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Microcephaly

Fact Sheet

What is Microcephaly?

Microcephaly is a medical condition in which the circumference of the head is smaller than expected because the brain has not developed properly, or has stopped growing. Microcephaly can be present at birth, or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down Syndrome, chromosomal syndromes, and neurometabolic syndromes. The cause of Microcephaly in most babies is unknown. Some are affected because of changes in their genes. Microcephaly can also be caused by exposures during pregnancy which include: infections such as rubella (German measles), toxoplasmosis, cytomegalovirus, varicella (Chicken pox), herpes, syphilis, HIV; severe malnutrition; harmful substances such as alcohol, drugs, toxic chemicals; untreated phenylketonuria (PKU); and interruption of the blood supply to the baby’s brain during development. It has also been identified that the Zika virus infection is a cause of Microcephaly and other severe fetal brain defects. Babies born with Microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy.

How is it manifested?

  • head is very small
  • high-pitched cry
  • poor feeding
  • seizures
  • increased movement of the arms and legs (spasticity)
  • developmental delays

Who is affected?

In the general population, Microcephaly due to genetic factors occurs in 1 in 30,000 – 50,000 live births, and in 1 per 10,000 births due to other causes. In some populations, frequency may be as high as 1 in 2,000 births.

How is it diagnosed or detected?

Microcephaly may be diagnosed before birth by prenatal ultrasound (a diagnostic imaging technique which uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs). Ultrasounds are used to view internal organs as they function and to assess blood flow through various vessels.

Diagnostic tests that may be performed to confirm the diagnosis of Microcephaly and identify abnormalities in the brain include:

  • Head circumference – this measurement is compared with a scale for normal growth and size.
  • X-ray – a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
  • Computed Tomography Scan (CT or a CAT scan) – a diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce cross-sectional images (often called “slices”), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including bones, muscles, fat, and organs. CT scans are more detailed than general X-rays.
  • Magnetic Resonance Imaging (MRI) – a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
  • Blood tests
  • Urine tests

Treatments:
Microcephaly is a lifelong condition with no known cure or standard treatment. Microcephaly can range from mild to severe, therefore the treatment options range as well. Infants diagnosed with mild Microcephaly do not experience any problems other than a small head size which requires routine check-ups to monitor growth and development.

Those with severe Microcephaly will need to monitor health problems. Developmental services and early intervention is suggested which can include speech, occupational, and physical therapies. Some medications may need to be used to treat seizures or other symptoms.

Additional Resources:

The Arc of the United States – www.thearc.org
The Arc is the national organization for people with developmental disabilities and their families. It is devoted to promoting and improving supports and services, and fosters research and education.

National Institute of Neurological Disorders and Stroke – www.ninds.nih.gov/
It contains information about what Microcephaly is, if and how it can be treated, the prognosis, and the research. The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research on brain and nervous system disorders. Created by the U.S. Congress in 1950, NINDS is one of the more than two dozen research institutes and centers that comprise the National Institutes of Health (NIH). The NIH, located in Bethesda, Maryland, is an agency of the Public Health Service within the U.S. Department of Health and Human Services. NINDS has occupied a central position in the world of neuroscience for 50 years.

Centres for Disease Control and Prevention – www.cdc.gov

Boston’s Children’s Hospital – http://www.childrenshospital.org

Mayo Clinic – https://www.mayoclinic.org

The Institutes for the Achievement of Human Potential – https://www.iahp.org/microcephaly-success-story/

Books and Literature:

In a Page Pediatrics Signs & Symptoms
By Kathleen O. (EDT) Deantonis, Jonathan E. Teitelbaum, and Scott Kahan

The Official Parents Sourcebook on Microcephaly: A Revised and Updates Directory for the Internet Age
by James N. Parker and Philip M. Parker

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

Mealtime Accommodations

Mealtimes are very important to daily life. They provide special moments for socializing and communicating. It’s also a great opportunity for learning to sit at the table, eat and drink independently. Making the mealtime routine a success requires some special considerations.

As a parent, teacher or early childhood professional, it is important to create a routine that is safe, healthy, positive, and nurturing. Things to consider include: allergies, special diets/food restrictions, and offering food and portions that meet your child’s nutritional needs and his ability to chew and swallow.

A positive and nurturing mealtime environment should include:

  • transitioning to the table
  • setting the rules and expectations for mealtime
  • modeling appropriate behaviours for your child
  • helping your child to learn to feed himself
  • practising communication and social skills at the table
  • doing activities that allow your child to practise the new skills

The following are some suggestions to help you plan the mealtime routine and to ”set the stage” for a positive experience:

Planning the transition to the table

  • Have a short and quiet activity before the meal, such as colouring, reading, or doing puzzles. This will help your child to relax, listen, and to follow directions.
  • Give warnings before the transition. If possible, use verbal and nonverbal reminders to make sure that your child understands your message. For example, you can say, “In five minutes we will tidy up for lunch”, or show your child a picture symbol of “lunch time” to go along with your words.

  • Set a timer to let your child “see” and “hear” that the five minutes are over.
  • If your child is playing before the mealtime, encourage him to clean up. Have a bin for the toys nearby so that your child knows where to put the toys.
  • Get rid of all distractions during mealtime. Make sure that toys are out of sight and the television is off.

Setting clear rules and expectations for mealtime

By setting rules, children understand that certain behaviours are not allowed. Having simple rules to follow will help your child have a sense of self-control and a desire to cooperate.

  • Rules should be said out loud and/or written in two to three-word sentences. You may also want to use visual supports like a rules board and post it near the meal area. (Take a look at the For More Information box at the end of this document for details.)
  • Keep the rules to a minimum.
  • Discuss the rules with your child or children ahead of time. Have them help you make the rules.

Modeling behaviours

You are your child’s best teacher. Your child watches and imitates you, and through repetition, he learns acceptable behaviours. Try the following ideas to promote appropriate table manners:

  • Sit at the table to have the meal with your child or children and model the type of behaviour you expect from him.
  • Have the other children role modeling as well. Have them sit next to, or across from, your child to model self-feeding and appropriate behaviours at the table.

Helping your child to learn to feed himself

Learning to eat and drink independently will take time and lots of practice for your child. By making some adaptations, or changes to the area where your child eats and/or the utensils (fork or spoon) he uses, you’re helping him be independent and build his self-esteem.

Consider the following suggestions to promote independence:

a) Seating arrangements

  • Make sure that your child has his own space at the table.
  • Use placemats to help him identify his own place. You can stick laminated pictures on the mat, or use a specific colour that your child can identify. He will benefit from these visual cues.
  • Make sure the seating arrangements accommodate the needs of your child (e.g., offering a preferred spot at the table, sitting next to an adult or peer if help is needed).

b) Positioning

  • Your child should be able to sit still with his feet on a stable and firm surface. If necessary, use a step stool to provide support for his feet.
  • Use a rubber place mat on the chair to prevent your child from sliding off.
  • If your child uses a wheelchair, make sure that there is a clear path for him to access the table and enough space at the table.

c) Recommendations/adaptations for utensils, plates and cups

  • If possible, use child-sized plates and utensils.
  • If your child has difficulty moving his hands and fingers, he will find it easier to grip a spoon or fork if the handle is enlarged.
  • You can make the handle thicker or longer by securing a sponge hair curler or circular foam piece to it.
  • A plate with a rim will help to keep the food on the plate while your child is learning to scoop.
  • Cups should also be child-sized.
  • As your child transitions from drinking from a bottle to drinking from a cup, pour small amounts of liquid into the cup. This will prevent choking and minimize spilling.
  • Also, teach your child to hold the cup with both hands, until he is ready to grasp the cup with one hand.

d) Easy steps to promote independence

  • At first, you might need to help your child by placing your hand on top of his hand to guide his movements when eating and drinking. Gradually, remove, or minimize your help once your child begins to develop the skills on his own. These strategies are also known as “prompting” and “fading”. See the For More Information box for details.
  • The goal is that, eventually, no support will be needed and your child will be eating by himself.

Practising communication and social skills

You can promote your child’s development of social skills during mealtimes, such as learning to ask for food items. Also, your child may find it exciting to help in setting the table, serving the food, and cleaning up when the meal is finished. In this way, you promote independence, a sense of responsibility, and build his self-esteem.

Doing activities that allow your child to practise the new skills

Set up activities throughout the day for your child to rehearse his “mealtime” skills. You can try activities such as cooking (e.g., preparing a simple meal, or a snack), setting up a restaurant play area and reading stories about mealtimes and playing games such as healthy foods bingo.

The mealtime routine is meant to be an enjoyable experience. The time you invest in planning ahead for this routine will allow you to relax and enjoy the results.

References:

Cook, R.; Tessier, A.; Klein, D. (2000) Adapting Early Childhood Curricula In Inclusive Settings. Fifth Ed., Prentice Hall Inc.

Hydrocephalus

Fact Sheet

What is Hydrocephalus?

Hydrocephalus is sometimes referred to as “water on the brain”. A watery fluid, known as Cerebro-Spinal Fluid, or CSF, is produced continuously inside each of the four spaces or ventricles inside the brain. The CSF normally flows through narrow pathways from one ventricle to the next, then out across the outside of the brain and down the spinal cord. The CSF is absorbed into the bloodstream and re-circulates. The amount and pressure are normally kept within a fairly narrow range. If the drainage pathways are blocked at any point, the fluid accumulates in the ventricles inside the brain, causing them to swell – resulting in compression of the surrounding tissue. In babies and infants, the head will enlarge. In older children and adults, the head size cannot increase as the bones that form the skull are completely joined together.

How is it manifested?

In infants, common signs and symptoms of Hydrocephalus include

  • an unusually large head
  • rapid increase in the size of the head
  • bulging “soft spot” on the top of the head (anterior fontanel)
  • vomiting
  • sleepiness
  • irritability
  • seizures
  • eyes fixed downward (sunsetting of the eyes)
  • developmental delay

In older children and adults, common signs and symptoms of Hydrocephalus include

    • headache followed by vomiting
    • nausea
    • blurred or double vision
  • eyes fixed downward (sunsetting of the eyes)
  • problems with balance, coordination, gait or urination
  • sluggishness or lack of energy
  • slowed development or loss of development
  • memory loss
  • dementia
  • drowsiness
  • irritability
  • changes in personality

Who is affected?

1 in 1000 births are affected by hydrocephalus.

How is it diagnosed or detected?

In early infancy Hydrocephalus is usually detected by the family doctor or paediatrician as a rapidly-enlarging head. This may or may not be associated with symptoms such as vomiting, failure to thrive, irritability, delay, or loss of developmental milestones. Later in infancy and into childhood, there are rarely rapid changes in head size, but rather symptoms as already described. Depending on the child’s age at the time of discovery, various radiographic techniques are available to confirm the diagnosis. In the first six to twelve months of life, the diagnosis can often be made with an ultrasound of the brain.

Additional Resources:

Spina Bifida and Hydrocephalus Association of Canada (SBHAC) – www.sbhac.ca
Since its inception in 1981, the SBHAC has been working on behalf of people with Spina Bifida and/or Hydrocephalus and their families. The Association’s purpose is simple – to make life better for those born with Spina Bifida and/or Hydrocephalus and for those not yet born.

Hydrocephalus Canada (formerly Spina Bifida and Hydrocephalus Association of Ontario) – mybrainwaves.ca
The organization has grown to provide a comprehensive and essential range of services for parents, families, youth and adults with sb/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 a prenatal 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.

The Hydrocephalus Association – www.hydroassoc.org
The Association’s mission is to provide support, education and advocacy for individuals, families and professionals. Its goal is to ensure that families and individuals dealing with the complex issues of hydrocephalus receive personal support, comprehensive educational materials and ongoing quality health care.

Thames Valley Children’s Centre – www.tvcc.on.ca
This is a regional rehabilitation centre for children and young adults with physical disabilities, communication disorders, developmental delays, and autism spectrum disorders, living primarily in Southwestern Ontario. It is a community-oriented Centre providing assessment, diagnosis, consultation and therapy to help young people reach their potential in terms of independence, self esteem and participation in society. It serves more than 6,000 children ranging from newborns to young adults, every year.

Books and Literature:

Hydrocephalus: A Guide for Parents, Families, and Friends (Paperback)
By Chuck Toporek

Current Concepts in Spina Bifida and Hydrocephalus
By Carys M. Bannister and Brian (EDT) Tew

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

Hearing Impairments

Fact Sheet

What is a hearing impairment?

Having a hearing impairment means that a child has lost some hearing in one or both ears. Hearing impairments are described according to how much hearing has been lost. Loss is usually explained as mild, moderate, moderate to severe, severe, or profound.

How is it manifested?

There are different types of hearing loss: conductive, sensory, mixed (conductive and sensory combined), and neural.

  1. Conductive hearing loss
    This happens when there is a problem with part of the outer or middle ear. Most children with conductive hearing loss have a mild hearing loss and it is usually temporary. In most cases, medical treatment helps.
  2. Sensory hearing loss
    This happens when the cochlea (the snail-shaped structure in the inner ear containing the organ of hearing) is not working correctly because the tiny hair cells are damaged or destroyed. Depending on the loss, a child may be able to hear most sounds (although they would be muffled), only some sounds, or no sounds at all. Sensory hearing impairment is almost always permanent and a child’s ability to talk normally may be affected.
  3. Neural hearing loss
    This occurs when there is a problem with the connection from the cochlea to the brain. Neural hearing loss means the nerve that carries the messages from the cochlea to the brain is damaged.
  4. Mild impairment
    The child hears and can understand a normal conversational voice, but will not follow all quiet speech that others can hear and may often ask, “What?”
  5. Moderate impairment
    The child does not hear all of normal conversational speech and requires louder, stronger, and aggressively-toned responses. Some effect on the child’s speech development is likely unless the child receives help.
  6. Severe impairment
    The child will not hear any normal conversation and only a few sounds of loud speech.
  7. Profound impairment:
    The child will hear only the loudest noises and may not get sufficient help even from a hearing aid. Insertion of a cochlear implant (“bionic ear”) may need to be considered.

Who is affected?

Approximately 40 in 10,000 children are born with a hearing loss. An additional 12 in 10,000 will acquire at least a moderate hearing loss by the age of seventeen.

How is it diagnosed or detected?

The type of tests used to diagnose hearing loss depend on the age of the child, but can include:

  • Simple tests, such as shaking a rattle nearby and observing the response (behavioural observation audiometry).
  • Tests such as auditory brainstem response testing, which measure the electrical activity in the brain in response to a sound.
  • Tests with an audiometer – a machine that produces sounds such as beeps and whistles. Whether or not the child can hear certain sounds helps to pinpoint his/her degree of hearing loss.

Additional Resources:

Bob Rumball Association for the Deaf (ONTARIO MISSION OF THE DEAF) – www.bobrumball.org
The Bob Rumball Association for the Deaf and The Ontario Community Centre for the Deaf have amalgamated to support the deaf by providing funding for activities, services and support to further the quality of life for deaf people in Ontario.

Canadian Hearing Society – www.chs.ca
The Canadian Hearing Society provides services that enhance the independence of deaf, deafened and hard-of-hearing people, and encourages the prevention of hearing loss. It provides a range of services including the support of consumer groups in advocacy, consultation and training, mail order assistive devices and educational materials, as well as public education.

Voice for Hearing Impaired Children – www.voicefordeafkids.com
VOICE for Hearing Impaired Children was established in the early 1960’s by parents to offer support to families with children who are deaf and hard of hearing. These parents wanted their hearing-impaired children to be educated alongside their hearing peers in regular schools. By working collectively, they succeeded in achieving this goal and provided the tremendous benefit of sharing information and providing support to one another.

The Canadian Hard of Hearing Association (CHHA) – www.chha.ca
The CHHA works cooperatively with professionals, service providers and government bodies. It provides information about hard-of-hearing issues and solutions. CHHA is Canada’s only nation-wide non-profit consumer organization run by, and for, hard-of-hearing people.
CHHA works to eliminate the isolation, indignation, and frustration of hard-of-hearing and deafened persons by assisting in increasing personal self-esteem and confidence which will lead to total integration in society.

Hospital of Sick Children – www.sickkids.ca
Audiologists at the Hospital for Sick Children are responsible for the assessment of auditory function and the treatment and prevention of auditory dysfunction in children ages 0-18 years. They provide education and counselling for children experiencing hearing difficulties and associated problems.

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, to special needs of all kinds. It also has a selection of resources for caregivers, counselors, therapists, educators, and clinicians.

Choices in Deafness: a Parents’ Guide to Communication Options, 2nd Edition
By Sue Schwartz

Deaf-Blind Infants and Children: A Developmental Guide
By J.M. McInnes and J.A. Treffry

Educating Deaf Students: From Research to Practice
By Marc Marschark

Kid-Friendly Parenting with Deaf and Hard-of-Hearing Children
By Denise Weston

The Kids’ Pocket Signing Guide: The Simple Way to Learn to Sign Using Everyday Phrases
By Mickey Flodin

Taking Hearing Impairment to School (for 5-10 year olds)
By Elaine Ernst Schneider, illustrated by Tom Dineen

Teach your Tot to Sign: The Parents’ Guide to American Sign Language
By Stacy Thompson

The Young Deaf or Hard-of-Hearing Child: A Family Centered Approach to Early Education
By Barbara Bodner-Johnson and Marilyn Sass-Lehrer

The Canadian Dictionary of ASL
By Carole Sue Bailey and Kathy Dolby

Caring for Young Children: Signing for Day Care Providers and Sitters
By S. Harold Collins

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

Getting The Most Out of Team Meetings

Parent and teacher meeting

Over time, as a parent, you may come across a wide range of professionals involved with your child. You may first be involved with people from the medical field, staff from an early intervention program, and eventually school board personnel. It is beneficial to develop positive relationships with the team of professionals supporting you and your child. Regular communication will be needed to:

  • share and update information about your child
  • problem solve (any barriers or obstacles)
  • develop common goals and strategies that can be implemented in your child’s program at school, child care, and at home
  • share successes and progress
  • develop a trust with others working with your child over a long period of time

Preparing for a meeting

Formal and informal meetings with your child’s team will take place for various reasons (e.g., set goals, review programming and strategies). Understanding the purpose of each meeting will help you as the parent and primary decision maker for your child to develop and strengthen your role and relationship with other team members.

At times, it may seem frustrating to answer questions that you have addressed in the past with other professionals. With a little preparation, meetings can be a positive way of sharing critical information about your child. Ask the following questions of the person or primary contact who is organizing the meeting:

  1. What is the purpose of the meeting?
    Meetings may have different purposes. The first time you meet with professionals may be for information sharing only, or may include goal setting and program planning for your child. As your relationship with the team develops, you may continue to meet on a regular basis to review your child’s programming, or to address any new issues.
  2. Who will be at the meeting?
    Ask who will be attending the meeting, the agency they are from and their specific role with your child. If you are unfamiliar with a person from another agency ask for a pamphlet or written information about the agency before the meeting.
  3. What do you need to bring to the meeting?
    During the meeting you may be asked questions about your child and general information about any other services your child is receiving. You can choose to share reports or any documents that you feel will benefit your child during this meeting. These reports may include previous assessment reports and programming notes. It is a good idea to organize your reports and documents in one place, such as a binder. Information can be filed as it is collected and organized for easy access as it is needed.

    The Child Information Binder can help you create a binder or booklet that contains your child’s photograph, information specific to your child’s strengths, interests and needs, and a list of professionals involved with your child. Check out the For More Information box at the end of this document for details.

    Remember that reports and information about your child can only be shared with your agreement. Make sure that you understand why the information is needed and who will be able to see the information. You may be asked for your permission to share information, or to sign a “Consent to Release Information” form.

Tips for a successful meeting

Now that you are prepared for the meeting there are a few things you can do during the meeting to make it successful.

  1. Bring a supportive person with you
    Bring a person with whom you are comfortable to the meeting. It is important that you have someone with you who shares your vision and can help you advocate for other supports you would like for your child. This person may be a professional who is part of the team, a relative, or a friend. Make sure you discuss and agree upon their role before attending the meeting.
  2. Take meeting notes
    It is good to write notes about each meeting. At many meetings, someone will be the designated note-taker. Request a copy of the meeting notes or “minutes”, but keep your own written record as well, just in case.

    In your notes you should include:

    • who attends each meeting
    • what was discussed
    • what decisions were made
    • the actions resulting from the meeting (e.g., changes to programming, requesting services, contacting other professionals)
    • who is responsible for these actions
    • the time frame needed for each action
    • the date of the next meeting

    This will help you remember who is going to do what and when. The Meeting Notes sheet found at the end of this document can help you organize your notes.

  3. Communicate for success
    Building a strong, supportive team can be a challenging task. The benefits of maintaining positive communication with team members, however, can enhance your child’s experience in a program and help to plan for the future. You may not always agree with what professionals suggest or recommend for your child. Even if you don’t agree, the following suggestions may help you build a positive working relationship:

    • Always start and end on a positive note (e.g., saying something good that has taken place in your child’s life, or is now happening). The beginning of a meeting is an excellent time to show your child’s picture to the team members.
    • Give your full attention to each person while they are talking.
    • If you are unsure about any comments during the meeting, ask the person to clarify and provide examples of what they are saying.
    • Make sure you have had an opportunity to share information about your child. You can give suggestions or ideas about things that motivate your child, or activities you do at home. Remember that you are the expert when it comes to your child and the team will value your insight.

If you are feeling overwhelmed at any point during a meeting, you can request that the meeting be stopped for a short period. Do not feel pressured into making decisions on the spot when you really need time to think about them. Tell your team members that you would like to take a few days to think over their input before making a final decision regarding your child’s care or schooling.

Solving Problems

Despite your best efforts, there may be differences of opinion. You will need to work together to find solutions. Try the following steps:

  1. Define the problem/concern
    Share your concerns. If you feel that a decision or outcome of a meeting is not in your child’s best interests, then tell your team. You may be more comfortable with one member of the team and feel confident to talk to her about your concerns. That person is responsible for sharing your concerns with the full team and looking for solutions. Write down any points of discussion that you do not agree with or would like changed. Give a copy of your concerns to the team. It will provide the team members with a clear understanding of your viewpoint and help to develop a plan of action to move forward.
  2. Choose the solutions that almost everyone can accept
    Evaluate all possible solutions and select realistic options. There is no point in looking at solutions that you know will not occur for another 6-12 months. Record who is responsible for what action and establish a timeline of when they will get back to you.
  3. Follow-up and evaluation
    Set a date for a follow-up meeting. At that meeting you will be able to discuss if the solution is working and if further changes are needed. Choose another option if necessary.

The best relationships are built on mutual respect, trust, and openness, where both parents and professionals exchange information and ideas about the best care, medical intervention, or educational program for your child.

Adapted from “OAFCCS Parents as Partners” workshop.

Fragile X

Fact Sheet

What is Fragile X?

Fragile X is a hereditary/genetic condition that can impact families in many ways. It includes Fragile X Syndrome (FXS), the most common cause of genetically-inherited cognitive impairment ranging from subtle learning disabilities and a normal IQ, to severe cognitive or intellectual challenges including autism or “autistic like” behaviour. Symptoms often include unique physical characteristics, behavioural deficits, and delays in speech and language development.

Fragile X also includes Fragile X-associated Tremor Ataxia Syndrome (FXTAS), a balance, tremor and memory condition that affects some older male carriers of the permutation. Fragile X can also include problems for female carriers such as early menopause, medically referred to as premature ovarian failure (POF).

How is it manifested?

Fragile X is the result of a genetic variation in the X chromosome. Specifically, there is a full mutation on one end of the FMR1 gene. This gene contains information about how to make the protein FMRP. Individuals with Fragile X do not make this protein, because the FMR1 gene is not expressed, due to its being replicated more than 200 times. Males with a full mutation experience severe symptoms of Fragile X. Females with a full mutation will show some symptoms of Fragile X, but will generally not be affected as severely. This gender difference is particularly evident in terms of intellectual impairment, but is less obvious in terms of behaviour and emotional difficulties.

Some individuals have a permutation of the gene, between 55 to 200 repeats, and show few, or no, symptoms of Fragile X.

Other people are carriers of Fragile X, but do not show any symptoms. In these cases, the FMR1 gene is replicated 45 to 55 times. A man who is a carrier will pass the permutation onto all female children. Male children, however, will not be affected. A woman who is a carrier has a 50% chance of passing the permutated gene onto each child, male or female.

Fragile X can be passed down a family line through carriers or permutation for generations before symptoms actually appear in a child.

Common characteristics of Fragile X include

  • long face, large ears and flat feet
  • hyperextensible joints
  • learning disabilities and intellectual impairment
  • decreased attention span
  • hyperactivity
  • anxiety
  • moodiness
  • seizures (25% of people with Fragile X experience seizure activity)
  • behaviours commonly classified as autistic (difficulty with transitions, repetitive movements, sensitivity to overwhelming environmental stimuli, or self-injurious behaviour)

Who is affected?

Fragile X is the most common type of inherited developmental disorder in the world. Males are affected more frequently and typically more severely than females. Recent estimates indicate that for males with the full mutation the incidence rate is 1 in 4,000. For females with the full mutation, the incidence rate is 1 in 8,000.

How is it diagnosed or detected?

A simple genetic test or DNA analysis can determine the presence of the mutated gene responsible for Fragile X. It also provides extremely accurate detection of individuals who are carrying the gene and can be performed before birth. This type of test is sufficient if testing specifically for Fragile X Syndrome. However, in cases where there is no history of Fragile X and the cause of intellectual impairment is unknown, a comprehensive genetic evaluation should be performed.

Due to the fact that Fragile X can vary greatly among individuals in terms of symptoms and severity, to the point of being very subtle in some females, most individuals with Fragile X are not correctly diagnosed.

Additional Resources:

Fragile X Research Foundation of Canada (FXRFC) – www.fragile-x.ca
FXRFC is a national non-profit organization administered by volunteers, most of whom are parents and health professionals. It directly funds promising research aimed at treatment. FXRFC promotes awareness of Fragile X, and publishes a quarterly newsletter and information materials.

National Fragile X Foundation – www.fragilex.org
The National Fragile X Foundation unites the Fragile X community to enrich lives through educational and emotional support, promote public and professional awareness, and advance research toward improved treatments and a cure for Fragile X.

FRAXA Research Foundation, Inc. – www.fraxa.org/
This virtual support and information exchange group is for everyone: parents, siblings, grandparents, other family members, educators, and friends.

Fragile X Syndrome: A Review of Clinical and Molecular Diagnoses –https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0355-y
by Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo and Susanna Espoito
Italian Journal of Pediatrics (2017) 43:39 DOI: 10.1186/s13052-017-0355-y

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

Fetal Alcohol Spectrum Disorder

Fact Sheet

What is Fetal Alcohol Spectrum Disorder?

Fetal Alcohol Spectrum Disorder, or FASD, is an umbrella term used to describe the range of permanent disabilities caused by prenatal exposure to alcohol. Prenatal exposure to alcohol is a leading cause of preventable birth defects. Alcohol can interfere with the growth and development of the fetal body systems, especially the central nervous system (the brain and spinal cord). Although it can vary from mild to severe the effects can include physical, mental, behavioural, and/or learning disabilities with possible lifelong implications. It is one of the top three known causes of developmental delay in children in Canada along with Spina Bifida and Down Syndrome. The greatest risks of FASD are associated with high levels of drinking, including binge drinking, or heavy drinking. Right now, there is no way of knowing how much alcohol is safe to drink during pregnancy. Less is better. None is best. FASD is a life-long condition.

There are four terms commonly used to describe FASD:

Fetal Alcohol Syndrome(FAS): most severe and visibly identifiable form of FASD. FAS is characterized as: growth deficiency; a unique cluster of minor facial abnormalities; severe CNS abnormalities; and prenatal alcohol exposure.

Partial Fetal Alcohol Syndrome (pFAS): a diagnostic classification for patients who present most but not all the growth deficiency and/facial features of FAS; severe SNS abnormalities; and prenatal alcohol exposure.

Alcohol Related Birth Defects(ARBD): patients with ARBD have problems with how some of their organs were formed and function including: heart, kidney, bones, hearing, and vision.

Alcohol-Related Neurodevelopmental Disorder (ARND): patients with ARND have issues with their brain and nervous system formation and functionality. There are no facial abnormalities or growth deficiencies.
Neurobehavioural Disorder associated with Prenatal Alcohol Exposure (ND-PAE): patients with ND-PAE have problems with thinking, behaviour, and life skills. This is due to alcohol exposure during pregnancy.

How is it manifested?

Although there is great variability in the characteristics of children with FASD, three common traits include:

Growth Pattern

  • slowed growth
  • small birth weight and head circumference
  • small in stature

Distinct facial features

  • thin upper lip
  • smooth philtrum (groove between upper lip and nose)
  • small eye openings
  • flat mid-face

Central nervous system deficits

  • learning disabilities
  • developmental delays
  • inappropriate social skills
  • difficulty learning from consequences
  • hyperactivity
  • poor concentration
  • memory problems
  • difficulty following instructions

Children may have problems in all three areas, or just one, depending on how they are affected. Often children will have normal growth and facial features, but display central nervous system deficits.

Who is affected?

The exact number of children born with FASD is unknown. FASD affects approximately 1% of people living in Canada and it is believed to be 5 out of every 100 live births worldwide.

How is it diagnosed or detected?

The criteria for the diagnosis of FASD are based on the presence of the following

  • evidence of excessive maternal drinking during pregnancy
  • characteristic facial dysmorphology (e.g., microcephaly, poorly-developed philtrum, thin upper lip and flattened maxillary area)
  • pre- and/or postnatal growth delays (weight, length and/or height below the 10th percentile
  • central nervous system (CNS) damage (e.g., signs of neurological abnormality, developmental delay, intellectual impairment, or neurobehavioural anomalies).

Additional Resources:

Motherisk: The Hospital For Sick Children – www.motherisk.org
Motherisk is dedicated to providing information and guidance to pregnant or lactating patients and their health care providers regarding the fetal risks associated with alcohol, drug, chemical, infection, disease and radiation exposure(s) during pregnancy.

Breaking the Cycle – www.breakingthecycle.ca
Breaking the Cycle is a unique early identification and prevention program for pregnant and/or parenting women who are using substances, and for their young children. The program was created with a holistic approach in mind, to serve women and children living in high-risk circumstances that, in addition to substance use, include homelessness, violence, poverty, poor health and nutrition, and chaotic and unstable environments.

Public Health Agency of Canada – www.phac-aspc.gc.ca/hp-ps/dca-dea/prog-ini/fasd-etcaf/index-eng.php
The Public Health Agency of Canada offers a variety of resources including an information booklet, national reports, and studies on FASD.
FAS/E Information Service
Toll-free in Canada, 1-800-559-4514
Provides links to support groups, prevention projects, resource centres, and experts on FASD.

Canadian Centre on Substance Abuse (CCSA) – www.ccsa.ca
The CCSA is Canada’s national addictions agency. Its mission is to provide objective, evidence-based information and advice that will help reduce the health, social and economic harm associated with substance abuse and addictions.

Best Start: Ontario’s Maternal, Newborn and Early Child Development Resource Centre – www.beststart.org
Best Start is a provincial resource centre that seeks to enhance the capacity of service providers to implement effective health promotion programs for expectant and new parents (including both mom and dad), newborns and young children.

Centre for Addiction and Mental Health (CAMH) – http://www.camh.ca
CAMH is Canada’s largest mental health and addiction teaching hospitals and one of the world leading research centres in the areas of addiction and mental health. It is a client-centred care program. Its website provides information about FASD as well as available resources for families.

Books and Literature:

Living with FASD: A Guide for Parents
By Sara Graefe

Living with Prenatal Drug Exposure
By Lisa Cowan, Jennifer Lee and Emilie Cameron

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

Failure to Thrive

Fact Sheet

What Is Failure to Thrive?

Although it has been recognized for more than a century, Failure to Thrive Syndrome (FTT) lacks a precise definition. This is partly because it describes a condition rather than a specific disease. Children who fail to thrive do not receive, or are unable to take in, retain, or utilize the calories needed to gain weight and grow as expected.

Most diagnoses of Failure to Thrive Syndrome are made in infants and toddlers in the first few years of life (a crucial period of physical and mental development). After birth, a child’s brain grows as much in the first year as it will grow during the rest of the child’s life.

How is it manifested?

A child who has stopped growing and/or has experienced significant weight loss may be suffering from Failure to Thrive Syndrome. A medical assessment is necessary to determine whether the syndrome is a medical or a non-medical condition.

The following characteristics are often present in failure-to-thrive children.

  • lack of appropriate weight gain
  • irritability
  • easily fatigued
  • excessive sleepiness
  • lack of age-appropriate social response
  • does not make vocal sounds
  • delayed motor development
  • learning and behaviour difficulties later in childhood

Potential Causes

  • not enough food offered
  • child eats too little due to prematurity, developmental delays, or has sensitivity to textures and tastes
  • health problems involving the digestive system, such as gastroesophageal reflux (GER), chronic diarrhea, Cystic Fibrosis, chronic liver disease, and Celiac Disease
  • food intolerance –body is sensitive to certain foods
  • an ongoing illness or disorder
  • infections
  • metabolic disorders

Who is affected?

An accurate number of incidences of Failure to Thrive Syndrome is unknown and often depends on the population. However, approximately 5-10% of low birth weight children and children living in poverty have FTT.

How is it diagnosed or detected?

Due to the fact that children grow and develop at different rates, it is necessary for a paediatrician to keep track of a child’s growth and weight during regular checkups. In making the diagnosis, it is necessary to provide the physician with a detailed history of the child combined with a current physical examination. This includes: diet and feeding behaviours; medical history; past and current medications; social history; and family history. Growth charts for length, weight, and head circumference help in confirming the diagnosis of Failure to Thrive Syndrome..

Additional Resources:

KidsHealth – http://kidshealth.org
About Kids Health – www.aboutkidshealth.ca

Ontario Ministry of Health and Long Term Care – www.health.gov.on.ca

Books and Literature:

Failure to Thrive and Paediatric Undernutrition
By Daniel B. Kessler and Peter Dawson

Failure to Thrive: Recognizing and Resolving Non-Physical Feeding Disorders
By Di Hampton

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

Down Syndrome

Fact Sheet

What is Down Syndrome?

Down Syndrome is a genetic condition resulting from an extra 21st chromosome which often causes delays in physical and intellectual development. It occurs in approximately 1 in every 800 live births. Individuals with Down Syndrome have 47 chromosomes instead of the usual 46.

Three genetic variations can cause Down Syndrome. Approximately 92% of the time, Down Syndrome is caused by the presence of an extra Chromosome 21 in all cells of the individual. In such cases, the extra chromosome originates in the development of either the egg or the sperm. Consequently, when the egg and sperm unite to form the fertilized egg, three, rather than two, Chromosome 21’s are present. As the embryo develops, the extra chromosome is repeated in every cell. This condition, in which three copies of Chromosome 21 are present in all cells of the individual, is called Trisomy 21.

In approximately 2-4% of cases, Down Syndrome is due to Mosaicism. This situation is similar to Trisomy 21 but, in this instance, the extra Chromosome 21 is present in some, but not all, cells of the individual. For example, the fertilized egg may have the right number of chromosomes, but, due to an error in chromosome division early in embryonic development, some cells acquire an extra Chromosome 21. Thus, an individual with Down Syndrome due to Mosaic Trisomy 21 will typically have 46 chromosomes in some cells, but will have 47 chromosomes (including an extra Chromosome 21) in others. In this situation, the range of the physical problems may vary, depending on the proportion of cells that carry the additional Chromosome 21.

The third genetic variation is called Translocation. This refers to the type of Down Syndrome that is caused by rearranged chromosome material. There are three 21 chromosomes, similar to Trisomy 21 but in this case, one of the 21st chromosomes has attached to another chromosome instead of being separate. Only 3-4% of babies born with Down Syndrome will have Translocation.

How is it manifested?

  • muscle hypotonia (low muscle tone)
  • flat facial profile (a somewhat depressed nasal bridge and a small nose)
  • oblique palpebral fissures (an upward slant to the eyes)
  • dysplastic ear (an abnormal shape of the ear)
  • a single deep crease across the center of the palm
  • hyperflexibility (an excessive ability to extend the joints)
  • epicanthal folds (small skin folds on the inner corner of the eyes)
  • excessive space between large and second toe
  • enlargement of tongue in relationship to size of mouth

Who is affected?

It is estimated that 1 in every 800-1,000 children born in Canada are diagnosed with Down Syndrome. It is the most frequently-occurring chromosomal abnormality.

How is it diagnosed or detected?

Down Syndrome is usually identified at birth or shortly thereafter. Initially, the diagnosis is based on physical characteristics that are commonly seen in babies with Down Syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number, and shape. Chromosomes may be studied by examining blood or tissue cells.

There are also two types of prenatal tests used to detect Down Syndrome in a fetus: screening and diagnostic tests. The screening test estimates the risk that a fetus has Down Syndrome while a diagnostic test determines whether or not the fetus has a condition with an accuracy of 99%. However, diagnostic tests are more invasive since it is tested in utero. Contact your health care provider for more information.

Additional Resources:

Down Syndrome Association of Toronto – www.dsat.ca
Down Syndrome Association of Toronto is a non-profit organization providing support and information to parents of children with Down Syndrome, students and teachers.

Canadian Down Syndrome Society (CDSS) – www.cdss.ca
The CDSS is a resource linking parents and professionals through advocacy, education and providing information.

National Down Syndrome Congress – www.ndsccenter.org
It is the purpose of the National Down Syndrome Congress to create a national climate in which all people will recognize and embrace the value and dignity of people with Down Syndrome

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, to special needs of all kinds. It also has a selection of resources for caregivers, counselors, therapists, educators, and clinicians.

Babies With Down Syndrome. A New Parents’ Guide
by Karen Stray-Gunderson Edited by Susan Skallerup

Classroom Language Skills in Children with Down Syndrome
By Libby Kumin

Discovery: Pathways to Better Speech for Children with Down Syndrome (DVD)
by Libby Kumin, Dr. Sally Shott, Professor Sue Buckley, and Dr. Seigfried Puschel

Down Syndrome: the First 18 Months (DVD)
By Will Schermerhorn

The Down Syndrome Nutrition Handbook: A Guide to Promoting Healthy Lifestyles
By Joan E. Guthrie Medlen

The Down’s Syndrome Handbook: A Practical Guide for Parents and Carers, Revised Edition
By Richard Newton

Early Communication Skills for Children with Down Syndrome: A Guide for Parents and Professionals
By Libby Kumin

Early Education for Children with Down Syndrome (Time to Begin)
By Valentine Dmitriev

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

Developmental Delay

Fact Sheet

What is a Developmental Delay?

Children identified as “developmentally delayed” tend to develop at a slower rate than typical children at the same age level. This may be evident in a single area of development, or in multiple areas. Developmental Delay is a non-categorical label often used by educators and health practitioners who are reluctant to identify preschoolers with a categorical label. Even with typical development, there are age ranges for developmental milestones.

How is it manifested?

Common reasons why a child might be developmentally delayed are

  • premature birth
  • hospitalization immediately or soon after birth
  • insufficient brain cell development
  • damage to brain cells before or during birth (e.g., Cerebral Palsy)

It is not uncommon for a developmental delay to co-exist with another disorder, such as

  • behavioural and emotional disorders – inherent or related to physical, sexual or emotional abuse early in life
  • sensory impairments – vision or hearing problems
  • medical/health conditions – allergies or asthma
  • genetic disorders (e.g., Down Syndrome)
  • Attention Deficit Disorder (ADD)

Who is affected?

Developmental Delay is the most common type of disability among preschool children. It is more common in males than in females. As children move into the school system, many are diagnosed with a more specific disability.

How is it diagnosed or detected?

For typically developing children, a paediatrician should screen for delays in their development during regular examinations. This may consist of simple questions about what a child is able to do, or may include a formal screening test.

Common characteristics, which may be apparent in a child with a developmental delay, include

  • difficulty with change or transition periods
  • difficulty remaining on-task and with task-completion
  • difficulty understanding concepts that are abstract, as opposed to concrete
  • delays in expressive and/or receptive language development
  • problems organizing and/or remembering information
  • difficulty during unstructured activities

Additional Resources:

FAMILY ALLIANCE ONTARIO – www.family-alliance.com
Family Alliance Ontario is an alliance of citizens that offers knowledge, tools and networking opportunities to individuals with disabilities and their families. Their goal is to assist these individuals to realize a vision that includes having valued relationships, choice and control in their lives, and inclusion through meaningful contribution and participation in their communities.

ABILITY ONLINE – http://abilityonline.org/
Ability Online is an extraordinary and absolutely free Internet community. Young people with disabilities and illnesses connect with all kinds of possibilities that address their needs as curious, growing citizens of the planet. They meet and chat with other people like them in a virtual world that transcends boundaries and barriers. They make friends, get tips from mentors, and freely participate in an atmosphere of collaboration, companionship and support.

Community Living Toronto – www.cltoronto.ca
For over 50 years Community Living Toronto has been a source of support for thousands of individuals searching for accessible and meaningful ways to live a more normal life in the community. Community living spans a lifetime and Community Living Toronto strives to support people with intellectual disabilities at different stages of their lives. Community Living Toronto believes that everyone should be a part of the community, no matter how unique or special their needs.

Community Living Ontario (CLO) – www.communitylivingontario.ca
The OACL supports local associations throughout Ontario by linking the associations and their members with resources and information, and by offering training and consultation in the areas of family support, education, employment, human rights, community participation, advocacy and self-planning. This site provides access to information regarding OACL’s initiatives on behalf of people with developmental disabilities, member agencies and related links. OACL is a member of the Canadian Association for Community Living, an active participant in the international movement in support of people with intellectual disabilities.

SURREY PLACE CENTRE – www.surreyplace.on.ca
Surrey Place Centre is a leading community-based organization in Toronto providing complex diagnostics, counseling, service coordination, behavioural therapy and educational programs to people living with a developmental disability and their families.

PERSONS WITH DISABILITIES ONLINE – http://www.pwd-online.gc.ca/
Uses information technology to provide integrated access to information, programs and services for persons with disabilities, their families, their caregivers, service providers and all Canadians.

Guide to Government of Canada Services for People with Disabilities Services for People With Disabilities Guide
c/o Canada Enquiry Centre
Ottawa, Ontario K1A 0J9 CANADA
Phone: 1-800-622-6232

This guide about Government of Canada services and programs for people with disabilities provides information on everything from employment, accessibility and education, to health, income support and tax benefits. A section tells you how to contact your provincial or territorial government to find out about its programs and services for people with disabilities.

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

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