Fragile X syndrome: an update and review for the primary pediatrician
Jeannie Visootsak1, Stephen T Warren, Aimee Anido
1Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Insights
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, requires timely diagnosis for early intervention. This review covers recent advances in FXS recognition, diagnosis, and management for primary care physicians.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- Fragile X syndrome (FXS) is a leading inherited cause of intellectual disability.
- Advances in understanding the genetic basis and clinical features of FXS have been significant.
- Familiarity with these advances is crucial for primary care physicians.
Purpose of the Study:
- To review the current knowledge of Fragile X syndrome.
- To provide a framework for early recognition and diagnosis.
- To outline counseling and treatment implications for affected children and families.
Main Methods:
- Literature review of recent advances in Fragile X syndrome.
- Synthesis of clinical and mechanistic findings.
- Development of a framework for diagnosis and management.
Main Results:
- Substantial progress has been made in understanding FXS.
- Early diagnosis facilitates access to intervention services.
- Genetic counseling is vital for affected families.
Conclusions:
- Primary care physicians need updated knowledge on FXS.
- A systematic approach aids in early recognition and diagnosis.
- Comprehensive management includes genetic counseling and treatment planning.
Abstract:
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important for primary care physicians to be familiar with these advances when providing anticipatory guidance. Timely diagnosis allows children to receive early intervention services and families to receive genetic counseling. Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members.
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