1. Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E. {{An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray}}. {Sci Rep};2020 (Feb 21);10(1):3198.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and heterogeneous genetic etiology. While a proportion of ASD risk is attributable to common variants, rare copy-number variants (CNVs) and protein-disrupting single-nucleotide variants (SNVs) have been shown to significantly contribute to ASD etiology. We analyzed a homogeneous cohort of 127 ASD Italian families genotyped with the Illumina PsychArray, to perform an integrated analysis of CNVs and SNVs and to assess their contribution to ASD risk. We observed a higher burden of rare CNVs, especially deletions, in ASD individuals versus unaffected controls. Furthermore, we identified a significant enrichment of rare CNVs intersecting ASD candidate genes reported in the SFARI database. Family-based analysis of rare SNVs genotyped by the PsychArray also indicated an increased transmission of rare SNV variants from heterozygous parents to probands, supporting a multigenic model of ASD risk with significant contributions of both variant types. Moreover, our study reinforced the evidence for a significant role of VPS13B, WWOX, CNTNAP2, RBFOX1, MACROD2, APBA2, PARK2, GPHN, and RNF113A genes in ASD susceptibility. Finally, we showed that the PsychArray, besides providing useful genotyping data in psychiatric disorders, is a valuable and cost-efficient tool for genic CNV detection, down to 10 kb.
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2. Breslin L, Guerra N, Ganz L, Ervin D. {{Clinical Utility of Multisensory Environments for People With Intellectual and Developmental Disabilities: A Scoping Review}}. {Am J Occup Ther};2020 (Jan/Feb);74(1):7401205060p7401205061-7401205060p7401205012.
IMPORTANCE: Adults with intellectual and developmental disabilities (IDD) are twice as likely as their peers without disabilities to have had a physical exam in the past year; however, as a result of challenging behavior during office visits, they are significantly less likely to have received recommended health screenings. Challenging behaviors in clinical settings have been identified as a barrier to providing adequate care for this population. OBJECTIVE: This scoping review examined the within-session effects of multisensory environments (MSEs) on people with IDD to determine the clinical utility of MSEs for this population. DATA SOURCES: Studies published between January 1, 2000, and August 1, 2018, were identified using Summon and Google Scholar. STUDY SELECTION: Studies were included in the review if they systematically collected and reported data on within-session effects of an MSE intervention on people with IDD. FINDINGS: Thirteen studies met criteria for this review: 4 with Level I evidence, 2 with Level II evidence, 3 with Level III evidence, and 4 with Level IV evidence. Studies examined the effects of MSEs on maladaptive behaviors, positive behaviors, distress and discomfort, activity and alertness states, and cost of care for people with IDD. CONCLUSION AND RELEVANCE: Preliminary support was found for the use of MSEs in clinical settings to reduce anxiety and challenging behaviors in patients with IDD during clinical care. Further research is needed to determine the efficacy of MSEs for producing the effects described in this review. WHAT THIS ARTICLE ADDS: The findings support the potential of MSEs as a tool that occupational therapy practitioners can use to support their clients with IDD who have sensory sensitivities in clinical settings. This article also highlights a multidisciplinary approach whereby medical providers and occupational therapy practitioners could work together in nontraditional ways to support this population.
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3. Briana DD, Malamitsi-Puchner A. {{Intracytoplasmic sperm injection and fetal origins of autism spectrum disorder: an intriguing, though controversial association}}. {J Matern Fetal Neonatal Med};2020 (Feb 20):1-7.
Latest knowledge assigns the origins of autism spectrum disorder (ASD)-currently affecting 1% of children- to intrauterine life, when fetal brain develops. Besides genetics, environmental factors, responsible for epigenetic changes contributed to its rising incidence. In vitro fertilization (IVF) and the most widely used intracytoplasmic sperm injection (ICSI) are implicated in epigenetic changes. A series of studies examined the impact of ICSI on ASD in the offspring. Results are usually conflicting, due to inherent problems of study design and power, mixed IVF/ICSI cases and not exclusively ASD diagnoses included. Furthermore, preterm birth, low birthweight infants, advanced parental age, hormonal disturbances, all associated with ICSI, are known factors affecting ASD. While solid data supporting ICSI contribution to currently alarming ASD increase are lacking, exploration of underlying molecular mechanisms would strengthen possible associations. In the meanwhile, ICSI use should be restricted to male-factor infertility cases.
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4. Cebula K, Kovshoff H. {{Editorial – Understanding sibling relationships in developmental disabilities}}. {Res Dev Disabil};2020 (Feb 17);99:103607.
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5. Chan RCH, Yi H, Siu QKY. {{Polymorbidity of developmental disabilities: Additive effects on child psychosocial functioning and parental distress}}. {Res Dev Disabil};2020 (Feb 17);99:103579.
BACKGROUND: While parents of children with developmental disabilities show greater parenting burden and distress compared with their counterparts, little is known about to what extent developmental polymorbidity in children escalates and magnifies the risk of parental distress. AIMS: This study investigated the co-occurrence of developmental disabilities among a sample of elementary school children and examined its additive effects on child psychosocial functioning and parental distress. METHODS AND PROCEDURES: A cross-sectional survey among 710 parents of elementary school children in Hong Kong included measures of child psychosocial functioning and parental stress. Structural equation modeling was used to test a hypothesized model in which child psychosocial functioning mediates the effect of developmental polymorbidity on parental distress. OUTCOMES AND RESULTS: About one-fourth of the participants reported their children having two or more developmental disabilities. The number of developmental disabilities was positively related to the severity of emotional and behavioral problems in children, which in turn explained general and parenting distress in parents. CONCLUSIONS AND IMPLICATIONS: Given the heightened vulnerability to distress among parents of children with multiple developmental disabilities, psychological care should particularly target this population. Early identification and intervention strategies are also needed to detect children with multiple co-occurring developmental disabilities, which could potentially alleviate their emotional and behavioral problems and lessen the parenting burden.
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6. Chou WJ, Wang PW, Hsiao RC, Hu HF, Yen CF. {{Role of School Bullying Involvement in Depression, Anxiety, Suicidality, and Low Self-Esteem Among Adolescents With High-Functioning Autism Spectrum Disorder}}. {Front Psychiatry};2020;11:9.
This study aimed to compare the severities of psychopathologies and the level of self-esteem among 219 adolescents with high-functioning autism spectrum disorder (ASD) who were classified into pure perpetrators, pure victims, perpetrator-victims, and neutrals in Taiwan. The experiences of school bullying involvement in the previous 1 year were measured using the Chinese version of the School Bullying Experience Questionnaire. The severities of depression, anxiety, and suicidality were measured using the Center for Epidemiological Studies Depression Scale, the Multidimensional Anxiety Scale for Children, and the 5-item questionnaire from the epidemiological version of the Kiddie Schedule for Affective Disorders and Schizophrenia, respectively. The level of self-esteem was measured using the Rosenberg Self-Esteem Scale. The results indicated that compared with the self-reported neutrals, the self-reported perpetrator-victims and pure victims had more severe depression and anxiety. No difference in depression, suicidality, anxiety, and self-esteem was found among the four groups of various parent-reported bullying involvement experiences. Mental health problems in adolescents with ASD who experienced bullying victimization should be routinely surveyed.
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7. Coll MP, Whelan E, Catmur C, Bird G. {{Autistic traits are associated with atypical precision-weighted integration of top-down and bottom-up neural signals}}. {Cognition};2020 (Feb 19);199:104236.
Bayesian accounts of perception, in particular predictive coding models, argue perception results from the integration of ‘top-down’ signals coding the predicted state of the world with ‘bottom-up’ information derived from the senses. This integration is biased towards predictions or sensory evidence according to their relative precision. Recent theoretical accounts of autism suggest that several characteristics of the condition could result from atypically imprecise top-down, or atypically precise bottom-up, signals, leading to a bias towards sensory evidence. Whether the integration of these signals is intact in autism, however, has not been tested. Here, we used hierarchical frequency tagging, an EEG paradigm that allows the independent tagging of top-down and bottom-up signals as well as their integration, to assess the relationship between autistic traits and these signals in 25 human participants (13 females, 12 males). We show that autistic traits were selectively associated with atypical precision-weighted integration of top-down and bottom-up signals. Low levels of autistic traits were associated with the expected increase in the integration of top-down and bottom-up signals with increasing predictability, while this effect decreased as the degree of autistic traits increased. These results suggest that autistic traits are linked to atypical precision-weighted integration of top-down and bottom-up neural signals and provide additional evidence for a link between atypical hierarchical neural processing and autistic traits.
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8. de Leeuw A, Happe F, Hoekstra RA. {{A Conceptual Framework for Understanding the Cultural and Contextual Factors on Autism Across the Globe}}. {Autism Res};2020 (Feb 21)
Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low- and middle-income settings where the majority of the global autism population lives. To date, a clear overview of the possible cultural and contextual factors that may affect the process of identifying and diagnosing individuals with autism spectrum disorders (ASD) is missing. This study aims to outline these factors by proposing a conceptual framework. A multidisciplinary review approach was applied to inform the development of the conceptual framework, combining a systematic review of the relevant autism research literature with a wider literature search spanning key texts in global mental health, cultural psychiatry, cross-cultural psychology, and intellectual disability research. The resulting conceptual framework considers the identification, help-seeking, and diagnostic process at four interrelated levels: (a) the expression; (b) recognition; (c) interpretation; and (d) reporting of autism symptoms, and describes the cultural and contextual factors associated with each of these levels, including cultural norms of typical and atypical behavior, culture-specific approaches to parenting, mental health literacy, cultural beliefs, attitudes and stigma, as well as the affordability, availability, accessibility, and acceptability of services. This framework, mapping out the cultural and contextual factors that can affect the identification, help-seeking, and diagnosis of ASD may function as a springboard for the development of culturally appropriate autism screening and diagnostic instruments, and inform future cross-cultural autism research directions. The framework also has relevance for clinicians and policy makers aiming to improve support for underserved autism populations worldwide. LAY SUMMARY: The vast majority of autism research is conducted in western high-income settings. We therefore know relatively little of how culture and context can affect the identification, help-seeking, and diagnosis of autism across the globe. This study synthesizes what is known from the autism research literature and a broader literature and maps out how culture and context may affect (a) the expression, (b) recognition, (c) interpretation, and (d) reporting of autism symptoms. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Evers K, Maljaars J, Carrington SJ, Carter AS, Happe F, Steyaert J, Leekam SR, Noens I. {{How well are DSM-5 diagnostic criteria for ASD represented in standardized diagnostic instruments?}}. {Eur Child Adolesc Psychiatry};2020 (Feb 19)
Five years after the publication of DSM-5 in 2013, three widely used diagnostic instruments have published algorithms designed to represent its (sub-)criteria for Autism Spectrum Disorder (ASD) in children and adolescents. This study aimed to: (1) establish the content validity of these three DSM-5-adapted algorithms, and (2) identify problems with the operationalization of DSM-5 diagnostic criteria in measurable and observable behaviors. Algorithm items of the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Developmental, Dimensional and Diagnostic Interview (3di) and Diagnostic Interview for Social and Communication Disorders-11th edition (DISCO-11) were mapped onto DSM-5 sub-criteria. The development and decision-making rules integrated in their algorithms were then compared with DSM-5. Results demonstrated significant variability in the number and nature of sub-criteria covered by the ADOS-2, 3di and DISCO-11. In addition to differences in the development of algorithms and cut-off scores, instruments also differed in the extent to which they follow DSM-5 decision-making rules for diagnostic classification. We conclude that such differences in interpretation of DSM-5 criteria provide a challenge for symptom operationalization which will be most effectively overcome by consensus, testing and reformulation.
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10. Guerini FR, Bolognesi E, Chiappedi M, Mensi MM, Fumagalli O, Rogantini C, Zanzottera M, Ghezzo A, Zanette M, Agliardi C, Costa AS, Sotgiu S, Carta A, Al Daghri N, Clerici M. {{Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder}}. {Autism Res};2020 (Feb 21)
Vitamin D is endowed with a number of biological properties, including down-regulation of inflammation, and might contribute to the pathogenesis of autism spectrum disorders (ASD). Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR FokI, BsmI, ApaI, and TaqI gene polymorphisms. We evaluated such Single Nucletoide Polymorphismsm (SNPs) in a cohort of 100 Italian families with ASD children. FokI genotype distribution was skewed in ASD children compared with their healthy sibs (Pc = 0.03 2 df) and to a group of 170 Italian healthy women (HC) (Pc = 0.04 2 df). FokI genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (Pc = 0.04 2 df). Both Transmission Disequilibrium Test for single loci and haplotype analysis distribution revealed a major FokI (C) allele-mediated protective effect, which was more frequently transmitted (73%) than not transmitted to healthy sibs (P = 0.02). A protective FokI-, BsmI-, ApaI-, and TaqI (CCAG) haplotype was more frequently carried by healthy sibs than by ASD children (P = 1 x 10(-4) ; OR: 0.1, 95% CI: 0.03-0.4) too. Finally, a strong gene-dose association of FokI (T) allele with both higher Childhood Autism Rating Scale score (Pc = 0.01) and, particularly, with hyperactivity behavior (Pc = 0.006) emerged in ASD children. Because the protein produced by the FokI (T) allele is transcriptionally less active than that produced by the FokI (C) allele, the reduced biological activity of the vitamin D/VDR complex prevalent in ASD could favor ASD- and maternal immune activation- associated inflammation. Vitamin D supplementation might be useful in preventative and rehabilitation protocols for ASD. LAY SUMMARY: Vitamin D deficiency and Vitamin D receptor (VDR) polymorphisms are associated with structural and functional brain abnormalities and behavioral disorders. We analyzed the association of VDR gene polymorphisms in a cohort of 100 Italian families with ASD children. A strong correlation between one of the VDR polymorphisms and hyperactivity behavior was evidenced in ASD children. In healthy mothers, the same VDR polymorphism was also correlated with an increased risk of giving birth to children with ASD. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Hayes J, McCabe R, Ford T, Russell G. {{Drawing a line in the sand: affect and testimony in autism assessment teams in the UK}}. {Sociol Health Illn};2020 (Feb 21)
Diagnosis of autism in the UK is generally made within a multidisciplinary team setting and is primarily based on observation and clinical interview. We examined how clinicians diagnose autism in practice by observing post-assessment meetings in specialist autism teams. Eighteen meetings across four teams based in the south of England and covering 88 cases were audio-recorded, transcribed and analysed using thematic analysis. We drew out two themes, related to the way in which clinicians expressed their specialist disciplinary knowledge to come to diagnostic consensus: Feeling Autism in the Encounter; and Evaluating Testimonies of Non-present Actors. We show how clinicians produce objective accounts through their situated practices and perform diagnosis as an act of interpretation, affect and evaluation to meet the institutional demands of the diagnostic setting. Our study contributes to our understanding of how diagnosis is accomplished in practice.
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12. Hochard KD, Pendrous R, Mari T, Flynn S. {{Examining the Relationship Between Autism Traits and Sleep Duration as Predictors of Suicidality}}. {J Autism Dev Disord};2020 (Feb 21)
Short sleep duration is a known risk factor for suicidality in the general population, yet it is unclear how short sleep interacts with autism traits in predicting suicidality. In this cross-sectional online study, a general population sample (N = 650) completed measures assessing autism traits, suicidal ideation, and sleep duration. Moderated hierarchical regressions demonstrated that higher autism traits and shorter sleep were independent predictors of increased suicide ideation. However, sleep duration did not significantly moderate the autism trait to suicide ideation relationship. Future work should explore this relationship longitudinally using objective measures before considering intervention work to increase sleep duration in those with elevated autism traits.
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13. Kong XJ, Liu J, Li J, Kwong K, Koh M, Sukijthamapan P, Guo JJ, Sun ZJ, Song Y. {{Probiotics and oxytocin nasal spray as neuro-social-behavioral interventions for patients with autism spectrum disorders: a pilot randomized controlled trial protocol}}. {Pilot Feasibility Stud};2020;6:20.
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in social interaction and communication. Oxytocin (OXT), as a neuropeptide, plays a role in emotional and social behaviors. Lactobacillus reuteri (L. reuteri) supplementation led to an OXT-dependent behavioral improvement in ASD mouse models. Despite some promising results from animal studies, little is known about the efficacy of supplementation with L. reuteri, alone or with exogenous OXT therapy, on social-behavioral functions in ASD patients. This paper presents a protocol for a pilot randomized controlled trial to evaluate the feasibility of conducting a full trial comparing oral supplementation of L. reuteri probiotics and intranasal OXT spray to placebo on the effect of social and behavioral functions in ASD patients. The study will also capture preliminary estimates of the efficacy of the proposed interventions in ASD patients. Methods: This pilot trial is a two-staged, randomized, double-blind, placebo-controlled, parallel-group study. Throughout the study (0-24 weeks), 60 patients with ASD will be randomly assigned to receive either oral L. reuteri probiotics or placebo. In the second study stage (13-24 weeks), all participants will receive intranasal OXT spray. As primary outcomes, serum OXT levels will be assayed and social behaviors will be assessed via the Autism Behavior Checklist and the Social Responsiveness Scale which are validated questionnaires, an objective emotional facial matching test, and a new video-based eye-tracking test. Secondary outcomes include the GI-severity-index and Bristol Stool Chart to assess GI function and gut microbiome/short-chain fatty acids. All the outcomes will be assessed at baseline and weeks 12 and 24. Discussion: This pilot study will provide important information on the feasibility of recruitment, blinding and concealment, treatment administration, tolerability and adherence, specimen collection, outcome assessment, potential adverse effects, and the preliminary efficacy on both primary and secondary outcomes. If successful, this pilot study will inform a larger randomized controlled trial fully powered to examine the efficacies of oral L. reuteri probiotics and/or intranasal OXT spray on social-behavioral improvement in ASD patients. Trial registration: ClinicalTrials.gov, NCT03337035. Registered 8 November 2017.
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14. Kranz AM, Ross R, Sorbero M, Kofner A, Stein BD, Dick AW. {{Impact of a Medicaid policy on preventive oral health services for children with intellectual disabilities, developmental disabilities, or both}}. {J Am Dent Assoc};2020 (Feb 17)
BACKGROUND: Integrating preventive oral health services (POHS) into medical offices may ease access to care for children with intellectual and developmental disabilities (IDD). The authors examined the impact of state policies allowing delivery of POHS in medical offices on receipt of POHS among Medicaid enrollees with IDD. METHODS: The authors used 2006 through 2014 Medicaid data for children with IDD aged 6 months through 5 years from 38 states. IDD were defined using 14 condition codes from Centers for Medicare & Medicaid Services Chronic Conditions Data Warehouse. The length of the state’s medical POHS policy (no policy, < 1 year, 1 year, 2 years, 3 years, or >/= 4 years) was interacted with an indicator that the child was younger than 3 years. The authors used logistic regression models to estimate the likelihood that a child received POHS in a medical office or in a medical or dental office in a given year. RESULTS: Among 447,918 children with IDD, 1.6% received POHS in medical offices. Children younger than 3 years in states with longer-enacted policies had higher rates of receiving POHS. For example, the predicted probability of receiving POHS was 40.6% (95% confidence interval, 36.3% to 44.9%) for children younger than 3 years in states with a medical POHS policy for more than 4 years compared with 30.6% (95% confidence interval, 27.8% to 33.5%) for children in states without a policy. CONCLUSIONS: State Medicaid policies allowing delivery of POHS in medical offices increased receipt of POHS among Medicaid-enrolled children with IDD who were younger than 3 years. PRACTICAL IMPLICATIONS: Few children with IDD receive POHS in any setting. Efforts are needed to reduce barriers to POHS for publicly insured children with IDD.
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15. Lee EAL, Black MH, Falkmer M, Tan T, Sheehy L, Bolte S, Girdler S. {{« We Can See a Bright Future »: Parents’ Perceptions of the Outcomes of Participating in a Strengths-Based Program for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Feb 19)
Autistic individuals often possess strengths and abilities. Despite these strengths, employment outcomes for this population remain low. Strengths-based programs, focusing on developing skills in a supportive environment, may enable autistic adolescents to more effectively prepare for the workforce. This study explores the principal components and associated outcomes of a strengths-based program designed to support autistic children and adolescents to develop interests and skills in Science, Technology, Engineering, Arts, and Mathematics. The baseline results of 52 parents of autistic youth participating in a 3-year longitudinal survey study were explored, with results showing that according to parents the program positively impacted participants’ sense of belonging, confidence and self-esteem, health and well-being, social relationships and interactions, and activities and participation.
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16. Levante A, Petrocchi S, Massagli A, Filograna MR, De Giorgi S, Lecciso F. {{Early Screening of the Autism Spectrum Disorders: Validity Properties and Cross-Cultural Generalizability of the First Year Inventory in Italy}}. {Brain Sci};2020 (Feb 18);10(2)
This study examined the cross-cultural generalisability of the First Year Inventory (FYI) on an Italian sample, testing its construct validity, consistency, and structural validity. Six hundred ninety-eight parents of children aged 11-13 months completed the questionnaire. Similarities between analyses of Italian and American/Israeli samples were found, as were demonstrations of the instrument’s construct validity and internal consistency with both groups. The original factorial structure was not demonstrated; thus, a new factorial structure was tested, and a short version of the FYI was demonstrated via confirmatory factor analysis. The findings supported the generalisability of the Italian version of the FYI and its validity. The FYI may aid in medical decision-making on further steps for referral of the child to an early diagnostic assessment.
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17. Lucardo JDC, Monk GF, Dias MDS, Martins-Silva T, Fernandes M, Maia J, Valle SC, Vaz JDS. {{Interest in food and triglyceride levels in children and adolescents with autistic spectrum disorder}}. {J Pediatr (Rio J)};2020 (Feb 19)
OBJECTIVE: To investigate eating behavior and serum level of triglycerides in children and adolescents with autistic spectrum disorder. METHODS: Cross-sectional study conducted in the neurodevelopment nucleus, from October 2018 to April 2019 in a neurodevelopment center in the city of Pelotas/RS. Blood samples were collected, and serum was essayed for triglycerides by colorimetric enzymatic reaction. The Children’s Eating Behavior Questionnaire was applied to the parents. The comparison between two or three categories of variables was performed with nonparametric tests. Linear regression was used to access the association between the log triglyceride serum level and the score above or below the median score of the food response and emotional overeating subscales. RESULTS: Sixty patients were evaluated. The average age was 8.6+/-3.2 years and most were white (75 %), male (80 %), and overweight (66 %). Half of the sample had elevated triglycerides. Triglyceride levels were higher among overweight children and adolescents with higher median scores on the « food response » and « emotional overeating » subscales. In the adjusted analysis, the association between triglycerides and higher scores on subscales reflecting interest in food remained significant. CONCLUSION: Children and adolescents with autistic spectrum disorder present high triglyceride levels associated with a greater interest in food. Knowledge of this eating behavior may provide more effective nutritional intervention in this population.
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18. Martin KB, Haltigan JD, Ekas N, Prince EB, Messinger DS. {{Attachment security differs by later autism spectrum disorder: A prospective study}}. {Dev Sci};2020 (Feb 20)
Although difficulties with social relationships are key to autism spectrum disorder (ASD), no previous study has examined infant attachment security prior to ASD diagnosis. We prospectively assessed attachment security at 15 months in high-risk infants with later ASD (High-Risk/ASD, n=16), high-risk infants without later ASD (High-Risk/No-ASD, n=40), and low-risk infants without later ASD (Low-Risk/No-ASD, n=39) using the Strange Situation Procedure. High-Risk/ASD infants were disproportionately more likely to be classified as insecure (versus secure) and more likely to be classified as insecure-resistant (versus secure or avoidant) than High-Risk/No-ASD and Low-Risk/No-ASD infants. High-risk infants with insecure-resistant attachments were over nine times more likely to receive an ASD diagnosis than high-risk infants with secure attachments. Insecure-resistant attachment in high-risk infants suggests a propensity toward negative affect with the parent in conditions of stress. Insecure-resistant attachment may prove useful as a potential early index of propensity toward ASD diagnosis in high-risk siblings, while insecure-resistant attachment in the context of emergent autism may contribute to difficulties experienced by children with ASD and their families.
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19. Menashe I, Dinstein I, Flusser H, Michaelovski A, Bashiri A, Meiri G. {{False Interpretation of Scientific Data Leads to Biased Conclusions About the Association Between Cesarean Deliveries Under General Anesthesia and Risk of Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Feb 19)
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20. Pagni BA, Walsh MJM, Foldes E, Sebren A, Dixon MV, Guerithault N, Braden BB. {{The neural correlates of mindfulness-induced depression reduction in adults with autism spectrum disorder: A pilot study}}. {J Neurosci Res};2020 (Feb 23)
Adults with autism spectrum disorder (ASD) experience high rates of depression and anxiety, and some evidence suggests mindfulness-based stress reduction (MBSR) is effective in reducing these symptoms. However, the neural mechanisms of symptom alleviation, and benefit of MBSR beyond education/support groups are unknown. Maladaptive forms of self-reflection are linked to ASD, depression, and anxiety. In this pilot study, we hypothesized (a) MBSR would reduce depression and anxiety in adults with ASD and (b) a mechanism of symptom alleviation would be increased blood oxygen level-dependent signal in neural self-reflection hubs. Twenty-eight adults were randomly assigned to an 8-week MBSR group (n = 15) or a support group (n = 13) that met for the same amount of time with relaxation education materials. Based on previous self-reflection literature in ASD, regions of interest (ROIs) were middle cingulate cortex (MCC) and ventromedial prefrontal cortex (vmPFC). Only the MBSR group demonstrated significant reductions in depression, and neither group significantly changed in anxiety. Only the MBSR group increased activity of right MCC during self-reflection, and the increase correlated with depression alleviation. There were no changes in vmPFC for the MBSR group or either ROI for the support/education group. Seed-to-voxel connectivity analysis revealed that only the MBSR group increased functional connectivity between right MCC and pre/postcentral gyrus, suggesting MBSR may increase primary sensorimotor input to higher order cognitive brain regions. Taken together, MBSR may be effective for reducing depression in adults with ASD, and the neural mechanism may be increasing frontal circuit involvement during self-directed thought.
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21. Principi N, Esposito S. {{Vitamin D Deficiency During Pregnancy and Autism Spectrum Disorders Development}}. {Front Psychiatry};2019;10:987.
Autism spectrum disorder is a neurodevelopmental disorder characterized by reduced social interactions, impaired communications, and stereotypic and repetitive behavior with different degrees of severity. The etiology of autism spectrum disorder is unknown, although the interaction of genetic and environmental factors is believed to play a fundamental role in the process. The main aim of this narrative review is to discuss the current knowledge about the interrelationships between vitamin D deficiency during pregnancy and autism spectrum disorder development. Literature analysis showed that vitamin D supplementation during pregnancy plays a role in conditioning the development and function of the nervous system. Studies carried out in vitro and in experimental animals have shown that vitamin D deficiency can be associated with structural and functional abnormalities of the nervous system that can be observed in autism spectrum disorder patients. Moreover, it has been reported that vitamin D deficiency during pregnancy could be a risk factor for autism spectrum disorder development in the offspring, that children with autism spectrum disorder have significantly lower serum levels of vitamin D than normal children and that supplementation of vitamin D in autism spectrum disorder children is associated with a reduction in psychiatric manifestations. However, the data currently available do not adequately support the hypothesis that vitamin D may be a factor which contribute to the etiology of autism spectrum disorder. The effects of vitamin D supplementation during pregnancy should be better studied to establish whether and when fetal vulnerability is highest and if vitamin D supplementation is able to reduce the risk of structural and functional alterations of the nervous system and autism spectrum disorder development. The role of vitamin D after birth must be better defined to evaluate if vitamin D administration is potentially effective in reducing autism spectrum disorder manifestations.
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22. Sampson KN, Upthegrove R, Abu-Akel A, Haque S, Wood SJ, Reniers R. {{Co-occurrence of autistic and psychotic traits: implications for depression, self-harm and suicidality}}. {Psychol Med};2020 (Feb 21):1-9.
BACKGROUND: There is increasing interest in the clinical and aetiological overlap between autism spectrum disorders and schizophrenia spectrum disorders, reported to co-occur at both diagnostic and trait levels. Individually, sub-clinical autistic and psychotic traits are associated with poor clinical outcomes, including increased depressive symptomatology, self-harming behaviour and suicidality. However, the implications when both traits co-occur remain poorly understood. The study aimed to (1) examine the relationship between autistic and psychotic traits and (2) determine if their co-occurrence increases depressive symptomatology, self-harm and suicidality. METHODS: Cross-sectional data from a self-selecting (online and poster advertising) sample of the adult UK population (n = 653) were collected using an online survey. Validated self-report measures were used to assess sub-clinical autistic and psychotic traits, depressive symptomatology, self-harming behaviour and suicidality. Correlation and regression analyses were performed. RESULTS: A positive correlation between sub-clinical autistic and positive psychotic traits was confirmed (rs = 0.509, p < 0.001). Overall, autistic traits and psychotic traits were, independently, significant predictors of depression, self-harm and suicidality. Intriguingly, however, depression was associated with a negative interaction between the autistic domain attention to detail and psychotic traits. CONCLUSIONS: This study supports previous findings that sub-clinical autistic and psychotic traits are largely independently associated with depression, self-harm and suicidality, and is novel in finding that their combined presence has no additional effect on depression, self-harm or suicidality. These findings highlight the importance of considering both autistic and psychotic traits and their symptom domains in research and when developing population-based depression prevention and intervention strategies. Lien vers le texte intégral (Open Access ou abonnement)
23. Siciliano L, Clausi S. {{Implicit vs. Explicit Emotion Processing in Autism Spectrum Disorders: An Opinion on the Role of the Cerebellum}}. {Front Psychol};2020;11:96.
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24. Silva K, Lima M, Fafiaes C, Sinval J, de Sousa L. {{Preliminary Test of the Potential of Contact With Dogs to Elicit Spontaneous Imitation in Children and Adults With Severe Autism Spectrum Disorder}}. {Am J Occup Ther};2020 (Jan/Feb);74(1):7401205070p7401205071-7401205070p7401205078.
IMPORTANCE: Finding strategies to enhance imitation skills in people with autism spectrum disorder (ASD) is of major clinical relevance. OBJECTIVE: To evaluate whether contact with dogs may be a useful approach to elicit spontaneous imitation in people with ASD. DESIGN: Participants completed a spontaneous imitation task under three experimental conditions: after a free-play interaction with a live dog, after a free-play interaction with a robotic dog, and after a waiting period that involved no stimuli. PARTICIPANTS: Ten children and 15 adults diagnosed with severe ASD. OUTCOMES AND MEASURES: Imitation ratio, imitation accuracy, and indicators of social motivation. RESULTS: Children appeared more motivated and engaged more frequently in spontaneous imitation in the live dog condition than in the other conditions. No differences between conditions were found for adults for imitation or social motivation. However, correlations suggested a possible trend for adults in time spent engaging with the live dog before testing and in increased imitation frequency. CONCLUSIONS AND RELEVANCE: The results are preliminary and do not indicate the utility of integrating (live) dogs into interventions aimed at promoting social motivation and enhancing imitation skills in people with ASD. However, they suggest that doing so holds promise. Larger scale studies are now needed. WHAT THIS ARTICLE ADDS: This research calls for occupational therapy practitioners’ attention to the potential benefits that may derive from using dogs to promote spontaneous imitation, and increase imitation performance, in people with ASD, particularly children.
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25. Tsurugizawa T, Tamada K, Ono N, Karakawa S, Kodama Y, Debacker C, Hata J, Okano H, Kitamura A, Zalesky A, Takumi T. {{Awake functional MRI detects neural circuit dysfunction in a mouse model of autism}}. {Sci Adv};2020 (Feb);6(6):eaav4520.
MRI has potential as a translational approach from rodents to humans. However, given that mouse functional MRI (fMRI) uses anesthetics for suppression of motion, it has been difficult to directly compare the result of fMRI in « unconsciousness » disease model mice with that in « consciousness » patients. We develop awake fMRI to investigate brain function in 15q dup mice, a copy number variation model of autism. Compared to wild-type mice, we find that 15q dup is associated with whole-brain functional hypoconnectivity and diminished fMRI responses to odors of stranger mice. Ex vivo diffusion MRI reveals widespread anomalies in white matter ultrastructure in 15q dup mice, suggesting a putative anatomical substrate for these functional hypoconnectivity. We show that d-cycloserine (DCS) treatment partially normalizes these anormalies in the frontal cortex of 15q dup mice and rescues some social behaviors. Our results demonstrate the utility of awake rodent fMRI and provide a rationale for further investigation of DCS therapy.
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26. Yarlagadda A, Acharya G, Kasaraneni J, Hampe CS, Clayton AH. {{Placental Barrier and Autism Spectrum Disorders: The Roles of Prolactin and Dopamine in the Developing Fetal Brain-Part II}}. {Innov Clin Neurosci};2019 (Nov 1);16(11-12):36-39.
The inverse relationship between prolactin and dopamine is important in the context of treatment with antipsychotic medications in men and nonpregnant women with thought disorders. Likewise, increased levels of prolactin as confirmation of recent seizure and the reciprocal levels of prolactin and dopamine in both eclampsia (seizures) and pre-eclampsia might have significant potential effects on a growing fetus. In this article, we attempt to outline the influence of these associations on autism spectrum disorders (ASDs) in children born to mothers with established diagnoses of eclampsia and/or pre-eclampsia. Our previously published paper, « Placental Barrier and Autism Spectrum Disorders: The Role of Prolactin and Dopamine on the Developing Fetal Brain, » summarized evidence for dysregulated dopamine and prolactin levels in the etiology of ASDs and suggested a possible method for assessing whether such aberrations increase the risk of ASDs. The present paper as Part 2 expands on the published data that support this theory and proposes a study design to corroborate this hypothesis.
27. Zurcher NR, Loggia ML, Mullett JE, Tseng C, Bhanot A, Richey L, Hightower BG, Wu C, Parmar AJ, Butterfield RI, Dubois JM, Chonde DB, Izquierdo-Garcia D, Wey HY, Catana C, Hadjikhani N, McDougle CJ, Hooker JM. {{[(11)C]PBR28 MR-PET imaging reveals lower regional brain expression of translocator protein (TSPO) in young adult males with autism spectrum disorder}}. {Mol Psychiatry};2020 (Feb 19)
Mechanisms of neuroimmune and mitochondrial dysfunction have been repeatedly implicated in autism spectrum disorder (ASD). To examine these mechanisms in ASD individuals, we measured the in vivo expression of the 18 kDa translocator protein (TSPO), an activated glial marker expressed on mitochondrial membranes. Participants underwent scanning on a simultaneous magnetic resonance-positron emission tomography (MR-PET) scanner with the second-generation TSPO radiotracer [(11)C]PBR28. By comparing TSPO in 15 young adult males with ASD with 18 age- and sex-matched controls, we showed that individuals with ASD exhibited lower regional TSPO expression in several brain regions, including the bilateral insular cortex, bilateral precuneus/posterior cingulate cortex, and bilateral temporal, angular, and supramarginal gyri, which have previously been implicated in autism in functional MR imaging studies. No brain region exhibited higher regional TSPO expression in the ASD group compared with the control group. A subset of participants underwent a second MR-PET scan after a median interscan interval of 3.6 months, and we determined that TSPO expression over this period of time was stable and replicable. Furthermore, voxelwise analysis confirmed lower regional TSPO expression in ASD at this later time point. Lower TSPO expression in ASD could reflect abnormalities in neuroimmune processes or mitochondrial dysfunction.
