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Neuropsychiatric Symptoms in Rare Diseases: Are We Missing Patients?

  • Authors: William Evans, MSc, MBChB, MRCGP; Mark A. Walterfang, PhD, MBBS, FRANZCP
  • CME / ABIM MOC Released: 2/25/2022
  • Valid for credit through: 2/25/2023, 11:59 PM EST
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Target Audience and Goal Statement

This activity is intended for psychiatrists, primary care physicians, and neurologists.

The goal of this activity is to shorten the rare disease diagnostic odyssey by increasing familiarity with clinical clues that point to a possibility for a rare disease in patients presenting with neuropsychiatric symptoms.

Upon completion of this activity, participants will:

  • Have increased knowledge regarding the
    • Burden of an undiagnosed rare disease for patients and caregivers
  • Have greater competence related to
    • Recognizing patterns of symptoms in psychiatry practice suggestive of a possible rare disease diagnosis


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All relevant financial relationships for anyone with the ability to control the content of this educational activity are listed below and have been mitigated according to Medscape policies. Others involved in the planning of this activity have no relevant financial relationships.

Disclosures for additional planners can be found here.


  • William Evans, MSc, MBChB, MRCGP

    General Practitioner, Leeds
    Assistant Professor
    University of Nottingham
    Chairman, Niemann-Pick UK
    United Kingdom


    Consultant or advisor for: Intrabio; Orphazyme
    Speaker or member of speakers bureau for: Takeda

  • Mark A. Walterfang, PhD, MBBS, FRANZCP

    Royal Melbourne Hospital
    Professor of Neuropsychiatry
    University of Melbourne
    Melbourne, Australia


    Independent contractor for: Biomarin; Cyclo Therapeutics; Mallinkrodt Intrabio
    Consultant or advisor for: Biomarin
    Speaker or member of speakers bureau for: Biomarin


  • Frances McFarland, PhD, MA

    Associate Medical Education Director, Medscape, LLC


    Disclosure: Frances McFarland, PhD, MA, has no relevant financial relationships.

Compliance Reviewer

  • Amanda Jett, PharmD, BCACP

    Associate Director, Accreditation and Compliance, Medscape, LLC


    Disclosure: Amanda Jett, PharmD, BCACP, has no relevant financial relationships.

Peer Reviewer

This activity has been peer reviewed and the reviewer has no relevant financial relationships.

Accreditation Statements


Interprofessional Continuing Education

In support of improving patient care, Medscape, 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.

    For Physicians

  • Medscape, LLC designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™ . Physicians should claim only the credit commensurate with the extent of their participation in the activity.

    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 0.25 MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program. Participants will earn MOC points equivalent to the amount of CME credits claimed for the activity. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit. Aggregate participant data will be shared with commercial supporters of this activity.

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For questions regarding the content of this activity, contact the accredited provider for this CME/CE activity noted above. For technical assistance, contact [email protected]

Instructions for Participation and Credit

There are no fees for participating in or receiving credit for this online educational activity. For information on applicability and acceptance of continuing education credit for this activity, please consult your professional licensing board.

This activity is designed to be completed within the time designated on the title page; physicians should claim only those credits that reflect the time actually spent in the activity. To successfully earn credit, participants must complete the activity online during the valid credit period that is noted on the title page. To receive AMA PRA Category 1 Credit™, you must receive a minimum score of 75% on the post-test.

Follow these steps to earn CME/CE credit*:

  1. Read the target audience, learning objectives, and author disclosures.
  2. Study the educational content online or printed out.
  3. Online, choose the best answer to each test question. To receive a certificate, you must receive a passing score as designated at the top of the test. We encourage you to complete the Activity Evaluation to provide feedback for future programming.

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Neuropsychiatric Symptoms in Rare Diseases: Are We Missing Patients?

Authors: William Evans, MSc, MBChB, MRCGP; Mark A. Walterfang, PhD, MBBS, FRANZCPFaculty and Disclosures

CME / ABIM MOC Released: 2/25/2022

Valid for credit through: 2/25/2023, 11:59 PM EST


Assessment Survey

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