1. {{Correction: cholesterol metabolism is altered in rett syndrome: a study on plasma and primary cultured fibroblasts derived from patients}}. {PLoS One}. 2014; 9(11): e114654.
[This corrects the article DOI: 10.1371/journal.pone.0104834.].
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2. Brunsdon VE, Colvert E, Ames C, Garnett T, Gillan N, Hallett V, Lietz S, Woodhouse E, Bolton P, Happe F. {{Exploring the cognitive features in children with autism spectrum disorder, their co-twins, and typically developing children within a population-based sample}}. {J Child Psychol Psychiatry}. 2014.
BACKGROUND: The behavioural symptoms of autism spectrum disorder (ASD) are thought to reflect underlying cognitive deficits/differences. The findings in the literature are somewhat mixed regarding the cognitive features of ASD. This study attempted to address this issue by investigating a range of cognitive deficits and the prevalence of multiple cognitive atypicalities in a large population-based sample comprising children with ASD, their unaffected co-twins, and typically developing comparison children. METHODS: Participants included families from the Twins Early Development Study (TEDS) where one or both children met diagnostic criteria for ASD. Overall, 181 adolescents with a diagnosis of ASD and 73 unaffected co-twins were included, plus an additional 160 comparison control participants. An extensive cognitive battery was administered to measure IQ, central coherence, executive function, and theory of mind ability. RESULTS: Differences between groups (ASD, co-twin, control) are reported on tasks assessing theory of mind, executive function, and central coherence. The ASD group performed atypically in significantly more cognitive tasks than the unaffected co-twin and control groups. Nearly a third of the ASD group presented with multiple cognitive atypicalities. CONCLUSIONS: Multiple cognitive atypicalities appear to be a characteristic, but not universal feature, of ASD. Further work is needed to investigate whether specific cognitive atypicalities, either alone or together, are related to specific behaviours characteristic of ASD.
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3. Klusek J, Roberts JE, Losh M. {{Cardiac Autonomic Regulation in Autism and Fragile X Syndrome: A Review}}. {Psychol Bull}. 2014.
Despite the significance of efforts to understand the biological basis of autism, progress in this area has been hindered, in part, by the considerable heterogeneity in the disorder. Fragile X syndrome (FXS), a monogenic condition associated with high risk for autism, may pave the way for the dissection of biological heterogeneity within idiopathic autism. This article adopts a cross-syndrome biomarker approach to evaluate potentially overlapping profiles of cardiac arousal dysregulation (and broader autonomic dysfunction) in autism and FXS. Approaches such as this, aimed at delineating shared mechanisms across genetic syndromes, hold great potential for improving diagnostic precision, promoting earlier identification, and uncovering key systems that can be targeted in pharmaceutical/behavioral interventions. Biomarker approaches may be vital to deconstructing complex psychiatric disorders and are currently promoted as such by major research initiatives such as the NIMH Research Domain Criteria (RDoC). Evidence reviewed here supports physiological dysregulation in a subset of individuals with autism, as evidenced by patterns of hyperarousal and dampened parasympathetic vagal tone that overlap with the well-documented physiological profile of FXS. Moreover, there is growing support for a link between aberrant cardiac activity and core deficits associated with autism, such as communication and social impairment. The delineation of physiological mechanisms common to autism and FXS could lend insight into relationships between genetic etiology and behavioral endstates, highlighting FMR1 as a potential candidate gene. Research gaps and potential pitfalls are discussed to inform timely, well-controlled biomarker research that will ultimately promote better diagnosis and treatment of autism and associated conditions. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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4. O’Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. {{Recurrent de novo mutations implicate novel genes underlying simplex autism risk}}. {Nat Commun}. 2014; 5: 5595.
Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes. These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5. We also show that mutation carriers generally have lower IQs and enrichment for seizures. These data begin to distinguish genetically distinct subtypes of autism important for aetiological classification and future therapeutics.
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5. Piochon C, Kloth AD, Grasselli G, Titley HK, Nakayama H, Hashimoto K, Wan V, Simmons DH, Eissa T, Nakatani J, Cherskov A, Miyazaki T, Watanabe M, Takumi T, Kano M, Wang SS, Hansel C. {{Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism}}. {Nat Commun}. 2014; 5: 5586.
A common feature of autism spectrum disorder (ASD) is the impairment of motor control and learning, occurring in a majority of children with autism, consistent with perturbation in cerebellar function. Here we report alterations in motor behaviour and cerebellar synaptic plasticity in a mouse model (patDp/+) for the human 15q11-13 duplication, one of the most frequently observed genetic aberrations in autism. These mice show ASD-resembling social behaviour deficits. We find that in patDp/+ mice delay eyeblink conditioning-a form of cerebellum-dependent motor learning-is impaired, and observe deregulation of a putative cellular mechanism for motor learning, long-term depression (LTD) at parallel fibre-Purkinje cell synapses. Moreover, developmental elimination of surplus climbing fibres-a model for activity-dependent synaptic pruning-is impaired. These findings point to deficits in synaptic plasticity and pruning as potential causes for motor problems and abnormal circuit development in autism.
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6. Rieth SR, Stahmer AC, Suhrheinrich J, Schreibman L. {{Examination of the prevalence of stimulus overselectivity in children with ASD}}. {J Appl Behav Anal}. 2014.
Many individuals with autism spectrum disorders (ASD) display stimulus overselectivity, wherein a subset of relevant components in a compound stimulus controls responding, which impairs discrimination learning. The original experimental research on stimulus overselectivity in ASD was conducted several decades ago; however, interventions for children with ASD now typically include programming to target conditional discriminations in ways that might minimize the prevalence of stimulus overselectivity. The present study assessed 42 children who had been diagnosed or educationally identified with ASD using a discrimination learning assessment. Of these 42 children, 19% displayed overselective responding, which is a lower percentage than that seen in early research. Possible explanations for this decreased percentage, implications for intervention, and future directions for research are discussed.
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7. Tovar AT, Fein D, Naigles LR. {{Grammatical Aspect Is A Strength in the Language Comprehension of Young Children with Autism}}. {J Speech Lang Hear Res}. 2014.
Purpose: The comprehension of tense/aspect morphology by children with ASD was assessed via Intermodal Preferential Looking (IPL) to determine whether this population’s difficulties with producing these morphemes extended to their comprehension. Method: Four-year-old participants were assessed twice, four months apart. They viewed a video which presented side-by-side ongoing and completed events paired with familiar verbs with past tense and progressive morphology. Their eye movements were recorded and coded offline; the IPL measures included percentage of looking time at, and latency of first look to, the matching scene. Spontaneous speech samples were also obtained, and coded for number of words, past tense, and progressive inflections. Results: Relative to their baseline preferences, these four-year-old children with ASD looked more quickly to and longer at the matching scene for both morphemes. Children who produced more words, progressive, and past morphemes, as well as who performed better on standardized language assessments, demonstrated better comprehension of -ing. Conclusion: Overall these children with ASD demonstrated consistent comprehension of grammatical aspect morphology; moreover, their degree of comprehension was found to correlate with spontaneous production and standardized test scores.
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8. Van der Hallen R, Evers K, Brewaeys K, Van den Noortgate W, Wagemans J. {{Global Processing Takes Time: A Meta-Analysis on Local-Global Visual Processing in ASD}}. {Psychol Bull}. 2014.
What does an individual with autism spectrum disorder (ASD) perceive first: the forest or the trees? In spite of 30 years of research and influential theories like the weak central coherence (WCC) theory and the enhanced perceptual functioning (EPF) account, the interplay of local and global visual processing in ASD remains only partly understood. Research findings vary in indicating a local processing bias or a global processing deficit, and often contradict each other. We have applied a formal meta-analytic approach and combined 56 articles that tested about 1,000 ASD participants and used a wide range of stimuli and tasks to investigate local and global visual processing in ASD. Overall, results show no enhanced local visual processing nor a deficit in global visual processing. Detailed analysis reveals a difference in the temporal pattern of the local-global balance, that is, slow global processing in individuals with ASD. Whereas task-dependent interaction effects are obtained, gender, age, and IQ of either participant groups seem to have no direct influence on performance. Based on the overview of the literature, suggestions are made for future research. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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9. van Tongerloo MA, van Wijngaarden PJ, van der Gaag RJ, Lagro-Janssen AL. {{Raising a child with an Autism Spectrum Disorder ‘If this were a partner relationship, I would have quit ages ago’}}. {Fam Pract}. 2014.
BACKGROUND: The aim of the study was to determine the experiences of parents having a child with Autism Spectrum Disorder (ASD) and what kind of support parents would like to receive in primary care. METHODS: Interviews were held with 29 main caregivers, in combination with a standardized questionnaire on quality of life. RESULTS: Virtually all parents experienced tremendous shortcomings as a caregiver of their affected child and therefore felt guilty both towards their child with ASD and towards their other children. Most parents felt the burden was beyond their possibilities. The perceived physical and mental health was rather fair. They also wished that healthcare professionals should properly listen to them and must share their decisions instead of making decisions without them having a say. They mostly appreciated practical tips for every day handling the child. CONCLUSIONS: The burden on parents of raising a child with ASD is too high. Parents like caregivers to listen carefully to their experiences and to facilitate shared decision-making. Outreaching professionals who provide practical assistance are most highly valued.
