A tablet computer-assisted motor and language skills training programme to promote communication development in children with autism: development and pilot study

Autism is a heterogenous condition, encompassing many different subtypes and presentations. Of those people with autism who lack communicative speech, some are more skilled at receptive language than their expressive difficulty might suggest. This disparity between what can be spoken and what can be understood correlates with motor and especially oral motor abilities, and thus may be a consequence of limits to oral motor skill. Point OutWords, tablet-based software targeted for this subgroup, builds on autistic perceptual and cognitive strengths to develop manual motor and oral motor skills prerequisite to communication by pointing or speaking. Although typical implementations of user-centred design rely on communicative speech, Point OutWords users were involved as co-creators both directly via their own nonverbal behavioural choices and indirectly via their communication therapists’ reports; resulting features include vectorised, high-contrast graphics, exogenous cues to help capture and maintain attention, customisable reinforcement prompts, and accommodation of open-loop visuomotor control

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

International audienceAutism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs

Classification of Turbidity Levels in the Texas Marine Coastal Zone

.The unsupervised Iterative Self-Organizing Clustering System (ISOCLS) and the supervised Earth Resources Interactive Processing System (ERIPS) were used to detect, delineate and classify near-surface turbidity patterns in the Galveston and Trinity Bays, Texas and adjacent coastal waters. Data used in the analysis was ERTS-l Multispectral Scanner (MSS) digital data in the visible spectral bands from 0.5 to 1.1 micrometers, and related in situ water measurements. Theoretical considerations suggest that because solar radiation attenuates with water depth and water constituents as a function of wavelength, classification of turbidity levels based on spectral characteristics is a classification based on spectral signatures from varying water depths; that is, a classification of spatially different points. In classification of turbidity therefore, combinations of spectral radiance in several visible and near infrared bands should yield varying geographic patterns. An experiment was designed to 1) study turbidity classification utilizing ERTS-l multispectral scanner data, and 2) to calibrate spectral reflectance with turbidity levels. Preliminary results indicate theoretical and empirical compatibility in classification using a single channel of information and the potential for ground calibration of the ERTS-l multispectral scanner data measurement of turbidity. Additionally it was found that turbidity induces linearity in 2 channels for the distribution of water as a class and that the unsupervised IS0CL5 classification procedure handled the non Gaussian distribution better than the ERIP5 supervised technique of classification

Effects of Delay, Question Type, and Socioemotional Support on Episodic Memory Retrieval by Children with Autism Spectrum Disorder.

Twenty-seven autistic children and 32 typically developing (TD) peers were questioned about an experienced event after a two-week delay and again after a two-month delay, using the Revised National Institute of Child Health and Human Development (NICHD) Investigative Interview Protocol. Recall prompts elicited more detailed and more accurate responses from children than recognition prompts. Autistic children recalled fewer correct narrative details than TD peers when questioned using open invitations, cued invitations, and directive questions. Nonetheless, they were as accurate as TD peers when responding to all types of prompts. The informativeness and accuracy of children's reports remained unchanged over time. Social support was beneficial when children were interviewed for the first time but not after a longer delay.Fundação para a Ciência e Tecnologia(FCT), Portuga

X-linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits

Background: X-linked ichthyosis (XLI) ( steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved in attentional processes. We have therefore undertaken a systematic study of autism and attention deficit hyperactivity disorder (ADHD) in boys with XLI.Methods: Cases of XLI were recruited from families originally ascertained when pregnancies with STS deficiency were identified through a routine maternal screening programme. Boys with XLI were assessed for ADHD and autism using standardised questionnaires and interviews. Deletions of the STS gene were identified and characterised by analysis of genomic DNA and/or fluorescent in situ hybridisation.Results: 25 boys with XLI were assessed for autism and ADHD. 40% fulfilled DSM-IV criteria for a diagnosis of ADHD, 80% of which were inattentive subtype. ADHD diagnoses were present in those with both deletions and presumed point mutations of STS. Additionally, five boys, from three unrelated families, fulfilled criteria for an autistic spectrum disorder or related language/communication difficulty, and all had an unusually large deletion of the STS gene with loss of the neuroligin 4 (NLGN4) gene. None of the boys with the typical deletion or presumed point mutations of STS demonstrated autistic difficulties.Conclusions: STS deficiency may be a risk factor for ADHD with predominantly inattentive symptoms. Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.</p

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

Background: X-linked ichthyosis (XLI) ( steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved in attentional processes. We have therefore undertaken a systematic study of autism and attention deficit hyperactivity disorder (ADHD) in boys with XLI.Methods: Cases of XLI were recruited from families originally ascertained when pregnancies with STS deficiency were identified through a routine maternal screening programme. Boys with XLI were assessed for ADHD and autism using standardised questionnaires and interviews. Deletions of the STS gene were identified and characterised by analysis of genomic DNA and/or fluorescent in situ hybridisation.Results: 25 boys with XLI were assessed for autism and ADHD. 40% fulfilled DSM-IV criteria for a diagnosis of ADHD, 80% of which were inattentive subtype. ADHD diagnoses were present in those with both deletions and presumed point mutations of STS. Additionally, five boys, from three unrelated families, fulfilled criteria for an autistic spectrum disorder or related language/communication difficulty, and all had an unusually large deletion of the STS gene with loss of the neuroligin 4 (NLGN4) gene. None of the boys with the typical deletion or presumed point mutations of STS demonstrated autistic difficulties.Conclusions: STS deficiency may be a risk factor for ADHD with predominantly inattentive symptoms. Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.</p

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres.Methods: Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities.Results: One hundred and eighty-one cases were diagnosed according to International Classification of Diseases - version 10 criteria as having an autism spectrum disorder (autistic-like Pervasive Developmental Disorder) and 40 cases as having other disorders. Twenty-one (11.6%) of the children with autism spectrum disorders had a possibly causal condition compared with six (15%) of the children with other diagnoses. One child with an autism spectrum disorder had a paternally inherited familial duplication of 15q11-13. The pattern of genotype-phenotype correlation within the family indicated that this form of abnormality might carry a risk for developmental difficulties, although the risk did not appear to be specific for autism spectrum disorders.Conclusion: The overall rate of possibly causal medical and cytogenetic conditions in children with autism spectrum disorders was low and no different from the rate of disorder in children with other developmental/neuropsychiatric disorders that attended the same clinics. Further research is required to determine whether paternal duplication of 15q11-13 gives rise to adverse developmental outcomes