lps-responsive beige-like anchor (lrba) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (cvid) in association with autoimmunity and/or inflammatory bowel disease (ibd)-like phenotype. we here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia an...

OBJECTIVE To compare the early social-communicative development of younger siblings of children with autism spectrum disorders (ASDs) with that of younger siblings of children with typical development, using parental report and child-based measures. DESIGN Group comparison. SETTING Vanderbilt University, between July 1, 2003, and July 31, 2006. PARTICIPANTS Younger siblings of children wi...

objective: the aim of this study was to compare the mental health of mothers of children with autism and those of control group. methods: sample of this study consists of 32 mothers of children with autistic disorder and 29 mothers of children without autism referring to hospitals of ahvaz city using convenience sampling. all subjects were asked to complete demographic questionnaire and general...

introduction: language impairment is a primary characteristic of children with autism spectrum disorder (asd). however, findings of language deficits in these children have been inconclusive, and many researchers believe that in such children the pattern of language profiles is different from normal children. to determine this pattern, comprehension and expression of syntax were examined in 10 ...

BACKGROUND Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, ac...

BACKGROUND Stimulus-related γ-band oscillations, which may be related to perceptual binding, are reduced in people with autism spectrum disorders (ASD). The purpose of this study was to examine auditory transient and steady-state γ-band findings in first-degree relatives of people with ASD to assess the potential familiality of these findings in ASD. METHODS Magnetoencephalography (MEG) recor...

The recent development in the measurements of spontaneous mental state understanding, employing eye-movements instead of verbal responses, has opened new opportunities for understanding the developmental origin of "mind-reading" impairments frequently described in autism spectrum disorders (ASDs). Our main aim was to characterize the relationship between mental state understanding and the broad...