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Written by Aashna Gupta | Art by MollyAnn Caulfield

Angelman syndrome is a rare neurogenetic disorder that affects approximately 1 in 15,000 people worldwide. It was first described in 1965 by Dr. Harry Angelman, and the condition is known for its profound effects on neurological development and behavior. Angelman syndrome primarily impairs speech, movement, and cognitive abilities, which often leave affected individuals with lifelong developmental challenges. Despite these difficulties, however, individuals with Angelman syndrome are known for their happy demeanor.

This condition arises due to problems with the UBE3A gene located on chromosome 15. In most cases, Angelman syndrome results from a deletion or mutation of the maternal copy of this gene. Since the paternal copy of UBE3A is typically inactive in key areas of the brain, its dysfunction or absence leads to neurological impairment. This genetic mechanism makes Angelman syndrome unique in that it reflects a complex interaction between epigenetics and inheritance.

Common symptoms of Angelman syndrome include severe speech impairments, motor difficulties such as ataxia (uncoordinated movements), seizures, and sleep disturbances. Affected individuals may exhibit hyperactivity, fascination with water, and distinctive physical features such as a small head size (microcephaly). Symptoms usually become noticeable within the first year of life, though a full diagnosis may take years.

Angelman syndrome is not a degenerative disorder, meaning symptoms do not typically worsen over time. However, the impact on daily functioning is significant. While individuals may learn to walk, talk, or perform daily tasks to some degree, they often require lifelong care and assistance.

As awareness of Angelman syndrome grows, so does the support for research and therapeutic development. Clinical trials exploring gene therapies and antisense oligonucleotides offer new hope. Continued research may someday unlock more targeted treatments, allowing those with Angelman syndrome to lead more independent lives. Raising awareness and understanding of this rare condition is vital to ensuring inclusivity, access to care, and scientific progress.

Works Cited:

• National Institute of Neurological Disorders and Stroke. (2023). Angelman Syndrome Information Page. https://www.ninds.nih.gov/disorders/all-disorders/angelman-syndrome-information-page
• Mayo Clinic. (2023). Angelman Syndrome. https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes
• Angelman Syndrome Foundation. (2024). https://www.angelman.org/