Pubmed du 13/11/23

Pubmed du jour

1. Asaoka H, Okamura S, Baba C, Fujimoto N, Ishizuka Y, Takahashi T. Influence of the COVID-19 pandemic on children with autism spectrum disorder and their mothers in Japan. Autism & developmental language impairments. 2023; 8: 23969415231212347.

BACKGROUND AND AIMS: Research on the psychological impact of the coronavirus disease 2019 pandemic has highlighted its negative and positive effects on children with autism spectrum disorder and their families. However, little is known about the neutral effects that remain the same, even in particular circumstances, and how children with autism spectrum disorder and their parents perceive each other. We explored how children with autism spectrum disorder and their mothers perceived and experienced the pandemic in Japan. METHODS: A mixed-methods design was employed. Thirteen children with autism spectrum disorder and 12 mothers participated. Data were collected through online semi-structured interviews and analyzed using thematic analysis. Similarities and differences in perceptions were compared. RESULTS: The results revealed six broad themes and 27 categories. Regarding neutral effects, some mothers reported no substantial impact because there were no changes in their jobs or other dramatic life changes. In addition, some children were not affected because they had had no social contact before the pandemic or because their lives had not changed dramatically. Regarding the perceptions of children/mothers, most expressed that they/their children enjoyed spending time with their families. At home, mothers made various efforts to interact with their children. However, mothers and children differed in their perceptions, such as regarding the emergence of anxiety about conducting school events and the resolution of study-related concerns. CONCLUSIONS: There were negative, neutral, and positive effects on both children with autism spectrum disorder and their mothers; specifically, they were striving to move forward to overcome the problems posed by the pandemic. Both parties tapped into their resilience by enhancing family interactions, such as cooking together or discussing children’s interests. IMPLICATIONS: These findings have important implications for developing more creative solutions to the challenges of coping and resilience in future crises.

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2. Baker JK, Fenning RM, Preston AE, Chan N, McGregor HA, Neece CL. Parental Distress and Parenting Behavior in Families of Preschool Children with and Without ASD: Spillover and Buffering. Journal of autism and developmental disorders. 2023.

Parents of children with autism spectrum disorder (ASD) report increased distress relative to parents of children with neurotypical development. Parent well-being is generally considered a key determinant of parenting behavior, thus increased distress may spill over into less optimal parenting in families of children with ASD. However, evidence is mixed regarding the degree to which parenting is actually compromised in this population, suggesting the possibility of buffering, wherein the parenting of children with ASD may be robust against spillover from increased parental distress. The current study tested competing spillover and buffering models with regard to relations among child ASD status, parental distress, and parenting behavior. Parents of preschoolers with (n = 73) and without (n = 55) ASD completed self-report measures of parenting stress, depressive symptoms, and emotion dysregulation, as well as of positive and negative parenting behaviors. Families of preschoolers with ASD reported higher distress and negative parenting, and lower positive parenting than did their counterparts. Findings supported the spillover model for negative parenting such that increased parental distress accounted for status-group differences in negative parenting. In contrast, potential buffering was observed for positive parenting in that an inverse association between distress and parenting was observed for parents of children with neurotypical development only. Findings highlight the potential benefit of intervention to reduce parental distress in families of children with ASD, but also suggest some existing ability of these families to buffer certain parenting behaviors from deleterious effects of parent distress.

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3. Bearer C, Abman SH, Agostoni C, Ballard P, Bliss J, de Boode WP, Canpolat FE, Chalak L, Cilio MR, Dammann O, Davis J, El-Metwally D, Ferriero D, Ford S, Fuentes-Afflick E, Gano D, Giussani D, Gonzalez F, Gunn A, Hogeveen M, Huang AY, Kaplan J, Klebanoff M, Lachman P, Mak R, Malhotra A, Miller S, Mitchell WB, Molloy E, Mulkey SB, Roland D, Sampath V, Sant’Anna G, Schaff P, Singer LT, Stroustrup A, Tingay D, Tiribelli C, Toldi G, Tryggestad J, Valente EM, Wilson-Costello D, Zupancic J. Asperger’s syndrome – about time to rename it?. Pediatric research. 2023.

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4. Gerber AH, Keluskar J, Lerner MD. Longitudinal Impact of the Pandemic on Social Disruption and Loneliness in Autistic and Non-Autistic Youth. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2023: 1-13.

OBJECTIVE: The coronavirus pandemic drastically increased social isolation. Autistic youth already experience elevated social isolation and loneliness, making them highly vulnerable to the impact of the pandemic. We examined trajectories of social disruption and loneliness in autistic and non-autistic youth during a six-month period of the pandemic (June 2020 until November 2020). METHOD: Participants were 76 youth, ages 8 through 17, (M(age) = 12.82, N(autistic) = 51) with an IQ ≥ 70. Youth completed a biweekly measure of loneliness (Revised UCLA Loneliness Scale) and their parent completed a measure of pandemic-related family social disruption (Epidemic Pandemic Impacts Inventory). RESULTS: There were no time trends in loneliness across all youth, however, social disruption displayed linear, quadratic, and cubic trends. Non-autistic youth reported relatively greater declines in social disruption compared to autistic youth. Additionally, autistic youth reported relatively greater declines in loneliness relative to non-autistic youth. Greater social disruption was associated with higher loneliness, however, autistic youth demonstrated a relatively stronger relationship between social disruption and loneliness compared to non-autistic youth. CONCLUSIONS: The current study was one of the first to investigate social disruption and loneliness in autistic youth during the COVID-19 pandemic. Results indicated that autistic youth experienced relative decreases in loneliness during this time, perhaps due to reductions in social demands. Nonetheless, when autistic youth did experience social disruption, they reported relatively higher levels of loneliness. This work contributes to our understanding of risk factors for loneliness and highlights the need to understand the benefits, as well as the challenges, to remote schooling and social interactions.

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5. Hirata R, Yoshimura S, Kobayashi K, Aki M, Shibata M, Ueno T, Miyagi T, Oishi N, Murai T, Fujiwara H. Differences between subclinical attention-deficit/hyperactivity and autistic traits in default mode, salience, and frontoparietal network connectivities in young adult Japanese. Scientific reports. 2023; 13(1): 19724.

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are associated with attentional impairments, with both commonalities and differences in the nature of their attention deficits. This study aimed to investigate the neural correlates of ADHD and ASD traits in healthy individuals, focusing on the functional connectivity (FC) of attention-related large-scale brain networks (LSBNs). The participants were 61 healthy individuals (30 men; age, 21.9 ± 1.9 years). The Adult ADHD Self-Report Scale (ASRS) and Autism Spectrum Quotient (AQ) were administered as indicators of ADHD and ASD traits, respectively. Performance in the continuous performance test (CPT) was used as a behavioural measure of sustained attentional function. Functional magnetic resonance imaging scans were performed during the resting state (Rest) and auditory oddball task (Odd). Considering the critical role in attention processing, we focused our analyses on the default mode (DMN), frontoparietal (FPN), and salience (SN) networks. Region of interest (ROI)-to-ROI analyses (false discovery rate < 0.05) were performed to determine relationships between psychological measures with within-network FC (DMN, FPN, and SN) as well as with between-network FC (DMN-FPN, DMN-SN, and FPN-SN). ASRS scores, but not AQ scores, were correlated with less frequent commission errors and shorter reaction times in the CPT. During Odd, significant positive correlations with ASRS were demonstrated in multiple FCs within DMN, while significant positive correlations with AQ were demonstrated in multiple FCs within FPN. AQs were negatively correlated with FPN-SN FCs. During Rest, AQs were negatively and positively correlated with one FC within the SN and multiple FCs between the DMN and SN, respectively. These findings of the ROI-to-ROI analysis were only partially replicated in a split-half replication analysis, a replication analysis with open-access data sets, and a replication analysis with a structure-based atlas. The better CPT performance by individuals with subclinical ADHD traits suggests positive effects of these traits on sustained attention. Differential associations between LSBN FCs and ASD/ADHD traits corroborate the notion of differences in sustained and selective attention between clinical ADHD and ASD.

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6. Johnson AJ, Shankland E, Richards T, Corrigan N, Shusterman D, Edden R, Estes A, St John T, Dager S, Kleinhans NM. Relationships between GABA, glutamate, and GABA/glutamate and social and olfactory processing in children with autism spectrum disorder. Psychiatry research Neuroimaging. 2023; 336: 111745.

Theories of altered inhibitory/excitatory signaling in autism spectrum disorder (ASD) suggest that gamma amino butyric acid (GABA) and glutamate (Glu) abnormalities may underlie social and sensory challenges in ASD. Magnetic resonance spectroscopy was used to measure Glu and GABA+ levels in the amygdala-hippocampus region and cerebellum in autistic children (n = 30), a clinical control group with sensory abnormalities (SA) but not ASD (n = 30), and children with typical development (n = 37). All participants were clinically assessed using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Scale-2, and the Child Sensory Profile-2. The Social Responsiveness Scale-2, Sniffin Sticks Threshold Test, and the University of Pennsylvania Smell Identification Test were administered to assess social impairment and olfactory processing. Overall, autistic children showed increased cerebellar Glu levels compared to TYP children. Evidence for altered excitatory/inhibitory signaling in the cerebellum was more clear-cut when analyses were restricted to male participants. Further, lower cerebellar GABA+/Glu ratios were correlated to more severe social impairment in both autistic and SA males, suggesting that the cerebellum may play a transdiagnostic role in social impairment. Future studies of inhibitory/excitatory neural markers, powered to investigate the role of sex, may aid in parsing out disorder-specific neurochemical profiles.

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7. Lopes DC, Mendes LST, Ferreira ICH. Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report. Einstein (Sao Paulo, Brazil). 2023; 21: eRC0480.

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.

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8. Mondellini M, Prajod P, Lavit Nicora M, Chiappini M, Micheletti E, Storm FA, Vertechy R, André E, Malosio M. Behavioral patterns in robotic collaborative assembly: comparing neurotypical and Autism Spectrum Disorder participants. Frontiers in psychology. 2023; 14: 1245857.

INTRODUCTION: In Industry 4.0, collaborative tasks often involve operators working with collaborative robots (cobots) in shared workspaces. Many aspects of the operator’s well-being within this environment still need in-depth research. Moreover, these aspects are expected to differ between neurotypical (NT) and Autism Spectrum Disorder (ASD) operators. METHODS: This study examines behavioral patterns in 16 participants (eight neurotypical, eight with high-functioning ASD) during an assembly task in an industry-like lab-based robotic collaborative cell, enabling the detection of potential risks to their well-being during industrial human-robot collaboration. Each participant worked on the task for five consecutive days, 3.5 h per day. During these sessions, six video clips of 10 min each were recorded for each participant. The videos were used to extract quantitative behavioral data using the NOVA annotation tool and analyzed qualitatively using an ad-hoc observational grid. Also, during the work sessions, the researchers took unstructured notes of the observed behaviors that were analyzed qualitatively. RESULTS: The two groups differ mainly regarding behavior (e.g., prioritizing the robot partner, gaze patterns, facial expressions, multi-tasking, and personal space), adaptation to the task over time, and the resulting overall performance. DISCUSSION: This result confirms that NT and ASD participants in a collaborative shared workspace have different needs and that the working experience should be tailored depending on the end-user’s characteristics. The findings of this study represent a starting point for further efforts to promote well-being in the workplace. To the best of our knowledge, this is the first work comparing NT and ASD participants in a collaborative industrial scenario.

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9. Munk-Olsen T, Di Florio A, Madsen KB, Albiñana C, Mægbæk ML, Bergink V, Frøkjær VG, Agerbo E, Vilhjálmsson BJ, Werge T, Nordentoft M, Hougaard DM, Børglum AD, Mors O, Mortensen PB, Liu X. Postpartum and non-postpartum depression: a population-based matched case-control study comparing polygenic risk scores for severe mental disorders. Translational psychiatry. 2023; 13(1): 346.

It remains inconclusive whether postpartum depression (PPD) and depression with onset outside the postpartum period (MDD) are genetically distinct disorders. We aimed to investigate whether polygenic risk scores (PGSs) for major mental disorders differ between PPD cases and MDD cases in a nested case-control study of 50,057 women born from 1981 to 1997 in the iPSYCH2015 sample in Demark. We identified 333 women with first-onset postpartum depression (PPD group), who were matched with 993 women with first-onset depression diagnosed outside of postpartum (MDD group), and 999 female population controls. Data on genetics and depressive disorders were retrieved from neonatal biobanks and the Psychiatric Central Research Register. PGSs were calculated from both individual-level genetic data and meta-analysis summary statistics from the Psychiatric Genomics Consortium. Conditional logistic regression was used to calculate the odds ratio (OR), accounting for the selection-related reproductive behavior. After adjustment for covariates, higher PGSs for severe mental disorders were associated with increased ORs of both PPD and MDD. Compared with MDD cases, MDD PGS and attention-deficit/hyperactivity disorder PGS were marginally but not statistically higher for PPD cases, with the OR of PPD versus MDD being 1.12 (95% CI: 0 .97-1.29) and 1.11 (0.97-1.27) per-standard deviation increase, respectively. The ORs of PPD versus MDD did not statistically differ by PGSs of bipolar disorder, schizophrenia, or autism spectrum disorder. Our findings suggest that relying on PGS data, there was no clear evidence of distinct genetic make-up of women with depression occurring during or outside postpartum, after taking the selection-related reproductive behavior into account.

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10. Quesnel KM, Martin-Kenny N, Bérubé NG. A mouse model of ATRX deficiency with cognitive deficits and autistic traits. Journal of neurodevelopmental disorders. 2023; 15(1): 39.

BACKGROUND: ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating gene expression. Deficiencies in this protein cause ATR-X syndrome, a condition characterized by intellectual disability and an array of developmental abnormalities, including features of autism. Previous studies demonstrated that deleting ATRX in mouse forebrain excitatory neurons postnatally resulted in male-specific memory deficits, but no apparent autistic-like behaviours. METHODS: We generated mice with an earlier embryonic deletion of ATRX in forebrain excitatory neurons and characterized their behaviour using a series of memory and autistic-related paradigms. RESULTS: We found that mutant mice displayed a broader spectrum of impairments, including fear memory, decreased anxiety-like behaviour, hyperactivity, as well as self-injurious and repetitive grooming. Sex-specific alterations were also observed, including male-specific aggression, sensory gating impairments, and decreased social memory. CONCLUSIONS: Collectively, the findings indicate that early developmental abnormalities arising from ATRX deficiency in forebrain excitatory neurons contribute to the presentation of fear memory deficits as well as autistic-like behaviours.

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11. Woelfle S, Pedro MT, Wagner J, Schön M, Boeckers TM. Expression profiles of the autism-related SHANK proteins in the human brain. BMC biology. 2023; 21(1): 254.

BACKGROUND: SHANKs are major scaffolding proteins at postsynaptic densities (PSDs) in the central nervous system. Mutations in all three family members have been associated with neurodevelopmental disorders such as autism spectrum disorders (ASDs). Despite the pathophysiological importance of SHANK2 and SHANK3 mutations in humans, research on the expression of these proteins is mostly based on rodent model organisms. RESULTS: In the present study, cellular and neuropil SHANK2 expression was analyzed by immunofluorescence (IF) staining of post mortem human brain tissue from four male individuals (19 brain regions). Mouse brains were analyzed in comparison to evaluate the degree of phylogenetic conservation. Furthermore, SHANK2 and SHANK3 isoform patterns were compared in human and mouse brain lysates. While isoform expression and subcellular distribution were largely conserved, differences in neuropil levels of SHANK2 were found by IF staining: Maximum expression was concordantly measured in the cerebellum; however, higher SHANK2 expression was detected in the human brainstem and thalamus when compared to mice. One of the lowest SHANK2 levels was found in the human amygdala, a moderately expressing region in mouse. Quantification of SHANK3 IF in mouse brains unveiled a distribution comparable to humans. CONCLUSIONS: In summary, these data show that the overall expression pattern of SHANK is largely conserved in defined brain regions; however, differences do exist, which need to be considered in the translation of rodent studies. The summarized expression patterns of SHANK2 and SHANK3 should serve as a reference for future studies.

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12. Yoshinaga K, Egawa J, Watanabe Y, Kasahara H, Sugimoto A, Someya T. Usefulness of the autism spectrum quotient (AQ) in screening for autism spectrum disorder and social communication disorder. BMC psychiatry. 2023; 23(1): 831.

BACKGROUND: In the Diagnostic and Statistical Manual and Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) and social (pragmatic) communication disorder (SCD) were described as a new category of psychiatry nosography. SCD involves impairments in social communication and social interaction but not restricted, repetitive patterns of behavior, interests, or activities. The autism spectrum quotient (AQ) was developed to screen for autism tendencies in adults with normal intelligence. However, AQ cutoff scores for screening ASD and SCD in the DSM-5 have not been established. This study examined whether the Japanese version of the AQ (AQ-J) total scores could discriminate between an ASD group, an SCD group, and a neurotypical (NT) group. METHODS: Participants were 127 ASD patients, 52 SCD patients, and 49 NT individuals. Receiver operating characteristic (ROC) analyses were used to examine AQ-J total score cutoff values to distinguish between ASD and NT groups, SCD and NT groups, and ASD and SCD groups. RESULTS: In the ROC analysis for the ASD and NT groups, the area under the curve (AUC) was 0.96, and the optimum cutoff value was 23 points (sensitivity 92.9%, specificity 85.7%). The AUC for the SCD and NT groups was 0.89, and the optimum cutoff value was 22 points (sensitivity 84.6%, specificity 85.7%). The AUC for the ASD and SCD groups was 0.75; the optimum cutoff value was 32 points (sensitivity 67.7%, specificity 71.2%). CONCLUSION: Our findings suggest the usefulness of the AQ-J in screening for ASD and SCD.

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13. Zhan XL, Pan N, Karatela S, Shi L, Wang X, Liu ZY, Jing J, Li XH, Cai L, Lin LZ. Correction: Infant feeding practices and autism spectrum disorder in US children aged 2-5 years: the national survey of children’s health (NSCH) 2016-2020. International breastfeeding journal. 2023; 18(1): 61.

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