1. Carpita B, Cremone IM, Amatori G, Cappelli A, Salerni A, Massimetti G, Borgioli D, Carmassi C, Massai R, Dell’Osso L. Investigating the relationship between orthorexia nervosa and autistic traits in a university population. CNS spectrums. 2021: 1-8.

BACKGROUND: Orthorexia nervosa (ON) is an emerging condition featuring restrictive eating behaviors on the basis of subjective beliefs about food healthiness. Many authors have stressed the similarities between ON and anorexia nervosa (AN) in both cognitive and behavioral patterns. Despite that, while the link between AN and female autism presentations is well known in the literature, no study has yet investigated the relationship between ON and autism spectrum. This work aims to investigate the relationship between ON and autistic traits in a university population. METHODS: An e-mail invitation was sent to all the students and University workers of University of Pisa. Subjects were asked to fulfill the ORTO-15 and the Adult Autism Subthreshold spectrum (AdAS spectrum) questionnaires. RESULTS: A total of 2426 subjects joined the survey: 623 subjects (26.3%) reported a score associated with significant orthorexic symptoms according to ORTO-15 (ON group), while 1789 subjects (73.7%) did not report ON symptomatology and were considered as healthy controls (HC). The ON group scored significantly higher on almost all AdAS spectrum domains. Moreover, being female and scoring higher on AdAS spectrum were statistically predictive factors for the presence of ON symptomatology. Among AdAS spectrum domains, higher scores on AdAS spectrum inflexibility and adherence to routine and restricted interests and rumination domains, as well as lower scores on verbal communication domain, were statistically predictive of orthorexic symptoms. CONCLUSIONS: Our findings highlight an overlap between ON and autism spectrum psychopathology. Further studies are needed to clarify the relationship between restrictive eating disorders and female autism phenotypes.

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2. Christakis DA. More on Epidurals and Autism. JAMA pediatrics. 2021; 175(7): 705.

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3. de Andrade Wobido K, de Sá Barreto da Cunha M, Miranda SS, da Mota Santana J, da Silva DCG, Pereira M. Non-specific effect of omega-3 fatty acid supplementation on autistic spectrum disorder: systematic review and meta-analysis. Nutritional neuroscience. 2021: 1-13.

METHODS: We searched seven databases and found 13 eligible controlled trials that use omega-3 supplementation in children and adolescents with ASD.Data extraction: We collected details on study design, intervention time, supplement dosage, and the autism assessment scale. Meta-analyses and subgroup analysis were conducted according to the autism symptoms. RESULTS: Omega-3 and omega-6 supplementation improved ASD symptoms according to the Aberrant Behavior Checklist (standard mean difference – SMD = -0.13; CI 95% = -0.34, -0.02). However, using subgroup analysis, we observed no efficacy in terms of improvements in hyperactivity (SMD = -0.03; CI 95%: -0.43, 0.36), irritability (SMD = -0.18; CI 95%: -0.51, 0.15), stereotypy (SMD = -0.03; CI 95%: -0.43, 0.36), inappropriate speech (SMD = -0.68; CI 95%: -1.49, 0.14), lethargy (SMD = -0.22; CI 95%: -0.58, 0.14), and social function (SMD = -0.71; IC 95%: -1.56, 0.14). W-3 and w-6 supplementation also showed no efficacy according to the Social Responsiveness Scale (SMD = 0.08; CI 95%: -0.23, 0.39). The adverse effects were classified as mild and equally distributed between the placebo and intervention groups. CONCLUSIONS: Despite w-3 and w-6 supplementation showing minimal beneficial effects in the treatment of autism, the subgroup analyses indicated that there is a lack of evidence on the beneficial role of w-3 and w-6 in treating ASD.Systematic Review Registration: PROSPERO number CRD42020146116.

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4. El Khouri E, Ghoumid J, Haye D, Giuliano F, Drevillon L, Briand-Suleau A, De La Grange P, Nau V, Gaillon T, Bienvenu T, Jacquemin-Sablon H, Goossens M, Amselem S, Giurgea I. Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders. Molecular psychiatry. 2021; 26(7): 3572-85.

Among the genetic factors playing a key role in the etiology of intellectual disabilities (IDs) and autism spectrum disorders (ASDs), several encode RNA-binding proteins (RBPs). In this study, we deciphered the molecular and cellular bases of ID-ASD in a patient followed from birth to the age of 21, in whom we identified a de novo CSDE1 (Cold Shock Domain-containing E1) nonsense variation. CSDE1 encodes an RBP that regulates multiple cellular pathways by monitoring the translation and abundance of target transcripts. Analyses performed on the patient’s primary fibroblasts showed that the identified CSDE1 variation leads to haploinsufficiency. We identified through RNA-seq assays the Wnt/β-catenin signaling and cellular adhesion as two major deregulated pathways. These results were further confirmed by functional studies involving Wnt-specific luciferase and substrate adhesion assays. Additional data support a disease model involving APC Down-Regulated-1 (APCDD1) and cadherin-2 (CDH2), two components of the Wnt/β-catenin pathway, CDH2 being also pivotal for cellular adhesion. Our study, which relies on both the deep phenotyping and long-term follow-up of a patient with CSDE1 haploinsufficiency and on ex vivo studies, sheds new light on the CSDE1-dependent deregulated pathways in ID-ASD.

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5. Fombonne E, Zuckerman KE. Clinical Profiles of Black and White Children Referred for Autism Diagnosis. Journal of autism and developmental disorders. 2022; 52(3): 1120-30.

Black children with autism are diagnosed at an older age. Whether or not late detection is paralleled by differing clinical presentation is not known. We evaluated symptom profiles of 245 Black and 488 sex- and age-matched White non-Hispanic participants (82.8% male; mean age: 4.2 years) referred for ASD diagnosis. Both groups showed similar overall levels of autistic symptoms. Black children had significantly but slightly lower scores on cognitive tests and on the Vineland communication domain than White children. Groups were comparable on internalizing and externalizing co-occurring problems. Given the largely similar clinical profiles, clinical differences in initial presentation may not be a primary reason for Black/White disparities in diagnostic and services use. Limitations of a cross-sectional referred sample are acknowledged.

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6. Freischmidt A, Goswami A, Limm K, Zimyanin VL, Demestre M, Glaß H, Holzmann K, Helferich AM, Brockmann SJ, Tripathi P, Yamoah A, Poser I, Oefner PJ, Böckers TM, Aronica E, Ludolph AC, Andersen PM, Hermann A, Weis J, Reinders J, Danzer KM, Weishaupt JH. A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis. Brain : a journal of neurology. 2021; 144(4): 1214-29.

Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in most ALS cases. Previously, we identified serum microRNAs downregulated in familial ALS, the majority of sporadic ALS patients, but also in presymptomatic mutation carriers. A 5-nucleotide sequence motif (GDCGG; D = G, A or U) was strongly enriched in these ALS-related microRNAs. We hypothesized that deregulation of protein(s) binding predominantly to this consensus motif was responsible for the ALS-linked microRNA fingerprint. Using microRNA pull-down assays combined with mass spectrometry followed by extensive biochemical validation, all members of the fragile X protein family, FMR1, FXR1 and FXR2, were identified to directly and predominantly interact with GDCGG microRNAs through their structurally disordered RGG/RG domains. Preferential association of this protein family with ALS-related microRNAs was confirmed by in vitro binding studies on a transcriptome-wide scale. Immunohistochemistry of lumbar spinal cord revealed aberrant expression level and aggregation of FXR1 and FXR2 in C9orf72- and FUS-linked familial ALS, but also patients with sporadic ALS. Further analysis of ALS autopsies and induced pluripotent stem cell-derived motor neurons with FUS mutations showed co-aggregation of FXR1 with FUS. Hence, our translational approach was able to take advantage of blood microRNAs to reveal CNS pathology, and suggests an involvement of the fragile X-related proteins in familial and sporadic ALS already at a presymptomatic stage. The findings may uncover disease mechanisms relevant to many patients with ALS. They furthermore underscore the systemic, extra-CNS aspect of ALS.

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7. Greenlee JL, Stelter CR, Piro-Gambetti B, Hartley SL. Trajectories of Dysregulation in Children with Autism Spectrum Disorder. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2021; 50(6): 858-73.

Objective: This study determined whether child and family environment factors are associated with differences in developmental trajectories of emotional and behavioral dysregulation in children with autism spectrum disorder (ASD).Method: Participants included 186 families of a child with ASD (5-12 years old at baseline; 86% male; 83% non-Hispanic Caucasian; 35% comorbid intellectual disability). At each of the four time points (each spaced 12 months apart), mothers and fathers within each family completed well-validated measures on their own mental health, their child’s dysregulation, their parent-child relationship, and their parent couple relationship. Longitudinal multi-level modeling was used to describe trajectories of dysregulation across 3 years and test whether parent depression, closeness in the parent-child relationship, and positive parent dyadic coping were associated with differences in child trajectories.Results: On average, child dysregulation decreased across time. Closer mother-child and father-child relationship quality was associated with lower baseline dysregulation. More severe child restricted and repetitive behaviors, fewer maternal depression symptoms, and more positive parent dyadic coping were associated with declines in child dysregulation over time.Conclusions: On average, children with ASD become less dysregulated across time. However, there is important variability in dysregulation trajectories of children with ASD. Children with ASD who have a high (versus low) severity of restricted and repetitive behaviors appear to be at risk for greater dysregulation. The family environment, and specifically a closer parent-child relationship, better maternal mental health, and more positive couple coping, may contribute to a pattern of improved child regulation across time in ASD.

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8. Hanley GE, Ip A, Oberlander TF. Epidural Analgesia and Autism Spectrum Disorder Risk-The Challenges Inherent in Complex Observational Research. JAMA pediatrics. 2021; 175(7): 675-7.

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9. Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW. Clinical delineation of SETBP1 haploinsufficiency disorder. European journal of human genetics : EJHG. 2021; 29(8): 1198-205.

SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits, and hyperactivity. Although there is a mild overlap in certain facial features, the disorder does not lead to a distinctive recognizable facial gestalt. As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this reports puts forward care recommendations for patient management.

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10. Kaur H, Panigrahi I. Chung-Jansen Syndrome with obesity. Obesity research & clinical practice. 2021; 15(3): 303-5.

Chung-Jansen Syndrome is a recently identified obesity syndrome, characteristic clinical features of which are global developmental delay, intellectual disability, obesity and dysmorphism (DIDOD). We present a child with the syndrome who also had hypothyroidism and renal involvement in form of small kidneys on one side. The next generation sequencing done in the child showed a nonsense variant in the PHIP gene leading to premature chain termination in the protein on bioinformatic analysis.

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11. Kleck CJ, Noshchenko A, Burger EL, Cain CMJ, Patel VV. Postoperative pelvic incidence (PI) change may impact sagittal spinopelvic alignment (SSA) after instrumented surgical correction of adult spine deformity (ASD). Spine deformity. 2021; 9(4): 1093-104.

OBJECTIVES: To study factors causing postoperative change of PI after surgical correction of ASD and to assess the effect of this variability on postoperative PI-LL mismatch. BACKGROUND: PI is used as an individual constant to define lumbar lordosis (LL) correction goal (PI-LL < 10). Postoperative changes of PI were shown but with opposite vectors. The impact of the PI variability on the postoperative PI-LL has not been studied. METHODS: The medical and radiographic data analyzed for patients who underwent long posterior instrumented spinal fusion. Inclusion criteria are age, ≥ 20 years old; ASD due to degenerative disk disease (DDD) or scoliosis (DS); ≥ 3 levels fused; and 2-year follow-up or revision. Studied parameters are LL (L1-S1), PI, sacral slope (SS), pelvic tilt (PT), and PI-LL. Measurement error and postoperative changes were defined. Statistical analysis includes ANOVA, correlation, regression, and risk assessment by odds ratio; P ≤ 0.05 considered statistically significant. RESULTS: Eighty patients were included: mean age, 62.4 years-old (SD, 11.1); female, 63.7%; mean body mass index (BMI), 27.1 (SD, 5.6). Distribution of patients by follow-ups includes preoperative 100%; postoperative (1-3 weeks), 100%; 11-13 months. 90%; 22-26 months, 58%; and revision: 24%. Pre- versus postoperative PI (∆PI) changed both positively and negatively and the absolute value of change|∆PI| exceeded measurement error (P ≤ 0.05) reaching as high as 31°, and progressed with time; R(2) dropped from 0.73 to 0.45 (P < 0.001); ∆PI depended on disproportional changes of SS and PT, preoperative PI, and change of LL. Obesity, DS, and absence of sacroiliac fixation increased |∆PI|. The risk of LL insufficient correction (PI-LL > 10°) associated with a |∆PI|> 6°, P = 0.05. Sacroiliac fixation diminished PI variability only during the first postoperative year. CONCLUSION: Preoperative variability and postoperative instability of PI diminish the applicability of the PI-LL < 10° goal to plan correction of LL. An alternative method is offered. LEVEL OF EVIDENCE: IV.

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12. Krieger I, Grossman-Giron A, Comaneshter D, Weinstein O, Kridin K, Cohen AD, Tzur Bitan D. The co-occurrence of autistic spectrum disorder and schizophrenia: A nationwide population-based study. Journal of psychiatric research. 2021; 138: 280-3.

Although the co-occurrence of autistic spectrum disorder (ASD) and schizophrenia have been previously reported, the scope and magnitude of this comorbidity across large samples have not been sufficiently established. This study was aimed to assess the co-occurrence between schizophrenia and ASD in a large dataset, and to examine its predominance across different age and sex groups. Schizophrenia patients and age and sex frequency controls (n = 49,334) were assessed for the prevalence of autism spectrum disorder. The sample was stratified by age and sex, and co-occurrence was assessed using univariate and multivariate logistic regressions. Results indicated that schizophrenia was associated with ASD (OR = 7.01, 95%CI 2.98-16.43, p < .0001) across all age groups aside from 50 to 70 years. This association was significant among male participants (OR = 11.69, 95%CI 3.59-38.01, p < .0001) but not among female participants (OR = 2.33, 95%CI 0.60-9.03, p = .21). These findings indicate a large overlap between schizophrenia and ASD, and point to the need to expand the understanding of the potential mediating mechanisms of this co-occurrence.

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13. Lin HC, Cheng CM, Huang KL, Hsu JW, Bai YM, Tsai SJ, Chen TJ, Chen MH. Developmental and mental health risks among siblings of patients with autism spectrum disorder: a nationwide study. European child & adolescent psychiatry. 2021.

Studies have suggested that unaffected siblings of patients with autism spectrum disorder (ASD) have some other neurodevelopmental abnormalities. However, the risks of mental and developmental disorders have rarely been investigated among unaffected siblings. Using Taiwan’s National Health Insurance Research Database, 1304 unaffected siblings born between 1980 and 2010 with ASD probands and 13,040 age-/sex-/family structure-matched controls were included in our study and followed up from 1996 or birth to the end of 2011. Developmental delay, language delay, developmental coordination disorder, attention-deficit hyperactivity disorder (ADHD), anxiety disorders, disruptive behavior disorders, unipolar disorder, and bipolar disorder were identified during the follow-up period. Unaffected siblings were more likely to develop any developmental delay, developmental speech or language disorder, developmental coordination disorder, intelligence disability, ADHD, anxiety disorders, unipolar depression, and disruptive behavior disorders compared with the control group. Brothers of patients with ASD had a higher risk of neurodevelopmental abnormalities, ADHD, anxiety disorders, and disruptive behavior disorders; sisters were prone to having neurodevelopmental abnormalities, ADHD, anxiety disorders, unipolar depression, and disruptive behavior disorders. Unaffected siblings of patients with ASD were prone to developing any developmental or mental disorder later in life. Clinicians and public health officials should pay more attention to the developmental condition and mental health of unaffected siblings of patients with ASD.

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14. Nahal P, Hurd PL, Read S, Crespi B. Cognitive Empathy as Imagination: Evidence From Reading the Mind in the Eyes in Autism and Schizotypy. Frontiers in psychiatry. 2021; 12: 665721.

How is cognitive empathy related to sociality, imagination, and other psychological constructs? How is it altered in disorders of human social cognition? We leveraged a large data set (1,168 students, 62% female) on the Reading the Mind in the Eyes test (RMET), the Autism Quotient (AQ), and the Schizotypal Personality Questionnaire (SPQ-BR) to test the hypotheses that the RMET, as a metric of cognitive empathy, reflects mainly social abilities, imagination, or both. RMET showed the expected female bias in performance, though only for eyes that expressed emotions and not for neutral expressions. RMET performance was significantly, and more strongly, associated with the AQ and SPQ subscales that reflect aspects of imagination (AQ-Imagination and SPQ-Magical Ideation) than aspects of social abilities (AQ-Social, AQ-Communication, and SPQ-Interpersonal subscales). These results were confirmed with multiple regression analysis, which also implicated increased attention (AQ-Attention Switching and, marginally non-significantly, AQ-Attention to Detail) in RMET performance. The two imagination-related correlates of RMET performance also show the strongest sex biases for the AQ and SPQ: male biased in AQ-Imagination, and female biased in SPQ-Magical Ideation, with small to medium effect sizes. Taken together, these findings suggest that cognitive empathy, as quantified by the RMET, centrally involves imagination, which is underdeveloped (with a male bias) on the autism spectrum and overdeveloped (with a female bias) on the schizotypy spectrum, with optimal emotion-recognition performance intermediate between the two. The results, in conjunction with previous studies, implicate a combination of optimal imagination and focused attention in enhanced RMET performance.

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15. Naumann K, Kernot J, Parfitt G, Gower B, Davison K. Water-Based Interventions for People With Neurological Disability, Autism, and Intellectual Disability: A Scoping Review. Adapted physical activity quarterly : APAQ. 2021; 38(3): 474-93.

The purpose of this study was to produce a descriptive overview of the types of water-based interventions for people with neurological disability, autism, and intellectual disability and to determine how outcomes have been evaluated. Literature was searched through MEDLINE, EMBASE, Ovid Emcare, SPORTDiscus, Google Scholar, and Google. One hundred fifty-three papers met the inclusion criteria, 115 hydrotherapy, 62 swimming, 18 SCUBA (self-contained underwater breathing apparatus), and 18 other water-based interventions. Common conditions included cerebral palsy, spinal cord injury, Parkinson’s disease, and intellectual disability. Fifty-four papers explored physical outcomes, 36 psychosocial outcomes, and 24 both physical and psychosocial outcomes, with 180 different outcome measures reported. Overall, there is a lack of high-quality evidence for all intervention types. This review provides a broad picture of water-based interventions and associated research. Future research, guided by this scoping review, will allow a greater understanding of the potential benefits for people with neurological disability, autism, and intellectual disability.

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16. Rosello R, Martinez-Raga J, Mira A, Girela B, Cortese S. Developmental outcomes in adolescence of children with autism spectrum disorder without intellectual disability: A systematic review of prospective studies. Neuroscience and biobehavioral reviews. 2021; 126: 590-603.

Individuals with Autism Spectrum Disorder (ASD) without intellectual disability (ID) represent approximately two-thirds of the ASD population. Here we focused on prospective research assessing different areas of functioning of children with ASD, without ID, until adolescence. Based on a pre-registered protocol (PROSPERO CRD42020189029), a systematic review of prospective studies (published between 01.01.2010 and 01.01.2020) was conducted. Twenty-eight studies met eligibility criteria. Findings indicated that ASD diagnosis and the Intelligence Quotient were highly stable over time across studies. Executive Functioning, Theory of Mind and Central Coherence processes tended to improve, although deficits remained when compared to typically developed controls. Adaptive difficulties and psychiatric comorbidity were relatively stable over time. We discuss potential implications of the findings for clinicians and educators and suggest recommendations for future research.

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17. Ujiie Y, Takahashi K. Weaker McGurk Effect for Rubin’s Vase-Type Speech in People With High Autistic Traits. Multisensory research. 2021: 1-17.

While visual information from facial speech modulates auditory speech perception, it is less influential on audiovisual speech perception among autistic individuals than among typically developed individuals. In this study, we investigated the relationship between autistic traits (Autism-Spectrum Quotient; AQ) and the influence of visual speech on the recognition of Rubin’s vase-type speech stimuli with degraded facial speech information. Participants were 31 university students (13 males and 18 females; mean age: 19.2, SD: 1.13 years) who reported normal (or corrected-to-normal) hearing and vision. All participants completed three speech recognition tasks (visual, auditory, and audiovisual stimuli) and the AQ-Japanese version. The results showed that accuracies of speech recognition for visual (i.e., lip-reading) and auditory stimuli were not significantly related to participants’ AQ. In contrast, audiovisual speech perception was less susceptible to facial speech perception among individuals with high rather than low autistic traits. The weaker influence of visual information on audiovisual speech perception in autism spectrum disorder (ASD) was robust regardless of the clarity of the visual information, suggesting a difficulty in the process of audiovisual integration rather than in the visual processing of facial speech.

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18. Wall-Wieler E, Bateman BT, Hanlon-Dearman A, Roos LL, Butwick AJ. Association of Epidural Labor Analgesia With Offspring Risk of Autism Spectrum Disorders. JAMA pediatrics. 2021; 175(7): 698-705.

IMPORTANCE: Epidural labor analgesia (ELA) has been associated with an increased offspring risk of autism spectrum disorder (ASD). Whether this finding may be explained by residual confounding remains unclear. OBJECTIVE: To assess the association between ELA and offspring risk of ASD. DESIGN, SETTING, AND PARTICIPANTS: Longitudinal cohort study of vaginal deliveries of singleton live infants born from 2005 to 2016 from a population-based data set linking information from health care databases in Manitoba, Canada; offspring were followed from birth until 2019 or censored by death or emigration. Data were analyzed from October 19, 2020, to January 22, 2021. EXPOSURES: Epidural labor analgesia. MAIN OUTCOMES AND MEASURES: At least 1 inpatient or outpatient diagnosis of ASD in offspring aged at least 18 months. For the full population and a sibling cohort, inverse probability of treatment-weighted Cox proportional hazards regression analyses were used to control for potential confounders. RESULTS: Of the 123 175 offspring included in this study (62 647 boys [50.9%]; mean [SD] age of mothers, 28.2 [5.8] years), 47 011 (38.2%) were exposed to ELA; 2.1% (985 of 47 011) of exposed vs 1.7% (1272 of 76 164) of unexposed offspring were diagnosed with ASD in the follow-up period (hazard ratio [HR], 1.25; 95% CI, 1.15-1.36). After adjusting for maternal sociodemographic, prepregnancy, pregnancy, and perinatal covariates, ELA was not associated with an offspring risk of ASD (inverse probability of treatment-weighted HR, 1.08; 95% CI, 0.97-1.20). In the within-siblings design adjusting for baseline covariates, ELA was not associated with ASD (inverse probability of treatment-weighted HR, 0.97; 95% CI, 0.78-1.22). Results from sensitivity analyses restricted to women without missing data who delivered at or after 37 weeks of gestation, firstborn infants only, and offspring with ASD classified with at least 2 diagnostic codes were consistent with findings from the main analyses. CONCLUSIONS AND RELEVANCE: In a Canadian population-based birth cohort study, no association between ELA exposure and an increased offspring risk of ASD was found.

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19. Wang J, Wang X, Wang R, Duan X, Chen H, He C, Zhai J, Wu L, Chen H. Atypical Resting-State Functional Connectivity of Intra/Inter-Sensory Networks Is Related to Symptom Severity in Young Boys With Autism Spectrum Disorder. Frontiers in physiology. 2021; 12: 626338.

Autism spectrum disorder (ASD) has been reported to have altered brain connectivity patterns in sensory networks, assessed using resting-state functional magnetic imaging (rs-fMRI). However, the results have been inconsistent. Herein, we aimed to systematically explore the interaction between brain sensory networks in 3-7-year-old boys with ASD (N = 29) using independent component analysis (ICA). Participants were matched for age, head motion, and handedness in the MRI scanner. We estimated the between-group differences in spatial patterns of the sensory resting-state networks (RSNs). Subsequently, the time series of each RSN were extracted from each participant’s preprocessed data and associated estimates of interaction strength between intra- and internetwork functional connectivity (FC) and symptom severity in children with ASD. The auditory network (AN), higher visual network (HVN), primary visual network (PVN), and sensorimotor network (SMN) were identified. Relative to TDs, individuals with ASD showed increased FC in the AN and SMN, respectively. Higher positive connectivity between the PVN and HVN in the ASD group was shown. The strength of such connections was associated with symptom severity. The current study might suggest that the abnormal connectivity patterns of the sensory network regions may underlie impaired higher-order multisensory integration in ASD children, and be associated with social impairments.

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20. Wickramasekara RN, Robertson B, Hulen J, Hallgren J, Stessman HAF. Differential effects by sex with Kmt5b loss. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1554-71.

Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet, its role in the brain is not known. The goal of this work was to neurodevelopmentally characterize the effect(s) of KMT5B haploinsufficiency using a mouse model. A Kmt5b gene-trap mouse line was obtained from the Knockout Mouse Project. Wild type (WT) and heterozygous (HET) mice were subjected to a comprehensive neurodevelopmental test battery to assess reflexes, motor behavior, learning/memory, social behavior, repetitive movement, and common ASD comorbidities (obsessive compulsion, depression, and anxiety). Given the strong sex bias observed in the ASD patient population, we tested both a male and female cohort of animals and compared differences between genotypes and sexes. HET mice were significantly smaller than WT littermates starting at postnatal day 10 through young adulthood which was correlated with smaller brain size (i.e., microcephaly). This was more severe in males than females. HET male neonates also had delayed eye opening and significantly weaker reflexes than WT littermates. In young adults, significant differences between genotypes relative to anxiety, depression, fear, and extinction learning were observed. Interestingly, several sexually dimorphic differences were noted including increased repetitive grooming behavior in HET females and an increased latency to hot plate response in HET females versus a decreased latency in HET males. LAY SUMMARY: Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet its role in the brain is not known. Our study indicates that mice lacking one genomic copy of Kmt5b show deficits in neonatal reflexes, sociability, repetitive stress-induced grooming, changes in thermal pain sensing, decreased depression and anxiety, increased fear, slower extinction learning, and lower body weight, length, and brain size. Furthermore, several outcomes differed by sex, perhaps mirroring the sex bias in ASD.

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