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Song, Xue-Ke; Lee, Cassandra; So, Wing-Chee – Journal of Autism and Developmental Disorders, 2022
Phenotypical heterogeneity in language abilities is a hallmark of autism but remains poorly understood. The present study collected naturalistic language samples from parent-child interactions. We quantified verbal abilities (mean length of utterance, tokens, types) of 50 Chinese-speaking children (M = 5; 6) and stratified subgroups based on their…
Descriptors: Genetics, Verbal Ability, Chinese, Autism
Siu, Michelle T.; Goodman, Sarah J.; Yellan, Isaac; Butcher, Darci T.; Jangjoo, Maryam; Grafodatskaya, Daria; Rajendram, Rageen; Lou, Youliang; Zhang, Rujun; Zhao, Chunhua; Nicolson, Rob; Georgiades, Stelios; Szatmari, Peter; Scherer, Stephen W.; Roberts, Wendy; Anagnostou, Evdokia; Weksberg, Rosanna – Journal of Autism and Developmental Disorders, 2021
Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, "OXTR," in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD)…
Descriptors: Genetics, Autism, Pervasive Developmental Disorders, Biochemistry
Klein-Tasman, Bonita P.; van der Fluit, Faye; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Children
Interagency Autism Coordinating Committee, 2016
Each year, the Interagency Autism Coordinating Committee (IACC) releases its annual list of scientific advances that represent significant progress in the field. The 20 studies selected have given new insight into the underlying biology of autism spectrum disorder (ASD) and potential risk factors, examined the state of the science in early…
Descriptors: Pervasive Developmental Disorders, Autism, Research, Biology
Bakken, Trine Lise; Hoidal, Siv Helene – International Journal of Developmental Disabilities, 2019
Background: Mental health services for patients intellectual disabilities (ID) and additional mental illnesses are only sparsely studied. Objective: The objective was to describe a representative sample of patients with ID in a specialized psychiatric department. Methods: Data were collected from case files in a 7-year period. Of 143 invited…
Descriptors: Patients, Psychiatric Hospitals, Behavior Disorders, Posttraumatic Stress Disorder
Correia, F.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G. – Journal of Autism and Developmental Disorders, 2015
Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two…
Descriptors: Pervasive Developmental Disorders, Autism, Etiology, Behavior Problems
Vierck, Esther; Silverman, Jeremy M. – Journal of Autism and Developmental Disorders, 2015
Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…
Descriptors: Autism, Pervasive Developmental Disorders, Differences, Fathers
Benjamin, David P.; McDuffie, Andrea S.; Thurman, Angela J.; Kover, Sara T.; Mastergeorge, Ann M.; Hagerman, Randi J.; Abbeduto, Leonard – Journal of Speech, Language, and Hearing Research, 2015
Purpose: This study examined use of a speaker's direction of gaze during word learning by boys with fragile X syndrome (FXS), boys with nonsyndromic autism spectrum disorder (ASD), and typically developing (TD) boys. Method: A fast-mapping task with follow-in and discrepant labeling conditions was administered. We expected that the use of speaker…
Descriptors: Autism, Males, Pervasive Developmental Disorders, Genetic Disorders
Garg, Shruti; Plasschaert, Ellen; Descheemaeker, Mie-Jef; Huson, Susan; Borghgraef, Martine; Vogels, Annick; Evans, D. Gareth; Legius, Eric; Green, Jonathan – Journal of Autism and Developmental Disorders, 2015
Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study…
Descriptors: Pervasive Developmental Disorders, Autism, Profiles, Genetic Disorders
Hogan-Brown, Abigail L.; Losh, Molly; Martin, Gary E.; Mueffelmann, Deborah J. – American Journal on Intellectual and Developmental Disabilities, 2013
Whereas pragmatic language difficulties are characteristic of both autism and Fragile X syndrome, it is unclear whether such deficits are qualitatively similar or whether certain skills are differentially affected. This study compared narrative competence in boys with autism, Fragile X syndrome, Down syndrome, and typical development. Results…
Descriptors: Males, Story Telling, Autism, Pervasive Developmental Disorders
Emberti Gialloreti, Leonardo; Pardini, Matteo; Benassi, Francesca; Marciano, Sara; Amore, Mario; Mutolo, Maria Giulia; Porfirio, Maria Cristina; Curatolo, Paolo – Journal of Autism and Developmental Disorders, 2014
Recent years have seen an increase in the use of retinal nerve fiber layer (RNFL) evaluation as an easy-to-use, reproducible, proxy-measure of brain structural abnormalities. Here, we evaluated RNFL thickness in a group of subjects with high functioning autism (HFA) or with Asperger Syndrome (AS) to its potential as a tool to study autism…
Descriptors: Autism, Pervasive Developmental Disorders, Physiology, Control Groups
Losh, Molly; Martin, Gary E.; Lee, Michelle; Klusek, Jessica; Sideris, John; Barron, Sheila; Wassink, Thomas – Journal of Autism and Developmental Disorders, 2017
Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of…
Descriptors: Genetics, Autism, Pervasive Developmental Disorders, Parents
Lee, Nancy Raitano; Wallace, Gregory L.; Adeyemi, Elizabeth I.; Lopez, Katherine C.; Blumenthal, Jonathan D.; Clasen, Liv S.; Giedd, Jay N. – Journal of Child Psychology and Psychiatry, 2012
Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and…
Descriptors: Autism, Language Impairments, Language Skills, Genetic Disorders
Cornish, Kim; Cole, Victoria; Longhi, Elena; Karmiloff-Smith, Annette; Scerif, Gaia – American Journal on Intellectual and Developmental Disabilities, 2012
Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys with the condition. Attention is a key factor constraining interactions with the…
Descriptors: Genetic Disorders, Mental Retardation, Congenital Impairments, Attention
McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi; Abbeduto, Leonard – Journal of Autism and Developmental Disorders, 2013
Fast-mapping paradigms have not been used previously to examine the process of word learning in boys with fragile X syndrome (FXS), who are likely to have intellectual impairment, language delays, and symptoms of autism. In this study, a fast-mapping task was used to investigate associative word learning in 4- to 10-year-old boys with FXS relative…
Descriptors: Autism, Genetic Disorders, Mental Retardation, Congenital Impairments
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