1. Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Khetarpal SM, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H. GIGYF1 disruption associates with autism and impaired IGF-1R signaling. J Clin Invest;2022 (Aug 2)

Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. Excess of likely gene-disruptive (LGD) mutations of GIGYF1 was implicated in ASD. Here, we reported that GIGYF1 was the second most mutated gene among known ASD high-confidence risk genes. We investigated the inheritance of 46 GIGYF1 LGD variants, including the highly recurrent mutation, c.333del:p.L111Rfs*234. Inherited GIGYF1 heterozygous LGD variants were 1.8 times more common than de novo mutations. Unlike most high-confidence genes, ASD individuals with GIGYF1 LGD variants were less likely to have cognitive impairments. Using a Gigyf1 conditional knockout mouse model, we showed that haploinsufficiency in the developing brain led to social impairments without significant cognitive impairments. In contrast, homozygous mice showed more severe social disability as well as cognitive impairments. Gigyf1 deficiency in mice led to a reduction of upper layer cortical neurons accompanied by decreased proliferation and increased differentiation of neural progenitor cells. We showed that GIGYF1 regulated the recycling of IGF-1R to cell surface. Knockout of GIGYF1 led to a decreased level of IGF-1R on the cell surface disrupting the IGF-1R/ERK signaling pathway. In summary, our findings showed that GIGYF1 was a regulator of IGF-1R recycling. Haploinsufficiency of GIGYF1 was associated with autistic behaviors likely through interference with IGR-1R/ERK signaling pathway.

Lien vers le texte intégral (Open Access ou abonnement)

2. Conti E, Turi M, Craig F. Editorial: Autism spectrum disorder within neurodevelopmental disorders: Catching heterogeneity, specificity, and comorbidity in clinical phenotypes and neurobiological bases. Front Neurosci;2022;16:958650.

Lien vers le texte intégral (Open Access ou abonnement)

3. Deng L, Rattadilok P. A Sensor and Machine Learning-Based Sensory Management Recommendation System for Children with Autism Spectrum Disorders. Sensors (Basel);2022 (Aug 3);22(15)

Sensory processing issues are one of the most common issues observed in autism spectrum disorders (ASD). Technologies that could address the issue serve a more and more important role in interventions for ASD individuals nowadays. In this study, a sensory management recommendation system was developed and tested to help ASD children deal with atypical sensory responses in class. The system employed sensor fusion and machine learning techniques to identify distractions, anxious situations, and the potential causes of these in the surroundings. Another novelty of the system included a sensory management strategy making a module based on fuzzy logic, which generated alerts to inform teachers and caregivers about children’s states and risky environmental factors. Sensory management strategies were recommended to help improve children’s attention or calm children down. The evaluation results suggested that the use of the system had a positive impact on children’s performance and its design was user-friendly. The sensory management recommendation system could work as an intelligent companion for ASD children that helps with their in-class performance by recommending management strategies in relation to the real-time information about the children’s environment.

Lien vers le texte intégral (Open Access ou abonnement)

4. El-Ansary A, Al-Onazi M, Alhowikan AM, Alghamdi MA, Al-Ayadhi L. Assessment of a combination of plasma anti-histone autoantibodies and PLA2/PE ratio as potential biomarkers to clinically predict autism spectrum disorders. Sci Rep;2022 (Aug 3);12(1):13359.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficiencies in social interaction and repetitive behaviors. Multiple studies have reported abnormal cell membrane composition and autoimmunity as known mechanisms associated with the etiopathogenesis of ASD. In this study, multiple regression and combined receiver operating characteristic (ROC) curve as statistic tools were done to clarify the relationship between phospholipase A2 and phosphatidylethanolamine (PE) ratio (PLA2/PE) as marker of lipid metabolism and membrane fluidity, and antihistone-autoantibodies as marker of autoimmunity in the etiopathology of ASD. Furthermore, the study intended to define the linear combination that maximizes the partial area under an ROC curve for a panel of markers. Forty five children with ASD and forty age- and sex-matched controls were enrolled in the study. Using ELISA, the levels of antihistone-autoantibodies, and PLA2 were measured in the plasma of both groups. PE was measured using HPLC. Statistical analyses using ROC curves and multiple and logistic regression models were performed. A notable rise in the area under the curve was detected using combined ROC curve models. Additionally, higher specificity and sensitivity of the combined markers were documented. The present study indicates that the measurement of the predictive value of selected biomarkers related to autoimmunity and lipid metabolism in children with ASD using a ROC curve analysis should lead to a better understanding of the pathophysiological mechanism of ASD and its link with metabolism. This information may enable the early diagnosis and intervention.

Lien vers le texte intégral (Open Access ou abonnement)

5. Haghighat H, Mirzarezaee M, Araabi BN, Khadem A. A sex-dependent computer aided diagnosis system for autism spectrum disorder using connectivity of resting-state fMRI. J Neural Eng;2022 (Aug 3)

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder with the main symptoms of social communication disabilities. ASD is more than four times more common among males than females. The diagnosis of ASD is currently a subjective process by experts the same for males and females. Various studies have suggested the use of brain connectivity features for diagnosis of ASD. Also, sex-related biological factors have been shown to play a role in ASD etiology and influence the brain connectivity. Therefore, proposing an accurate computer aided diagnosis system (CADS) for ASD which consider the sex of subjects seems necessary. In this study, we present a sex-dependent connectivity-based CADS for ASD using resting-state functional magnetic resonance imaging (rs-fMRI). The proposed CADS classifies ASD males from normal males, and ASD females from normal females. After data preprocessing, group independent component analysis (GICA) was applied to obtain the resting-state networks (RSNs) followed by applying dual-regression to obtain the time course of each RSN for each subject. Afterwards, functional connectivity (FC) measures of full correlation and partial correlation and effective connectivity (EC) measure of bivariate granger causality were computed between time series of RSNs. To consider the role of sex differences in the classification process, male, female, and mixed groups were taken into account, and feature selection and classification were designed for each sex group separately. At the end, the classification accuracy was computed for each sex group. In the female group, the classification accuracy of 93.3% was obtained using full correlation while in the male group the classification accuracy of 86.7% was achieved using each of full correlation and bivariate granger causality. Also, in the mixed group, the classification accuracy of 83.3% was obtained using full correlation. This supports the importance of considering sex in diagnosing ASD patients from normal controls (NCs).

Lien vers le texte intégral (Open Access ou abonnement)

6. Hyatt CJ, Wexler BE, Pittman B, Nicholson A, Pearlson GD, Corbera S, Bell MD, Pelphrey K, Calhoun VD, Assaf M. Atypical Dynamic Functional Network Connectivity State Engagement during Social-Emotional Processing in Schizophrenia and Autism. Cereb Cortex;2022 (Aug 3);32(16):3406-3422.

Autism spectrum disorder (ASD) and schizophrenia (SZ) are separate clinical entities but share deficits in social-emotional processing and static neural functional connectivity patterns. We compared patients’ dynamic functional network connectivity (dFNC) state engagement with typically developed (TD) individuals during social-emotional processing after initially characterizing such dynamics in TD. Young adults diagnosed with ASD (n = 42), SZ (n = 41), or TD (n = 55) completed three functional MRI runs, viewing social-emotional videos with happy, sad, or neutral content. We examined dFNC of 53 spatially independent networks extracted using independent component analysis and applied k-means clustering to windowed dFNC matrices, identifying four unique whole-brain dFNC states. TD showed differential engagement (fractional time, mean dwell time) in three states as a function of emotion. During Happy videos, patients spent less time than TD in a happy-associated state and instead spent more time in the most weakly connected state. During Sad videos, only ASD spent more time than TD in a sad-associated state. Additionally, only ASD showed a significant relationship between dFNC measures and alexithymia and social-emotional recognition task scores, potentially indicating different neural processing of emotions in ASD and SZ. Our results highlight the importance of examining temporal whole-brain reconfiguration of FNC, indicating engagement in unique emotion-specific dFNC states.

Lien vers le texte intégral (Open Access ou abonnement)

7. Kenworthy L, Childress D, Armour AC, Verbalis A, Zhang A, Troxel M, Handsman R, Kocher K, Myrick Y, Werner M, Alexander KC, Cannon L, Anthony LG. Leveraging technology to make parent training more accessible: Randomized trial of in-person versus online executive function training for parents of autistic children. Autism;2022 (Aug 2):13623613221111212.

This study compared the first online parent training program for executive function intervention for autism to in-person parent training on the same content. Participants were parents of autistic children, who were between 8 and 12 years of age and did not have intellectual disability. Parents were randomized to the in-person (n = 51) or online (n = 46) training conditions. Both trainings were developed with stakeholder (parents and autistic people) guidance. In this trial, most parents reported that they liked both trainings and that they were able to implement what they learned with their children. Parents in both groups spent equivalent amounts of time (about 8 hours) with the training materials, but while 94% of parents in the in-person training attended both parent trainings, only 59% of parents in the online group completed all 10 online modules. Parents reported that it was difficult to stay motivated to complete the online trainings over the 10-week trial. Parent and child outcomes did not differ significantly between the groups. Overall, parents reported that the trainings resulted in a reduction in their own parenting strain and improvements in their child’s flexibility, emotional control, and global executive function, but not planning and organization. These findings indicated brief in-person and online training can help parents learn to support and improve their autistic children’s executive function abilities, reducing their own experience of parenting strain. The finding that the online training was equivalent to the in-person trainings is important because it is accessible to parents who encounter barriers to in-person care.

Lien vers le texte intégral (Open Access ou abonnement)

8. Ketcheson LR, Wengrovius CM, Staples KL, Miodrag N. MYTime: A Mindfulness and Yoga Program to Promote Health Outcomes in Parents of Children With Autism Spectrum Disorder. Glob Adv Health Med;2022;11:2164957X221110154.

BACKGROUND: Parenting a child with Autism Spectrum Disorder can be stressful and result in health consequences for the caregivers, a population that is often overlooked and underserved. While mind-body interventions such as mindfulness yoga can help promote positive health outcomes, limited research has explored the impact of such a program on caregivers of children on the autism spectrum. OBJECTIVE: The primary objective of this pilot study was to evaluate the effects of a 12-week mindfulness yoga program (MYtime) on perceived stress, anxiety, and depression among urban caregivers of children on the autism spectrum. METHODS: Twenty-seven parents were randomized into either MYTime (n = 13) or the control group (n = 14). Perceived Stress Scale (PSS) and Depression, Anxiety, and Stress Scale (DASS) were administered. RESULTS: The MYTime group reported lower stress, depression and anxiety while the control group maintained similar scores across pre- and post-assessment. Following 12 weeks of participation the PSS and DASS scores improved by 25% and 49% respectively for parents in the MYTime group. In comparison, PSS scores worsened by 5% and DASS scores improved by 17% for the Control group. Differences in pre-and post-assessment scores were not significant for either group (P > .05). CONCLUSION: The results from this pilot study indicate that a mindfulness yoga program could be considered among feasible interventions aimed at improving the health of parents of children on the autism spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

9. Kohn BH, Vidal P, Chiao R, Pantalone DW, Faja S. Sexual Knowledge, Experiences, and Pragmatic Language in Adults With and Without Autism: Implications for Sex Education. J Autism Dev Disord;2022 (Aug 3):1-17.

Autistic adults have similar levels of desire for sexual and romantic relationships as their non-autistic peers. However, autistic adults are less likely to be in relationships and have less dating experience. We compared sexual knowledge, experiences, and pragmatic language ability in a community sample of young adults with (n = 27, mean age = 22.11) and without autism (n = 122, mean age = 19.47). Receipt of sex education and sexual knowledge did not differ between groups. However, autistic adults had significantly fewer partnered experiences and impaired pragmatic language. Within both groups, pragmatic skill predicted accurate sexual knowledge above and beyond general communication abilities. Findings suggest that sex education for autistic adults must address the social communication component of healthy romantic and sexual relationships.

Lien vers le texte intégral (Open Access ou abonnement)

10. Lake JK, Volpe T, St John L, Thakur A, Steel L, Baskin A, Durbin A, Chacra MA, Lunsky Y. Mental health and COVID-19: The impact of a virtual course for family caregivers of adults with intellectual and developmental disabilities. J Intellect Disabil Res;2022 (Aug);66(8-9):677-689.

BACKGROUND: The COVID-19 pandemic has significantly impacted family caregivers of adults with intellectual and developmental disabilities (IDD). This study evaluated a virtual course for family caregivers from across Canada, focused on supporting the mental health and well-being of adults with IDD and their families. The evaluation examined the feasibility and acceptability of the course, as well as the impact of the intervention on participants’ overall health and well-being. METHODS: The 6-week virtual course, informed by a parallel Extension for Community Healthcare Outcomes (ECHO) course for service providers, combined didactic instruction with applied activities. A total of 126 family caregiver course participants consented to be part of the research evaluation delivered over three cycles between October 2020 and April 2021. Attendance was measured at each weekly session. Satisfaction was assessed weekly and post-program. Learning, self-efficacy, and well-being were assessed pre- and post-course, and again at follow-up (8 weeks post-course). Mixed-effects models assessed changes between and within individuals across time. RESULTS: Participants had consistent attendance, low-dropout rates, and reported high satisfaction, with 93% of participants reporting that their expectations for the course were met. Compared with pre-course, participants reported improved self-efficacy and well-being post-course, which were maintained at follow-up. CONCLUSIONS: An interactive and applied virtual education course delivered to a large group of family caregivers of adults with IDD was both feasible and acceptable. It positively impacted participants’ well-being by offering much needed mental health support and creating a peer-led community of practice.

Lien vers le texte intégral (Open Access ou abonnement)

11. Lee JK, Andrews DS, Ozturk A, Solomon M, Rogers S, Amaral DG, Nordahl CW. Altered Development of Amygdala-Connected Brain Regions in Males and Females with Autism. J Neurosci;2022 (Aug 3);42(31):6145-6155.

Altered amygdala development is implicated in the neurobiology of autism, but little is known about the coordinated development of the brain regions directly connected with the amygdala. Here we investigated the volumetric development of an amygdala-connected network, defined as the set of brain regions with monosynaptic connections with the amygdala, in autism from early to middle childhood. A total of 950 longitudinal structural MRI scans were acquired from 282 children (93 female) with autism and 128 children with typical development (61 female) at up to four time points (mean ages: 39, 52, 64, and 137 months, respectively). Volumes from 32 amygdala-connected brain regions were examined using mixed effects multivariate distance matrix regression. The Social Responsiveness Scale-2 was administered to assess degree of autistic traits and social impairments. The amygdala-connected network exhibited persistent diagnostic differences (p values ≤ 0.03) that increased over time (p values ≤ 0.02). These differences were most prominent in autistics with more impacted social functioning at baseline. This pattern was not observed across regions without monosynaptic amygdala connection. We observed qualitative sex differences. In males, the bilateral subgenual anterior cingulate cortices were most affected, while in females the left fusiform and superior temporal gyri were most affected. In conclusion, (1) autism is associated with widespread alterations to the development of brain regions connected with the amygdala, which were associated with autistic social behaviors; and (2) autistic males and females exhibited different patterns of alterations, adding to a growing body of evidence of sex differences in the neurobiology of autism.SIGNIFICANCE STATEMENT Global patterns of development across brain regions with monosynaptic connection to the amygdala differentiate autism from typical development, and are modulated by social functioning in early childhood. Alterations to brain regions within the amygdala-connected network differed in males and females with autism. Results also indicate larger volumetric differences in regions having monosynaptic connection with the amygdala than in regions without monosynaptic connection.

Lien vers le texte intégral (Open Access ou abonnement)

12. Lopez-Espejo MA, Nuñez AC, Ruz M, Saez V, Moscoso OC, Escobar RG. Caregiver-Child Agreement in Health-Related Quality of Life of Autistic Children and Adolescents. J Autism Dev Disord;2022 (Aug 3):1-10.

This study examined the agreement of perceived health-related quality of life (HRQOL) between caregivers and autistic children and adolescents (n = 133, 5-12 years) using the Pediatric Quality of Life Inventory Generic Core Scales, Fourth Edition (PedsQL 4.0). Results reveal good to excellent agreement over this age range across the total, physical, and psychosocial health scales. However, the emotional, social, and school functioning scores demonstrated lower agreement in dyads with children aged 5-7 than in dyads with children aged 8-12 years. Despite these differences in agreement, overall, the PedsQL 4.0 caregiver-module is a reliable instrument for measuring HRQOL in autistic individuals aged 5-12 years.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lupindo BM, Maw A, Shabalala N. Late diagnosis of autism: exploring experiences of males diagnosed with autism in adulthood. Curr Psychol;2022 (Aug 3):1-17.

Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder associated with qualitative impairments in social interaction, social communication and restricted, repetitive behaviour (American Psychiatric Association, 2013). Symptoms of ASD are first evident in infancy and childhood. However, individuals presenting with less overt ASD symptomatology may only be diagnosed in adulthood, when the expectation of independence and productivity results in a growing crisis for the individual. This study applied an exploratory qualitative research design to explore first-hand experiences of ten adult males (25 years and above) who were diagnosed with autism during their adulthood. Purposive sampling was used to select participants through the Neurodiversity Centre, Cape Town, South Africa. In-depth one-on-one interviews, guided by a semi-structured interview schedule were conducted. The thematic analysis technique and NVivo 12 qualitative analysis software were used to organise the data and identify themes. Three key themes emerged: failure to diagnose ASD in childhood despite signs and symptoms, ramifications of missed/misdiagnosis in childhood and adulthood on psychological well-being and the impact of receiving a diagnosis of ASD in adulthood. Missed/misdiagnosis had serious implications for psychological well-being throughout childhood and into adulthood. Late diagnosis resulted in missed opportunities for early intervention to address impairments associated with ASD. Receiving a diagnosis provided an explanation for long standing difficulties, offered a way forward in terms of developing coping strategies and allowed for self-acceptance. The implications of these findings for the development of better early screening and assessment for ASD are discussed and future research pathways suggested.

Lien vers le texte intégral (Open Access ou abonnement)

14. Marrus N, Koth KA, Hellings JA, McDonald R, Gwynette MF, Muhle R, Lohr WD, Vasa RA. Psychiatry training in autism spectrum disorder and intellectual disability: Ongoing gaps and emerging opportunities. Autism;2022 (Aug 3):13623613221112197.

Children, adolescents, and adults with autism spectrum disorder and intellectual disability experience high rates of co-occurring psychiatric conditions throughout their lifetime. However, there is a shortage of psychiatrists to treat these populations. We evaluated how much education psychiatrists-in-training receive on how to care for individuals with autism spectrum disorder/intellectual disability. We found that in many psychiatry programs, residents receive limited training experiences in autism spectrum disorder/intellectual disability involving lectures and patient contact and that psychiatry program directors would benefit from more resources to strengthen education in autism spectrum disorder/intellectual disability.

Lien vers le texte intégral (Open Access ou abonnement)

15. McGowan K, Berends D, Hudry K, Vivanti G, Dissanayake C, Bent CA. Brief report: bidirectional association of core autism features and cognitive abilities in early childhood. J Autism Dev Disord;2022 (Aug 2)

We explored associations among the core behavioural features and developmental/cognitive abilities of 155 autistic children, assessed between ages 13-67 months and again around 1-year later to understand predictive directionality. Bidirectional, cross-domain association was apparent, albeit with stronger direction of effect from earlier cognition to later autism features (than vice versa). Exploratory sub-domain analysis showed that early non-verbal developmental/cognitive abilities (only) predicted subsequent social- and restricted/repetitive autism features, whereas early social features (only) predicted both subsequent verbal and non-verbal abilities. Although observational study design precludes causal inference, these data support contemporary notions of the developmental interconnectedness of core autism presentation and associated abilities-that behavioural autism features may influence cognitive development, but are likely also influenced by an individuals’ cognitive capacity.

Lien vers le texte intégral (Open Access ou abonnement)

16. McHugh CL, Dozier CL, Diaz de Villegas SC, Kanaman NA. Using synchronous reinforcement to increase mask wearing in adults with intellectual and developmental disabilities. J Appl Behav Anal;2022 (Aug 3)

In 2020 the Centers for Disease Control provided the public with recommendations to slow the spread of COVID-19 by wearing a mask in the community. In the current study, experimenters coached group home staff via telehealth to implement synchronous schedules of reinforcement to increase mask wearing for 5 adults with intellectual and developmental disabilities. Results showed the intervention effectively increased mask wearing for all participants for up to 30 min. Additionally, some participants for whom we assessed generalization of mask wearing demonstrated generalization to various community environments. Furthermore, procedural integrity data suggested staff could be coached via telehealth to implement the intervention, and staff surveys suggested the procedures and coaching were socially valid.

Lien vers le texte intégral (Open Access ou abonnement)

17. Mori H, Hirota T, Monden R, Takahashi M, Adachi M, Nakamura K. School Social Capital Mediates Associations Between ASD Traits and Depression Among Adolescents in General Population. J Autism Dev Disord;2022 (Aug 2)

Though autism spectrum disorder (ASD) traits are associated with depression, it is unclear if school social capital mediates their association. We examined whether school social capital mediates the association between ASD traits and depression, and moderation effect of sex on the mediation effect among adolescents in a general population sample (1750 males, 1779 females; equivalent 12-15 years old). The results of this study indicate that ASD traits are associated with depression among adolescents, and that this association is partly mediated by school social capital. Furthermore, the results of the moderated mediation analysis suggest that lower level of school social capital can lead to more increase level of depression for females than for males.

Lien vers le texte intégral (Open Access ou abonnement)

18. Pokorny FB, Schmitt M, Egger M, Bartl-Pokorny KD, Zhang D, Schuller BW, Marschik PB. Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome. Sci Rep;2022 (Aug 3);12(1):13345.

Fragile X syndrome (FXS) and Rett syndrome (RTT) are developmental disorders currently not diagnosed before toddlerhood. Even though speech-language deficits are among the key symptoms of both conditions, little is known about infant vocalisation acoustics for an automatic earlier identification of affected individuals. To bridge this gap, we applied intelligent audio analysis methodology to a compact dataset of 4454 home-recorded vocalisations of 3 individuals with FXS and 3 individuals with RTT aged 6 to 11 months, as well as 6 age- and gender-matched typically developing controls (TD). On the basis of a standardised set of 88 acoustic features, we trained linear kernel support vector machines to evaluate the feasibility of automatic classification of (a) FXS vs TD, (b) RTT vs TD, (c) atypical development (FXS+RTT) vs TD, and (d) FXS vs RTT vs TD. In paradigms (a)-(c), all infants were correctly classified; in paradigm (d), 9 of 12 were so. Spectral/cepstral and energy-related features were most relevant for classification across all paradigms. Despite the small sample size, this study reveals new insights into early vocalisation characteristics in FXS and RTT, and provides technical underpinnings for a future earlier identification of affected individuals, enabling earlier intervention and family counselling.

Lien vers le texte intégral (Open Access ou abonnement)

19. Reis D, Fricke O, Schulte AG, Schmidt P. Is examining children and adolescents with autism spectrum disorders a challenge?-Measurement of Stress Appraisal (SAM) in German dentists with key expertise in paediatric dentistry. PLoS One;2022;17(8):e0271406.

OBJECTIVES: This questionnaire-based validation study investigated if the dental examination of children and adolescents with autism spectrum disorder is viewed by dentists with key expertise in paediatric dentistry as a challenge or a threat in terms of transactional stress theory. The Stress Appraisal Measure (SAM) was used for this purpose and it’s feasibility and validity was examined as a first part of a multi-stage process for validation in dentistry with a sample of German dentists. It has hardly been investigated how the treatment of children and adolescents with a disorder from the autism spectrum is perceived by dentists. METHODS: An online-based survey (39 questions) plus the SAM as an add-on as well as a preceding short story of imagination on the topic (appointment for a dental check-up in a special school) were developed. Via e-mail members of the German Society of Paediatric Dentistry (DGKiZ) received a link which enabled interested members to participate. The majority of the members of the DGKiZ have additional qualifications in the treatment of children and adolescents and further training in the area of special needs care in dentistry. The data analysis was based on the SAM and its subscales. RESULTS: Out of the 1.725 members of DGKiZ 92 participants (11 male, 81 female) fully completed the questionnaire and the SAM. All in all the dentists rated their own psychological and physical stress in course of treating children and adolescents with a disorder from the autism spectrum between less and partly stressful. Although the structure of the SAM could not be fully mapped by means of a factor analysis, the different ratings « challenge » or « threat » could be comprehensibly evaluated after reading the story. The participants rated the situation from the story in general as challenging but not as threatening. Intercorrelations between the subscales of the SAM (e.g threat and centrality) of r = .56 showed that the scales are not clearly independent of one another. According to the transactional stress model, the SAM bases on, stress (perceived stressfulness) arises from appraisal processes (e.g. threat, controllable-by-self) that bring about a comparison between the requirements for the described situation and one’s own possibilities in terms of a person-environment-fit. In the hierarchical regression a variance of R2 = .48 could be explained with all six subscales (appraisal processes) to predict perceived stressfulness of the SAM within a sample of dentists. CONCLUSIONS: Due to the response rate the results of the SAM are not representative for all German dentists, but it offers an insight into topics of special needs dentistry in Germany that have not yet been examined. Overall, the feasibility and validity of the SAM in the context of mapping cognitive appraisal processes and stress could be confirmed. Taking into account the result that the treatment of children and adolescents with autism spectrum disorder is seen as a challenge, it is concluded that there is a need to improve the education of dental students and graduated dentists in Germany in the field of special needs dentistry.

Lien vers le texte intégral (Open Access ou abonnement)

20. Rivard M, Morin D, Coulombe P, Morin M, Mello C. The Diagnostic Period for Autism: Risk and Protective Factors for Family Quality of Life in Early Childhood. J Autism Dev Disord;2022 (Aug 2)

During the diagnostic evaluation period for autism or intellectual disability (ID), families of young children are at risk for poor adjustment. The present study aimed to document family quality of life (FQOL), along with associated risk and protective factors, during this critical step of families’ services trajectory. FQOL was measured in a large sample of families of children recently diagnosed with a neurodevelopmental disorder and examined in relation to the type of services received, children’s clinical profile, and family variables. FQOL was related to types of services, children’s challenging behavior, parenting stress, and several aspects of family composition and status. These findings highlight a need for mental health support for parents, coaching interventions for challenging behaviors, and family-centered supports.

Lien vers le texte intégral (Open Access ou abonnement)

21. Samanta P, Panigrahi A, Senapati LK, Mishra DP, Ravan JR, Mishra J. Maladaptive Behavior and Associated Factors among Young Children with Autism. Indian J Pediatr;2022 (Aug 2)

The present study assessed the prevalence of clinically significant maladaptive behaviors and associated factors among young male children diagnosed with autism. A cross-sectional study including mothers of 88 male children with autism aged 2 to 5 y old was conducted in the year 2019. Using the Child Behavior Checklist (CBCL), mothers rated their child’s maladaptive behaviors. CBCL overall scores in the clinically relevant range were found in 76 (86.4%) children with autism (87.5% and 42% children had clinically significant internalizing and externalizing problems, respectively). Withdrawn (94.3%), attention problems (60.2%), and sleep problems (53.4%) were the predominant CBCL syndrome scales. Sociodemographic factors like autism severity and caffeine consumption were found to be significantly associated with maladaptive behaviors. There is an urgent need for designing effective behavioral management strategies incorporating various risk factors to enhance the quality of life among these vulnerable children.

Lien vers le texte intégral (Open Access ou abonnement)

22. Wolstencroft J, Wicks F, Srinivasan R, Wynn S, Ford T, Baker K, Chawner S, Hall J, van den Bree MBM, Owen MJ, Skuse D, Raymond FL. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. Lancet Psychiatry;2022 (Sep);9(9):715-724.

BACKGROUND: Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to determine the effect of genomics, inheritance, and socioeconomic deprivation on neuropsychiatric risk in children with intellectual disability of genetic origin as compared with the general population. METHODS: IMAGINE is a prospective cohort study using online mental health and medical assessments in a cohort of 3407 UK participants with intellectual disability and pathogenic genomic variants as identified by the UK’s National Health Service (NHS). Our study is on a subset of these participants, including all children aged 4-19 years. We collected diagnostic genomic reports from NHS records and asked primary caregivers to provide an assessment of their child using the Development and Well-Being Assessment (DAWBA), the Strengths and Difficulties Questionnaire (SDQ), the Adaptive Behaviour Assessment System 3 (ABAS-3), and a medical history questionnaire. Each child was assigned a rank based on their postcode using the index of multiple deprivation (IMD). We compared the IMAGINE cohort with the 2017 National Survey of Children’s Mental Health in England. The main outcomes of interest were mental health and neurodevelopment according to the DAWBA and SDQ. FINDINGS: We recruited 2770 children from the IMAGINE study between Oct 1, 2014 and June 30, 2019, of whom 2397 (86•5%) had a basic assessment of their mental health completed by their families and 1277 (46•1%) completed a medical history questionnaire. The mean age of participants was 9•2 years (SD 3•9); 1339 (55•9%) were boys and 1058 (44•1%) were girls. 355 (27•8%) of 1277 reported a seizure disorder and 814 (63•7%) reported movement or co-ordination problems. 1771 (73•9%) of 2397 participants had a pathogenic copy number variant (CNV) and 626 (26•1%) had a pathogenic single nucleotide variant (SNV). Participants were representative of the socioeconomic spectrum of the UK general population. The relative risk (RR) of co-occurring neuropsychiatric diagnoses, compared with the English national population, was high: autism spectrum disorder RR 29•2 (95% CI 23•9-36•5), ADHD RR 13•5 (95% CI 11•1-16•3). In children with a CNV, those with a familial variant tended to live in more socioeconomically deprived areas than those with a de novo variant. Both inheritance and socioeconomic deprivation contributed to neuropsychiatric risk in those with a CNV. INTERPRETATION: Children with genomic variants and intellectual disability are at an increased risk of neuropsychiatric difficulties. CNV variant inheritance and socioeconomic deprivation also contribute to the risk. Early genomic investigations of children with intellectual disability could facilitate the identification of the most vulnerable children. Additionally, harnessing parental expertise using online DAWBA assessments could rapidly identify children with exceptional needs to child mental health services. FUNDING: UK Medical Research Council and Medical Research Foundation.

Lien vers le texte intégral (Open Access ou abonnement)

23. Yerys BE, McQuaid GA, Lee NR, Wallace GL. Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life. Autism;2022 (Aug 2):13623613221112198.

Outcomes for autistic adults are generally poor, including activities of daily living and self-ratings of quality of life. Co-occurring psychiatric conditions contribute to these poor outcomes. Attention-deficit/hyperactivity disorder is one of the most common co-occurring conditions in autistic individuals. However, we know little about the association between attention-deficit/hyperactivity disorder symptoms and outcomes in autistic adults. A total of 724 autistic adults (18-83 years; 58% female) recruited from the Simons Foundation Powering Autism Research participant registry completed questionnaires on demographics, co-occurring psychiatric conditions, activities of daily living, and subjective quality of life. Autistic adults who rated themselves as having more attention-deficit/hyperactivity disorder symptoms also rated themselves as having less independence in activities of daily living and a lower quality of life. This is the first study to show these relationships in autistic adults. These findings highlight that additional research and better supports for co-occurring attention-deficit/hyperactivity disorder symptoms may be critical to improving independence and quality of life for autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)