1. Alhazmi S, Alharthi M, Alzahrani M, Alrofaidi A, Basingab F, Almuhammadi A, Alkhatabi H, Ashi A, Chaudhary A, Elaimi A. Copy number variations in autistic children. Biomed Rep;2024 (Jul);21(1):107.

Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood. Cytogenetically visible chromosomal abnormalities, including copy number variations (CNVs), have been shown to contribute to the pathogenesis of ASD. More than 1% of ASD conditions can be explained based on a known genetic locus, whereas CNVs account for 5-10% of cases. However, there are no studies on the Saudi Arabian population for the detection of CNVs linked to ASD, to the best of our knowledge. Therefore, the aim of the present study was to explore the prevalence of CNVs in autistic Saudi Arabian children. Genomic DNA was extracted from the peripheral blood of 14 autistic children along with four healthy control children and then array-based comparative genomic hybridization (aCGH) was used to detect CNVs. Bioinformatics analysis of the aCGH results showed the presence of recurrent and non-recurrent deletion/duplication CNVs in several regions of the genome of autistic children. The most frequent CNVs were 1q21.2, 3p26.3, 4q13.2, 6p25.3, 6q24.2, 7p21.1, 7q34, 7q11.1, 8p23.2, 13q32.3, 14q11.1-q11.2 and 15q11.1-q11.2. In the present study, CNVs in autistic Saudi Arabian children were identified to improve the understanding of the etiology of autism and facilitate its diagnosis. Additionally, the present study identified certain possible pathogenic genes in the CNV region associated with several developmental and neurogenetic diseases.

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2. Chung M, Imanaka K, Huang Z, Watarai A, Wang MY, Tao K, Ejima H, Aida T, Feng G, Okuyama T. Conditional knockout of Shank3 in the ventral CA1 by quantitative in vivo genome-editing impairs social memory in mice. Nat Commun;2024 (Jun 12);15(1):4531.

Individuals with autism spectrum disorder (ASD) have a higher prevalence of social memory impairment. A series of our previous studies revealed that hippocampal ventral CA1 (vCA1) neurons possess social memory engram and that the neurophysiological representation of social memory in the vCA1 neurons is disrupted in ASD-associated Shank3 knockout mice. However, whether the dysfunction of Shank3 in vCA1 causes the social memory impairment observed in ASD remains unclear. In this study, we found that vCA1-specific Shank3 conditional knockout (cKO) by the adeno-associated virus (AAV)- or specialized extracellular vesicle (EV)- mediated in vivo gene editing was sufficient to recapitulate the social memory impairment in male mice. Furthermore, the utilization of EV-mediated Shank3-cKO allowed us to quantitatively examine the role of Shank3 in social memory. Our results suggested that there is a certain threshold for the proportion of Shank3-cKO neurons required for social memory disruption. Thus, our study provides insight into the population coding of social memory in vCA1, as well as the pathological mechanisms underlying social memory impairment in ASD.

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3. Dai X, Williams GJ, Groeger JA, Jones G, Brookes K, Zhou W, Hua J, Du W. The role of circadian rhythms and sleep in the aetiology of autism spectrum disorder and attention-deficit/hyperactivity disorder: New evidence from bidirectional two-sample Mendelian randomization analysis. Autism;2024 (Jun 13):13623613241258546.

Research shows that people with autism spectrum disorder and attention-deficit/hyperactivity disorder often have sleep issues and problems with the body’s natural daily rhythms, known as circadian rhythms. By exploring the genetic variants associated with these rhythms and the conditions, this study reveals that these rhythm changes and sleep patterns are directly linked to autism spectrum disorder and attention-deficit/hyperactivity disorder. It found that the timing of one’s most active hours can increase the likelihood of having both autism spectrum disorder and attention-deficit/hyperactivity disorder. Importantly, it also shows that good sleep quality might protect against autism spectrum disorder, while disturbed sleep in people with attention-deficit/hyperactivity disorder seems to be a result rather than the cause of the condition. This understanding can help doctors and researchers develop better treatment approaches that focus on the specific ways sleep and body rhythms affect those with autism spectrum disorder and attention-deficit/hyperactivity disorder, considering their unique associations with circadian rhythms and sleep patterns. Understanding these unique links can lead to more effective, personalized care for those affected by these conditions.

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4. Dakopolos A, Condy E, Smith E, Harvey D, Kaat AJ, Coleman J, Riley K, Berry-Kravis E, Hessl D. Developmental associations between cognition and adaptive behavior in intellectual and developmental disability. J Neurodev Disord;2024 (Jun 13);16(1):31.

BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (m(age) = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, « real life » meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population.

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5. Duan K, Eyler L, Pierce K, Lombardo MV, Datko M, Hagler DJ, Taluja V, Zahiri J, Campbell K, Barnes CC, Arias S, Nalabolu S, Troxel J, Ji P, Courchesne E. Differences in regional brain structure in toddlers with autism are related to future language outcomes. Nat Commun;2024 (Jun 13);15(1):5075.

Language and social symptoms improve with age in some autistic toddlers, but not in others, and such outcome differences are not clearly predictable from clinical scores alone. Here we aim to identify early-age brain alterations in autism that are prognostic of future language ability. Leveraging 372 longitudinal structural MRI scans from 166 autistic toddlers and 109 typical toddlers and controlling for brain size, we find that, compared to typical toddlers, autistic toddlers show differentially larger or thicker temporal and fusiform regions; smaller or thinner inferior frontal lobe and midline structures; larger callosal subregion volume; and smaller cerebellum. Most differences are replicated in an independent cohort of 75 toddlers. These brain alterations improve accuracy for predicting language outcome at 6-month follow-up beyond intake clinical and demographic variables. Temporal, fusiform, and inferior frontal alterations are related to autism symptom severity and cognitive impairments at early intake ages. Among autistic toddlers, brain alterations in social, language and face processing areas enhance the prediction of the child’s future language ability.

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6. Freeman M, Fakhori N, Monteil D. Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation. BMJ Case Rep;2024 (Jun 13);17(6)

We present an infant referred to Developmental Paediatrics for delays, slow growth, hypotonia, esotropia and spasticity. Over the course of 2 months, the infant’s exam progressed, demonstrating worsening spasticity and tonal changes in the setting of a normal brain MRI with acquired microcephaly. Genetic testing demonstrated a pathogenic CTNNB1 nonsense mutation. Following the discovery of the underlying cause for the child’s clinical picture, the child was evaluated by therapeutic services and neurology, which was initially only available via asynchronous telehealth, due to a resource limited area. Cerebral palsy is a nonprogressive neurodevelopmental disorder and, when associated with developmental delay, qualifies for further genetic investigation into the underlying aetiology. Genetic testing recommendations exist for developmental delay, but there is no current algorithm regarding testing for cerebral palsy. Education and clear guidelines on genetic testing allow for better prognostication and potential treatment in cases of cerebral palsy, especially when associated with other disorders.

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7. Gao L, Wang Z, Long Y, Zhang X, Su H, Yu Y, Hong J. Autism spectrum disorders detection based on multi-task transformer neural network. BMC Neurosci;2024 (Jun 13);25(1):27.

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that cause people difficulties in social interaction and communication. Identifying ASD patients based on resting-state functional magnetic resonance imaging (rs-fMRI) data is a promising diagnostic tool, but challenging due to the complex and unclear etiology of autism. And it is difficult to effectively identify ASD patients with a single data source (single task). Therefore, to address this challenge, we propose a novel multi-task learning framework for ASD identification based on rs-fMRI data, which can leverage useful information from multiple related tasks to improve the generalization performance of the model. Meanwhile, we adopt an attention mechanism to extract ASD-related features from each rs-fMRI dataset, which can enhance the feature representation and interpretability of the model. The results show that our method outperforms state-of-the-art methods in terms of accuracy, sensitivity and specificity. This work provides a new perspective and solution for ASD identification based on rs-fMRI data using multi-task learning. It also demonstrates the potential and value of machine learning for advancing neuroscience research and clinical practice.

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8. Göksoy Ş, Tanır Y, Soylu N, Baki AM, Vural P, Karayağmurlu A. The Role of Sertoli Cell Hormones in Male Preponderance Observed in Autism Spectrum Disorder. Noro Psikiyatr Ars;2024;61(2):141-147.

INTRODUCTION: There is a significant, but poorly understood, male preponderance in prevalence of autism spectrum disorder (ASD). The aim of this study was to examine the relationship between male preponderance in ASD and Inhibin B (InhB) and Anti-Müllerian hormone (AMH) levels and the 2D/4D finger ratio associated with fetal androgen exposure. METHODS: 42 patients with ASD and 42 neurotypical controls between the ages of 5 and 10 were included. ASD diagnosis and severity were determined using K-SADS PL (Kiddie-SADS – Present and Life Time) Version 2016 and the Childhood Autism Rating Scale (CARS). Serum InhB and AMH were measured. The 2D/4D finger length ratio was also calculated for hand anthropometric measurements. RESULTS: Serum InhB levels were higher in children diagnosed with ASD compared to the neurotypical controls (p=0.003). Serum AMH levels were similar in both groups. Positive correlation was determined between AMH and CARS scores (r=0.315, p=0.05). 2D/4D finger ratios in the ASD group were significantly lower than in the control group (p<0.001). CONCLUSION: The study findings suggest that InhB, AMH, and fetal testosterone may be associated with male preponderance in ASD. More research is now required for a better understanding of this subject.

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9. Kearns RJ, Nelson SM, Rex S. Epidural analgesia in labour: separating fact from fiction for autism and neurodevelopment. Br J Anaesth;2024 (Jun 13)

Having epidural analgesia in labour has been associated with a later diagnosis of autism spectrum disorder in the offspring, resulting in concerns about childhood wellbeing. Neurodevelopmental changes are inconsistently reported in the literature, creating challenges in the interpretation of these findings. Here we explore the limitations of the current evidence base, and why findings differ between studies, concluding that the current body of evidence does not support a causal association between use of epidural analgesia in labour and autism spectrum disorder.

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10. Klein B, Ramaker M, Fitterling C, James C, Rouse M, Fauntleroy-Love KD, McNally Keehn R, Enneking B. Engagement and Satisfaction With Care Navigation Support Following Telehealth Autism Evaluation. J Dev Behav Pediatr;2024 (Jun 13)

OBJECTIVE: Care navigation support is designed to help connect families with health care resources. Given that children with autism have more unmet needs than their peers, such a service may be especially valuable to families who have recently received a diagnosis. This study sought to examine engagement in care navigation support after an autism telehealth evaluation. Specifically, we report on what demographic and diagnostic factors predicted engagement in care navigation support and satisfaction with this service. METHODS: Care navigation was offered to 220 families receiving autism telehealth evaluations between April 2020 and April 2022. Survey data from initial evaluation appointments and 2 follow-up care navigation meetings (approximately 1-3 months and approximately 9-12 months after evaluation), along with data from medical records, were collected and analyzed to determine whether any traits predicted engagement in care navigation. Satisfaction with care navigation was also analyzed. RESULTS: Of 220 families, 48.2% (n = 106) participated in a care navigation meeting within 1 to 3 months after an evaluation and 59.5% (n = 131) participated in at least 1 meeting across 2 time periods. The findings did not support the hypothesis that a diagnosis of autism would predict engagement. Analyses found that child sex (female compared with male) and child race and ethnicity (children of color compared with White children) predicted engagement. For those who engaged in care navigation, high satisfaction was reported. CONCLUSION: Participants’ engagement rates and satisfaction levels suggest care navigation is a valuable service for families after a telehealth autism evaluation.

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11. Kornisch M, Gonzalez C, Ikuta T. Functional connectivity of the posterior cingulate cortex in autism spectrum disorder. Psychiatry Res Neuroimaging;2024 (Jun 13);342:111848.

The purpose of this study was to assess the functional connectivity of the posterior cingulate cortex in autism spectrum disorder (ASD). We used resting-state functional magnetic resonance imaging (rsfMRI) brain scans of adolescents diagnosed with ASD and a neurotypical control group. The Autism Brain Imaging Data Exchange (ABIDE) consortium was utilized to acquire data from the University of Michigan (145 subjects) and data from the New York University (183 subjects). The posterior cingulate cortex showed reduced connectivity with the anterior cingulate cortex for the ASD group compared to the control group. These two brain regions have previously both been linked to ASD symptomology. Specifically, the posterior cingulate cortex has been associated with behavioral control and executive functions, which appear to be responsible for the repetitive and restricted behaviors (RRB) in ASD. Our findings support previous data indicating a neurobiological basis of the disorder, and the specific functional connectivity changes involving the posterior cingulate cortex and anterior cingulate cortex may be a potential neurobiological biomarker for the observed RRBs in ASD.

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12. Kwok TT, Chan MM, Mo FY, Hung SF, Leung PW, Lai KY, Shea CK. Prevalence of autism in first-episode psychosis in two Hong Kong teaching hospitals. Autism;2024 (Jun 13):13623613241259062.

Autistic features are commonly observed in children and adolescents with first-episode psychosis, but they are sometimes overlooked by clinicians and caregivers. By comprehensively examining the clinical profiles of 103 children and adolescents (below 18 years old) with first-episode psychosis and conducting the Autism Diagnostic Interview-Revised (the ‘gold standard’ autism diagnostic tool) with their primary caregivers, we showed that around 28% of patients with first-episode psychosis had a comorbid autism diagnosis, and boys were 3.57 times more likely to have first-episode psychosis-autism spectrum disorder comorbidity than girls. After administering the Autism Diagnostic Interview-Revised, we also observed that an additional 30% of patients with first-episode psychosis met the autism spectrum disorder diagnostic cut-off; their autism spectrum disorder symptoms were probably overshadowed by prodromal psychotic symptoms and left undetected before this study. The co-occurrence of autism and first-episode psychosis might be more common than we previously thought. Careful autism screening and assessment is highly recommended for clinicians working with patients with psychosis.

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13. Meijsen J, Hu K, Krebs MD, Athanasiadis G, Washbrook S, Zetterberg R, Avelar ESRN, Shorter JR, Gådin JR, Bergstedt J, Howard DM, Ye W, Lu Y, Valdimarsdóttir UA, Ingason A, Helenius D, Plana-Ripoll O, McGrath JJ, Micali N, Andreassen OA, Werge TM, Fang F, Buil A. Quantifying the relative importance of genetics and environment on the comorbidity between mental and cardiometabolic disorders using 17 million Scandinavians. Nat Commun;2024 (Jun 13);15(1):5064.

Mental disorders are leading causes of disability and premature death worldwide, partly due to high comorbidity with cardiometabolic disorders. Reasons for this comorbidity are still poorly understood. We leverage nation-wide health records and near-complete genealogies of Denmark and Sweden (n = 17 million) to reveal the genetic and environmental contributions underlying the observed comorbidity between six mental disorders and 15 cardiometabolic disorders. Genetic factors contributed about 50% to the comorbidity of schizophrenia, affective disorders, and autism spectrum disorder with cardiometabolic disorders, whereas the comorbidity of attention-deficit/hyperactivity disorder and anorexia with cardiometabolic disorders was mainly or fully driven by environmental factors. In this work we provide causal insight to guide clinical and scientific initiatives directed at achieving mechanistic understanding as well as preventing and alleviating the consequences of these disorders.

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14. Mizui R, Yamamuro K, Okazaki K, Uratani M, Kashida N, Ishida R, Makinodan M. Preliminary observations on the associations between sensory processing abnormalities and event-related potentials in adults with autism spectrum disorder. PCN Rep;2024 (Mar);3(1):e173.

AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is thought to involve a variety of neurophysiological characteristics. Event-related potentials (ERPs) reflect cognitive functions in the brain’s cognitive processing. In this study, we investigated differences in P300 and N100 of ERPs between ASD and typically developing groups and focused on the relationship between the components of ERPs and measures of autistic traits and sensory processing characteristics. METHODS: ERPs were measured in 96 subjects in the ASD group and 62 subjects in the age- and sex-adjusted typically developing group. Correlations between each component and the scores of the Autism-Spectrum Quotient Japanese version (AQ-J) and the Adolescent and Adult Sensory Profile (AASP) were also evaluated. RESULTS: The ASD group showed a significant decrease in the amplitude of N100 at C3. Furthermore, a negative correlation was found between lower amplitude at C3 of N100 and low registered sensory scores in both groups. CONCLUSION: Our findings imply that the N100 amplitude at C3 could be a potential indicator for examining the neurophysiological traits of ASD; however, these results should be interpreted with caution due to their preliminary nature. These tentative insights into sensory processing anomalies may be discernible in specific subsets of the ASD population, providing a foundation for future investigative pathways.

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15. Motil KJ, Beisang A, Smith-Hicks C, Lembo A, Standridge SM, Liu E. Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in rett syndrome. Expert Rev Gastroenterol Hepatol;2024 (Jun 13)

INTRODUCTION: Although gastrointestinal (GI) comorbidities are experienced by over 90% of individuals with Rett syndrome (RTT), a neurodevelopmental disorder associated with mutations in the MECP2 gene, many neurologists and pediatricians do not rank the management of these comorbidities among the most important treatment goals for RTT. Trofinetide, the first approved pharmacologic treatment for RTT, confers improvements in RTT symptoms but is associated with adverse GI events, primarily diarrhea and vomiting. Treatment strategies for GI comorbidities and drug-associated symptoms in RTT represent an unmet clinical need. AREAS COVERED: This perspective covers GI comorbidities experienced by those with RTT, either with or without trofinetide treatment. PubMed literature searches were undertaken on treatment recommendations for the following conditions: constipation, diarrhea, vomiting, aspiration, dysphagia, gastroesophageal reflux, nausea, gastroparesis, gastritis, and abdominal bloating. EXPERT OPINION: The authors recommend a proactive approach to management of symptomatic GI comorbidities and drug-associated symptoms in RTT to enhance drug tolerance and improve the quality of life of affected individuals. Management strategies for common GI comorbidities associated with RTT are reviewed based on authors’ clinical experience and augmented by recommendations from the literature.

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16. Ostrolenk A, Gagnon D, Boisvert M, Lemire O, Dick SC, Côté MP, Mottron L. Enhanced interest in letters and numbers in autistic children. Mol Autism;2024 (Jun 12);15(1):26.

BACKGROUND: An intense and precocious interest in written material, together with a discrepancy between decoding and reading comprehension skills are defining criteria for hyperlexia, which is found in up to 20% of autistic individuals. It may represent the extreme end of a broader interest in written material in autism. This study examines the magnitude and nature of the interest in written material in a large population of autistic and non-autistic children. METHODS: All 701 children (391 autistic, 310 non-autistic) under the age of 7 referred to an autism assessment clinic over a span of 4 years were included. Ordinal logistic regressions assessed the association between diagnosis and the level of interest in letters and numbers. A nested sample of parents of 138 autistic, 99 non-autistic clinical, and 76 typically developing (TD) children completed a detailed questionnaire. Cox proportional hazards models analyzed the age of emergence of these interests. Linear regressions evaluated the association between diagnosis and interest level. The frequency of each behaviour showing interest and competence with letters and numbers were compared. RESULTS: In the two studies, 22 to 37% of autistic children had an intense or exclusive interest in letters. The odds of having a greater interest in letters was 2.78 times higher for autistic children than for non-autistic clinical children of the same age, and 3.49 times higher for the interest in numbers, even if 76% of autistic children were minimally or non-verbal. The age of emergence of these interests did not differ between autistic and TD children and did not depend on their level of oral language. Non-autistic children showed more interest in letters within a social context. LIMITATIONS: The study holds limitations inherent to the use of a phone questionnaire with caregivers and missing sociodemographic information. CONCLUSIONS: The emergence of the interest of autistic children toward written language is contemporaneous to the moment in their development where they display a strong deficit in oral language. Together with recent demonstrations of non-social development of oral language in some autistic children, precocious and intense interest in written material suggests that language acquisition in autism may follow an alternative developmental pathway.

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17. Rippon G. Differently different?: A commentary on the emerging social cognitive neuroscience of female autism. Biol Sex Differ;2024 (Jun 13);15(1):49.

Autism is a neurodevelopmental condition, behaviourally identified, which is generally characterised by social communication differences, and restrictive and repetitive patterns of behaviour and interests. It has long been claimed that it is more common in males. This observed preponderance of males in autistic populations has served as a focussing framework in all spheres of autism-related issues, from recognition and diagnosis through to theoretical models and research agendas. One related issue is the near total absence of females in key research areas. For example, this paper reports a review of over 120 brain-imaging studies of social brain processes in autism that reveals that nearly 70% only included male participants or minimal numbers (just one or two) of females. Authors of such studies very rarely report that their cohorts are virtually female-free and discuss their findings as though applicable to all autistic individuals. The absence of females can be linked to exclusionary consequences of autism diagnostic procedures, which have mainly been developed on male-only cohorts. There is clear evidence that disproportionately large numbers of females do not meet diagnostic criteria and are then excluded from ongoing autism research. Another issue is a long-standing assumption that the female autism phenotype is broadly equivalent to that of the male autism phenotype. Thus, models derived from male-based studies could be applicable to females. However, it is now emerging that certain patterns of social behaviour may be very different in females. This includes a specific type of social behaviour called camouflaging or masking, linked to attempts to disguise autistic characteristics. With respect to research in the field of sex/gender cognitive neuroscience, there is emerging evidence of female differences in patterns of connectivity and/or activation in the social brain that are at odds with those reported in previous, male-only studies. Decades of research have excluded or overlooked females on the autistic spectrum, resulting in the construction of inaccurate and misleading cognitive neuroscience models, and missed opportunities to explore the brain bases of this highly complex condition. A note of warning needs to be sounded about inferences drawn from past research, but if future research addresses this problem of male bias, then a deeper understanding of autism as a whole, as well as in previously overlooked females, will start to emerge. Autism is a neurodevelopmental condition, behaviourally identified, which is generally characterised by social communication differences, and restrictive and repetitive patterns of behaviour and interests. It has long been claimed that it is more common in males, with oft-quoted ratios of 4M: 1F. This has been reflected in the development of diagnostic criteria for autism and, consequently, of measures of eligibility for autism research programmes, with females being (as is now emerging) disproportionately excluded.As outlined in this review, this issue has been particularly problematic in brain-based studies of autism. Many studies have only tested male autistic participants, or minimal numbers of autistic females. By default, sex differences were not examined. But the impression given by such research reports has commonly been that the findings would be applicable to all autistic individuals.Recent psychological and clinical research has shown that there are a significant number of autistic females who have been missed by traditional diagnostic practices. Their inclusion has increased their eligibility for autism research studies. With respect to brain research, it has become possible to devise studies with matched numbers of autistic females and males, and to replicate studies that have previously only tested males. Newly emerging findings from such studies are demonstrating that the ‘robust’ autism-related differences previously observed in autistic male-only cohorts do not fully generalise to autistic females.It will be necessary to exercise caution in drawing inferences from previous male-biased studies of the autistic brain. However, the identification and inclusion of previously excluded female autistic participants hopefully offers more accurate insights into this highly complex and heterogeneous condition. eng

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18. Sandoval SO, Méndez-Albelo NM, Xu Z, Zhao X. From wings to whiskers to stem cells: why every model matters in fragile X syndrome research. J Neurodev Disord;2024 (Jun 13);16(1):30.

Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.

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19. Shuffrey LC, Rennie B, Li X, Galai N, Pini N, Akbaryan A, Alshawabkeh A, Aschner J, Vargas JC, Costello L, D’Sa V, Deoni S, Dunlop A, Elliott AJ, Fifer WP, Hash J, Koinis-Mitchell D, Lai JS, Leventhal BL, Lewis J, Lucchini M, McArthur KL, Morales S, Nozadi SS, O’Connor TG, O’Shea TM, Page GP, Propper C, Sania A, Shuster C, Zimmerman E, Margolis AE. Combining developmental and sleep health measures for autism spectrum disorder screening: an ECHO study. Pediatr Res;2024 (Jun 12)

BACKGROUND: Sleep problems are reported for up to 80% of autistic individuals. We examined whether parsimonious sets of items derived from the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) and the Brief Infant Sleep Questionnaire (BISQ) are superior to the standard M-CHAT-R in predicting subsequent autism spectrum disorder (ASD) diagnoses. METHODS: Participants from 11 Environmental influences on Child Health Outcomes (ECHO) cohorts were included. We performed logistic LASSO regression models with 10-fold cross-validation to identify whether a combination of items derived from the M-CHAT-R and BISQ are superior to the standard M-CHAT-R in predicting ASD diagnoses. RESULTS: The final sample comprised 1552 children. The standard M-CHAT-R had a sensitivity of 44% (95% CI: 34, 55), specificity of 92% (95% CI: 91, 94), and AUROC of 0.726 (95% CI: 0.663, 0.790). A higher proportion of children with ASD had difficulty falling asleep or resisted bedtime during infancy/toddlerhood. However, LASSO models revealed parental reports of sleep problems did not improve the accuracy of the M-CHAT-R in predicting ASD diagnosis. CONCLUSION: While children with ASD had higher rates of sleep problems during infancy/toddlerhood, there was no improvement in ASD developmental screening through the incorporation of parent-report sleep metrics. IMPACT: Parental-reported sleep problems are common in autism spectrum disorder (ASD). We investigated whether the inclusion of parental-reports of infant/toddler sleep patterns enhanced the effectiveness of developmental screening for autism. We reported higher rates of difficulty falling asleep and resisting bedtime during infancy and toddlerhood among children later diagnosed with ASD; however, we did not find an improvement in ASD developmental screening through the incorporation of parent-report sleep metrics. In our sample, the standard M-CHAT-R had a sensitivity of 39% among children of mothers with government insurance compared with a sensitivity of 53% among children of mothers with employer-based insurance.

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20. So R, Sato Y, Hashimoto N, Furukawa TA. Prevalence of suspected autism spectrum disorder and attention-deficit hyperactivity disorder in a Japanese clinical sample with gambling disorder: A cross-sectional study. PCN Rep;2023 (Sep);2(3):e131.

AIM: Studies show gambling disorders are associated with attention-deficit hyperactivity disorder (ADHD). The association between gambling disorders and autism spectrum disorder (ASD) has not been well studied, although ASD is often comorbid with ADHD and is associated with gaming disorder. The aim of this study was to estimate the prevalence of ASD and ADHD traits comorbid with gambling disorders and to examine the relationships between these traits and gambling problems in a clinical population. METHODS: This single-site cross-sectional study was conducted at a Japanese addiction outpatient clinic treating gambling disorders. The Autism-Spectrum Quotient (AQ) test and the Adult ADHD Self-Report Scale (ASRS) were used to screen ASD and ADHD. The Problem Gambling Severity Index (PGSI) was used to assess the severity of the gambling problems. We calculated the prevalence of suspected ASD and ADHD with 95% confidence intervals (CI) based on a binomial distribution and performed univariate analyses to examine the relationships between the AQ and ASRS scores and the total PGSI score. RESULTS: We included 97 of 197 potential participants. After screening the participants using the AQ and ASRS, we found that the prevalence of ASD traits was 29.8% (95% CI: 21.0%-40.2%), while the prevalence of ADHD traits was 26.0% (95% CI: 17.9%-36.2%). Univariate regression analyses revealed that the total AQ score was inversely associated with the total PGSI score. However, the total ASRS score and some ASRS subscores were positively associated with the total PGSI score. CONCLUSION: ASD and ADHD may be prevalent among patients with gambling disorders in clinical settings.

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21. Toshishige Y, Kondo M, Watanabe T, Yamada A, Hashimoto H, Okazaki J, Tokuyama N, Kuwabara J, Mizushima H, Akechi T. Association between marital satisfaction of female patients with persistent depressive disorder, and their own and husbands’ autism spectrum disorder or attention deficit/hyperactivity disorder traits. PCN Rep;2023 (Jun);2(2):e95.

AIM: Patients’ and spouses’ neurodevelopmental traits may influence marital relationships, which are significantly associated with depressive symptoms. However, no studies have examined marital relationships in persistent depressive disorder (PDD) in terms of neurodevelopmental traits. This study aimed to explore the association between the autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) traits of female PDD patients and both partners’ (patient and husband) marital satisfaction. METHODS: A cross-sectional online survey was administered during two predetermined consecutive months at seven institutions. Participants were female outpatients who fulfilled the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for PDD and their husbands. The instruments of the study were the following validated surveys: the Quality Marriage Index (QMI), the Autism-Spectrum Quotient Japanese version-21 (AQ-J-21), and the Adult ADHD Self-Report Scale Part A (ASRS Part A). RESULTS: The patients’ AQ-J-21 showed a positive significant association with their QMI in all patients who responded to this study’s questionnaire, whereas among couples wherein both patient and husband responded, the ASRS Part A exhibited a positive significant association with the patients’ QMI. Conversely, the husbands’ ASRS Part A exhibited a negative significant association with the patients’ QMI. CONCLUSION: The patients’ ASD and ADHD traits may play a positive role in the marital satisfaction of female PDD patients, while their husbands’ ADHD traits may play a negative role. For female PDD patients with low marital satisfaction, it may be important to consider whether their husbands have ADHD traits; if so, it may be necessary to develop intervention strategies focused on the traits for improving the low marital satisfaction. However, our conclusions are not sufficiently convincing.

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22. Van Dyke J, Rosenberg SA, Crume T, Reyes N, Alexander AA, Barger B, Fitzgerald R, Hightshoe K, Moody EJ, Pazol K, Rosenberg CR, Rubenstein E, Wiggins L, DiGuiseppi C. Child Age at Time of First Maternal Concern and Time to Services Among Children with Autism Spectrum Disorder. J Dev Behav Pediatr;2024 (Jun 13)

OBJECTIVE: Early treatment of autism spectrum disorder (ASD) can improve developmental outcomes. Children with ASD from minority families often receive services later. We explored factors related to child’s age at time of mother’s first concerns about child’s development and subsequent time to service initiation among children with ASD. METHODS: Analysis included 759 preschool-age children classified with ASD based on comprehensive evaluations. Factors associated with retrospectively reported child age at time of first maternal concern and subsequent time to service initiation were investigated using multiple linear regression and Cox proportional hazards. RESULTS: Earlier maternal concern was associated with multiparity, ≥1 child chronic condition, externalizing behaviors, and younger gestational age, but not race/ethnicity. Time to service initiation was longer for children of non-Latino Black or other than Black or White race and higher developmental level and shorter for children with ≥1 chronic condition and older child age at first maternal concern. CONCLUSION: Parity, gestational age, and child health and behavior were associated with child age at first maternal concern. Knowledge of child development in multiparous mothers may allow them to recognize potential concerns earlier, suggesting that first time parents may benefit from enhanced education about normal development. Race/ethnicity was not associated with child’s age when mothers recognized potential developmental problems; hence, it is unlikely that awareness of ASD symptoms causes racial/ethnic disparities in initiation of services. Delays in time to service initiation among children from racial/ethnic minority groups highlight the need to improve their access to services as soon as developmental concerns are recognized.

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23. Zhang J, Guo J, Lu D, Cao Y. ASD-SWNet: a novel shared-weight feature extraction and classification network for autism spectrum disorder diagnosis. Sci Rep;2024 (Jun 13);14(1):13696.

The traditional diagnostic process for autism spectrum disorder (ASD) is subjective, where early and accurate diagnosis significantly affects treatment outcomes and life quality. Thus, improving ASD diagnostic methods is critical. This paper proposes ASD-SWNet, a new shared-weight feature extraction and classification network. It resolves the issue found in previous studies of inefficiently integrating unsupervised and supervised learning, thereby enhancing diagnostic precision. The approach utilizes functional magnetic resonance imaging to improve diagnostic accuracy, featuring an autoencoder (AE) with Gaussian noise for robust feature extraction and a tailored convolutional neural network (CNN) for classification. The shared-weight mechanism utilizes features learned by the AE to initialize the convolutional layer weights of the CNN, thereby integrating AE and CNN for joint training. A novel data augmentation strategy for time-series medical data is also introduced, tackling the problem of small sample sizes. Tested on the ABIDE-I dataset through nested ten-fold cross-validation, the method achieved an accuracy of 76.52% and an AUC of 0.81. This approach surpasses existing methods, showing significant enhancements in diagnostic accuracy and robustness. The contribution of this paper lies not only in proposing new methods for ASD diagnosis but also in offering new approaches for other neurological brain diseases.

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