Angelman syndrome is a rare neurodevelopmental disorder with no known specific racial or ethnic predisposition globally. It affects individuals across all populations without a higher prevalence in any particular racial group.
While Angelman syndrome is observed universally, the demographic characteristics of participants in specific studies or clinical cohorts can vary. For instance, a review of patient socio-demographic characteristics in a conceptual model of Angelman syndrome indicated that individuals identified as Caucasian represented the majority of the study participants. The breakdown of race/ethnicity within that specific patient group was as follows:
| Patient Group | Race/Ethnicity | Number of Individuals | Percentage |
|---|---|---|---|
| Children (n=11) | Caucasian | 9 | 81.8% |
| Asian | 1 | 9.1% | |
| Adults (n=12) | Caucasian | 11 | 91.7% |
Understanding Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.
- Prevalence: It is estimated to occur in approximately 1 in 12,000 to 1 in 20,000 live births.
- Cause: The syndrome is typically caused by a loss of function of the UBE3A gene, located on chromosome 15. This loss of function can result from various genetic mechanisms, including deletions, mutations, or other chromosomal abnormalities.
- Characteristics: Individuals with Angelman syndrome often exhibit a distinct set of characteristics, which can include:
- Severe developmental delay
- Intellectual disability
- Severe speech impairment (often minimal or absent expressive language)
- Movement or balance disorder (ataxia)
- A unique behavioral phenotype characterized by a happy, excitable demeanor, frequent laughter, and a fascination with water.
- Other common features may include microcephaly (small head size), seizures, and sleep disturbances.
- Diagnosis: Diagnosis is primarily based on recognizing the unique clinical features and confirmed through genetic testing that identifies the underlying UBE3A gene defect.
