tap is lumbar (lower spine) puncture or LP. This procedure takes about 15 minutes..
• Bone marrow aspiration and biopsy – A hollow needle is inserted into your hipbone or breastbone to extract a sample of bone marrow, blood and bone tissue. A pathologist then examines the tissue for signs of cancer.
• Imaging tests – Although medical imaging procedures – such as X-ray and magnetic resonance imaging scans – are not typically used to diagnose leukemia, they may be ordered if your doctor suspects that leukemia cells are growing in an organ, such as the spleen or liver.
• Cytogenetic analysis – A test that looks for genetic or chromosomal abnormalities in a blood or bone marrow sample
• Bone Scan, Gallium Scan and MIBG Scan — Evaluation and treatment of a child with cancer may involve specialized nuclear medicine scans of organs, tissues or bones to check for disease or infection. The three most common types of scans are bone scans, gallium scans and MIBG scans. MIBG stands for meta-iodobenzylguanidine. Both gallium and MIBG are radioactive substances that enable doctors to detect cancerous cells in the scans.
  A nuclear medicine scan requires the injection of a small amount of a radioactive substance into the blood about two to three hours before a bone scan, 48 to 72 hours before the gallium scan and 24 hours before the MIBG scan. Registration and the injection of the radioactive substance should take no more than 15 minutes.
• Magnetic Resonance Imaging (MRI) – MRI uses magnets, rather than X-rays, to produce detailed images of the body. An MRI machine sends radio waves into the body and then measures the response with a computer. The computer makes an image or picture of the body’s internal organs. MRIs are used for certain types tumors in certain locations of the body because they can produce a better image than X-rays.
• Echocardiogram — Because certain types of chemotherapy can affect heart muscle, tests may be done periodically to detect changes in your child’s heart to help identify problems before they become serious. An echocardiogram is used to record the echoes of sounds sent through the heart. This test shows the size of the four heart chambers, as well as how the heart muscle functions. Your child may need to remove clothing above the waist for this test.
• Ultrasound  – An ultrasound exam or sonogram uses high frequency sound waves to create images of organs in the body. No radiation is used. Sound waves bounce off tissue using the same principles as sonar. The echoes that return to a transducter are used to draw the images on the screen.
• Computerized Tomography (CT or CAT) Scan – CT scans use computers and X-rays to create pictures with more detail than conventional X-rays. X-rays are sent through the body in thin cross sections to create images. These scans often supplement other diagnostic X-rays.
• Immunophenotyping – This test looks for specific markers on the surface of the leukemia cells, and is used to help identify the disease subtype.
• Reverse transcription-polymerase chain reaction (RT-PCR) test – This test uses chemicals to look at structure or function of genes, and can help identify leukemia subtypes.
• Lymph node biopsy – If you have enlarged lymph nodes, your doctor may recommend a biopsy to see if this is related to leukaemia.Tissue will be removed from the affected lymph node and examined under a microscope. You may have a local or general anaesthetic, depending on where the affected node is. You may have the procedure while you’re an outpatient or during a brief stay as an inpatient.
• Lumbar puncture  – Your doctor may recommend a lumbar puncture. This is to check for leukaemic cells in the fluid around the brain and spinal cord.If your doctor suspects that leukemia cells have spread to your brain and spinal cord, a small sample of your cerebrospinal fluid – or CSF – may be extracted from your spine for further evaluation.A fine needle will be put into a space between bones in your lower back. Some fluid will be removed from around your spine. This will be looked at under a microscope.
• Chromosome testing – the genetic changes that occur in leukaemia often involve chromosome changes, which can be seen under a microscope or using laboratory tests
• Investigating “leukemia stem cells” – that allow the disease to relapse and grow following cancer treatment. By better understanding the biology and weaknesses of these cancer stem cells, scientists and clinicians can develop better treatments that produce lasting cures.
• Enhance bone marrow/stem cell transplants – While stem cell transplants can be a lifesaving procedure for leukemia patients, they also carry a risk of graft-versus-host disease (GvHD), in which the newly transplanted stem cells do not recognize the recipient’s body as their own and start producing an immune response against it, leading to chronic and potentially serious complications. To reduce the likelihood of GvHD and to improve transplant outcomes, City of Hope is researching new ways to classify and match stem cell donors and recipients.
• Improving survivorship – City of Hope runs an ongoing long-term, follow-up program for bone marrow transplant recipients, which monitors them for chronic side effects and educates them on improving their quality of life based on their disease and the treatments they have received.

Treatment of Leukemia

The treatment you get depends on the type of leukemia you have, how far it has spread, and how healthy you are. But the main options are

Acute leukemias

Unlike other cancers, the treatment of acute leukemia does not depend on how far the disease has advanced but on the person’s condition.

With ALL, treatment generally occurs in phases. However, not all patients experience all of these phases:

• Phase 1 (induction therapy) uses chemotherapy in the hospital to try to control the disease.
• Phase 2 (consolidation) continues chemotherapy, but on an outpatient basis, to keep the disease in remission. This means that person returns to the hospital for treatment, but does not stay overnight.
• Phase 3 (prophylaxis) uses different chemotherapy drugs to prevent the leukemia from entering the brain and central nervous system. Chemotherapy may be combined with radiation therapy.
• Phase 4 (maintenance) involves regular physical exams and laboratory tests after the leukemia has been treated to be sure that it has not returned.
• Recurrent ALL uses different doses of various chemotherapy drugs to combat the disease if it returns. People may need several years of chemotherapy to keep the leukemia in remission. Some people may receive a bone marrow transplant.

With AML, treatment generally depends on the patient’s age and overall health. It also depends on the patient’s blood cell counts. As with ALL, treatment usually begins with induction therapy in an effort to send the leukemia into remission. When leukemia cells can no longer be seen, consolidation therapy begins. Bone marrow transplantation may also be considered in the treatment plan.

Chronic leukemias

To treat CLL, your doctor must first determine the extent of the cancer. This is called staging. There are five stages of CLL:

• Stage 0. There are too many lymphocytes in the blood. Generally, there are no other symptoms of leukemia.
• Stage I. The lymph nodes are swollen because there are too many lymphocytes in the blood.
• Stage II. The lymph nodes, spleen, and liver are swollen because there are too many lymphocytes.
• Stage III. Anemia has developed because there are too few red blood cells in the blood.
• Stage IV. There are too few platelets in the blood. The lymph nodes, spleen, and liver may be swollen. Anemia may be present.

Treatment of CLL depends on the stage of the disease, as well as on the person’s age and overall health. In stage 0, treatment may not be needed, but the person’s health will be monitored closely. In stage I or II, observation (with close monitoring) or chemotherapy is the usual treatment. In Stage III or IV, intensive chemotherapy with one or more drugs is the standard treatment. Some people may need a bone marrow transplant.

Drug therapy 

Drug therapy may be given to patients to fight leukemia cells throughout the body by killing them or stopping their growth and spread. These drugs include

• Chemotherapy, which targets rapidly dividing cells, including leukemia cells
• Targeted therapy, which selectively identifies and attacks leukemia based on specific markers expressed by the cancerous cells
• Immunotherapy, which stimulates the patient’s own immune system to attack leukemia cells
• Radiation
• Biologic therapy
• Targeted therapy
• Stem cell transplant

Chemotherapy – uses drugs to kill cancer cells in your blood and bone marrow. You can get the medicine:

• Through an injection into a vein or muscle
• As a pill
• Into the fluid around your spinal cord

Radiation Therapy – uses high-energy X-rays to kill leukemia cells or keep them from growing. You can get it in only one part of your body where there are a lot of cancer cells, or all over.Radiation therapy uses focused, high-energy X-rays or other forms of radiation to kill cancer cells.

For leukemia, radiation is typically used in the following manner:

• To treat leukemia cells that have accumulated in specific areas of the body, such as the brain or the spleen
• Before a stem cell transplant to help kill leukemia cells throughout the bone marrow and body
• To treat symptoms caused by leukemia, such as bone pain

Chemotherapy – These are cell-killing drugs which kill and/or stop them from dividing. Chemotherapy is often given in blocks or ‘cycles’ of treatment. One cycle of treatment will consist of a series of doses of chemotherapy followed by a break for the healthy cells to recover.

Targeted therapy – uses drugs that target specific vulnerabilities within leukaemia cells to inhibit their growth. For example, the drug imatinib blocks the action of a specific enzyme that is required for the growth of leukaemia cells in people with chronic myeloid leukaemia.

Stem cell transplantation – a procedure in which diseased bone marrow is replaced with healthy bone marrow. Prior to a stem cell transplantation, high doses of chemotherapy or radiation therapy are given to destroy diseased bone marrow. An infusion of blood-forming stem cells that help to rebuild bone marrow is then given. Transplants may be the patient’s own stem cells (autologous transplant) or stem cells from another person (allogeneic transplant).

Biologic therapy – also called immunotherapy, helps your immune system find and attack cancer cells. Drugs like interleukins and interferon can help boost your body’s natural defenses against leukemia.

Targeted therapy  – uses drugs to block specific genes or proteins that cancer cells need to grow. This treatment can stop the signals leukemia cells use to grow and divide, cut off their blood supply, or kill them directly.

Stem cell transplant – replaces the leukemia cells in your bone marrow with new ones that make blood. Your doctor can get the new stem cells from your own body or from a donor. First you’ll have high doses of chemotherapy to destroy the cancer cells in your bone marrow. Then you’ll get the new stem cells through an infusion into one of your veins. They will grow into new, healthy blood cells.

CAR-T cell therapy – Immune system cells called T cells guard against disease; they can detect invaders such as bacteria and viruses and destroy them. City of Hope scientists are currently investigating to see how these cells can be reprogrammed to recognize and attack leukemia, as well.

Enhanced subtype profiling – While leukemia is typically classified as one of four major groups, it is actually a collection of over a hundred abnormalities that lead to uncontrolled cell growth. Our researchers are actively studying these subtypes and whether they have specific genetic or molecular targets to focus therapy on.

New therapies for relapsed/refractory disease – for patients who have undergone and failed standard treatments. These clinical trials may include novel agents developed at City of Hope, or new combinations or regimens of already-approved therapies that may be more effective.

Developing more tolerable regimens – for patients who cannot withstand standard treatments, such as older patients and those with comorbid conditions.

Bone Marrow Transplant – The first step of bone marrow transplant (BMT) involves high doses of chemotherapy, sometimes with radiation, to destroy all of your child’s bone marrow. Healthy marrow from a donor, whose tissue is the same as or almost the same as your child’s, is transplanted into your child. The donor may be a twin, who is the best match; a brother or sister; or other person not related. The healthy marrow from a donor is given to your child intravenously through a needle in a vein to replace the marrow that was destroyed. This process, involving marrow from a donor, is called an allogeneic bone marrow transplant.

Biological Therapy – Biological therapy attempts to stimulate or restore the ability of your child’s immune system to fight cancer. It uses substances produced by your child’s body, or made in a laboratory, to boost, direct or restore the natural defenses against disease. Biological therapy is sometimes called biological response modifier therapy or immunotherapy.

Exercise – A groundbreaking study shows that exercising can be very beneficial to patients suffering from leukemia. However, please consult your doctor for his approval before deciding on an exercise regimen. Weight training, swimming, jogging and walking are excellent forms of exercises for leukemia patients. While training with weights, it is imperative that you use very light weights, to prevent fatigue and injury.

Specialists and other health professionals who care for people with leukaemia include:

• haematologists and medical oncologists, who diagnose and treat people with blood diseases and usually give medication for leukaemia
• surgeons, who specialise in biopsies and other surgical procedures
• dietitians, who will recommend the best diets to follow while you’re in treatment and recovery
• nurses and general practitioners, who will help you through all stages of your cancer
• social workers, psychologists, counsellors, physiotherapists and occupational therapists, who will advise you on support services and help you to get back to normal activities
• a palliative care team to help with symptom management and emotional support for you and your family if your cancer can’t be cured.
• Acupuncture to relieve pain.
• Meditation or yoga to relieve stress.
• Massage and biofeedback to reduce pain and ease tension.
• Breathing exercises for relaxation.

Prevention of Leukemia

We can help with all of the following concerns, and more

• Managing symptoms and side effects, such as pain, nausea and fatigue
• Recovering after stem cell transplantation
• Handling emotional, social and spiritual issues in group or one-on-one settings
• Coping with the stress of diagnosis, treatment and recovery
• Addressing fertility and family planning issues
• Navigating the health care system, including related legal and financial issues
• Maintaining a healthy lifestyle with expert nutrition and physical activity guidance
• Building caregiver skills
• Improving communication with family, partners and loved ones
• Restoring normalcy in your family, job or school routine
• Restoring your body and mind through healing arts workshops
• Connecting with and learning from other patients and survivors
• Returning to wellness after active treatment

References

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Blurred vision means, lack of sharpness of vision with, as a result, the inability to see fine detail. Blurred vision can occur when a person who wears corrective lens is without them. Blurred vision can also be an important clue to eye disease . It  may result from abnormalities such as nearsightedness, farsightedness, presbyopia, or astigmatism that can be improved with corrective lenses (eyeglasses) or it may signal the presence of eye disease.

Types of Blurred Vision

• General blurred vision – inability to see an image clearly – it’s important to establish whether the blurring occurs more at close distance, or when objects are further away.
• Decreased peripheral vision – blurring may occur around the sides of a vision, leading patients to bump into items or have trouble parking.
• Alteration of an image – sometimes blurring can cause images to appear smaller or larger, or even distorted.
• Diplopia – this is when blurred vision causes double vision, when the eye is unable to focus on an item or image.
• Dry eye blurring – this occurs when a dry eye is unable to focus on an item, leading to blurring and discomfort that can be temporarily reduced by blinking.

Causes of Blurred Vision

There are many causes of blurred vision:

• Use of atropine or other anticholinergics
• Presbyopia – Difficulty focusing on objects that are close. Common in the elderly. (Accommodation tends to decrease with age.)
• Cataracts – Cloudiness over the eye’s lens, causing poor night-time vision, halos around lights, and sensitivity to glare. Daytime vision is eventually affected. Common in the elderly.
• Glaucoma – Increased pressure in the eye, causing poor night vision, blind spots, and loss of vision to either side. A major cause of blindness. Glaucoma can happen gradually or suddenly if sudden, it is a medical emergency.
• Diabetes – Poorly controlled blood sugar can lead to temporary swelling of the lens of the eye, resulting in blurred vision. While it resolves if blood sugar control is reestablished, it is believed repeated occurrences promote the formation of cataracts (which are not temporary).
• Diabetic retinopathy – This complication of diabetes can lead to bleeding into the retina. Another common cause of blindness.
• Hypervitaminosis A – Excess consumption of vitamin A can cause blurred vision.
• Macular degeneration – of central vision, blurred vision (especially while reading), distorted vision (like seeing wavy lines), and colors appearing faded. The most common cause of blindness in people over age 60.
• Eye infection, inflammation, or injury.
• Sjögren’s syndrome, a chronic autoimmune inflammatory disease that destroys moisture producing glands, including lacrimal (tear)
• Floaters – Tiny particles drifting across the eye. Although often brief and harmless, they may be a sign of retinal detachment.
• Retinal detachment – Symptoms include floaters, flashes of light across your visual field, or a sensation of a shade or curtain hanging on one side of your visual field.
• Optic neuritis – Inflammation of the optic nerve from infection or multiple sclerosis. You may have pain when you move your eye or touch it through the eyelid.
• Stroke or transient ischemic attack
• Brain tumor
• Toxocara – A parasitic roundworm that can cause blurred vision
• Bleeding into the eye
• Temporal arteritis – Inflammation of an artery in the brain that supplies blood to the optic nerve.
• Macular degeneration and macular holes – The macula is the central part of the retina at the back of your eye. It allows you to see detail, colour, and things directly in front of you. Macular degeneration and macular holes damage the macula, causing central vision to become blurred.
• Retinal detachment – A detached retina is a serious medical emergency that can cause sudden blurred vision. It may also cause a number of other symptoms, such as flashes and floaters, and sudden blindness.
• Retinal vein occlusion – If the blood vessels that feed the retina (the focusing surface at the back of the eye) become blocked, it is known as a retinal vein occlusion. This can cause sudden blurred vision, and also sudden blindness.
• Pterygium – A pterygium is a benign growth that occurs on the surface of the eye. Sometimes, a pterygium can grow onto the cornea. If this occurs, it can alter the shape of the cornea, causing blurred vision.
• Vitreous haemorrhage – If blood leaks into the vitreous ‘gel’ that fills your eye, it can block the light that enters your eye, causing blurred vision. Vitreous haemorrhage can be caused by trauma or injury, or it may be a result of an eye condition, such as diabetic retinopathy.
• Migraine headaches—Spots of light, halos, or zigzag patterns are common symptoms prior to the start of the headache. A retinal migraine is when you have only visual symptoms without a headache.
• Myopia – Blurred vision may be a systemic sign of local anaesthetic toxicity
• Reduced blinking – Lid closure that occurs too infrequently often leads to irregularities of the tear film due to prolonged evaporation, thus resulting in disruptions in visual perception.
• Carbon monoxide poisoning – Reduced oxygen delivery can effect many areas of the body including vision. Other symptoms caused by CO include vertigo, hallucination and sensitivity to light.
• Sometimes medications cause blurry vision. There are many prescribed drugs, over-the-counter drugs, and supplements that can cause this problem, including:
  • Certain anticholinergics
  • Some antihypertensives
  • Some asychotropic drugs
  • Oral contraceptivesheart
  • Cortisone
  • Some antidepressants
  • Some medications

Symptoms of Blurred Vision

In some cases blurred vision may be accompanied by additional symptoms in one or both eyes. There is usually some other underlying cause. Symptoms can include:

• Photophobia (sensitivity to light)
• Floaters or spots
• Eye pain
• Discharge from eye
• Loss of peripheral vision
• Loss of central vision
• Dry eyes
• Itchy eyes
• Increased tear production
• Poor night vision
• Red bloodshot eyes
• Bleeding from eye
• Poor near vision

Diagnosis of Blurred Vision

• Diabetes – Fingerstick or random glucose measurement

• Poorly controlled hypertension and acute hypertensive retinopathy (hemorrhages, exudates, or papilledema) – Urinalysis, renal function testing, BP monitoring, and ECG

• HIV/AIDS and retinal abnormalities – HIV serology and CD4+ count

• SLE and retinal abnormality: Antinuclear antibodies, ESR, and CBC

• Waldenström macroglobulinemia, multiple myeloma, or sickle cell anemia – CBC with differential count and other testing (eg, serum protein electrophoresis) as clinically indicated

A refraction test – this test is designed to measure the prescription you could need for contact lenses or eyeglasses. A device known as a refractor or phoroptor will be used, and by looking through the device, you will be asked to focus on a Snellen eye chart. As your doctor asks for you to read the chart, they will also put lenses of different strengths in and out of your view to determine whether you are in need of a prescription.

Slit-lamp examination – Your eye doctor will have you place your chin on a resting pad at first. Then he or she will use a machine to focus on different structures in the front and back of the eye. This helps them see if the eye is functioning properly or not. When necessary, the doctor may adjust the light and the level of magnification in order to see better.

Tonometry – Using the glowing eye drops mentioned above, your eye doctor will measure your eye pressure. This is done with a device called a tonometer, which is attached to the slit-lamp. You will be asked to keep your eyes wide open and to breathe normally.

Fever also is known as pyrexia and febrile response is defined as having a temperature above the normal range due to an increase in the body’s temperature set-point. There is not a single agreed-upon upper limit for normal temperature with sources using values between 37.5 and 38.3 °C (99.5 and 100.9 °F). The increase in set-point triggers increased muscle contractions and causes a feeling of cold. This results in greater heat production and efforts to conserve heat. When the set-point temperature returns to normal, a person feels hot, becomes flushed, and may begin to sweat. Rarely a fever may trigger a febrile seizure. This is more common in young children. Fevers do not typically go higher than 41 to 42 °C (105.8 to 107.6 °F).

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Types of Fever

Fevers can be classified according to how long they last, whether or not they come and go, and how high they are.

Severity

A fever can be:

• low grade, from 100.5–102.1°F or 38.1–39°C
• moderate, from 102.2–104.0°F or 39.1–40°C
• high, from 104.1–106.0°F to or 40.1-41.1°C
• hyperpyrexia, above 106.0°F or 41.1°C

The height of the temperature may help indicate what type of problem is causing it.

Length of time

A fever can be

• acute if it lasts less than 7 days
• sub-acute, if it lasts up to 14 days
• chronic or persistent, if it persists for over 14 days

The pattern of temperature changes may occasionally hint at the diagnosis

• Continuous fever – Temperature remains above normal throughout the day and does not fluctuate more than 1 °C in 24 hours, e.g. lobar pneumonia, typhoid, meningitis, urinary tract infection, or typhus. Typhoid fever may show a specific fever pattern (Wunderlich curve of typhoid fever), with a slow stepwise increase and a high plateau. (Drops due to fever-reducing drugs are excluded.)
• Intermittent fever – The temperature elevation is present only for a certain period, later cycling back to normal, e.g. malaria, kala-azar, pyemia, or septicemia. Following are its types
  • Quotidian fever, with a periodicity of 24 hours, typical of Plasmodium falciparum or Plasmodium knowlesi malaria
  • Tertian fever (48-hour periodicity), typical of Plasmodium vivax or Plasmodium ovale malaria
  • Quartan fever (72-hour periodicity), typical of Plasmodium malaria.
• Remittent fever – Temperature remains above normal throughout the day and fluctuates more than 1 °C in 24 hours, e.g., infective endocarditis, brucellosis.
• Pel-Ebstein fever – A specific kind of fever associated with Hodgkin’s lymphoma, is high for one week and low for the next week and so on. However, there is some debate as to whether this pattern truly exists.

A neutropenic fever, also called febrile neutropenia, is a fever in the absence of normal immune system function. Because of the lack of infection-fighting neutrophils, a bacterial infection can spread rapidly; this fever is, therefore, usually considered to require urgent medical attention. This kind of fever is more commonly seen in people receiving immune-suppressing chemotherapy than in apparently healthy people.

Febricula is an old term for a low-grade fever, especially if the cause is unknown, no other symptoms are present, and the patient recovers fully in less than a week

Symptoms of Fever

• Temperature greater than 100.4 F (38 C) in adults and children
• Shivering, shaking, and chills
• Aching muscles and joints or other body aches
• Headache
• Intermittent sweats or excessive sweating
• Rapid heart rate and/or palpitations
• Skin flushing or hot skin
• Feeling faint, dizzy, or lightheaded
• Eye pain or sore eyes
• Weakness
• Loss of appetite
• Fussiness (in children and toddlers)
• Also important to note in children are symptoms that can accompany an infection, including sore throat, cough, earache, vomiting, and diarrhea
• With very high temperatures (>104 F/40 C), convulsions, hallucinations, or confusion is possible. Always seek medical attention for a high fever or if these symptoms occur.

Diagnosis of Fever

Fever is a common symptom of many medical conditions:

• Infectious disease, e.g., influenza, primary HIV infection, malaria, Ebola, infectious mononucleosis, gastroenteritis, Lyme disease
• Various skin inflammations, e.g., boils, abscess
• Immunological diseases, e.g., lupus erythematosus, sarcoidosis, inflammatory bowel diseases, Kawasaki disease, Still disease, Horton disease, granulomatosis with polyangiitis, autoimmune hepatitis, relapsing polychondritis
• Tissue destruction – which can occur in hemolysis, surgery, infarction, crush syndrome, rhabdomyolysis, cerebral bleeding, etc.
• Reaction – to incompatible blood products
• Cancers – most commonly kidney cancer and leukemia and lymphomas
• Metabolic disorders – gout, porphyria
• Inherited metabolic disorders,

Treatment of Fever/Pyrexia

The following fever-reducing medications may be used at home:

• Acetaminophen (Tylenol and others) can be used to lower a fever. The recommended pediatric dose can be suggested by the child’s pediatrician. Adults without liver disease or other health problems can take 1,000 mg (two “extra-strength” tablets) every six hours or as directed by a physician. The makers of Tylenol state the maximum recommended dose of acetaminophen per day is 3,000 mg, or six extra-strength tablets per 24 hours unless directed by a doctor. Regular-strength Tylenol tablets are 325 mg; the recommended dosage for these is two tablets every four to six hours, not to exceed 10 tablets per 24 hours. If your fever is accompanied by vomiting and you are unable to keep oral medications down, ask a pharmacist for acetaminophen suppositories, which are available without a prescription.
• Ibuprofen can also be used to break a fever in patients over 6 months of age. Discuss the best dose with a doctor. For adults, generally, 400 mg to 600 mg (two to three 200 mg tablets) can be used every six hours as fever reducers.
• Naproxen is another nonsteroidal anti-inflammatory drug (NSAID) that can temporarily reduce fever. The adult dose is two tablets every 12 hours.
• Aspirin should not be used for fever in children or adolescents. Aspirin use in children and adolescents during a viral illness (especially chickenpox and influenza, or flu) has been associated with Reye’s syndrome. Reye’s syndrome is a dangerous illness that causes prolonged vomiting, confusion, and even coma and liver failure.

References

Apnea or sleep apnea is a temporary cessation of breathing, especially during sleep or suspension of breathing. During apnea, there is no movement of the muscles of inhalation, and the volume of the lungs initially remains unchanged. Depending on how blocked the airways are (patency), there may or may not be a flow of gas between the lungs and the environment; gas exchange within the lungs and cellular respiration is not affected. Voluntarily doing this is called holding one’s breath.

Types of Apnea/Sleep Apnea

• Obstructive sleep apnea (OSA) – The more common of the two forms of apnea, it is caused by a blockage of the airway, usually when the soft tissue in the back of the throat collapses during sleep.
• Positional sleep apnea – Positional sleep apnea is a form of obstructive sleep apnea that occurs when a patient sleeps on their back, but not when they sleep on their side
• Complex sleep apnea syndrome – also known as treatment-emergent central sleep apnea, occurs when someone has both obstructive sleep apnea and central sleep apnea
• Central sleep apnea – Unlike OSA, the airway is not blocked, but the brain fails to signal the muscles to breathe, due to instability in the respiratory control center.
• Mixed sleep apnea – is a combination of obstructive sleep apnea and central sleep apnea. Often the central apnea will occur first, followed by an obstructive apnea or hypopnea . Unlike OSA, central sleep apnea (CSA) does not physically block the upper airway; central apneas occur when the brain “forgets” to tell the body to breathe. Central sleep apnea is caused by a malfunction in the brains respiratory centre.

Causes of Apnea/Sleep Apnea

Sleep apnea can affect anyone, even children. But certain factors increase your risk of sleep apnea

Muscular changes – When people sleep, the muscles that keep the airway open relax, along with the tongue, causing the airway to narrow. Normally, this relaxation does not prevent the flow of air in and out of the lungs, but in sleep apnea, it can.

Physical obstructions – Additional thickened tissue or excessive fat stores around the airway can restrict the airflow, and any air that squeezes past can cause the loud snoring typically associated with OSA.

Brain function – In central sleep apnea (CSA), the neurological controls for breathing are faulty, causing the control and rhythm of breathing to malfunction. CSA is usually associated with an underlying medical condition, such as a stroke or heart failure, recent ascent to high altitude, or the use of pain relief medication.

Obstructive sleep apnea

• Excess weight – People who are obese have four times the risk of sleep apnea that people who are a normal weight people do. Fat deposits around your upper airway may obstruct your breathing. But not everyone who has sleep apnea is overweight.
• Neck circumference – People with thicker necks may have narrower airways. For men, the risk increases if neck circumference is 17 inches (43 centimeters) and larger. In women, the risk increases if neck circumference is 15 inches (38 centimeters) or more.
• A narrowed airway – You may have inherited a naturally narrow throat. Or, tonsils or adenoids may become enlarged and block the airway, particularly in children with sleep apnea.
• Being male – Men are twice as likely to have sleep apnea. However, women increase their risk if they’re overweight, and their risk also appears to rise after menopause.
• Being older – Sleep apnea occurs significantly more often in older adults.
• Family history – If you have family members with sleep apnea, you may be at increased risk.
• Use of alcohol, sedatives or tranquilizers – These substances relax the muscles in your throat.
• Smoking – Smokers are three times more likely to have obstructive sleep apnea than are people who’ve never smoked. Smoking may increase the amount of inflammation and fluid retention in the upper airway. This risk likely drops after you quit smoking.
• Nasal congestion – If you have difficulty breathing through your nose — whether it’s from an anatomical problem or allergies — you’re more likely to develop obstructive sleep apnea.

Central sleep apnea

• Being older. Middle-aged and older people have a higher risk of central sleep apnea.
• Heart disorders – People with congestive heart failure are more at risk of central sleep apnea.
• Using narcotic pain medications – Opioid medications, especially long-acting ones such as methadone, increase the risk of central sleep apnea.
• Stroke – People who’ve had a stroke are more at risk of central sleep apnea or treatment-emergent central sleep apnea.

Symptoms of Apnea/Sleep Apnea

• Waking up with a very sore or dry throat
• Loud snoring, which is usually more prominent in obstructive sleep apnea
• Episodes of breathing cessation during sleep witnessed by another person
• Abrupt awakenings accompanied by shortness of breath, which more likely indicates central sleep apnea
• Awakening with a dry mouth or sore throat
• Difficulty staying asleep (insomnia)
• Excessive daytime sleepiness (hypersomnia)
• Attention problems
• Irritability
• Occasionally waking up with a choking or gasping sensation
• Sleepiness or lack of energy during the day
• Sleepiness while driving
• Morning headaches
• Restless sleep
• Forgetfulness, mood changes, and a decreased interest in sex
• Recurrent awakenings or insomnia

Diagnosis of Apnea/Sleep Apnea

• EEG (electroencephalogram) – to measure and record brain wave activity.
• EMG (electromyogram)  – to record muscle activity such as face twitches, teeth grinding, and leg movements, and to determine the presence of REM stage sleep. During REM sleep, intense dreams often occur as the brain undergoes heightened activity.
• EOG (electro-oculogram) – to record eye movements. These movements are important in determining the different sleep stages, particularly REM stage sleep.
• Nocturnal polysomnography –  During this test, you’re hooked up to equipment that monitors your heart, lung and brain activity, breathing patterns, arm and leg movements, and blood oxygen levels while you sleep.
• Home sleep tests – In some cases, your doctor may provide you with simplified tests to be used at home to diagnose sleep apnea. These tests usually involve measuring your heart rate, blood oxygen level, airflow and breathing patterns.
• ECG (electrocardiogram) – to record heart rate and rhythm.
• Nasal airflow sensor to record airflow.
• Snore microphone to record snoring activity.

Severity Test of Apnea/Sleep Apnea

Home Sleep Apnea Testing (HSAT) can be done in place of the laboratory study. The number of apnea episodes that occur every hour determines sleep apnea severity:

• Normal – 0-5 apnea episodes per hour.
• Mild sleep apnea – 5-15 apnea episodes per hour.
• Moderate sleep apnea – 16-30 apnea episodes per hour.
• Severe sleep apnea – 31+ episodes per hour.

Treatment of Apnea/Sleep Apnea

Throat exercises

• Press your tongue flat against the floor of your mouth and brush top and sides with a toothbrush. Repeat brushing movement five times, three times a day.
• Press the length of your tongue to the roof of your mouth and hold for three minutes a day.
• Place a finger into one side of your mouth. Hold the finger against your cheek while pulling the cheek muscle in at same time. Repeat 10 times, rest, and then alternate sides. Repeat this sequence three times.
• Purse your lips as if to kiss. Hold your lips tightly together and move them up and to the right, then up and to the left 10 times. Repeat this sequence three times.
• Place your lips on a balloon. Take a deep breath through your nose then blow out through your mouth to inflate the balloon as much as possible. Repeat five times without removing balloon from your mouth.
• Gargle with water for five minutes, twice a day.
• Lightly hold your tongue between your teeth. Swallow five times. Repeat this five times a day.

Therapies of Apnea/Sleep Apnea

Treatment for associated medical problems 

Possible causes of central sleep apnea include heart or neuromuscular disorders, and treating those conditions may help. For example, optimizing therapy for heart failure may eliminate central sleep apnea.

Supplemental oxygen 

Using supplemental oxygen while you sleep may help if you have central sleep apnea. Various forms of oxygen are available as well as different devices to deliver oxygen to your lungs.

Adaptive servo-ventilation (ASV)

This more recently approved airflow device learns your normal breathing pattern and stores the information in a built-in computer. After you fall asleep, the machine uses pressure to normalize your breathing pattern and prevent pauses in your breathing. ASV appears to be more successful than other forms of positive airway pressure at treating complex sleep apnea in some people.

Continuous positive airway pressure (CPAP) 

This method, also used in obstructive sleep apnea, involves wearing a pressurized mask over your nose while you sleep. CPAP may eliminate snoring and prevent sleep apnea. As with obstructive sleep apnea, it’s important that you use the device as directed. If your mask is uncomfortable or the pressure feels too strong, talk with your doctor so that adjustments can be made.

Bilevel positive airway pressure (BiPAP or BPAP) 

Devices can be used for those who are unable to adapt to using CPAP, or for central sleep apnea sufferers who need assistance for a weak breathing pattern. This device automatically adjusts the pressure while you’re sleeping, providing more pressure when you inhale, less when you exhale. Some BiPAP devices also automatically deliver a breath if it detects you haven’t taken one for a certain number of seconds.

Surgery of Apnea/Sleep Apnea

Nasal surgery 

Correction of nasal problems such as a deviated septum.

Uvulopalatopharyngoplasty (UPPP) 

A procedure that removes soft tissue on the back of the throat and palate, increasing the width of the airway at the opening of throat.

Mandibular maxillomandibular advancement surgery 

Surgery to correct certain facial problems or throat obstructions that contribute to sleep apnea.

Complications of Apnea/Sleep Apnea

Sleep disorders have also been associated with a number of complications and other conditions.

• motor vehicle accidents
• impaired cognition and difficulty focusing
• metabolic syndrome
• mood changes
• hypertension
• stroke
• glaucoma
• memory troubles
• chronic fatigue
• decreased quality of life
• increased risk of mortality
• headaches
• dry mouth or sore throat after sleeping with the mouth open

Home Remedies of Apnea/Sleep Apnea

Chamomile Tea

One of the simplest natural home remedies for sleep apnea is a cup of chamomile tea before you go to sleep. The substances found in chamomile are believed to help the nerves relax, which makes it easier for us to sleep

• Prepare dried chamomile flowers and boiling water.
• Take 2 spoons of chamomile into a glass of water.
• The mixture should be covered and steeped in about 5 minutes.
• Then, you will strain the mixture and pour raw honey to improve the flavor.
• Consume the tea every night.

Lavender

The second natural home remedy for sleep apnea is lavender, as it can be used to cope with its symptoms efficiently. With soothing quality, lavender is powerful enough to remove the obstruction in your throat which prevents you from having a good sleep.

You can take advantage of lavender oil in many ways.

• Mix some drops with boiling water and breathe in before you hit the sack.
• Alternatively, you can pour several drops of lavender oil into your pillow.

Almond

Among the best natural home remedies for sleep apnea, we need to mention almond. This small ingredient can supple the body with a high amount of magnesium that enables the muscles to relax more. As a result, the body will feel more comfortable and sleep becomes easier. Furthermore, the biological clock of your body can be put under control with the help of almonds.

To get the best results, on a daily basis, you ought to consume almonds which are soaked in water for one night.

Honey

The sweetness of honey is beneficial for the sleep apnea treatment. The fact is that it can be considered as one of the most effective natural home remedies for sleep apnea and you can easily find it no matter where you live. Honey is also a great prevention for snoring, which may make you embarrassed in many situations

Moreover, honey can support you greatly if you intend to lose weight. As obesity is one of the main causes for sleep apnea, losing some weight is a great idea to get rid of sleep apnea soon.

• Take one spoon of honey into warm water.
• Consume the water before you hit the sack every day.

Turmeric

With anti-inflammatory quality, turmeric is claimed to fight against the inflammation that can take place in your respiratory system This will reduce the times you stop breathing at night. When mixing it with warm milk, you have one of the best natural home remedies for sleep apnea.

• Get a spoon of powdered turmeric into milk.
• They should be steeped in only a few minutes.
• You can pour a spoon of raw honey.
• Consume the mixture at least half an hour before you go to bed.

Peppermint

From simple ways to fall asleep, you can get another natural home remedy for sleep apnea, like the case of peppermint. It can also stop you from snoring, which may disturb many people at night.

You can use either peppermint oil or peppermint tea to get rid of sleep apnea.

• Crush some peppermint leaves first and put them into boiling water.
• They had better be covered and steeped in more or less than 10 minutes before being strained.
• Consume the tea with or without honey.

Cardamom

Known as a great spice in cooking, cardamon now is getting more and more attention as one of the best natural home remedies for sleep apnea. It works as efficiently as drugs in soothing your throat and respiratory system. This enables you to breathe more easily, even during the sleep.

• Prepare powdered cardamon and take 1-2 spoons of it into warm water.
• Consume the mixture half an hour before you hit the sack every night.

Quit Smoking

The unwanted effects of smoking on our lungs are well-known. And you should know that there is a close connection between your respiratory system and sleep apnea.Therefore, if you want to get rid of sleep apnea which is caused by the obstruction, you need to give up smoking immediately.

Banana

Banana is such a nutritious fruit and a lot of people, including me, love it. It has been well-known for many amazing health benefits, including weight loss. However, it would be a flaw if we forgot that banana actually provides many minerals to enhance our muscles and nerves. For this reason, it is one of the best natural cures for sleep apnea.

Epsom Salt

Simple as it might look, epsom salt is actually among top natural cures for sleep apnea. This practise was even suggested by naturopathic practitioners to overcome sleep apnea. To explain, epsom salt contains a plenty of magnesium which helps to relax sore muscles.

Cinnamon

Cinnamon has a wonderful sedative nature. This is why it appears as a great tip on how to stop sleep apnea. For years, people have commonly used it to get rid of many problems related to our breathing system.

How to do:

• Get a cinnamon stick in boiling water. You can pour grated ginger as well
• Continue to boil them in a few minutes and then, get them strained
• Pour honey before drinking it

The ideal time for this sleep apnea relief is also before you go to bed at night.

Walnuts

In spite of its smallness, walnut is another great sleep apnea relief. It provides a significant number of compounds and antioxidants which have positive effects on the quality of your sleep. The best time to use this new sleep apnea treatment is before you go to bed.

Indian Gooseberry

Indian gooseberry is the next among top solutions for sleep apnea that we would like to embrace. This ingredient is packed with a lot of vitamins; however, among them, vitamin C plays the most important role in the sleep apnea cures. It has wonderful effects on the immunity and against infections.

How to do:

• Get one teaspoon of its powder into warm water
• Drink it once per day

If possible, you can replace water with honey to speed up obstructive sleep apnea treatment even more.

Garlic

The anti-inflammatory quality of garlic is absolutely necessary for the sleep apnea treatment. It is also a great home remedy for tonsils which helps you stay away from snoring.

You can chew some garlic cloves raw before eating anything. Then, have a cup of water to get rid of sleep apnea quickly.

Lose Weight

Reports showed that sleep apnea is seen more frequently in obese people. As a result, one of the most effective natural home remedies for sleep apnea is to lose weight. You can combine exercises with diet to get the best results.

Avoid Alcohol

Like cigarettes, alcohol puts our health at risk. Alcohol should be applied over the skin in some cases to cure some specific problems, and it shouldn’t be taken in the body under any circumstance. It will worsen some symptoms of sleep apnea, such as snoring. If you do not want to waken your partner at midnight by the sound of your snoring, you’d better quit alcohol

Olive Oil

Olive oil is one of the most popular natural home remedies for sleep apnea. It can help the nasal passage open to improve the air flow into the body. Besides, if you use olive oil regularly, you will be free from worries about swelling in the throat.

• Take ½ spoon of olive oil into about a spoon of raw honey.
• Consume the mixture before you go to bed.

Elevating Your Head

The position of your head when you sleep has great impacts on whether you suffer from sleep apnea or not. It is recommended that you place some pillows to keep your head up during the sleep to get rid of sleep apnea and its uncomfortable symptoms.

References