1. Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M. ZDHHC15 as a candidate gene for autism spectrum disorder. American journal of medical genetics Part A. 2022.

The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X-chromosome inactivation patterns. Medical history interviews, cognitive and physical examinations, and sensory profiling were also assessed. The three family members with ASD (with normal cognitive abilities and an abnormal sensory profile) were the only carriers of a 1.7 Mb deletion in the long arm of chromosome X, involving: ZDHHC15, MAGEE2, PBDC1, MAGEE1, MIR384 and MIR325. The normal chromosome X was preferentially inactivated in female carriers, and the whole exome sequencing of an affected family member did not reveal any additional genetic variant that could explain the phenotype. Thus, in the present family, ASD segregates with a deletion on chromosome X that includes ZDHHC15. Considering our results together with gene data (regarding function, expression, conservation and animal/cellular models), ZDHHC15 is a candidate gene for ASD. Emerging evidence also suggests that this gene could be associated with other neurodevelopmental disorders, with incomplete penetrance and variable expressivity.

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2. Castillo J, Thibadeau JK, Brei T, Castillo H. From autism to zoom®: Spina bifida advocacy, care, education, and research in a changing word. Journal of pediatric rehabilitation medicine. 2022.

Whereas legislation mandates for folic acid fortification have been implemented throughout many nations, divergent neural tube defects (NTDs) prevalence rates still remain among the world’s populations. In North America, the prevalence estimate is 39 infants per 100,000 live births. Open spina bifida (SB), also known as myelomeningocele, remains the most complex congenital abnormality of the central nervous system compatible with long term survival; this recognized complexity gives rise to emerging comorbidities and interventions. For example, increasing autism spectrum disorder rates have been reported among individuals with SB utilizing a 31,220 subject population-based birth cohort. Along with new clinical observations, telecommunication platforms such as Zoom ® have evolved as clinical and investigational tools. Historically, society meetings, research conferences, and journals have provided opportunities for professional development and dissemination of up-to-date materials. The Journal of Pediatric Rehabilitation Medicine (JPRM) has arisen as an open-access global platform for the dissemination of SB-related inquiry. The journal has also highlighted the research presented at the Spina Bifida Association’s previous Spina Bifida World Congresses. At the last congress, which was held in 2017, twenty-three countries were represented; this number is expected to grow by the next convocation in 2023. This congress will provide an opportunity for health care professionals from around the globe to present a broad array of research topics and build collaborations. Concurrently, the JPRM will continue as an open-access platform for SB advocacy, care, education, and investigation, across our fast changing world for the international SB community well into the future.

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3. Chan KKS, Fung WTW, Leung DCK. Self-compassion mitigates the cognitive, affective, and social impact of courtesy stigma on parents of autistic children. Social psychiatry and psychiatric epidemiology. 2022.

PURPOSE: Due to the courtesy stigma of autism spectrum disorder, many parents of autistic children are devaluated and discriminated against by the public. Despite the high prevalence of this courtesy stigma, very few studies have examined its negative effects on parents of autistic children and explored the factors that may protect the parents from these negative effects. The present study utilized a 2-year, two-wave prospective longitudinal design to examine the associations of courtesy stigma with adverse cognitive (self-stigma), affective (depressive and anxiety symptoms), and social (parent-child and inter-parental conflicts) consequences for parents of autistic children and to test whether these associations would be moderated and mitigated by self-compassion. METHODS: A total of 381 parents of autistic children completed questionnaires about courtesy stigma, self-compassion, self-stigma, depressive and anxiety symptoms, and parent-child and inter-parental conflicts at time 1 (T1) and time 2 (T2). RESULTS: Courtesy stigma interacted with self-compassion at T1 in predicting self-stigma, depressive and anxiety symptoms, and parent-child and inter-parental conflicts at T2. Specifically, the associations of courtesy stigma with the adverse psychological consequences were weaker for parents with high self-compassion than for those with low self-compassion. CONCLUSION: Our results demonstrate the prospective associations of courtesy stigma with adverse cognitive, affective, and social consequences for parents of autistic children, as well as the protective effects of self-compassion against such associations. These results highlight the importance of increasing parents’ self-compassion to help them cope with courtesy stigma and improve their psychological well-being.

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4. Farhoomand F, Delaney KR. Long-term cortical plasticity following sensory deprivation is reduced in male Rett model mice. Somatosensory & motor research. 2022: 1-8.

PURPOSE/AIM: Rett (RTT) syndrome, a neurodevelopmental disorder, results from loss-of-function mutations in methyl-CpG-binding protein 2. We studied activity-dependent plasticity induced by sensory deprivation via whisker trimming in early symptomatic male mutant mice to assess neural rewiring capability. METHODS: One whisker was trimmed for 0-14 days and intrinsic optical imaging of the transient reduction of brain blood oxygenation resulting from neural activation by 1 second of wiggling of the whisker stump was compared to that of an untrimmed control whisker. RESULTS: Cortical evoked responses to wiggling a non-trimmed whisker were constant for 14 days, reduced for a trimmed whisker by 49.0 ± 4.3% in wild type (n = 14) but by only 22.7 ± 4.6% in mutant (n = 18, p = 0.001). CONCLUSION: As the reduction in neural activation following sensory deprivation in whisker barrel cortex is known to be dependent upon evoked and basal neural activity, impairment of cortical re-wiring following whisker trimming provides a paradigm suitable to explore mechanisms underlying deficiencies in the establishment and maintenance of synapses in RTT, which can be potentially targeted by therapeutics.

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5. Harris HK, Sideridis GD, Barbaresi WJ, Harstad E. Male and Female Toddlers with DSM-5 Autism Spectrum Disorder have Similar Developmental Profiles and Core Autism Symptoms. Journal of autism and developmental disorders. 2022.

Compare developmental profiles and core ASD symptom manifestation between male and female toddlers with DSM-5 ASD. Retrospective record review of 500 toddlers (79% male) at time of ASD diagnosis. There were no differences in developmental functioning between males and females. When adjusting for multiple comparisons, sex differences were only noted for sensory seeking behavior occurring at a higher frequency in females. Overall, there were no significant differences in demographic characteristics, developmental functioning, or manifestation of core ASD symptoms between males versus female toddlers at the time of DSM-5 ASD diagnosis.

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6. Libster N, Knox A, Engin S, Geschwind D, Parish-Morris J, Kasari C. Personal victimization experiences of autistic and non-autistic children. Molecular autism. 2022; 13(1): 51.

BACKGROUND: Autistic children report higher levels of bullying victimization than their non-autistic peers. However, autistic children with fewer social difficulties, as measured on the Autism Diagnostic Observation Schedule (ADOS), are more likely to report being bullied. Autistic children with stronger social skills may not only be more likely to identify and report incidents of bullying, but they may also be more likely to interact with their non-autistic peers, increasing their likelihood of being victimized. Autistic girls may be especially at-risk of experiencing bullying victimization, as a growing body of research suggests that autistic girls demonstrate fewer social difficulties and are more socially motivated than autistic boys. Here, we explored reported problems with peers and bullying victimization among a carefully matched sample of autistic and non-autistic boys and girls. Qualitative methods were further implemented to gain a more holistic understanding of the social experiences of autistic boys and girls. METHODS: This mixed-methods study analyzed the transcribed clinical evaluations of 58 autistic children (29 girls) matched to 42 non-autistic children (21 girls) on age and IQ. Within each diagnostic group, boys and girls were matched on ADOS severity score. We compared reported problems with peers and bullying victimization across sex and diagnosis. Among autistic children, we further examined whether ADOS social affect (SA), restricted repetitive behaviors, and severity scores predicted problems with peers and bullying victimization. We then identified themes related to personal experiences of victimization. RESULTS: Autistic children were more likely than non-autistic children to have experienced bullying victimization, and autistic children with lower ADOS severity and SA scores were more likely to report having been bullied. While autistic boys and girls reported similar levels of bullying victimization, qualitative analyses revealed sex differences in the underlying causes of peer conflict. LIMITATIONS: This study was a secondary data analysis. The standardized set of questions on the ADOS limited the amount of information that children provided about their peer relationships, and variations in follow-up questions may have influenced children’s responses. CONCLUSIONS: Although autism symptomatology places autistic children at greater risk for bullying victimization compared to their non-autistic peers, greater social challenges among autistic children are associated with lower rates of victimization. This study further highlights the importance of using mixed-methods approaches to discover nuances in the social experiences of autistic girls and boys that may become opportunities for support.

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7. Pollak RM, Pincus JE, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG. Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome. Molecular autism. 2022; 13(1): 50.

BACKGROUND: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services.

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8. Unwin KL, Barbaro J, Uljarevic M, Hussain A, Chetcuti M, Lane AE. The Sensory Observation Autism Rating Scale (SOAR): Developed using the PROMIS® framework. Autism research : official journal of the International Society for Autism Research. 2022.

Autistic people experience the sensory world differently, impacting behavior. First-hand accounts and group-based research have found that sensory differences impact a range of things including family life, anxiety, participation, and daily living. Early sensory differences are widely reported to be associated with a cascade of developmental difference, suggesting that early autism diagnosis and sensory mapping could enable the provision of supports to facilitate flourishing. However, appropriate measurement tools are not available as all rely on proxy report or are observation measures which include limited modalities or domains and require the administration of stimuli. Therefore, following the gold-standard recommendations for measurement development outlined by the PROMIS® framework, we created the Sensory Observation Autism Rating scale (SOAR). We identified sensory behaviors across all primary domains and modalities through an extensive autism-sensory literature review and from focus groups with autism stakeholders. The initial item bank was then refined by an expert panel and through video coding five-minutes of free play from Autism Diagnostic Observation Schedule assessments of 105 age- and gender-matched autistic and developmentally delayed children (aged 13-36 months; 38 female). An additional 25% of the sample were double coded to investigate interrater reliability. Observational data and expert review supported the reduction of the item bank to 37 items. We propose that the refined SOAR has excellent face and ecological validity, along with interrater reliability (Intraclass correlation = 0.87-0.99). Following further data collection and refinement, SOAR has promise to fully characterize sensory behaviors in autistic children and indicate useful supports.

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