A Comprehensive Overview

Angelman Syndrome: Unlocking the Mystery of a Neurodevelopmental Disorder

A Comprehensive Overview

Angelman syndrome (AS) is a complex neurodevelopmental disorder that affects individuals worldwide. Characterized by a distinctive set of symptoms, including severe developmental delays, speech impairments, and ataxia, AS presents a unique challenge to families and healthcare professionals alike.

Unraveling the Genetic Roots

Research has revealed that AS is caused by a lack of expression of the UBE3A gene on the maternal chromosome. This gene plays a crucial role in the proper functioning of neurons, and its absence leads to the hallmark symptoms of the disorder. In most cases, AS is caused by a deletion on the maternal copy of chromosome 15, leading to a loss of the UBE3A gene.

Navigating the Clinical Landscape

Individuals with AS typically experience a range of clinical features, including: * Severe developmental delays that can affect cognition, motor skills, and communication * Limited or absent speech * Ataxia, which affects coordination and balance * Seizures, which can range from mild to severe * Characteristic facial features, such as a broad smile and wide-spaced eyes

Evolving Treatment Strategies

While there is currently no cure for AS, a variety of therapies can help manage the symptoms and improve the quality of life for affected individuals. These include: * Early intervention services to promote developmental progress * Physical and occupational therapy to enhance motor skills * Speech therapy to assist with communication * Medications to control seizures and hyperactivity