Pubmed du 15/01/20

mercredi 15 janvier 2020

1. Corrigendum to Differences in food consumption and nutritional intake between children with autism spectrum disorders and typically developing children : A meta-analysis. Autism ;2020 (Jan 13):1362361319898028.

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2. Alshammari MA, Khan MR, Alasmari F, Alshehri AO, Ali R, Boudjelal M, Alhosaini KA, Niazy AA, Alshammari TK. Changes in the Fluorescence Tracking of NaV1.6 Protein Expression in a BTBR T+Itpr3tf/J Autistic Mouse Model. Neural Plast ;2019 ;2019:4893103.

The axon initial segment (AIS), the site of action potential initiation in neurons, is a critical determinant of neuronal excitability. Growing evidence indicates that appropriate recruitment of the AIS macrocomplex is essential for synchronized firing. However, disruption of the AIS structure is linked to the etiology of multiple disorders, including autism spectrum disorder (ASD), a condition characterized by deficits in social communication, stereotyped behaviors, and very limited interests. To date, a complete understanding of the molecular components that underlie the AIS in ASD has remained elusive. In this research, we examined the AIS structure in a BTBR T+Itpr3tf/J mouse model (BTBR), a valid model that exhibits behavioral, electrical, and molecular features of autism, and compared this to the C57BL/6J wild-type control mouse. Using Western blot studies and high-resolution confocal microscopy in the prefrontal frontal cortex (PFC), our data indicate disrupted expression of different isoforms of the voltage-gated sodium channels (NaV) at the AIS, whereas other components of AIS such as ankyrin-G and fibroblast growth factor 14 (FGF14) and contactin-associated protein 1 (Caspr) in BTBR were comparable to those in wild-type control mice. A Western blot assay showed that BTBR mice exhibited a marked increase in different sodium channel isoforms in the PFC compared to wild-type mice. Our results provide potential evidence for previously undescribed mechanisms that may play a role in the pathogenesis of autistic-like phenotypes in BTBR mice.

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3. Dawson G, Campbell K, Hashemi J, Lippmann SJ, Smith V, Carpenter K, Egger H, Espinosa S, Vermeer S, Baker J, Sapiro G. Author Correction : Atypical postural control can be detected via computer vision analysis in toddlers with autism spectrum disorder. Sci Rep ;2020 (Jan 14) ;10(1):616.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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4. Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, Bearden CE. Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric Disorders. Biol Psychiatry ;2020 (Jan 15) ;87(2):150-163.

BACKGROUND : 22q11.2 copy number variants are among the most highly penetrant genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD). However, the specific mechanisms through which they confer risk remain unclear. METHODS : Using a functional genomics approach, we integrated transcriptomic data from the developing human brain, genome-wide association findings for SCZ and ASD, protein interaction data, and gene expression signatures from SCZ and ASD postmortem cortex to 1) organize genes into the developmental cellular and molecular systems within which they operate, 2) identify neurodevelopmental processes associated with polygenic risk for SCZ and ASD across the allelic frequency spectrum, and 3) elucidate pathways and individual genes through which 22q11.2 copy number variants may confer risk for each disorder. RESULTS : Polygenic risk for SCZ and ASD converged on partially overlapping neurodevelopmental modules involved in synaptic function and transcriptional regulation, with ASD risk variants additionally enriched for modules involved in neuronal differentiation during fetal development. The 22q11.2 locus formed a large protein network during development that disproportionately affected SCZ-associated and ASD-associated neurodevelopmental modules, including loading highly onto synaptic and gene regulatory pathways. SEPT5, PI4KA, and SNAP29 genes are candidate drivers of 22q11.2 synaptic pathology relevant to SCZ and ASD, and DGCR8 and HIRA are candidate drivers of disease-relevant alterations in gene regulation. CONCLUSIONS : This approach offers a powerful framework to identify neurodevelopmental processes affected by diverse risk variants for SCZ and ASD and elucidate mechanisms through which highly penetrant, multigene copy number variants contribute to disease risk.

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5. Jaworska N. Looking at the Big Neurochemical Picture of Autism Spectrum Disorder. Biol Psychiatry ;2020 (Jan 15) ;87(2):e5-e6.

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6. Kim J, Stevens P, Carbone PS, Jones KB. Health Care Use and Spending of Pediatric Patients With an Intellectual or Developmental Disability. Med Care ;2020 (Jan 13)

BACKGROUND : Health care costs and utilization for those with an intellectual or developmental disability (IDD) have been shown to be higher than the general population. OBJECTIVE : To investigate the services that contribute to higher costs and utilization among noninstitutionalized children with an IDD. DESIGN : Matched case-control secondary analysis of the 2000-2017 Medical Expenditure Panel Survey. Pediatric (age 0-21) patients with an IDD were matched to non-IDD subjects. Health care utilization and costs were evaluated with zero-inflated negative binomial regressions and generalized linear models, respectively. MEASURES : Outcome measures included high-acuity health care utilization [ie, emergency department (ED) visits and hospital admissions], and cost outcomes for total spending, ED use, hospitalization, medications, office visits, home health, and physical therapy. RESULTS : There was no statistical difference in utilization of EDs among the 2 groups though subjects with an IDD showed more hospitalizations than their matched cohort (incidence rate ratios=1.63, P=0.00). Total health care spending was higher among patients with an IDD (coefficient=$5831, P=0.00). Pediatric spending was higher in all measures except for ED. The biggest discrepancies in spending were seen in home health (coefficient=$2558, P=0.00) and outpatient visits (coefficient=$1180, P=0.00). CONCLUSIONS : Pediatric patients with an IDD had higher health care spending and utilization than non-IDD subjects in all categories except for ED use.

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7. Lam PP, Du R, Peng S, McGrath CP, Yiu CK. Oral health status of children and adolescents with autism spectrum disorder : A systematic review of case-control studies and meta-analysis. Autism ;2020 (Jan 13):1362361319877337.

LAY ABSTRACT : Children and adolescents diagnosed with Autism Spectrum Disorder (ASD) are thought to be more vulnerable to oral diseases than typically-developing individuals. This is due to their increased barriers to dental care services, self-harm behaviors and dietary habits that may favor tooth decay. In this review, we summarized the current evidence comparing the oral health status of children and adolescents diagnosed with and without ASD. After a systematic search in the literature, we found that the salivary pH of individuals diagnosed with ASD was significantly lower, but the results were not clinically significant that can increase their risks to tooth decay. We also found weak evidence suggesting a higher percentage of children and adolescents diagnosed with ASD having the habit of tooth grinding compared with their neurotypical counterparts. When comparing salivary flow rate, tooth decay, gum diseases, tooth malalignment and tooth trauma ; no significant differences were found between the two groups. The findings did not suggest ASD as a predisposing factor to oral diseases : other factors including sugary diet and inadequate oral hygiene may play a more important role. We also call for further research to establish more concrete association between ASD and oral diseases.

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8. Oie MG, Andersen PN, Hovik KT, Skogli EW, Rund BR. Similar impairments shown on a neuropsychological test battery in adolescents with high-functioning autism and early onset schizophrenia : a two-year follow-up study. Cogn Neuropsychiatry ;2020 (Jan 14):1-16.

Introduction : Cognitive impairments are common in both Autism Spectrum Disorders (ASD) and schizophrenia, but it is unclear whether the pattern of difficulties is similar or different in the two disorders. This cross-sectional and longitudinal study compared the neuropsychological functioning in adolescents with ASD with adolescents with Early Onset Schizophrenia (EOS).Methods : At baseline and at two-year follow-up, participants were assessed with a brief neuropsychological test battery measuring executive functions, visual and verbal learning, delayed recall and recognition and psychomotor speed.Results : We found similar levels of neuropsychological impairment across groups and over time in the adolescents with ASD or EOS. Adolescents in both groups did not improve significantly on verbal learning, verbal delayed recall, visual learning, visual delayed recall or visual delayed recognition, and both groups performed poorer on verbal recognition. Both groups improved on measures of psychomotor processing and executive functions.Conclusion : The findings suggest that it may be difficult to differentiate adolescents with EOS and ASD based on neuropsychological task performance. An implication of the results is that adolescents with either disorder may benefit from a similar approach to the treatment of cognitive impairment in the disorders.

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9. O’Neill J, Bansal R, Goh S, Rodie M, Sawardekar S, Peterson BS. Parsing the Heterogeneity of Brain Metabolic Disturbances in Autism Spectrum Disorder. Biol Psychiatry ;2020 (Jan 15) ;87(2):174-184.

BACKGROUND : Despite rising prevalence of autism spectrum disorder (ASD), its brain bases remain uncertain. Abnormal levels of N-acetyl compounds, glutamate+glutamine, creatine+phosphocreatine, or choline compounds measured by proton magnetic resonance spectroscopy suggest that neuron or glial density, mitochondrial energetic metabolism, and/or inflammation contribute to ASD neuropathology. The neuroanatomic distribution of these metabolites could help evaluate leading theories of ASD. However, most prior magnetic resonance spectroscopy studies had small samples (all <60, most <20), interrogated only a small fraction of the brain, and avoided assessing effects of age, sex, and IQ. METHODS : We acquired near-whole-brain magnetic resonance spectroscopy of N-acetyl compounds, glutamate+glutamine, creatine+phosphocreatine, and choline compounds in 78 children and adults with ASD and 96 typically developing children and adults, rigorously evaluating effects of diagnosis and severity on metabolites, as moderated by age, sex, and IQ. RESULTS : Effects of ASD and its severity included reduced levels of multiple metabolites in white matter and the perisylvian cortex and elevated levels in the posterior cingulate, consistent with white matter and social-brain theories of ASD. Regionally, both slower and faster decreases of metabolites with age were observed in ASD versus TD. Male-female metabolite differences were widely smaller in ASD than typically developing children and adults. ASD-specific decreases in metabolites with decreasing IQ occurred in several brain areas. CONCLUSIONS : Results support multifocal abnormal neuron or glial density, mitochondrial energetics, or neuroinflammation in ASD, alongside widespread starkly atypical moderating effects of age, sex, and IQ. These findings help parse the neurometabolic signature for ASD by phenotypic heterogeneity.

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10. Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D’Abate L, Rodrigues DC, Yuen RKC, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, Varga B, Salter MW, Scherer SW, Ellis J. Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. Biol Psychiatry ;2020 (Jan 15) ;87(2):139-149.

BACKGROUND : The Xp22.11 locus that encompasses PTCHD1, DDX53, and the long noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum disorder (ASD), but the functional consequences of these genetic risk factors for ASD are unknown. METHODS : To evaluate the functional consequences of PTCHD1 locus deletions, we generated induced pluripotent stem cells (iPSCs) from unaffected control subjects and 3 subjects with ASD with microdeletions affecting PTCHD1-AS/PTCHD1, PTCHD1-AS/DDX53, or PTCHD1-AS alone. Function of iPSC-derived cortical neurons was assessed using molecular approaches and electrophysiology. We also compiled novel and known genetic variants of the PTCHD1 locus to explore the roles of PTCHD1 and PTCHD1-AS in genetic risk for ASD and other neurodevelopmental disorders. Finally, genome editing was used to explore the functional consequences of deleting a single conserved exon of PTCHD1-AS. RESULTS : iPSC-derived neurons from subjects with ASD exhibited reduced miniature excitatory postsynaptic current frequency and N-methyl-D-aspartate receptor hypofunction. We found that 35 ASD-associated deletions mapping to the PTCHD1 locus disrupted exons of PTCHD1-AS. We also found a novel ASD-associated deletion of PTCHD1-AS exon 3 and showed that exon 3 loss altered PTCHD1-AS splicing without affecting expression of the neighboring PTCHD1 coding gene. Finally, targeted disruption of PTCHD1-AS exon 3 recapitulated diminished miniature excitatory postsynaptic current frequency, supporting a role for the long noncoding RNA in the etiology of ASD. CONCLUSIONS : Our genetic findings provide strong evidence that PTCHD1-AS deletions are risk factors for ASD, and human iPSC-derived neurons implicate these deletions in the neurophysiology of excitatory synapses and in ASD-associated synaptic impairment.

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11. Roy N, Ghaziuddin M, Mohiuddin S. Consanguinity and Autism. Curr Psychiatry Rep ;2020 (Jan 13) ;22(1):3.

PURPOSE OF REVIEW : Consanguinity can increase the risk for autosomal recessive conditions, along with autism spectrum disorder (ASD). Rarely outside of the genetics community is this discussed. Understanding its impact on the development of ASD and increasing awareness for physicians is important. RECENT FINDINGS : ASD is a polygenic multifactorial disorder associated with morbidity and burden of care. Studies have confirmed its heritability, suspecting to an autosomal recessive transmission. Consanguinity increases the risk for uncovering recessive disorder and its role as an independent contributor for the development of ASD should be examined. With consanguinity being a known risk factor for autosomal recessive conditions, clinicians should routinely screen for it when evaluating for ASD, as this is inconsistently done. If suspected, genetic testing should be also recommended. Understanding current risk as well as future risk and providing families with the education to make the most informed decisions is necessary.

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12. Serdarevic F, Tiemeier H, Jansen PR, Alemany S, Xerxa Y, Neumann A, Robinson E, Hillegers MHJ, Verhulst FC, Ghassabian A. Polygenic Risk Scores for Developmental Disorders, Neuromotor Functioning During Infancy, and Autistic Traits in Childhood. Biol Psychiatry ;2020 (Jan 15) ;87(2):132-138.

BACKGROUND : Impaired neuromotor development is often one of the earliest observations in children with autism spectrum disorder (ASD). We investigated whether a genetic predisposition to developmental disorders was associated with nonoptimal neuromotor development during infancy and examined the genetic correlation between nonoptimal neuromotor development and autistic traits in the general population. METHODS : In a population-based cohort in The Netherlands (2002-2006), we calculated polygenic risk scores (PRSs) for ASD and attention-deficit/hyperactivity disorder (ADHD) using genome-wide association study summary statistics. In 1921 children with genetic data, parents rated autistic traits at 6 years of age. Among them, 1174 children (61.1%) underwent neuromotor examinations (tone, responses, senses, and other observations) during infancy (9-20 weeks of age). We used linear regressions to examine associations of PRSs with neuromotor scores and autistic traits. We performed a bivariate genome-based restricted maximum likelihood analysis to explore whether genetic susceptibility underlies the association between neuromotor development and autistic traits. RESULTS : Higher PRSs for ASD were associated with less optimal overall infant neuromotor development, in particular low muscle tone. Higher PRSs for ADHD were associated with less optimal senses. PRSs for ASD and those for ADHD both were associated with autistic traits. The single nucleotide polymorphism-based heritability of overall motor development was 20% (SE = .21) and of autistic traits was 68% (SE = .26). The genetic correlation between overall motor development and autistic traits was .35 (SE = .21, p < .001). CONCLUSIONS : We found that genetic liabilities for ASD and ADHD covary with neuromotor development during infancy. Shared genetic liability might partly explain the association between nonoptimal neuromotor development during infancy and autistic traits in childhood.

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13. Sevgi M, Diaconescu AO, Henco L, Tittgemeyer M, Schilbach L. Social Bayes : Using Bayesian Modeling to Study Autistic Trait-Related Differences in Social Cognition. Biol Psychiatry ;2020 (Jan 15) ;87(2):185-193.

BACKGROUND : The autistic spectrum is characterized by profound impairments of social interaction. The exact subpersonal processes, however, that underlie the observable lack of social reciprocity are still a matter of substantial controversy. Recently, it has been suggested that the autistic spectrum might be characterized by alterations of the brain’s inference about the causes of socially relevant sensory signals. METHODS : We used a novel reward-based learning task that required integration of nonsocial and social cues in conjunction with computational modeling. Thirty-six healthy subjects were selected based on their score on the Autism-Spectrum Quotient (AQ), and AQ scores were assessed for correlations with cue-related model parameters and task scores. RESULTS : Individual differences in AQ scores were significantly correlated with participants’ total task scores, with high AQ scorers performing more poorly in the task (r = -.39, 95% confidence interval = -0.68 to -0.13). Computational modeling of the behavioral data unmasked a learning deficit in high AQ scorers, namely, the failure to integrate social context to adapt one’s belief precision-the precision afforded to prior beliefs about changing states in the world-particularly in relation to the nonsocial cue. CONCLUSIONS : More pronounced autistic traits in a group of healthy control subjects were related to lower scores associated with misintegration of the social cue. Computational modeling further demonstrated that these trait-related performance differences are not explained by an inability to process the social stimuli and their causes, but rather by the extent to which participants consider social information to infer the nonsocial cue.

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