Fact Sheet

What is Prader- Willi Syndrome?

Prader-Willi Syndrome (PWS) is a genetic disorder that affects males and females with equal frequency and affects all races and ethnicities. The syndrome is recognized as the most common genetic cause of obesity.

The symptoms of PWS are caused by the dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, such as hunger and satiety, temperature regulation, vomiting, fluid balance, puberty, and fertility.

How is it manifested?

Infants

• hypotonia (weak muscle tone)
• difficulty with feeding because of poor sucking ability
• delayed motor and language development
• respiratory difficulties

Children and Adults

• short stature, small hands and feet (without growth hormone treatment)
• intellectual impairment
• learning deficits such as poor short term memory, difficulty with auditory discrimination
• increased risk of obesity because of a persistent sense of hunger and lack of satiation (hyperphagia), low metabolic rate (60%) and high fat-to-muscle ratio
• serious health problems if weight is not controlled (e.g., diabetes, cardiac and respiratory complications)
• behavioural problems

Who is affected?

The current incidence of Prader-Willi Syndrome is 1 in 15,000 live births.

How is it diagnosed or detected?

A suspected diagnosis of PWS is usually made by a physician based on clinical symptoms. The diagnosis is then confirmed by a blood test. Families who are seeking a diagnosis or who have concerns about the risks should work with a genetics specialist who is knowledgeable about PWS and the latest in testing. The geneticist will arrange to have blood samples sent to an appropriate laboratory for testing.

Additional Resources:

Ontario Prader-Willi Syndrome Association (OPWSA) – www.opwsa.com
OPWSA is a non-profit charity. Their mission is to enhance the quality of life for individuals with Prader-Willi Syndrome. This website contains information for those interested in and affected by Prader-Willi Syndrome and has a support group for parents.

Canadian Prader-Willi Syndrome Organization (CPWSO)
CPWSO is a national, charitable association, dedicated to serving individuals affected by Prader-Willi Syndrome (PWS), their families and interested professionals. Some of the organization’s objectives include promoting broader geographic interest in PWS, seeking increased diagnosis in infancy, liaising with the International Prader-Willi Syndrome Organization and with national affiliates around the world who share similar goals.

International Prader-Willi Syndrome Organization (IPWSO) – www.ipwso.org
IPWSO is an international organization, whose members are the national Prader-Willi Syndrome Associations. IPWSO is committed to enhancing the quality of life for people with PWS and their families, giving these children the best possible opportunities for living their lives to the fullest.

PWS Notes – www.pwsnotes.org
PWS Notes is designed to provide useful background on Prader–Willi Syndrome for parents and to organize medical information that may be helpful for future research directions. This resource was created by a PWS Mom and is particularly dedicated to the new generation of PWS children who are receiving the advantages of early interventions.

Books and Online literature:

Prader-Willi Syndrome-Guide 2005: A Guide for Families and Professionals
By Dr. M. A. Angulo (available at www.ipwso.org)

Management of Prader-Willi Syndrome
By Merlin G. (EDT) Butler, Phillip D. K. Lee, and
Barbara Y. (EDT) Whitman

Prader-Willi Syndrome: Development and Manifestations
By Joyce Whittington and Tony Holland

Fact Sheet

What is a Physical Disability?

A disability is an umbrella term that covers impairments, activity limitations and participation restrictions. An impairment is a problem in body function or structure. Activity limitation is a difficulty encountered by an individual in executing a task or action. A participation restriction is a problem experienced by an individual with involvement in life situations.

A physical disability is any condition that permanently prevents body movement and/or control. There are many different types of physical disabilities.

How is it manifested?

Most common types

1. Neuromuscular disorders: are a group of diseases that weaken the body’s muscles. The causes, symptoms, age of onset, severity and progression vary depending on the exact diagnosis and the individual. When a child has a muscular dystrophy, this means that the muscle fibres in the body gradually weaken over time. Children can have different types of Muscular Dystrophy. The most common type is Duchenne Muscular Dystrophy, which occurs only in boys. All types of Muscular Dystrophy are genetic even though other family members may not have the condition.
2. Acquired brain and spinal injuries may result from permanent injuries to the brain, spinal cord, or limbs that prevent proper movement in parts of the body.
3. Spina Bifida: is a neural-tube birth defect which occurs within the first four weeks of pregnancy. The spinal column fails to develop properly, resulting in varying degrees of permanent damage to the spinal cord and nervous system. Infants born with Spina Bifida may have an open lesion on their spine where significant damage to the nerves and spinal cord occurs. Although the spinal opening is surgically repaired shortly after birth, the nerve damage is permanent. This results in varying degrees of paralysis of the lower limbs, depending largely on the location and severity of the lesion. Even with no visible lesion, there may be improperly formed or missing vertebrae and accompanying nerve damage.
4. Hydrocephalus comes from the Greek word “hydro”, meaning water and “cephalus” meaning head. It is a neurological condition that exists when excess cerebrospinal fluid (CSF) builds up in cavities, called ventricles, inside the brain. Fluid accumulates in the ventricles when the body produces more CSF in a day than it can reabsorb. This accumulation causes enlargement of the ventricles, resulting in Hydrocephalus. Hydrocephalus is usually treated by surgically implanting a shunt that takes excess CSF from the brain to another part of the body.
5. Cerebral Palsy refers to a group of disorders that occur in infancy, affecting a person’s muscular and nervous systems. CP is not a disease or illness, but rather a broad term that describes a group of non-progressive brain disturbances that impair the developing brain’s ability to control some muscles, especially those affecting movement and posture.
6. Stroke happens when blood stops flowing to any part of the brain. This interruption causes damage to the brain cells which cannot be repaired or replaced. The effects of the stroke depend on the part of the brain that was damaged and the amount of damage done.

How is it diagnosed or detected?

Some conditions may be detected at birth. Paediatricians can refer a child to a specialist if concerned about a child’s muscle tone and reflexes.

Additional Resources:

HYDROCEPHALUS CANADA (formerly Spina Bifida and Hydrocephalus Association of Ontario) – https://mybrainwaves.ca/
The organization has grown to provide a comprehensive and essential range of services for parents, families, youth and adults with Spina Bifida and/or Hydrocephalus (SP&H). Programs are rooted in the principles of self-help and personal support. The SBHAO also serves the broader community which includes: parents who receive pre-natal diagnosis of SB&H; extended family members; all women of child-bearing age concerned about the benefits of folic acid in the prevention of neural tube defects; and a wide spectrum of professionals in the social services, medical, health and educational fields.

Ontario Federation for Cerebral Palsy – www.ofcp.ca
The Ontario Federation for Cerebral Palsy is a non-profit, charitable organization with a mandate to address the changing needs of people in Ontario with Cerebral Palsy.

Muscular Dystrophy Canada – www.mdac.ca
Muscular Dystrophy Canada is committed to improving the quality of life for the tens of thousands of Canadians with neuromuscular disorders and funding leading research for the discovery of therapies and cures for neuromuscular disorders. The organization strives to ensure that people with neuromuscular disorders lead full and engaged lives by providing services that increase mobility and encourage independence.

Spinal cord Injury Ontario – www.sciontario.org

March of Dimes – www.marchofdimes.ca

Services for Persons with Disabilities – www.pwd-online.gc.ca
Access to services and information for persons with disabilities, family members, caregivers and all Canadians.

Books and Literature:

It’s OK to Be Me! Just Like You I Can Do Almost Anything!
by Jennifer Moore-Mallinos

Just One of the Kids: Raising a Resilient family When One of Your children Has a Physical Disability
by Kay Harris Kriegsman & Sara Palmer

The Survival Guide fo Kids with Physical Disabilities & Challenges
by Wendy Moss & Susan Taddonio

The Exceptional Child: Inclusion in Early Childhood Education
by K. Eileen

Creative Play Activities for Children with Disabilities – 2nd Edition
by Linda Rappaport

Children with Cerebral Palsy: A Parents’ Guide – Second Edition
Editor: Elaine Geralis

The content contained in this document is for general information purposes. It is not the intention to diagnose or treat a child.

Fact Sheet

What is Muscular Dystrophy?

Muscular Dystrophy is a term that refers to a group of muscle disorders in which the face, arm, leg, spine, or heart muscles gradually shrink and weaken over time. There are a variety of different types of Muscular Dystrophy, including Duchenne Muscular Dystrophy, Myotonic Dystrophy, Becker’s Muscular Dystrophy, Facioscapulohumeral muscular dystrophy, the limb-girdle muscular dystrophies, and the Mitochondrial Myopathies. The different types are distinguished by factors such as the:

• age at which symptoms usually start
• pattern of muscle weakness
• speed at which the disease progresses
• involvement of other tissues besides muscle
• pattern of inheritance

Muscular dystrophy is rare. For example, although Duchenne muscular dystrophy is one of the more common types, it occurs in only 1 out of every 50,000. The other types of muscular dystrophy are even more rare.

How is it manifested?

All Muscular Dystrophies are inherited. Each type of Muscular Dystrophy is associated with a distinct genetic mutation. The nature of the gene mutation and which chromosome it is located on determine the characteristics of the Muscular Dystrophy and the way the disease is passed from one generation to the next.

The symptoms and age of onset depend on the type of muscular dystrophy. Symptoms of muscular dystrophy often include:

• problems with coordination and mobility with frequent falls
• muscle weakness
• joint stiffness

Duchenne muscular dystrophy symptoms appear early, usually between the ages of three and five, or earlier. The condition progresses quickly, with many people needing a wheelchair by the age of 12. Symptoms include those listed above, plus problems with the bones in the back and chest, as well as fatigue. Those with the condition may eventually have trouble breathing and develop pneumonia. This diagnosis can be associated with delays in other areas of development.

Becker’s muscular dystrophy symptoms typically start to appear between the ages of five and fifteen and are much less severe than Duchenne Muscular Dystrophy symptoms. As well as the symptoms listed above, heart disease, problems with the curvature of the spine, fatigue, problems with thinking, and breathing difficulties can occur.

Facioscapulohumeral muscular dystrophy also called Landouzy-Dejerine Muscular Dystrophy has symptoms that include weak facial and shoulder muscles and difficulty with lifting arms, whistling, and closing eyes. It affects mainly the upper body and can also cause hearing loss, speech problems, and changes in heart rhythm. Symptoms often start in the teen years, but may also start at a later stage.

Limb-girdle muscular dystrophies affect the muscles that are closest to the body (shoulder, upper arm, pelvis, and thigh muscles). Symptoms usually start to appear in childhood or early adulthood. The heart and breathing muscles may sometimes be affected.

Mitochondrial myopathies are caused by defects in the genes of the mitochondria, which are specialized units found inside cells that create the energy needed for cells to work. Symptoms include those listed above, plus heart problems, seizures, and problems with vision and hearing.

Myotonic muscular dystrophy is the most common form of adult onset, but can affect people at any age. It is diagnosed by the time individuals reach their late twenties. This type of Muscular Dystrophy can also affect the heart, eyes (cataracts), lungs, digestive tract, and brain function and can be associated with diabetes.

There is, however, a distinct difference between the type that affects newborn infants — Congenital MMD — and the type that begins in adolescence or adulthood — adult-onset MMD.

Infants with congenital MMD have severe muscle weakness, including weakening of the muscles that control breathing and swallowing. These problems can be life threatening and need intensive care.

How is it diagnosed or detected?

In diagnosing any form of Muscular Dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these steps, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done. Further testing may include a muscle biopsy, DNA testing, blood enzyme tests and electromyography (EMG).

The doctor also wants to determine whether the patient’s weakness results from a problem in the muscles themselves or in the nerves that control them. Problems with muscle-controlling nerves, or motor nerves, originating in the spinal cord and reaching out to all the muscles, can cause weakness that looks like a muscle problem but really is not.

Usually, the origin of the weakness can be pinpointed by a physical exam. Occasionally, special tests called nerve conduction studies and EMG are done. In these tests, electricity and very fine pins are used to stimulate and assess the muscles or nerves individually to see where the problem lies. Electromyography is uncomfortable but not usually very painful.

Who is affected?

MD occurs worldwide and affects all races. Its incidence varies, as some forms are more common than others. The most common forms in children, Duchenne and Becker Muscular Dystrophy, affect approximately 1 in every 3,500 -5,000 boys, or between 400 and 600 live male births each year (United Stated source).

Additional Resources:

Muscular Dystrophy Canada – www.muscle.ca
National Office:
Muscular Dystrophy Canada
2345 Yonge St, Suite 900
Toronto, Ontario M4P 2E5
Telephone: 1-866-MUSCLE-8

Muscular Dystrophy Canada’s dedicated volunteers and staff across the country raise funds and work hard to support the independence and full participation of Canadians with neuromuscular disorders, fund research to find a cure and improve the quality of life of people with neuromuscular disorders, assist our clients to participate in the decisions that affect them, and collaborate with others for social change.

Books and Literature:

Muscular Dystrophy in Children: A Guide for Families (ISBN-13: 978-1888799330)
Author: Irwin M. Siegel
This book covers everything from available medical treatments to helping the child grow up with a positive self-image to what the future holds for the treatment of muscular dystrophy and more.

Muscular Dystrophy: The Facts (ISBN-13: 978-0192632173)
Author: Alan Emery
Written specifically for people with muscular dystrophy and their families, this new edition of Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon.

The content contained in this document is for general information purposes. It is not intended to diagnose or treat a child.

Fact Sheet

What is Multiple Sclerosis?

Multiple Sclerosis (MS) is a chronic condition that affects the central nervous system. This system includes the brain and spinal cord. It contains the nerves that control everything your body does, such as thinking, feeling, seeing, smelling, tasting, and moving.

People without MS have nerves that are covered by an intact protective layer known as the myelin sheath. This covering helps to speed electrical signals in the brain. With MS, researchers think that the myelin sheath somehow becomes inflamed and damaged in small patches. It is not known what chain of events starts this damage, but once the injury occurs, electrical signals in the brain are slowed down.

MS is an autoimmune disease (a condition in which an individual’s immune system starts reacting against his or her own tissues) and cannot be spread from person to person. For unknown reasons, the immune system sees the myelin sheath as foreign and attacks it.

There are four types of MS:

• Clinically Isolated Syndrome or CIS is the earliest form of MS. CIS refers to a single episode of neurological symptoms suggestive of Multiple Sclerosis. Often, on investigation using MRI the doctor finds evidence of another abnormality in the brain or spinal cord. Having multiple attacks of symptoms defines relapsing-remitting MS, the most common disease course at the time of diagnosis.
• Relapsing-remitting MS (RRMS) is characterized by unpredictable but clearly defined relapses (also known as attacks, exacerbations or flare-ups) during which new symptoms appear or existing ones get worse. In the period between relapses, recovery is complete or nearly complete) to pre-relapse function (remission).
• Secondary-progressive MS (SPMS) follows a diagnosis of RRMS, Over time, distinct relapses and remissions become less apparent and the disease begins to progress steadily sometimes with plateaus. About half of the people with relapsing-remitting MS start to worsen within 10-20 years of diagnosis, often with increasing levels of disability.
• Primary-progressive MS (PPMS) is characterized by a slow accumulation of disability, without defined relapses. It may stabilize for periods of time, and even offer minor temporary improvement but overall, there are no periods of remission. Approximately 10 percent of people diagnosed with MS have PPMS.
• Progressive-relapsing MS (PRMS) is the rarest course of MS, occurring in only about 5 percent of people diagnosed. People with this form of MS experience relapses with or without recovery and steadily worsening disease from the beginning.

How is it manifested?

Symptoms of Multiple Sclerosis are unpredictable and vary greatly from person to person, and can fluctuate within the same person.

• optic neuritis, inflammation of the optic nerve, presents as sudden onset of visual blurring or loss of vision in one eye, particularly in the ventral visual field
• eye movement may bring on pain, light flashes or other visual symptoms
• management optic neuritis is the initial symptom for 16 per cent of people with MS and is a common occurrence during the course of the disease.
• onset to peak presentation usually happens within 4 days, and most recovery is usually achieved by about 5 weeks, although some improvement may continue up to a year. The pain usually resolves more quickly than the visual acuity.

Who is affected?

MS affects about one in 1,000 people and usually appears between the ages of 20 and 40, although it may occur at any age. Canada has the highest rate of Multiple Sclerosis in the world, with an estimated 100,000 Canadians living with the disease. While it is most often diagnosed in young adults aged 15-40, younger children and older adults are also diagnosed.

Diagnosis:

Neurological tests examine reflexes, eye movements, strength, sensation, and co-ordination. Your medical and family histories will also play an important role in the diagnosis.

Further tests might include:

• Magnetic resonance imaging (MRI), a type of scan that takes pictures of your brain and spinal cord
• Evoked potential, which measures nerve signals from your body to your brain. In MS, these signals are slower and weaker
• Spinal fluid examination, which checks the spinal fluid for signs of MS

To confirm a diagnosis of MS, a person must have signs of disease in different parts of the nervous system and at least two separate flare-ups. However, if a person has suffered only a single attack of symptoms that could be MS, an MRI may be done to evaluate the chance of this progressing to MS. Early treatment of a single flare-up may prevent or delay further relapses.

Additional Resources:

MS Society of Canada – www.mssociety.ca
National Office
Phone: 416-922-6065

The Multiple Sclerosis Society is the source of accurate, up-to-date information about MS, the most common neurological disease affecting young adults in Canada. Select the news releases and other information at the left to obtain the most recent information about exciting research developments and MS Society activities.

Books and Literature:

Multiple Sclerosis: The Guide to Treatment and Management (ISBN-13: 978-1932603514)
Author: Chris H. Polman
Special features include expert opinion statements for each MS therapy; a unique guide to the wide diversity of therapeutic options available; a thorough discussion of the usefulness, effectiveness, and side effects of individual treatments; a new chapter on unconventional therapies; and a detailed guide to further reading.

Multiple Sclerosis: The Facts You Need (ISBN-13: 978-1554700066)
Author: Dr. Paul O’Connor
This fourth edition of Multiple Sclerosis: The Facts You Need is a comprehensive guide to living with MS, supported by diagrams, case histories, a drug table, and an extensive list of helpful books and organizations. Topics include: • What MS is, and who gets it • How MS is diagnosed • Why the disease affects different people in different ways • How “relapsing-remitting” MS differs from “progressive MS” • How people with MS, and their families, can adapt their homes, careers, and lifestyles to cope with the disease • Which treatments work, which don’t, and what help is on the horizon.

The content contained in this document is for general information purposes. It is not intended to diagnose or treat a child.