ConnectABILITY Homepage

Tourette Syndrome

Fact Sheet

What is Tourette Syndrome?

Tourette Syndrome (TS) is a neurological disorder which becomes evident in early childhood or adolescence between the ages of 2 and 15 years. Tourette Syndrome is defined by multiple motor and/or vocal tics lasting for more than one year. Tics are defined as sudden, intermittent, repetitive, unpredictable, purposeless, non-rhythmic, involuntary movements or sounds. Many people with TS have only motor tics or only vocal tics. The first symptoms usually are involuntary movements (tics) of the face, arms, limbs or trunk. These tics are frequent, repetitive, and rapid. The most common first symptom is a facial tic (eye blink, nose twitch, grimace), and is replaced or added to by other tics of the neck, trunk, and limbs.
These involuntary (outside the person’s control) tics may also be complicated, involving the entire body, such as kicking and stamping. There are also verbal tics. These verbal tics (vocalizations) usually occur with the movements. Later, they may replace one or more motor tics. These vocalizations include grunting, throat clearing, shouting, and barking. The verbal tics may also be expressed as coprolalia (the involuntary use of obscene words or socially-inappropriate words and phrases) or copropraxia (obscene gestures).

How is it manifested?

Simple:
Motor – eye blinking, head jerking, shoulder shrugging, and facial grimacing
Vocal – throat clearing, yelping and other noises, sniffing, and tongue clicking

Complex:
Motor – jumping, touching other people or things, smelling, twirling about and, although very rare, self-injurious actions including hitting or biting oneself
Vocal – uttering ordinary words or phrases out of context, echolalia (repeating a sound, word, or phrase just heard), palilalia (repeating one’s own words) and in rare cases, coprolalia (vocalizing socially-unacceptable words)

The range of tics or tic-like symptoms that can be seen in Tourette Syndrome is enormous. The complexity of some symptoms often confuses family members, friends, teachers, and employers who may find it hard to believe that the actions or vocal utterances are “involuntary”.

Who is affected?

While once thought to be rare, TS is now seen as a relatively common disorder affecting up to 1 person in every 2,500 in its complete form and three times that number in its partial expressions that include chronic motor tics and some forms of obsessive-compulsive disorder. One in 100 Canadians has Tourette Syndrome. TS is a genetic condition. Studies indicate that a person with TS has a 5-15% chance of having a child, sibling, or parent with the condition.

How is it diagnosed or detected?

A diagnosis is made by observing symptoms and by evaluating the history of their onset. No blood analysis, X-ray or other type of medical test exists to identify TS. A doctor may, however, wish to order an EEG, CAT scan or certain blood tests to rule out other ailments that could be confused with TS.

Additional Resources:

Tourette Syndrome Foundation of Canada (TSFC) – www.tourette.ca
The Foundation disseminates educational material to individuals, professionals and agencies in the fields of health care, education and government through its local affiliates. These Chapters, Resource Units and Contact Representatives across the country help TS patients and their families cope with the problems that so often occur with a diagnosis of TS.

Life’s A Twitch – www.lifesatwitch.com
“Life’s a Twitch” is a website based on Tourette Syndrome and associated disorders from the study and clinical work of B. Duncan McKinlay, Ph.D., C.Psych., a Canadian Psychologist registered to work with children and adolescents in the areas of clinical and school psychology.

Tourette Syndrome – Now What? – http://tourettenowwhat.tripod.com/
This site raises awareness about the full spectrum of Tourette’s Disorder, with support and accurate information based on the latest research.

Books and Literature:

Children with Tourette Syndrome: A Parents’ Guide
By Tracy Lynn Marsh

Kids in the Syndrome Mix of ADHD, LD, Asperger’s, Tourette’s, Bipolar and More!: The One Stop Guide for Parents, Teachers, and Other Professionals
By Martin Kutscher

Tourette’s Syndrome: Finding Answers and Getting Help
By Mitzi Waltz

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

Talking Matters

A guide to communicating with your child

Toronto Preschool Speech and Language Services: A community partnership designed to deliver speech and language services for infants, toddlers, and preschool children. This tip sheet tells you how most children learn to communicate and respond to language at different ages.

Babies (0-24 months) learn to communicate by listening to voices and sounds. A baby soon learns to make sounds to tell you how they feel or what they want. Babies develop at their own rate. Some babies do things at a young age; some will take a little longer.

Which language should I use with my child?

Many children grow up in homes where languages other than English (or French) are spoken. Parents often wonder which language they should use with their child. The research shows that it is important to maintain family and cultural connections with the child’s home language. Therefore, parents should use the language or combination of
languages that they would typically use at home.

If your child’s first language is not English, please use the suggestions in this brochure in the home language of your child.

When determining whether your child has a speech and/or language delay, your child’s skills in their first language should be used.

BY SIX MONTHS

Does your child:

  • startle in response to loud noises?
  • turn to where a sound is coming from?
  • make different cries for different needs (hungry, tired)?
  • watch your face as you talk to her/him?
  • smile/laugh in response to your smiles and laughs?
  • imitate coughs or other sounds such as ah, eh, buh?

Call for help if your baby

  • Does not react to your voice or other sounds.
  • Does not smile or make sounds when awake.
  • Does not seem to enjoy interacting with you
  • Does not look at you or try to get your attention

What you can do:

  • Pause in the middle of a song. Watch for your baby to ask for more; finish singing the song.
  • Name objects your baby touches or looks at (“Oh, a diaper. You’ve got the diaper.”).
  • Shake noise makers in front of your baby, then stop. See if your baby asks for more by looking for it or by imitating the action. Then shake it again.
  • Sing lots of songs or nursery rhymes (Peek-a-Boo, Pat-a-Cake, Up & Down, tickle games).
  • Talk to your baby when you are washing, dressing or feeding them.
  • Use gestures with your words (eg. hands up when saying “up”)
  • During bath time, name each body part as you wash it. Play games like “This Little Piggy Went to Market”; “Head and Shoulders, Knees, and Toes”.
  • Put a favourite toy in front of your baby just out of reach. Wait and see how they show you they want it.
  • Show your baby picture books and talk about what you see.
  • Make fun sounds with your baby, like “shhhh”, “boom”, “uh oh” and animal sounds
  • Exaggerate your facial expressions and tone of voice
  • Get down on the floor and play with your baby

BY 12 MONTHS

Does your child:

  • follow simple one-step directions (sit down)?
  • look across the room to a toy when adult points at it?
  • consistently use three to five words?
  • use gestures to communicate (waves hi/bye, shakes head for no)?
  • get your attention using sounds, gestures and pointing while looking at your eyes?
  • bring you toys to show you?
  • perform for social attention and praise?
  • combine lots of sounds together as though talking (abada baduh abee)
  • show an interest in simple picture books?

Call for help if your child

  • Does not make sounds or babble.
  • Does not show interest in you or other people.
  • Does not actively take turns in familiar games with adults (handing something back and forth, knocking down stacked blocks, dumping out containers, banging on pots).
  • Does not try to show you things by looking or reaching.

What you can do

  • Talk about things you see and what people are doing during the day and as you look at books.
  • During everyday activities, talk about what you are doing using short sentences.
  • Name pieces of clothing and body parts for your child (“shoe off”, “hat on”).
  • Play: “Where did you go?” when putting clothing over your child’s head.
  • Sing simple songs with actions. Help your child to copy your actions and sounds (“Ring Around the Rosie”, “Row, Row, Row Your Boat”).
  • Sing children’s songs in the language that you use at home.
  • Talk in short sentences (“Want some milk?” or “Whoops! Fall down”. “Oh, baby is crying.”).
  • Play Peek-a-Boo by taking turns hiding behind your hands, a towel or blanket. Move it away saying: “Where’s Daddy?, Here I am,” or “Peek-a-Boo.”

BY 18 MONTHS

Does your child:

  • understand the meaning of in and out, off and on?
  • point to several body parts when asked?
  • use at least 20 words consistently?
  • respond with words or gestures to simple questions (Where’s teddy? What’s that?)
  • demonstrate some pretend play with toys (gives teddy bear a drink, pretends a bowl is a hat)?
  • make at least four different consonant sounds (p ,b, m, n, d, g, w, h)?
  • enjoy being read to and sharing simple books with you?
  • point to pictures using one finger?

Call for help if your child

  • Is not trying to talk.
  • Does not make gestures or sounds.
  • Started to use words, but stopped.

What you can do:

  • Take turns with your child. Bang on pots and pans, blow bubbles, push toy cars and trains, feed the baby doll.
  • Get down and play like your child does.
  • Use action words like “roll ball,” “drink milk,” “wash hands”
  • Go for a walk. Talk about what is happening.
  • Show your child picture books and talk about what you see. Remember that you can make up words to the story and read to your child in the language you use at home.
  • Visit places like the grocery store, Early Years Centre, library, and zoo and use these trips to teach your child new words

BY TWO YEARS

Does your child:

  • follow two-step directions (Go find your teddy bear and show it to Grandma.)?
  • use 100 to 150 words?
  • use at least two pronouns (you, me, mine)?
  • consistently combine two to four words in short phrases (Daddy hat. Truck go down.)?
  • enjoy being around other children?
  • begin to offer toys to other children and imitate their actions and words?
  • use words that are understood by others 50 to 60 per cent of the time?
  • form words or sounds easily and without effort?
  • hold books the right way up and turn the pages?
  • read to stuffed animals or toys?
  • scribble with crayons?

Call for help if your child

  • Lacks awareness or interest in others.
  • Cannot be understood by you at least half the time
  • Does not put two words together.
  • Does not use a variety of words (actions, descriptors, locations, etc)
  • Stutters

What you can do

  • Take your child to an Early Years Centre, a library, and/or other places with fun programs for children.
  • Take turns tickling, feeding, and rocking dolls or teddy bears.
  • Sing simple songs with actions (Eensy Weensy Spider, Round and Round the Garden).
  • Repeat back what your child is trying to say with the correct grammar (Child: “Mommy work.” Adult: “Yes. Mommy is at work.”).
  • Talk about what you are doing during daily activities.
  • Use two to four word sentences when talking (“Look up! I see a cat.”)
  • Expand your child’s world by introducing new people and new places. Talk about the experience before you go, while you are there and when you get home.
  • Hide objects under/behind pillows, blankets, furniture. Ask: “Where’s the ball?” or “Find the teddy.”
  • Point to and talk about people and things when looking at books
  • Remember to tell stories from your home language and culture.
  • Look at your child when you are talking to each other.

Between the ages of two and four years a child’s speech and language develops quickly. The number of words they can say increases rapidly and they put together longer and longer sentences. They begin to ask many questions during their everyday activities. They enjoy listening to stories and music. Often they will ask you to read the same story over
and over again. Sometimes they will remember the words in the stories so well, it will seem like they can almost read.

BY THREE YEARS

Does your child:

  • understand who, what, where and why questions?
  • create long sentences using five to eight words?
  • talk about past events (trip to grandparents house, day at child care)?
  • tell simple stories?
  • show affection for favourite playmates?
  • engage in multi-step pretend play (pretending to cook a meal, repair a car)?
  • talk in a way that most people outside of the family understand what she/he is saying most of the time?
  • have an understanding of the function of print (menus, lists, signs)?
  • show interest in, and awareness of, rhyming words?

Call for help if your child

  • Acts frustrated when trying to communicate.,
  • Does not put more than three words together.
  • Does not seem to understand what you are saying.
  • Is not understood most of the time by others.
  • Stutters

What you can do

  • Describe things that are happening using sentences (“I’m really HUNGRY. That’s a HUGE bite.”).
  • Talk about how things are the same or different.
  • Arrange times for your child to play with other children his/her own age.
  • Repeat what your child says using correct sounds and sentences (Child: “Me want doose.” Adult: “I want juice too. I like juice!”).
  • Play games together.
  • Add information to what your child says (Child: “There are flowers” Adult: “That’s a daffodil and a tulip. They grow in the spring.”).
  • Ask your child to be a helper and give them small jobs to do.
  • Read books with pictures and take turns telling little stories about the pictures.
  • Play make-believe with or without toys (pretend to go shopping, dress-up, play with pretend toy garages/kitchen sets,).
  • Sort pieces of clothing together while doing laundry (sort by colours, who they belong to, where they go, type of clothing).

BY FOUR YEARS

Does your child:

  • follow directions involving three or more steps (First get some paper, then draw a picture and give it to Mommy.)?
  • tell stories with a beginning, middle and end?
  • try to solve problems with adults and with other children using words?
  • show increasingly complex imaginary play?
  • talk in a way that he/she is understood by strangers almost all the time?
  • generate simple rhymes (cat-bat)?
  • match some letters with their sounds (letter b says buh, letter t says tuh)?

Call for help if your child

  • Is not understood almost all the time by others.
  • Does not use complete sentences.
  • Stutters.

What you can do:

  • Talk about what you and your child are doing/interested in.
  • Play simple board games/card games helping them to match and name colours/shapes, count, and follow directions (Snakes & Ladders, Go Fish).
  • Repeat clearly words and sentences your child has difficulty saying (Child: “Him “wunning” outside.” Adult: “Yes, he is. He is running outside.”).
  • Let your child make up and tell stories using puppets, toys, objects, books or pictures
  • Read longer stories to your child.
  • Give your child opportunities to regularly play with children his/her own age.

This material has been adapted from First Words (Ottawa-Carleton Preschool Speech and Language Service) and The Language Express (Preschool Speech and Language Services System of Lanark, Leeds and Grenville).

For Help

For help call the Central Referral and
Information Line
416-338-8255
416-338-0025 (TTY)

Or call your local Quadrant
East Quadrant 416-281-7445
Rouge Valley Health System Centenary Site

North Quadrant 416-491-1230
North York General Hospital

South Quadrant 416-921-4498
The Hanen Centre

West Quadrant 416-622-8315
The George Hull Centre

French Language 416-491-1230
Services (En Français)
North York General Hospital

Sensory Processing Disorder (SPD)

Fact Sheet

What is Sensory Processing Disorder (SPD)?

Sensory Processing Disorder (SPD), previously known as Sensory Integration Dysfunction –SID, is a complex disorder of the brain that affects developing children and adults. People with SPD misinterpret everyday sensory information, such as touch, sound, and movement. They may feel bombarded by information, seek out intense sensory experiences, or have other symptoms.

“Sensory processing” refers to our ability to take in information through our senses (touch, movement, smell, taste, vision, and hearing), organize and interpret that information, and make a meaningful response. For most people, this process is automatic. When we hear someone talking to us, or a bird chirping, our brains interpret that as speech, or an animal sound, and we respond to that information appropriately.

Children who have a Sensory Processing Disorder (SPD), however, do not experience this process in the same way. SPD affects the way their brains interpret the information that they take in and also how they act on that information in terms of emotional, behavioural, motor, and other responses.

How is SPD manifested?

There are several types of Sensory Processing Disorder. Each one may result in a number of different behavioural and sensory patterns. Some of the most common behaviour patterns are described below:

Sensory-Avoiding Children

Some children with SPD are over-responsive to sensation. Their nervous systems feel sensation too easily or too intensely, and they feel as if they are being constantly bombarded with information.

Consequently, these children often have a “fight or flight” response to sensation. This condition is called “sensory defensiveness”. They may try to avoid or minimize sensations, such as by avoiding being touched, or being very particular about clothing.

These children may

  • respond to being touched with aggression or withdrawal
  • fear movement and heights, or get sick from exposure to movement or heights
  • be very cautious and unwilling to take risks or to try new things
  • feel uncomfortable in loud or busy environments, such as sports events or malls
  • be very picky eaters and/or overly sensitive to food smells

These children may be diagnosed with Sensory Over-Responsivity.

Sensory-Seeking Children

Some children are under-responsive to sensation. Their nervous systems do not always recognize the sensory information that is coming into the brain.

As a result, they seem to have an almost insatiable desire for sensory stimulation. They may seek out constant stimulation or more intense and/or prolonged sensory experiences, such as taking part in extreme activities or moving constantly.

Some behaviours seen in these children include

  • hyperactivity as they seek more sensation
  • unawareness of touch or pain, or touching others too often, or too hard (which may seem like aggressive behaviour)
  • taking part in unsafe activities, such as climbing too high
  • enjoying sounds that are too loud, such as a very loud television or radio

These children may be diagnosed with Sensory Under-Responsivity.

Motor Skills Problems

Other children with SPD have trouble processing sensory information properly, resulting in problems with planning and carrying out new actions. They have particular difficulty with forming a goal or idea, or developing new motor skills.

These children may have

  • poor fine motor skills, such as handwriting
  • poor gross motor skills, such as kicking, catching, or throwing a ball
  • difficulty imitating movements, such as when playing “Simon Says”
  • trouble with balance, sequences of movements, and bilateral coordination
  • a preference for familiar activities or play, such as lining up toys
  • a preference for sedentary activities, such as watching TV, reading a book, or playing video games

These children may get frustrated easily and may seem manipulative and controlling. Some may try to compensate with an over-reliance on language and may prefer fantasy games to real life. They may also try to mask their motor planning problems by acting like a “class clown” or avoiding new group activities.

These children may be diagnosed with Dyspraxia (sensory-based) Motor Planning Disorder.

Who is affected?

Studies show that as many as five percent of all children suffer from SPD or approximately 1 in 20 children. Yet despite this high rate, information and help for those with this disorder is still very limited. This lack of resources, combined with the fact that SPD often looks like other disorders, often results in misdiagnosis and inappropriate treatment for many children.

How is SPD diagnosed or detected?

While many children display the above behaviours, consider whether a child shows them more often and more dramatically than other children of the same age. Behavioural signs include

  • over- or under-sensitivity to touch, sounds, sights, movement, tastes, or smells
  • intense, out-of-proportion reactions to everyday experiences
  • resistance to changes in routines and moving from activity to activity
  • unusually high or low activity level
  • difficulty handling frustration
  • impulsivity, with little (or no) self-control
  • difficulty paying attention and staying focused
  • dislike of getting “messy” (food, sand, glue, paint, lotion), especially on hands or face
  • discomfort with certain clothing fabrics, seams, tags, waistbands, etc.
  • resistance to grooming activities such as brushing teeth, hair washing, or nail cutting
  • avoidance of touch or needing it more than other children
  • unusually high or low pain tolerance
  • fear of movement activities (e.g., swings, see-saw, etc.)
  • avoidance or excessive cravings for slides, swings, bouncing, rocking, jumping
  • poor balance, frequent falls, or awkward running
  • weakness or less coordination than other children his age
  • walking on tiptoes
  • touching of walls or furniture when walking
  • pushing, hitting, biting, or banging into other children although he is not aggressive
  • overly sensitivity to noise (e.g., sirens, vacuum cleaner, etc.)
  • hearing things you do not hear
  • not responding to you, although you know he can hear
  • getting dizzy easily, or never at all
  • squinting, blinking, or rubbing eyes frequently
  • having trouble reading
  • withdrawing, “tuning out,” or crying in group situations
  • avoidance of foods most children of same age enjoy
  • craving or avoiding particular food textures (e.g., chewy, crunchy, slippery, etc.)
  • frequently chewing on clothing or hair
  • difficulty with fine motor tasks (e.g., writing, buttons, stringing beads, using scissors, etc.)
  • poor handwriting and drawing skills
  • speech-language, motor skill, or learning delays
  • inconsistent sleep and hunger patterns

Many children show these signs for a variety of reasons. Some of these behaviours are appropriate at certain ages. Most toddlers can be impulsive (i.e. the terrific but “terrible” two’s). However, a 10-year-old who acts on every little impulse is a different matter. A strong dislike of wool clothing, discomfort making eye contact with strangers, or fear of a goat at the petting zoo that bleats loudly and unexpectedly all fall within the range of so-called typical sensory sensitivity for a child so long as these sensory experiences do not interfere with his/her day-to-day function. A child with sensory problems usually has maladaptive responses to everyday situations and consistently displays behaviours that are not age-appropriate and that cannot be dismissed.

Additional Resources:

STAR Institute for Sensory Processing Disorder – www.spdstar.org
This is a network for families and professionals with resources that can help you learn more about SPD and find effective treatment.

Books and Literature:

Parentbooks – www.parentbooks.ca
Parentbooks offers the most comprehensive selection of resources available anywhere – from planning a family, to everyday parenting issues for special needs of all kinds. The selection of resources for caregivers, counselors, therapists, educators, and clinicians serving the everyday and special needs of families is unequaled. It can help you find exactly what you need for a specific client or situation, and also help you build your professional library.

Building Bridges with Sensory Integration
By Ellen Yack, Shirley Sutton, & Paula Aquilla

Sensory Integration and the Child
By Jean A. Ayres

SenseAbilities – Understanding Sensory Integration
By M. Colby Trott, M.K. Laurel & S.L. Windeck

The Out-of-Sync Child
By Carol Stock Kranowitz

Sensational Kids: Hope and Help for Children with Sensory Processing Disorder
By Lucy Jane Miller

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

Rett Syndrome

Fact Sheet

What is Rett Syndrome?

Rett Syndrome is a childhood neurodevelopmental disorder occurring primarily in girls. Loss of muscle tone is usually the first symptom. Other early symptoms may include problems crawling or walking and diminished eye contact. As the syndrome progresses, the child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is the most disabling feature of Rett Syndrome, interfering with every body movement, including eye gaze, and speech. A common misconception is that Rett Syndrome is a cognitive disorder.

How is it manifested?

  • a period of normal development between 6-18 months
  • normal head circumference at birth followed by a slowing of the rate of head growth with age (starting between 6 months and 4 years)
  • loss of purposeful hand skills at age 1-4 years
  • shakiness of the torso, which may involve the limbs, particularly when the child is upset or agitated
  • unsteady, stiff-legged gait
  • breathing difficulties (hyperventilation, apnea, air swallowing)
  • seizures (approximately 80% have epilepsy)
  • teeth grinding and difficulty chewing
  • intellectual development appears to be severely delayed, but true intelligence is hard to measure
  • impaired expressive and receptive language

Who is affected?

Rett syndrome affects approximately 1 in every 10,000-23,000 live female births, with symptoms usually appearing in early childhood.

How is it diagnosed or detected?

Doctors diagnose Rett Syndrome by observing signs and symptoms during the child’s early growth and development, and by conducting ongoing evaluation of the child’s physical and neurological status. Recently, scientists have developed a genetic test to confirm the clinical diagnosis of this disorder.

Additional Resources:

Ontario Rett Syndrome Association (ORSA) – www.rett.ca
The ORSA site is an information network on Rett Syndrome. It also has parent support groups, public awareness and conferences.

International Rett Syndrome Association (IRSA) – www.rettsyndrome.org
IRSA is a partnership of parents and professionals united in purpose to bring greater understanding of Rett Syndrome. The mission of the IRSA is to support and stimulate biomedical research, to increase public awareness of Rett Syndrome, and to provide information and emotional support to families of children with Rett Syndrome.

Rett Syndrome Research Foundation (RSRF) – www.rsrf.org
RSRT is a research and funding initiative whose website offers up to date information, news and event listings. They also provide a monthly newsletter to subscribers.

Books and Literature:

The Rett Syndrome Handbook: Second Edition
by Kathy Hunter

Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, and Therapists
by Barbara Lindberg

Pathways to Learning in Rett Syndrome
by Jackie Lewis and Debbie Wilson

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

Prader-Willi Syndrome

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

Physical Disability

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.

Packing a Child Friendly Snack

Many kindergarten programs include snack time in the daily routine. This is a great chance for young children to enjoy eating and to chat with their friends. However, it can be a frustrating time for children who have difficulty opening their lunch boxes or food containers. Let’s take a look at some suggestions on packing a snack that is healthy and easy for your child to eat.

Packing Ideas

At home, you probably serve food to your child on a plate, in a cup, or bowl. To help your child be prepared for snack time at school, serve snacks at home with the containers you will send to school. Show him how to open the container and reach for the food inside. Practise unpacking the snack with a picnic in the backyard, at the park, or even at home.

Lunch Box or Bag

To keep food from moving around, use an insulated lunch bag or box. Although a lunch bag is less sturdy, it is much easier to open and close for a child who has difficulty with zippers. If you have a lunch box with zippers, attach a key chain or piece of yarn to the zipper handle. This will make it easier to grasp and open.

Food Containers


Finger foods and sandwiches can be packed in plastic containers with lids. A clear container will let your child know what is inside. Lids with tabs that extend beyond the container are easiest for children to grab and pull off.

Drinks

Young children may have difficulty with drinking boxes because the straw is small and the juice will spill if the box is squeezed. Instead, you could buy your child a plastic ‘drinking box’ with an attached straw that folds. You can fill it with juice or water.

Cutlery

For school, it is best to pack finger foods. If your child needs a child-size spoon for his snack, but has trouble gripping it, cover it with a small piece of foam from a hair curler or insulation tubing, or build up the handle by wrapping masking tape around it several times.
[insert photo]

Snack Ideas

If your child is a fussy eater, try to include at least one food item you know your child likes in his snack. This will give him something to look forward to and help him focus on eating the snack.

Some schools do not allow children to bring food containing peanuts or other nuts. You may want to check with your child’s school regarding its policy. If your child has any food allergies, let the school know as soon as possible.

Finger Foods

Here are some healthy, bite-sized foods that fit in small containers:

  • mini crackers, pita, or cookies
  • grapes
  • orange segments
  • apple slices (squeeze a bit of lemon juice to prevent browning)
  • carrot or pepper slices
  • cheese cubes

Sandwiches

Packing a sandwich in a container with a lid will prevent it from getting squished. Cutting the sandwich into four pieces will make it easier for your child to handle. Here are some fillings that keep well and do not fall out of sandwiches:

  • jam and butter
  • sliced cheese and deli meat
  • tuna fish salad
  • hummus

Yogurts, Pudding and Jell-O

Yogurt, pudding and Jell-O are sold in child-size servings. These are great snacks if your child is able to peel the seal off and eat with a spoon. Choose a thick yogurt or pudding so that it does not slide off the spoon while your child is trying to eat. Put a sticker on the seal or mark it with the pen to help your child remember where to peel.

Involve Your Child in Preparing Snack


Involving your child in preparing the snack can encourage him to eat with enjoyment. This is a good way to teach your child about healthy eating and give him a chance to practise making choices.

You can create menu cards to give your child some choices when choosing a snack. Paste pictures of two or three available snack items on each card. Each card represents a category of food, such as drinks, fruits and treats. Your child can choose an item from each category.

You can also include your child in packing the snack. He can help you count the items and put them into containers.

Ontario Early Years Centres

Visiting your local Ontario Early Years Centre is a great place for you and your child to play and learn together, meet other children and parents in the community, and gather information about community groups or organizations.

An Ontario Early Years Centre is a place for children up to the age of six and their parents and caregivers to participate in programs and activities together.

Ontario Early Years Centres provide all families in Ontario access to free services that help give children a healthy start in life regardless of income, culture, or special needs. Some of the services the centres offer are listed below:

  • early learning and literacy programs for parents and children
  • programs to help parents and caregivers in all aspects of early childhood development
  • programs on pregnancy and parenting
  • links to other early years programs in the community
  • outreach activities so all parents can get involved with their local Ontario Early Years Centre

For parents and caregivers who have limited space and materials, visiting their local Ontario Early Years Centre allows children the opportunity to play with toys and materials that are not available to them in their homes. Many Ontario Early Years Centres have a toy leading library where children can borrow materials to take home and use for a few days. Ontario Early Years Centres often have a resource lending library where parents can borrow books on a variety of parenting topics and child development.

You’ll find a variety of toys, materials, and activities that support children in all areas of development at your local Ontario Early Years Centre, including:

  • cognitive (thinking) skills,
  • literacy (reading and writing) skills,
  • fine motor skills (using small muscle groups),
  • gross motor skills (using large muscle groups),
  • expressive communication (speaking),
  • receptive communication (understanding spoken language and following instructions),
  • sensory skills (using sight, sound, touch, taste, and smell to explore materials),
  • play and social skills, such as sharing and turn-taking.

Ontario Early Years Centres often have activities planned as part of their routine. This allows children to participate in a variety of large group activities, such as a shared snack experience, a music circle, or a story time. The daily activities are planned and facilitated by early childhood professionals. The staff members at Ontario Early Years Centres are also available to answer questions about child development and provide information to parents about other community programs and support services for children and families.

Are there services to help children with special needs?

The physical space and resources in Ontario Early Years Centres are designed to meet the needs of all parents and caregivers with young children. Each Centre is linked to a child and family health agency and/or social service agency in the community. The staff at each Centre can refer parents to other services as needed.

If you are a parent or caregiver of a child up to the age of six, you are welcome at the Ontario Early Years Centre in your community. Currently, there are 103 Ontario Early Years Centres across the province. Many Ontario Early Years Centres also have satellite sites and mobile programs.

To locate the Ontario Early Years Centre in your community, contact The Ministry’s toll-free info line at 1-866-821-7770, or refer to the Ontario Early Years website at www.ontarioearlyyears.ca .

Muscular Dystrophy

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.

Multiple Sclerosis

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.

  1. Home
  2. Articles posted by Jason