1. Babb C, Brede J, Jones CRG, Elliott M, Zanker C, Tchanturia K, Serpell L, Mandy W, Fox JRE. ‘It’s not that they don’t want to access the support . . . it’s the impact of the autism’ : The experience of eating disorder services from the perspective of autistic women, parents and healthcare professionals. Autism. 2021 : 1362361321991257.

This study explores autistic women’s experiences of eating disorder services. About 20%-30% of people with anorexia nervosa are also autistic, and current treatments seem not to work as well for them. We interviewed 15 autistic women with experience of anorexia nervosa, 12 parents of autistic women with anorexia nervosa, and 11 healthcare professionals working in eating disorder services. We asked autistic women and parents about their experiences of eating disorder services, and we asked healthcare professionals about their experiences treating autistic women with anorexia nervosa. Participants’ views were represented by three overall themes : misunderstanding autism and autistic traits, one treatment does not fit all, and improving accessibility and engagement within services. We found that autistic women face many barriers when in treatment for anorexia nervosa, often because of a lack of autism understanding within eating disorder services. Future research should look at developing anorexia nervosa treatments that can specifically help autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

2. Drill RB, Bellini S. Combining Readers Theater, Story Mapping and Video Self-Modeling Interventions to Improve Narrative Reading Comprehension in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2021.

Individuals with Autism Spectrum Disorder (ASD) demonstrate atypical development, resulting in significant deficits in perspective-taking and observational learning. Children with ASD tend to have challenges in social interactions and academic performance, such as comprehending narrative texts, which heavily rely on accurate understanding of the thoughts and feelings of others. However, the current literature provides limited information on effective interventions to address these areas. The present study expands the existing research base by combining Readers Theater, story mapping, and video self-modeling, three separate research-based interventions, into an intervention package for children with ASD. A multiple-baseline across participants design was utilized. Overall, the results indicate that the intervention package successfully improved reading comprehension. Implications and suggestions for future research are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

3. Ducroizet A. View of ASD Diagnosis and Prognosis. J Dev Behav Pediatr. 2021.

Lien vers le texte intégral (Open Access ou abonnement)

4. Hull L, Levy L, Lai MC, Petrides KV, Baron-Cohen S, Allison C, Smith P, Mandy W. Is social camouflaging associated with anxiety and depression in autistic adults ?. Mol Autism. 2021 ; 12(1) : 13.

BACKGROUND : There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health. METHODS : This study explored the relationship between self-reported camouflaging and generalised anxiety, depression, and social anxiety in a large sample of autistic adults and, for the first time, explored the moderating effect of gender, in an online survey. RESULTS : Overall, camouflaging was associated with greater symptoms of generalised anxiety, depression, and social anxiety, although only to a small extent beyond the contribution of autistic traits and age. Camouflaging more strongly predicted generalised and social anxiety than depression. No interaction between camouflaging and gender was found. LIMITATIONS : These results cannot be generalised to autistic people with intellectual disability, or autistic children and young people. The sample did not include sufficient numbers of non-binary people to run separate analyses ; therefore, it is possible that camouflaging impacts mental health differently in this population. CONCLUSIONS : The findings suggest that camouflaging is a risk factor for mental health problems in autistic adults without intellectual disability, regardless of gender. We also identified levels of camouflaging at which risk of mental health problems is highest, suggesting clinicians should be particularly aware of mental health problems in those who score at or above these levels.

Lien vers le texte intégral (Open Access ou abonnement)

5. Jensen K, Noazin S, Bitterfeld L, Carcelen A, Vargas-Cuentas NI, Hidalgo D, Valenzuela A, Roman-Gonzalez A, Krebs C, Clement V, Nolan C, Barrientos F, Mendoza AK, Noriega-Donis P, Palacios C, Ramirez A, Vittet M, Hafeez E, Torres-Viso M, Velarde M, Moulton LH, Powers MD, Gilman RH, Zimic M. Autism Detection in Children by Combined Use of Gaze Preference and the M-CHAT-R in a Resource-Scarce Setting. J Autism Dev Disord. 2021.

Most children with autism spectrum disorder (ASD), in resource-limited settings (RLS), are diagnosed after the age of four. Our work confirmed and extended results of Pierce that eye tracking could discriminate between typically developing (TD) children and those with ASD. We demonstrated the initial 15 s was at least as discriminating as the entire video. We evaluated the GP-MCHAT-R, which combines the first 15 s of manually-coded gaze preference (GP) video with M-CHAT-R results on 73 TD children and 28 children with ASD, 36-99 months of age. The GP-MCHAT-R (AUC = 0.89 (95%CI : 0.82-0.95)), performed significantly better than the MCHAT-R (AUC = 0.78 (95%CI : 0.71-0.85)) and gaze preference (AUC = 0.76 (95%CI : 0.64-0.88)) alone. This tool may enable early screening for ASD in RLS.

Lien vers le texte intégral (Open Access ou abonnement)

6. Jonak CR, Sandhu MS, Assad SA, Barbosa JA, Makhija M, Binder DK. The PDE10A Inhibitor TAK-063 Reverses Sound-Evoked EEG Abnormalities in a Mouse Model of Fragile X Syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2021.

Fragile X syndrome (FXS) is a genetic neurodevelopmental syndrome characterized by increased anxiety, repetitive behaviors, social communication deficits, delayed language development, and abnormal sensory processing. Recently, we have identified electroencephalographic (EEG) biomarkers that are conserved between the mouse model of FXS (Fmr1 KO mice) and humans with FXS. In this study, we test a specific candidate mechanism for engagement of multielectrode array (MEA) EEG biomarkers in the FXS mouse model. We administered TAK-063, a potent, selective, and orally active phosphodiesterase 10A (PDE10A) inhibitor, to Fmr1 KO mice, and examined its effects on MEA EEG biomarkers. We demonstrate significant dose-related amelioration of inter-trial phase coherence (ITPC) to temporally modulated auditory stimuli by TAK-063 in Fmr1 KO mice. Our data suggest that TAK-063 improves cortical auditory stimulus processing in Fmr1 KO mice, without significantly depressing baseline EEG power or causing any noticeable sedation or behavioral side effects. Thus, the PDE10A inhibitor TAK-063 has salutary effects on normalizing EEG biomarkers in a mouse model of FXS and should be pursued in further translational treatment development.

Lien vers le texte intégral (Open Access ou abonnement)

7. Kütük M, Tufan AE, Kılıçaslan F, Güler G, Çelik F, Altıntaş E, Gökçen C, Karadağ M, Yektaş Ç, Mutluer T, Kandemir H, Büber A, Topal Z, Acikbas U, Giray A, Kütük Ö. Correction to : High Depression Symptoms and Burnout Levels Among Parents of Children with Autism Spectrum Disorders : A Multi‑Center, Cross‑Sectional, Case-Control Study. J Autism Dev Disord. 2021.

Lien vers le texte intégral (Open Access ou abonnement)

8. McParland A, Gallagher S, Keenan M. Investigating Gaze Behaviour of Children Diagnosed with Autism Spectrum Disorders in a Classroom Setting. J Autism Dev Disord. 2021.

A defining feature of ASD is atypical gaze behaviour, however, eye-tracking studies in ‘real-world’ settings are limited, and the possibility of improving gaze behaviour for ASD children is largely unexplored. This study investigated gaze behaviour of ASD and typically developing (TD) children in their classroom setting. Eye-tracking technology was used to develop and pilot an operant training tool to positively reinforce typical gaze behaviour towards faces. Visual and statistical analyses of eye-tracking data revealed different gaze behaviour patterns during live interactions for ASD and TD children depending on the interaction type. All children responded to operant training with longer looking times observed on face stimuli post training. The promising application of operant gaze training in ecologically valid settings is discussed.

Lien vers le texte intégral (Open Access ou abonnement)

9. Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S. Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings. J Autism Dev Disord. 2021.

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings.

Lien vers le texte intégral (Open Access ou abonnement)

10. Ruelle-Le Glaunec L, Inquimbert P, Hugel S, Schlichter R, Bossu JL. [Nociception pain and autism]. Medecine sciences : M/S. 2021 ; 37(2) : 141-51.

Autistic subjects frequently display sensory anomalies. Those regarding nociception and its potential outcome, pain, are of crucial interest. Indeed, because of numerous comorbidities, autistic subjects are more often exposed to painful situation. Despite being often considered as less sensitive, experimental studies evaluating this point are failing to reach consensus. Using animal model can help reduce variability and bring, regarding autism, an overview of potential alterations of the nociceptive system at the cellular and molecular level.

Lien vers le texte intégral (Open Access ou abonnement)

11. Sakamoto Y, Shimoyama S, Furukawa T, Adachi M, Takahashi M, Mikami T, Kuribayashi M, Osato A, Tsushima D, Saito M, Ueno S, Nakamura K. Copy number variations in Japanese children with autism spectrum disorder. Psychiatric genetics. 2021.

OBJECTIVE : Although autism spectrum disorder (ASD) occurs worldwide, most genomic studies on ASD were performed on those of Western ancestry. We hypothesized ASD-related copy number variations (CNVs) of Japanese individuals might be different from those of Western individuals. METHODS : Subjects were recruited from the Hirosaki 5-year-old children’s developmental health check-up (HFC) between 2013 and 2016 (ASD group ; n = 68, control group ; n = 124). This study conducted CNV analysis using genomic DNA from peripheral blood of 5-year-old Japanese children. Fisher’s exact test was applied for profiling subjects and CNV loci. RESULTS : Four ASD-related CNVs : deletion at 12p11.1, duplications at 4q13.2, 8p23.1 and 18q12.3 were detected (P = 0.015, 0.024, 0.009, 0.004, respectively). Specifically, the odds ratio of duplication at 18q12.3 was highest among the 4 CNVs (odds ratio, 8.13). CONCLUSIONS : Four CNVs : microdeletion at 12p11.1, microduplications at 4q13.2, 8p23.1 and 18q12.3 were detected as ASD-related CNVs in Japanese children in this study. Although these CNVs were consistent with several reports by Western countries at cytoband levels, these did not consistent at detailed genomic positions and sizes. Our data indicate the possibility that these CNVs are characteristic of Japanese children with ASD. We conclude that Japanese individuals with ASD may harbor CNVs different from those of Western individuals with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Thompson C, Milbourn B, Taylor JL, Falkmer T, Bölte S, Evans K, Girdler S. Experiences of Parents of Specialist Peer Mentored Autistic University Students. Dev Neurorehabil. 2021 : 1-11.

ABSTRCT Background : Parents continue to support to autistic university students, and consequently, experience considerable stress. Aim : To explore the experiences of parents of specialist peer mentored university students and to examine these using the ICF as a theoretical framework. Method : Thirteen semi-structured interviews were completed and analyzed using thematic analysis. Directive content analysis linked the data to the ICF core set for autism spectrum disorders (ASD). Results : Five interrelated themes emerged : The mentoring relationship is a facilitator, Developing skills for university, Mentoring changes lives, Mentoring is not a substitute for other supports, and University is an emotional rollercoaster. Specialist peer mentoring was linked to Activity and Participation (44%) and Environmental factors (32%) of the ICF core set for ASD. Conclusion : These results add to the specialist peer mentoring evidence-base, and indicate perceived benefits for autistic university students and their parents. An unintended consequence was that parents broadened their participation in activities.

Lien vers le texte intégral (Open Access ou abonnement)

13. Toraman B, Bilginer S, Tural Hesapcioglu S, Göker Z, Soykam HO, Ergüner B, Dinçer T, Yildiz G, Ünsal S, Kasap BK, Kandil S, Kalay E. Finding Underlying Genetic Mechanisms of Two Patients with Autism Spectrum Disorder Carrying Familial Apparently Balanced Chromosomal Translocations. The journal of gene medicine. 2021 : e3322.

BACKGROUND : Genetic etiologies of Autism Spectrum Disorders (ASD) are complex, and genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers in identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases, so far. In this study, we aimed to find the causative genetic factors in patients with ASD that have apparently balanced chromosomal translocation in their karyotypes. METHODS : For mapping the broken genes due to chromosomal translocations we performed whole genome DNA sequencing with HiSeq X (Illuminina®) platform at 30X depth. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined with delly and svABA tools after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF-BED intersect and Gemini tools on the galaxy platform, respectively. Targeted resequencing approach was performed on JMJD1C gene in all ASD cohorts of us (220 patients) by Illumina’s Miseq® platform. For molecular modeling we used homology modelling approach by SWISS-MODEL. RESULTS : We found that there was not any contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. CONCLUSIONS : Genetic etiologies of ASD should be analyzed comprehensively by taking in to account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns.

Lien vers le texte intégral (Open Access ou abonnement)

14. Yakubova G, Chen BB. Examining the Effects of Parent-Created and Parent-Implemented Video Prompting to Teach Daily Living Skills to an Adolescent with Autism. J Autism Dev Disord. 2021 : 1-13.

Teaching parents how to create their own video-prompting (VP) and implement it to help their children learn daily living tasks at home can be empowering for parents. Using a multiple probe across three tasks design, we examined the effects of parent-created and parent-implemented VP and error correction strategy on teaching three daily living tasks to a 14-year-old child with autism spectrum disorder (ASD). Following a one-time training and continuous coaching, a parent successfully created a VP intervention for all three tasks and implemented VP with error correction with high fidelity. Following the intervention implementation, the child with ASD learned to complete daily living tasks with high levels of accuracy and maintained task completion at a 1-week follow-up.

Lien vers le texte intégral (Open Access ou abonnement)