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Related Experiment Video

Updated: Jul 11, 2026

Design, Fabrication, and Administration of the Hand Active Sensation Test HASTe

Design, Fabrication, and Administration of the Hand Active Sensation Test HASTe

Published on: September 8, 2015

Distribution of hand function by age in individuals with Rett syndrome.

Jeffrey L Neul¹, Tim A Benke², Eric D Marsh³

¹Vanderbilt University Medical School, Nashville, TN.

Annals of the Child Neurology Society

|March 18, 2024

Summary

Hand function declines with age in Rett Syndrome (RTT). Milder MECP2 variants show faster hand skill deterioration, impacting clinical trial design for RTT therapies.

Keywords:

Rett syndrome hand function longitudinal assessment natural history

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Last Updated: Jul 11, 2026

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Published on: September 8, 2015

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Published on: March 21, 2025

Area of Science:

Neurodevelopmental disorders
Genetics of neurodevelopmental disorders
Clinical neurology

Background:

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder.
Hand function impairment is a core feature of RTT.
The relationship between MECP2 variants and RTT progression is not fully understood.

Purpose of the Study:

To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome.
To correlate hand function changes with specific MECP2 variants.

Main Methods:

Longitudinal study of 946 girls and young women with RTT.
Data collected between 2006 and 2021 in the US Natural History Study (NHS).
Structured clinical evaluation of hand function skills from age 2 to 18 years, stratified by MECP2 variant groups.

Main Results:

Hand function declines longitudinally across the age spectrum in individuals with RTT after initial regression.
Steeper declines in hand function were observed in individuals with milder MECP2 variants (Group A: R133C, R294X, R306C, C-terminal truncations) compared to those with more severe variants.
Significant differences in the rate of hand function decline were noted among MECP2 variant groups.

Conclusions:

Temporal variations in hand use in RTT necessitate specific considerations for clinical trial design.
The distinct impact of MECP2 variants on clinical severity, particularly hand use, should inform interventional trial strategies.
Understanding these patterns can help develop targeted therapies for functional limitations in RTT.