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Behavioral profiles in Rett syndrome: Data from the natural history study
Caroline B Buchanan1, Jennifer L Stallworth1, Alexandra E Scott1
1Greenwood Genetic Center, SC, United States.
Brain & Development
|September 16, 2018
Summary
Internalizing behaviors like anxiety are prevalent in Rett syndrome (RTT), a neurodevelopmental disorder. Externalizing behaviors are less common, but mixed presentations show worsening symptoms over time.
Area of Science:
- Neurodevelopmental Disorders
- Behavioral Science
- Genetics
Background:
- Rett syndrome (RTT) is a complex neurodevelopmental disorder.
- Known behavioral abnormalities include internalizing (anxiety, social withdrawal) and externalizing (aggression, self-abuse) behaviors.
- A comprehensive evaluation of these behaviors in a large cohort was previously lacking.
Purpose of the Study:
- To describe internalizing and externalizing behavioral profiles in individuals with RTT.
- To analyze data from the multi-center U.S. Rett Natural History Study.
- To identify behavioral patterns in a large RTT cohort.
Main Methods:
- Collected cross-sectional and longitudinal data from 861 females with RTT and 48 females with MECP2 mutations.
- Utilized linear regression to evaluate internalizing behaviors (Child Health Questionnaire) and externalizing behaviors (Motor Behavioral Assessment).
Main Results:
- Nearly all individuals with RTT exhibited mild to moderately severe internalizing behaviors.
- Externalizing behaviors were mild and infrequent.
- Individuals with mixed behaviors were younger, less affected, but showed increased self-injury and worsening internalizing behaviors.
Conclusions:
- Internalizing behaviors are common and clinically significant in Rett syndrome.
- Understanding these behavioral profiles can inform treatment strategies.
- Further research into clinical features associated with behavioral patterns is warranted.
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