Fragile X Syndrome

Overview

4.4 out of 5 (17 Reviews)

Credits

1.00

Post Assessment Questions

9

Start Date

16 Nov 2022

Last Review Date

28 Oct 2023

Expiration Date

31 Dec 2023

Estimated Time To Finish

60 Minutes


 
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Activity Description

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.


Target Audience

This activity has been designed to meet the educational needs of physicians.

Learning Objectives

At the conclusion of this activity, the learner will be better able to:

  • Screen individuals for fragile X syndrome, especially those with intellectual disabilities, autism of unknown etiology, or ataxia and tremors in individuals older than 50 years.

  • Differentiate fragile X syndrome from other intellectual and developmental disorders by recognizing specific physical features and considering fragile X syndrome as a potential diagnosis.

  • Implement molecular genetic testing for FXS, utilizing polymerase chain reaction for CGG repeat measurement and Southern blot analysis for methylation status.

  • Coordinate the various interprofessional team members and explain how their roles contribute to advancing the evaluation and treatment of fragile X syndrome and improving outcomes.

Disclosures

The Campbell University Jerry M. Wallace School of Osteopathic Medicine (CUSOM) requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest they or their immediate family may have as related to the content of this activity. All identified conflicts of interest are thoroughly vetted by CUSOM for resolution, to ensure fair balance, scientific objectivity of studies mentioned in the materials or used as the basis for content, and appropriateness of patient care recommendations.

CUSOM will identify, review, and resolve all conflicts of interest that faculty, authors, activity directors, planners, managers, peer reviewers, or relevant staff disclose prior to an educational activity being delivered to learners. Disclosure of a relationship is not intended to suggest or condone bias in any presentation but is made to provide participants with information that might be of potential importance to their evaluation of a presentation. Disclosure information for authors, editors, planners, peer reviewers, and/or relevant staff is provided with this activity.

Continuing Education Accreditation Information

 

 

The Campbell University Jerry M. Wallace School of Osteopathic Medicine (CUSOM) is accredited by the American Osteopathic Association to provide osteopathic continuing medical education for physicians. CUSOM designates this enduring material for a maximum of 1.00 AOA Category 1 B Credits and will report CME credits commensurate with the extent of the physician's participation in the activity.

Cancellation Policy: Cancellations must be received in writing and a money back guarantee is provided if not completely satisfied.

  • StatPearls and CUSOM reserve the right to cancel any course due to unforeseen circumstances. StatPearls and CUSOM will not be responsible for other expenses incurred by the participant in the unlikely event that the program is canceled.

Equal Opportunity

  • StatPearls and CUSOM are Equal Opportunity / Affirmative Action / Equal Access Institutions. 

Medium or Media Used:

  • Computer Requirements:  Internet Access
  • E-mail Address

Instructions for Credit

  1. Register for the activity and create a StatPearls login.     
  2. Review the required accreditation information:  Target audience, learning objectives and disclosure information.
  3. Complete the entire self-study activity.
  4. Complete the post-test assessments.
  5. Successfully pass the post-test with a minimum score of 100%.
  6. Complete the evaluation form.
  7. Obtain a certificate.

StatPearls and CUSOM adheres to AOA Standards regarding commercial support of continuing medical education. It is the policy of StatPearls and Campbell that the faculty and planning committee disclose real or apparent conflicts of interest relating to the topics of this educational activity, that relevant conflict(s) of interest are resolved and also that authors and editors will disclose any unlabeled/unapproved use of drug(s) or device(s) during their presentation. Detailed disclosure will be made prior to starting the activity.

The information provided at this CME/CE activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

This course is intended for osteopathic physicians who wish to earn AOA CME credit. Take this version of the course to ensure you receive appropriate credit.

 

 
 

Reviews

MIA G. on 2/10/2022

Murchana K. on 9/22/2022

MARINA K. on 11/18/2022

SYED M. on 12/7/2022

this was a very good presentation

Leilani G. on 1/31/2023

Christine U. on 2/12/2023

Adithya nikhileshwar B. on 5/12/2023

Parash Pratim B. on 8/22/2023

MARINA K. on 9/18/2023

Nivetha V. on 10/28/2023

Nida A. on 11/1/2023

Akshaya K. on 11/8/2023

Beji J. on 12/12/2023

Sushma B. on 12/14/2023

sivaraman p. on 1/28/2024

Tarun S. on 3/18/2024

Dr. Neha K. on 3/26/2024

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