1. Basheer S, Natarajan A, van Amelsvoort T, Venkataswamy MM, Ravi V, Srinath S, Girimaji SC, Christopher R. {{Vitamin D status of children with Autism Spectrum Disorder: Case-control study from India}}. {Asian J Psychiatr}. 2017; 30: 200-1.
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2. Zhang K, Li YJ, Guo Y, Zheng KY, Yang Q, Yang L, Wang XS, Song Q, Chen T, Zhuo M, Zhao MG. {{Elevated progranulin contributes to synaptic and learning deficit due to loss of fragile X mental retardation protein}}. {Brain}. 2017.
Fragile X syndrome is an inheritable form of intellectual disability caused by loss of fragile X mental retardation protein (FMRP, encoded by the FMR1 gene). Absence of FMRP caused overexpression of progranulin (PGRN, encoded by GRN), a putative tumour necrosis factor receptor ligand. In the present study, we found that progranulin mRNA and protein were upregulated in the medial prefrontal cortex of Fmr1 knock-out mice. In Fmr1 knock-out mice, elevated progranulin caused insufficient dendritic spine pruning and late-phase long-term potentiation in the medial prefrontal cortex of Fmr1 knock-out mice. Partial progranulin knock-down restored spine morphology and reversed behavioural deficits, including impaired fear memory, hyperactivity, and motor inflexibility in Fmr1 knock-out mice. Progranulin increased levels of phosphorylated glutamate ionotropic receptor GluA1 and nuclear factor kappa B in cultured wild-type neurons. Tumour necrosis factor receptor 2 antibody perfusion blocked the effects of progranulin on GluA1 phosphorylation; this result indicates that tumour necrosis factor receptor 2 is required for progranulin-mediated GluA1 phosphorylation and late-phase long-term potentiation expression. However, high basal level of progranulin in Fmr1 knock-out mice prevented further facilitation of synaptic plasticity by exogenous progranulin. Partial downregulation of progranulin or tumour necrosis factor receptor 2/nuclear factor kappa B signalling restored synaptic plasticity and memory deficits in Fmr1 knock-out mice. These findings suggest that elevated PGRN is linked to cognitive deficits of fragile X syndrome, and the progranulin/tumour necrosis factor receptor 2 signalling pathway may be a putative therapeutic target for improving cognitive deficits in fragile X syndrome.
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3. Hoem G, Koht J. {{Fragile X-associated tremor/ataxia syndrome}}. {Tidsskr Nor Laegeforen}. 2017; 137(20).
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4. Russell G, Starr S, Elphick C, Rodogno R, Singh I. {{Selective patient and public involvement: The promise and perils of pharmaceutical intervention for autism}}. {Health Expect}. 2017.
BACKGROUND: Guidelines suggest the patient community should be consulted from the outset when designing and implementing basic biomedical research, but such patient communities may include conflicting views. We examined how engagement occurred in one such instance. OBJECTIVE: Our objective was to scrutinize patient and public involvement (PPI) by a pan-European biomedical consortium working to develop drugs to treat autism. We aimed to use this as an example to illustrate how PPI has been utilized in biomedical research. SETTING, PARTICIPANTS AND ANALYSIS: Two public events, one in the UK and one in Denmark were conducted as part of the consortium’s on-going PPI activities in 2014 and 2015. Sixty-six individuals submitted written comments on the consortium’s research after these events. The textual data produced were analysed using a thematic approach. Approximately 71% of respondents reported themselves to be adults on the autism spectrum or parents of children with autism. RESULTS: The themes identified illustrated major differences between some community concerns and the biomedical research agenda. While treating autism per se. was seen as problematic by some, treating specific co-occurring problems was seen as helpful in some circumstances. The biomedical consortium selected PPI with a limited user viewpoint at its outset and more widely once basic research was on-going. DISCUSSION: This case illustrates what we term « selective PPI » where only a sympathetic and/or limited patient viewpoint is included. Findings highlight the perils of using selective PPI to legitimise scientific endeavours, and the possibilities for constructive dialogue.
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5. DePriest J, Glushko A, Steinhauer K, Koelsch S. {{Language and music phrase boundary processing in Autism Spectrum Disorder: An ERP study}}. {Sci Rep}. 2017; 7(1): 14465.
Autism spectrum disorder (ASD) is frequently associated with communicative impairment, regardless of intelligence level or mental age. Impairment of prosodic processing in particular is a common feature of ASD. Despite extensive overlap in neural resources involved in prosody and music processing, music perception seems to be spared in this population. The present study is the first to investigate prosodic phrasing in ASD in both language and music, combining event-related brain potential (ERP) and behavioral methods. We tested phrase boundary processing in language and music in neuro-typical adults and high-functioning individuals with ASD. We targeted an ERP response associated with phrase boundary processing in both language and music – i.e., the Closure Positive Shift (CPS). While a language-CPS was observed in the neuro-typical group, for ASD participants a smaller response failed to reach statistical significance. In music, we found a boundary-onset music-CPS for both groups during pauses between musical phrases. Our results support the view of preserved processing of musical cues in ASD individuals, with a corresponding prosodic impairment. This suggests that, despite the existence of a domain-general processing mechanism (the CPS), key differences in the integration of features of language and music may lead to the prosodic impairment in ASD.
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6. Lewis A, Rudd CJ, Mills B. {{Working with children with autism: an interprofessional simulation-based tutorial for speech pathology and occupational therapy students}}. {J Interprof Care}. 2017: 1-3.
There is an increasing need to include interprofessional experiences in undergraduate health education. Simulation is one methodology revered as being able to facilitate interprofessional learning opportunities in a safe, structured environment. This project aimed to develop, trial and evaluate an interprofessional simulation role-play tutorial utilising DVD resources. In total, 70 speech pathology students and 76 occupational therapy students participated in a role-play involving DVD footage and documentation to facilitate assessment planning and analysis of assessment data for a child with autism. Questionnaires asked participants to rate their perceived experiences across 13 items using a 5-point Likert scale, as well as three open-ended questions. The results revealed positive reactions to the role-play and suggested that students felt that the learning objectives had been met. Many students expressed interest in engaging in further interprofessional learning experiences. Taken in conjunction with other similar studies, interprofessional simulation-based workshops using DVD footage may provide a manageable alternative to traditional interprofessional learning modalities, in particular when incorporating clients with complex and developmental disabilities.
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7. Miron O, Beam AL, Kohane IS. {{Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V}}. {Autism Res}. 2017.
Infants with autism spectrum disorder (ASD) were recently found to have prolonged auditory brainstem response (ABR); however, at older ages, findings are contradictory. We compared ABR differences between participants with ASD and controls with respect to age using a meta-analysis. Data sources included MEDLINE, EMBASE, Web of Science, Google Scholar, HOLLIS, and ScienceDirect from their inception to June 2016. The 25 studies that were included had a total of 1349 participants (727 participants with ASD and 622 controls) and an age range of 0-40 years. Prolongation of the absolute latency of wave V in ASD had a significant negative correlation with age (R2 = 0.23; P = 0.01). The 22 studies below age 18 years showed a significantly prolonged wave V in ASD (Standard Mean Difference = 0.6 [95% CI, 0.5-0.8]; P < 0.001). The 3 studies above 18 years of age showed a significantly shorter wave V in ASD (SMD = -0.6 [95% CI, -1.0 to -0.2]; P = 0.004). Prolonged ABR was consistent in infants and children with ASD, suggesting it can serve as an ASD biomarker at infancy. As the ABR is routinely used to screen infants for hearing impairment, the opportunity for replication studies is extensive. Autism Res 2017. (c) 2017 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Our analysis of previous studies showed that infants and children with autism spectrum disorder (ASD) have a slower brain response to sound, while adults have a faster brain response to sound. This suggests that slower brain response in infants may predict ASD risk. Brain response to sound is routinely tested on newborns to screen hearing impairment, which has created large data sets to afford replication of these results. Lien vers le texte intégral (Open Access ou abonnement)
8. Mattys L, Noens I, Evers K, Baeyens D. {{« Hold Me Tight So I Can Go It Alone »: Developmental Themes for Young Adults With Autism Spectrum Disorder}}. {Qual Health Res}. 2017: 1049732317730329.
Although research shows that young adults with autism spectrum disorder (ASD) struggle with higher rates of depression, anxiety, and other co-occurring psychiatric disorders, their psychological development through emerging adulthood remains understudied. To explore relevant developmental themes for young adults with ASD while subscribing to a social-constructionist epistemology, we interviewed young adults with ASD and their mental health care professionals individually, and organized focus groups with their parents in a multiperspective design. Developmental themes were identified using interpretative phenomenological analysis. Despite a substantial body of research considering lack of social motivation, a central ASD characteristic, narratives were remarkably socially oriented. This article discusses the overarching themes of (a) searching for balance and negotiating ASD and (b) searching for suitable surroundings in different areas of life, as well as their implications for clinical practice.
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9. Postorino V, Kerns CM, Vivanti G, Bradshaw J, Siracusano M, Mazzone L. {{Anxiety Disorders and Obsessive-Compulsive Disorder in Individuals with Autism Spectrum Disorder}}. {Curr Psychiatry Rep}. 2017; 19(12): 92.
PURPOSE OF REVIEW: This review aims to synthesize the most recent research on anxiety disorders and obsessive-compulsive disorder (OCD) in individuals with autism spectrum disorder (ASD) and discuss the relationship between these conditions and challenges for assessment. Furthermore, implications for treatment and future directions are discussed. RECENT FINDINGS: Research suggests that anxiety disorders and OCD are highly prevalent in individuals with ASD. However, the significant overlap of ASD features with anxiety and OCD symptomology makes differential diagnosis of these disorders particularly challenging. Though several treatments for anxiety have been adapted for youth with ASD (e.g., cognitive behavior therapy), pharmacological treatments and treatments for adults are still marked undeveloped. Despite the high prevalence of anxiety disorders and OCD in ASD and some recent advances in assessment and treatment, research is needed to clarify the multifaceted relationship of these conditions and develop tailored assessment and treatment approaches appropriate for a full range of individuals with ASD.
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10. Reynolds KC, Patriquin M, Alfano CA, Loveland KA, Pearson DA. {{Parent-Reported Problematic Sleep Behaviors in Children with Comorbid Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder}}. {Res Autism Spectr Disord}. 2017; 39: 20-32.
BACKGROUND: Sleep problems are frequent and well documented in children with Autism Spectrum Disorders (ASD), children with Attention Deficit/Hyperactivity Disorder (ADHD) and children with internalizing problems, however limited work has examined sleep problems in children presenting with comorbid ASD/ADHD. In healthy children, sleep problems negatively impact social, emotional, and academic functioning. The current study sought to examine diagnostic severity as predictors of sleep problems in children with comorbid ASD/ADHD. Additionally, the association between sleep and « real-life » functional domains (i.e., intellectual functioning, academic achievement, and executive functioning) were assessed. METHOD: Sleep, internalizing difficulties, intellectual functioning, academic achievement and executive functioning were assessed in 85 children with who carried the dual diagnoses of ASD and ADHD. RESULTS: Internalizing difficulties, rather than ASD or ADHD symptom severity, was the most consistent predictor of problematic sleep behaviors (i.e., nightmares overtiredness, sleeping less than other children, trouble sleeping, and Total Problematic Sleep Behaviors) in this sample. Further, parent report of problematic sleep behaviors was significantly associated with functional domains after controlling for ASD, ADHD, and internalizing symptoms. CONCLUSIONS: Results suggest that internalizing symptoms are associated with problematic sleep behaviors in children with comorbid ASD/ADHD and may have implications for the « real-life » functioning among children with comorbid ASD/ADHD.
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11. Yingling ME, Hock RM, Bell BA. {{Time-Lag Between Diagnosis of Autism Spectrum Disorder and Onset of Publicly-Funded Early Intensive Behavioral Intervention: Do Race-Ethnicity and Neighborhood Matter?}}. {J Autism Dev Disord}. 2017.
Health coverage of early intensive behavioral intervention (EIBI) for children with autism spectrum disorder (ASD) is rapidly expanding across the United States. Yet we know little about the time-lag between diagnosis and treatment onset. We integrated administrative, Medicaid claims, and Census data for children in an EIBI Medicaid waiver (n = 473) to examine the relationship between time-lag and (a) child race-ethnicity and (b) neighborhood racial composition, poverty, affluence, and urbanicity. We explored whether the relationship between child race-ethnicity and time-lag varies by neighborhood characteristics. Average time-lag between diagnosis and treatment onset was nearly 3 years. Child race-ethnicity and neighborhood characteristics did not predict time-lag. Reducing time-lag is critical to ensuring that children with ASD receive treatment as early as possible.
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12. Usher LV, Burrows CA, Messinger DS, Henderson HA. {{Metaperception in Adolescents With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
This study compared how adolescents with and without autism spectrum disorder (ASD) evaluated unfamiliar peers (i.e., perceptions), as well as how adolescents believed they were evaluated by peers (i.e., metaperceptions). The Perceptions and Metaperceptions Questionnaire was designed to quantify perceptions and metaperceptions following a live interaction. For all adolescents, more positive perceptions of the peer were associated with more positive metaperceptions. Adolescents with ASD exhibited more accurate metaperceptions than did typically developing adolescents. More positive perceptions and metaperceptions were associated with higher levels of observed social competence across groups. Findings extend our understanding of typically and atypically developing adolescents’ impressions of unfamiliar peers and their ability to discern what peers think of them.
