1. Ault S, Helsabeck N, Breitenstein SM, Tucker S, Havercamp SM, Ford JL. A secondary analysis examining the influence of emotional support on the mental health of caregivers of children with autism spectrum disorder. J Pediatr Nurs;2024 (Jan 19)

PURPOSE: The study purpose was to examine the effect of emotional support on the overall mental health and stress for caregivers of children with autism spectrum disorder (ASD). METHODS: A cross-sectional retrospective study using secondary data from the 2016-2019 National Survey of Children’s Health was conducted using single variable and multivariable linear regression analyses. RESULTS: More informal emotional support sources were associated with better overall mental health (β = 0.124, SE = 0.015, p < .001) and reduced stress (β = -0.261, SE = 0.039, p < .001) for caregivers of children with ASD, controlling for covariates. The number of formal emotional support sources was not significantly associated with caregiver overall mental health or stress when controlling for covariates. Increased amounts of total emotional support sources were significantly associated with increased overall mental health (β = 0.042, SE = 0.010, p < .001) and reduced stress (β = -0.093, SE = 0.024, p < .001) for caregivers. Other factors significantly associated with caregiver outcomes included caregiver sex, caregiver marital status, caregiver education level, economic hardship, child sex, child race/ethnicity, ASD severity, and child receipt of ASD treatment. CONCLUSION: More emotional support sources, in particular informal support sources, may be a protective factor for well-being for caregivers of children with ASD. PRACTICE IMPLICATIONS: Health care providers should evaluate the impact of their formal support services on caregivers of children with ASD and advocate for increased informal and formal support resources for these caregivers.

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2. Bury SM, Hedley D, Uljarević M, Li X, Stokes MA, Begeer S. Employment profiles of autistic people: An 8-year longitudinal study. Autism;2024 (Jan 19):13623613231225798.

Autistic adults experience difficulties finding and keeping employment. However, research investigating reasons that might explain this difficulty produce mixed results. We gave a survey to 2449 autistic adults and used a statistic method to group them based on their employment status over 8 years. We identified four employment groups that best captured the experiences of autistic adults; this included a group that experienced stable unemployment, a group that experienced stable employment, a group that had high employment that reduced over time, and a group whose employment increased over the 8 years. Further analysis showed that those with fewer autistic traits, younger age, male gender, higher education, later diagnosis age and no co-occurring conditions were more likely to have stable employment. People whose employment changed over time were more likely to have a higher level of education than the stable unemployment group, and those in the increasing employment group were younger age and had no co-occurring conditions. These findings help us better understand that not all autistic adults’ experiences of employment are the same, which helps focus where employment programmes and support may be most needed, for example, people who identify as women or have a co-occurring condition.

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3. Chen X, Tong J, Zhang W, Wang X, Ma S, Shi D, Yan D, Liu Y. Factors predicting depressive symptoms in parents of children with autism spectrum disorder in eastern China. BMC Public Health;2024 (Jan 18);24(1):226.

BACKGROUND: Parents of children with autism spectrum disorder (ASD) are at a higher risk of depression than parents of typically developing children and those of children with other developmental disorders. Depression affects the well-being and quality of life of parents of children with ASD and has serious consequences for the long-term health outcomes of children with ASD. Therefore, this study explored the current status of depressive symptoms in parents of children with ASD in eastern China and further analyzed multiple aspects of the predictors of depressive symptoms. METHODS: A multicenter cross-sectional survey was conducted among parents of children with ASD in the rehabilitation department of a large specialized hospital and 10 rehabilitation centers for children with special needs in Lianyungang, Jiangsu Province, Eastern China. A structured questionnaire that focused on child-related factors, parent-related factors, depressive symptoms, courtesy stigma, and social support was used to obtain data. Binary logistic regression was used to identify the independent predictors of depressive symptoms in parents of children with ASD. RESULTS: A total of 409 parents of children with ASD were recruited, of whom 18.8% had depressive symptoms. Parents of children with ASD who raised a child who spoke few to no words (odds ratio [OR]: 2.747, 95% confidence interval [CI]: 1.026-7.357), claimed a high economic burden (OR: 3.215, 95% CI: 1.234-8.379), reported no change or increased severity of ASD in their children (OR: 2.518, 95% CI: 1.108-5.720), and those with a higher courtesy stigma score (OR: 1.189, 95% CI: 1.093-1.294) were more likely to have depressive symptoms. Conversely, parents of children with ASD who were employed (OR: 0.427, 95% CI: 0.201-0.907), satisfied with their current marital status (OR: 0.429, 95% CI: 0.221-0.834), and those with a higher social support score (OR: 0.973, 95% CI: 0.950-0.996) were less likely to have depressive symptoms. CONCLUSIONS: Depressive symptoms are common in parents of children with ASD in eastern China. Therefore, screening and intervention for depressive symptoms in parents of children with ASD is necessary, especially for those with high-risk factors.

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4. Daramjav N, Takagi J, Iwayama H, Kanemoto K, Otake K. Quetiapine and Valproic Acid-induced Central Hypothyroidism in a Patient with Autism Spectrum Disorder and Intractable Epilepsy: A Case Report. Endocr Metab Immune Disord Drug Targets;2024 (Jan 19)

OBJECTIVES: Patients with an autism spectrum disorder (ASD) are prone to disruptive behaviors and aggression. Atypical antipsychotics are used to treat these difficult ASD conditions. Several psychotropic drugs have been linked to hypothyroidism. The clinical manifestation of hypothyroidism is indistinguishable from that of an antipsychotic’s general adverse effect, which can lead to a delayed or missed diagnosis. Conversely, thyroid dysfunction can exhibit an impact on mood, anxiety, depression, and cognitive functions. CASE STUDY: We present a case of central hypothyroidism caused by long-term use of valproic acid (VPA) and adding quetiapine to risperidone. The current case had a history of hyperprolactinemia and subclinical hypothyroidism caused by risperidone and VPA, respectively, before the administration of quetiapine. CONCLUSION: This is the first report of quetiapine-induced central hypothyroidism in a patient with ASD, as determined by a thyrotropin-releasing hormone (TRH) loading test. TRH loading test may be useful in elucidating the pathogenesis of hypothyroidism in patients receiving quetiapine and VPA. Thyroid function monitoring in patients taking quetiapine and VPA may provide an opportunity to begin replacement therapy.

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5. Ellis H, Nicholls T. How the Moonshot Vision can unite autistic research and partnerships. Autism;2024 (Jan 19):13623613231222733.

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6. Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Further characterisation of ARX-related disorders in females due to inherited or de novo variants. J Med Genet;2024 (Jan 19);61(2):103-108.

The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomplete. Carrier females in ARX families are usually asymptomatic, but ID has been reported in some of them, as well as in others with de novo variants. In this study, we collected the clinical and molecular data of 10 unpublished female patients with de novo ARX pathogenic variants and reviewed the data of 63 females from the literature with either de novo variants (n=10), inherited variants (n=33) or variants of unknown inheritance (n=20). Altogether, the clinical spectrum of females with heterozygous pathogenic ARX variants is broad: 42.5% are asymptomatic, 16.4% have isolated agenesis of the corpus callosum (ACC) or mild symptoms (learning disabilities, autism spectrum disorder, drug-responsive epilepsy) without ID, whereas 41% present with a severe phenotype (ie, ID or developmental and epileptic encephalopathy (DEE)). The ID/DEE phenotype was significantly more prevalent in females carrying de novo variants (75%, n=15/20) versus in those carrying inherited variants (27.3%, n=9/33). ACC was observed in 66.7% (n=24/36) of females who underwent a brain MRI. By refining the clinical spectrum of females carrying ARX pathogenic variants, we show that ID is a frequent sign in females with this X linked condition.

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7. Groenman AP, Torenvliet C, Radhoe TA, Agelink van Rentergem JA, van der Putten W, Altgassen M, Geurts HM. Remembering the future; prospective memory across the autistic adult’s life span. Autism;2024 (Jan 19):13623613231225489.

What is already known: Prospective memory is an important function for daily living. It is the cognitive function that helps you remember that you are meeting your friend for coffee at 2 pm tomorrow, or that you need to take your vitamins after breakfast. This cognitive function is particularly important in autistic adults, but how prospective memory is associated with increasing age, we currently do not know.What this paper adds: Although performance on experimental tasks that measure prospective memory decreases with age, this pattern is similar in autistic and non-autistic adults. No age effects were found for tasks that were performed outside the lab. Autistic adults and non-autistic adults perform similarly on prospective memory, and this performance remains similar when autistic and non-autistic adults age.Implications for practice, research, or policy: While our results show that prospective memory decreased with increasing age, our results do point to parallel development of prospective memory in autistic and non-autistic adults. This finding serves as a reassurance for those individuals concerned that older autistic individuals might show quicker cognitive decline.

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8. Hamilton J, Finch T, Le Couteur A, Mackintosh J, Petrou A, Garland D, Parr JR. The lived experiences of relatives of autistic adults, and their perceptions of their relationships with autistic adults across multiple age-related transitions and demands: A qualitative interview study with reflexive thematic analysis. PLoS One;2024;19(1):e0294232.

BACKGROUND: There is a need to better understand autism across the life course, including the lives of both autistic people and supporting relatives. As part of a larger mixed methods cohort study involving autistic adults, carers and relatives this sub-study focused on the experiences of relatives alone to learn more about the lives of people from the wider personal networks. Our research questions were: 1. What are the experiences of family members who care for and/or support autistic adults, 2. How can the viewpoints of relatives add to what we know about transitions and challenges experienced by autistic adults, and 3. What strategies/support have been helpful for adults and relatives? METHODS: Relatives of autistic adults were purposively sampled and recruited using the Relatives/Carers cohort from the Adult Autism Spectrum Cohort-UK. 18 participants aged 31-81years who were related to 16 autistic adults aged 18-57years were interviewed for 24-91minutes. Interview transcripts were examined using reflexive thematic analysis. MAIN FINDINGS: Two overarching themes were developed, ‘Family support goes a long way in caring for autistic adults’ and ‘When families turn to society for support’ with subthemes. Relatives described benefits they had gained and their admiration for autistic adults. They reflected on how they gave support for independence in various contexts of dependence. They also identified the challenges that both autistic adults and families face navigating support systems (for example for healthcare and employment). An important novel outcome was the advocated value of role-models with lived experience who come from outside of the family. RECOMMENDATIONS: The findings lead to recommendations for: (i) Strategies to reduce the barriers for support that are faced by autistic individuals and relatives during crisis points; (ii) recognition and support for what enables both relatives and autistic adults to function independently (e.g. funded activities, flexible employment); (iii) future planning conversations to include relatives who can enhance knowledge and help plan for future care or support needs for autistic adults and (iv) opportunities for role models (persons with lived experience, autistic adults and relatives) to inspire others and disseminate knowledge. CONCLUSIONS: These findings add valuable insights into the experiences of relatives of autistic adults and challenge the reader to have greater appreciation of the many roles relatives can contribute across time and in a variety of contexts. These perspectives add important information for those working with and planning provision for autistic adults.

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9. Kenny L, Remington A, Pellicano E. Everyday executive function issues from the perspectives of autistic adolescents and their parents: Theoretical and empirical implications. Autism;2024 (Jan 19):13623613231224093.

Autism researchers have a long-time interest in a set of skills called executive function. These skills include planning, inhibition, and switching between one activity and another. There was a theory that these skills explained the social and thinking difficulties autistic people might have. After years of study into this, the evidence is confusing and contradictory. Autistic people tend to report struggling quite a lot with these skills. Yet, when researchers test these skills, they do not tend to find such big difficulties. In this study, we spoke to 12 autistic teenagers and seven of their mothers about this. We asked them what they thought about their own, or their child’s, executive function skills. We wanted to know about things they were good at and things they struggled with. They told us that their skills were very changeable from one context to the next and from one time to the next. According to their reports, their skills depended on how motivated they were by doing the task. Another thing that influenced their skills were how anxious they felt at the time they needed to use the skill. Finally, they told us that sometimes they think differently about how best to perform a task. We discuss what these insights mean for autism researchers who study these skills. In future, research should ask people about their experiences alongside testing their abilities in different contexts. Combining these information sources will give us a better understanding of autistic people’s everyday skills as well as how best to support them.

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10. Khan FA, Fang N, Zhang W, Ji S. The multifaceted role of Fragile X-Related Protein 1 (FXR1) in cellular processes: an updated review on cancer and clinical applications. Cell Death Dis;2024 (Jan 18);15(1):72.

RNA-binding proteins (RBPs) modulate the expression level of several target RNAs (such as mRNAs) post-transcriptionally through interactions with unique binding sites in the 3′-untranslated region. There is mounting information that suggests RBP dysregulation plays a significant role in carcinogenesis. However, the function of FMR1 autosomal homolog 1(FXR1) in malignancies is just beginning to be unveiled. Due to the diversity of their RNA-binding domains and functional adaptability, FXR1 can regulate diverse transcript processing. Changes in FXR1 interaction with RNA networks have been linked to the emergence of cancer, although the theoretical framework defining these alterations in interaction is insufficient. Alteration in FXR1 expression or localization has been linked to the mRNAs of cancer suppressor genes, cancer-causing genes, and genes involved in genomic expression stability. In particular, FXR1-mediated gene regulation involves in several cellular phenomena related to cancer growth, metastasis, epithelial-mesenchymal transition, senescence, apoptosis, and angiogenesis. FXR1 dysregulation has been implicated in diverse cancer types, suggesting its diagnostic and therapeutic potential. However, the molecular mechanisms and biological effects of FXR1 regulation in cancer have yet to be understood. This review highlights the current knowledge of FXR1 expression and function in various cancer situations, emphasizing its functional variety and complexity. We further address the challenges and opportunities of targeting FXR1 for cancer diagnosis and treatment and propose future directions for FXR1 research in oncology. This work intends to provide an in-depth review of FXR1 as an emerging oncotarget with multiple roles and implications in cancer biology and therapy.

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11. Marra PM, Fiorillo L, Cervino G, D’Amico C, Crimi S, Meto A, Minervini G, Cicciù M. Dental problems in children with autism: a 5-year study. J Clin Pediatr Dent;2024 (Jan);48(1):26-31.

Caries experience of children and complex clinical circumstances are an actual challenge for any healthcare professional. To investigate the early childhood caries (ECC) in autistic and non autistic children (≤4 years of age) evaluating the amount of dental damage and the treatments carried out in both groups. Data regarding the oral health status of 40 patients (≤4 years of age) were assembled. The sample group was constituted of 20 autistic children (12 males with a mean age of 2.5 years and 8 females with a mean age of 3.2 years) whereas 20 patients without the autistic spectrum represented the control group (11 males with a mean age of 3 and 9 females with a mean age of 3.3 years). There were no significant differences between the two groups as regards both the extent of dental damage and the treatments carried out. About the frequency, in the autistic group, the most frequent caries were the white spots and enamel proximal lesions (2.2%), followed by only white spots (1.2%) and brown-black cavities and root stumps (0.6%). In the control group, the brown-black cavities and root stumps represented the most frequent findings (2.2%), followed by white spots and enamel proximal lesions (1.4%) and white spots (0.4%). Regarding the treatments, the most repeated management of dental damage among autistic patients was composite restorations (2.2%) while in nonautistic patients were tooth extractions (2%).

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12. Martini MI, Butwicka A, Du Rietz E, Kanina A, Rosenqvist MA, Larsson H, Lichtenstein P, Taylor MJ. Age effects on autism heritability and etiological stability of autistic traits. J Child Psychol Psychiatry;2024 (Jan 18)

BACKGROUND: Autism and autistic traits onset in childhood but persist into adulthood. Little is known about how genetic and environmental factors influence autism and autistic traits into adulthood. We aimed to determine age effects on the heritability of clinically diagnosed autism and the etiological stability of autistic traits from childhood to adulthood using twin methods. METHODS: From 23,849 twin pairs in the Swedish Twin Register born between 1959 and 2010, we identified 485 individuals (1.01%, 31.5% female) with a clinical autism diagnosis. We estimated and compared the relative contribution of genetic, shared, and nonshared environmental influences to autism in childhood and adulthood. We further used multivariate twin analysis with four measurement points among 1,348 twin pairs in the longitudinal Twin Study of Child and Adolescent Development to assess the phenotypic and etiological stability of autistic traits – measured with three scales from the Child Behavior Checklist – from childhood to adulthood. RESULTS: Autism heritability was comparable from childhood, (96% [95% CI, 76-99%]) to adulthood (87% [67-96%]). Autistic traits were moderately stable (phenotypic correlation = 0.35-0.61) from childhood to adulthood, and their heritability varied between 52 and 71%. We observed stable as well as newly emerging genetic influences on autistic traits from ages 8-9 to 19-20, and unique nonshared environmental influences at each age. CONCLUSIONS: Genetic factors are important for autism and autistic traits in adulthood and separate genetic studies in adults are warranted.

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13. Mitchell MM, Klott A, Scholtes J, Braden BB, Smith CJ, Matthews NL. Mixed-methods examination of attitudes and behaviors related to COVID-19 vaccines among parents of children with autism and autistic adults. Vaccine;2024 (Jan 19)

Increased risks associated with Coronavirus disease 2019 (COVID-19) among individuals with autism spectrum disorder (ASD) combined with previous reports of heightened vaccine hesitancy among parents of children with ASD indicate the need for a better understanding of attitudes and behaviors related to COVID-19 vaccines among the ASD community. This study is the first to our knowledge to use a mixed-methods approach to understand attitudes toward COVID-19 vaccines among parents of children with ASD and autistic adults. Participants were 135 members of the ASD community residing in the state of Arizona (99 parents of children with ASD and 36 autistic adults) who responded to the third (Spring 2021) and fourth (Summer 2021) time points of a larger longitudinal online survey. Quantitative findings indicated that autistic adults had slightly more favorable attitudes toward COVID-19 vaccines than parents, and attitudes in both subsamples became more positive over time. However, both parents and autistic adults reported COVID-19 vaccine uptake that was consistent with or better than the general population at both time points. Thematic analysis of responses to open-ended questions identified five themes that characterized factors that contributed to participants’ decisions about COVID-19 vaccinations, including: (1) Desiring a Return to Normalcy, (2) Protection of Self and Others, (3) Previous Experience with COVID-19 (4) Science and Medical Professionals,and (5) Skepticism Regarding Safety, Effectiveness, and Need. Current findings combined with emerging literature paint a relatively optimistic picture about COVID-19 vaccine acceptance in the ASD community.

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14. Moraitopoulou G, Pickard H, Simonoff E, Pickles A, Bedford R, Carter Leno V. No association between alexithymia and emotion recognition or theory of mind in a sample of adolescents enhanced for autistic traits. Autism;2024 (Jan 19):13623613231221928.

Alexithymia is a sub-clinical condition characterised by difficulties identifying and describing one’s own emotions, which is found in many, but not all autistic people. The alexithymia hypothesis suggests that certain aspects of socio-cognitive functioning typically attributed to autism, namely difficulties in emotion recognition, might be better explained by often co-occurring alexithymia. It is important to understand what is specific to autism and what is due to other co-occurring characteristics to develop appropriate support for autistic people. However, most research on this topic has been conducted in adults, which limits our knowledge about the relevance of this theory to younger autistic populations. This study tested whether difficulties in emotion recognition and theory of mind traditionally associated with autism might be better explained by alexithymia in a sample of adolescents with and without a diagnosis of autism. Results found that difficulties in emotion recognition and theory of mind were both associated with autistic traits, and this was not accounted for by individual differences in levels of alexithymia. This research suggests that more work is needed to understand the applicability of the alexithymia hypothesis in younger populations, but that at least in adolescents and when using parent-report measures, alexithymia may not account for emotion recognition or theory of mind difficulties associated with autistic traits.

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15. Pettersson E, Christensen BM, Berglund IG, Nylander E, Huus K. Children with autism spectrum disorder in high technology medicine environments; a qualitative systematic review of parental perspectives. Syst Rev;2024 (Jan 18);13(1):34.

BACKGROUND: Children with autism spectrum disorders are frequent visitors to high technology environments, and their needs may differ from those of their typically developed peers. Procedures in high technology environments can constitute a challenge for these children and their parents since the environment presents many challenges relevant to the child’s impairments. This systematic review aimed to explore the experiences of children with autism spectrum disorders and their parents during procedures in a high technology environment. METHODS: The following sources were searched for this systematic review: Cochrane CENTRAL Trials, CINAHL, Dentistry and Oral Sciences Source, MEDLINE, PsycINFO, Scopus, and Web of Science Core Collection. The search terms included variants of the following concepts: (1) children with autism spectrum disorder and/or their parents and (2) anesthesia or radiographic departments. Publications were not limited by date or study design. RESULT: Out of 13,389 bibliographic records, nine studies were eligible for synthesis. After another search in October 2022, one additional study was eligible for synthesis.None of the studies reported children’s experiences, and all ten reported their parents’ experiences. Only one study was conducted in a radiographic context. Parents’ experiences were both positive and negative and were categorized into two main categories: (1) challenges in a new environment and (2) health care professionals’ approaches. CONCLUSION: Studies describing children’s experiences with procedures in high technology environments are lacking. The parents described a need for health care professionals to work in structured ways with their child and to be able to make suitable adaptations. SYSTEMATIC REVIEW REGISTRATION: This systematic review was registered in advance on the Open Science Framework, https://doi.org/10.17605/OSF.IO/5TXWJ .

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16. Sahuquillo-Leal R, Perea M, Moreno-Giménez A, Salmerón L, Andreu J, Pons D, Vento M, García-Blanco A. Emotional Face Processing in Autism Spectrum Condition: A Study of Attentional Orienting and Inhibitory Control. J Autism Dev Disord;2024 (Jan 18)

A core feature of Autistic Spectrum Condition (ASC) is the presence of difficulties in social interactions. This can be explained by an atypical attentional processing of social information: individuals with ASC may show problems with orienting attention to socially relevant stimuli and/or inhibiting their attentional responses to irrelevant ones. To shed light on this issue, we examined attentional orienting and inhibitory control to emotional stimuli (angry, happy, and neutral faces). An antisaccade task (with both prosaccade and antisacade blocks) was applied to a final sample of 29 children with ASC and 27 children with typical development (TD). Whereas children with ASC committed more antisaccade errors when seeing angry faces than happy or neutral ones, TD children committed more antisaccade errors when encountering happy faces than neutral faces. Furthermore, latencies in the prosaccade and antisaccade blocks were longer in children with ASC and they were associated with the severity of ASC symptoms. Thus, children with ASC showed an impaired inhibitory control when angry faces were presented. This bias to negative high-arousal information is congruent with affective information-processing theories on ASC, suggesting that threatening stimuli induce an overwhelming response in ASC. Therapeutic strategies where train the shift attention to emotional stimuli (i.e. faces) may improve ASC symptomatology and their socials functioning.

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17. Sesay MM, McCracken CE, Stewart C, Simon G, Penfold R, Ahmedani B, Rossom RC, Lu CY, Beck A, Coleman KJ, Daida Y, Lynch FL, Zeber J, Copeland L, Owen-Smith A. Short report: Transition to International Classification of Diseases, 10th Revision and the prevalence of autism in a cohort of healthcare systems. Autism;2024 (Jan 19):13623613231220687.

Currently, the prevalence of autism spectrum disorder (henceforth « autism ») is 1 in 36, an increasing trend from previous estimates. In 2015, the United States adopted a new version (International Classification of Diseases, 10th Revision) of the World Health Organization coding system, a standard for classifying medical conditions. Our goal was to examine how the transition to this new coding system impacted autism diagnoses in 10 healthcare systems. We obtained information from electronic medical records and insurance claims data from July 2014 through December 2016 for each healthcare system. We used member enrollment data for 30 consecutive months to observe changes 15 months before and after adoption of the new coding system. Overall, the rates of autism per 1000 enrolled members was increasing for 0- to 5-year-olds before transition to International Classification of Diseases, 10th Revision and did not substantively change after the new coding was in place. There was variation observed in autism diagnoses before and after transition to International Classification of Diseases, 10th Revision for other age groups. The change to the new coding system did not meaningfully affect autism rates at the participating healthcare systems. The increase observed among 0- to 5-year-olds is likely indicative of an ongoing trend related to increases in screening for autism rather than a shift associated with the new coding.

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18. Severino L, Kim J, Nam MH, McHugh TJ. From synapses to circuits: What mouse models have taught us about how autism spectrum disorder impacts hippocampal function. Neurosci Biobehav Rev;2024 (Jan 19):105559.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that impacts a variety of cognitive and behavioral domains. While a genetic component of ASD has been well-established, none of the numerous syndromic genes identified in humans accounts for more than 1% of the clinical patients. Due to this large number of target genes, numerous mouse models of the disorder have been generated. However, the focus on distinct brain circuits, behavioral phenotypes and diverse experimental approaches has made it difficult to synthesize the overwhelming number of model animal studies into concrete throughlines that connect the data across levels of investigation. Here we chose to focus on one circuit, the hippocampus, and one hypothesis, a shift in excitatory/inhibitory balance, to examine, from the level of the tripartite synapse up to the level of in vivo circuit activity, the key commonalities across disparate models that can illustrate a path towards a better mechanistic understanding of ASD’s impact on hippocampal circuit function.

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19. Soto D, Salazar A, Elosegi P, Walter A, Mei N, Rodriguez E, Petrollini V, Vicente A. A novel image database for social concepts reveals preference biases in autistic spectrum in adults and children. Psychon Bull Rev;2024 (Jan 18)

Human beings display the extraordinary ability of grasping and communicating abstract concepts. Yet, no standardized instruments exist to assess this ability. Developing these tools is paramount for understanding abstract representations such as social concepts, with ramifications in educational and clinical settings. Here, we developed an image database depicting abstract social concepts varying in social desirability. We first validated the image database in a sample of neurotypical participants. Then, we applied the database to test different hypotheses regarding how social concepts are represented across samples of adults and children with autism spectrum condition (ASC). Relative to the neurotypicals, we did not observe differences related to ASC in identification performance of the social desirability of the concepts, nor differences in metacognitive ability. However, we observed a preference bias away from prosocial concepts that was linked to individual autistic traits in the neurotypicals, and higher in ASC relative to the neurotypicals both in adults and children. These results indicate that abstract representations such as social concepts are dependent on individual neurodevelopmental traits. The image database thus provides a standardized assessment tool for investigating the representation of abstract social concepts in the fields of psycholinguistics, neuropsychology, neuropsychiatry, and cognitive neuroscience, across different cultures and languages.

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20. Subramanian M, Mills WTt, Paranjpe MD, Onuchukwu US, Inamdar M, Maytin AR, Li X, Pomerantz JL, Meffert MK. Growth-suppressor microRNAs mediate synaptic overgrowth and behavioral deficits in Fragile X mental retardation protein deficiency. iScience;2024 (Jan 19);27(1):108676.

Abnormal neuronal and synapse growth is a core pathology resulting from deficiency of the Fragile X mental retardation protein (FMRP), but molecular links underlying the excessive synthesis of key synaptic proteins remain incompletely defined. We find that basal brain levels of the growth suppressor let-7 microRNA (miRNA) family are selectively lowered in FMRP-deficient mice and activity-dependent let-7 downregulation is abrogated. Primary let-7 miRNA transcripts are not altered in FMRP-deficiency and posttranscriptional misregulation occurs downstream of MAPK pathway induction and elevation of Lin28a, a let-7 biogenesis inhibitor. Neonatal restoration of brain let-7 miRNAs corrects hallmarks of FMRP-deficiency, including dendritic spine overgrowth and social and cognitive behavioral deficits, in adult mice. Blockade of MAPK hyperactivation normalizes let-7 miRNA levels in both brain and peripheral blood plasma from Fmr1 KO mice. These results implicate dysregulated let-7 miRNA biogenesis in the pathogenesis of FMRP-deficiency, and highlight let-7 miRNA-based strategies for future biomarker and therapeutic development.

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21. Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto EVF, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet;2024 (Jan 19);61(2):132-141.

BACKGROUND: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far. METHODS: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals. RESULTS: The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. The identified mutations concerned nonsense or frameshift variants that were mainly located in the last exon of the ZNF148 gene. Heterozygous deletion including the entire ZNF148 gene was found in only one case. Most mutations occurred de novo, but were inherited from an affected parent in two families. CONCLUSION: The GDACCF syndrome is clinically diverse, and a genotype-first approach, that is, exome sequencing is recommended for establishing a genetic diagnosis rather than a phenotype-first approach. However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously suggested, we therefore recommend to replace the term ‘GDACCF syndrome’ with ‘ZNF148-related neurodevelopmental disorder’.

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22. Trew S. Made to feel different: Families perspectives on external responses to autism and the impacts on family well-being and relationships. Autism;2024 (Jan 19):13623613231221684.

The influence of the environment on different groups of people with disabilities has rarely been studied in the context of neurodevelopmental disabilities, such as autism, in adolescence. This study explored how external responses to autism affect the experiences, outcomes and family relationships of autistic adolescents and their family members, including siblings and parents. This study adds to the knowledge of factors that contribute to the social disadvantage and exclusion autistic adolescents and their families face in their communities. Interviews with 30 participants from families with an autistic adolescent show that external factors greatly impact the well-being of autistic adolescents and their families. The school environment, including sensory overload, bullying and negative interactions with teachers, was found to be a key factor that negatively influenced mental health and family relationships. The study also revealed that isolation and stigma are major concerns for families, indicating the importance of public awareness campaigns to increase understanding of autism. In addition, the lack of adequate support and services presented significant challenges for families. The study emphasises the importance of person-centred approaches to providing services, which involve including autistic individuals and their families in designing and delivering support.

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