Neurodevelopmental and Behavioral Pediatrics

Angelman Syndrome - General Overview

Description

Angelman Syndrome (DS) is genetic condition that causes developmental delay and neurological problems. Causes 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 childer are carry other diagnoses. The Angelman Syndreome 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 resoning 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., gesture

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. 

Common health problems include:

  • Seizures
  • Eye & 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 & happiness
  • Repetitive & stereotypic behavior such as hand flapping
  • Sleep problems

Connect with Golisano Children's Hospital

Golisano Children's Hospital Development

Contact Us

Golisano Children’s Hospital
Box 671
601 Elmwood Avenue
Rochester, NY 14642

Phone: (585) 275-2986
Fax: (585) 275-3366

Directions to the Kirch Clinical Offices

Survey - Connecting Online with Families