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1.
J Intellect Disabil Res ; 57(12): 1093-103, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22974197

RESUMO

BACKGROUND: Assessment of higher visual processing functions mostly requires active cooperation of participants, which is problematic in children with intellectual disabilities (ID). To circumvent this, we applied remote eye tracking to quantify (ab)normal visual orienting responses in children with ID in terms of reaction times to visual stimuli. METHODS: We presented visual stimuli (cartoon, coherent form, and coherent motion) to 127 children (2-14 years) with developmental and/or ID (risk group) and simultaneously measured their orienting ocular motor responses. Reaction times to fixation (RTF) in the risk group were compared with RTF values of an age-matched control group. RESULTS: Overall, in 72% of the children in the risk group, RTF values to cartoon were delayed, in 47% to form, and in 38% to motion. The presence of delayed reaction times was highest in the group of children >4 years with ID. CONCLUSION: Our data show that a majority of children with developmental and/or ID have delayed visual orienting responses. This suggests that this group has increased risk for higher visual processing dysfunctions. Future studies are planned to correlate abnormal orienting responses to type of brain damage and to dissociate the responses from ocular motor disorders.


Assuntos
Deficiências do Desenvolvimento/fisiopatologia , Percepção de Forma/fisiologia , Deficiência Intelectual/fisiopatologia , Percepção de Movimento/fisiologia , Orientação/fisiologia , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/epidemiologia , Feminino , Fixação Ocular/fisiologia , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Estimulação Luminosa/métodos , Prevalência , Tempo de Reação/fisiologia , Fatores de Risco
2.
Genet Couns ; 17(3): 333-40, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17100202

RESUMO

Velocardiofacial syndrome (VCFS) is a syndrome with a known, but variable clinical and behavioural phenotype. Most reported cases are patients of a relatively young age. The development of the behavioural phenotype and psychopathology in older patients with VCFS is less known. We present a case of a 52 year old male patient with VCFS and a deletion in chromosome band 22q11.2. He presents with typical symptoms reported in the behavioural phenotype, autistic features and an overall deteriorating process, which fulfils the DSMIV criteria for dementia.


Assuntos
Transtorno Autístico/complicações , Transtorno Autístico/genética , Demência/complicações , Demência/genética , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/genética , Cromossomos Humanos Par 22/genética , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/genética , Demência/diagnóstico , Manual Diagnóstico e Estatístico de Transtornos Mentais , Deleção de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Fenótipo , Índice de Gravidade de Doença , Inquéritos e Questionários
3.
Ned Tijdschr Geneeskd ; 144(35): 1688-92, 2000 Aug 26.
Artigo em Holandês | MEDLINE | ID: mdl-10981237

RESUMO

OBJECTIVE: To determine the incidence of reported shigellosis in Amsterdam (1991-1998) and the factors related to the secondary attack rate of shigellosis. DESIGN: Retrospective. METHODS: From an automated data bank data were collected on all registered shigellosis patients in Amsterdam in the period 1991-1998, and their contacts found by contact tracing. RESULTS: 567 Patients with shigellosis had been reported and a Shigella infection has been diagnosed in 96 of the 983 contacts. The annual incidence decreased statistically significantly from 13 to 8/100.000. 329 males and 334 females were infected. The highest number of cases was found in children from 0-4 years and among adults from 20-34 years. Of the 663 patients 106 (16%) required hospitalization; for children under 7 this proportion was 30% (32/108). Among the contacts (excluding the 14 contacts with the same foreign source and the same first sickness day as the index patient) the secondary attack rate was 8%. Young age, of both the patient and the contact was independently related to a higher secondary attack rate. CONCLUSION: With contact tracing for shigellosis a large number of secondary infections were found. Given the high infection rate and large number of hospitalisations among children, contact tracing should focus at this young age group.


Assuntos
Busca de Comunicante/estatística & dados numéricos , Transmissão de Doença Infecciosa/estatística & dados numéricos , Disenteria Bacilar/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Pré-Escolar , Busca de Comunicante/métodos , Disenteria Bacilar/prevenção & controle , Disenteria Bacilar/transmissão , Feminino , Hospitalização/tendências , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Sistema de Registros/estatística & dados numéricos , Estudos Retrospectivos , Sorotipagem , Shigella/isolamento & purificação
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