Emanuel Syndrome Development
This page will help you learn more about Emanuel Syndrome Development and how it may differ between individuals.
- Growth and Development
- Developmental Issues
- Physical Development
- Puberty
- Intellectual Development
- Developmental Products
Growth and Development of Individuals with Emanuel Syndrome
Children with Emanuel Syndrome will have issues with growth and development. In this section, we will talk about their physical and cognitive development, as well as look at how they develop from birth to adulthood.
Just remember that what you read doesn’t tell the whole picture of who your child will be. Things may sound scary or difficult when you read that your child will experience delays, but remember that these things will be only a part of who your child is.
Perinatal
For mothers carrying children with Emanuel Syndrome, the frequency of pregnancy complications is low, as is prematurity. The most commonly seen complication, occurring in 24% of cases is intrauterine growth retardation and birth weights are typically low (Carter, et. al., 2009).
Developmental issues
Every child with Emanuel Syndrome will have global developmental delays. Some parents have asked us what causes our children to have developmental and speech delays. This is due to the extra genes our children carry. It affects the normal development of the brain, and this affects every area of development. The first area of developmental delay that parents typically notice is in the area of gross motor skills – the process of learning to sit, stand and walk independently.
If my child does not have a lot of medical issues, does that mean he will do better developmentally?
This question has been asked by more than one parent. Medical issues do not predict how well your child will develop. Some children have very serious, life-threatening medical issues but they sometimes do better cognitively than others who have had relatively few medical problems. This is not something we are able to predict.
Behaviour
Behaviour problems are not common in our children. Only a small percentage have been reported to have anxiety issues, episodes of agitation or self-harm/self-injurious behaviour – some of the children have required medication to treat these issues. Self-stimulating behaviors, stimming, is also known to be exhibited by some children.
Hyperactivity, or performing stereotypical movements, and hand flapping are also behaviors known to be exhibited in some children.
If you are concerned about behavioural issues, you can talk to your doctor about a referral to a behavioural therapist.
References
Carter, M. T., Barrowman, N. J., St Pierre, S. A., Emanuel, B. S., & Boycott, K. M. (2010). Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. American Journal of Medical Genetics. Part A, 152A(1), 212–214. https://doi.org/10.1002/ajmg.a.33166
Physical Development
Children with Emanuel Syndrome will generally experience differences in how they grow and develop. Many of our children do not typically reach physical developmental milestones such as sitting, standing or walking, at the same rate as compared to children who do not have Emanuel Syndrome.
At age 27, Maia is not much heavier than our German Shepherd – who is about 70 lbs. She is more the size of an eight-year-old girl with tiny feet. Even with AFOs, her shoes are a child’s size 1.
The majority of our children do not reach a normal adult height and weight. Many are on the lowest end of the spectrum for both height and weight typical for their age. Some of the children may have small, underdeveloped feet and hands. Many of our children at some point have been given the label “failure to thrive”.
Past medical reports on Emanuel syndrome have suggested that bone growth in our children is delayed.
In Carter et al., (2009), 50% of the individuals reported were below the 3rd centile for weight, and 73% of individuals reported their height as below the 3rd centile. Having growth below the 3rd centile is also noted in several other reports.
Fine motor and self-help skills are also significantly delayed in the majority of our children. Most children require help with dressing and feeding, beyond the age when they are infants. About 40% of children at a developmentally appropriate age were able to use a spoon or fork appropriately. About 20% of our children with Emanuel Syndrome are fully or partially toilet trained. Some of our children are toilet regulated – which means they are taken to the bathroom at regular intervals.
Will my child learn to walk?
The majority of children with ES do learn to walk, but the age at which they achieve this may be delayed. Most of our children are able to learn to walk with assistance (using a walker), or independently. Of those who use walkers, they are usually around age 5. There have been some children who did learn to walk independently even earlier than this. (Carter et. al., 2009).
“Evyn loves trying to keep up with her sister. Here is a video of them walking together.” _
For some of the children who do not learn to walk, or who are able to walk with support but still have limited mobility, you will likely at some point require a wheelchair, or specialized stroller. This doesn’t mean your child has to use it exclusively – but for longer trips, it can be helpful so he doesn’t tire out, or fall and injure himself. The idea is to maximize your child’s experiences, not to admit defeat!
“What should you expect? They will tell us, as time goes by. Each of them has their own potential and no doctor or no other professional like an Occupational Therapist or Physiotherapist is to tell you your child will never do this or that. This gets you down to hear there are so many things they will not do, and they are so smart, always surprising with a new milestone. Our son was not going to live….but he is 9 now. He was not going to walk….but he learned to walk on his own, at 6 or 7 and he does it very well. He was never going to tell when he wanted to go to the bathroom… but he has learned his own way to tell us and is learning to be regulated very well. He was never going to do many things and you should see the many things he is able to do … he has a preference lately for making big, big messes!”
Home Modifications
It is hard to look into the future, but there may be a time when you need to make home modifications, such as adding a wheelchair ramp if your child does not learn to walk well, or making a larger bathroom to accommodate a bathtub lift. You may need to modify a vehicle to accommodate a wheelchair or special seating arrangement. These are concerns we will mention briefly, only for the purpose of financial planning. Some of the parents wished they had thought about those things sooner and thought it was worth mentioning, so families would be able to plan better when moving homes, or to save money for equipment that might not be covered. Financial options may include: state medical waivers fundraising, or grants.
When and if you need this, your child’s therapist will be able to point you in the right direction.
“I love it when my child learns a new skill. Her milestones take much longer to achieve but I believe your hard work does pay off. Make sure your therapist believes in your child and continues to work with them. If you don’t feel your child is getting the very best care, don’t feel bad about being their advocate.”
Puberty
In the majority of girls with Emanuel Syndrome, menstruation does occur. This has happened anywhere from age 9 to 18, with the majority of girls starting between ages 11-13. There have been two reports of girls who reached adulthood and did not have any menstruation (Carter et al., 2009).
“Every milestone is HUGE because your child has worked harder to get there than typical children do. Feel free to celebrate in a big way. My husband and I cried when our daughter pulled herself across the floor for the first time at around the age of 4.”
Keep in mind that development in individuals with Emanuel Syndrome will differ even though they have the same diagnosis. While there are some children who do not develop independent mobility, there are some children with Emanuel Syndrome who are walking independently even in early childhood. And while most of our children are small, there are some who reach an average adult size when fully grown. There is variability among all of our children with Emanuel Syndrome.
Intellectual Development
Most people with Emanuel Syndrome have intellectual disabilities that are considered in the severe to profound range. People experiencing this level of intellectual disability require daily supervision and support, relying on others for most basic needs such as feeding, toileting and mobility. They may understand speech but have limited ability to communicate with words. They will not be able to live independently as adults.
This is very hard to hear as a parent, but there are so many things you can do to help your child develop to the best of their abilities. Visit our Care and Treatment pages to learn more. And, our group members will be with you every step of the way.
Speech
The majority of children with Emanuel syndrome do not develop the ability to communicate with speech. However, there are a few children and adults in our group who have developed speech – or expressive language, and some can use simple words or phrases and a few can speak in sentences. While most of our children may not develop speech, their ability to understand language – or their receptive language – is much better.
It will be important for parents to explore other options for their children to be able to express themselves, maximizing all opportunities for learning and teaching alternative ways to communicate.
Your child’s speech and language therapist will help you decide on the best ways to help your child communicate.
Find more info under Care and Treatment – Speech Therapy
As parents creating this website, we know how you are feeling if you are reading this information for the first time. We know how hard this is to read. Be assured that you will be celebrating so many successes with your child and be amazed by them. We are all going to be cheering along with you!
References:
Clinical Characteristics of Intellectual Disabilities
Severe / Profound General Learning Disability National Council for Special Education
Developmental Products
For any child, especially those with developmental disabilities, choosing toys, products and devices that stimulate cognitive development is important. While your child’s therapists and teachers can guide you in this area, we wanted to share some of our favourite websites.
Don’t forget – books are great too!
Canada and US:
UK:
TFH also has a UK website https://specialneedstoys.com/uk/ and some other countries too.
https://www.fledglings.org.uk/ supplies a range of clothing and equipment.
https://seenin.co.uk/ also supplies equipment and clothing
Poland:
Australia:
https://www.starfishstore.com.au/
Sometimes our children may benefit from adaptive clothing and shoes. Here are a few helpful sites:
Shoes, clothing, bibs:
UK- https://www.marksandspencer.com/l/kids/easy-dressing – Marks and Spencer have a range of adaptive clothing that are available in the UK and you can look and see whats available in your part of the world here https://www.marksandspencer.com/c/help/international
Shoes
Clothing
Tubesies – bodysuits for tube-fed infants https://tubesies.com
Cat & Jack and other adaptive clothing sold through Target
https://www.target.com/c/kids-adaptive-clothing/-/N-1laue
Bibs
GTube pads and belts
Equipment
Firefly by Leckey makes equipment, mostly targeted to the early years and, although not cheap is within the realm of possibility for families unlike some things, international delivery available https://www.fireflyfriends.com/
Have a favourite store in your part of the world? Ask us to add it here.