What is Down syndrome?
What will Down syndrome do to my child?
So what does Down syndrome look like?
Will my child have predictable health problems?
What is Celiac disease?
How do I keep track of all the medical information?
Anything in particular I should watch for?
What is Audiology?
What are Community Education Services?
What is ‘Clinic?’
What is Physio/Occupational Therapy?
What about Speech Therapy?
Why would I need a psychologist?
What is respite care?
Wow. That’s a lot of information. Anything else?
What is Down syndrome?
Down syndrome is one of the most common genetic conditions associated with mild to severe developmental disability. It is caused by the presence of an extra copy of the 21st chromosome.
Typically, every cell in the body contains 23 pairs of chromosomes, one set of 23 from each parent. Sometimes, however, and the cause is unknown, at conception, an extra copy of one of these chromosomes is present and copies itself into every cell in the body. This third copy can occur with any of the 23 pairs, but in most cases, , the ‘trisomy’, or third chromosome will not result in a live birth. Other trisomies can lead to other ‘syndromes’ and their associated conditions. Trisomy 21, a third copy of the 21st chromosome, more commonly known as Down syndrome, named after Dr. Robert Down, who first identified it, is the most common and kindest of the trisomies. The incidence of Down syndrome is about one in every 700 live births.
Back to top.
What will Down syndrome do to my child?
All children with Down syndrome will have some degree of developmental delay, such as slowness in learning to talk or walk. Like all children, the abilities of children with Down syndrome vary. As each chromosome contains 500-1000 genes, the blueprints our bodies use to grow and develop, having an extra 500-1000 genes in the 21st chromosome will cause some unique characteristics, both positive and challenging. How much these extra genes interact and/or interfere with the typically expected compliment will determine the severity of the developmental delay experienced by the child with Down syndrome.
Back to top.
So what does Down syndrome look like?
Not all children with Down syndrome look the same. They are as unique as everybody else, yet bear expected likenesses to their parents and siblings. There are, however, some physical characteristics that are more common among children born with Down syndrome.
- smaller head,
- small folds at the inner corners of their eyes (epcanthic folds),
- flattened bridge of the nose,
- smaller mouth and ears,
- smaller, more stout hands,
- single transverse crease across the palms,
- wider space between the first and second toes,
- low muscle tone.
Not all children with Down syndrome will exhibit all of these characteristics, and it is impossible to make a diagnosis based solely on the above list. Only a blood test which determines the presence of the Trisomy 21 is conclusive.
Back to top.
Will my child have predictable health problems?
Some children with Down syndrome will experience some of the following health problems to varying degrees. Again, while none of these conditions, alone or in combination means that a child has Down syndrome, it has been found that as a group, children with Down syndrome present with these diagnoses more often that children who do not have Down syndrome.
- heart defects (about 50%),
- gastrointestinal blockages (12%)
- hearing loss (75%)
- eye problems (60%)
- thyroid problems (15%)
- Celiac disease (5%)
Heart defects and gastrointestinal blockages are usually notices at birth or shortly thereafter.
It should also be noted that advances in treating the medical problems experienced by children with Down syndrome have been, and continue to be made at encouraging rates. The prognosis for most children with Down syndrome is improving constantly due to the decreasing negative effects of these health problems on their development.
Back to top.
What is Celiac disease?
Approximately 5% of people with Down Syndrome test positive for Celiac (pronounced See-lee-ak) disease. This is almost 6 times the rate in the general population. Basically, the inability of the body to process wheat products, some symptoms are anemia, chronic diarrhea, weight loss, cramping and bloating, and irritability. A simple blood screen can determine the condition, which, while it currently has no cure, can be controlled through a gluten-free diet.
For more information, visit the Canadian Celiac Association web site by clicking here.
For DSAH member recommended tips, recipes, and suppliers, click here.
Back to top.
How do I keep track of all the medical information?
Our best advice, based on eons of collective personal experience, is to start as soon as possible, a zipped binder that will contain all pertinent information about your child for the rest of his or her life. Write down everything that has happened so far, from pregnancy details, to birth history, and all medical and developmental information since. While this could be a daunting task, chip away at it until it’s up to date. You will need it. As will your child as an adult.
You’ll be amazed at how many details you’ll forget over time. And they may become important. You’ll need doctors’ names, dates, medications, doses, procedures, tests, etc. The list can seem endless.
Take the binder to every appointment your child attends. Write down questions for the doctor. Open the binder and ask your questions – get the doctor to repeat what you don’t understand, writer down his or her answers, double check spelling, be clear on next steps and follow up.
If possible, take someone with you to your appointments. You will find that having an extra pair of ears and a calm supporter will help immeasurably with deciphering the overwhelming amount of information you can be faced with, and, more importantly, to help you through what can be a very emotional experience.
This is your new normal. You will become quite skilled at it. Whether you think so or not, whether you want to or not. Because your child needs you to do this.
Please feel free to contact the DSAH if you are feeling at all overwhelmed. We are a large group of experienced parents who have all had to weather those initial lessons. We can help.
Back to top.
Anything in particular I should watch for?
Here in Hamilton, we are very fortunate to have a great many medical and developmental resource for our children. And with the conversion of McMaster University Medical Centre to the new children’s hospital, that care is expected to improve even further. Thank you to McMaster Children’s Hospital for providing much of the following information.
That said, there are still milestones and events that you will need to watch a little more closely than with your other children, and seek help as soon as possible.
Birth to 2 years:
Adjusting to a child with special needs is not easy. The Infant-Parent Program at Chedoke Child and Family Centre can help you with this adjustment. This program can provide you with support around child development and parenting.
During your child’s first 2 years they will check for any physical and health problems and connect you to services within the Child and Family Centre and the community.
Your professional care team will be glad to discuss any concerns that you may have. Other services to address motor and communication needs are available. Please ask your Infant-Parent therapist or your attending physician.
2 to 5 years:
It is recommended that your child become involved in a preschool program. This will provide your child with the chance to play and learn with with other children.
Your development team will continue to provide you with support around any motor and communication needs. There is help for behaviour problems if needed.
They will also help with your child’s transition from preschool to school.
5 to 12 years:
It is important to review your child’s progress in school and at home. If needed, your Clinic team can provide information to help with the development of self-help skills, adaptive skills, and social skills. There is help for behaviour problems if needed.
The goal is to help your child integrate into preschool, school, and the community.
12 to 18 years:
At these ages, there may be motor, communication, and behaviour concerns. You may also have questions about pubescent development. And be particularly aware of your child’s moods and behaviour. Teens with Down syndrome are especially prone to Depression, Anxiety, and mood disorders. Please let your Clinic team know about your concerns so that they can support and help you.
As a parent of an adolescent with Down syndrome, they will provide you with information about sexuality and vocational training, as well as assistance to help your child become more independent.
Back to top.
What is Audiology?
Your child hearing will be checked on a regular basis by and audiologist. The audiologist is a trained specialist in testing children’s hearing. If your child has a hearing problem, the audiologist will make suggestions as to possible courses of action. A follow-up visit or a referral to other specialists may be needed.
Back to top.
What are Community Education Services?
There are many workshops and groups offered to help you learn about parenting concerns and family issues. These workshops are offered though Community Edcation Services. A course schedule is available for fall, winter spring, and summer. Contact the Chedoke Family Resource Centre for further information.
Back to top.
What is ‘Clinic?’
Your Infant-Parent team will arrange for an annual visit to the Chedoke Child and Family Centre for an extensive ‘check-up.’
During this visit, you will first see the audiologist. You will then see the developmental pediatrician, a doctor sho specializes in children with developmental problems. He or she will review your child’s growth and development using the Down Syndrome Care Path.
Most of our parents have found ‘Clinic’ to be the most emotionally stressful experience of all of the child’s medical care. It is an extensive examination of your child’s progress and, while immensely valuable to your child’s well being, it seldom leaves parents with any positive hope for their child’s future. For this reason, we strongly recommend taking someone with you. Avoid Grandparents and other people who may be as emotionally affected as you. You will need someone who can remain objective and open-minded to support you.
The Down Syndrome Association of Hamilton can always have a parent volunteer available to attend any appointments with you should you feel you need that support. Just give us a call a couple weeks in advance so we can arrange that for you.
Back to top.
What is Physio/Occupational Therapy?
You may need information and support around your child’s motor development.
A physiotherapist provides families with assistance around gross motor development such as walking and possible equipment needs. An occupational therapist provides families with assistance regarding fine motor development, such as feeding, hand coordination, toileting, and other self-help skills.
Back to top.
What about Speech Therapy?
Your child will see a speech/language pathologist. He or she will provide you with guidance and support to improve your child’s communication skills. Specific ways to improve these skill may be suggested.
The speech/language pathologist may also suggest other communication services or groups such as:
- Hanen Early Language Program
- Augmentative Communcation Support Services
- Technology Access Clinic
- Sign Language lessons.
Why would I need a psychologist?
Your child may see a psychologist or psychometrist who can assess your child’s ability to learn new information. Your child’s behaviours can also be assessed at this time. Recommendations to help your child integrate and participate in school and community are made during these visits.
Back to top.
What is respite care?
Caring for a child with special needs can be stressful. You may request in-home support to provide you with parental relief from the Special Services at Home Program. A special needs worker may come to your home and provide support to your child while you attend to other things at home or in the community. Funding for this support comes from the Ministry of Community and Social Services on an annual basis.
Even if you don’t feel that you need this support now, you would be wise to apply for this funding as it can take a great deal of time to arrange. Once approved, you will need to reapply on an annual basis, but existing applications are given priority, and you will avoid an exhaustive waiting list when you finally feel that the service is needed.
Back to top.
Wow. That’s a lot of information. Anything else?
Absolutely. The best for last.
The DSAH is fortunate to include Judy Colantino among our membership. Judy has an extensive, personal knowledge of life with Down syndrome. She regularly presents some of the most informative, interesting, and enlightening workshops for both of our Boards of Education – teachers, educational assistants, and decision makers, as well as our hospitals – doctors, therapists, and administrators. The information she holds is not likely to be found in any book. Her little-known facts about children with Down syndrome are must-have information for every person who partakes in their care.
We are excited to be able to present some of her wisdom here for you.
Click on the article category “Judy’s Corner” to the right, and settle in for a good read.
Back to top.
