Cockayne Syndrome

Overview

4.6 out of 5 (8 Reviews)

Credits

1.00

Post Assessment Questions

5

Start Date

1 Jan 2021

Last Review Date

11 Jan 2024

Expiration Date

31 Dec 2023

Estimated Time To Finish

60 Minutes


 
Need Help?  If you have a system or content concerns, please contact support@statpearls.com

Activity Description

Cockayne syndrome is a rare autosomal recessive genetic disorder resulting from a DNA repair defect, leading to heightened sensitivity of cells in affected individuals to the lethal effects of UV light. Individuals with this disorder display unique facial characteristics, including sunken eyes, a beaked nose, and prominent ears, and also experience progressive dementia. In addition to these characteristics, individuals with Cockayne syndrome frequently exhibit cachectic dwarfism, intellectual disabilities, skin and hair thinning, failure to thrive, short stature with a stooped standing posture, microcephaly, progressive neurological dysfunction resulting from demyelination, retinal degeneration accompanied by pigmented retinopathy and optic atrophy, kyphoscoliosis, gait defects, neuromotor abnormalities, compromised vision and hearing, and sun sensitivity.

Cockayne syndrome manifests as a spectrum that can be divided into 3 types—I, II, and III. The condition is specifically associated with 2 defective genes—the ERCC8 (Cockayne syndrome A or CSA) gene for Cockayne syndrome type I and the ERCC6 (Cockayne syndrome B or CSB) gene for Cockayne syndrome type II. An additional variant—the xeroderma pigmentosum–Cockayne syndrome overlap complex—stems from mutations in different ERCC genes such as ERCC2, ERCC3, and XPD. The treatment for CS is mainly supportive and focuses on managing and preventing the associated complications. This activity reviews the etiology, pathophysiology, diagnosis, and management of Cockayne syndrome types 1 and 2 while emphasizing the importance of the early involvement of a multidisciplinary healthcare team to improve patient care for this complex and rare condition.


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:

  • Identify key clinical features and facial characteristics of Cockayne syndrome for early and accurate diagnosis.

  • Implement evidence-based interventions and supportive measures tailored to the specific needs of individuals with Cockayne syndrome.

  • Apply a multidisciplinary approach, coordinating psychomotor rehabilitation and physiotherapy for optimal patient outcomes.

  •  

    Collaborate with interprofessional healthcare providers to provide comprehensive and coordinated care for individuals with Cockayne syndrome.

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

Dr.Mallikarjun K. on 12/30/2021

Dr.Mallikarjun K. on 3/26/2022

Dr.Ayodhyaprasad S. on 6/5/2022

Prabhat K. on 7/2/2022

SYED M. on 12/5/2022

Adithya nikhileshwar B. on 8/1/2023

Akshaya K. on 11/5/2023

Nivetha V. on 11/18/2023

Unlimited Physician CME

Stay up to date on the latest medical knowledge with 6673 CME activities. In these online self-assessment activities, read our reference articles and test your knowledge with more than 7923.5 hours of CME.

Learn About Lifetime CME

Single Activity

Take this single activity

$39 1 activity

6 Month Unlimited Physician CME

Access to all the Unlimited Physician CME activities in all specialties.

$399 per half year per user

1 Year Unlimited Physician CME

Access to all the Unlimited Physician CME activities in all specialties.

$599 per 1 year per user