Fragile X Syndrome


4.4 out of 5 (22 Reviews)



Post Assessment Questions


Start Date

1 Sep 2023

Last Review Date

28 Oct 2023

Expiration Date

31 Aug 2026

Estimated Time To Finish

60 Minutes

Need Help?  If you have a system or content concerns, please contact

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, physician associates, nurses, pharmacists, nurse practitioners, and social workers.

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.


StatPearls, LLC requires everyone who influences the content of an educational activity to disclose relevant financial relationships with ineligible companies that have occurred within the past 24 months. Ineligible companies are organizations whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients. All relevant conflict(s) of interest have been mitigated. Hover over contributor names for financial disclosures. Others involved in planning this educational activity have no relevant financial relationships to disclose.

Commercial Support: This activity has received NO commercial support.

Continuing Education Accreditation Information

In support of improving patient care, StatPearls, LLC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.

As a Jointly Accredited Organization, StatPearls, LLC is approved to offer social work continuing education by the Association of Social Work Boards (ASWB) Approved Continuing Education (ACE) program. Organizations, not individual courses, are approved under this program. State and provincial regulatory boards have the final authority to determine whether an individual course may be accepted for continuing education credit. StatPearls, LLC maintains responsibility for this course. Social workers completing this course receive 1.00 continuing education credits.

Social Workers: StatPearls, LLC designates this continuing education activity for 1.00 ASWB ACE credit(s) for social workers. Social Workers should only claim credit commensurate with the extent of their participation in the activity.

Please consult your professional licensing board for information on the applicability and acceptance of continuing education credit for this activity.

Method of Participation and Credit

  1. Register for the activity.    
  2. Review the target audience, learning objectives, and disclosure information.
  3. Study the educational content of the enduring material.
  4. Choose the best answer to each activity test question. To receive credit and a certificate, you must pass the test questions with a minimum score of 100%.
  5. Complete the post-activity assessment survey.

If you have concerns regarding the CE/CME system, please contact


This educational activity was planned and produced in accordance with the ACCME Standards for Integrity and Independence in Accredited Continuing Education. Faculty may discuss investigational products or off-label uses of products regulated by the FDA. Readers should verify all information before employing any therapies described in this educational activity.

The information provided for this 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. The information presented does not necessarily reflect the views of StatPearls or any commercial supporters of educational activities on StatPearls expressly disclaims responsibility for any adverse consequences resulting directly or indirectly from information in the course, for undetected error, or through a participant's misunderstanding of the content.

Unapproved Uses of Drugs/Devices: In accordance with FDA requirements, the audience is advised that information presented in this continuing education activity may contain references to unlabeled or unapproved uses of drugs or devices. Please refer to the FDA-approved package insert for each drug/device for full prescribing/utilization information.

Cancellation Policy: Please see the cancellation policy. StatPearls, LLC reserves the right to cancel any course due to unforeseen circumstances.




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

Kaashif A. on 4/29/2024

Malani K. on 5/9/2024

Likta N. on 5/18/2024

Inderpreet K. on 6/24/2024

PRANEET R. on 7/11/2024

Unlimited Social Worker CE

Stay up to date on the latest medical knowledge with 221 CE activities. In these online self-assessment activities, read our reference articles and test your knowledge with more than 313 hours of CE.

1 Year Unlimited Social Worker CE

Access to all the Unlimited Social Worker CE activities.

$49 per 1 year per user