Home Latest news Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry

by informer
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The Angelman Syndrome Registry (Research in Angelman Syndrome in Italy) aimed to assess the clinical history of individuals with Angelman Syndrome in Italy, compare it with existing literature, and explore the link between symptoms and genotypes. Established in 2018, the study enrolled 82 participants, with 62 providing complete data. It collected demographic, clinical, and genetic information using electronic forms, analyzing the data with descriptive statistics and examining genotype-clinical characteristic associations.

Key findings include:

  • Median participant age: 8 years
  • Males: 48.8%
  • Most common genotype: Deletion (58.1%)
  • High prevalence of epilepsy (82.2%), with seizures often beginning before age 3
  • Majority needed multiple anti-epileptic drugs, with generalized tonic-clonic seizures and atypical absence seizures most common
  • Deletion genotype associated with more severe developmental delays and higher seizure severity
  • Sleep problems affected 69.4%, mainly involving sleep onset and maintenance difficulties

The study confirms that the clinical history and genetic characteristics of Angelman Syndrome in Italy align with existing research. It also demonstrated that patient registries are effective in collecting comprehensive data on rare diseases, which can enhance research and patient care.Read the full article here.

 

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