1. Autism Spectrum Disorders Across the Life Course and Occupational Therapy Services. Am J Occup Ther;2022 (Nov 1);76(Supplement_3)

The primary purpose of this position statement is to define the role of occupational therapy and the scope of occupational therapy services available for persons on the autism spectrum to audiences external to the occupational therapy profession. In addition, this document is intended to articulate for occupational therapy practitioners the role and support of the practice of occupational therapy for this population.1.

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2. Attar SM, Bradstreet LE, Ramsey RK, Kelly K, Robins DL. Validation of the Electronic Modified Checklist for Autism in Toddlers, Revised with Follow-Up: A Nonrandomized Controlled Trial. J Pediatr;2023 (Feb 1)

OBJECTIVES: To examine the classification rates and screening properties, including sensitivity and specificity, of the web-based Modified Checklist for Autism in Toddler, Revised with Follow-Up (M-CHAT-R/F) compared with paper-phone administration, and to determine the extent to which electronic M-CHAT-R/F streamlines screening, increases screening fidelity, increases diagnostic evaluation participation, and decreases waiting time from screening to evaluation compared with paper-phone modality. STUDY DESIGN: Primary-care practices in urban and suburban settings administered either the web-based or paper-phone M-CHAT-R/F using a prospective nonrandomized control design. Toddlers (n=17,900) were screened between 2009 and 2016 at routine well-child check-ups. Toddlers who screened at risk on the M-CHAT-R/F were invited to complete diagnostic evaluations; 176 children were diagnosed with autism. Chi-square, Fisher’s exact, and t-tests, as well as regression and screening properties were used to compare outcome distributions, screening properties, and implementation by modality. RESULTS: Classification rates of the initial M-CHAT-R into low, medium, and high risk were significantly different across modalities with very small effect sizes. Sensitivity and specificity were high across both modalities. For children in the medium-risk range, the web-based modality had a higher rate of predicting risk for autism after Follow-Up compared with the paper-phone modality, and the web eliminated delay between initial screen and Follow-Up. The web-based modality showed increased screening fidelity, no data loss, and similar rates of evaluation attendance and time to evaluation from Follow-Up administration. CONCLUSIONS: Web-based M-CHAT-R/F is a valid tool for universal autism screening. Systems-level decisions should balance the increased feasibility of the electronic administration with the increase in Follow-Up accuracy is provided by skilled clinician interview.

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3. Bagnall-Moreau C, Spielman B, Brimberg L. Maternal brain reactive antibodies profile in autism spectrum disorder: an update. Transl Psychiatry;2023 (Feb 3);13(1):37.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with multifactorial etiologies involving both genetic and environmental factors. In the past two decades it has become clear that in utero exposure to toxins, inflammation, microbiome, and antibodies (Abs), may play a role in the etiology of ASD. Maternal brain-reactive Abs, present in 10-20% of mothers of a child with ASD, pose a potential risk to the developing brain because they can gain access to the brain during gestation, altering brain development during a critical period. Different maternal anti-brain Abs have been associated with ASD and have been suggested to bind extracellular or intracellular neuronal antigens. Clinical data from various cohorts support the increase in prevalence of such maternal brain-reactive Abs in mothers of a child with ASD compared to mothers of a typically developing child. Animal models of both non-human primates and rodents have provided compelling evidence supporting a pathogenic role of these Abs. In this review we summarize the data from clinical and animal models addressing the role of pathogenic maternal Abs in ASD. We propose that maternal brain-reactive Abs are an overlooked and promising field of research, representing a modifiable risk factor that may account for up to 20% of cases of ASD. More studies are needed to better characterize the Abs that contribute to the risk of having a child with ASD, to understand whether we can we predict such cases of ASD, and to better pinpoint the antigenic specificity of these Abs and their mechanisms of pathogenicity.

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4. Buruma ME, Boeve-van Sleeuwen EAM, Blijd-Hoogewys EMA. [Girls with subtle autism presentation; case reports]. Tijdschr Psychiatr;2023;65(1):16-21.

BACKGROUND: Autism is often missed in girls. Their problems may appear more subtle, but their suffering is not less. AIM: To describe the diagnostic picture of autistic girls. METHOD: Using retrospective file research, the autism behavioral descriptions of 17 girls aged three to ten were reported. RESULTS: There were deficits on the same autism core domains. Girls often had a strong adaptability, and as a result their limitations were expressed differently in different settings. CONCLUSION: For clinicians, it is important to look beyond the technical level of social skills, by more in-depth questioning and by paying attention to the quality of these skills. Clinical expertise in this area is important.

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5. De Moerloose S, Degraeve G, De Smul C, Lemmens G. [Autism spectrum disorder and schizophrenia: a challenging differential diagnosis]. Tijdschr Psychiatr;2023;65(1):46-49.

Autism spectrum disorder and psychotic disorders/schizophrenia are separate disorders in the DSM-5. Due to overlapping symptoms and increased frequency in comorbidity they can be a diagnostic and therapeutic challenge in clinical practice. Relevant literature regarding the correlation between these disorders is discussed and linked to a case-report. An increased prevalence of autism/autistic traits is observed within psychotic patients and vice versa. Common symptoms and risk-factors, but also differential factors, are described. Despite of several hypotheses concerning increased frequency in comorbidity, no clear explanation was found so far. Little is known concerning treatment in case of comorbidity. In this case-report there was significant amelioration after treatment with an atypical antipsychotic. Psycho-education and attention to structuring are also important elements of the treatment plan.

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6. Garrido-Torres N, Guzmán-Torres K, García-Cerro S, Pinilla Bermúdez G, Cruz-Baquero C, Ochoa H, García-González D, Canal-Rivero M, Crespo-Facorro B, Ruiz-Veguilla M. miRNAs as biomarkers of autism spectrum disorder: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry;2023 (Feb 3)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex clinical manifestations that arise between 18 and 36 months of age. Social interaction deficiencies, a restricted range of interests, and repetitive stereotyped behaviors are characteristics which are sometimes difficult to detect early. Several studies show that microRNAs (miRs/miRNAs) are strongly implicated in the development of the disorder and affect the expression of genes related to different neurological pathways involved in ASD. The present systematic review and meta-analysis addresses the current status of miRNA studies in different body fluids and the most frequently dysregulated miRNAs in patients with ASD. We used a combined approach to summarize miRNA fold changes in different studies using the mean values. In addition, we summarized p values for differential miRNA expression using the Fisher method. Our literature search yielded a total of 133 relevant articles, 27 of which were selected for qualitative analysis based on the inclusion and exclusion criteria, and 16 studies evaluating miRNAs whose data were completely reported were ultimately included in the meta-analysis. The most frequently dysregulated miRNAs across the analyzed studies were miR-451a, miR-144-3p, miR-23b, miR-106b, miR150-5p, miR320a, miR92a-2-5p, and miR486-3p. Among the most dysregulated miRNAs in individuals with ASD, miR-451a is the most relevant to clinical practice and is associated with impaired social interaction. Other miRNAs, including miR19a-3p, miR-494, miR-142-3p, miR-3687, and miR-27a-3p, are differentially expressed in various tissues and body fluids of patients with ASD. Therefore, all these miRNAs can be considered candidates for ASD biomarkers. Saliva may be the optimal biological fluid for miRNA measurements, because it is easy to collect from children compared to other biological fluids.

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7. Hsiao JH, An J, Hui VKS, Zheng Y, Chan AB. Author Correction: Understanding the role of eye movement consistency in face recognition and autism through integrating deep neural networks and hidden Markov models. NPJ Sci Learn;2023 (Feb 3);8(1):5.

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8. Jones M, Milbourn B, Falkmer M, Tan T, Bölte S, Girdler S. Strength-based technology clubs for autistic adolescents: A feasibility study. PLoS One;2023;18(2):e0278104.

Strength-based technology clubs are thought to help autistic adolescents transition to adulthood by developing positive traits, enhancing technical skills, and creating supportive networks. A newly developed strength-based technology club was delivered to 25 autistic adolescents, with the feasibility tested via qualitative and quantitative methods. Autistic adolescents, their parents, and club facilitators participated in separate focus groups, with audio data transcribed and thematically analyzed. Quantitative data was collected via adolescent and parent-reported pretest-posttest measures following the 15-week program. Autistic adolescents were highly satisfied with the club (acceptability), the technology club satisfied an unmet need (demand), with the program demonstrating the potential to be integrated into the current therapy system in Australia (integration). Feasibility areas that could be improved in delivering future clubs are discussed.

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9. Mai AS, Yau CE, Tseng FS, Foo QXJ, Wang DQ, Tan EK. Linking autism spectrum disorders and parkinsonism: clinical and genetic association. Ann Clin Transl Neurol;2023 (Feb 4)

BACKGROUND: Autism spectrum disorders (ASD) comprise many complex and clinically distinct neurodevelopmental conditions, with increasing evidence linking them to parkinsonism. METHODS: We searched Medline and Embase from inception to 21 March 2022 and reviewed the bibliographies of relevant articles. Studies were screened and reviewed comprehensively by two independent authors. RESULTS: Of 863 references from our search, we included eight clinical studies, nine genetic studies, and five case reports. Regardless of age group, Parkinson’s disease (PD) and parkinsonian syndromes were more frequently observed in patients with ASD, though the evidence for increased rates of parkinsonism is less clear for children and adolescents. Parkinsonian features and hypokinetic behavior were common in Rett syndrome, with prevalence estimates ranging from 40% to 80%. Frequently observed parkinsonian features include bradykinesia, rigidity, hypomimia, and gait freezing. PD gene PARK2 copy number variations appear more frequently in ASD cases than controls. Evidence suggests that RIT2 and CD157/BST1 are implicated in ASD and PD, while the evidence for other PD-related genes (DRD2, GPCR37, the SLC gene family, and SMPD1) is less clear. Rare mutations, such as ATP13A2, CLN3, and WDR45, could result in autistic behavior and concomitant parkinsonism. CONCLUSION: The prevalence of parkinsonism in ASD is substantially greater than in the general population or matched controls. Various PD-associated gene loci, especially PARK2, could confer susceptibility to ASD as well. Important future directions include conducting prospective cohort studies to understand how parkinsonian symptoms may progress, genetic studies to reveal relevant gene loci, and pathophysiologic studies to identify potential therapeutic targets.

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10. Perochon S, Matias Di Martino J, Carpenter KLH, Compton S, Davis N, Espinosa S, Franz L, Rieder AD, Sullivan C, Sapiro G, Dawson G. A tablet-based game for the assessment of visual motor skills in autistic children. NPJ Digit Med;2023 (Feb 3);6(1):17.

Increasing evidence suggests that early motor impairments are a common feature of autism. Thus, scalable, quantitative methods for measuring motor behavior in young autistic children are needed. This work presents an engaging and scalable assessment of visual-motor abilities based on a bubble-popping game administered on a tablet. Participants are 233 children ranging from 1.5 to 10 years of age (147 neurotypical children and 86 children diagnosed with autism spectrum disorder [autistic], of which 32 are also diagnosed with co-occurring attention-deficit/hyperactivity disorder [autistic+ADHD]). Computer vision analyses are used to extract several game-based touch features, which are compared across autistic, autistic+ADHD, and neurotypical participants. Results show that younger (1.5-3 years) autistic children pop the bubbles at a lower rate, and their ability to touch the bubble’s center is less accurate compared to neurotypical children. When they pop a bubble, their finger lingers for a longer period, and they show more variability in their performance. In older children (3-10-years), consistent with previous research, the presence of co-occurring ADHD is associated with greater motor impairment, reflected in lower accuracy and more variable performance. Several motor features are correlated with standardized assessments of fine motor and cognitive abilities, as evaluated by an independent clinical assessment. These results highlight the potential of touch-based games as an efficient and scalable approach for assessing children’s visual-motor skills, which can be part of a broader screening tool for identifying early signs associated with autism.

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11. Retzler C, Retzler J. Brief Report: Local-Global Processing and Co-occurrence of Anxiety, Autistic and Obsessive-Compulsive Traits in a Non-clinical Sample. J Autism Dev Disord;2023 (Feb 4)

PURPOSE: Increased local-to-global interference has been found in those with ASD, AD and OCD, and as such, may represent a transdiagnostic marker. As a first step to investigating this, we aimed to assess the overlap in traits of these disorders in a non-clinical sample, and whether local-global processing relates to the traits of the three conditions. METHODS: Participants (n = 149) completed questionnaires including the Autism Quotient (AQ), the Obsessive-Compulsive Inventory (OCI-R) and the Zung Self-rating Anxiety Scale (SAS) and an online version of the Navon task. Behavioural metrics of interference and precedence were extracted from the task and correlated with trait scores. RESULTS: We found moderate to strong correlations between the total scores for ASD, anxiety and OCD. Most local-global processing indices did not relate to traits. CONCLUSION: The study found evidence for an overlap in autism, anxiety and obsessive-compulsive traits in a non-clinical sample. However, local-global processing, as measured by the Navon task, did not appear to underpin symptomatology in the sample and could not be considered a transdiagnostic marker. Future research should investigate the value of alternate metrics.

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12. Shakibaei F, Jelvani D. Effect of Adding l-Carnitine to Risperidone on Behavioral, Cognitive, Social, and Physical Symptoms in Children and Adolescents With Autism: A Randomized Double-Blinded Placebo-Controlled Clinical Trial. Clin Neuropharmacol;2023 (Feb 4)

OBJECTIVES: The present research aimed to evaluate the effect of adding l-carnitine to risperidone in treating children and adolescents with autism spectrum disorder (ASD). METHODS: In this randomized controlled clinical trial study, 50 ASD children and adolescents were divided into 2 groups: those receiving l-carnitine and risperidone (n = 25) and those receiving placebo and risperidone (n = 25). Treatment continued for 8 weeks, and participants were assessed at the beginning of the study, in the fourth and eighth weeks, by the Aberrant Behavior Checklist (ABC). RESULTS: l-Carnitine add-on therapy reduced the scores of total ABC and subscales of restlessness, lethargy and social isolation, stereotypic behavior, and inappropriate speech at weeks 4 and 8. There was a significant difference between the 2 groups in the score of total ABC and subscale of lethargy and social isolation. CONCLUSIONS: According to the present study, adding l-carnitine to risperidone improves ASD symptoms.

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13. Simó-Pinatella D, Alomar-Kurz E, Font-Roura J, Giné C, Matson JL, Cifre I. Retraction notice to « Questions About Behavioral Function (QABF): Adaptation and validation of the Spanish version » [Research in Developmental Disabilities 34/4 (2013) 1248-1255]. Res Dev Disabil;2023 (Feb 1):104446.

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14. Simó-Pinatella D, Font-Roura J, Alomar-Kurz E, Giné C, Matson JL. Functional variables of challenging behavior in individuals with intellectual disabilities [Research in Developmental Disabilities 35/11 (2014) 2635-2643]. Res Dev Disabil;2023 (Feb 1):104447.

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15. Turygin NC, Matson JL, Adams HL, Williams LW. Retraction notice to « Co-occurring disorder clusters in adults with mild and moderate intellectual disability in residential treatment settings » [Research in Developmental Disabilities 35/11 (2014) 3156-3161]. Res Dev Disabil;2023 (Feb 1):104428.

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