A comparison of the development of audiovisual integration in children with autism spectrum disorders and typically developing children

This study aimed to investigate the development of audiovisual integration in children with Autism Spectrum Disorder (ASD). Audiovisual integration was measured using the McGurk effect in children with ASD aged 7–16 years and typically developing children (control group) matched approximately for age, sex, nonverbal ability and verbal ability. Results showed that the children with ASD were delayed in visual accuracy and audiovisual integration compared to the control group. However, in the audiovisual integration measure, children with ASD appeared to ‘catch-up’ with their typically developing peers at the older age ranges. The suggestion that children with ASD show a deficit in audiovisual integration which diminishes with age has clinical implications for those assessing and treating these children

Psychiatric Disorder Criteria and their Application to Research in Different Racial Groups

BACKGROUND: The advent of standardized classification and assessment of psychiatric disorders, and considerable joint efforts among many countries has led to the reporting of international rates of psychiatric disorders, and inevitably, their comparison between different racial groups. RESULTS: In neurologic diseases with defined genetic etiologies, the same genetic cause has different phenotypes in different racial groups. CONCLUSION: We suggest that genetic differences between races mean that diagnostic criteria refined in one racial group, may not be directly and simply applicable to other racial groups and thus more effort needs to be expended on defining diseases in other groups. Cross-racial confounds (in addition to cultural confounds) make the interpretation of rates in different groups even more hazardous than seems to have been appreciated

Dementia and mild cognitive impairment in patients with Parkinson's disease Demência e transtorno cognitivo leve em pacientes com doença de Parkinson

The objective of this research was to assess the occurrence of cognitive impairment in 32 individuals (average age: 67.2 years old) with Parkinson' disease (PD). Procedures: clinical-neurological assessment; modified Hoehn and Yahr staging scale (HYS); standard neuropsychological battery of CERAD (Consortium to Establish a Registry for Alzheimer' Disease); Pfeffer questionnaire; and Clinical Dementia Rating. A comparison was made with a control group (CG), consisting of 26 individuals with similar age and educational level but without cognitive impairment. The PD patients showed an inferior performance in the CERAD battery when compared to the CG. Three PD sub-groups were characterised according to cognition: no cognitive impairment - 15 cases; mild cognitive impairment - 10; dementia - 7 cases. There was a significant association between motor disability (HYS) and the occurrence of dementia. Dementia and mild cognitive impairment frequently occur in PD patients and should be investigated in a routine way.<br>O objetivo desta pesquisa foi avaliar a ocorrência de déficits cognitivos em 32 indivíduos (idade média: 67,2 anos) com doença de Parkinson (DP). Procedimentos: avaliação clínico-neurológica, escala de Hoehn and Yahr modificada (EHY), bateria neurospicológica do CERAD (Consortium to Establish a Registry for Alzheimer' Disease), questionário de Pfeffer e escore clínico da demência (Clinical Dementia Rating). Foi feita comparação com grupo controle (GC) de 26 indivíduos sem declínio cognitivo, com idade e nível educacional similares. Os pacientes com DP tiveram desempenho inferior na bateria CERAD, quando comparados ao do GC. Foram caracterizados 3 subgrupos com PD segundo a cognição: sem déficits cognitivos - 15 casos; transtorno cognitivo leve - 10; demência - 7 casos. Houve associação entre comprometimento motor e ocorrência de demência. Demência e transtorno cognitivo leve são freqüentes em pacientes com DP e devem ser investigados de modo rotineiro

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

Families with autosomal dominant frontotemporal dementia and amyotrophic lateral sclerosis (FTD/ALS) have previously been linked to a locus on chromosome 9p21. We describe the clinical phenotype and pathology of a large family with autosomal dominant FTD/ALS with nine affected members originating from Gwent in South Wales, UK. We also further refine the locus on chromosome 9p21 using a haplotype sharing approach and assess heterogeneity in 9p21 linked families. Within this family, affected individuals present with either FTD or ALS or both diseases simultaneously. In addition there was marked phenotypic variation including ataxia, Parkinsonism, psychosis and visuo-spatial cognitive deficits. The pathological features of the three cases described were consistent with type 2 FTD pathology, as previously reported in similar families. However, we also report distinctive cerebellar and glial pathology and a significant proportion of TDP-43 negative inclusions. No mutations in known genes for FTD or ALS were found. We identified a large 4.8-megabase haplotype on chromosome 9p21, which was shared by all affected family members. This haplotype overlaps and limits the previously reported FTD/ALS linkage region on chromosome 9p21. Sequencing of this region did not identify any evidence of a pathogenic exonic mutation. This suggests that the pathogenic change affects non-coding DNA and that the disease is caused by variation in gene or protein expression