Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome.
J Pediatr
; 237: 244-249.e3, 2021 Oct.
Article
de En
| MEDLINE
| ID: mdl-34214590
ABSTRACT
OBJECTIVE:
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. STUDYDESIGN:
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.RESULTS:
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.CONCLUSIONS:
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.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Syndrome de Rett
/
Main
/
Activité motrice
Type d'étude:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limites:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
Pays/Région comme sujet:
Oceania
Langue:
En
Journal:
J Pediatr
Année:
2021
Type de document:
Article