Angelman syndrome (AS) is a rare neurogenetic condition affecting approximately 1 in every 15,000 live births. It was first documented by Dr. Harry Angelman in 1965, but his research went largely unnoticed until the 1980s. Recent studies are available, and given the efforts of outreach and support programs, most pediatricians and neurologists have at least some knowledge of this disorder.
Symptoms
Common signs and symptoms of Angelman syndrome include:
- Developmental delays, such as lack of crawling or babbling at 6 to 12 months
- Intellectual disability
- Minimal or absent speech
- Inability to walk, move or balance well
- Trembling movement of arms and legs
- Frequent smiling and laughter
- Happy, excitable personality
Other symptoms may include:
- Seizures, usually beginning between 2 and 3 years of age
- Stiff or jerky movements
- Walking with arms held up in the air
- Small head size, including a flatness to the back of the head
- Eye crossing
- Tongue thrusting
- Lighter than normal pigmentation in hair, skin and eyes
Causes
Angelman syndrome is caused by a missing or defective gene, typically affecting chromosome 15. The majority of affected families do not have a history including AS, and researchers are unsure what causes these genetic changes in most cases. If you or your loved one has AS, it is important to know that it is extremely unlikely that you could have done anything to prevent it.
Diagnosis
Early diagnosis can be challenging, and it is rarely identified in infants. One of the earliest detectable signs of Angelman syndrome is difficulty with sucking and swallowing, but feeding problems are not typically severe and can be misattributed to other conditions, like formula intolerance. Usually, the symptoms noticed first are delayed development and the absence of speech. Between the ages of 2 and 5, AS characteristics should become apparent. Misdiagnosis is a common problem for people with AS, as the symptoms and characteristics are similar to more well-known disorders such as autism, cerebral palsy, gelastic epilepsy, and Prader-Willi syndrome. Approximately 50% of individuals with Angelman syndrome are originally misdiagnosed.
Medical Issues
Seizures are common, typically beginning before the age of 3. Since AS also causes jerky and unbalanced movements, seizures might not be noticed immediately. Individuals with AS develop a distinctive gait: wide stance, feet turned outward, arms lifted with elbows flexed. Approximately 10% of AS individuals cannot walk independently. Lifelong help with feeding, toileting, dressing and/or other activities are required for the majority of the AS population.
Laughter and Happiness
Although individuals with AS exhibit a wide range of emotions, happiness is the predominant and most noticeable expression. Laughter is a frequent occurrence, since most reactions to stimuli elicit laughter or laughter-like grimacing. It is unclear why this characteristic is so prevalent among those with AS (called “angels” in some circles).
Treatment
Since Angelman syndrome is a chromosomal defect, there is no cure. However, individuals with AS can benefit from anti-seizure medication as well as physical, behavioral, and communication therapy plans. Therapy plans can frequently help people with AS overcome hyperactivity and a short attention span, helping them achieve developmental milestones. Although the level of developmental progress people with Angelman syndrome can achieve varies widely, many individuals are outgoing and are able to build strong relationships with friends and loved ones.
For more details on Angelman Syndrome, visit the Angelman Syndrome Foundation, Mayo Clinic and WebMD, all of which provided source information for this article. For more caregiver support and resources, visit Shield HealthCare’s online Caregivers Community and GROW with Shield HealthCare.
