By Mike Hajmasy, CAMH Public Affairs
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, frequent seizures, movement disorder, limited or absent speech and an excitable and apparently happy demeanor. The symptoms are challenging, and with limited resources dedicated to Angelman syndrome, families of children with AS are left with many questions and unmet support needs.
Thankfully, things are looking up.
Dr. Jane Summers, Psychologist, Interim Discipline Lead for Psychology and Director of Interprofessional Practice for the Child, Youth and Emerging Adult Program (CYEAP) at the Centre for Addiction and Mental Health (CAMH) in Toronto and Dr. Erick Sell, Neurologist at Ottawa’s Children’s Hospital of Eastern Ontario (CHEO) have partnered up to start the first-ever Canadian Angelman Syndrome Clinic dedicated to helping families manage this very rare genetic disorder and its symptoms.
“I first met a child with Angelman syndrome in 1992 while working in the Department of Behavioral Psychology at the Kennedy Krieger Institute in Baltimore,” Dr. Summers explains. “I was very interested in learning more about the syndrome, and with very few people working in this area specifically, I was driven to help in any way I could.”
Since coming to CAMH in 2014, Dr. Summers says her work with the Adult Neurodevelopmental Service at CAMH has given her a “greater appreciation for how mental health concerns such as anxiety and depression may present in individuals with intellectual and developmental disabilities; people who are often unable to communicate verbally.”
She says it’s also reminded her of the importance of team work and the need to form partnerships among clinicians, researchers and families/caregivers.
What is Angelman syndrome?
Angelman syndrome is the result of a disruption in the maternal copy of the UBE3A gene on chromosome 15. This gene is imprinted in neurons throughout the brain and is involved in different aspects of brain development and function. “Researchers and geneticists are trying to develop therapies to treat the underlying molecular cause of the syndrome, but this is a complicated undertaking” Dr. Summers explains. “Children with Angelman syndrome may not walk or are unsteady on their feet, don’t communicate verbally, may not sleep for more than a few hours at night and often do not have any concept of danger. It’s very challenging for parents, especially when their children are young.”
At present, it’s about managing the day-to-day lives of the approximately 1 in 16,000 people born with Angelman syndrome. “This means ensuring appropriate treatment of their seizures; dealing with their gastrointestinal and sleep problems; and improving their communication, self-help, play and motor skills. And a lot of coaching and support for families. With my background providing behavioural services for children and adults with intellectual disabilities, I can provide advice and recommendations to families on how to manage their children’s challenging behavioural symptoms.”
That’s where the clinic comes in.
The Canadian Angelman Syndrome Clinic
Since 1992, Dr. Summers has worked as part of many clinical programs for people with intellectual disabilities and written research papers on Angelman syndrome specifically. She presents at conferences hosted by the Canadian Angelman Syndrome Society and the Angelman Syndrome Foundation, and to this day, Dr. Summers sits on the Scientific Advisory Committee of the Angelman Syndrome Foundation in the United States. But never before has there been a Canadian clinic dedicated to Angelman syndrome, despite several specialized clinics operating in the U.S.
That all changed in April 2016 when Dr. Summers partnered up with Dr. Erick Sell from CHEO, a colleague she met at a conference in Chicago just months prior, to launch the Canadian Angelman Syndrome Clinic. “We just got talking and had a common interest in helping these children and families,” she says.
“The clinic is in its early days, but we’re off to a great start. I travel to Ottawa a few times a year, helping co-host full-day clinics with Dr. Sell, where we see six or seven families per day.”
On those days, Drs. Summers and Sell use their unique areas of expertise to provide guidance to families in any way they can. “Children with Angelman syndrome are easily excitable and tend not to sleep through the night, so one thing I can do is guide parents on how to design a routine for the evening that prepares their child for bed as well as how to respond if their child gets out of bed during the night.”
Dr. Sell has invited CHEO’s Dr. Melissa Carter from Clinical Genetics and medical residents to join the clinics, as well. “The idea here is that the more people we can expose to Angelman syndrome the better. We’re introducing the doctors and clinicians of the future to a neurodevelopmental disorder that needs more attention.”
One of the biggest benefits of this clinic is that families can have access to several specialists at once. Rather than attending different appointments on different days, these families can come to the clinic and walk away feeling more informed with a set of recommendations.
“The feedback we’ve received so far has been overwhelmingly positive. The families really appreciate the efficiency of what we’re doing as well as our specialized focus.”
The road ahead
Less than a year after launching, the Canadian Angelman Syndrome Clinic has a wait list. The demand is there, but ultimately resources keep the clinic’s reach confined to Ottawa for the time being.
Moving forward, Dr. Summers says the clinic will develop its own research program in the hopes of gathering more concrete data on the needs of the families and children she and her colleagues see.
“I’m grateful to the Canadian Angelman Syndrome Society for supporting me to travel to Ottawa and also to CAMH for this donation in kind of my time,” says Dr. Summers. “The families that we meet are so appreciative for what we can provide them and it’s incredibly rewarding to help them navigate this challenging neurodevelopmental disorder.”