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[Rett Syndrome: an updated view]
Trinidad Arancibia1, Rosa Pardo2, Paulo Barrientos3
1Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Andes Pediatrica : Revista Chilena De Pediatria
|October 31, 2023
Summary
Rett syndrome (RS) is a rare neurodevelopmental disorder caused by MECP2 gene variants. This review analyzes global medical and social aspects of RS, highlighting Chilean resources for affected families.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Context:
- Rett syndrome (RS) is a rare neurodevelopmental disorder.
- Characterized by developmental arrest, regression, and hand stereotypies.
- Primarily caused by pathogenic variants in the MECP2 gene.
Purpose:
- To review updated global medical and social aspects of Rett syndrome.
- To specifically examine the situation of RS patients and families in Chile.
- To synthesize information on clinical features, genetics, pathophysiology, management, and social impact.
Summary:
- The review synthesizes 68 articles (1995-2022) on medical and social aspects of RS.
- Medical aspects cover clinical features, diagnosis, genetics, pathophysiology, and management.
- Social aspects address family stress and available resources, with a focus on Chile.
Impact:
- Rett syndrome impacts multiple organ systems, requiring multidisciplinary management.
- The disorder has significant psychological and socioeconomic effects on families.
- Chilean legislation and foundations offer support for affected families.
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