1. Bohm J, Diefenbacher A, Heinrich M, Sappok T. {{[Autism spectrum disorders in adults with intellectual disabilities : Frequencies and characteristics]}}. {Der Nervenarzt}. 2018.
OBJECTIVE: Collation of frequencies and clinical characteristics of autism spectrum disorders (ASD) in persons with intellectual disability (ID). METHODS: Cross-sectional analysis of a clinical psychiatric sample of 710 adults with ID and mental disorders. RESULTS: The frequency of ASD in an adult sample with ID was 19%. The occurrence of ASD was associated with a higher severity of ID, male gender (in mild to moderate ID), anticonvulsive therapy and reduced employment rates in workshops. CONCLUSION: The ASD are a frequent clinical diagnosis in adults with ID.
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2. Chen G, Jin Z, Li S, Jin X, Tong S, Liu S, Yang Y, Huang H, Guo Y. {{Early life exposure to particulate matter air pollution (PM1, PM2.5 and PM10) and autism in Shanghai, China: A case-control study}}. {Environment international}. 2018.
BACKGROUND: The evidence for adverse effects of ambient particulate matter (PM) pollution on mental health is limited. Studies in Western countries suggested higher risk of autism spectrum disorder (ASD) associated with PM air pollution, but no such study has been done in developing countries. METHODS: A case-control study was performed in Shanghai with a multi-stage random sampling design. Children’s exposures to PM1, PM2.5 and PM10 (particulate matter with aerodynamic diameter<1mum, < 2.5mum and<10mum, respectively) during the first three years after birth were estimated with satellite remote sensing data. Conditional logistic regression was used to examine the PM-ASD association. RESULTS: In total, 124 ASD cases and 1240 healthy controls were included in this study. The median levels of PM1, PM2.5 and PM10 exposures during the first three years of life were 48.8mug/m(3), 66.2mug/m(3) and 95.4mug/m(3), respectively, and the interquartile range (IQR) for these three pollutants were 4.8mug/m(3), 3.4mug/m(3) and 4.9mug/m(3), respectively. The adjusted odds ratios (and 95% confidence intervals) of ASD associated with an IQR increase for PM1, PM2.5 and PM10 were 1.86 (1.09, 3.17), 1.78 (1.14, 2.76) and 1.68 (1.09, 2.59), respectively. Higher ORs of ASD associated with PM pollution were observed in the second and the third year after birth. CONCLUSIONS: Exposures to PM1, PM2.5 and PM10 during the first three years of life were associated with the increased risk of ASD and there appeared to be stronger effects of ambient PM pollution on ASD in the second and the third years after birth. Lien vers le texte intégral (Open Access ou abonnement)
3. Hu CC, Sun YJ, Liu CX, Zhou BR, Li CY, Xu Q, Xu X. {{NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report}}. {BMC medical genetics}. 2018; 19(1): 192.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disability or congenital hemidysplasia. CASE PRESENTATION: An 8-year-old boy presented with a 260-kb NSDHL-containing duplication at Xq28 (151,868,909 – 152,129,300) inherited from his mother. His clinical features included defects in social communication and interaction, restricted interests, attention deficit, impulsive behaviour, minor facial anomalies and serum free fatty acid abnormality. CONCLUSION: This is the first report of an ASD patient with a related NSDHL-containing duplication at Xq28. Further studies and case reports are required for genetic research to demonstrate that duplication as well as mutation can cause neurodevelopmental diseases.
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4. Ingersoll B, Straiton D, Casagrande K, Pickard K. {{Community providers’ intentions to use a parent-mediated intervention for children with ASD following training: an application of the theory of planned behavior}}. {BMC research notes}. 2018; 11(1): 777.
OBJECTIVES: The theory of planned behavior (TPB) suggests that attitudes, subjective norms, and perceived behavioral control influence intentions to perform a behavior, and that intentions predict behavior. The present studies examined whether the TPB is applicable to community providers’ use of a parent-mediated intervention for children with autism spectrum disorder (ASD) following introductory training and whether TPB constructs can be modified with training. RESULTS: Study 1 demonstrated that community providers’ intentions to use the intervention post-training predicted their use of the intervention 6 months later [X(2)(1) = 8.03, p = .005]. Study 2 found that provider education (beta = .23, t = 2.27, p = .025), attitudes (beta = .21, t = 2.09, p = .039), and perceived behavioral control (beta = .21, t = 2.15, p = .035) were all unique predictors of intentions. There was a significant increase in providers’ ratings of subjective norms (Z = – 2.46, p = .014) and perceived behavioral control (Z = – 7.36, p < .001) from pre- to post-training. Attitudes towards parent-mediated interventions were highly favorable pre-training and did not significantly increase. Results expand on previous findings and demonstrate the applicability of attitudes and perceived behavioral control in understanding community providers' use of evidence-based practices for children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
5. Lawrence KE, Hernandez LM, Bookheimer SY, Dapretto M. {{Atypical longitudinal development of functional connectivity in adolescents with autism spectrum disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
Autism spectrum disorder (ASD) is consistently associated with alterations in brain connectivity, but there are conflicting results as to where and when individuals with ASD display increased or reduced functional connectivity. Such inconsistent findings may be driven by atypical neurodevelopmental trajectories in ASD during adolescence, but no longitudinal studies to date have investigated this hypothesis. We thus examined the functional connectivity of three neurocognitive resting-state networks-the default mode network (DMN), salience network, and central executive network (CEN)-in a longitudinal sample of youth with ASD (n = 16) and without ASD (n = 22) studied during early/mid- and late adolescence. Functional connectivity between the CEN and the DMN displayed significantly altered developmental trajectories in ASD: typically developing (TD) controls-but not youth with ASD-exhibited an increase in negative functional connectivity between these two networks with age. This significant interaction was due to the ASD group displaying less negative functional connectivity than the TD group during late adolescence only, with no significant group differences in early/mid-adolescence. These preliminary findings suggest a localized age-dependency of functional connectivity alterations in ASD and underscore the importance of considering age when examining brain connectivity. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Brain connectivity may develop differently during adolescence in youth with autism spectrum disorder (ASD). We looked at changes in brain connectivity over time within individuals and found that, for some brain regions, adolescents with ASD did not show the same changes in brain connectivity that typically developing adolescents did. This suggests it is important to consider age when studying brain connectivity in ASD.
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6. Li HH, Li CL, Gao D, Pan XY, Du L, Jia FY. {{[Preliminary application of Early Start Denver Model in children with autism spectrum disorder]}}. {Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics}. 2018; 20(10): 793-8.
OBJECTIVE: To investigate the clinical effect of the Early Start Denver Model (ESDM) in children with autism spectrum disorder (ASD). METHODS: Forty children aged 2-5 years who were diagnosed with ASD from September 2017 to January 2018 were enrolled in the study and were randomly divided into conventional intervention group and ESDM intervention group (n=20 each). Both groups were assessed by the Aberrant Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Clinical Global Impression-Severity (CGI-S) scale before intervention and by the ABC, CARS, CGI-S scale, and Clinical Global Impression-Improvement (CGI-I) scale after 3 months of intervention. RESULTS: After 3 months of intervention, the total scores of ABC and CARS were both significantly decreased in the two groups (P<0.01); the scores on the social withdrawal and hyperactivity subscales of ABC were significantly decreased in the conventional intervention group (P<0.01), and the scores on the mood swings, social withdrawal, hyperactivity, and stereotyped behavior subscales of ABC were significantly decreased in the ESDM intervention group (P<0.01). Compared with the conventional intervention group, the ESDM intervention group had significantly greater changes in total score of ABC, scores on three subscales of ABC (mood swings, social withdrawal, and hyperactivity), and total score of CARS after intervention (P<0.05). After 3 months of intervention, the CGI-I scoring system showed that the disease improvement was significantly better in the ESDM intervention group than in the conventional intervention group (P<0.05). CONCLUSIONS: Both conventional intervention and ESDM intervention can improve the social withdrawal and hyperactivity in children with ASD aged 2 to 5 years, but ESDM is more effective in improving the aberrant behavior of children with ASD. Lien vers Pubmed
7. Li WQ, Liu X, Dai Y, Cheng Q. {{[Age of diagnosis of autism spectrum disorder in children and factors influencing the age of diagnosis]}}. {Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics}. 2018; 20(10): 799-803.
OBJECTIVE: To investigate the age of diagnosis of autism spectrum disorder (ASD) and the factors influencing the age of diagnosis in children. METHODS: A retrospective analysis was performed for the clinical data of 1 691 children who visited in the Children’s Hospital of Chongqing Medical University for the first time and were definitely diagnosed with ASD between February 2011 and July 2017. A multiple linear regression model was used to identify the factors influencing the age of diagnosis of ASD. RESULTS: The ASD children had a mean age of 35+/-17 months (range 9-175 months) at diagnosis. Of all 1 691 children, the children who received a diagnosis of ASD at the age of 24-35 months accounted for the highest proportion (46.13%, 780/1 691), followed by those at the age of >/=36 months (33.41%, 565/1 691). The multiple linear regression analysis showed that the children who had language disorders or lived in the main urban area or whose parents had a high education level had a younger age at diagnosis than other children (P<0.05). CONCLUSIONS: Most ASD children have an age of 24-35 months at diagnosis. The age of diagnosis of ASD is associated with children's symptoms, living area, and parents' education level. Lien vers Pubmed
8. Liu J, Tsang T, Jackson L, Ponting C, Jeste SS, Bookheimer SY, Dapretto M. {{Altered Lateralization of Dorsal Language Tracts in 6-Week-Old Infants at Risk for Autism}}. {Developmental science}. 2018: e12768.
Altered structural connectivity has been identified as a possible biomarker of autism spectrum disorder (ASD) risk in the developing brain. Core features of ASD include impaired social communication and early language delay. Thus, examining white matter tracts associated with language may lend further insight into early signs of ASD risk and the mechanisms that underlie language impairments associated with the disorder. Evidence of altered structural connectivity has previously been detected in 6-month-old infants at high familial risk for developing ASD. However, as language processing begins in utero, differences in structural connectivity between language regions may be present in the early infant brain shortly after birth. Here we investigated key white matter pathways of the dorsal language network in 6-week-old infants at high (HR) and low (LR) risk for ASD to identify atypicalities in structural connectivity that may predict altered developmental trajectories prior to overt language delays and the onset of ASD symptomatology. Compared to HR infants, LR infants showed higher fractional anisotropy (FA) in the left superior longitudinal fasciculus (SLF); in contrast, in the right SLF, HR infants showed higher FA than LR infants. Additionally, HR infants showed more rightward lateralization of the SLF. Across both groups, measures of FA and lateralization of these pathways at 6 weeks of age were related to later language development at 18 months of age as well as ASD symptomatology at 36 months of age. These findings indicate that early differences in the structure of language pathways may provide an early predictor of future language development and ASD risk. This article is protected by copyright. All rights reserved.
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9. Lopata C, Thomeer ML, Rodgers JD, Donnelly JP, McDonald CA, Volker MA, Smith TH, Wang H. {{Cluster Randomized Trial of a School Intervention for Children with Autism Spectrum Disorder}}. {Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53}. 2018: 1-12.
There are currently no empirically supported, comprehensive school-based interventions (CSBIs) for children with autism spectrum disorder (ASD) without concomitant intellectual and language disability. This study compared outcomes for a CSBI (schoolMAX) to typical educational programming (services-as-usual [SAU]) for these children. A total of 103 children (6-12 years of age) with ASD (without intellectual and language disability) were randomly assigned by school buildings (clusters) to receive the CSBI (n = 52 completed) or SAU (n = 50 completed). The CSBI was implemented by trained school personnel and targeted social competence and ASD symptoms using social skills groups, emotion recognition instruction, therapeutic activities, behavioral reinforcement, and parent training. Outcome measures tested the effects of the CSBI on social competence and ASD symptoms, as well as potential collateral effects on academic achievement. Outcomes (baseline-to-follow-up) were assessed using tests of social cognition and academic skills and behavioral observations (by masked evaluators) and parent-teacher ratings of ASD symptoms and social/social-communication skills (nonmasked; ClinicalTrials.gov, NCT03338530, https://www.clinicaltrials.gov/ ). The CSBI group improved significantly more than the SAU group on the test of emotion recognition skills and parent-teacher ratings of ASD symptoms (primary outcomes) and social/social-communication skills (secondary outcome). No differences between groups were detected for recess social interactions or academic skills. The CSBI improved several core areas of functioning for children with ASD compared to usual educational programming. Additional intervention elements may be needed to expand the efficacy of the CSBI so that the observed skills/symptom improvements generalize to recess social interactions and/or academic skills are enhanced.
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10. O’Sullivan M, Kearney G. {{Virtual Reality (VR) Technology: Empowering Managers to Reduce and Eliminate Accessibility Barriers for People with Autism Spectrum Disorders}}. {Studies in health technology and informatics}. 2018; 256: 253-61.
Barriers to accessibility are defined as ‘factors in a person’s environment that, through their absence or presence, limit functioning and create disability’ [1]. There are four elements that are incorporated into this term which includes: physical environment, lack of assistive technology, attitudes of others and the lack of or restrictive services, systems and policies [1]. These barriers to accessibility are present for 13% of the Irish population. Many initiatives have been developed and implemented for people with physical disabilities; however, people with intellectual disabilities (ID) remain invisible. This invisible population accounts for 9.7% of our population or 75% of the population of people with disabilities [2]. Thus, it is imperative that we commence to implement Universal Design (UD) approaches that increase accessibility and empower the invisible to become visible. One such invisible group that holds substantial potential to bring immense value to companies is that of people with Autism Spectrum Disorders (ASD) [3]. ASD currently impacts 1 in 68 people worldwide with this figure growing annually at a rate of 10-17% [4]. 80% of people with ASD are either unemployed or underemployed; this can be attributed to barriers to accessibility [5]. Two of the most common barriers to accessibility experienced by those with ASD are environmental and attitudes of others [6,7]. These barriers have the potential to be overcome through the use of Virtual Reality (VR) technology to provide training and education to managers. VR technology is being used to empower managers to reduce these barriers, increase accessibility and develop inclusive environments and cultures. VR technology can be used to empower managers to recognise and reduce the barriers facing those with ASD. VR is a catalyst for managers to be able to identify the environmental barriers facing people with ASD within a work environment. This solution also provides them with the skills necessary to commence making adaptations to the environment to reduce or eliminate these barriers. The use of this technology and paradigm shift brings many benefits for the individual and the company. A mixed method approach has been used for the purposes of data collection. The tools that were utilised were interviews with HR managers and people with ASD; and surveys were circulated to HR managers, senior managers, Chief Executive Officers and people with ASD. The results of these were positive and clearly verified that there is a need to empower managers to increase accessibility within their organisations.
11. Pickard K, Meza R, Drahota A, Brikho B. {{They’re Doing What? A Brief Paper on Service Use and Attitudes in ASD Community-Based Agencies}}. {Journal of mental health research in intellectual disabilities}. 2018; 11(2): 111-23.
This brief paper examined the community services delivered to youth with autism spectrum disorder (ASD) in a Southern Californian city as a way to better understand ASD service provision and service attitudes. Specific goals of the study were to identify the services being delivered within the area, and how the use, perceived evidence and value attached to these services mapped onto recent systematic ASD service reviews. Forty-six providers completed the ASD Strategies and Interventions Survey (ASD-SIS), which consisted of 21 treatment strategies and 22 interventions packages commonly used with children with ASD. Participants: 1) indicated each treatment strategy and intervention package they use; and 2) rated the perceived evidence and value of each treatment strategy and intervention package they endorsed using. Results demonstrated that a variety of treatment strategies and intervention packages, both with and without an established evidence base, were reportedly being delivered to youth with ASD through community-based agencies. Additionally, a large number of providers reported not knowing the evidence of many treatment strategies and intervention packages. Finally, although no relationship was found between evidence base and use, perceived evidence, and value for treatment strategies, providers reported significantly higher use, perceived evidence and value for established intervention packages. Results demonstrate the need to more effectively disseminate strategies that can support providers in selecting services to deliver to youth with ASD, and underscore the need to better understand the community service landscape on a larger scale.
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12. Pirone A, Alexander JM, Koenig JB, Cook-Snyder DR, Palnati M, Wickham RJ, Eden L, Shrestha N, Reijmers L, Biederer T, Miczek KA, Dulla CG, Jacob MH. {{Social Stimulus Causes Aberrant Activation of the Medial Prefrontal Cortex in a Mouse Model With Autism-Like Behaviors}}. {Frontiers in synaptic neuroscience}. 2018; 10: 35.
Autism spectrum disorder (ASD) is a highly prevalent and genetically heterogeneous brain disorder. Developing effective therapeutic interventions requires knowledge of the brain regions that malfunction and how they malfunction during ASD-relevant behaviors. Our study provides insights into brain regions activated by a novel social stimulus and how the activation pattern differs between mice that display autism-like disabilities and control littermates. Adenomatous polyposis coli (APC) conditional knockout (cKO) mice display reduced social interest, increased repetitive behaviors and dysfunction of the beta-catenin pathway, a convergent target of numerous ASD-linked human genes. Here, we exposed the mice to a novel social vs. non-social stimulus and measured neuronal activation by immunostaining for the protein c-Fos. We analyzed three brain regions known to play a role in social behavior. Compared with control littermates, APC cKOs display excessive activation, as evidenced by an increased number of excitatory pyramidal neurons stained for c-Fos in the medial prefrontal cortex (mPFC), selectively in the infralimbic sub-region. In contrast, two other social brain regions, the medial amygdala and piriform cortex show normal levels of neuron activation. Additionally, APC cKOs exhibit increased frequency of miniature excitatory postsynaptic currents (mEPSCs) in layer 5 pyramidal neurons of the infralimbic sub-region. Further, immunostaining is reduced for the inhibitory interneuron markers parvalbumin (PV) and somatostatin (SST) in the APC cKO mPFC. Our findings suggest aberrant excitatory-inhibitory balance and activation patterns. As beta-catenin is a core pathway in ASD, we identify the infralimbic sub-region of the mPFC as a critical brain region for autism-relevant social behavior.
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13. Ribu K. {{Research-Based Educational Support of Undergraduate Students with Autism Spectrum Disorders}}. {Studies in health technology and informatics}. 2018; 256: 25-32.
The numbers of college and university students with autism spectrum disorders (ASD) are steadily rising, but research on their academic performance reports mixed results. The diversity of the population makes it necessary to target each student individually. This paper describes an ongoing study and experience with pedagogical intervention for ten undergraduate IT students at Oslo Metropolitan University (OsloMet) over several years. The intervention design is based on knowledge of research in the field and evidence-based practices, as well as professional skills. Data about student challenges and needs are collected from informal, open-ended interviews with students, in addition to conversations and observation. The goal is to ensure that the students achieve academical success. Plans are currently being made to develop a formal program that will target all students with autism spectrum disorders at OsloMet.
14. Sato Y, Okabe S. {{Nano-scale analysis of synapse morphology in an autism mouse model with 15q11-13 copy number variation using focused ion beam milling and scanning electron microscopy}}. {Microscopy (Oxford, England)}. 2018.
Circuit-level alternations in patients of autism spectrum disorder (ASD) is under active investigation and detailed characterization of synapse morphology in ASD model mice should be informative. We utilized focused ion beam milling and scanning electron microscopy (FIB-SEM) to obtain three-dimensional images of synapses in the layer 2/3 of the somatosensory cortex from a mouse model for ASD with human 15q11-13 chromosomal duplication (15q dup mice). We found a trend of higher spine density and a higher fraction of astrocytic contact with both spine and shaft synapses in 15q dup mice. Measurement of spine synapse structure indicated that the size of the post-synaptic density (PSD), spine head volume, spine head width and spine neck width were smaller in 15q dup mice. Categorization of spine synapses into five classes suggested a trend of less frequent mushroom spines in 15q dup mice. These results suggest relative increase in excitatory synapses with immature morphology but more astrocytic contacts in 15q dup mice, which may be linked to enhanced synapse turnover seen in ASD mouse models.
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15. Tang JSY, Falkmer M, Chen NTM, Blte S, Girdler S. {{Designing a Serious Game for Youth with ASD: Perspectives from End-Users and Professionals}}. {Journal of autism and developmental disorders}. 2018.
Recent years have seen an emergence of social emotional computer games for individuals with Autism Spectrum Disorder (ASD). These games are heterogeneous in design with few underpinned by theoretically informed approaches to computer-based interventions. Guided by the serious game framework outlined by Whyte et al. (Journal of Autism and Developmental Disorders 45(12):1-12, 2014), this study aimed to identify the key motivating and learning features for serious games targeting emotion recognition skills from the perspectives of 11 youth with ASD and 11 experienced professionals. Results demonstrated that youth emphasised the motivating aspects of game design, while the professionals stressed embedding elements facilitating the generalisation of acquired skills. Both complementary and differing views provide suggestions for the application of serious game principles in a potential serious game.
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16. Wang J, Liu J, Gao Y, Wang K, Jiang K. {{Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children}}. {BMC pediatrics}. 2018; 18(1): 338.
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders. Genetically based subtype identification may prove more beneficial not only in illuminating the course and prognosis, but also for individualized treatment targets of an ASD sub-group. Increasing evidence has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an ASD sub-group. CASE PRESENTATION: Here we describe two ASD cases in children with mild intellectual disability, early motor deficits, and speech delay, without distinct structural or EEG brain anomalies. Exome sequencing revealed a novel heterozygous nonsense/missense mutations(c.2647C > A/p.E883X and c.1677C > A/p.M559I respectively) in CHD8 gene. CONCLUSIONS: There were few cases in the literature reporting de novo mutation of CHD8 in ASD. As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD.
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17. Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X, Wen Y. {{Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation}}. {BMC medical genetics}. 2018; 19(1): 191.
BACKGROUND: MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations. METHODS: In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patients presented with Rett syndrome (RTT) or RTT-like syndrome, and 68 patients with non-syndromic ID. Targeted next-generation sequencing (NGS) was performed. Detailed clinical information was collected. RESULTS: Five heterozygous MEF2C gene mutations were identified, of which three were novel. The MEF2C mutant rate was 4.5% (5/112) in total, and 6.8% (3/44) in the RTT (-like) cohort. All patients with MEF2C gene mutation presented with cognitive impairment, gross motor delay, speech disorder and autistic features. Four patients had epilepsy, which responded well to antiepileptic drugs. One female was diagnosed with classical RTT, two females with RTT-like syndrome, and two males with non-syndromic ID. Generally, the phenotype of two males with relatively downstream mutations (c.565C > T, p.Arg 189*; c.766C > T, p.Arg 256*) was milder than that of three females with upstream mutations (c.48C > G, p.Asn16Lys; c.334G > T, p.Glu112* and c.403-1G > T). CONCLUSIONS: Our findings expanded the current understanding of the consequences of MEF2C dysfunctions, especially MEF2C point mutations. MEF2C mutations are associated with a broad clinical spectrum, ranged from classical RTT to non-syndromic ID. Through our study, it can be inferred that there is correlation between the phenotype and MEF2C-genotype, the mutation site. Overall, the MEF2C gene mutational analysis should be performed in ID cohort, especially in patients with features overlapped with RTT.
