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Related Experiment Videos

Angelman syndrome in adulthood

L A Laan1, A T den Boer, R C Hennekam

  • 1Departmentn of Neurology, Leiden University Hospital, The Netherlands.

American Journal of Medical Genetics
|December 18, 1996
PubMed
Summary

Adults with Angelman syndrome (AS) often develop physical changes like scoliosis and require assistance with daily activities. Many experience seizures and characteristic EEG abnormalities, persisting from childhood.

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Angelman syndrome (AS) is a rare genetic disorder affecting development.
  • Characterized by severe developmental delay, intellectual disability, and motor deficits.

Purpose of the Study:

  • To investigate the clinical and electroencephalogram (EEG) findings in adult patients with Angelman syndrome.
  • To describe the progression of AS manifestations from childhood to adulthood.

Main Methods:

  • Study included 28 adult patients (aged 20-53 years) with Angelman syndrome.
  • Genetic analysis confirmed maternal 15q11-13 deletion in 23 patients; 5 diagnosed clinically.
  • Clinical and EEG data were collected and analyzed.

Main Results:

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  • Increased prevalence of "coarsening" of facial traits (100%), thoracic scoliosis (71%), and wheelchair dependence (39%) in adulthood.
  • Paroxysms of laughter persisted in 79% of adults, though less frequent than in childhood.
  • Epileptic seizures occurred in 82% of patients; characteristic EEG triphasic waves were present in 67%.

Conclusions:

  • Angelman syndrome presents distinct clinical and EEG characteristics in adulthood.
  • Adult AS patients often require ongoing support for daily activities and management of seizures.
  • The study highlights the long-term clinical course and neurological features of Angelman syndrome.