Linguistic phenotype in a sample of Arabic speaking children with Williams and fragile X syndromes

The detailed linguistic assessment of children with Williams syndrome (WS) in comparison to typically developing (TD) children and other genetic syndromes such as fragile X syndrome (FXS) could reveal the language specific difficulties and help in better designing of intervention plans. Aim: To investigate the linguistic abilities with detailed syntactic performance in a sample of Egyptian children with WS in comparison to TD and FXS children from the same pool. The participants (n=30) included WS, TD children of similar sex and age of WS group and FXS group matching the WS group for mental age. The linguistic assessment was established using the Wechsler intelligence scale for children-III, Vineland social maturity scale and the standardized Arabic language test. The linguistic abilities of WS group were delayed even in relation to their mental age and when compared to TD children. WS group manifested deficits in past verb tense, manner adverbs and in spatially related syntax. The overall WS group language profile differed from that of FXS group especially regarding Pragmatics. The cognitive assessment revealed differences between the groups. The in depth detailed language assessment supports the presence of certain profile in the Arabic speaking WS participants. Individuals with WS do need language and social intervention plans as early as possible in addition to the original required visuospatial improvement strategies

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

International audienceBackground: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. Methodology: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. Findings: FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. Conclusions: The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism

Emergent literacy skills of Saudi Arabic speaking children with and without developmental language disorder

Research with English-speaking populations has shown that there is a relationship between developmental language disorder (DLD) and emergent literacy skills in children. A small number of Arabic studies have indirectly investigated this relationship in typically developing (TD) children, and children with reading difficulties, and demonstrated the important role of morphosyntactic skills in Arabic reading acquisition. However, none of the previous work has examined the relationship between oral language and emergent literacy skills in children with and without DLD. The aims of this study are twofold: to investigate the language and emergent literacy skills of Saudi Arabic children with DLD aged between 4;0– 6;11 years of age; to compare their performance to age and socioeconomic status matched TD children, and to investigate the relationship between language and emergent literacy skills in both groups. A comprehensive Arabic language and emergent literacy battery was administered. Findings demonstrated that the TD group significantly outperformed the DLD group on most emergent literacy tasks. The DLD group was significantly less accurate than TD group on syllable segmentation, and phoneme awareness skills. There were significant associations between oral language skills and emergent literacy skills in the DLD group. In TD group, vocabulary knowledge and syntactic skills were associated with some emergent literacy skills. Syntactic skills were found to have moderately significant relationship with all emergent literacy skills in both groups. This might suggest the important role of morphosyntactic skills to literacy development in Arabic. Overall, findings were consistent with existing literature, and demonstrated strong relationships between oral language and emergent literacy skills in the Arabic language

Intonation abilities of children with Williams syndrome: a preliminary investigation

Purpose: The authors investigated expressive and receptive intonation abilities in children with Williams syndrome (WS) and the relation of these abilities to other linguistic abilities. Method: Fourteen children with WS, 14 typically developing children matched to the WS group for receptive language (LA), and 15 typically developing children matched to the WS group for chronological age (CA) were compared on a range of receptive and expressive intonation tasks from the Profiling Elements of Prosodic Systems-Child version (PEPS-C) battery. Results: The WS group performed similarly to the LA group on all intonation tasks apart from the long-item imitation task, on which the WS group scored significantly lower than the LA group. When compared with the CA group, the WS group was significantly poorer on all aspects of intonation. Whereas there were a number of significant correlations between the intonation and language measures in the control groups, in the WS group, there was only 1 significant correlation between a PEPS-C task and one of the language measures. Conclusion: As a result of this study, the authors concluded that children with WS have expressive and receptive intonation abilities as expected for their level of language comprehension and that intonation and other linguistic abilities in WS are not strongly related

Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype

This review critically examines the research findings which characterize the cognitive, behavioral, and neuroanatomical features of Williams syndrome (WS). This article analyzes 178 published studies in the WS literature covering the following areas: 1) General intelligence, 2) Language skills, 3) Visuospatial and face processing skills, 4) Behavior patterns and hypersociability, 5) Musical abilities, and 6) Brain structure and function. We identify methodological issues relating to small sample size, use and type of control groups, and multiple measures of task performance. Previously described 'peaks' within the cognitive profile are closely examined to assess their veracity. This review highlights the need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individual