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Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome.
- Source :
- Journal of Pediatrics; Oct2021, Vol. 237, p244-244, 1p
- Publication Year :
- 2021
-
Abstract
- <bold>Objective: </bold>To investigate the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability.<bold>Study Design: </bold>Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. A total of 120 individuals provided 290 recordings from which 170 observation pairs were available for comparison. The Rett Syndrome Hand Function Scale was used to classify a level of hand function observed in each video on a range from unable to grasp, pick up, and hold objects to skillful manipulation of large and small objects.<bold>Results: </bold>Approximately one-third of the population lost some hand function over time. Younger children (<6 years) rather than adults were at greater risk of deterioration in hand function. Clinical severity, as indicated by walking ability or genotype, played a lesser role. There was no identified pattern between genotype and the stability of hand function skills. Rather, mutations associated with milder (p.Arg133Cys, p.Arg294∗) and greater (p.Arg106Trp, p.Thr158Met) clinical severity were both associated with greater risks of decline.<bold>Conclusions: </bold>Genotype was a lesser predictor of loss of hand function beyond the early regression period, and younger children were particularly vulnerable to further loss of hand function compared with adults. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00223476
- Volume :
- 237
- Database :
- Supplemental Index
- Journal :
- Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 152518018
- Full Text :
- https://doi.org/10.1016/j.jpeds.2021.06.060