Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

ABSTRACT:

Objective

To characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT).

Methods

Data from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline. For longitudinal data, we used repeated-measures linear and logistic regression models and nonparametric tests.

Results

HS were reported in 922 participants with classic RTT (100%), 73 with atypical severe RTT (97.3%), 74 with atypical mild RTT (96.1%), and 17 females with MECP2 mutations without RTT (34.7%). Individuals with RTT who had classic presentation or severe MECP2 mutations had higher frequency and earlier onset of HS. Heterogeneity of HS types was confirmed, but v

SUBMITTER: Stallworth JL 

PROVIDER: S-EPMC6556084 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature