Multidisciplinary care for Angelman syndrome: clinical characteristics and parent perspectives from a Canadian specialty clinic

Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with a characteristic phenotype that includes severe intellectual disability, absent or minimal speech, movement disorder and apparently happy demeanor. The Angelman Syndrome Clinic at the Children’s Hospital of Eastern Ontario is the first specialized clinic of its kind in Canada and was established to provide multidisciplinary care to individuals with AS and their families. This study presents data on a cohort of children and adults who were evaluated in the clinic from its inception in 2016 to 2023. Data were collected prospectively using questionnaires and interviews from parents of participants with a molecularly confirmed diagnosis of Angelman syndrome and were analyzed retrospectively. The investigator-developed, structured parent questionnaire was specifically designed to capture a range of medical, developmental and behavioral concerns that are commonly reported in AS in addition to parents’ need for additional information. A separate satisfaction survey was used to evaluate their experiences with the services received and to solicit suggestions for clinic improvement. Seventy-one children and adults (55% male, median age = 5.6 years, range 6 months-47 years, 62% with deletion of 15q11.2-q13) were seen for multidisciplinary evaluation in the AS clinic over the study period. Common medical concerns included seizures (61%), history of reflux symptoms (51%) and constipation (44%). The majority of participants were receiving occupational (72%), and speech/communication (56%) therapy and parents expressed concerns most often about aggressive behavior (61%) and short attention span (58%). Differences in proportions by genotype were found for a history of reflux, walking independently and using words to communicate, all higher in the nondeletion group. Participants in the deletion genotype group received a genetic diagnosis of AS earlier and a greater proportion experienced seizures. Scoliosis and dehydration were more commonly reported in adults with AS. Parents responding to a survey expressed satisfaction with services they received at the CHEO AS Clinic and highlighted some areas for potential improvement. This multidisciplinary clinic cohort highlights the complex medical, developmental, and behavioral issues affecting individuals with Angelman syndrome across the lifespan. Parents’ need for practical and proactive approaches to dealing with behavioral challenges identifies an opportunity to provide family-centred supports within specialty care models.