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Distribution by Scientific Domains

Humanities and Social Sciences	50%

Selected Abstracts

Profiles of executive function in parents and siblings of individuals with autism spectrum disorders

GENES, BRAIN AND BEHAVIOR, Issue 8 2006
D. Wong
Delineation of a cognitive endophenotype for autism is useful both for exploring the genetic mechanisms underlying the disorder and for identifying which cognitive traits may be primary to it. This study investigated whether first-degree relatives of individuals with autism spectrum disorders (ASDs) demonstrate a specific profile of performance on a range of components of executive function (EF), to determine whether EF deficits represent possible endophenotypes for autism. Parents and siblings of ASD and control probands were tested on EF tasks measuring planning, set-shifting, inhibition and generativity. ASD parents showed poorer performance than control parents on a test of ideational fluency or generativity, and ASD fathers demonstrated a weakness in set-shifting to a previously irrelevant dimension. ASD siblings revealed a mild reduction in ideational fluency and a weakness in non-verbal generativity when compared with control siblings. Neither ASD parents nor siblings displayed significant difficulties with planning or inhibition. These results indicated that the broad autism phenotype may not be characterized primarily by impairments in planning and cognitive flexibility, as had been previously proposed. Weaknesses in generativity emerged as stronger potential endophenotypes in this study, suggesting that this aspect of EF should play a central role in cognitive theories of autism. However, discrepancies in the EF profile demonstrated by parents and siblings suggest that factors related to age or parental responsibility may affect the precise pattern of deficits observed. [source]

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 8 2002
Rebecca H. Mount
Background: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding. No study has tested the specificity of these behavioural features to individuals with RS, compared to individuals with severe to profound mental retardation (SMR). Method: A novel checklist of characteristic RS behavioural and emotional features, the Rett Syndrome Behaviour Questionnaire (RSBQ), was developed to test the type and specificity of behavioural features of RS against those found in girls with SMR. Results: After controlling for the effects of RS-related physical disabilities, the RSBQ discriminated between the groups. Some aspects of the behaviours found to be specific to RS are included in the necessary or supportive RS diagnostic criteria, notably hand behaviours and breathing problems. Additional behavioural features were also more frequently reported in the RS than the SMR group, including mood fluctuations and signs of fear/anxiety, inconsolable crying and screaming at night, and repetitive mouth and tongue movements and grimacing. Conclusions: Full validation of the scale requires confirmation of its discriminatory power and reliability with independent samples of individuals with RS and SMR. Further delineation of the specific profile of behaviours seen in RS may help in identification of the function of the MECP2 gene and in improved differential diagnosis and management of individuals with RS. [source]

Language phenotypes and intervention planning: Bridging research and practice

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2007
Deborah J. Fidler
Abstract This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication, and that intervention planning for children with each syndrome may take an approach informed by these profiles. Issues related to within-group variability, shared outcomes among syndromes, and the need for empirical validation for syndrome-specific recommendations are discussed. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007; 13:47,57. [source]

Net transition probabilities: an approach to subnational level projections of households and housing demand based on census data

POPULATION, SPACE AND PLACE (PREVIOUSLY:-INT JOURNAL OF POPULATION GEOGRAPHY), Issue 6 2006
Peter McDonald
Abstract The authors set out to make medium-term projections of housing demand for subnational regions of Australia. Projections of the numbers of households by household type and age of a household reference person were required. The only possible source of input data at a subnational level was the quinquennial censuses. An innovative approach was developed specifically for the purpose of these projections. This involved the use of ,net transition probabilities' estimated from net changes in household classification types for individuals between censuses in the past, which are then projected into the future. The results of the projection for the period 1996,2001 were evaluated against 2001 Census results. Net transition probabilities were found to be robust, in that their age and sex specific profiles were very similar from one intercensal period to the next. The evaluation concluded that the model used is both practical and highly effective. Overall, the authors found that the projections have a high degree of reliability and produce very useful information concerning the future demand for housing at a regional level. Copyright © 2006 John Wiley & Sons, Ltd. [source]