1. Boban S, Leonard H, Wong K, Wilson A, Downs J. {{Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices}}. {Am J Med Genet A};2018 (Apr 28)
Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their families yet the evidence base for management is poor. We investigated management strategies and their relationships with sleep problems. Data were provided by 364/461 (79%) families with a child with RTT and registered with the International RTT Phenotype Database. Logistic regression models were used to investigate relationships between impacts of sleep problems on the child and family with age group, mutation type, medication type, and sleep hygiene score. Linear regression models were used to estimate the association of disorders of initiating and maintaining sleep (DIMS) with age group, mutation type, medication type, and sleep hygiene. Among those who ever had difficulty falling asleep or night waking, use of any medication was associated with higher odds of moderate/major impact sleep problems (relative to minor/no impact) for the affected child and the family, as well as higher DIMS scores, when compared with the no treatment/nonmedication group accounting for the effects of age, mutation type, and sleep hygiene score. Better use of sleep hygiene practices was associated with lower odds of moderate/major impact on the family (odds ratio 0.60, 95% confidence intervals [CIs] 0.37, 0.98) and lower DIMS scores (geometric mean ratio 0.86, 95%CI 0.80, 0.92) compared with poorer use after adjusting for covariates. Attention to sleep hygiene remains an important management strategy for sleep problems in RTT. Further prospective research is required to investigate efficacy of pharmaceutical treatments.
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2. Brignell A, Williams K, Jachno K, Prior M, Reilly S, Morgan AT. {{Patterns and Predictors of Language Development from 4 to 7 Years in Verbal Children With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Apr 28)
This study used a prospective community-based sample to describe patterns and predictors of language development from 4 to 7 years in verbal children (IQ >/= 70) with autism spectrum disorder (ASD; n = 26-27). Children with typical language (TD; n = 858-861) and language impairment (LI; n = 119) were used for comparison. Children with ASD and LI had similar mean language scores that were lower on average than children with TD. Similar proportions across all groups had declining, increasing and stable patterns. Language progressed at a similar rate for all groups, with progress influenced by IQ and language ability at 4 years rather than social communication skills or diagnosis of ASD. These findings inform advice for parents about language prognosis in ASD.
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3. Cooper K, Smith LGE, Russell AJ. {{Gender Identity in Autism: Sex Differences in Social Affiliation with Gender Groups}}. {J Autism Dev Disord};2018 (Apr 28)
High rates of gender variance have been reported in autistic people, with higher variance in autistic females than males. The social component of gender identity may be affected, with autistic females experiencing lower identification with and feeling less positively about their gender groups than controls. We measured gender identification, gender self-esteem, and aspects of gender expression (masculinity and femininity) in autistic natal males and females, and controls (N = 486). We found that autistic people had lower gender identification and gender self-esteem than controls, and autistic natal females had lower gender identification than autistic natal males and natal female controls. In conclusion, autistic people, particularly natal females, had lower social identification with and more negative feelings about a gender group.
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4. Franchini M, Zoller D, Gentaz E, Glaser B, Wood de Wilde H, Kojovic N, Eliez S, Schaer M. {{Early Adaptive Functioning Trajectories in Preschoolers With Autism Spectrum Disorders}}. {J Pediatr Psychol};2018 (Apr 25)
Background: In preschoolers with autism spectrum disorder (ASD) symptom, severity has a negative impact on the development of adaptive functioning, with critical consequences on the quality of life of those children. Developmental features such as reduced social interest or the presence of behavioral problems can further impede daily life learning experiences. Objectives: The first aim of this study is to confirm the negative impact of high symptom severity on adaptive functioning trajectories in preschoolers with ASD. The second objective intends to explore whether reduced social interest and severe behavioral problems negatively affect developmental trajectories of adaptive functioning in young children with ASD. Methods: In total, 68 children with ASD and 48 age and gender-matched children with typical development (TD) between 1.6 and 6 years were included in our study, and longitudinal data on adaptive functioning were collected (mean length of the longitudinal data collection was 1.4 years +/- 0.6). Baseline measures of symptom severity, social interest, and behavioral problems were also obtained. Results: We confirmed that children with ASD show parallel developmental trajectories but a significantly lower performance of adaptive functioning compared with children with TD. Furthermore, analyses within ASD children demonstrated that those with higher symptom severity, reduced social interest, and higher scores of behavioral problems exhibited especially lower or faster declining trajectories of adaptive functioning. Conclusions: These findings bolster the idea that social interest and behavioral problems are crucial for the early adaptive functioning development of children with autism. The current study has clinical implications in pointing out early intervention targets in children with ASD.
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5. Guastella AJ, Cooper MN, White CRH, White MK, Pennell CE, Whitehouse AJO. {{Does perinatal exposure to exogenous oxytocin influence child behavioural problems and autistic-like behaviours to 20 years of age?}}. {J Child Psychol Psychiatry};2018 (Apr 27)
BACKGROUND: The neuropeptide and hormone oxytocin is known to have a significant impact on social cognition and behaviour in humans. There is growing concern regarding the influence of exogenous oxytocin (OT) administration in early life on later social and emotional development, including autism spectrum disorder (ASD). No study has examined offspring development in relation to the dose of exogenous oxytocin administered during labour. METHODS: Between 1989 and 1992, 2,900 mothers were recruited prior to the 18th week of pregnancy, delivering 2,868 live offspring. The Child Behaviour Checklist was used to measure offspring behavioural difficulties at ages 5, 8, 10, 14 and 17 years. Autism spectrum disorder was formally diagnosed by consensus of a team of specialists. At 20 years, offspring completed a measure of autistic-like traits, the Autism Spectrum Quotient (AQ). Oxytocin exposure prior to birth was analysed using categorical and continuous approaches (maternal oxytocin dose) with univariate and multivariate statistical techniques. RESULTS: Categorical analyses of oxytocin exposure prior to birth demonstrated no group differences in any measures of child behaviour. A small in magnitude dose-response association was observed for clinically significant total behaviour symptoms (adjusted odds ratio 1.03; 95% CI: 1.01-1.06, p < .01). Exogenous oxytocin administration prior to birth was not associated with ASD (OR: 0.64; 95% CI: 0.15-2.12, p = .46) or high levels of autistic-like traits (p = .93), as assessed by the AQ. CONCLUSIONS: This study is the first to investigate longitudinal mental health outcomes associated with the use of oxytocin-based medications during labour. The results do not provide evidence to support the theory that exogenous OT has a clinically significant negative impact on the long-term mental health of children. Lien vers le texte intégral (Open Access ou abonnement)
6. Ramsey RK, Nichols L, Ludwig NN, Fein D, Adamson LB, Robins DL. {{Brief Report: Sex Differences in Parental Concerns for Toddlers with Autism Risk}}. {J Autism Dev Disord};2018 (Apr 26)
Research on sex differences in autism spectrum disorder (ASD) suggests both higher prevalence and a more easily observable presentation of core ASD symptomology in males, which may lead to sex differences in parental concerns. The current study examined whether sex and diagnosis relate to the timing, number, and types of pre-diagnosis concerns for 669 (Nmale = 468) toddlers who screened at risk for ASD. No sex differences in parents’ concerns emerged for toddlers diagnosed with ASD; however, in the overall at-risk sample, parents of boys endorsed ASD symptoms, including restricted and repetitive behaviors, more than parents of girls. Future research should examine why sex differences in pre-diagnosis concerns emerge and how they might impact early diagnosis for at-risk boys versus girls.
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7. Sung M, Goh TJ, Tan BLJ, Chan JS, Liew HSA. {{Comparison of DSM-IV-TR and DSM-5 Criteria in Diagnosing Autism Spectrum Disorders in Singapore}}. {J Autism Dev Disord};2018 (Apr 28)
Our study examines the Diagnostic and Statistical Manual-Fifth Edition (DSM-5) and Diagnostic and Statistical Manual-Fourth Edition, Text Revision (DSM-IV-TR) when applied concurrently against the best estimate clinical diagnoses for 110 children (5.1-19.6 years old) referred for diagnostic assessments of Autism Spectrum Disorder (ASD) in a Singaporean outpatient speciality clinic. DSM-IV-TR performed slightly better, yielding sensitivity of 0.946 and specificity of 0.889, compared to DSM-5 (sensitivity = 0.837; specificity = 0.833). When considering the ASD sub-categories, sensitivity ranged from 0.667 to 0.933, and specificity ranged from 0.900 to 0.975. More participants with a PDD-NOS best estimate clinical diagnosis (40%) were misclassified on DSM-5. Merits and weaknesses to both classification systems, and implications for access to services and policy changes are discussed.
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8. Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. {{An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder}}. {Nat Genet};2018 (Apr 26)
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide variants, insertion/deletions, and all classes of structural variation from whole-genome sequencing (WGS). Integrating genomic annotations at the level of nucleotides, genes, and regulatory regions, we define 51,801 annotation categories. Analyses of 519 autism spectrum disorder families did not identify association with any categories after correction for 4,123 effective tests. Without appropriate correction, biologically plausible associations are observed in both cases and controls. Despite excluding previously identified gene-disrupting mutations, coding regions still exhibited the strongest associations. Thus, in autism, the contribution of de novo noncoding variation is probably modest in comparison to that of de novo coding variants. Robust results from future WGS studies will require large cohorts and comprehensive analytical strategies that consider the substantial multiple-testing burden.
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9. Widowati EW, Ernst S, Hausmann R, Muller-Newen G, Becker W. {{Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism}}. {Biol Open};2018 (Apr 26);7(4)
Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectual disability, epileptic seizures, autism spectrum disorder and language delay. DYRK1A is an evolutionary conserved protein kinase which achieves full catalytic activity through tyrosine autophosphorylation. We used a heterologous mammalian expression system to explore the functional characteristics of pathogenic missense variants that affect the catalytic domain of DYRK1A. Four of the substitutions eliminated tyrosine autophosphorylation (L245R, F308V, S311F, S346P), indicating that these variants lacked kinase activity. Tyrosine phosphorylation of DYRK1A-L295F in mammalian cells was comparable to wild type, although the mutant showed lower catalytic activity and reduced thermodynamic stability in cellular thermal shift assays. In addition, we observed that one variant (DYRK1A-T588N) with a mutation outside the catalytic domain did not differ from wild-type DYRK1A in tyrosine autophosphorylation, catalytic activity or subcellular localization. These results suggest that the pathogenic missense variants in the catalytic domain of DYRK1A impair enzymatic function by affecting catalytic residues or by compromising the structural integrity of the kinase domain.This article has an associated First Person interview with the first author of the paper.
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10. Williams DM, Nicholson T, Grainger C, Lind SE, Carruthers P. {{Can you spot a liar? Deception, mindreading, and the case of autism spectrum disorder}}. {Autism Res};2018 (Apr 27)
Detection of deception is of fundamental importance for everyday social life and might require « mindreading » (the ability to represent others’ mental states). People with diminished mindreading, such as those with autism spectrum disorder (ASD), might be at risk of manipulation because of lie detection difficulties. In Experiment 1, performance among 216 neurotypical adults on a realistic lie detection paradigm was significantly negatively associated with number of ASD traits, but not with mindreading ability. Bayesian analyses complemented null hypothesis significance testing and suggested the data supported the alternative hypothesis in this key respect. Cross validation of results was achieved by randomly splitting the full sample into two subsamples of 108 and rerunning analyses. The association between lie detection and ASD traits held in both subsamples, showing the reliability of findings. In Experiment 2, lie detection was significantly impaired in 27 adults with a diagnosis of ASD relative to 27 matched comparison participants. Results suggest that people with ASD (or ASD traits) may be particularly vulnerable to manipulation and may benefit from lie detection training. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Detection of deception is of fundamental importance for everyday social life. People with diminished understanding of other minds, such as those with autism spectrum disorder (ASD), might be at risk of manipulation because of lie detection difficulties. We found that lie detection ability was related to how many ASD traits neurotypical people manifested and also was significantly diminished among adults with a full diagnosis of ASD.
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11. Zuckerman KE, Lindly OJ, Reyes NM, Chavez AE, Cobian M, Macias K, Reynolds AM, Smith KA. {{Parent Perceptions of Community Autism Spectrum Disorder Stigma: Measure Validation and Associations in a Multi-site Sample}}. {J Autism Dev Disord};2018 (Apr 26)
In this study we developed a brief, English/Spanish bilingual parent-reported scale of perceived community autism spectrum disorder (ASD) stigma and tested it in a multi-site sample of Latino and non-Latino white parents of children with ASD. Confirmatory factor analysis of the scale supported a single factor solution with 8 items showing good internal consistency. Regression modeling suggested that stigma score was associated with unmet ASD care needs but not therapy hours or therapy types. Child public insurance, parent nativity, number of children with ASD in the household, parent-reported ASD severity, and family structure, were associated with higher stigma score. The scale and the scale’s associations with service use may be useful to those attempting to measure or reduce ASD stigma.
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12. Sievers SB, Trembath D, Westerveld M. {{A systematic review of predictors, moderators, and mediators of augmentative and alternative communication (AAC) outcomes for children with autism spectrum disorder}}. {Augment Altern Commun};2018 (Apr 28):1-11.
Documented variability in augmentative and alternative communication (AAC) intervention outcomes makes it difficult for clinicians to select systems most likely to be effective for individual children with autism spectrum disorder (ASD). The aim of this study was to identify child-related factors associated with AAC intervention outcomes through a systematic review of the research literature. A search was conducted of peer-reviewed research articles in which AAC intervention outcomes and associated factors were reported for children with ASD. The search yielded 965 titles and abstracts, of which seven articles relating to six studies met criteria for inclusion. In total, 18 factors were examined, of which nine were assessed as predictors (e.g., cognition, ASD severity, language use), three as moderators (e.g., joint attention, object exploration), and six as mediators (e.g., frequency of therapy, communication partner knowledge). Child characteristics associated with communication outcomes were pre-intervention cognition, severity of ASD, verbal imitation, vocabulary comprehension, object use, joint attention, language use, and two multi-dimensional measures of communication competence. This study suggests emerging evidence for predictors, but less is known about what factors moderate and mediate response to AAC interventions.
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13. Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, Kurzius-Spencer M, Zahorodny W, Robinson Rosenberg C, White T, Durkin MS, Imm P, Nikolaou L, Yeargin-Allsopp M, Lee LC, Harrington R, Lopez M, Fitzgerald RT, Hewitt A, Pettygrove S, Constantino JN, Vehorn A, Shenouda J, Hall-Lande J, Van Naarden Braun K, Dowling NF. {{Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014}}. {MMWR Surveill Summ};2018 (Apr 27);67(6):1-23.
PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2014. DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years whose parents or guardians reside within 11 ADDM sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin). ADDM surveillance is conducted in two phases. The first phase involves review and abstraction of comprehensive evaluations that were completed by professional service providers in the community. Staff completing record review and abstraction receive extensive training and supervision and are evaluated according to strict reliability standards to certify effective initial training, identify ongoing training needs, and ensure adherence to the prescribed methodology. Record review and abstraction occurs in a variety of data sources ranging from general pediatric health clinics to specialized programs serving children with developmental disabilities. In addition, most of the ADDM sites also review records for children who have received special education services in public schools. In the second phase of the study, all abstracted information is reviewed systematically by experienced clinicians to determine ASD case status. A child is considered to meet the surveillance case definition for ASD if he or she displays behaviors, as described on one or more comprehensive evaluations completed by community-based professional providers, consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for autistic disorder; pervasive developmental disorder-not otherwise specified (PDD-NOS, including atypical autism); or Asperger disorder. This report provides updated ASD prevalence estimates for children aged 8 years during the 2014 surveillance year, on the basis of DSM-IV-TR criteria, and describes characteristics of the population of children with ASD. In 2013, the American Psychiatric Association published the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), which made considerable changes to ASD diagnostic criteria. The change in ASD diagnostic criteria might influence ADDM ASD prevalence estimates; therefore, most (85%) of the records used to determine prevalence estimates based on DSM-IV-TR criteria underwent additional review under a newly operationalized surveillance case definition for ASD consistent with the DSM-5 diagnostic criteria. Children meeting this new surveillance case definition could qualify on the basis of one or both of the following criteria, as documented in abstracted comprehensive evaluations: 1) behaviors consistent with the DSM-5 diagnostic features; and/or 2) an ASD diagnosis, whether based on DSM-IV-TR or DSM-5 diagnostic criteria. Stratified comparisons of the number of children meeting either of these two case definitions also are reported. RESULTS: For 2014, the overall prevalence of ASD among the 11 ADDM sites was 16.8 per 1,000 (one in 59) children aged 8 years. Overall ASD prevalence estimates varied among sites, from 13.1-29.3 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and race/ethnicity. Males were four times more likely than females to be identified with ASD. Prevalence estimates were higher for non-Hispanic white (henceforth, white) children compared with non-Hispanic black (henceforth, black) children, and both groups were more likely to be identified with ASD compared with Hispanic children. Among the nine sites with sufficient data on intellectual ability, 31% of children with ASD were classified in the range of intellectual disability (intelligence quotient [IQ] <70), 25% were in the borderline range (IQ 71-85), and 44% had IQ scores in the average to above average range (i.e., IQ >85). The distribution of intellectual ability varied by sex and race/ethnicity. Although mention of developmental concerns by age 36 months was documented for 85% of children with ASD, only 42% had a comprehensive evaluation on record by age 36 months. The median age of earliest known ASD diagnosis was 52 months and did not differ significantly by sex or race/ethnicity. For the targeted comparison of DSM-IV-TR and DSM-5 results, the number and characteristics of children meeting the newly operationalized DSM-5 case definition for ASD were similar to those meeting the DSM-IV-TR case definition, with DSM-IV-TR case counts exceeding DSM-5 counts by less than 5% and approximately 86% overlap between the two case definitions (kappa = 0.85). INTERPRETATION: Findings from the ADDM Network, on the basis of 2014 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD among children aged 8 years in multiple communities in the United States. The overall ASD prevalence estimate of 16.8 per 1,000 children aged 8 years in 2014 is higher than previously reported estimates from the ADDM Network. Because the ADDM sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States. Consistent with reports from previous ADDM surveillance years, findings from 2014 were marked by variation in ASD prevalence when stratified by geographic area, sex, and level of intellectual ability. Differences in prevalence estimates between black and white children have diminished in most sites, but remained notable for Hispanic children. For 2014, results from application of the DSM-IV-TR and DSM-5 case definitions were similar, overall and when stratified by sex, race/ethnicity, DSM-IV-TR diagnostic subtype, or level of intellectual ability. PUBLIC HEALTH ACTION: Beginning with surveillance year 2016, the DSM-5 case definition will serve as the basis for ADDM estimates of ASD prevalence in future surveillance reports. Although the DSM-IV-TR case definition will eventually be phased out, it will be applied in a limited geographic area to offer additional data for comparison. Future analyses will examine trends in the continued use of DSM-IV-TR diagnoses, such as autistic disorder, PDD-NOS, and Asperger disorder in health and education records, documentation of symptoms consistent with DSM-5 terminology, and how these trends might influence estimates of ASD prevalence over time. The latest findings from the ADDM Network provide evidence that the prevalence of ASD is higher than previously reported estimates and continues to vary among certain racial/ethnic groups and communities. With prevalence of ASD ranging from 13.1 to 29.3 per 1,000 children aged 8 years in different communities throughout the United States, the need for behavioral, educational, residential, and occupational services remains high, as does the need for increased research on both genetic and nongenetic risk factors for ASD.
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14. Bey AL, Wang X, Yan H, Kim N, Passman RL, Yang Y, Cao X, Towers AJ, Hulbert SW, Duffney LJ, Gaidis E, Rodriguiz RM, Wetsel WC, Yin HH, Jiang YH. {{Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors}}. {Transl Psychiatry};2018 (Apr 27);8(1):94.
We previously reported a new line of Shank3 mutant mice which led to a complete loss of Shank3 by deleting exons 4-22 (Deltae4-22) globally. Deltae4-22 mice display robust ASD-like behaviors including impaired social interaction and communication, increased stereotypical behavior and excessive grooming, and a profound deficit in instrumental learning. However, the anatomical and neural circuitry underlying these behaviors are unknown. We generated mice with Shank3 selectively deleted in forebrain, striatum, and striatal D1 and D2 cells. These mice were used to interrogate the circuit/brain-region and cell-type specific role of Shank3 in the expression of autism-related behaviors. Whole-cell patch recording and biochemical analyses were used to study the synaptic function and molecular changes in specific brain regions. We found perseverative exploratory behaviors in mice with deletion of Shank3 in striatal inhibitory neurons. Conversely, self-grooming induced lesions were observed in mice with deletion of Shank3 in excitatory neurons of forebrain. However, social, communicative, and instrumental learning behaviors were largely unaffected in these mice, unlike what is seen in global Deltae4-22 mice. We discovered unique patterns of change for the biochemical and electrophysiological findings in respective brain regions that reflect the complex nature of transcriptional regulation of Shank3. Reductions in Homer1b/c and membrane hyper-excitability were observed in striatal loss of Shank3. By comparison, Shank3 deletion in hippocampal neurons resulted in increased NMDAR-currents and GluN2B-containing NMDARs. These results together suggest that Shank3 may differentially regulate neural circuits that control behavior. Our study supports a dissociation of Shank3 functions in cortical and striatal neurons in ASD-related behaviors, and it illustrates the complexity of neural circuit mechanisms underlying these behaviors.
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15. Ford TC, Apputhurai P, Meyer D, Crewther DP. {{Cluster analysis reveals subclinical subgroups with shared autistic and schizotypal traits}}. {Psychiatry Res};2018 (Apr 14);265:111-117.
Autism and schizophrenia spectrum research is typically based on coarse diagnostic classification, which overlooks individual variation within clinical groups. This method limits the identification of underlying cognitive, genetic and neural correlates of specific symptom dimensions. This study, therefore, aimed to identify homogenous subclinical subgroups of specific autistic and schizotypal traits dimensions, that may be utilised to establish more effective diagnostic and treatment practices. Latent profile analysis of subscale scores derived from an autism-schizotypy questionnaire, completed by 1678 subclinical adults aged 18-40 years (1250 females), identified a local optimum of eight population clusters: High, Moderate and Low Psychosocial Difficulties; High, Moderate and Low Autism-Schizotypy; High Psychosis-Proneness; and Moderate Schizotypy. These subgroups represent the convergent and discriminant dimensions of autism and schizotypy in the subclinical population, and highlight the importance of examining subgroups of specific symptom characteristics across these spectra in order to identify the underlying genetic and neural correlates that can be utilised to advance diagnostic and treatment practices.
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16. Sagiv SK, Harris MH, Gunier RB, Kogut KR, Harley KG, Deardorff J, Bradman A, Holland N, Eskenazi B. {{Prenatal Organophosphate Pesticide Exposure and Traits Related to Autism Spectrum Disorders in a Population Living in Proximity to Agriculture}}. {Environ Health Perspect};2018 (Apr 25);126(4):047012.
BACKGROUND: Prenatal exposure to organophosphate (OP) pesticides has been linked with poorer neurodevelopment and behaviors related to autism spectrum disorders (ASD) in previous studies, including in the Center for Health Assessment of Mothers and Children of Salinas (CHAMACOS) study, a birth cohort living in the agricultural Salinas Valley in California. OBJECTIVES: To investigate the association of prenatal exposure to OP pesticides with traits related to ASD, in childhood and adolescents in CHAMACOS. METHODS: We assessed OP exposure during pregnancy with measurements of dialkyl phosphates (DAP) metabolites in urine, and residential proximity to OP use during pregnancy using California’s Pesticide Use Reporting (PUR) data and estimated associations with ASD-related traits using linear regression models. We measured traits reported by parents and teachers as well as the child’s performance on tests that evaluate the ability to use facial expressions to recognize the mental state of others at 7, 10(1)/2, and 14 years of age. RESULTS: Prenatal DAPs were associated with poorer parent and teacher reported social behavior [e.g., a 10-fold DAP increase was associated with a 2.7-point increase (95% confidence interval (CI): 0.9, 4.5) in parent-reported Social Responsiveness Scale, Version 2, T-scores at age 14]. We did not find clear evidence of associations between residential proximity to OP use during pregnancy and ASD-related traits. CONCLUSIONS: These findings contribute mixed evidence linking OP pesticide exposures with traits related to developmental disorders like ASD. Subtle pesticide-related effects on ASD-related traits among a population with ubiquitous exposure could result in a rise in cases of clinically diagnosed disorders like ASD. https://doi.org/10.1289/EHP2580.
