Angelman Syndrome

Angelman Syndrome is a rare neurological disorder that affects 1 in 15,000 live births. http://www.angelman.org/stay-informed/ It is characterized by mental retardation or severe developmental delay, tremulousness of the limbs, severe speech impediment, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. http://www.geneclinics.org/profiles/angelman/details.html

Symptoms can be recognized as early as six months of age; however, clinical features do not present themselves until after the first year of age. The correct diagnosis can sometimes take years. http://www.geneclinics.org/profiles/angelman/details.html Angelman Syndrome shares some characteristics with autism: hand-flapping, deficits in expressive language, among others. It is not considered to be a spectral disorder as is autism or Asperger's Syndrome. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/behavioral-and-developmental-issues/autism-and-related-traits/

Most diagnoses are made between two and five years of age. At this time, behaviors and features are typically more evident. Many children with Angelman Syndrome will have a prominent chin and a wider mouth. This disparity may be highlighted by similar familial facial traits. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/consensus-criteria-for-diagnosis-of-as/

Consistent (100%)

• Developmental delay, functionally severe
• Movement or balance disorder
• Speech impairment - none or minimal use of words
• Behavioral uniqueness - any combination of frequent laughter/smiling, easily excitable personality, waving movements

Frequent (80%)

• Seizures
• Delayed, disproportionate head growth
• Abnormal EEG (test that measures the electrical activity in the brain)

• Associated (20-80%)
• Protruding tongue
• Frequent drooling
• Excessive chewing/mouth behaviors
• Scoliosis
• Obesity
• Abnormal sleep cycles and diminished need for sleep http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/consensus-criteria-for-diagnosis-of-as/ http://www.webmd.com/epilepsy/electroencephalogram-eeg-21508

Research on Angelman Syndrome has increased over the past few years. As of late 2008, there were over a thousand articles on PubMed: a prominent database for scientific studies. It is known that Angelman Syndrome is caused by a deficiency of UBE3A protein in neurons. In many childhood developmental disorders the underlying cause is unknown. Scientists have been able to successfully treat mice with Angelman Syndrome. One concern is that treatment on humans during early stages may irreversibly damage the brain. Additional experiments are being conducted to safely find a cure for this disorder. http://www.cureangelman.org/what-facts.html

• Genetica Lens: Genetic Counseling For Angelman Syndrome

The content in this page is not a substitute for professional medical advice. Please contact a doctor before using the information presented here.