1. Higgins L, Mannion A, Chen JL, Leader G. Adaptation of Parents Raising a Child with ASD: The Role of Positive Perceptions, Coping, Self-efficacy, and Social Support. Journal of autism and developmental disorders. 2022.

This study explored the adaptation of parents raising a child with an Autism Spectrum Disorder (ASD) specifically the contributory role of positive perceptions, coping, self-efficacy, and social support. One hundred and thirty-six parents of children with a diagnosis of ASD completed a battery of self-report questionnaires via an online survey. Using multiple regression analyses positive perceptions, adaptive coping, self-efficacy, and social support were each a significant contributor to one or more positive adaptation outcomes. Multiple moderated regression analysis found no evidence that these factors were significant moderators between behavioural problems and parental adaptation. The implications of these findings in supporting parents raising a child with ASD are outlined.

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2. Icht M, Zukerman G, Ben-Itzchak E, Ben-David BM. Response to McKenzie et al. 2021: Keep It Simple; Young Adults With Autism Spectrum Disorder Without Intellectual Disability Can Process Basic Emotions. Journal of autism and developmental disorders. 2022: 1-4.

We recently read the interesting and informative paper entitled « Empathic accuracy and cognitive and affective empathy in young adults with and without autism spectrum disorder » (McKenzie et al. in Journal of Autism and Developmental Disorders 52: 1-15, 2021). This paper expands recent findings from our lab (Ben-David in Journal of Autism and Developmental Disorders 50: 741-756, 2020a; International Journal of Audiology 60: 319-321, 2020b) and a recent theoretical framework (Icht et al. in Autism Research 14: 1948-1964, 2021) that may suggest a new purview for McKenzie et al.’s results. Namely, these papers suggest that young adults with autism spectrum disorder without intellectual disability can successfully recruit their cognitive abilities to distinguish between different simple spoken emotions, but may still face difficulties processing complex, subtle emotions. McKenzie et al. (Journal of Autism and Developmental Disorders 52: 1-15, 2021) extended these findings to the processing of emotions in video clips, with both visual and auditory information.

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3. Lindenmaier Z, Ellegood J, Stuive M, Easson K, Yee Y, Fernandes D, Foster J, Anagnostou E, Lerch JP. Examining the effect of chronic intranasal oxytocin administration on the neuroanatomy and behavior of three autism-related mouse models. NeuroImage. 2022: 119243.

Although initially showing great potential, oxytocin treatment has encountered a translational hurdle in its promise of treating the social deficits of autism. Some debate surrounds the ability of oxytocin to successfully enter the brain, and therefore modify neuroanatomy. Moreover, given the heterogeneous nature of autism, treatment will only amerliorate symptoms in a subset of patients. Therefore, to determine whether oxytocin changes brain circuitry, and whether it does so variably, depending on genotype, we implemented a large randomized, blinded, placebo-controlled, preclinical study on chronic intranasal oxytocin treatment in three different mouse models related to autism with a focus on using neuroanatomical phenotypes to assess and subset treatment response. Intranasal oxytocin (0.6IU) was administered daily, for 28 days, starting at 5 weeks of age to the 16p11.2 deletion, Shank3 (exon 4-9) knockout, and Fmr1 knockout mouse models. Given the sensitivity of structural magnetic resonance imaging (MRI) to the neurological effects of interventions like drugs, along with many other advantages, the mice underwent in vivo longitudinal and high-resolution ex vivo imaging with MRI. The scans included three in vivo T1weighted, 90um isotropic resolution scans and a T2-weighted, 3D fast spin echo with 40um isotropic resolution ex vivo scan to assess the changes in neuroanatomy using established automated image registration and deformation based morphometry approaches in response to oxytocin treatment. The behavior of the mice was assessed in multiple domains, including social behaviours and repetitive behaviours, among others. Treatment effect on the neuroanatomy did not reach significance, although the pattern of trending effects was promising. No significant effect of treatment was found on social behavior in any of the strains, although a significant effect of treatment was found in the Fmr1 mouse, with treatment normalizing a grooming deficit. No other treatment effect on behavior was observed that survived multiple comparisons correction. Overall, chronic treatment with oxytocin had limited effects on the three mouse models related to autism, and no promising pattern of response susceptibility emerged.

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4. López-Espejo MA, Núñez AC, Moscoso OC, Escobar RG. [Motor disturbances in children with autism spectrum disorder]. Andes pediatrica : revista Chilena de pediatria. 2022; 93(1): 37-42.

OBJECTIVE: To describe main motor disorders detected in children with autism spectrum disorder (ASD) and analyze associated clinical variables. PATIENTS AND METHOD: A cross-sectional observatio nal study of 96 children with ASD, median age 4 years (range, 3-9), 32.3% girls, and 18.8% preterm. Children were evaluated at the UC-CHRISTUS Clinical Hospital Neurodevelopmental Unit for three years. We analyzed the relationship between motor signs (stereotypies, delayed gait, and hypo/hyper tonia) and spoken language at 4 years of age. RESULTS: 63.5% of children presented a motor disorder, 33.3% had hand or body motor stereotypies at the time of the evaluation, and 28.1% had delayed gait (> 16 months of corrected gestational age). These children had a higher frequency of absence of spoken language at four years of age (OR = 9.36; 95% CI = 2.67-32.78) than patients without delayed gait. 40.6% of children presented alterations in muscle tone during the first two years of life (32.3% generalized hypotonia and 8.3% generalized hypertonia). A history of generalized hypotonia increases the chance of presenting delayed gait (OR = 2.65; 95% CI = 1.08-6.48) and motor stereo typies (OR = 2.63; 95% CI = 1.04-6.65). CONCLUSIONS: Children with ASD usually develop motor disorders that may precede the diagnosis of the condition. In ASD, infant hypotonia may predict the occurrence of other motor disorders, and delayed gait was associated with spoken language absence in preschool age.

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5. Milne-Ives M, Shankar R, Goodley D, Lamb K, Laugharne R, Harding T, Meinert E. Humanizing Health and Social Care Support for People With Intellectual and Developmental Disabilities: Protocol for a Scoping Review. JMIR research protocols. 2022; 11(5): e31720.

BACKGROUND: Health care is shifting toward a more person-centered model; however, people with intellectual and developmental disabilities can still experience difficulties in accessing equitable health care. Given these difficulties, it is important to consider how humanizing principles, such as empathy and respect, can be best incorporated into health and social care practices for people with intellectual and developmental disabilities to ensure that they are receiving equitable treatment and support. OBJECTIVE: The purpose of our scoping review is to provide an overview of the current research landscape and knowledge gaps regarding the development and implementation of interventions based on humanizing principles that aim to improve health and social care practices for people with intellectual and developmental disabilities. METHODS: The PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) and PICOS (Population, Intervention, Comparator, Outcome, and Study) frameworks will be used to structure the review. A total of 6 databases (PubMed, MEDLINE, Embase, CINAHL, PsycINFO, and Web of Science) will be searched for English articles published in the previous 10 years that describe or evaluate health and social care practice interventions underpinned by the humanizing principles of empathy, compassion, dignity, and respect. Two reviewers will screen and select references based on the eligibility criteria and extract the data into a predetermined form. A descriptive analysis will be conducted to summarize the results and provide an overview of interventions in the following three main care areas: health care, social care, and informal social support. RESULTS: The results will be included in the scoping review, which is expected to begin in October 2022 and be completed and submitted for publication by January 2023. CONCLUSIONS: Our scoping review will summarize the state of the field of interventions that are using humanizing principles to improve health and social care for adults with intellectual and developmental disabilities. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/31720.

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6. Petroni V, Subashi E, Premoli M, Wöhr M, Crusio WE, Lemaire V, Pietropaolo S. Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene-environment interactions. Scientific reports. 2022; 12(1): 7269.

Fragile X Syndrome (FXS) is the most common heritable form of mental retardation and monogenic cause of autism spectrum disorder (ASD). FXS is due to a mutation in the X-linked FMR1 gene and is characterized by motor, cognitive and social alterations, mostly overlapping with ASD behavioral phenotypes. The severity of these symptoms and their timing may be exacerbated and/or advanced by environmental adversity interacting with the genetic mutation. We therefore tested the effects of the prenatal exposure to unpredictable chronic stress on the behavioral phenotype of juveniles of both sexes in the Fmr1 knock-out (KO) mouse model of FXS. Mice underwent behavioral tests at 7-8 weeks of age, that is, when most of the relevant behavioral alterations are absent or mild in Fmr1-KOs. Stress induced the early appearance of deficits in spontaneous alternation in KO male mice, without exacerbating the behavioral phenotype of mutant females. In males stress also altered social interaction and communication, but mostly in WT mice, while in females it induced effects on locomotion and communication in mice of both genotypes. Our data therefore highlight the sex-dependent relevance of early environmental stressors to interact with genetic factors to influence the appearance of selected FXS- and ASD-like phenotypes.

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7. Santander P, Pedemonte MJ, Troncoso M, Yáñez C, Cárdenas MA, Guajardo K, Silva C, Neves M, López C, Lagos P, Barrios A, Troncoso L. [Children and adolescents with intellectual disabilities studied with genetic tests according to their clinical phenotype]. Andes pediatrica : revista Chilena de pediatria. 2021; 92(6): 879-87.

INTRODUCTION: Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes. OBJECTIVE: to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS AND METHOD: Descriptive study of a series of patients with ID aged 6 to 18 years. Clinical records, cognitive assessment results (Wechsler -TADI), and genetic study performed were reviewed. They were classified according to phenotypic characteristics into Group 1 patients without a specific phenotype, Group 2: patients with Angel- man- and Rett-like neurodevelopmental disorders phenotype, and Group 3: patients with difficult- to-control seizures. Group 1 was studied with CMA and Groups 2 and 3 with specific genetic panels. RESULTS: 18 patients were described, average age 11 years, male predominance, non-consanguineous parents, and with history of psychomotor retardation. Common comorbidities were epilepsy, autism spectrum disorder (ASD), and behavioral difficulties. Most had a neurological examination without focus and had TADI with very poor developmental ages. In Group 1, there was one patient with a 16p11.2 microdeletion and in Group 3 a duplication of the IQSEC2 gene was found in a patient with difficult-to-control seizures. CONCLUSIONS: The phenotypic characteristics allow to guide the choice of specific genetic studies in children and adolescents with ID of previously undetermined etiology to approach the etiological diagnosis.

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8. Shayestehfar M, Nakhostin-Ansari A, Memari A, Hosseini Asl SH, Faghihi F. Risk of autism spectrum disorder in offspring with parental schizophrenia: a systematic review and meta-analysis. Nordic journal of psychiatry. 2022: 1-10.

BACKGROUND: The effect of parental schizophrenia on the risk of Autism Spectrum Disorders (ASD) in offspring has been evaluated in previous studies. However, to our knowledge, no systematic review and meta-analysis have assessed this association. In this study, we aimed to evaluate the risk of ASD in offspring with parental schizophrenia. METHODS: The electronic databases EMBASE, PubMed, and Scopus were systematically searched. We administered the Newcastle Ottawa quality assessment scale (NOS) to assess the quality of all selected studies. Combined effect values, as well as their 95% confidence intervals (CI), were calculated. We evaluated heterogeneity using Q and I(2) statistics. The publication bias was evaluated by funnel plot and Egger’s regression test. In addition, a leave-one-out sensitivity analysis was performed to assess the robustness of the finding. RESULTS: A total of 12 observational studies (10 cohorts and two case-control) were included. Our study found a high risk of ASD in offspring exposed to parental schizophrenia [RR = 2.38 (CI%95 2.0-2.83)]. Subgroup and sensitivity analysis confirmed the robustness of our main analysis. CONCLUSION: The risk of ASD is considerably higher in offspring with parental schizophrenia. Our findings may suggest a shared pathologic pathway between schizophrenia and ASD.

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9. Stratton E, Glozier N, Woolard A, Gibbs V, Demetriou EA, Boulton KA, Hickie I, Pellicano E, Guastella AJ. Understanding the vocational functioning of autistic employees: the role of disability and mental health. Disability and rehabilitation. 2022: 1-9.

PURPOSE: Employment rates for autistic people are low, despite increasing employment-focused programmes. Given the reported complexities for autistic people in finding and keeping work and flourishing there, further exploration is needed to understand how best to help employers accommodate autistic employees. MATERIAL AND METHODS: We assessed 88 employed autistic adults, without comorbid intellectual disability and examined whether self-reported disability and mental health symptoms were associated with two measures of vocational functioning: disability days off work and vocational disability. RESULTS: Nearly half (47%) reported at least one disability day absence in the previous month. Autism severity and IQ were not associated with either measure of vocational functioning. Greater disability and higher mental health symptoms were associated with both types of vocational functioning. However, the associations of anxiety and stress with both vocational outcomes were attenuated to null in a multivariable model. Disability (B = 6.74, p = 0.009; B = 1.18, p < 0.001) and depression (B = 4.46, p = 0.035; B = 1.01, p = 0.049) remained independently associated with both outcomes. CONCLUSIONS: Clinicians and vocational support programmes addressing modifiable factors may need to focus on addressing mental health comorbidities, specifically depression rather than anxiety, or core features of autism to improve vocational outcomes for autistic people. Implications for RehabilitationIndividual-level interventions that reduce disablement, particularly in social areas, and depressive symptoms as a way of reducing days off work and improving workplace activities in autistic employees are recommended.Organisations can accommodate autistic employees by encouraging use of mental health programmes or looking at how the workplace environment can be adapted to limit social disability.

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10. Valdés RF, Pacheco PB, Bedregal GP. [Cooccurrence of autism spectrum disorder and gender dysphoria in childhood: Analy sis of the personal identity from a psychodynamic perspective]. Andes pediatrica : revista Chilena de pediatria. 2022; 93(1): 99-104.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with alterations in social inte raction and communication, and restricted and repetitive patterns of behavior and interests. Gender Dysphoria (GD) refers to the incongruence between the gender identity and the sex assigned at birth, together with a strong and persistent desire to be of the opposite sex. During global personal identity construction, the development of sexual identity is essential. OBJECTIVE: To analyze an adolescent clinical case of co-occurrence of ASD and GD from a psychodynamic understanding of his identity. CLINICAL CASE: A 15-year-old male diagnosed with ASD and borderline intellectual capacity. He mani fested feminine behaviors and interests in girlish games since preschool age, imitating female figures, and verbalizing the desire to be of the opposite sex. A multidisciplinary evaluation of the patient concluded that he presented a diffuse general identity with ambivalent gender identity. Therefore, he did not fulfill the requirements for hormone therapy. Psychological therapy was suggested to favor grea ter exploration and cognitive flexibility to develop a better-defined gender identity. CONCLUSIONS: In cases as ASD, where identity development is compromised, the affected subject often delays or does not consolidate sexual identity, leading to a diffusion of identity and gender, as in the reported case. The co-occurrence of ASD and GD requires a multidisciplinary evaluation that includes a complete assessment of the patient’s global identity before considering any definitive therapeutic orientation regarding gender.

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11. Fields MC, Marsh C, Eka O, Johnson EA, Marcuse LV, Kwon CS, Young JJ, LaVega-Talbott M, Kurukumbi M, Von Allmen G, Zempel J, Friedman D, Jette N, Singh A, Yoo JY, Blank L, Panov F, Ghatan S. Responsive Neurostimulation for People With Drug-Resistant Epilepsy and Autism Spectrum Disorder. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 2022.

PURPOSE: Individuals with autism spectrum disorder (ASD) have comorbid epilepsy at much higher rates than the general population, and about 30% will be refractory to medication. Patients with drug-resistant epilepsy (DRE) should be referred for surgical evaluation, yet many with ASD and DRE are not resective surgical candidates. The aim of this study was to examine the response of this population to the responsive neurostimulator (RNS) System. METHODS: This multicenter study evaluated patients with ASD and DRE who underwent RNS System placement. Patients were included if they had the RNS System placed for 1 year or more. Seizure reduction and behavioral outcomes were reported. Descriptive statistics were used for analysis. RESULTS: Nineteen patients with ASD and DRE had the RNS System placed at 5 centers. Patients were between the ages of 11 and 29 (median 20) years. Fourteen patients were male, whereas five were female. The device was implanted from 1 to 5 years. Sixty-three percent of all patients experienced a >50% seizure reduction, with 21% of those patients being classified as super responders (seizure reduction >90%). For the super responders, two of the four patients had the device implanted for >2 years. The response rate was 70% for those in whom the device was implanted for >2 years. Improvements in behaviors as measured by the Clinical Global Impression Scale-Improvement scale were noted in 79%. No complications from the surgery were reported. CONCLUSIONS: Based on the authors’ experience in this small cohort of patients, the RNS System seems to be a promising surgical option in people with ASD-DRE.

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