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1.
Chinese Journal of Contemporary Pediatrics ; (12): 733-736, 2013.
Artigo em Chinês | WPRIM | ID: wpr-241433

RESUMO

<p><b>OBJECTIVE</b>To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS.</p><p><b>METHODS</b>Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities.</p><p><b>RESULTS</b>AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness.</p><p><b>CONCLUSIONS</b>AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.</p>


Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Asperger , Diagnóstico , Psicologia , Comorbidade , Inteligência
2.
Chinese Journal of Medical Genetics ; (6): 697-699, 2010.
Artigo em Chinês | WPRIM | ID: wpr-234333

RESUMO

<p><b>OBJECTIVE</b>To investigate the association of DNA methyltransferase 3B (DNMT3B) gene polymorphism with the development of early-onset schizophrenia.</p><p><b>METHODS</b>A single nucleotide polymorphism (rs6119954) of DNMT3B gene was genotyped in 279 early-onset schizophrenic patients and 395 healthy controls, using TaqMan SNP Genotyping Assays. To detect the interaction between the DNMT3B gene and environmental factors, the prenatal information of the patients was collected.</p><p><b>RESULTS</b>Genotype distribution of the rs6119954 locus was significantly different between patients and controls (Chi-square = 12.27, P< 0.01). The frequency of the G allele of this locus was significantly higher in patients than in controls (Chi-square = 12.76, P< 0.01). The G allele was highly associated with an earlier age of onset (P= 0.026). No interaction between the DNMT3B gene and environmental factors was found.</p><p><b>CONCLUSION</b>DNMT3B gene is associated with early-onset schizophrenia and rs6119954 may plays an important role in age of onset of schizophrenia.</p>


Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Gravidez , Adulto Jovem , Fatores Etários , DNA (Citosina-5-)-Metiltransferases , Genética , Meio Ambiente , Frequência do Gene , Ligação Genética , Predisposição Genética para Doença , Polimorfismo Genético , Genética , Esquizofrenia , Genética
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