1. Badawi M, Mori T, Kurihara T, Yoshizawa T, Nohara K, Kouyama-Suzuki E, Yanagawa T, Shirai Y, Tabuchi K. Risperidone Mitigates Enhanced Excitatory Neuronal Function and Repetitive Behavior Caused by an ASD-Associated Mutation of SIK1. Frontiers in molecular neuroscience. 2021; 14: 706494.

Six mutations in the salt-inducible kinase 1 (SIK1)-coding gene have been identified in patients with early infantile epileptic encephalopathy (EIEE-30) accompanied by autistic symptoms. Two of the mutations are non-sense mutations that truncate the C-terminal region of SIK1. It has been shown that the C-terminal-truncated form of SIK1 protein affects the subcellular distribution of SIK1 protein, tempting to speculate the relevance to the pathophysiology of the disorders. We generated SIK1-mutant (SIK1-MT) mice recapitulating the C-terminal-truncated mutations using CRISPR/Cas9-mediated genome editing. SIK1-MT protein was distributed in the nucleus and cytoplasm, whereas the distribution of wild-type SIK1 was restricted to the nucleus. We found the disruption of excitatory and inhibitory (E/I) synaptic balance due to an increase in excitatory synaptic transmission and enhancement of neural excitability in the pyramidal neurons in layer 5 of the medial prefrontal cortex in SIK1-MT mice. We also found the increased repetitive behavior and social behavioral deficits in SIK1-MT mice. The risperidone administration attenuated the neural excitability and excitatory synaptic transmission, but the disrupted E/I synaptic balance was unchanged, because it also reduced the inhibitory synaptic transmission. Risperidone also eliminated the repetitive behavior but not social behavioral deficits. These results indicate that risperidone has a role in decreasing neuronal excitability and excitatory synapses, ameliorating repetitive behavior in the SIK1-truncated mice.

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2. Barbeau EB, Klein D, Soulières I, Petrides M, Bernhardt B, Mottron L. Age of Speech Onset in Autism Relates to Structural Connectivity in the Language Network. Cerebral cortex communications. 2020; 1(1): tgaa077.

Speech onset delays (SOD) and language atypicalities are central aspects of the autism spectrum (AS), despite not being included in the categorical diagnosis of AS. Previous studies separating participants according to speech onset history have shown distinct patterns of brain organization and activation in perceptual tasks. One major white matter tract, the arcuate fasciculus (AF), connects the posterior temporal and left frontal language regions. Here, we used anatomical brain imaging to investigate the properties of the AF in adolescent and adult autistic individuals with typical levels of intelligence who differed by age of speech onset. The left AF of the AS group showed a significantly smaller volume than that of the nonautistic group. Such a reduction in volume was only present in the younger group. This result was driven by the autistic group without SOD (SOD-), despite their typical age of speech onset. The autistic group with SOD (SOD+) showed a more typical AF as adults relative to matched controls. This suggests that, along with multiple studies in AS-SOD+ individuals, atypical brain reorganization is observable in the 2 major AS subgroups and that such reorganization applies mostly to the language regions in SOD- and perceptual regions in SOD+ individuals.

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3. Bisgaard AM, Wong K, Højfeldt AK, Larsen JL, Schönewolf-Greulich B, Rønde G, Downs J, Stahlhut M. Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study. American journal of medical genetics Part A. 2021; 185(12): 3683-93.

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. We did a longitudinal study to address if a possible decline in motor skills in adults with RTT can be explained by the presence of common medical conditions as epilepsy, breathing disturbance, and scoliosis. Data from the Danish RTT database, medical files, and videos from visits at the national Center for Rett syndrome were reviewed. The study included 24 individuals aged 30-66 years at last visit after a follow-up period of 6-12 years. Results showed a clinically observable and significant decline in gross motor skills using the Rett syndrome Gross Motor Scale (RSGMS) with a tendency of less decline in the individuals with the best motor abilities. The frequencies of comorbidities were high. Decline in RSGMS score was associated with the presence of epilepsy and severe scoliosis that had been conservatively managed. The results emphasize that epilepsy plays a significant role in the adult RTT life and management of severe scoliosis in the younger years has impact on the motor abilities in adulthood.

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4. Bobbette N, Lysaght R, Ouellette-Kuntz H, Tranmer J, Donnelly C. Organizational attributes of interprofessional primary care for adults with intellectual and developmental disabilities in ontario, Canada: a multiple case study. BMC family practice. 2021; 22(1): 157.

BACKGROUND: Access to high-quality primary care has been identified as a pressing need for adults with intellectual and developmental disabilities (IDD). Adults with IDD live with complex physical and mental health conditions, use health services differently than the general population and continue to face challenges when accessing health services. Interprofessional primary care teams offer comprehensive and coordinated approaches to primary care delivery and are well-positioned to address the needs of adults with IDD and other vulnerable populations. Although interprofessional primary care teams are recommended, there is currently limited understanding of how interprofessional care is delivered and how access to a team of providers improves the health of this population. The aim of this paper is to describe the organizational attributes of interprofessional primary care for adults with IDD within and across models of team-based care in one local health service context. METHODS: A multiple case study was conducted with five interprofessional primary care teams in Ontario, Canada. Multiple methods were used to generate data including: a survey, document review, electronic medical record report and qualitative interviews. Pattern matching was the primary analytic approach for the within and across case analysis. RESULTS: Adults with IDD were found to be a small part of the patient population served and this group was poorly identified in three of five teams. Key organizational attributes that support the delivery of interprofessional primary care for adults with IDD were identified. Two examples of targeted programs of care for this group were also found. Despite the presence of interprofessional health providers in all teams, there were limited organizational processes to engage a wide-range of interprofessional services in the care of this group. There was no consistent reporting of outcomes or processes in place to measure the impact of interprofessional services for this population. CONCLUSIONS: This study provides important insights into the current state of interprofessional primary care for adults with IDD in Ontario and highlight a critical need for further work in the field to develop organizational structures and processes to engage in team-based care and demonstrate the value of the approach for this population.

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5. Cohen S, Koegel R, Koegel LK, Engstrom E, Young K, Quach A. Using Self-Management and Visual Cues to Improve Responses to Nonverbal Social Cues in Adults With Autism Spectrum Disorder. Behavior modification. 2022; 46(3): 529-52.

Many individuals with Autism Spectrum Disorder (ASD) experience challenges with social communication, including recognizing and responding to non-verbal cues. The purpose of this study was to assess the efficacy of self-management combined with textual cues to teach adults with ASD to recognize and respond to nonverbal expressions of boredom and confusion during social conversation. A multiple baseline across participants design was used to assess the efficacy of this intervention for three participants. Results showed substantial gains across all participants in their recognition and responsiveness to the targeted nonverbal cues. Moreover, this skill maintained after the completion of intervention and generalized to novel conversation partners and settings with large effect sizes. The findings add to the literature base on interventions for adults with ASD, and further support the use of self-management and textual cues as effective intervention strategies for improving nonverbal communication.

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6. Greene RK, Vasile I, Bradbury KR, Olsen A, Duvall SW. Autism Diagnostic Observation Schedule (ADOS-2) elevations in a clinical sample of children and adolescents who do not have autism: Phenotypic profiles of false positives. The Clinical neuropsychologist. 2021: 1-17.

OBJECTIVE: While the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) shows high sensitivity for detecting autism spectrum disorder (ASD) when present (i.e. true positives), scores on the ADOS-2 may be falsely elevated for individuals with cognitive impairments or psychological concerns other than ASD (i.e. false positives). This study examined whether demographic, psychological, cognitive, and/or adaptive factors predict ADOS-2 false positives and which psychiatric diagnoses most often result in false positives. METHOD: Sensitivity, specificity, false positive, and false negative rates were calculated among 214 5- to 16-year-old patients who completed an ADOS-2 (module 3) as part of an ASD diagnostic evaluation. Additional analyses were conducted with the 101 patients who received clinically elevated ADOS-2 scores (i.e. 56 true positives and 45 false positives). RESULTS: Results revealed a 34% false positive rate and a 1% false negative rate. False positives were slightly more likely to be male, have lower restricted and repetitive behavior (RRB) severity scores on the ADOS-2, and demonstrate elevated anxiety during the ADOS-2. Neither IQ, adaptive functioning, nor caregiver-reported emotional functioning was predictive of false positive status. Trauma-related psychiatric diagnoses were more common among false positives. CONCLUSIONS: The ADOS-2 should not be used in isolation to assess for ASD, and, in psychiatrically-complex cases, RRB symptom severity may be particularly helpful in differentiating ASD from other psychiatric conditions. Additionally, heightened levels of anxiety, more so than overactivity or disruptive behavior, may lead to non-ASD specific elevations in ADOS-2 scores.

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7. Jose P, Sundaram S, Varma RP. Buffering Effect of Spousal Support on Stress Levels in Mothers of Children with a Diagnosis of Autism Spectrum Disorder in Kerala, India. Journal of neurosciences in rural practice. 2021; 12(3): 535-42.

Objectives  Bringing up a child with the diagnosis of autism spectrum disorder (ASD) can be highly stressful. This study aimed to assess perceived stress, level of spousal support, emotion-focused coping styles, and other potentially associated factors among mothers accompanying children diagnosed with ASD for care from selected institutions in Kerala, India. Materials and Methods  Consenting parents accompanying children to therapeutic programs in selected institutions were administered a semi structured interview schedule incorporating questions of the vernacular version of the Perceived Stress Scale (PSS-10), emotion-based coping strategies, spousal support in care of the child diagnosed with ASD, and possible-associated factors. Since internal consistency of stress and coping questionnaires were low, principal component analysis was used to extract composite variables with reasonable psychometric characteristics for stress and coping. Statistical Analysis  Ordinal logistic regression was performed with a three-level stress category as the outcome variable. Results  High stress was significantly associated with low spousal support (adjusted odds ratio or AOR: 2.80; 95% confidence intervals or CI 1.28-6.11), having a completely dependent child (AOR 4.24 [95% CI 1.92-9.38]), and low acceptance levels (AOR 2.60 [95% CI 1.14-5.89]). Unlike mothers with high spousal support, mothers with low spousal support were likely to have difficulty in interacting with others ( p = 0.02) and a low level of acceptance ( p = 0.05). Conclusion  Spousal support is important to preserve psychological health in mothers of children diagnosed with ASD. Mothers with low spousal support may need interventions that help increase acceptance levels or decrease avoidant behavior.

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8. Levy HC, Stevens KT, Tolin DF. Research Review: A meta-analysis of relapse rates in cognitive behavioral therapy for anxiety and related disorders in youth. Journal of child psychology and psychiatry, and allied disciplines. 2022; 63(3): 252-60.

BACKGROUND: Cognitive behavioral therapy (CBT) is an effective treatment for youth with anxiety and related disorders, with a 59% remission rate at post-treatment. Results of reviews and meta-analyses indicate that treatment gains are maintained across long-term follow-up, at least in terms of symptom improvement. Less is known about relapse, defined as patients who initially achieve remission status but then experience a return of symptoms after a follow-up period. METHOD: The current study used meta-analysis to determine the overall rate of relapse in CBT for children and adolescents (age 18 years or younger) with anxiety and related disorders. Potential moderating factors of relapse rates, including demographic, methodological, and clinical/intervention characteristics, were also examined. Out of a pool of 78 abstracts, 13 full-text articles were retained for meta-analysis. An additional two articles were identified from other sources (total N = 535 patients). RESULTS: Results showed an overall relapse rate of 10.5% (including comorbid autism spectrum disorder) and 8% (excluding comorbid autism spectrum disorder) across studies. Moderator analyses demonstrated that relapse rates were higher among younger and more racially diverse samples, as well as among patients with comorbid externalizing disorders and those taking psychiatric medications. There were no differences in relapse rates as a function of primary diagnosis. CONCLUSIONS: Taken together, the findings indicate that relapse rates in CBT for anxious youth are relatively low, suggesting that treatment development and refinement efforts should focus on improving treatment response and remission rates for this population.

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9. Marlborough M, Welham A, Jones C, Reckless S, Moss J. Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence. Journal of neurodevelopmental disorders. 2021; 13(1): 28.

BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS. RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

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10. Mohammadzaheri F, Koegel LK, Bakhshi E, Khosrowabadi R, Soleymani Z. The Effect of Teaching Initiations on the Communication of Children with Autism Spectrum Disorder: A Randomized Clinical Trial. Journal of autism and developmental disorders. 2021.

This study examined the effect of Pivotal response treatment (PRT) to improve verbal initiations in children with Autism Spectrum Disorder, age 6-12 years old, using a Randomized Clinical Trial design. Intervention was conducted three times a week for 2 months, for a total of 24 one-hour sessions. The PRT intervention taught a variety of questions and attention/assistance-seeking initiations. The treatment as usual (TAU) group received standard language intervention. Results showed that the PRT group made significant improvements in their number of verbal initiations as well as collateral gains in general communicative skills and mean length of utterance (MLU) compared to the TAU group. Theoretical implications of including motivational approaches to develop social initiations are reviewed.

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11. Ortega F, Müller MR. Negotiating human rights narratives in Global Mental Health: Autism and ADHD controversies in Brazil. Global public health. 2021: 1-15.

Promoting evidence-based treatments and the human rights of people living with mental illness are the two pillars of Global Mental Health (GMH). Critics counter that human rights narratives must also include social justice frameworks. We draw on the cases of autism and ADHD in Brazil to discuss the role of human rights in mental health in the context of GMH. A human rights perspective involves citizenship rights for individuals living with mental distress and provides a framework to problematise the logic of GMH centred on individual rights and rights to treatment. We begin with an overview on human rights discussions in GMH and examine the introduction of human rights discourses in the Brazilian psychiatric reform. We then explore how autism and ADHD became priorities of GMH interventions as well as the constitution of two styles of activism and mobilisation of human rights around these conditions. One follows the universal public health logic and promotes health as a social right. The other follows the logic of parents’ associations that redefined those conditions as forms of disability to advocate for specialised services and interventions. Finally, we discuss these forms of human rights mobilisation and their implications for Brazilian mental health and GMH.

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12. Packheiser J, Schmitz J, Stein CC, Pfeifer LS, Berretz G, Papadatou-Pastou M, Peterburs J, Ocklenburg S. Handedness and depression: A meta-analysis across 87 studies. Journal of affective disorders. 2021; 294: 200-9.

Alterations in functional brain lateralization, often indicated by an increased prevalence of left- and/or mixed-handedness, have been demonstrated in several psychiatric and neurodevelopmental disorders like schizophrenia or autism spectrum disorder. For depression, however, this relationship is largely unclear. While a few studies found evidence that handedness and depression are associated, both the effect size and the direction of this association remain elusive. Here, we collected data from 87 studies totaling 35,501 individuals to provide a precise estimate of differences in left-, mixed- and non-right-handedness between depressed and healthy samples and computed odds ratios (ORs) between these groups. Here, an OR > 1 signifies higher rates of atypical handedness in depressed compared to healthy samples. We found no differences in left- (OR = 1.04, 95% CI = [0.95, 1.15], p = .384), mixed- (OR = 1.64, 95% CI = [0.98, 2.74], p = .060) or non-right-handedness (OR = 1.05, 95% CI = [0.96, 1.15], p = .309) between the two groups. We could thus find no link between handedness and depression on the meta-analytical level.

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13. Pu Y, Ma L, Shan J, Wan X, Hammock BD, Hashimoto K. Autism-like Behaviors in Male Juvenile Offspring after Maternal Glyphosate Exposure. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2021; 19(3): 554-8.

OBJECTIVE: Exposure to the herbicide glyphosate during pregnancy and lactation may increase the risk for autism spectrum disorder (ASD) in offspring. Recently, we reported that maternal exposure of formulated glyphosate caused ASD-like behaviors in juvenile offspring. Here, we investigated whether maternal exposure of pure glyphosate could cause ASD-like behaviors in juvenile offspring. METHODS: Water or 0.098% glyphosate was administered as drinking water from E5 to P21 (weaning). Behavioral tests such as grooming test and three-chamber social interaction test in male offspring were performed from P28 to P35. RESULTS: Male offspring showed ASD-like behavioral abnormalities (i.e., increasing grooming behavior and social interaction deficit) after maternal exposure of glyphosate. CONCLUSION: The findings suggest that the exposure of glyphosate during pregnancy and lactation may cause ASD-like behavioral abnormalities in male juvenile offspring. It is likely that glyphosate itself, but not the other ingredients, may contribute to ASD-like behavioral abnormalities in juvenile offspring.

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14. Raptopoulou A, Komnidis A, Bamidis PD, Astaras A. Human-robot interaction for social skill development in children with ASD: A literature review. Healthcare technology letters. 2021; 8(4): 90-6.

Human-robot interaction has been demonstrated to be a promising methodology for developing socio-communicational skills of children and adolescents with autism spectrum disorder (ASD). This paper systematically reviews studies that report experimental results on this topic published in scientific journals between the years 2010 and2018. A total of 1805 articles from various literature were filtered based on relevance and transparency. In the first set of criteria, article titles are screened and in the second both titles and abstracts. The final number of articles which were subsequently thoroughly reviewed was 32 (N = 32). The findings suggest that there are benefits in using human-robot interaction to assist with the development of social skills for children with ASD. Specifically, it was found that the majority of studies used humanoid robots, 64% relied on a small number of participants and sessions, while few of the studies included a control group or follow-up sessions. Based on these findings, this paper tried to identify areas that have not been extensively addressed to propose several directions for future improvements for studies in this field, such as control groups with typical developmental children, minimum number of sessions and participants, as well as standardization of criteria for assessing the level of functionality for ASD children.

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15. Shalvey A. Commentary: The diagnostic label of Asperger’s in historical perspective – a commentary on Kehinde et al. (2021). Child and adolescent mental health. 2021; 26(3): 286-7.

Eponyms and diagnoses that originate from the era of National Socialism have been re-evaluated as a result of historical research which reveal the unethical research and treatment behind the diagnosis. This article presents the case of Asperger’s as a distinct diagnostic category and reflects on historical research which has provided further nuance behind the origins of this diagnosis.

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16. Su WC, Culotta M, Tsuzuki D, Bhat A. Movement kinematics and cortical activation in children with and without autism spectrum disorder during sway synchrony tasks: an fNIRS study. Scientific reports. 2021; 11(1): 15035.

Children with Autism Spectrum Disorder (ASD) have difficulties with socially embedded movements such as imitation and interpersonal synchrony (IPS); however, related movement characteristics and underlying neural mechanisms are not well understood. This study compared the movement characteristics and cortical activation patterns of children with and without ASD during a whole-body, sway synchrony task when different levels of social information were provided. Thirty children with and without ASD (mean age: 12.6 years, SE: 0.6 years) participated. Movement kinematics and fNIRS-based cortical activation were recorded when the child observed an adult tester sway side to side, when they swayed solo, or when they swayed face to face with the tester with or without fingertips touching (i.e., IPS). Children with ASD showed reduced synchrony and smaller sway amplitude compared to typically developing children without ASD. They showed reduced cortical activation over the inferior frontal gyrus and superior temporal sulcus during IPS and did not show significant increase in cortical activation when more social information was provided. The cortical activation findings were significantly associated with IPS behaviors and social communication performance. The ASD-related neurobiomarkers identified in our study could be used as objective measures to evaluate intervention effects in children with ASD.

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17. Sumioka H, Kumazaki H, Muramatsu T, Yoshikawa Y, Ishiguro H, Higashida H, Yuhi T, Mimura M. A huggable device can reduce the stress of calling an unfamiliar person on the phone for individuals with ASD. PloS one. 2021; 16(7): e0254675.

Individuals with autism spectrum disorders (ASD) are often not comfortable during mobile-phone conversations with unfamiliar people. « Hugvie » is a pillow with a human-like shape that has been designed to provide users with the tactile sensation of hugging another person during phone conversations to promote feelings of comfort and trust in the speaker toward their conversation partners. Our primary aim was to examine whether physical contact by hugging a Hugvie could reduce the stress of speaking with an unfamiliar person on the phone in individuals with ASD. We enrolled 24 individuals and requested them to carry out phone conversations either using only a mobile phone or using a mobile phone along with the Hugvie. All participants in both groups completed questionnaires designed to evaluate their self-confidence while talking on the phone, and also provided salivary cortisol samples four times each day. Our analysis revealed that the medium of communication was a significant factor, indicating that individuals with ASD who spoke with an unfamiliar person on the phone while hugging a Hugvie had stronger self-confidence and lower stress levels than those who did not use Hugvie. Hence, we recommend that huggable devices be used as adjunctive tools to support individuals with ASD during telephonic conversations with unfamiliar people.

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