1. Chowdhury MAK, Hardin JW, Love BL, Merchant AT, McDermott S. Relationship of Nonsteroidal Anti-Inflammatory Drug Use During Pregnancy with Autism Spectrum Disorder and Intellectual Disability Among Offspring. Journal of women’s health (2002). 2022.

Objective: This study aimed to examine the association of nonsteroidal anti-inflammatory drug (NSAID) use by pregnant women during pregnancy with autism spectrum disorder (ASD) and intellectual disability (ID) in their children among Medicaid-insured mother-child dyads. Materials and Methods: We conducted a retrospective cohort study linking multiple datasets of South Carolina for the years between 2010 and 2017, in which the main exposure variable was NSAID use during pregnancy and outcome variables were ASD only, ID only, and ASD with ID. We conducted a multinomial logistic regression analysis, controlling for identified risk factors for ASD (mother’s age, race, body-mass index, preeclampsia, and gestational diabetes). Results: NSAID use during pregnancy was found to be associated with ID only in both unadjusted and adjusted analyses. Children with mothers who had NSAID prescriptions were 26% more likely to have ID in comparison with children whose mothers did not have NSAID prescriptions (odds ratio: 1.26 [1.10-1.46]). The other risk factors identified for ASD were maternal age, race, preeclampsia, smoking, low birth weight, and obesity. For ID, the risk factors were maternal age, race, smoking, birth weight, overweight, and obesity, all of which were also associated with ASD with ID, except for overweight. Conclusions: NSAID usage during pregnancy was found to be associated with ID only and not with ASD. However, more research is needed to validate the effect of NSAIDs during pregnancy on ASD and ID among children.

Lien vers le texte intégral (Open Access ou abonnement)

2. D’Elia A, Schiavi S, Manduca A, Rava A, Buzzelli V, Ascone F, Orsini T, Putti S, Soluri A, Galli F, Soluri A, Mattei M, Cicconi R, Massari R, Trezza V. FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability. Scientific reports. 2022; 12(1): 22535.

Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder emerging in early life characterized by impairments in social interaction, poor verbal and non-verbal communication, and repetitive patterns of behaviors. Among the best-known genetic risk factors for ASD, there are mutations causing the loss of the Fragile X Messenger Ribonucleoprotein 1 (FMRP) leading to Fragile X syndrome (FXS), a common form of inherited intellectual disability and the leading monogenic cause of ASD. Being a pivotal regulator of motor activity, motivation, attention, and reward processing, dopaminergic neurotransmission has a key role in several neuropsychiatric disorders, including ASD. Fmr1 (Δ)exon 8 rats have been validated as a genetic model of ASD based on FMR1 deletion, and they are also a rat model of FXS. Here, we performed behavioral, biochemical and in vivo SPECT neuroimaging experiments to investigate whether Fmr1 (Δ)exon 8 rats display ASD-like repetitive behaviors associated with changes in striatal dopamine transporter (DAT) availability assessed through in vivo SPECT neuroimaging. At the behavioral level, Fmr1 (Δ)exon 8 rats displayed hyperactivity in the open field test in the absence of repetitive behaviors in the hole board test. However, these behavioral alterations were not associated with changes in striatal DAT availability as assessed by non-invasive in vivo SPECT and Western blot analyses.

Lien vers le texte intégral (Open Access ou abonnement)

3. Filler T, Benipal PK, Minhas RS, Suleman S. Exploring the impact of COVID-19 on families of children with developmental disabilities: A community-based formative study. Paediatrics & child health. 2022; 27(8): 476-81.

BACKGROUND: COVID-19 continues to disproportionately impact families of children with developmental disabilities (DD). There is an urgent need to understand these families’ experiences, particularly those that face economic or social marginalization. This qualitative study sought to identify the experiences of families of children with DD during the COVID-19 pandemic. METHODS: Using phenomenology, in-depth interviews (IDIs) were conducted with caregivers and health care providers of children with DD living in a large urban Canadian city. Interviews were recorded, transcribed, and coded using inductive coding methods by two independent coders. Transcripts were analyzed within and across stakeholder groups using thematic analysis. RESULTS: A total of 25 IDIs were conducted in 2020. 3 main themes and 7 sub-themes emerged related to the experiences of parents and health care providers for children with DD: families reported difficulty adhering to public health measures leading to isolation and increased parental stress; restricted access to in-person services worsened behaviour and development; and worsened household financial security in already marginalized families. CONCLUSIONS: Our study demonstrates that families of children with DD have been negatively impacted by the evolving environment from the COVID-19 pandemic, and even more so in those who face social and economic challenges. Public health restrictions have impaired the daily lives of these families and our study suggests that limitations to accessing in-person services may have long-lasting impacts on the well-being of families of children with DD. It is imperative that the unique needs of these families be considered and centred for future interventions.

Lien vers le texte intégral (Open Access ou abonnement)

4. Friedman C. A Report on the Increased Payment Rates for HCBS for People with Intellectual and Developmental Disabilities During the COVID-19 Pandemic. Journal of developmental and physical disabilities. 2022: 1-20.

Recognizing the crisis the COVID-19 pandemic represents to the Home- and Community-Based Services (HCBS) service system and the health, safety, and quality of life of people with intellectual and developmental disabilities (IDD), states temporarily amended their HCBS programs to strengthen service delivery. States are able to temporarily amend their HCBS 1915(c) waiver programs by submitting Appendix K: Emergency Preparedness and Response Waivers to the Centers for Medicare and Medicaid Services (CMS). The aim of this study was to examine if, and how, states increased their reimbursement rates for HCBS IDD waiver services during the COVID-19 pandemic. To do so, we analyzed 294 Appendix Ks which amended HCBS 1915(c) waivers for people with IDD between the start of the pandemic and April 2022. During the pandemic, 34 states and the District of Columbia increased reimbursement rates for 2,435 services provided by 82 HCBS waivers for people with IDD. Increase in reimbursement rates ranged from 3.5% to 160.7%, with an average increase of 23.3%. States most frequently increased reimbursement for supports to live in one’s own home, residential habilitation, and health and professional services. In addition, 12 states and the District of Columbia offered one-time supplemental payments through 25 HCBS waivers for people with IDD. While increasing payments during the pandemic likely helped stabilize the HCBS service system during this period of crisis, what remains to be seen is how the IDD service system will function when this additional funding is discontinued.

Lien vers le texte intégral (Open Access ou abonnement)

5. Gioia R, Seri T, Diamanti T, Fimmanò S, Vitale M, Ahlenius H, Kokaia Z, Tirone F, Micheli L, Biagioni S, Lupo G, Rinaldi A, De Jaco A, Cacci E. Adult hippocampal neurogenesis and social behavioural deficits in the R451C Neuroligin3 mouse model of autism are reverted by the antidepressant Fluoxetine. Journal of neurochemistry. 2022.

Neuron generation persists throughout life in the hippocampus but is altered in animal models of neurological and neuropsychiatric diseases, suggesting that disease-associated decline in cognitive and emotional hippocampal-dependent behaviours might be functionally linked with dysregulation of post-natal neurogenesis. Depletion of the adult neural stem/progenitor cell (NSPCs) pool and neurogenic decline have been recently described in mice expressing synaptic susceptibility genes associated with autism spectrum disorder (ASDs). To gain further insight into mechanisms regulating neurogenesis in mice carrying mutations in synaptic genes related to monogenic ASDs, we used the R451C Neuroligin3 knock-in (Nlgn3 KI) mouse, which is characterized by structural brain abnormalities, deficits in synaptic functions, and reduced sociability. We show that the number of adult-born neurons, but not the size of the NSPC pool, was reduced in the ventral dentate gyrus in knock-in mice. Notably, this neurogenic decline was rescued by daily injecting mice with 10 mg/Kg of the antidepressant fluoxetine for twenty consecutive days. Sustained treatment also improved KI mice sociability and increased the number of c-Fos active adult-born neurons, compared with vehicle-injected KI mice. Our study uncovers neurogenesis-mediated alterations in the brain of R451C KI mouse, showing that the R451C Nlgn3 mutation leads to lasting, albeit pharmacologically reversible, changes in the brain, affecting neuron formation in the adult hippocampus. Our results suggest that fluoxetine can ameliorate social behaviour in KI mice, at least in part, by rescuing adult hippocampal neurogenesis, which may be relevant for the pharmacological treatment of ASDs.

Lien vers le texte intégral (Open Access ou abonnement)

6. Schelinski S, von Kriegstein K. Responses in left inferior frontal gyrus are altered for speech-in-noise processing, but not for clear speech in autism. Brain and behavior. 2022: e2848.

INTRODUCTION: Autistic individuals often have difficulties with recognizing what another person is saying in noisy conditions such as in a crowded classroom or a restaurant. The underlying neural mechanisms of this speech perception difficulty are unclear. In typically developed individuals, three cerebral cortex regions are particularly related to speech-in-noise perception: the left inferior frontal gyrus (IFG), the right insula, and the left inferior parietal lobule (IPL). Here, we tested whether responses in these cerebral cortex regions are altered in speech-in-noise perception in autism. METHODS: Seventeen autistic adults and 17 typically developed controls (matched pairwise on age, sex, and IQ) performed an auditory-only speech recognition task during functional magnetic resonance imaging (fMRI). Speech was presented either with noise (noise condition) or without noise (no noise condition, i.e., clear speech). RESULTS: In the left IFG, blood-oxygenation-level-dependent (BOLD) responses were higher in the control compared to the autism group for recognizing speech-in-noise compared to clear speech. For this contrast, both groups had similar response magnitudes in the right insula and left IPL. Additionally, we replicated previous findings that BOLD responses in speech-related and auditory brain regions (including bilateral superior temporal sulcus and Heschl’s gyrus) for clear speech were similar in both groups and that voice identity recognition was impaired for clear and noisy speech in autism. DISCUSSION: Our findings show that in autism, the processing of speech is particularly reduced under noisy conditions in the left IFG-a dysfunction that might be important in explaining restricted speech comprehension in noisy environments.

Lien vers le texte intégral (Open Access ou abonnement)

7. Townsend AN, Guzick AG, Hertz AG, Kerns CM, Goodman WK, Berry LN, Kendall PC, Wood JJ, Storch EA. Anger Outbursts in Youth with ASD and Anxiety: Phenomenology and Relationship with Family Accommodation. Child psychiatry and human development. 2022.

Anger outbursts (AO) are associated with severe symptoms, impairment and poorer treatment outcomes for anxious children, though limited research has examined AO in youth with co-occurring autism and anxiety disorders. This study examined AO in children with autism and anxiety by evaluating clinical characteristics, family accommodation, and changes in AO following anxiety-focused treatment. The sample comprised 167 youth with autism and anxiety enrolled in a multi-site randomized clinical trial comparing standard care CBT for anxiety, CBT adapted for youth with autism, and usual care. Most participants (60%) had AO, which contributed to impairment above and beyond anxiety and autism. AO impacted functional impairment indirectly through a pathway of parental accommodation. AO reduced with anxiety-focused treatment. Findings highlight that AO are common in this population and uniquely contribute to functional impairment, indicating a need for direct targeting in treatment.

Lien vers le texte intégral (Open Access ou abonnement)

8. Zaidman-Zait A, Curle D, Jamieson JR. Health-related quality of life among mothers of children with cochlear implants with and without developmental disabilities. Research in developmental disabilities. 2022; 133: 104397.

BACKGROUND: Cochlear implants (CIs) are widely used among children with severe to profound hearing loss. Raising a child with a CI presents unique challenges to the family, especially when the child has a developmental disability (CI-DD). AIMS: This study aimed to elucidate the relations between the functioning of children with CIs, their mothers’ coping resources (i.e., social support and family-centered care), and maternal health-related quality of life (HRQoL). Also, it examined whether the presence of a DD in addition to the child’s deafness moderated these relations. METHODS AND PROCEDURES: A sample of 100 mothers of children with CIs (54 in the CI-DD group) completed questionnaires regarding perceived social support, family-centered care, and HRQoL. OUTCOMES AND RESULTS: Mothers of deaf children with CIs and DD experienced lower levels of family functioning and HRQoL across all dimensions compared to mothers of deaf children with CIs without DD. In addition, social support was positively related to HRQoL only among mothers of children in the CI-DD group, indicating the protective role of social support. CONCLUSIONS AND IMPLICATIONS: Social support is an important coping resource, and psychosocial support is needed for mothers of children with CIs, especially for mothers whose children also have a DD.

Lien vers le texte intégral (Open Access ou abonnement)