Symptoms of Angelman Syndrome – Angelman Syndrome News (2024)

Overview

Angelman syndrome develops in infants right after conception due to the malfunction or absence of the UBE3A gene that is inherited from the child’s mother. Affected children can show symptoms of Angelman syndrome from as young as 6 to 12 months, but most patients are diagnosed between 18 months and 6 years old. Symptoms can be confused with autism or cerebral palsy, which are more prevalent than Angelman syndrome.

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Anxiety

Anxiety, where a person feels tense, restless, and apprehensive, is commonly observed in individuals with Angelman syndrome. In Angelman patients, anxiety is exhibited by clinginess, inability to relax, nervousness, irritability, restlessness, and crying.

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Communication Difficulties

Severe impairments in speech and difficulties with verbal communication are common in people with Angelman syndrome. Some patients may not be able to speak at all, and others — even as adults — may be able to voice only a few words. Nonverbal skills may improve in some patients as they get older.

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Eye Issues

In some cases, Angelman syndrome can also affect the eye muscles and impede the nerve impulses from the brain to the eyes, causing vision problems. Researchers suggest that eye symptoms may be used in the diagnosis of Angelman syndrome when they occur with other characteristic symptoms.

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Seizures

About 90% of Angelman syndrome patients experience seizures. They usually appear between the ages of 18 months and 2 years old and may be triggered by high temperatures or fever. There are different types of seizures patients may experience.

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Scoliosis

Scoliosis, or the abnormal sideways curvature of the spine, frequently occurs in Angelman patients. The condition is reported in about 20% of children and 50% of adults with the disease. Scoliosis cases should be closely monitored in Angelman patients because they may quickly progress, especially in early childhood and during adolescence.

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