1. Alenezi S, Almadani A, Al Tuwariqi M, Alzahrani F, Alshabri M, Khoja M, Al Dakheel K, Alghalayini K, Alkadi N, Aljebreen S, Alzahrani R. Burnout, Depression, and Anxiety Levels among Healthcare Workers Serving Children with Autism Spectrum Disorder. Behavioral sciences (Basel, Switzerland). 2022; 12(1).

Burnout in healthcare workers (HCWs) is defined as a state of emotional, physical, and mental exhaustion that results from unmanaged, excessive, and long-term workplace stressors. This study aims to assess the prevalence of burnout and the levels of anxiety and depression among HCWs who primarily work with children who have autism spectrum disorder (ASD). A quantitative cross-sectional survey was conducted utilizing the Arabic version of the Maslach Burnout Inventory (MBI), Areas of Worklife Survey (AWS), Patient Health Questionnaire for Generalized Anxiety Disorder (GAD-7), and Patient Health Questionnaire for Depression (PHQ-9). Among the 381 participants working in autism centers, the majority were young Saudi females (326) working full-time as specialists in the private sector with less than five years of experience. The HCWs’ overall mean scores on the three Maslach Burnout Inventory (MBI) subscales: emotional exhaustion (EE), depersonalization (DP), and personal accomplishment (PA) were 62%, 23.7%, and 76.5%, respectively. A total of 51.4% of HCWs reported moderate to high anxiety levels on GAD-7, and 47.8% showed moderate to very high levels of depression on PHQ-9. The mean perceived EE converged significantly but negatively on their overall mean perceived satisfaction with AWS (p-value < 0.001), demonstrating that greater emotional fatigue predicts less satisfaction with their work. The PA scores correlated significantly and positively with their overall mean satisfaction with their AWS score (p-value < 0.001). Considering sociodemographic variables, HCWs aged between 20-29 years have significantly lower mean PA scores than HCWs aged thirty and older (p = 0.007). Also, male HCWs perceived significantly higher work-related DP than females. More research is required to determine the nature of variables that contribute to burnout, depression, and anxiety in HCWs helping children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

2. Alhakbany M, Al-Ayadhi L, El-Ansary A. CTRP3 as a novel biomarker in the plasma of Saudi children with autism. PeerJ. 2022; 10: e12630.

BACKGROUND: C1q/tumor necrosis factor-related protein-3 (CTRP3) has diverse functions: anti-inflammation, metabolic regulation, and protection against endothelial dysfunction. METHODS: The plasma level of CTRP3 in autistic patients (n = 32) was compared to that in controls (n = 37) using ELISA. RESULTS: CTRP3 was higher (24.7% with P < 0.05) in autistic patients than in controls. No association was observed between CTRP3 and the severity of the disorder using the Childhood Autism Rating Scale (CARS). A positive correlation between CARs and the age of patients was reported. Receiver operating characteristic (ROC) analysis demonstrated a low area under the curve (AUC) for all patients (0.636). Low AUCs were also found in the case of severe patients (0.659) compared to controls, but both values were statistically significant (P ≤ 0.05). Despite the small sample size, we are the first to find an association between CTRP3 and autism spectrum disorder (ASD).

Lien vers le texte intégral (Open Access ou abonnement)

3. Cage E, McManemy E. Burnt Out and Dropping Out: A Comparison of the Experiences of Autistic and Non-autistic Students During the COVID-19 Pandemic. Frontiers in psychology. 2021; 12: 792945.

Autistic students are more likely to drop out of university, while facing both challenges and opportunities within university environments. This study compared the experiences of autistic and non-autistic current United Kingdom students, in terms of thoughts about dropping out, burnout, mental health and coping, during the COVID-19 pandemic. Burnout was of particular interest as this is a relatively unexamined phenomenon for autistic students. Seventy autistic and 315 non-autistic students, completed a mixed methods questionnaire with standardized measures of burnout (personal and academic), mental health (depression, stress, and anxiety), and coping styles (adaptive and maladaptive). We also included qualitative questions about dropping out and COVID-19 experiences. We found autistic participants experienced higher rates of burnout and mental health symptoms and were more likely to have thought about dropping out. Reasons given for thinking about dropping out, for both groups, focused on poor mental well-being, doubts about university, and academic challenges. For autistic participants, further analyses did not identify specific predictors of thinking about dropping out, but for non-autistic participants, this was predicted by maladaptive coping styles and academic burnout. Academic and personal burnout predicted one another for autistic students, and age, maladaptive coping, autistic characteristics, stress, and anxiety additionally predicted burnout for non-autistic students. Similarities in experiences during the pandemic were noted, with both groups experiencing negative social implications, difficulties adjusting to emergency online learning, and poorer psychological well-being. Moving forward from COVID-19, universities must find ways to enhance both academic and social support, to enable equal opportunity within Higher Education for autistic students.

Lien vers le texte intégral (Open Access ou abonnement)

4. Domínguez-Lucio S, Compañ-Gabucio LM, Torres-Collado L, de la Hera MG. Occupational Therapy Interventions Using New Technologies in Children and Adolescents with Autism Spectrum Disorder: A Scoping Review. Journal of autism and developmental disorders. 2022.

New technologies (NT) are increasingly used in Occupational Therapy (OT) interventions in people with Autism Spectrum Disorder (ASD). We conducted a scoping review to describe OT interventions investigated in scientific literature which use NT in children and adolescents with ASD. Two authors independently searched the scientific databases PubMed, EMBASE, Scopus and Web of Science, carried out a peer-review screening of articles and extracted data. Twenty studies met the inclusion criteria. OT interventions lasted between 1 week and 12 months, consisted of between 1 session per day and 5 sessions per week, were carried out exclusively by an occupational therapist, and the most used NT was the computer (n = 12). The duration of the interventions and assessment measures used varied greatly between studies.

Lien vers le texte intégral (Open Access ou abonnement)

5. Ezell J, Hogan A, Will EA, Smith K, Roberts J. Cardiac Startle Response and Clinical Outcomes in Preschool Children With Fragile X Syndrome and Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 729127.

Objective: Poor physiological regulation in response to threat is linked to multiple negative developmental outcomes including anxiety, which is highly prevalent and impairing in young children with neurodevelopmental disabilities like fragile X syndrome (FXS) and autism spectrum disorder (ASD). The present study contrasted cardiac startle response in pre-school-aged children with FXS, with and without ASD, to children with non-syndromic ASD (nsASD) and neurotypical controls (NT). The relationship of cardiac startle to non-verbal mental age (NVMA), ASD severity, and parent-reported anxiety was also examined. Method: Four age-matched groups of pre-school children participated including those with FXS without ASD (FXS-Only, n = 21), FXS with ASD (FXS+ASD, n = 17), nsASD (n = 42), and NT children (n = 27). Participants viewed a silent movie during which a single 200 ms 98-decibel white noise burst occurred. Cardiac activity was analyzed for pre-stimulus respiratory sinus arrhythmia (RSA) and the inter-beat intervals (IBI) at the auditory stimulus and 10 s post-stimulus. The Spence Pre-school Anxiety Scale, Autism Diagnostic Observation Schedule-2nd Edition, and Mullen Scales of Early Learning were examined in relation to startle response. Results: The nsASD group demonstrated heightened cardiac activity at the auditory stimulus and 10 s post-stimulus compared to the NT controls. Neither of the FXS groups showed differences from any other group. Higher pre-stimulus RSA was associated with reduced cardiac response across groups, while the relationship between cognitive ability and ASD severity to cardiac response varied between groups. Parent-reported anxiety was not associated with cardiac response for any group. Conclusion: These findings demonstrate group distinctions in cardiac responses to auditory startle. Although FXS and ASD share behavioral characteristics, the nsASD group showed a heightened cardiac startle response compared to the NT group that was not present in the FXS groups with or without ASD. Non-verbal mental age was associated with greater stimulus or post-stimulus reactivity for all groups except the FXS+ASD group, which showed no association between startle response and any clinical outcomes. Increased understanding of the relationship between physiological regulation and clinical outcomes will assist in identifying the timing and targets for effective interventions for individuals with neurodevelopmental disabilities.

Lien vers le texte intégral (Open Access ou abonnement)

6. Feng Y, Zhou X, Liu Q, Deng T, Qin X, Chen B, Zhang L. Symptom severity and posttraumatic growth in parents of children with autism spectrum disorder: The moderating role of social support. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 602-13.

Parents of children with autism spectrum disorder (ASD) experience posttraumatic growth (PTG). No study has investigated the moderating effect of social support and family function between symptom severity and PTG. The study aims to examine whether social support and family function moderate the relationship between symptom severity and PTG among parents of children with ASD. Using a cross-sectional design, a total of 385 parents of children with ASD were recruited from September 2019 to November 2020 by convenience sampling. Participants completed the Posttraumatic Growth Inventory, Social Support Rating Scale, Autism Behavior Checklist, and Family Apgar Index. Both social support (r = 0.354, p < 0.01) and family function (r = 0.379, p < 0.05) were significantly related to PTG. Although symptom severity was not significantly related to PTG (p > 0.05), social support moderated the correlation between symptom severity and PTG [β(SE) = -0.134 (0.719), p < 0.01, 95% CI = (-3.552, -0.723)]; the positive association was stronger for low social support [β(SE) = 0.145 (0.054), t = 2.675, p < 0.01, 95% CI = (0.038, 0.252)], while the negative association was weaker for high social support [β(SE) = -0.121 (0.051), t = -2.378, p < 0.05, 95% CI = (-0.221, -0.021)]. Family function did not moderate the relationship (p > 0.05). Higher social support appears to buffer the detrimental effect of symptom severity on PTG, and social support seems to be an important factor when delivering interventions aimed at decreasing symptom severity and improving positive growth. LAY SUMMARY: Both social support and family function were positively associated with PTG. Providing sufficient perceived social support and enhancing family function promoted parents’ positive psychological experience. Higher social support seemed to buffer the detrimental effect of symptom severity on PTG, and it could be an important intervention target for improving the psychological growth of parents of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

7. Ferreira H, Sousa AC, Sereno J, Martins J, Castelo-Branco M, Gonçalves J. Sex-Dependent Social and Repetitive Behavior and Neurochemical Profile in Mouse Model of Autism Spectrum Disorder. Metabolites. 2022; 12(1).

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction, impaired communication, and repetitive behaviors. ASD presents a 3:1 ratio of diagnosed boys and girls, raising the question regarding sexual dimorphic mechanisms underlying ASD symptoms, and their molecular basis. Here, we performed in vivo proton magnetic resonance spectroscopy in juvenile male and female Tsc2(+/)(-) mice (an established genetic animal model of ASD). Moreover, behavior and ultrasonic vocalizations during social and repetitive tasks were analyzed. We found significant sexual dimorphisms in the levels of metabolites in the hippocampus and prefrontal cortex. Further, we observed that female mutant animals had a differential social behavior and presented an increase in repetitive behavior. Importantly, while mutant females displayed a more simplified communication during social tasks, mutant males exhibited a similar less complex vocal repertoire but during repetitive tasks. These results hint toward sex-dependent alterations in molecular and metabolic pathways, which can lead to the sexual dimorphic behaviors and communication observed in social and repetitive environments.

Lien vers le texte intégral (Open Access ou abonnement)

8. Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, Papiol S, Adams MJ, Adolfsson R, Adorjan K, Agartz I, Aminoff SR, Anderson-Schmidt H, Andreassen OA, Ardau R, Aubry JM, Balaban C, Bass N, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Boks MP, Bromet EJ, Brosch K, Budde M, Byerley W, Cervantes P, Chillotti C, Cichon S, Clark SR, Comes AL, Corvin A, Coryell W, Craddock N, Craig DW, Croarkin PE, Cruceanu C, Czerski PM, Dalkner N, Dannlowski U, Degenhardt F, Del Zompo M, DePaulo JR, Djurovic S, Edenberg HJ, Eissa MA, Elvsåshagen T, Etain B, Fanous AH, Fellendorf F, Fiorentino A, Forstner AJ, Frye MA, Fullerton JM, Gade K, Garnham J, Gershon E, Gill M, Goes FS, Gordon-Smith K, Grof P, Guzman-Parra J, Hahn T, Hasler R, Heilbronner M, Heilbronner U, Jamain S, Jimenez E, Jones I, Jones L, Jonsson L, Kahn RS, Kelsoe JR, Kennedy JL, Kircher T, Kirov G, Kittel-Schneider S, Klöhn-Saghatolislam F, Knowles JA, Kranz TM, Lagerberg TV, Landen M, Lawson WB, Leboyer M, Li QS, Maj M, Malaspina D, Manchia M, Mayoral F, McElroy SL, McInnis MG, McIntosh AM, Medeiros H, Melle I, Milanova V, Mitchell PB, Monteleone P, Monteleone AM, Nöthen MM, Novak T, Nurnberger JI, O’Brien N, O’Connell KS, O’Donovan C, O’Donovan MC, Opel N, Ortiz A, Owen MJ, Pålsson E, Pato C, Pato MT, Pawlak J, Pfarr JK, Pisanu C, Potash JB, Rapaport MH, Reich-Erkelenz D, Reif A, Reininghaus E, Repple J, Richard-Lepouriel H, Rietschel M, Ringwald K, Roberts G, Rouleau G, Schaupp S, Scheftner WA, Schmitt S, Schofield PR, Schubert KO, Schulte EC, Schweizer B, Senner F, Severino G, Sharp S, Slaney C, Smeland OB, Sobell JL, Squassina A, Stopkova P, Strauss J, Tortorella A, Turecki G, Twarowska-Hauser J, Veldic M, Vieta E, Vincent JB, Xu W, Zai CC, Zandi PP, Di Florio A, Smoller JW, Biernacka JM, McMahon FJ, Alda M, Müller-Myhsok B, Koutsouleris N, Falkai P, Freimer NB, Andlauer TFM, Schulze TG, Ophoff RA. Characterisation of age and polarity at onset in bipolar disorder. The British journal of psychiatry : the journal of mental science. 2021; 219(6): 659-69.

BACKGROUND: Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools. AIMS: To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics. METHOD: Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts. RESULTS: Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = -0.34 years, s.e. = 0.08), major depression (β = -0.34 years, s.e. = 0.08), schizophrenia (β = -0.39 years, s.e. = 0.08), and educational attainment (β = -0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO. CONCLUSIONS: AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.

Lien vers le texte intégral (Open Access ou abonnement)

9. Papadopoulos A, Tafiadis D, Tsapara A, Skapinakis P, Tzoufi M, Siafaka V. Validation of the Greek version of the Affiliate Stigma Scale among mothers of children with autism spectrum disorder. BJPsych open. 2022; 8(1): e30.

BACKGROUND: Caregivers of children with autism spectrum disorder (ASD) are sensitive to the internalisation of the stigma, known as affiliate stigma, resulting in reduced self-esteem, isolation and poor psychological well-being. AIMS: This study aims to validate the Greek version of the Affiliate Stigma Scale (ASS) among mothers of children with ASD. METHOD: The translated version of ASS in Greek was administered to 53 mothers of children newly diagnosed with ASD in two time periods: 1-6 months from diagnosis (time point 1) and 12 months from the initial assessment (time point 2). The control group consisted of 62 mothers of typically developing children. RESULTS: The ASS total mean score revealed a moderate level of stigma to the ASD group in both assessments. The reliability measures by item showed a satisfactory composite reliability (affective 0.828, cognitive 0.833, behaviour 0.857). Cronbach’s alpha revealed that the estimated internal consistency was excellent (α = 0.888), and it found a high positive item-total correlation. Receiver operating characteristic analysis results indicated a statistically significant positive discrimination (area under the curve 0.849, P = 0.000) between the groups. The cut-off point was 31.00, with a sensitivity of 0.849 and a 1 – sensitivity of 0.258. CONCLUSIONS: The proposed version of the ASS has good psychometric properties and is valid and reliable for measuring affiliate stigma among caregivers of children with ASD in Greece. Health professionals can use it to assess and understand the stigma experienced by caregivers of children with ASD, and design appropriate interventions to reduce their affiliate stigma.

Lien vers le texte intégral (Open Access ou abonnement)

10. Raleva M, Stancheva-Popkostadinova V, Pejovic-Milovancevic M. Editorial: Psychiatric Comorbidities in Children and Adolescents With ASD and in Typically Developing Children. Frontiers in psychiatry. 2021; 12: 817978.

Lien vers le texte intégral (Open Access ou abonnement)

11. Rhine CL, Neil C, Wang J, Maguire S, Buerer L, Salomon M, Meremikwu IC, Kim J, Strande NT, Fairbrother WG. Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes. PLoS genetics. 2022; 18(1): e1009884.

To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants out of 725 coding de novo variants discovered in the sequencing of ASD families. A redesign of the minigene constructs in MaPSY revealed that upstream exons with strong 5′ splice sites increase the magnitude of skipping phenotypes observed in downstream exons. Select hits were validated by RT-PCR and amplicon sequencing in patient cell lines. Exonic splicing mutants were enriched in probands relative to unaffected siblings -especially synonymous variants (7.5% vs 3.5%, respectively). Of the 26 genes disrupted by exonic splicing mutations, 6 were in known ASD genes and 3 were in paralogs of known ASD genes. Of particular interest was a synonymous variant in TNRC6C – an ASD gene paralog with interactions with other ASD genes. Clinical records of 3 ASD patients with TNRC6C variant revealed respiratory issues consistent with phenotypes observed in TNRC6 depleted mice. Overall, this study highlights the need for splicing analysis in determining variant pathogenicity, especially as it relates to ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Ringbom I, Suvisaari J, Kääriälä A, Sourander A, Gissler M, Ristikari T, Gyllenberg D. Psychiatric disorders diagnosed in adolescence and subsequent long-term exclusion from education, employment or training: longitudinal national birth cohort study. The British journal of psychiatry : the journal of mental science. 2022; 220(3): 148-53.

BACKGROUND: Long-term ‘not in education, employment or training’ (NEET) status is an important indicator of youth marginalisation. AIMS: To carry out a comprehensive overview of the associations between different psychiatric illnesses and long-term NEET status. METHOD: We used the register-based 1987 Finnish Birth Cohort study, which includes all live births in Finland during that year. The analyses comprised 55 273 individuals after exclusions for intellectual disability, death or emigration. We predicted that psychiatric disorders, diagnosed by specialist services between 1998 and 2007 when the cohort were 10-20 years of age, would be associated with subsequent long-term NEET (defined as NEET for at least 5 years between 2008 and 2015, when they were 20-28 years of age). RESULTS: In total, 1438 individuals (2.6%) were long-term NEET during follow-up and the associations between long-term NEET and the 11 diagnostic categories we studied were statistically significant (P < 0.001). In multivariate models we included sociodemographic characteristics and upper secondary education as covariates, and the highest effect sizes, measured by odds ratios (OR) with 95% confidence intervals (CI), were found for psychosis (OR = 12.0, 95% CI 9.5-15.2) and autism spectrum disorder (OR = 17.3, 95% CI 11.5-26.0). If individuals had not successfully completed this education, 70.6% of those with autism spectrum disorder and 48.4% of those with psychosis were later long-term NEET. CONCLUSIONS: Adolescents who receive treatment for psychiatric disorders, particularly autism spectrum disorder or psychosis, need support to access education and employment. This could help to prevent marginalisation in early adulthood.

Lien vers le texte intégral (Open Access ou abonnement)

13. Roe K. Autism Spectrum Disorder Initiation by Inflammation-Facilitated Neurotoxin Transport. Neurochemical research. 2022; 47(5): 1150-65.

Autism spectrum disorders have been linked to genetics, gut microbiota dysbiosis (gut dysbiosis), neurotoxin exposures, maternal allergies or autoimmune diseases. Two barriers to ingested neurotoxin transport into the central nervous system of a fetus or child are the gastrointestinal wall of the mother or child and the blood-brain barrier of the fetus or child. Inflammation from gut dysbiosis or inflammation from a disease or other agent can increase the gastrointestinal wall and the blood-brain barrier permeabilities to enable neurotoxins to reach the brain of a fetus or child. Postnatal gut dysbiosis is a particular inflammation risk for autism spectrum disorders caused by neurotoxin transport into a child’s brain. An extensive gut dysbiosis or another source of inflammation such as a disease or other agent in combination with neurotoxins, including aluminum, mercury, lead, arsenic, cadmium, arsenic, organophosphates, and neurotoxic bacterial toxins and fungal toxins resulting from the gut dysbiosis, can elevate neurotoxin levels in a fetal or child brain to cause neurodevelopmental damage and initiate an autism spectrum disorder. The neurotoxins aluminum and mercury are especially synergistic in causing neurodevelopmental damage. There are three plausible causational pathways for autism spectrum disorders. They include inflammation and neurotoxin loading into the fetal brain during the prenatal neurodevelopment period, inflammation and neurotoxin loading into the brain during the postnatal neurodevelopment period or a two-stage loading of neurotoxins into the brain during both the prenatal and postnatal neurodevelopment periods.

Lien vers le texte intégral (Open Access ou abonnement)

14. Takeichi T, Lee JYW, Okuno Y, Miyasaka Y, Murase Y, Yoshikawa T, Tanahashi K, Nishida E, Okamoto T, Ito K, Muro Y, Sugiura K, Ohno T, McGrath JA, Akiyama M. Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation. Frontiers in immunology. 2021; 12: 737747.

Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK1 mutation, H596D, in an individual with a unique autoinflammatory keratinization disease associated with early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice with an identical Jak1 knock-in missense mutation (Jak1 (H595D/+;I596I/+;Y597Y/+) mice) that recapitulated key aspects of the human phenotype. RNA sequencing of samples isolated from the Jak1 (H595D/+;I596I/+;Y597Y/+) mice revealed the upregulation of genes associated with the hyperactivation of tyrosine kinases and NF-κB signaling. Interestingly, there was a strong correlation between genes downregulated in Jak1 (H595D/+;I596I/+;Y597Y/+) mice and those downregulated in the brain of model mice with 22q11.2 deletion syndrome that showed cognitive and behavioral deficits, such as autism spectrum disorders. Our findings expand the phenotypic spectrum of JAK1-associated disease and underscore how JAK1 dysfunction contributes to this autoinflammatory disorder.

Lien vers le texte intégral (Open Access ou abonnement)

15. Tóth O, Pesthy O, Farkas K, Guttengéber A, Komoróczy E, Réthelyi JM, Szuromi B, Németh D. Intact fluency in autism? A comprehensive approach of verbal fluency task including word imageability and concreteness. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 677-86.

Verbal fluency is a cognitive function reflecting executive functions and the ability to retrieve the appropriate information from memory quickly. Previous studies reported conflicting results-impaired and intact verbal fluency-in autism spectrum disorder (ASD). Most studies concentrate on overall word productivity, errors, perseverations, clustering, or switching. We used a comprehensive approach to evaluate the reported discrepancy in the literature and introduced a new angle using the concept of word abstraction and imageability. Moreover, we analyzed the performance in two-time intervals (0-30 s and 31-60 s) to assess the temporal dynamics of verbal fluency and a possible activation or initiation deficit in autism. Sixteen adults with ASD and 16 neurotypical control participants, matched by gender, age, and education level, participated in our study. Contrary to our expectations, we did not find a significant difference between groups in word productivity, the number of errors, clustering, or temporal dynamics, neither in semantic nor in phonemic fluency tasks. Surprisingly, the two study groups’ performance did not differ in terms of imageability or concreteness characteristics either. Our results raise the possibility that verbal fluency performance is intact in autism. We also suggest using a comprehensive approach when measuring fluency in autism. LAY SUMMARY: People with autism tend to think and communicate differently. In our study, we tested whether people with autism come up with more concrete or imageable words and whether their performance is better compared with neurotypicals in the beginning or in the later phase of a task measuring how many words they can produce in a minute. We did not detect any difference between the two groups; however, we recommend studying verbal fluency in autism from more and different angles in the future.

Lien vers le texte intégral (Open Access ou abonnement)

16. Tran J, Chen JW, Trapp L, McCormack L. An Investigation of the Long and Short Term Behavioral Effects of General Anesthesia on Pediatric Dental Patients With Autism. Frontiers in oral health. 2021; 2: 679946.

Purpose: The purpose of this study was to compare the incidence of short and long term adverse behavioral effects of general anesthesia (GA) in healthy vs. moderate to severe autistic (ASD) children. Methods: Forty healthy and 37 ASD children, aged 3-17 years, undergoing GA for dental surgery participated in this study. Their anesthesia records were reviewed, and their parents answered telephone surveys to assess activity level, sleep disturbances, gastrointestinal disturbances, central nervous system effects, and respiratory depression. Three follow-up surveys were taken 8 h, 24 h, and 3 months post-surgery. Results: Four hundred fifty-five incidences of adverse behavioral effects occurred within 8 h post-surgery. Significantly more ASD patients had difficulty walking (P = 0.016) and nausea (P = 0.030), while more healthy children snored in the car ride home (P = 0.036) and talked about the dental surgery (P = 0.027). Three months post-discharge, sixASD patients acted in a way that concerned caregivers compared to 0 healthy patients, (P = 0.008). Incidence of adverse behavioral effects significantly decreased from 8 to 24 h overall. Conclusions: Most behavioral effects occur within 8 h post-surgery. There are potential long term adverse behavioral effects in ASD children from GA, but the chance is low and generally not long lasting.

Lien vers le texte intégral (Open Access ou abonnement)

17. Turowetz J. Interaction order and the labeling of disorder: How parents mobilize personal knowledge in the clinic to resist medicalization of their children’s behavior. Social science & medicine (1982). 2022; 294: 114719.

This paper examines how parents of children diagnosed with autism resist the medicalization of their children’s behavior. Drawing on video and ethnographic data collected over four years of fieldwork at a clinic for developmental disorders, the paper distinguishes two orders of practice – that of the clinic and that of the family – and argues that behavior which is interpreted as disordered in the clinic may be seen as ordinary in the home. These different interpretations reflect and renew distinct orders of sensemaking in the clinic and home, and parents may mobilize familial knowledge of the child to counter the medicalization of specific behavior patterns, even where they otherwise accept an autism diagnosis. In showing how medicalization and labelling are achieved and resisted in the mundane details of social interaction, the paper contributes to studies of diagnosis, disability, and deviance. Further, the myriad ways parents and clinicians contest which regions of a child’s behavior get medicalized – i.e. which behavioral patterns are labeled disordered – present a challenge to binary conceptions of medicalization, recommending instead a more nuanced model of medicalization as a multi-dimensional continuum: more or less, rather than either-or.

Lien vers le texte intégral (Open Access ou abonnement)

18. Uono S, Sato W, Kochiyama T, Yoshimura S, Sawada R, Kubota Y, Sakihama M, Toichi M. The structural neural correlates of atypical facial expression recognition in autism spectrum disorder. Brain imaging and behavior. 2022.

Previous studies have demonstrated that individuals with autism spectrum disorder (ASD) are worse at recognizing facial expressions than are typically developing (TD) individuals. The present study investigated the differences in structural neural correlates of emotion recognition between individuals with and without ASD using voxel-based morphometry (VBM). We acquired structural MRI data from 27 high-functioning adults with ASD and 27 age- and sex-matched TD individuals. The ability to recognize facial expressions was measured using a label-matching paradigm featuring six basic emotions (anger, disgust, fear, happiness, sadness, and surprise). The behavioural task did not find deficits of emotion recognition in ASD after controlling for intellectual ability. However, the VBM analysis for the region of interest showed a positive correlation between the averaged percent accuracy across six basic emotions and the grey matter volume of the right inferior frontal gyrus in TD individuals, but not in individuals with ASD. The VBM for the whole brain region under each emotion condition revealed a positive correlation between the percent accuracy for disgusted faces and the grey matter volume of the left dorsomedial prefrontal cortex in individuals with ASD, but not in TD individuals. The different pattern of correlations suggests that individuals with and without ASD use different processing mechanisms for recognizing others’ facial expressions.

Lien vers le texte intégral (Open Access ou abonnement)

19. Yoshikawa H, Kitamura S, Matsuoka K, Takahashi M, Ishida R, Kishimoto N, Yasuno F, Yasuda Y, Hashimoto R, Miyasaka T, Kichikawa K, Kishimoto T, Makinodan M. Adverse Childhood Experience Is Associated With Disrupted White Matter Integrity in Autism Spectrum Disorder: A Diffusion Tensor Imaging Study. Frontiers in psychiatry. 2021; 12: 823260.

Individuals with autism spectrum disorder (ASD) have an increased risk of adverse childhood experiences (ACEs) than typically developed (TD) children. Since multiple lines of studies have suggested that ACEs are related to myelination in the frontal lobe, an exposure to ACEs can be associated with white matter microstructural disruption in the frontal lobe, which may be implicated in subsequential psychological deficits after the adulthood. In this study, we investigated the relationship between ACEs and microstructural integrity on frontal lobe-related white matter tracts using diffusion tensor imaging in 63 individuals with ASD and 38 TD participants. Using a tractography-based analysis, we delineated the uncinate fasciculus (UF), dorsal cingulum (Ci), and anterior thalamic radiation (ATR), which are involved in the neural pathology of ASD, and estimated each diffusion parameter. Compared to the TD participants, individuals with ASD displayed significantly lower fractional anisotropy (FA) and higher radial diffusivity (RD) in the left ATR. Then, ASD individuals exposed to severe ACEs displayed higher RD than those exposed to mild ACEs and TD participants in the left ATR. Moreover, the severity of ACEs, particularly neglect, correlated with lower FA and higher RD in the left UF and ATR in individuals with ASD, which was not observed in TD participants. These results suggest that an exposure to ACEs is associated with abnormality in the frontal lobe-related white matter in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

20. Yu Y, Ruble L, McGrew J, Murray D. Parent Activation Measure for Developmental Disabilities (PAM-DD) in Caregivers of Individuals With ASD. Journal of autism and developmental disorders. 2022.

Activation refers to patients’ belief, knowledge, ability, and persistence to manage care. The concept is adapted to parent activation in developmental disorders. This study examined the psychometrics of the Parent Activation Measure for Developmental Disabilities (PAM-DD) and factors related to parent activation in ASD. Data from 658 caregivers of children with ASD in the Autism Treatment Network Registry Call Back Assessment study were analyzed. The actual ordering of the scale items was inconsistent with the assumptions of a Guttman scaling. Factor analysis revealed two PAM-DD factors. Lower child symptom severity was related to higher Factor 1 and lower Factor 2 activation. Future studies should use caution when treating PAM-DD as a Guttman and unidimensional scale.

Lien vers le texte intégral (Open Access ou abonnement)