Fragile X syndrome (FXS), or Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. It accounts for about one-half of cases of X-linked intellectual disability and is the most common cause of mental impairment after trisomy 21. Physical features include a long, narrow face with a prominent jaw and forehead, hyperflexible fingers, and large ears. After puberty, enlarged testicles may be present in males.This comprehensive review for healthcare professionals delves into the critical aspects of Fragile X syndrome (FXS), offering insights into its clinical presentation, diagnosis, and management. FXS, a leading cause of intellectual disability and autism spectrum disorder, often goes undiagnosed due to its diverse phenotypes and clinical overlap with other syndromes. The course emphasizes the importance of considering FXS in the differential diagnosis of intellectual disabilities and developmental impairments. Furthermore, it underscores the value of early diagnosis and intervention in enhancing patient outcomes and quality of life. The interprofessional healthcare team’s role in managing patients with FXS is also highlighted, emphasizing a collaborative approach to improve patient care.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/21954
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: IPCE Credits: 1.0 hours
AMA PRA Category 1 Credit™️: 1.0 hours
Nursing: 1.0 hours
Pharmacy: 1.0 hours
Social Work: 1.0 hours - MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
ABPATH - 1.0 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABA - 1.0 Point; Credit Type(s): Lifelong Learning (ABA)
ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, Developmental-Behavioral Pediatrics, General Pediatrics, General Surgery, Internal Medicine, Molecular Genetic Pathology, Neurodevelopmental Disabilities, Neuropathology (incl. Neuromuscular), Pediatric Anesthesia, Pediatric Neurology