Angelman Syndrome Related NDBP Services, URMC Collaborations, and Resources Description Angelman syndrome is a genetic condition that causes developmental delay, neurological problems, and problems with the way the body and brain develop. Diagnosis A blood test can detect 80 - 85% of children with Angelman syndrome by looking at the functioning of the UBE3A gene. Children who do not test positive on genetic testing can be diagnosed by an experienced clinician who evaluates for the symptoms of Angelman syndrome. Many children are carry other diagnoses. The Angelman Syndrome Foundation has a Public Service Announcement about accurate diagnosis. How Many People Have Angelman Syndrome? Angelman syndrome occurs in about 1 in every 15,000 babies born. Associated Developmental and Learning Issues Learning Most children with Angelman syndrome have severe intellectual disability. Most children have strengths in nonverbal reasoning and social interactions. Communication Difficulties Children with Angelman syndrome usually have better comprehension of speech than expressive speech. Most children develop several words, but may communicate better through sign or assistive devices. Mobility Children with Angelman syndrome learn motor skills like sitting, crawling, and walking later than other children. Most children do learn how to walk, but may need assistance or have a less coordinated gait than other children. Social Skills Many children with Angelman syndrome learn to play and interact with other children more slowly than other children. Many are social children, however, who are interested in interacting with others. Adaptive Skills Most children with Angelman syndrome self-care skills slowly and require assistance from others. Associated Medical Conditions Many children with Angelman syndrome have other health complications. It is important that these are recognized and treated. A child with Angelman syndrome who is physically healthy is more likely to do well in school and in other treatments. This contributes to more independence, better daily functioning, and better quality of life. Seizures Eye and vision problems Sleep apnea Low muscle tone (hypotonia) Feeding problems and slow growth in infancy Problems walking Heat sensitivity Sleep problems - abnormal sleep cycles, less need for sleep Repetitive behaviors Overweight Scoliosis Constipation Small head Despite many chronic health problems, Life expectancy for people with Angelman syndrome has increased dramatically in recent decades from 25 in 1983, to 60 today. Angelman syndrome itself does not get worse over time. However, how it affects a person may be different at different points in the person’s life. Associated Behavioral Conditions Hyperactivity Laughter and happiness Repetitive and stereotypic behavior such as hand flapping Sleep problems Related NDBP Services Behavior Interventions for Families Program - Teaches families ways to prevent bad behavior and increase positive behaviors, and teaches children the skills needed to behave in a desirable way. Community Consultation Program - Provides technical assistance, training, and continuing education to schools, community and state agencies that provide services to children with learning and behavioral challenges. Crisis Intervention Program - Provides services to individuals with a developmental or intellectual disability living in Monroe County with significant behavioral difficulties. Pediatric Feeding Disorders Program - Provides assessment and treatment for children who have difficulty eating related to food selectivity, food refusal, and disruptive mealtime behavior. URMC Collaborations Child Neurology - Assures children have the evaluation and treatment they need for seizures or other neurologic issues. Dental Department - Helps children maintain good oral health. Pediatric Gastroenterology - Evaluates and offers suggestions for treatment for problems with slow bowel motility, constipation, or gastroesophageal reflux (GER). Pediatric Orthopaedics - Monitors and treats bone and muscle issues. Pediatric Sleep Medicine Service - Evaluates and treats sleep problems. Physical Medicine and Rehabilitation - Provides outpatient evaluation and intense and targeted therapy programs for children and teens. Speech Pathology Department - Meets the needs of children who have difficulties with speech, communication, oral-motor control, and feeding/swallowing. Resources You can find resources for Angelman syndrome in our Resource Directory!