Publication Date
9-1-2023
Journal
Annals of the Child Neurology Society
DOI
10.1002/cns3.20038
PMID
38496825
PMCID
PMC10939125
PubMedCentral® Posted Date
9-12-2024
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Rett syndrome, hand function, longitudinal assessment, natural history
Abstract
OBJECTIVE: To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with
METHOD: We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus in this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific
RESULTS: Following the initial regression period, hand function continues to decline across the age spectrum in individuals with RTT. Specific differences are noted with steeper declines in hand function among those with milder variants (Group A: R133C, R294X, R306C, and C-terminal truncations) compared to groups composed of individuals with more severe variants.
CONCLUSIONS: These temporal variations in hand use represent specific considerations which could influence the design of clinical trials that test therapies aiming to ameliorate specific functional limitations in individuals with RTT. Furthermore, the distinct impact of specific