Reading decoding and comprehension in children with autism spectrum disorders: Evidence from a language with regular orthography

Decoding and comprehension skills in children with autism spectrum disorders (ASD) were analysed in children native speakers of a language (Italian) with a highly regular orthography. Children with ASD were compared to children with matched intellectual functioning: a subgroup of children with ASD and borderline intellectual functioning (BIF) was compared to a subgroup of children with BIF but no signs of ASD; a subgroup of children with ASD and cognitive functioning within normal limits was compared to a group of typically developing children. Children with ASD (whether with or without BIF) showed essentially spared decoding skills in text as well as word and pseudo-word reading; this was at variance with children with BIF who, as a group, showed overall deficient decoding skills, despite considerable individual differences. By contrast, children with ASD (once again, irrespective of the presence of BIF) showed a selective impairment in reading comprehension, just like children with BIF but unlike the typically developing ones. Therefore, results are generally consistent with a profile of hyperlexia for children with ASD learning a regular orthography, as previously reported for other languages. Notably, this pattern was present irrespective of the degree of cognitive impairment, and clearly distinguished these children from those with borderline intellectual functioning but not signs of autism

Eating and Sensory Features of Children With Autism Spectrum Disorder and Their Typically Developing Peers

Importance: Impaired sensory processing is associated with eating problems. There seem to be no previous studies that compare those who have autism spectrum disorder (ASD) with eating problems (ASD-W) and those with ASD without eating problems (ASD-WO) with typically developing (TD) groups. Comparisons are expected to provide further knowledge to guide the intervention programs. Objective: To investigate differences among ASD-W, ASD-WO, and TD groups in eating and sensory features; to detect associations between sensory and eating behaviors and any most involved sensory dimensions; and to search for age-related differences in sensory and eating features in ASD. Design: Nonrandomized comparison study. Setting: Questionnaires administered as parent interviews. Participants: A total of 165 children were recruited: 117 with ASD and 48 TD children. Outcomes and measures: Standardized questionnaires: the Brief Autism Mealtime Behaviors Inventory for eating problems; the Short Sensory Profile and the Sensory Experience Questionnaire for sensory problems. Results: The ASD-W group showed generalized, impaired eating behaviors and turned out to be the most impaired with regard to sensory responsiveness. No differences in feeding behaviors were found between the ASD-WO and TD groups. All children with ASD showed sensory hyper- or hyporesponsiveness. Four main sensory dimensions were found to be associated with eating behaviors in ASD. No age differences were found in the eating and sensory behaviors of children with ASD. Conclusions and relevance: Differing eating and sensory profiles were found between the ASD and TD groups, especially in children with ASD-W. Early eating interventions using sensory stimulations are strongly recommended. What This Article Adds: This study reports novel information derived from the comparisons of children with ASD with eating problems and those with ASD without eating problems with typically developing groups of children

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Abstract Background The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. Results High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. Conclusions We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.</p