Pubmed du 05/06/19

mercredi 5 juin 2019

1. Bergmann T, Heinrich M, Ziegler M, Dziobek I, Diefenbacher A, Sappok T. Developing a Diagnostic Algorithm for the Music-Based Scale for Autism Diagnostics (MUSAD) Assessing Adults with Intellectual Disability. J Autism Dev Disord. 2019.

Initial studies have presented the Music-based Scale for Autism Diagnostics (MUSAD) as a promising DSM-5-based observational tool to identify autism spectrum disorder (ASD) in adults with intellectual disability (ID). The current study is the first to address its clinical utility in a new sample of 124 adults with ID (60.5% diagnosed with ASD). The derived diagnostic algorithm differentiated well between individuals with and without ASD (sensitivity 79%, specificity 74%, area under the curve = 0.81). Inter-rater reliability, assessed by the scorings of four independent experts in 22 consensus cases, was excellent (ICC = 0.92). Substantial correlations with scores from other ASD-specific measures indicated convergent validity. The MUSAD yields accurate and reliable scores, supporting comprehensive ASD diagnostics in adults with ID.

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2. Dean DD, Agarwal S, Muthuswamy S. Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenario. Expert Rev Mol Diagn. 2019 : 1-9.

Background : Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM), >200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene. Early identification of FXS has prognostic significance for affected individuals due to early initiation of interventions. Genetic counseling and family screening can aid parents and at-risk asymptomatic carriers (premutation (PM), 55-200 CGG) in taking proper reproductive decisions. Methodology : The present study utilizes Triplet Primed-Polymerase Chain Reaction (TP-PCR) methodology for detecting the repeat expansion at FMR1 gene in 233 Indian intellectual disability/developmental delay (ID/DD) patients. Results : We have identified 18/233 (7.7%) FXS positive cases. Early diagnosis was made in 66.7% cases (<10 years). Extended family screening in 14 affected individuals identified 9 additional FM cases (7 males and 2 females) and 23 carrier PM females, which otherwise could have been missed. Four prenatal diagnoses were also performed, leading to the identification of 1 PM and 1 FM carrier fetus. Conclusion : A high frequency (7.7%) of FXS among Indian ID/DD subjects obtained in this study depicted the need for more professional recommendations concerning prompt referral for genetic testing, and increased exposure to information about FXS to pediatricians.

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3. Kuo SS, Wojtalik JA, Mesholam-Gately RI, Keshavan MS, Eack SM. Establishing a standard emotion processing battery for treatment evaluation in adults with autism spectrum disorder : Evidence supporting the Mayer-Salovey-Caruso Emotion Intelligence Test (MSCEIT). Psychiatry Res. 2019 ; 278 : 116-24.

Autism spectrum disorder (ASD) and schizophrenia are neurodevelopmental disorders which show markedly similar deficits in emotion processing, yet treatment evaluation in ASD and treatment comparisons across ASD and schizophrenia are constrained by a lack of empirical work validating a standard emotion processing battery across ASD and schizophrenia. Encouragingly, the Mayer-Salovey-Caruso Emotion Intelligence Test, version 2.0 (MSCEIT (Mayer et al., 2003) spans the range of emotion processing deficits in schizophrenia and ASD. This study therefore aimed to establish MSCEIT’s factorial, measurement, and structural invariance in community-residing adults with schizophrenia (N=103) and ASD (N=113) using multigroup confirmatory factor analysis. Consistent with prior studies in normative populations, a two-factor structure comprised of emotional experiencing and emotional reasoning was supported in ASD and schizophrenia. Both groups operationalize MSCEIT measures similarly, with all measures except for Facilitation and Management showing comparability across groups. To our knowledge, this study is not only the first to establish the measurement and structural invariance of a standard emotion perception battery in adults with ASD, it is also the first to establish its comparability across ASD and schizophrenia. Ultimately, these findings underscore MSCEIT’s utility for standardizing treatment evaluation of social cognitive outcomes across the autism-schizophrenia spectrum.

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4. Marsden REF, Francis J, Garner I. Use of GFCF Diets in Children with ASD. An Investigation into Parents’ Beliefs Using the Theory of Planned Behaviour. J Autism Dev Disord. 2019.

Gluten free/Casein free (GFCF) diets are one of the most common types of Complementary and Alternative Medicines (CAM) used in Autism Spectrum Disorders (ASD) despite little evidence to support positive effects. There has been no theory driven literature that has investigated parent’s reasons for their use. The Theory of Planned Behaviour (TPB) was used to examine parent’s intentions to use GFCF diets for their child with an ASD. Treatment and causal beliefs were also examined. Parents (n = 33, children aged 3-17 years) were influenced by anticipated regret, positive outcomes and attitude. Future interventions should provide information to parents and health professionals about the possible causes of ASD and therapy options which are in line with current recommendations.

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5. Mulcahy JS, Davies M, Quadt L, Critchley HD, Garfinkel SN. Interoceptive awareness mitigates deficits in emotional prosody recognition in Autism. Biological psychology. 2019.

The sensing of internal bodily signals, a process known as interoception, contributes to subjective emotional feeling states that can guide empathic understanding of the emotions of others. Individuals with Autism Spectrum Conditions (ASC) typically show an attenuated intuitive capacity to recognise and interpret other peoples’ emotional signals. Here we test directly if differences in interoceptive processing relate to the ability to perceive emotional signals from the intonation of speech (affective prosody) in ASC adults. We employed a novel prosody paradigm to compare emotional prosody recognition in ASC individuals and a group of neurotypical controls. Then, in a larger group of ASC individuals, we tested how recognition of affective prosody related to objective, subjective and metacognitive (awareness) psychological dimensions of interoception. ASC individuals showed reduced recognition of affective prosody compared to controls. Deficits in performance on the prosody task were mitigated by greater interoceptive awareness, so that ASC individuals were better able to judge the prosodic emotion if they had better insight into their own interoceptive abilities. This data links the ability to access interoceptive representations consciously to the recognition of emotional expression in others, suggesting a crossmodal target for interventions to enhance interpersonal skills.

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6. Palmer M, San Jose Caceres A, Tarver J, Howlin P, Slonims V, Pellicano E, Charman T. Feasibility study of the National Autistic Society EarlyBird parent support programme. Autism. 2019 : 1362361319851422.

The EarlyBird programme is a group-based psychoeducation intervention for parents of young children with autism. Although it is widely used in the United Kingdom, the evidence base for the programme is very limited. Using a mixed method, non-randomised research design, we aimed to test (1) the acceptability of the research procedures (recruitment, retention, suitability of measures), (2) the parental acceptability of EarlyBird (attendance, views of the programme, perceived changes) and (3) the facilitator acceptability of EarlyBird (fidelity, views of the programme, perceived changes). Seventeen families with a 2- to 5-year-old autistic child and 10 EarlyBird facilitators took part. Pre- and post-intervention assessment included measures of the child’s autism characteristics, cognitive ability, adaptive behaviour, emotional and behavioural problems and parent-reported autism knowledge, parenting competence, stress and wellbeing. Semi-structured interviews were completed at post-intervention with parents and facilitators. For those involved in the study, the research procedures were generally acceptable, retention rates were high and the research protocol was administered as planned. Generally, positive views of the intervention were expressed by parents and facilitators. Although the uncontrolled, within-participant design does not allow us to test for efficacy, change in several outcome measures from pre- to post-intervention was in the expected direction. Difficulties were encountered with recruitment (opt-in to the groups was 56% and opt-in to the research was 63%), and strategies to enhance recruitment need to be built into any future trial. These findings should be used to inform protocols for pragmatic, controlled trials of EarlyBird and other group-based interventions for parents with young autistic children.

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7. Pincus SM, Hausman NL, Borrero JC, Kahng S. Context influences preference for and level of physical activity of adolescents with intellectual and developmental disabilities. Journal of applied behavior analysis. 2019.

The purpose of the current study was to replicate and extend Hustyi, Normand, Larson, and Morley (2012) by determining the effects of different contexts on physical activity displayed by adolescents with intellectual and developmental disabilities, and determining preference for various activities. Results indicated that an exergaming condition produced the highest levels of activity. Results of a preference assessment indicated that 2 out of 3 participants preferred the physical activity context to the sedentary. For the third participant, an intervention was included to increase activity. Although the intervention was successful, participant preference for the sedentary activity context remained unchanged.

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8. Ross JL, Bloy L, Roberts TPL, Miller J, Xing C, Silverman LA, Zinn AR. Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression. Am J Med Genet B Neuropsychiatr Genet. 2019.

We describe a unique male with a dicentric Y chromosome whose phenotype was compared to that of males with 47,XYY (XYY). The male Y-chromosome aneuploidy XYY is associated with physical, behavioral/cognitive phenotypes, and autism spectrum disorders. We hypothesize that increased risk for these phenotypes is caused by increased copy number/overexpression of Y-encoded genes. Specifically, an extra copy of the neuroligin gene NLGN4Y might elevate the risk of autism in boys with XYY. We present a unique male with the karyotype 46,X,idic(Y)(q11.22), which includes duplication of the Y short arm and proximal long arm and deletion of the distal long arm, evaluated his physical, behavioral/cognitive, and neuroimaging/magnetoencephalography (MEG) phenotypes, and measured blood RNA expression of Y genes. The proband had tall stature and cognitive function within the typical range, without autism features. His blood RNA showed twofold increase in expression of Yp genes versus XY controls, and absent expression of deleted Yq genes, including NLGN4Y. The M100 latencies were similar to findings in typically developing males. In summary, the proband had overexpression of a subset of Yp genes, absent NLGN4Y expression, without ASD findings or XYY-MEG latency findings. These results are consistent with a role for NLGN4Y overexpression in the etiology of behavioral phenotypes associated with XYY. Further investigation of NLGN4Y as an ASD risk gene in XYY is warranted. The genotype and phenotype(s) of this subject may also provide insight into how Y chromosome genes contribute to normal male development and the male predominance in ASD.

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9. Sabatos-DeVito M, Murias M, Dawson G, Howell T, Yuan A, Marsan S, Bernier RA, Brandt CA, Chawarska K, Dzuira JD, Faja S, Jeste SS, Naples A, Nelson CA, Shic F, Sugar CA, Webb SJ, McPartland JC. Methodological considerations in the use of Noldus EthoVision XT video tracking of children with autism in multi-site studies. Biological psychology. 2019.

Animal models of autism spectrum disorders (ASD) contribute to understanding of the role of genetics and the biological mechanisms underlying behavioral phenotypes and inform the development of potential treatments. Translational biomarkers are needed that can both validate these models and facilitate behavioral testing paradigms for ASD in humans. Automated video tracking of movement patterns and positions recorded from overhead cameras is routinely applied in behavioral paradigms designed to elicit core behavioral manifestations of ASD in rodent models. In humans, laboratory-based observations are a common semi-naturalistic context for assessing a variety of behaviors relevant to ASD such as social engagement, play, and attention. We present information learned and suggest guidelines for designing, recording, acquiring, and evaluating video tracking data of human movement patterns based on our experience in a multi-site video tracking study of children with ASD in the context of a parent-child, laboratory-based play interaction.

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10. Schiltz HK, Magnus BE, McVey AJ, Haendel AD, Dolan BK, Stanley RE, Willar KA, Pleiss SJ, Carson AM, Carlson M, Murphy C, Vogt EM, Yund BD, Van Hecke AV. A Psychometric Analysis of the Social Anxiety Scale for Adolescents Among Youth With Autism Spectrum Disorder : Caregiver-Adolescent Agreement, Factor Structure, and Validity. Assessment. 2019 : 1073191119851563.

Social anxiety is common among adolescents with autism spectrum disorder (ASD). An ongoing challenge for both research and clinical practice in ASD is the assessment of anxious symptomatology. Despite its widespread use in samples of youth with ASD, the Social Anxiety Scale for Adolescents (SAS-A) has not received psychometric evaluation within this population ; thus, the validity of its use in research and clinical practice for ASD remains unclear. The present study conducted a psychometric analysis of caregiver and adolescent SAS-A forms in a sample of adolescents with ASD ( N = 197). Results revealed (1) poor caregiver-adolescent item-level agreement, (2) a two-factor structure, (3) lack of measurement invariance between reporters, and (4) modest evidence for convergent and discriminant validity. Overall, findings suggest that this measure demonstrates reasonable psychometric properties in an ASD sample. Lack of measurement invariance, however, calls for careful interpretation of research involving the SAS-A in ASD samples, particularly when the primary goal is to compare adolescent and caregiver reports. The implications of these findings for future research and clinical practice are discussed.

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11. Schuch JB, Paixao-Cortes VR, Longo D, Roman T, Riesgo RDS, Ranzan J, Becker MM, Riegel M, Schuler-Faccini L. Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2019.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, with strong genetic influences as evidenced by its high heritability. Submicroscopic variations (ranging from one kilobase to several megabases) in DNA, called copy number variations (CNVs), have been associated with psychiatric diseases, including ASD. We aimed to identify CNVs in children diagnosed with idiopathic ASD. We used microarray-based comparative genomic hybridization analysis to detect the CNVs, and bioinformatic tools to evaluate their pathogenic potential, based on predicted functional aspects. Using combined cytogenetic and bioinformatic tools, we identified an autism network of genes/proteins related to the CNVs. Among the 40 children analyzed, we found 14 potentially pathogenic CNVs, including those previously associated with ASD (located at 16p11.2, 15q11.2, and 7p21 regions). We suggest that the most relevant biological process and functional attributes involve olfactory receptors. The CNV-related autism network comprised 90 proteins and 754 nodes and indicated the family of olfactory receptors as a significant pathway in ASD. Olfactory receptors were previously associated with neurologic diseases, and they are possibly related to cognition. This integrative analysis that combines cytogenetics and bioinformatics is a promising approach to understand complex conditions such as ASD.

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12. Strenn N, Hovey D, Jonsson L, Anckarsater H, Lundstrom S, Lichtenstein P, Ekman A. Associations between autistic-like traits and polymorphisms in NFKBIL1. Acta neuropsychiatrica. 2019 : 1-10.

OBJECTIVE : The immune system has been suggested to be associated with neuropsychiatric disorders ; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-kappaB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-kappaB protein complex) and NF-kappaB inhibitor-like protein 1 (NFKBIL1). METHODS : The study was conducted in a cohort from the general population : The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9-12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1 : rs2857605, rs2239707, rs2230365 and rs2071592 ; NFKB1 : rs4648022). RESULTS : We found significant associations for two SNPs in NFKBIL1 : rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study. CONCLUSION : The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms.

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