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Updated: Aug 5, 2025
11:05
Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
Published on: October 20, 2023
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[Angelman syndrome in adulthood].
M Lorenzo-Ruiz1, S Novo-Ponte1, G Iglesias-Escalera1
1Hospital Universitario Puerta de Hierro Majdahonda, Madrid, España.
Revista De Neurologia
|March 28, 2023
Summary
This study describes adults with Angelman syndrome (AS), highlighting their ongoing medical needs and social support requirements. Findings emphasize the need for better care transitions and continued research into adult AS.
Area of Science:
- Neurology
- Genetics
- Developmental Pediatrics
Context:
- Angelman syndrome (AS) is primarily studied in childhood, with limited data on adult manifestations.
- Adult AS requires specialized medical and social support, necessitating improved care transitions from pediatric to adult services.
Purpose:
- To describe the demographic, medical, and social characteristics of adults with Angelman syndrome.
- To identify the specific needs and support systems required for adults with AS.
- To inform better care strategies and facilitate transitions for adult AS patients.
Summary:
- Thirty genetically confirmed adult Angelman syndrome patients (median age 22.7 years) were analyzed.
- Epilepsy was common (73%), with other comorbidities including psychiatric symptoms, scoliosis, and overweight.
- Adults required significant support, including hospital admissions (40%), institutionalization (5), and non-medical therapies (24).
Impact:
- Provides the first Spanish review of a broad spectrum of adult AS conditions.
- Highlights the need for continued research into the natural history of Angelman syndrome beyond childhood.
- Informs the development of tailored care plans and support services for adults with Angelman syndrome.
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