Diagnosis of Angelman Syndrome
Angelman Syndrome can be suspected based on clinical symptoms, but genetic testing is required to confirm the diagnosis. Diagnosis of Angelman syndrome usually occurs between 6 months and 3 years of age, when developmental delays become clear.
Signs That May Prompt Testing:
- No babbling or speech by 12–18 months
- Frequent, unexplained laughter
- Poor balance or walking delays
- Seizures or abnormal movements
- Fascination with water or love of movement
Diagnostic Steps
- Clinical Assessment
- Neurologists or developmental specialists assess symptoms and family history.
- Genetic Testing
- DNA methylation testing detects 80% of cases, including deletions, UPD, and imprinting defects.
- UBE3A gene sequencing identifies point mutations in an additional 10% of cases.
- Karyotyping or chromosomal microarray may be used if broader anomalies are suspected.
- EEG (Electroencephalogram)
- Often shows characteristic brainwave patterns even before seizures start.
Early diagnosis allows families to begin therapies and educational support as soon as possible. It also provides clarity and helps connect with resources, including support groups.
Let’s now look at the various treatment options for managing Angelman Syndrome.
Importance of Diagnosis
Diagnosing Angelman Syndrome is a critical step that allows families and healthcare providers to understand the unique needs of the child and plan appropriate interventions. While clinical signs such as speech delays, balance issues, seizures, and characteristic behaviors may raise early suspicions, genetic testing remains the gold standard for confirmation.
Benefits of Early Diagnosis
Early and accurate diagnosis not only provides clarity but also opens doors to specialized therapies, educational planning, and supportive networks that can significantly improve the quality of life for both the child and their family. With timely intervention, children with Angelman Syndrome can reach their fullest potential and lead enriched, meaningful lives.
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