Cockayne Syndrome

Overview

4.6 out of 5 (8 Reviews)

Credits

1.00

Post Assessment Questions

5

Start Date

1 Sep 2023

Last Review Date

11 Jan 2024

Expiration Date

31 Aug 2026

Estimated Time To Finish

60 Minutes


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

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

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.

 

Physicians and Physician Associates: StatPearls, LLC designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit(s)TM. Physicians and PAs should only claim credit commensurate with the extent of their participation in the activity.

American Board of Internal Medicine: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

American Board of Otolaryngology–Head and Neck Surgery: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn their required annual part II self-assessment credit in the American Board of Otolaryngology–Head and Neck Surgery’s Continuing Certification program (formerly known as MOC). It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of recognizing participation.

American Board of Pathology: Successful completion of this Continuing Certification activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 Lifelong Learning (CME) credits in the American Board of Pathology’s Continuing Certification Program.

American Board of Pediatrics: Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to earn up to 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit learner completion information to ACCME for the purpose of granting ABP MOC credit.

Royal College of Physicians and Surgeons of Canada: Through an agreement between the Accreditation Council for Continuing Medical Education and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in Support of MOC” program in Section 3 of the Royal College’s MOC Program.

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 support@statpearls.com.

Disclaimer

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.com. 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.

 

 
 

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

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