[article]
| Titre : |
Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes |
| Type de document : |
texte imprimé |
| Auteurs : |
Priscilla SOLIMAN, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Gerianne ALEXANDER, Auteur |
| Article en page(s) : |
p.4507-4521 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
The present study sought to explore the motor phenotype of 16p11.2 deletion and duplication syndromes in a sample of probands (50.5% female), ranging in age from 6Â months to 17Â years. The extent and variability of motor dysfunction was assessed among carriers of 16p11.2 deletion and duplication syndromes, non-carrier siblings, and non-familial controls using several standardized performance- and informant-based measures. Analyses indicated that probands with either 16p11.2 deletion or duplication syndrome exhibited poorer motor performance compared to familial and non-familial controls. While deletion and duplication carriers performed similarly across several measures of fine-motor functioning, deletion carriers scored significantly lower than duplication carriers on the MABC-2, a comprehensive assessment of both gross- and fine-motor skills. Males and females with a 16p11.2 CNV performed worse on motor tasks compared to non-carrier controls, but there were no sex differences within carrier groups. Results underscore motor impairment as a clear feature of 16p11.2 deletion and duplication syndromes in infancy through adolescence. Motor functioning is discussed as a facet with strong evidence to support early identification practices of ASD. |
| En ligne : |
https://doi.org/10.1007/s10803-025-06874-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=595 |
in Journal of Autism and Developmental Disorders > 56-11 (November 2026) . - p.4507-4521
[article] Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes [texte imprimé] / Priscilla SOLIMAN, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Gerianne ALEXANDER, Auteur . - p.4507-4521. Langues : Anglais ( eng) in Journal of Autism and Developmental Disorders > 56-11 (November 2026) . - p.4507-4521
| Index. décimale : |
PER Périodiques |
| Résumé : |
The present study sought to explore the motor phenotype of 16p11.2 deletion and duplication syndromes in a sample of probands (50.5% female), ranging in age from 6Â months to 17Â years. The extent and variability of motor dysfunction was assessed among carriers of 16p11.2 deletion and duplication syndromes, non-carrier siblings, and non-familial controls using several standardized performance- and informant-based measures. Analyses indicated that probands with either 16p11.2 deletion or duplication syndrome exhibited poorer motor performance compared to familial and non-familial controls. While deletion and duplication carriers performed similarly across several measures of fine-motor functioning, deletion carriers scored significantly lower than duplication carriers on the MABC-2, a comprehensive assessment of both gross- and fine-motor skills. Males and females with a 16p11.2 CNV performed worse on motor tasks compared to non-carrier controls, but there were no sex differences within carrier groups. Results underscore motor impairment as a clear feature of 16p11.2 deletion and duplication syndromes in infancy through adolescence. Motor functioning is discussed as a facet with strong evidence to support early identification practices of ASD. |
| En ligne : |
https://doi.org/10.1007/s10803-025-06874-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=595 |
|  |
Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes in Journal of Autism and Developmental Disorders, 56-11 (November 2026)
