Angelman Syndrome: A Rare Neurodevelopmental Condition

Overview

Angelman syndrome (AS) is a rare genetic condition that primarily affects the nervous system. It is caused by a change in a gene called UBE3A. AS is characterized by developmental delays, intellectual disabilities, speech impairments, and a specific facial appearance.

Symptoms

Symptoms of AS vary depending on the individual, but some common features include:

• Small head
• Specific facial features, such as a broad forehead, widely spaced eyes, and a thin upper lip
• Developmental delays
• Intellectual disabilities
• Speech impairments
• Seizures
• Sleep problems
• Hyperactivity and attention problems

Causes and Inheritance

AS is caused by a change (mutation) in the UBE3A gene. In most cases, the mutation occurs on the copy of the gene inherited from the mother. In rarer cases, the mutation may occur on the copy of the gene inherited from the father, or it may be a new mutation that occurs spontaneously.

AS is usually inherited in an autosomal dominant manner, which means that an individual only needs to inherit one copy of the mutated gene from a parent to be affected. However, in some cases, AS can be inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis and Treatment

AS is diagnosed based on a combination of symptoms, medical history, and genetic testing. There is no cure for AS, but treatment can help to improve symptoms and quality of life. Treatment may include:

• Early intervention services, such as speech therapy, physical therapy, and occupational therapy
• Medications to control seizures and other symptoms
• Special education and support services
• Assistive technology

With early diagnosis and intervention, individuals with AS can lead fulfilling and productive lives. They may need lifelong support, but they can participate in school, work, and community activities.