Behavioral Profiles in Rett Syndrome: Data from the Natural History Study

Overview

Journal Brain Dev

Publisher Elsevier

Specialty Neurology

Date 2018 Sep 16

PMID 30217666

Citations 27

Authors

Caroline B Buchanan

Jennifer L Stallworth

Alexandra E Scott

Daniel G Glaze

Jane B Lane

Steven A Skinner

Aubin E Tierney

Alan K Percy

Jeffrey L Neul

Walter E Kaufmann

Affiliations

Soon will be listed here.

Abstract

Introduction: Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking.

Objective: In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study.

Methods: Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT. Standard statistical methods including linear regression evaluated internalizing behavioral components from the Child Health Questionnaire (CHQ-PF50) and externalizing components from the Motor Behavioral Assessment (MBA).

Results: We found mildly to moderately severe internalizing behaviors in nearly all individuals with RTT, while externalizing behaviors were mild and uncommon. Internalizing behavior in RTT was comparable to groups with psychiatric disorders. Participants with mixed (internalizing and externalizing) behaviors were younger and less affected overall, but showed prominent self-injury and worsening internalizing behaviors over time.

Conclusions: This study revealed that internalizing behaviors are common at a clinically significant level in RTT. Understanding clinical features associated with behavioral profiles could guide treatment strategies.

Citing Articles

Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome.

Ahrlund-Richter S, Harpe J, Fernandes G, Lam R, Sur M bioRxiv. 2025; .

PMID: 39990439 PMC: 11844379. DOI: 10.1101/2025.02.10.637474.

Rett syndrome.

Gold W, Percy A, Neul J, Cobb S, Pozzo-Miller L, Issar J Nat Rev Dis Primers. 2024; 10(1):84.

PMID: 39511247 DOI: 10.1038/s41572-024-00568-0.

Rett Syndrome: The Emerging Landscape of Treatment Strategies.

Percy A, Ananth A, Neul J CNS Drugs. 2024; 38(11):851-867.

PMID: 39251501 PMC: 11486803. DOI: 10.1007/s40263-024-01106-y.

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.

Kaufmann W, Percy A, Neul J, Downs J, Leonard H, Nues P Orphanet J Rare Dis. 2024; 19(1):296.

PMID: 39138481 PMC: 11323357. DOI: 10.1186/s13023-024-03313-8.

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.

May D, Kponee-Shovein K, Neul J, Percy A, Mahendran M, Downes N J Neurodev Disord. 2024; 16(1):42.

PMID: 39061009 PMC: 11282812. DOI: 10.1186/s11689-024-09557-6.

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