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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. Others involved in the planning of this activity have no relevant financial relationships.

Disclosures for additional planners can be found here.

Faculty

Constance L. Smith-Hicks, MD, PhD

Associate Professor of Neurology
Johns Hopkins University School of Medicine
Kennedy Krieger Institute
Baltimore, Maryland

Disclosures

Participation by Dr. Constance L. Smith-Hicks does not constitute or imply endorsement by the Johns Hopkins University or the Johns Hopkins Hospital and Health System.

Constance L. Smith-Hicks, MD, PhD, has no relevant financial relationships.

Alan K. Percy, MD

Professor of Pediatrics, Neurology, Neurobiology, Genetics, and Psychology-Emeritus
Sarah Katherine Bateh Endowed Professorship for Rett Syndrome-Emeritus
University of Alabama at Birmingham
Birmingham, Alabama

Disclosures

Alan K. Percy, MD, has the following relevant financial relationships:
Consultant or advisor for: ACADIA Pharmaceuticals Inc.; Neurogene
Contracted researcher for: ACADIA Pharmaceuticals Inc.

Jeffrey Neul, MD, PhD

Professor of Pediatrics
Division of Neurology, Pharmacology, and Special Education
Annette Schaffer Eskind Chair
Director
Vanderbilt Kennedy Center
Vanderbilt University Medical Center
Nashville, Tennessee

Disclosures

Jeffrey Neul, MD, PhD, has no relevant financial relationships.

Editors

Pakinam Aboulsaoud, PharmD

Senior Medical Education Director, Medscape, LLC

Disclosures

Pakinam Aboulsaoud, PharmD, has no relevant financial relationships.

Megan Breuer, PhD

Medical Writer, Medscape, LLC

Disclosures

Megan Breuer, PhD, has the following relevant financial relationships:
Consultant/advisor for: Paratek Pharmaceuticals, Inc. (former)
Owns stock in (publicly traded): Bristol Myers Squibb Company; Johnson and Johnson; Paratek Pharmaceuticals, Inc.; Vertex Pharmaceuticals Incorporated

Compliance Reviewer

Amanda Jett, PharmD, BCACP

Associate Director, Accreditation and Compliance, Medscape, LLC

Disclosures

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.

CME / ABIM MOC

Exploring the Spectrum of Rett Syndrome: Diagnosis, Symptom Burden, and Care

Authors: Constance L. Smith-Hicks, MD, PhD; Alan K. Percy, MD; Jeffrey Neul, MD, PhD
CME / ABIM MOC Released: 3/7/2023
Valid for credit through: 3/7/2024

Start Activity

Credits Available

Physicians - maximum of 1.00 AMA PRA Category 1 Credit(s)™

ABIM Diplomates - maximum of 1.00 ABIM MOC points

You Are Eligible For
- Letter of Completion
- ABIM MOC points

Target Audience and Goal Statement

This activity is intended for neurologists, pediatricians, primary care physicians (PCPs), and other clinicians who treat patients with Rett syndrome.

The goal of this activity is for learners to be better able to assess for and diagnose Rett syndrome and to increase their knowledge of clinical data on therapies being studied for the management of Rett syndrome.

Upon completion of this activity, participants will:

Have increased knowledge regarding the
- Presenting symptoms frequently associated with Rett syndrome
- Diagnostic criteria for Rett syndrome
- Clinical data on emerging treatments for the management of Rett syndrome
- Current approaches to treating specific symptoms of Rett syndrome
Demonstrate greater confidence in their ability to
- Assess and diagnose Rett syndrome

Disclosures

Disclosures for additional planners can be found here.

Faculty

Constance L. Smith-Hicks, MD, PhD

Associate Professor of Neurology
Johns Hopkins University School of Medicine
Kennedy Krieger Institute
Baltimore, Maryland

Disclosures

Participation by Dr. Constance L. Smith-Hicks does not constitute or imply endorsement by the Johns Hopkins University or the Johns Hopkins Hospital and Health System.

Constance L. Smith-Hicks, MD, PhD, has no relevant financial relationships.

Alan K. Percy, MD

Professor of Pediatrics, Neurology, Neurobiology, Genetics, and Psychology-Emeritus
Sarah Katherine Bateh Endowed Professorship for Rett Syndrome-Emeritus
University of Alabama at Birmingham
Birmingham, Alabama

Disclosures

Alan K. Percy, MD, has the following relevant financial relationships:
Consultant or advisor for: ACADIA Pharmaceuticals Inc.; Neurogene
Contracted researcher for: ACADIA Pharmaceuticals Inc.

Jeffrey Neul, MD, PhD

Professor of Pediatrics
Division of Neurology, Pharmacology, and Special Education
Annette Schaffer Eskind Chair
Director
Vanderbilt Kennedy Center
Vanderbilt University Medical Center
Nashville, Tennessee

Disclosures

Jeffrey Neul, MD, PhD, has no relevant financial relationships.

Editors

Pakinam Aboulsaoud, PharmD

Senior Medical Education Director, Medscape, LLC

Disclosures

Pakinam Aboulsaoud, PharmD, has no relevant financial relationships.

Megan Breuer, PhD

Medical Writer, Medscape, LLC

Disclosures

Megan Breuer, PhD, has the following relevant financial relationships:
Consultant/advisor for: Paratek Pharmaceuticals, Inc. (former)
Owns stock in (publicly traded): Bristol Myers Squibb Company; Johnson and Johnson; Paratek Pharmaceuticals, Inc.; Vertex Pharmaceuticals Incorporated

Compliance Reviewer

Amanda Jett, PharmD, BCACP

Associate Director, Accreditation and Compliance, Medscape, LLC

Disclosures

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.

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For Physicians

Medscape, LLC designates this enduring material for a maximum of 1.0 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 1.0 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.

Contact This Provider

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 70% on the post-test.

Follow these steps to earn CME/CE credit*:

Read about the target audience, learning objectives, and author disclosures.
Study the educational content online or print it out.
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.

You may now view or print the certificate from your CME/CE Tracker. You may print the certificate, but you cannot alter it. Credits will be tallied in your CME/CE Tracker and archived for 6 years; at any point within this time period, you can print out the tally as well as the certificates from the CME/CE Tracker.

*The credit that you receive is based on your user profile.

From Medscape Education Neurology & Neurosurgery

CME / ABIM MOC

Exploring the Spectrum of Rett Syndrome: Diagnosis, Symptom Burden, and Care

Authors: Constance L. Smith-Hicks, MD, PhD; Alan K. Percy, MD; Jeffrey Neul, MD, PhDFaculty and Disclosures

CME / ABIM MOC Released: 3/7/2023

Valid for credit through: 3/7/2024

processing....

References

Fu C, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Pediatr Open. 2020;4:e000717.
Inuzuka LM, et al. MECP2-related conditions in males: a systematic literature review and 8 additional cases. Eur J Paediatr Neurol. 2021;34:7-13.
ProteinAtlas.org. The Human Protein Atlas: MECP2. Updated December 7, 2022. Accessed February 7, 2023. https://www.proteinatlas.org/ENSG00000169057-MECP2/single+cell+type
Collins BE, et al. Rett syndrome and MECP2 duplication syndrome: disorders of MeCP2 dosage. Neuropsychiatr Dis Treat. 2022;18:2813-2835.
Banerjee A, et al. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain. 2019;142:239-248.
Ip JPK, et al. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci. 2018;19:368-382.
Neul JL, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944-950.
Kyle SM, et al. Rett syndrome: a neurological disorder with metabolic components. Open Biol. 2018;8:170216.
Nielsen JB, et al. A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. Brain Dev. 2001;23(suppl 1):S230-S232.
Fu C, et al. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Pediatr Open. 2020;4:e000731.
Percy AK. Progress in Rett syndrome: from discovery to clinical trials. Wien Med Wochenschr. 2016;166:325-332.
Fonzo M, et al. Evidence-based physical therapy for individuals with Rett syndrome: a systematic review. Brain Sci. 2020;10:410.
Killian JT, et al. Caretaker quality of life in Rett syndrome: disorder features and psychological predictors. Pediatr Neurol. 2016;58:67-74.
Zoghbi HY. Rett syndrome: what do we know for sure? Nat Neurosci. 2009;12:239-240.
Ivy AS, et al. Rett syndrome: a timely review from recognition to current clinical approaches and clinical study updates. Semin Pediatr Neurol. 2021;37:100881.
Percy AK, et al. Rett syndrome diagnostic criteria: lessons from the natural history study. Ann Neurol. 2010;68:951-955.
Gold WA, et al. Rett syndrome: a genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci. 2018;9:167-176.
Chahrour M, et al. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007;56:422-437.
Cosentino L, et al. Rett syndrome before regression: a time window of overlooked opportunities for diagnosis and intervention. Neurosci Biobehav Rev. 2019;107:115-135.
Patrizi A, et al. Chronic administration of the N-methyl-D-aspartate receptor antagonist ketamine improves Rett syndrome phenotype. Biol Psychiatry. 2016;79:755-764.
Smith-Hicks CL, et al. Randomized open-label trial of dextromethorphan in Rett syndrome. Neurology. 2017;89:1684-1690.
ClinicalTrials.gov. A study to evaluate ketamine for the treatment of Rett syndrome. Accessed February 12, 2023. https://www.clinicaltrials.gov/ct2/show/study/NCT03633058
Kaufmann WE, et al. ANAVEX2-73 (blarcamesine), a sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome. Pharmacol Biochem Behav. 2019;187:172796.
ClinicalTrials.gov. Study of ANAVEX2-73 in patients with Rett syndrome. Accessed February 12, 2023. https://www.clinicaltrials.gov/ct2/show/NCT03758924
ClinicalTrials.gov. ANAVEX2-73 study in pediatric patients with Rett syndrome (EXCELLENCE). Accessed February 12, 2023. https://www.clinicaltrials.gov/ct2/show/NCT04304482
Glaze DG, et al. A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of Rett syndrome. Pediatr Neurol. 2017;76:37-46.
Glaze DG, et al. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019;92:e1912-e1925.
Neul JL, et al. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022;114:106704.
Bassuk AG. Gene therapy for Rett syndrome. Genes Brain Behav. 2022;21:e12754.
ClinicalTrials.gov. Safety and efficacy of TSHA-102 in adult females with Rett syndrome (REVEAL adult study). Accessed February 15, 2023. https://clinicaltrials.gov/ct2/show/NCT05606614

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CME / ABIM MOC Information

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Faculty and Disclosures

Faculty

Constance L. Smith-Hicks, MD, PhD

Alan K. Percy, MD

Jeffrey Neul, MD, PhD

Editors

Pakinam Aboulsaoud, PharmD

Megan Breuer, PhD

Compliance Reviewer

Amanda Jett, PharmD, BCACP

Peer Reviewer

CME / ABIM MOC

Exploring the Spectrum of Rett Syndrome: Diagnosis, Symptom Burden, and Care

Credits Available

You Are Eligible For

Target Audience and Goal Statement

Disclosures

Faculty

Constance L. Smith-Hicks, MD, PhD

Alan K. Percy, MD

Jeffrey Neul, MD, PhD

Editors

Pakinam Aboulsaoud, PharmD

Megan Breuer, PhD

Compliance Reviewer

Amanda Jett, PharmD, BCACP

Peer Reviewer

Accreditation Statements

For Physicians

Instructions for Participation and Credit

Exploring the Spectrum of Rett Syndrome: Diagnosis, Symptom Burden, and Care

References