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Down syndrome, Down's syndrome, ASD, autism, autistic

G Warner, P Howlin, E Salomone, J Moss, T Charman
BACKGROUND: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. METHOD: Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK...
January 2017: Journal of Intellectual Disability Research: JIDR
Changsheng Li, Michele Schaefer, Christy Gray, Ya Yang, Orion Furmanski, Sufang Liu, Paul Worley, C David Mintz, Feng Tao, Roger A Johns
Autism is a heterogeneous developmental disorder characterized by impaired social interaction, impaired communication skills, and restricted and repetitive behavior. The abnormal behaviors of these patients can make their anesthetic and perioperative management difficult. Evidence in the literature suggests that some patients with autism or specific autism spectrum disorders (ASD) exhibit altered responses to pain and to anesthesia or sedation. A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3+/Δc )...
March 2017: Neurotoxicology and Teratology
Michael Bidinosti, Paolo Botta, Sebastian Krüttner, Catia C Proenca, Natacha Stoehr, Mario Bernhard, Isabelle Fruh, Matthias Mueller, Debora Bonenfant, Hans Voshol, Walter Carbone, Sarah J Neal, Stephanie M McTighe, Guglielmo Roma, Ricardo E Dolmetsch, Jeffrey A Porter, Pico Caroni, Tewis Bouwmeester, Andreas Lüthi, Ivan Galimberti
SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). We used unbiased, quantitative proteomics to identify changes in the phosphoproteome of Shank3-deficient neurons. Down-regulation of protein kinase B (PKB/Akt)-mammalian target of rapamycin complex 1 (mTORC1) signaling resulted from enhanced phosphorylation and activation of serine/threonine protein phosphatase 2A (PP2A) regulatory subunit, B56β, due to increased steady-state levels of its kinase, Cdc2-like kinase 2 (CLK2)...
March 11, 2016: Science
Alessandra Pecorelli, Franco Cervellati, Giuseppe Belmonte, Giulia Montagner, PhiAnh Waldon, Joussef Hayek, Roberto Gambari, Giuseppe Valacchi
A potential role for immune dysfunction in autism spectrum disorders (ASD) has been well established. However, immunological features of Rett syndrome (RTT), a genetic neurodevelopmental disorder closely related to autism, have not been well addressed yet. By using multiplex Luminex technology, a panel of 27 cytokines and chemokines was evaluated in serum from 10 RTT patients with confirmed diagnosis of MECP2 mutation (typical RTT), 12 children affected by classic autistic disorder and 8 control subjects. The cytokine/chemokine gene expression was assessed by real time PCR on mRNA of isolated peripheral blood mononuclear cells (PBMCs)...
January 2016: Cytokine
Leonardo Cerliani, Maarten Mennes, Rajat M Thomas, Adriana Di Martino, Marc Thioux, Christian Keysers
IMPORTANCE: Individuals with autism spectrum disorder (ASD) exhibit severe difficulties in social interaction, motor coordination, behavioral flexibility, and atypical sensory processing, with considerable interindividual variability. This heterogeneous set of symptoms recently led to investigating the presence of abnormalities in the interaction across large-scale brain networks. To date, studies have focused either on constrained sets of brain regions or whole-brain analysis, rather than focusing on the interaction between brain networks...
August 2015: JAMA Psychiatry
Marie Moore Channell, B Allyson Phillips, Susan J Loveall, Frances A Conners, Paige M Bussanich, Laura Grofer Klinger
BACKGROUND: Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD...
2015: Journal of Neurodevelopmental Disorders
Ingrid Ya I Sun, Fernanda Dreux Miranda Fernandes
INTRODUCTION: The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. The family has a major role as a facilitator of this process. Therefore the difficulties of these families in communicating with children with communication disorders are an important issue to be assessed in order to support orientations to families. PURPOSE: The present study aimed to identify and compare communication difficulties perceived by parents of children with Down Syndrome (DS), Autism Spectrum Disorders (ASD) and Specific Language Impairment (SLI)...
July 2014: CoDAS
Jae-Young Koh, Joon Seo Lim, Hyae-Ran Byun, Min-Heui Yoo
Whereas aberrant brain connectivity is likely the core pathology of autism-spectrum disorder (ASD), studies do not agree as to whether hypo- or hyper-connectivity is the main underlying problem. Recent functional imaging studies have shown that, in most young ASD patients, cerebral cortical regions appear hyperconnected, and cortical thickness/brain size is increased. Collectively, these findings indicate that developing ASD brains may exist in an altered neurotrophic milieu. Consistently, some ASD patients, as well as some animal models of ASD, show increased levels of brain-derived neurotrophic factor (BDNF)...
2014: Molecular Brain
Georgina Warner, Joanna Moss, Patrick Smith, Patricia Howlin
Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties...
August 2014: Autism Research: Official Journal of the International Society for Autism Research
Hilgo Bruining, Marinus Jc Eijkemans, Martien Jh Kas, Sarah R Curran, Jacob As Vorstman, Patrick F Bolton
BACKGROUND: Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations. METHODS: We tested this assumption by analyzing the Autism Diagnostic Interview-Revised (ADI-R) symptom profiles in samples comprising six genetic disorders that carry an increased risk for ASD (22q11.2 deletion, Down's syndrome, Prader-Willi, supernumerary marker chromosome 15, tuberous sclerosis complex and Klinefelter syndrome; total n = 322 cases, groups ranging in sample sizes from 21 to 90 cases)...
February 11, 2014: Molecular Autism
Darold A Treffert
It was 126 years ago that Down first described savant syndrome as a specific condition and 70 years ago that Kanner first described Early Infantile Autism. While as many as one in ten autistic persons have savant abilities, such special skills occur in other CNS conditions as well such that approximately 50 % of cases of savant syndrome have autism as the underlying developmental disability and 50 % are associated with other disabilities. This paper sorts out realities from myths and misconceptions about both savant syndrome and autism spectrum disorders (ASD) that have developed through the years...
March 2014: Journal of Autism and Developmental Disorders
Gary E Martin, Molly Losh, Bruno Estigarribia, John Sideris, Joanne Roberts
BACKGROUND: Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time or the role of autism in language development in FXS. AIMS: To compare three domains of language production (vocabulary, syntax, pragmatics) over time within and across groups of boys with FXS with and without autism spectrum disorder (FXS-ASD, FXS-O), boys with DS, and typically developing (TD) boys...
July 2013: International Journal of Language & Communication Disorders
Dimitrios I Zafeiriou, Athina Ververi, Vaios Dafoulis, Efrosini Kalyva, Euthymia Vargiami
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc...
June 2013: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Andrew Pickles, Michelle C St Clair, Gina Conti-Ramsden
We investigate two aspects of the autism triad, communication and social difficulties, in relatives of specific language impairment (SLI) probands (with and without additional autistic symptomatology) as compared to relatives of autism spectrum disorder (ASD) and Down's syndrome (DS) probands. Findings involving 726 first degree relatives of 85 SLI, 99 ASD and 36 DS probands revealed a higher rate of communication difficulties in relatives of both subgroups of SLI probands compared to ASD and DS relatives. Similar levels of social deficits were found in relatives of SLI + ASD and ASD probands...
January 2013: Journal of Autism and Developmental Disorders
Jo Moss, Caroline Richards, Lisa Nelson, Chris Oliver
We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%, respectively. We then evaluated the behavioural profile of individuals with DS who scored above cut-off for ASD (DS+ASD; N = 17) compared with those with DS-only (N = 17) and individuals with idiopathic ASD (N = 17), matched for adaptive behaviour skills and ASD symptom severity (ASD group only)...
July 2013: Autism: the International Journal of Research and Practice
C Richards, C Oliver, L Nelson, J Moss
BACKGROUND: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals with Fragile X and Down syndromes and examine person characteristics associated with self-injury across and within these groups. METHOD: Carers of individuals with ASD (n = 149; mean age = 9.98, SD = 4.86), Fragile X syndrome (n = 123; mean age = 15...
May 2012: Journal of Intellectual Disability Research: JIDR
Bryan Paton, Jakob Hohwy, Peter G Enticott
Autism spectrum disorder (ASD) is characterised by differences in unimodal and multimodal sensory and proprioceptive processing, with complex biases towards local over global processing. Many of these elements are implicated in versions of the rubber hand illusion (RHI), which were therefore studied in high-functioning individuals with ASD and a typically developing control group. Both groups experienced the illusion. A number of differences were found, related to proprioception and sensorimotor processes. The ASD group showed reduced sensitivity to visuotactile-proprioceptive discrepancy but more accurate proprioception...
September 2012: Journal of Autism and Developmental Disorders
N Y Ji, G T Capone, W E Kaufmann
BACKGROUND: The diagnostic validity of autism spectrum disorder (ASD) based on Diagnostic and Statistical Manual of Mental Disorders (DSM) has been challenged in Down syndrome (DS), because of the high prevalence of cognitive impairments in this population. Therefore, we attempted to validate DSM-based diagnoses via an unbiased categorisation of participants with a DSM-independent behavioural instrument. METHODS: Based on scores on the Aberrant Behaviour Checklist - Community, we performed sequential factor (four DS-relevant factors: Autism-Like Behaviour, Disruptive Behaviour, Hyperactivity, Self-Injury) and cluster analyses on a 293-participant paediatric DS clinic cohort...
November 2011: Journal of Intellectual Disability Research: JIDR
E B Mukaetova-Ladinska, E Perry, M Baron, C Povey
BACKGROUND: Although autism in children and in adults attracts attention with respect to clinical and research needs, autism in the older individuals has not been considered to any degree. We review the evidence for urgently addressing the question of ageing in people with autistic spectrum disorder (ASD), focusing on those with disability. METHODS: Perspectives are reviewed in relation to demographics, experiences of relatives or carers, anticipated residential care needs, requirement for specifically designed cognitive assessment tools and importance of initiating new brain ageing research initiatives in this area...
February 2012: International Journal of Geriatric Psychiatry
Daniel A Rossignol, Richard E Frye
AIM: The aim of this study was to investigate melatonin-related findings in autism spectrum disorders (ASD), including autistic disorder, Asperger syndrome, Rett syndrome, and pervasive developmental disorders, not otherwise specified. METHOD: Comprehensive searches were conducted in the PubMed, Google Scholar, CINAHL, EMBASE, Scopus, and ERIC databases from their inception to October 2010. Two reviewers independently assessed 35 studies that met the inclusion criteria...
September 2011: Developmental Medicine and Child Neurology
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