Pubmed du 15/06/20

lundi 15 juin 2020

1. Arazi A, Meiri G, Danan D, Michaelovski A, Flusser H, Menashe I, Tarasiuk A, Dinstein I. Reduced sleep pressure in young children with autism. Sleep ;2020 (Jun 15) ;43(6)

STUDY OBJECTIVES : Sleep disturbances and insomnia are highly prevalent in children with Autism Spectrum Disorder (ASD). Sleep homeostasis, a fundamental mechanism of sleep regulation that generates pressure to sleep as a function of wakefulness, has not been studied in children with ASD so far, and its potential contribution to their sleep disturbances remains unknown. Here, we examined whether slow-wave activity (SWA), a measure that is indicative of sleep pressure, differs in children with ASD. METHODS : In this case-control study, we compared overnight electroencephalogram (EEG) recordings that were performed during Polysomnography (PSG) evaluations of 29 children with ASD and 23 typically developing children. RESULTS : Children with ASD exhibited significantly weaker SWA power, shallower SWA slopes, and a decreased proportion of slow-wave sleep in comparison to controls. This difference was largest during the first 2 hours following sleep onset and decreased gradually thereafter. Furthermore, SWA power of children with ASD was significantly negatively correlated with the time of their sleep onset in the lab and at home, as reported by parents. CONCLUSIONS : These results suggest that children with ASD may have a dysregulation of sleep homeostasis that is manifested in reduced sleep pressure. The extent of this dysregulation in individual children was apparent in the amplitude of their SWA power, which was indicative of the severity of their individual sleep disturbances. We, therefore, suggest that disrupted homeostatic sleep regulation may contribute to sleep disturbances in children with ASD.

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2. Bush HH, Williams LW, Mendes E. Brief Report : Asexuality and Young Women on the Autism Spectrum. J Autism Dev Disord ;2020 (Jun 13)

Existing research suggests that people with Autism Spectrum Disorder (ASD) are more likely than those without ASD to self-identify as asexual, or as being on the asexual spectrum. This study contributes to the literature by exploring aspects of sexuality and well-being in a large, community-based sample of young women (18-30 years old) with ASD (N = 247) and comparing the experiences of those with asexual spectrum identities and those with other sexual orientations (e.g., gay, bisexual, heterosexual). In the present sample, asexual participants reported less sexual desire and fewer sexual behaviors than those with other sexual orientations, but greater sexual satisfaction. Being on the asexual spectrum also was associated with lower generalized anxiety symptoms. Clinical and research implications are discussed.

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3. Byrge L, Kennedy DP. Accurate prediction of individual subject identity and task, but not autism diagnosis, from functional connectomes. Hum Brain Mapp ;2020 (Jun 15) ;41(9):2249-2262.

Despite enthusiasm about the potential for using fMRI-based functional connectomes in the development of biomarkers for autism spectrum disorder (ASD), the literature is full of negative findings-failures to distinguish ASD functional connectomes from those of typically developing controls (TD)-and positive findings that are inconsistent across studies. Here, we report on a new study designed to either better differentiate ASD from TD functional connectomes-or, alternatively, to refine our understanding of the factors underlying the current state of affairs. We scanned individuals with ASD and controls both at rest and while watching videos with social content. Using multiband fMRI across repeat sessions, we improved both data quantity and scanning duration by collecting up to 2 hr of data per individual. This is about 50 times the typical number of temporal samples per individual in ASD fcMRI studies. We obtained functional connectomes that were discriminable, allowing for near-perfect individual identification regardless of diagnosis, and equally reliable in both groups. However, contrary to what one might expect, we did not consistently or robustly observe in the ASD group either reductions in similarity to TD functional connectivity (FC) patterns or shared atypical FC patterns. Accordingly, FC-based predictions of diagnosis group achieved accuracy levels around chance. However, using the same approaches to predict scan type (rest vs. video) achieved near-perfect accuracy. Our findings suggest that neither the limitations of resting state as a "task," data resolution, data quantity, or scan duration can be considered solely responsible for failures to differentiate ASD from TD functional connectomes.

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4. Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biol Psychiatry ;2020 (Jun 15) ;87(12):1035-1044.

BACKGROUND : Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants. METHODS : We performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios. We estimated the contribution of DN mutations to OCD risk and the number of genes involved. Finally, we looked for gene enrichment in other datasets and canonical pathways. RESULTS : DN likely gene disrupting and predicted damaging missense variants are enriched in OCD probands (rate ratio, 1.52 ; p = .0005) and contribute to risk. We identified 2 high-confidence risk genes, each containing 2 DN damaging variants in unrelated probands : CHD8 and SCUBE1. We estimate that 34% of DN damaging variants in OCD contribute to risk and that DN damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring DN damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette’s disorder and autism spectrum disorder. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways, biological processes, and disease networks. CONCLUSIONS : Our findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants. Sequencing larger cohorts of OCD parent-child trios will reveal more OCD risk genes and will provide needed insights into underlying disease biology.

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5. Chown N, Leatherland J. Can a Person be ’A Bit Autistic’ ? A Response to Francesca Happé and Uta Frith. J Autism Dev Disord ;2020 (Jun 13)

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6. Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. AAV-mediated FOXG1 gene editing in human Rett primary cells. Eur J Hum Genet ;2020 (Jun 15)

Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset of regression, Rett-like and jerky movements, and cortical visual impairment. Due to the largely unknown pathophysiological mechanisms downstream the impairment of this transcriptional regulator, a specific treatment is not yet available. Since both haploinsufficiency and hyper-expression of FOXG1 cause diseases in humans, we reasoned that adding a gene under nonnative regulatory sequences would be a risky strategy as opposed to a genome editing approach where the mutated gene is reversed into wild-type. Here, we demonstrate that an adeno-associated viruses (AAVs)-coupled CRISPR/Cas9 system is able to target and correct FOXG1 variants in patient-derived fibroblasts, induced Pluripotent Stem Cells (iPSCs) and iPSC-derived neurons. Variant-specific single-guide RNAs (sgRNAs) and donor DNAs have been selected and cloned together with a mCherry/EGFP reporter system. Specific sgRNA recognition sequences were inserted upstream and downstream Cas9 CDS to allow self-cleavage and inactivation. We demonstrated that AAV serotypes vary in transduction efficiency depending on the target cell type, the best being AAV9 in fibroblasts and iPSC-derived neurons, and AAV2 in iPSCs. Next-generation sequencing (NGS) of mCherry(+)/EGFP(+) transfected cells demonstrated that the mutated alleles were repaired with high efficiency (20-35% reversion) and precision both in terms of allelic discrimination and off-target activity. The genome editing strategy tested in this study has proven to precisely repair FOXG1 and delivery through an AAV9-based system represents a step forward toward the development of a therapy for Rett syndrome.

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7. Dwyer P, Wang X, De Meo-Monteil R, Hsieh F, Saron CD, Rivera SM. Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses. Mol Autism ;2020 (Jun 15) ;11(1):48.

BACKGROUND : Autistic individuals exhibit atypical patterns of sensory processing that are known to be related to quality of life, but which are also highly heterogeneous. Previous investigations of this heterogeneity have ordinarily used questionnaires and have rarely investigated sensory processing in typical development (TD) alongside autism spectrum development (ASD). METHODS : The present study used hierarchical clustering in a large sample to identify subgroups of young autistic and typically developing children based on the normalized global field power (GFP) of their event-related potentials (ERPs) to auditory stimuli of four different loudness intensities (50, 60, 70, 80 dB SPL) : that is, based on an index of the relative strengths of their neural responses across these loudness conditions. RESULTS : Four clusters of participants were defined. Normalized GFP responses to sounds of different intensities differed strongly across clusters. There was considerable overlap in cluster assignments of autistic and typically developing participants, but autistic participants were more likely to display a pattern of relatively linear increases in response strength accompanied by a disproportionately strong response to 70 dB stimuli. Autistic participants displaying this pattern trended towards obtaining higher scores on assessments of cognitive abilities. There was also a trend for typically developing participants to disproportionately fall into a cluster characterized by disproportionately/nonlinearly strong 60 dB responses. Greater auditory distractibility was reported among autistic participants in a cluster characterized by disproportionately strong responses to the loudest (80 dB) sounds, and furthermore, relatively strong responses to loud sounds were correlated with auditory distractibility. This appears to provide evidence of coinciding behavioral and neural sensory atypicalities. LIMITATIONS : Replication may be needed to verify exploratory results. This analysis does not address variability related to classical ERP latencies and topographies. The sensory questionnaire employed was not specifically designed for use in autism. Hearing acuity was not measured. Variability in sensory responses unrelated to loudness is not addressed, leaving room for additional research. CONCLUSIONS : Taken together, these data demonstrate the broader benefits of using electrophysiology to explore individual differences. They illuminate different neural response patterns and suggest relationships between sensory neural responses and sensory behaviors, cognitive abilities, and autism diagnostic status.

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8. Gallyer AJ, Stanley IH, Day TN, Joiner TE. Examining the interaction of autism spectrum disorder-related traits and unit cohesion on suicide risk among military personnel. J Affect Disord ;2020 (Jun 15) ;271:59-65.

BACKGROUND : Suicide rates are elevated among United States (U.S.) military service members. Research has found that service members with autism spectrum disorder-related (ASD-related) traits are at increased risk for suicide. Complementary lines of inquiry have suggested that unit cohesion is a protective factor against developing suicidal ideation in military service members. However, given the social difficulties inherent in ASD, it is unclear whether unit cohesion might protect against suicide risk in this population. METHOD : Our sample consisted of 285 active duty U.S. military service members recruited online. We examined the interaction between ASD-related traits (as measured by the Autism Spectrum Quotient [AQ]), unit cohesion, and suicide risk (as measured by the Suicidal Behaviors Questionnaire-Revised [SBQ-R]). We also conducted exploratory analyses to examine whether unit cohesion attenuates the association between ASD-related traits and suicidal intent. RESULTS : Elevated ASD-related traits were independently associated with higher levels of global suicide risk ; however, unit cohesion was not independently associated with suicide risk. Unit cohesion did not significantly interact with ASD-related traits to predict suicide risk. Finally, we found that elevated ASD-related traits and unit cohesion have an independent effect on current suicidal intent. DISCUSSION : Our findings suggest that unit cohesion might not buffer the effect of ASD-related traits on suicide risk. However, our results do show that greater unit cohesion may be independently associated with decreased suicidal intent. This study is limited by a cross-sectional design and use of self-report measures.

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9. Gauthier-Boudreault C, Gallagher F, Trépanier J, Corbin F, Couture M. Factors impacting the transition to adulthood of youth with fragile X syndrome and their families : Facilitators, obstacles and needs. Res Dev Disabil ;2020 (Jun 11) ;103:103674.

BACKGROUND : The transition from school to adulthood is a critical time for families of youth with disabilities. Few studies have focused on the needs of families of youths with fragile X syndrome. This syndrome is often associated with intellectual disability and autism spectrum disorder, which creates specific needs that must be documented to improve transition planning. The aim of the current study was to document factors impacting transition planning and describe parents’ experiences during this period. METHOD : Individual interviews were conducted with thirteen parents of young people with fragile X syndrome. Two research team members analysed the interviews separately. RESULTS : Factors related to the youth, the youth’s family and the steps taken by the various institutions involved during this period seem to impact this transition and contributed to families’ anxiety. A clear, uniform transition planning process, initiated early enough to have time for exploratory work placements, and gradual integration emerged as crucial facilitators for the parents in this study. CONCLUSIONS : Understanding the reality of people with fragile X syndrome and their families will help to adapt services and develop concrete plans for their future.

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10. Gonatopoulos-Pournatzis T, Blencowe BJ. Microexons : at the nexus of nervous system development, behaviour and autism spectrum disorder. Curr Opin Genet Dev ;2020 (Jun 11) ;65:22-33.

The discovery and characterization of a network of highly conserved neuronal microexons have provided fundamental new insight into mechanisms underlying nervous system development and function, as well as an important basis for pathway convergence in autism spectrum disorder. In the past few years, considerable progress has been made in comprehensively determining the repertoires of factors that control neuronal microexons. These results have illuminated molecular mechanisms that activate the splicing of microexons, including those that control gene expression programs critical for neurogenesis, as well as synaptic protein translation and neuronal activity. Remarkably, individual disruption of specific microexons in these pathways results in autism-like phenotypes and cognitive impairment in mice. This review discusses these findings and their implications for delivering new therapeutic strategies for neurological disorders.

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11. Herrmann L, Bindt C, Schweizer K, Micheel J, Nieder TO, Haaß J, Schöttle D, Becker-Hebly I. [Autism Spectrum Disorders and Gender Dysphoria Among Children and Adolescents : Systematic Review on the Co-Occurrence]. Psychiatr Prax ;2020 (Jun 15)

OBJECTIVE : The review systematically reviews the literature on co-occurring gender dysphoria/gender variance and autism spectrum disorder among children and adolescents. METHODS : A systematic literature search was conducted for the years 1946 to December 2018. RESULTS : 144 publications could be identified in the literature search. Out of these, 22 publications met the inclusion criteria for the systematic review. 4.7 to 13.3 % of the children and adolescents with primarily diagnosed gender dysphoria/variance examined in the studies also had an autism diagnosis. In samples of children and adolescents with primarily diagnosed autism gender variance was overrepresented with a prevalence of 4 to 6.5 %. CONCLUSION : The results of the systematic review point towards an overrepresentation of co-occurring gender dysphoria/variance and autism spectrum disorder. Methodological and clinical implications are discussed.

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12. Hong T, Falcone C, Dufour B, Amina S, Castro RP, Regalado J, Pearson W, Noctor SC, Martínez-Cerdeño V. GABA(A)Rα2 is Decreased in the Axon Initial Segment of Pyramidal Cells in Specific Areas of the Prefrontal Cortex in Autism. Neuroscience ;2020 (Jun 15) ;437:76-86.

Some forms of Autism Spectrum Disorder, a neurodevelopmental syndrome characterized by impaired communication and social skills as well as repetitive behaviors, are purportedly associated with dysregulation of the excitation/inhibition balance in the cerebral cortex. Through human postmortem tissue analysis, we previously found a significant decrease in the number of a gamma-aminobutyric acid (GABA)ergic interneuron subtype, the chandelier (Ch) cell, in the prefrontal cortex of subjects with autism. Ch cells exclusively target the axon initial segment (AIS) of excitatory pyramidal (Pyr) neurons, and a single Ch cell forms synapses on hundreds of Pyr cells, indicating a possible role in maintaining electrical balance. Thus, we herein investigated this crucial link between Ch and Pyr cells in the anatomy of autism neuropathology by examining GABA receptor protein expression in the Pyr cell AIS in subjects with autism. We collected tissue from the prefrontal cortex (Brodmann Areas (BA) 9, 46, and 47) of 20 subjects with autism and 20 age- and sex-matched control subjects. Immunohistochemical staining with antibodies against the GABA(A) receptor subunit α2 (GABA(A)Rα2) - the subunit most prevalent in the Pyr cell AIS - revealed a significantly decreased GABA(A)Rα2 protein in the Pyr cell AIS in supragranular layers of prefrontal cortical areas BA9 and BA47 in autism. Downregulated GABA(A)Rα2 protein in the Pyr cell AIS may result from decreased GABA synthesis in the prefrontal cortex of subjects with autism, and thereby contribute to an excitation/inhibition imbalance. Our findings support the potential for GABA receptor agonists asa therapeutic tool for autism.

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13. Hughes JA. Does the heterogeneity of autism undermine the neurodiversity paradigm ?. Bioethics ;2020 (Jun 15)

The neurodiversity paradigm is presented by its proponents as providing a philosophical foundation for the activism of the neurodiversity movement. Its central claims are that autism and other neurodivergent conditions are not disorders because they are not intrinsically harmful, and that they are valuable, natural and/or normal parts of human neurocognitive variation. This paper : (a) identifies the non-disorder claim as the most central of these, based on its prominence in the literature and connections with the practical policy claims that the paradigm is supposed to support ; (b) describes the heterogeneity of autism at the behavioural and causal levels, and argues that at the behavioural level this encompasses ways of being autistic that are harmful in ways that cannot be not wholly attributed to discrimination or unjust social arrangements, challenging the claim that autism is not a disorder ; (c) considers and rejects responses to this challenge based on separation of high- and low-functioning autism, separation of autism from co-occurring conditions, and viewing autism as part of an individual’s identity. Two of these responses fail for reasons that are themselves connected with the behavioural and/or causal heterogeneity of autism.

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14. Kim SH. Decomposing Heterogeneity in Autism Spectrum Disorder Through Neurosubtyping. Biol Psychiatry ;2020 (Jun 15) ;87(12):e37-e38.

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15. Mansouri M, Pouretemad H, Roghani M, Wegener G, Ardalan M. Autistic-Like Behaviours and Associated Brain Structural Plasticity are Modulated by Oxytocin in Maternally Separated Rats. Behav Brain Res ;2020 (Jun 11):112756.

BACKGROUND : Early psycho-social experiences influence the developing brain and possible onset of various neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD). ASD is characterized by a variety of brain abnormalities, including alteration of oxytocin receptors in the brain. Recently, early life adverse experiences, such as maternal separation (MS), have been shown to constitute risk factors for ASD in preclinical studies. Therefore, the main aims of the current study were to i) explore the association between onset of autistic-like behaviours and molecular/structural changes in the brain following MS, and ii) evaluate the possible beneficial effects of oxytocin treatment on the same parameters. METHOD AND MATERIAL : Male rats were exposed to the maternal separation from post-natal day (PND) 1 to PND14. After weaning, daily injections of oxytocin (1 mg/kg, ip) were administered (PND22-30), followed by examination of autism-related behaviours at adolescence (PND 42-50). Brain structural plasticity was examined using stereological methods, and the plasma level of brain derived neurotrophic factor (BDNF) was analysed using ELISA. RESULTS : We found that maternal separation induced autistic-like behaviours, which was associated with increase in the hippocampal CA1 stratum radiatum (CA1.SR) volume. In addition, we observed increase in the infralimbic brain region volume and in the number of the pyramidal neurons in the same brain region. Maternal separation significantly increased the plasma BDNF levels. Treatment with oxytocin improved autistic like behaviours, normalized the number of neurons and the volume of the infralimbic region as well as the plasma BDNF level (p < 0.05). CONCLUSION : Maternal separation induced autistic-like behaviours, brain structural impairment together with plasma BDNF level abnormality, which could be improved by oxytocin treatment.

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16. Musio A. The multiple facets of the SMC1A gene. Gene ;2020 (Jun 15) ;743:144612.

Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization ; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) threonine/serine kinases. It is also a component of the Recombination protein complex (RC-1) involved in DNA repair by recombination. SMC1A pathogenic variants have been described in Cornelia de Lange syndrome (CdLS), a human rare disease, and recently SMC1A variants have been associated with epilepsy or resembling Rett syndrome phenotype. Finally, SMC1A variants have been identified in several human cancers. In this review, our current knowledge of the SMC1A gene has been summarized.

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17. Pellegrino AJ, DiGennaro Reed FD. Using telehealth to teach valued skills to adults with intellectual and developmental disabilities. J Appl Behav Anal ;2020 (Jun 15)

Telehealth uses electronic information and telecommunication technologies to deliver long-distance clinical services. It has successfully been used by clinical professionals to teach family and staff members to provide evidence-based assessment and treatment procedures. There is no research to date, however, evaluating the use of telehealth to directly teach individuals with intellectual and developmental disabilities (IDD). Thus, we evaluated the efficacy of a telehealth intervention using total task chaining with least-to-most prompting delivered via videoconference to 2 adults with IDD. Both participants demonstrated low independent responding during baseline with enhanced written instructions present. During intervention, which included vocal and model prompting, both participants met the mastery criterion for each skill in fewer than 15 sessions, which maintained after 2 weeks. Finally, both participants expressed satisfaction with the goals, procedures, and effects of the intervention. We discuss the broader scope of the intervention for individuals with disabilities when face-to-face services may not be feasible.

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18. Rosen CL, Aurora RN, Kapur VK, Ramos AR, Rowley JA, Troester MM, Zak RS. Supporting American Academy of Neurology’s new clinical practice guideline on evaluation and management of insomnia in children with autism. J Clin Sleep Med ;2020 (Jun 15) ;16(6):989-990.

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19. Stokholm L, Juhl M, Talge NM, Gissler M, Obel C, Strandberg-Larsen K. Obstetric oxytocin exposure and ADHD and ASD among Danish and Finnish children. Int J Epidemiol ;2020 (Jun 14)

BACKGROUND : Some studies have indicated an increased risk of attention deficit hyperactivity disorder (ADHD) and a small, sex-specific association with autism spectrum disorder (ASD) among children prenatally exposed to obstetric oxytocin. Since oxytocin is widely used in the obstetric ward, these potentially deleterious effects are of concern. Thus, we aimed to examine whether obstetric oxytocin treatment for labour induction or augmentation is associated with ADHD and ASD in offspring born in a two-country design based on data from Denmark and Finland. METHODS : This population-based study used data from national registers in Denmark and Finland. Singletons born in Denmark 2000-10 (n = 577 380) and Finland 1991-2010 (n = 945 543), who survived infancy, were followed until 31 December 2015. ADHD and ASD were defined using diagnostic codes. For ADHD, we also included information on prescribed and redeemed ADHD medication in the definition. Hazards ratios (HRs) with 95% confidence intervals (CI), modelled with age as the underlying time scale, were calculated to estimate the associations. RESULTS : Oxytocin was used in 31% and 46% of the included deliveries in Denmark and Finland, respectively. In crude analyses, prenatal oxytocin was associated with an approximately 20% increased risk of ADHD and ASD, but confounder adjustment attenuated the association. The adjusted HR was 1.03, 95% CI 1.01-1.05, for ADHD and 1.05, 95% CI 1.02-1.08, for ASD. The results were similar in across country and gender. CONCLUSIONS : We found an association between synthetic oxytocin and ADHD or ASD which is unlikely to reflect a causal association and thus should not support the concern of clinical use. Our results help to allay concerns of obstetric use of oxytocin causing ADHD or ASD.

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20. Tang S, Sun N, Floris DL, Zhang X, Di Martino A, Yeo BTT. Reconciling Dimensional and Categorical Models of Autism Heterogeneity : A Brain Connectomics and Behavioral Study. Biol Psychiatry ;2020 (Jun 15) ;87(12):1071-1082.

BACKGROUND : Heterogeneity in autism spectrum disorder (ASD) has hindered the development of biomarkers, thus motivating subtyping efforts. Most subtyping studies divide individuals with ASD into nonoverlapping (categorical) subgroups. However, continuous interindividual variation in ASD suggests that there is a need for a dimensional approach. METHODS : A Bayesian model was employed to decompose resting-state functional connectivity (RSFC) of individuals with ASD into multiple abnormal RSFC patterns, i.e., categorical subtypes, henceforth referred to as "factors." Importantly, the model allowed each individual to express one or more factors to varying degrees (dimensional subtyping). The model was applied to 306 individuals with ASD (5.2-57 years of age) from two multisite repositories. Post hoc analyses associated factors with symptoms and demographics. RESULTS : Analyses yielded three factors with dissociable whole-brain hypo- and hyper-RSFC patterns. Most participants expressed multiple (categorical) factors, suggestive of a mosaic of subtypes within individuals. All factors shared abnormal RSFC involving the default mode network, but the directionality (hypo- or hyper-RSFC) differed across factors. Factor 1 was associated with core ASD symptoms. Factors 1 and 2 were associated with distinct comorbid symptoms. Older male participants preferentially expressed factor 3. Factors were robust across control analyses and were not associated with IQ or head motion. CONCLUSIONS : There exist at least three ASD factors with dissociable whole-brain RSFC patterns, behaviors, and demographics. Heterogeneous default mode network hypo- and hyper-RSFC across the factors might explain previously reported inconsistencies. The factors differentiated between core ASD and comorbid symptoms-a less appreciated domain of heterogeneity in ASD. These factors are coexpressed in individuals with ASD with different degrees, thus reconciling categorical and dimensional perspectives of ASD heterogeneity.

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