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1.
J Autism Dev Disord ; 49(6): 2488-2491, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31131418

RESUMO

The original version of this article unfortunately published with the incorrect text "details removed for blind review" instead of "Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, UK".

2.
J Autism Dev Disord ; 49(6): 2476-2487, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30941551

RESUMO

Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Síndrome de Cri-du-Chat/diagnóstico , Síndrome de Cornélia de Lange/diagnóstico , Adaptação Psicológica , Adulto , Síndrome de Cornélia de Lange/epidemiologia , Feminino , Seguimentos , Humanos , Masculino
3.
Am J Med Genet C Semin Med Genet ; 169(2): 188-97, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25989416

RESUMO

Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS=67, CdCS=42, and FXS=142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (≤15 yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to become less prominent with age and in CdCS social impairments were reported to be more severe with age. There were no significant changes between T1 and T2 in the severity of ASD characteristics in the CdCS and CdLS groups. The FXS group showed significantly fewer repetitive behaviors and less severe impairments in social interaction over this time frame. The findings suggest that while there may be similarities in overall severity and presentation of ASD characteristics in CdLS and FXS, these characteristics have divergent patterns of development within these groups.


Assuntos
Envelhecimento/psicologia , Transtorno do Espectro Autista/fisiopatologia , Síndrome de Cri-du-Chat/fisiopatologia , Síndrome de Cornélia de Lange/fisiopatologia , Síndrome do Cromossomo X Frágil/fisiopatologia , Adolescente , Adulto , Fatores Etários , Transtorno do Espectro Autista/psicologia , Criança , Comunicação , Síndrome de Cri-du-Chat/psicologia , Síndrome de Cornélia de Lange/psicologia , Feminino , Seguimentos , Síndrome do Cromossomo X Frágil/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
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