1. {{Testing scenario for intellectual disability, developmental delay, and autism challenged}}. {Am J Med Genet A};2018 (Jan);176(1):7-8.
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2. Arnell S, Jerlinder K, Lundqvist LO. {{Perceptions of Physical Activity Participation Among Adolescents with Autism Spectrum Disorders: A Conceptual Model of Conditional Participation}}. {J Autism Dev Disord};2017 (Dec 13)
Adolescents with an autism spectrum disorder (ASD) are less physically active compared to typically developing peers. The reasons for not being physically active are complex and depend on several factors, which have not been comprehensively described from the adolescent’s perspective. Therefore, the aim was to describe how adolescents with an ASD perceive, experience and reflect on their participation in physical activity. Interviews with 24 adolescents diagnosed with high-functioning ASD, aged 12-16 years, were analysed with qualitative content analysis with an inductive approach. They expressed a variety of reasons determining their willingness to participate, which were conceptualized as: Conditional participation in physical activities. The present study presents an alternative perspective on participation in physical activity, with impact on intervention design.
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3. Bak MYS, Plavnick JB, Byrne SM. {{Vocalizations of minimally verbal children with autism spectrum disorder across the school year}}. {Autism};2017 (Dec 1):1362361317747576.
Little is known about the language trajectories of minimally verbal school-aged children with autism spectrum disorders. The present investigation conducted observations across two elementary schools over an entire school year to analyze the vocal language development of nine minimally verbal children with autism spectrum disorder between the ages of 6 and 10 years, and their educational service providers. A Language Environment Analysis device automatically recorded and disaggregated over 743 h of data on child vocalizations, and vocal interactions with adults. Vocalizations did not increase for eight of the nine participants, and conversational counts between participants and adults were near zero across the entire year. These results speak to the need for additional research examining language development and potential intervention strategies among minimally verbal children with autism spectrum disorder.
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4. Bolis D, Balsters J, Wenderoth N, Becchio C, Schilbach L. {{Beyond Autism: Introducing the Dialectical Misattunement Hypothesis and a Bayesian Account of Intersubjectivity}}. {Psychopathology};2017 (Dec 13);50(6)
Drawing on sociocultural theories and Bayesian accounts of brain function, in this article we construe psychiatric conditions as disorders of social interaction to fully account for their complexity and dynamicity across levels of description and temporal scales. After an introduction of the theoretical underpinnings of our integrative approach, we take autism spectrum conditions (ASC) as a paradigm example and discuss how neurocognitive hypotheses can be translated into a Bayesian formulation, i.e., in terms of predictive processing and active inference. We then argue that consideration of individuals (even within a Bayesian framework) will not be enough for a comprehensive understanding of psychiatric conditions and consequently put forward the dialectical misattunement hypothesis, which views psychopathology not merely as disordered function within single brains but also as a dynamic interpersonal mismatch that encompasses various levels of description. Moving from a mere comparison of groups, i.e., « healthy » persons versus « patients, » to a fine-grained analysis of social interactions within dyads and groups of individuals will open new avenues and may allow to avoid an overly neurocentric scope in psychiatric research as well as help to reduce social exclusion.
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5. Cai Q, Feng L, Yap KZ. {{Systematic Review and Meta-Analysis of Reported Adverse Events of Long-term Intranasal Oxytocin Treatment for Autism Spectrum Disorder}}. {Psychiatry Clin Neurosci};2017 (Dec 12)
Recent studies suggested oxytocin as a possible drug to treat social deficits caused by Autism Spectrum Disorder (ASD), but the safety of intranasal oxytocin in autistic patients is not established. The aim of this review was to characterise the side effect profile of long-term intranasal oxytocin in treatment of ASD compared to placebo. All randomised controlled trials of intranasal oxytocin in the treatment of ASD published before 1 January 2017 that reported safety data were identified from databases including Pubmed, Embase, Cochrane Library, and International Pharmaceutical Abstract. Relevant data from the selected studies were then extracted for meta-analysis to estimate the pooled risk ratio for the most common adverse events. Descriptive analysis of severe adverse events was also conducted. Of the 223 participants in the five included studies, 123 were given oxytocin and 100 given placebos. Nasal discomfort (14.3%), tiredness (7.2%), irritability (9.0%), diarrhoea (4.5%), and skin irritation (4.5%) were the most common adverse events. None of these common adverse events was statistically associated with treatment allocation according to meta-analysis using pooled data (all p-values > 0.1). Five severe adverse events were reported, namely aggression (one in placebo, two in oxytocin) and seizures (one in placebo, one in oxytocin). Results from this systematic review supports intranasal oxytocin to be well tolerated and safe for use in ASD population. Larger clinical trials should be conducted to establish the efficacy of intranasal oxytocin as a treatment of ASD.
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6. Cardon GJ, Hepburn S, Rojas DC. {{Structural Covariance of Sensory Networks, the Cerebellum, and Amygdala in Autism Spectrum Disorder}}. {Front Neurol};2017;8:615.
Sensory dysfunction is a core symptom of autism spectrum disorder (ASD), and abnormalities with sensory responsivity and processing can be extremely debilitating to ASD patients and their families. However, relatively little is known about the underlying neuroanatomical and neurophysiological factors that lead to sensory abnormalities in ASD. Investigation into these aspects of ASD could lead to significant advancements in our general knowledge about ASD, as well as provide targets for treatment and inform diagnostic procedures. Thus, the current study aimed to measure the covariation of volumes of brain structures (i.e., structural magnetic resonance imaging) that may be involved in abnormal sensory processing, in order to infer connectivity of these brain regions. Specifically, we quantified the structural covariation of sensory-related cerebral cortical structures, in addition to the cerebellum and amygdala by computing partial correlations between the structural volumes of these structures. These analyses were performed in participants with ASD (n = 36), as well as typically developing peers (n = 32). Results showed decreased structural covariation between sensory-related cortical structures, especially between the left and right cerebral hemispheres, in participants with ASD. In contrast, these same participants presented with increased structural covariation of structures in the right cerebral hemisphere. Additionally, sensory-related cerebral structures exhibited decreased structural covariation with functionally identified cerebellar networks. Also, the left amygdala showed significantly increased structural covariation with cerebral structures related to visual processing. Taken together, these results may suggest several patterns of altered connectivity both within and between cerebral cortices and other brain structures that may be related to sensory processing.
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7. Crider A, Ahmed AO, Pillai A. {{Altered Expression of Endoplasmic Reticulum Stress-Related Genes in the Middle Frontal Cortex of Subjects with Autism Spectrum Disorder}}. {Mol Neuropsychiatry};2017 (Nov);3(2):85-91.
The endoplasmic reticulum (ER) is an important organelle responsible for the folding and sorting of proteins. Disturbances in ER homeostasis can trigger a cellular response known as the unfolded protein response, leading to accumulation of unfolded or misfolded proteins in the ER lumen called ER stress. A number of recent studies suggest that mutations in autism spectrum disorder (ASD)-susceptible synaptic genes induce ER stress. However, it is not known whether ER stress-related genes are altered in the brain of ASD subjects. In the present study, we investigated the mRNA expression of ER stress-related genes (ATF4, ATF6, PERK, XBP1, sXBP1, CHOP, and IRE1) in the postmortem middle frontal gyrus of ASD and control subjects. RT-PCR analysis showed significant increases in the mRNA levels of ATF4, ATF6, PERK, XBP1, CHOP, and IRE1 in the middle frontal gyrus of ASD subjects. In addition, we found a significant positive association of mRNA levels of ER stress genes with the diagnostic score for stereotyped behavior in ASD subjects. These results, for the first time, provide the evidence of the dysregulation of ER stress genes in the brain of subjects with ASD.
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8. Hwang BJ, Mohamed MA, Brasic JR. {{Molecular imaging of autism spectrum disorder}}. {Int Rev Psychiatry};2017 (Dec);29(6):530-554.
Autism spectrum disorder (ASD) is a condition with onset in early childhood characterized by marked deficits in interpersonal interactions and communication and by a restricted and repetitive range of interests and activities. This review points out key recent findings utilizing molecular imaging including magnetic resonance spectroscopy (MRS) and nuclear neuroimaging techniques such as positron emission tomography (PET) and single-photon emission computed tomography (SPECT). MRS indicates an excitatory/inhibitory imbalance in high-functioning autism. Dysfunction of neurotransmitter and glucose metabolism has been demonstrated by PET and SPECT. Levels of serotonin synthesis in typically developing children are approximately twice those of adults; after the age of 5 years, levels decrease to those of adults. In contrast, levels of serotonin synthesis of children with ASD increase between ages 2 and 15 to 1.5-times adult values. The dopamine transporter is increased in the orbitofrontal cortex of men with ASD. The serotonin transporter is reduced in the brains of children, adolescents, and adults with ASD. Reduced serotonin receptors in the thalamus of adults with ASD are associated with communication difficulties. Glucose metabolism is reduced in the brains of people with ASD. Molecular imaging will provide the preliminary data for promising therapeutic interventions.
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9. Lami F, Egberts K, Ure A, Conroy R, Williams K. {{Measurement properties of instruments that assess participation in young people with autism spectrum disorder: a systematic review}}. {Dev Med Child Neurol};2017 (Dec 12)
AIM: To systematically review the measurement properties of instruments assessing participation in young people with autism spectrum disorder (ASD). METHOD: A search was performed in MEDLINE, PsycINFO, and PubMed combining three constructs (‘ASD’, ‘test of participation’, ‘measurement properties’). Results were restricted to articles including people aged 6 to 29 years. The 2539 identified articles were independently screened by two reviewers. For the included articles, data were extracted using standard forms and their risk of bias was assessed. RESULTS: Nine studies (8 cross-sectional) met the inclusion criteria, providing information on seven different instruments. The total sample included 634 participants, with sex available for 600 (males=494; females=106) and age available for 570, with mean age for these participants 140.58 months (SD=9.11; range=36-624). Included instruments were the school function assessment, vocational index, children’s assessment of participation and enjoyment/preferences for activities of children, experience sampling method, Pediatric Evaluation of Disability Inventory, Computer Adaptive Test, adolescent and young adult activity card sort, and Patient-Reported Outcomes Measurement Information System parent-proxy peer relationships. Seven studies assessed reliability and validity; good properties were reported for half of the instruments considered. Most studies (n=6) had high risk of bias. Overall the quality of the evidence for each tool was limited. INTERPRETATION: Validation of these instruments, or others that comprehensively assess participation, is needed. Future studies should follow recommended methodological standards. WHAT THIS PAPER ADDS: Seven instruments have been used to assess participation in young people with autism. One instrument, with excellent measurement properties in one study, does not comprehensively assess participation. Studies of three instruments that incorporate a more comprehensive assessment of participation have methodological limitations. Overall, limited evidence exists regarding measurement properties of participation assessments for young people with autism.
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10. Lin LY, Huang PC. {{Quality of life and its related factors for adults with autism spectrum disorder}}. {Disabil Rehabil};2017 (Dec 11):1-8.
PURPOSE: Improved quality of life is an important outcome for adults with autism spectrum disorder. However, little research has examined factors associated with quality of life among adults with autism spectrum disorder. METHOD: This study comparing 66 adults with autism spectrum disorder (intelligence quotient > 70) aged 20-38 years with neuro-typical adults investigated their quality of life and related factors. All the participants were interviewed with questionnaires by a registered occupational therapist. RESULTS: Participants with autism spectrum disorder scored significantly lower in all domains of quality of life than did the controls. Adults with autism spectrum disorder reported higher anxiety level, more loneliness, and higher scores on four sensory quadrants than neuro-typical adults. The predictors of the physical health domain were anxiety and sensation-sensitivity behaviors. Loneliness and sensation-sensitivity behaviors were predictive of the psychological health domain. Comorbid psychiatric disorders and loneliness were predictive of the social relationship domain. CONCLUSIONS: Adults with autism spectrum disorder need more supportive social contexts and interventions to improve their quality of life. Social relationships, psychological health, and sensory processing difficulty must be considered when designing treatment programs for adults with autism spectrum disorder. Implications for Rehabilitation Adults with autism spectrum disorder scored significantly lower in all domains of quality of life than did the neuro-typical adults. Occupational therapy can provide more supportive social contexts and interventions on social relationship and sensory processing difficulty to improve their quality of life. Understanding factors associated with quality of life among adults with autism spectrum disorder can contribute to address their needs. Occupational therapy can facilitate health promotion through working with adults with autism spectrum disorder. Social relationships, psychological health, and sensory processing difficulty must be considered when designing treatment programs for adults with autism spectrum disorder.
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11. Ng Ph DR, Bellugi Ed DU, Trauner Md D. {{Associations Between Social Functioning, ADHD Symptomatology, and Emotion Functioning in Children With Autism Spectrum Disorder and Williams Syndrome}}. {Pediatr Neurol};2017 (Nov 6)
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12. Wadsworth HM, Maximo JO, Donnelly RJ, Kana RK. {{Action simulation and mirroring in children with autism spectrum disorders}}. {Behav Brain Res};2017 (Dec 13);341:1-8.
Mental imitation, perhaps a precursor to motor imitation, involves visual perspective-taking and motor imagery. Research on mental imitation in autism spectrum disorders (ASD) has been rather limited compared to that on motor imitation. The main objective of this fMRI study is to determine the differences in brain responses underlying mirroring and mentalizing networks during mental imitation in children and adolescents with ASD. Thirteen high-functioning children and adolescents with ASD and 15 age-and- IQ-matched typically developing (TD) control participants took part in this fMRI study. In the MRI scanner, participants were shown cartoon pictures of people performing everyday actions (Transitive actions: e.g., ironing clothes but with the hand missing; and Intransitive actions: e.g., clapping hands with the palms missing) and were asked to identify which hand or palm orientation would best fit the gap. The main findings are: 1) both groups performed equally while processing transitive and intransitive actions; 2) both tasks yielded activation in the bilateral inferior frontal gyrus (IFG) and inferior parietal lobule (IPL) in ASD and TD groups; 3) Increased activation was seen in ASD children, relative to TD, in left ventral premotor and right middle temporal gyrus during intransitive actions; and 4) ASD symptom severity positively correlated with activation in left parietal, right middle temporal, and right premotor regions across all subjects. Overall, our findings suggest that regions mediating mirroring may be recruiting more brain resources in ASD and may have implications for understanding social movement through modeling.