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Jiao, Yun; Chen, Rong; Ke, Xiaoyan; Cheng, Lu; Chu, Kangkang; Lu, Zuhong; Herskovits, Edward H. – Journal of Autism and Developmental Disorders, 2012
Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs)…
Descriptors: Autism, Rating Scales, Etiology, Severity (of Disability)
Basile, Emanuele; Villa, L.; Selicorni, A.; Molteni, M. – Journal of Intellectual Disability Research, 2007
Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…
Descriptors: Comparative Analysis, Profiles, Age, Rating Scales
Tsirgiotis, Joanna M.; Young, Robyn L.; Weber, Nathan – Journal of Autism and Developmental Disorders, 2022
Growing evidence suggests that autistic females are more likely to be diagnostically overlooked than males, perhaps due to differences in ASD presentations (van Wijngaarden-Cremers in JAMA 44:627-635, 2014). To investigate specific behaviours in which differences lie, we analysed profiles of 777 children using the Childhood Autism Rating Scale…
Descriptors: Gender Differences, Autism, Pervasive Developmental Disorders, Rating Scales
Artik, Abdülbaki; Isik, Ümit; Gündüz, Bahar Öztelcan; Mizrak, Soycan – International Journal of Developmental Disabilities, 2023
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders in which the underlying pathogenesis and etiologic factors are not fully understood. The blood brain barrier (BBB) ??plays a critical role in central nervous system defense by limiting access to circulating solutes, macromolecules, and cells that can negatively…
Descriptors: Autism Spectrum Disorders, Neurological Organization, Neuropsychology, Foreign Countries
Neal, Corinne N.; Brady, Nancy C.; Fleming, Kandace K. – American Journal on Intellectual and Developmental Disabilities, 2022
This study analyzed narratives of male and female adolescents with fragile X syndrome (FXS). The impact of structural language, cognition and autism symptomatology on narrative skills and the association between narratives and literacy were examined. Narratives from 32 adolescents with FXS (24 males, 8 females) were analyzed for macrostructure.…
Descriptors: Adolescents, Genetic Disorders, Gender Differences, Autism
Fielding-Gebhardt, Heather; Bredin-Oja, Shelley L.; Warren, Steven F.; Brady, Nancy C. – Journal of Autism and Developmental Disorders, 2021
Accurate representation of autism spectrum disorder (ASD) in fragile X syndrome (FXS) is necessary for the field. We examined classifications of ASD using three approaches--Autism Diagnostic Observation Schedule (ADOS-2; Lord et al. 2012), Childhood Autism Rating Scale (CARS2-ST; Schopler et al. 2010), and Vineland Adaptive Behavior Scales…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Disability Identification
Hahn, Laura J.; Brady, Nancy C.; Fleming, Kandace; Warren, Steven F. – Journal of Speech, Language, and Hearing Research, 2016
Purpose: In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method: Participants were 28 children with FXS (24 boys, four girls) and their…
Descriptors: Intellectual Disability, Correlation, Language Skills, Autism
Sterling, Audra M.; Rice, Mabel L.; Warren, Steven F. – Journal of Speech, Language, and Hearing Research, 2012
Purpose: The current study investigated finiteness marking (e.g., he walk "s", he walk "ed") in boys with fragile X syndrome (FXS); the boys were grouped based on receptive vocabulary (i.e., borderline, impaired). Method: Twenty-one boys with the full mutation of fragile X, between the ages of 8 and 16 years participated. The…
Descriptors: Genetic Disorders, Mental Retardation, Congenital Impairments, Males
Frolli, A.; Piscopo, S.; Conson, M. – Journal of Intellectual Disability Research, 2015
Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…
Descriptors: Adolescents, Genetic Disorders, Developmental Delays, Anxiety
Oliveira, Guiomar; Ataide, Assuncao; Marques, Carla; Miguel, Teresa S.; Coutinho, Ana Margarida; Mota-Vieira, Luisa; Goncalves, Esmeralda; Lopes, Nazare Mendes; Rodrigues, Vitor; Carmona da Mota, Henrique; Vicente, Astrid Moura – Developmental Medicine & Child Neurology, 2007
The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332 808 school-aged children in the mainland and 10 910 in the Azores islands.…
Descriptors: Rating Scales, Autism, Foreign Countries, Incidence
Fazzi, E.; Rossi, M.; Signorini, S.; Rossi, G.; Bianchi, P. E.; Lanzi, G. – Developmental Medicine & Child Neurology, 2007
There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic-like behaviours in…
Descriptors: Visual Impairments, Autism, Rating Scales, Blindness