My Child Has Been Diagnosed With Angelman Syndrome, Now What?

My Child Has Been Diagnosed With Angelman Syndrome, Now What?
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Angelman syndrome shares many characteristics with more common disorders, such as autism and cerebral palsy. For this reason, it can take a few years for your child to be correctly diagnosed. In fact, about half of all Angelman patients are initially misdiagnosed.

Once you know the cause of your child’s difficulties, you may feel overwhelmed and not know what to expect.

Above all, remember that your child is an individual with a unique appearance, personality, and set of abilities. Like any child, yours will have distinct challenges and weaknesses, strengths and talents.

What is Angelman syndrome?

Angelman syndrome is a complex neurological genetic disorder that affects the nervous system, and causes physical and intellectual disabilities. Found in about 1 in every 15,000 people, the disease results from the loss of function of a gene called UBE3A.

What are the symptoms?

You likely will notice problems with your child’s development between the ages of 6 months and 1 year.

Infants may have feeding problems, which can be attributed to suckling issues and tongue thrusting and protrusion.

Common signs and symptoms that appear in childhood include walking and balance disorders, seizures, and gastrointestinal problems. Speech is limited, and learning disabilities are evident.

Because of mobility issues, obesity and scoliosis can develop in adolescence.

Some symptoms of Angelman syndrome such as sleep problems, hyperactivity, and seizures tend to become less frequent or severe as the child grows.

What about demeanor?

Despite this disease’s frequently severe symptoms, your child will probably have a happy and excitable demeanor overall, and be prone to smiles and laughter without any apparent trigger. He or she is also likely to gesture with animated hand flapping, and may be unusually fascinated by water.

Are there behavioral issues?

Children with Angelman syndrome often experience anxiety, which can lead to aggression or self-injury. They also tend to be hyperactive and have short attention spans.

How does this syndrome affect communication?

Issues with communication will begin to manifest when your baby is about 6 months old. Your child will likely continue to have limited or no verbal speech throughout life.

However, your child may be able to benefit from learning sign language or by using an augmentative and alternative communication system.

How will my child physically appear?

One of the physical indicators of Angelman syndrome is a smaller than normal head circumference, a condition known as microcephaly. Patients may have a wide smile with gaps between their teeth, coarse facial features, and a pale complexion with light-colored hair.

A less common symptom is crossed eyes or involuntary eye movements.

What can help with mobility?

Your child can live a long and fulfilled life, but will require lifelong care. A physiotherapist can help tailor exercises to ease mobility issues caused by walking and balance difficulties, and delayed motor skills. Exercise may also improve posture, balance, and core strength.

Physiotherapists may prescribe orthotic braces, which can help stabilize children while walking. There may be times when surgery is necessary to correct scoliosis, a sideways curvature of the spine.

What about education?

Your child can participate in mainstream education, but will require an individualized education plan (IEP). An IEP contains curriculum modifications and special accommodations to meet your child’s educational needs. Specific teaching techniques, such as the ABA chaining technique, have been shown to be effective for children with Angelman syndrome.

Things to consider about diet and nutrition

Older children and adults with Angelman syndrome tend to be overweight due to multiple factors such as genetic predisposition, an impaired sense of satiety, and mobility problems. Your child should start with a healthy lifestyle early to control excessive weight gain.

About you

Know that you’re trying and doing the best you can, and that not everyone in your family is going to deal with every emotional aspect of caregiving the same way. So give yourself a break and take care of yourself.

Support groups

It’s very important to have support available when you need it. Some support organizations include:

 

Last updated: June 15, 2020

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Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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