1. Albini M, Almacellas-Barbanoj A, Krawczun-Rygmaczewska A, Ciano L, Benfenati F, Michetti C, Cesca F. Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice. Int J Mol Sci;2024 (Feb 16);25(4)

Kinase D-interacting substrate of 220 kDa (Kidins220) is a transmembrane protein that participates in neural cell survival, maturation, and plasticity. Mutations in the human KIDINS220 gene are associated with a neurodevelopmental disorder (‘SINO’ syndrome) characterized by spastic paraplegia, intellectual disability, and in some cases, autism spectrum disorder. To better understand the pathophysiology of KIDINS220-linked pathologies, in this study, we assessed the sensory processing and social behavior of transgenic mouse lines with reduced Kidins220 expression: the CaMKII-driven conditional knockout (cKO) line, lacking Kidins220 in adult forebrain excitatory neurons, and the Kidins220floxed line, expressing constitutively lower protein levels. We show that alterations in Kidins220 expression levels and its splicing pattern cause impaired response to both auditory and olfactory stimuli. Both transgenic lines show impaired startle response to high intensity sounds, with preserved pre-pulsed inhibition, and strongly reduced social odor recognition. In the Kidins220floxed line, olfactory alterations are associated with deficits in social memory and increased aggressive behavior. Our results broaden our knowledge of the SINO syndrome; understanding sensory information processing and its deviations under neuropathological conditions is crucial for devising future therapeutic strategies to enhance the quality of life of affected individuals.

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2. Boettcher J, Orm S, Fjermestad KW. Autism traits, social withdrawal, and behavioral and emotional problems in a Norwegian cohort of adolescents with rare genetic disorders. Res Dev Disabil;2024 (Feb 16);147:104699.

BACKGROUND: Adolescents with rare genetic disorders represent a population that can be at risk in psychosocial terms. Despite its importance, the association of autism traits and social withdrawal in behavioral and emotional problems in adolescents with rare genetic disorders remains understudied. AIM: The study aimed to empirically examine the clinical characteristics of adolescents with rare genetic disorders with a behavior theory-driven approach. METHOD: We investigated the behavioral and emotional problems and current and lifetime autistic traits in a sample of 93 Norwegian adolescents (M(age) = 13.2 years, SD(age) = 2.4, range(age) 10-17, 62.4% females, 37.6% males) with various rare genetic disorders. The adolescents were investigated cross-sectionally utilizing standardized psychometric questionnaires rated by their parents. RESULTS: More current and lifetime autistic traits and social withdrawal were all associated with more internalizing problems. Further analyses demonstrated that social withdrawal partially mediated the positive association between current autistic traits and internalizing problems. In contrast, social withdrawal fully mediated the positive association between lifetime autistic traits and internalizing problems. CONCLUSION AND IMPLICATIONS: Our results demonstrate important characteristics of adolescents with rare genetic disorders that may guide clinicians and future interventions. Social withdrawal may be prodromal to internalizing problems such as anxiety and depression. Thus, clinically addressing social withdrawal can represent a means to prevent internalizing problems in adolescents with rare genetic disorders and autistic traits.

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3. Burrows CA, Zheng S. Better measures needed to mitigate sex bias in autism identification. Lancet Child Adolesc Health;2024 (Mar);8(3):e5.

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4. Chien CW, Lin CY, Lai CYY, Graham F. Parent coaching to enhance community participation in young children with developmental disabilities: A pilot randomized controlled trial. Res Dev Disabil;2024 (Feb 14);147:104696.

BACKGROUND: Parent coaching emerges as a preferred approach for enhancing performance and participation of children with developmental disabilities (DD), but limited clinical trials examine its effects on community participation. AIM: To evaluate whether parent coaching, specifically using Occupational Performance Coaching (OPC), enhances community participation among young children with DD. METHOD AND PROCEDURES: A pilot double-blind randomized controlled trial was conducted. Parents of 50 children with DD (31 male, 19 female, mean age 4 years 10 months) were randomly assigned to the OPC group (n = 25) or parent consultation group (n = 25). Each parent received a maximum of eight coaching sessions or consultations. The primary outcome was children’s community participation as assessed through parent-report measures at baseline, pre-intervention, post-intervention, and an 8-week follow-up. OUTCOMES AND RESULTS: Both groups showed significant improvements in parent-identified, goal-specific community participation after the intervention (mean difference [MD]=2.26-2.56), and these improvements were sustained during the follow-up. Despite a trend favoring parent coaching, the group difference in the improvements was not evident (MD=0.18-0.28). Both groups displayed positive improvements in children’s overall community involvement post-intervention (MD=0.32); however, the time effects were not statistically significant. CONCLUSIONS AND IMPLICATIONS: OPC, by coaching parents, could enhance goal-specific community participation in children with DD, producing effects similar to those achieved through parent consultation.

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5. Darwish M, Passarell J, Youakim JM, Bradley H, Bishop KM. Exposure-Response Efficacy Modeling to Support Trofinetide Dosing in Individuals with Rett Syndrome. Adv Ther;2024 (Feb 16)

INTRODUCTION: Trofinetide was recently approved for the treatment of Rett syndrome (RTT) on the basis of the efficacy and safety findings of the phase 3 LAVENDER study, which used a body weight-based dosing regimen. Exposure-response (E-R) efficacy modeling was used to characterize relationships between trofinetide exposure measures (maximum drug concentration and area under the concentration-time curve for the dosing interval of 0-12 h [AUC(0-12)]) and efficacy endpoints in RTT clinical studies to support the trofinetide dosing regimen. METHODS: Efficacy endpoints were modeled using trofinetide exposure measures predicted from the population pharmacokinetic model and Bayesian estimates. The analysis population for each E-R model comprised individuals receiving placebo or trofinetide who had available trofinetide exposure measures. Efficacy endpoints were scores from the Rett Syndrome Behaviour Questionnaire (RSBQ), the Clinical Global Impression-Improvement, the Communication and Symbolic Behavior Scales Developmental Profile™ Infant-Toddler Checklist (CSBS-DP-IT) Social Composite, and the Rett Syndrome Clinician Rating of Ability to Communicate Choices (RTT-COMC). RESULTS: Higher trofinetide exposure was associated with improvements in RSBQ, CSBS-DP-IT Social Composite, and RTT-COMC scores. Assuming target trofinetide AUC(0-12) values of 800-1200 μg·h/mL, the reductions in RSBQ total scores at week 12 were approximately five- to seven-fold greater with trofinetide (range 3.55-4.94) versus placebo (0.76). Significant E-R relationships were also found for the CSBS-DP-IT Social Composite and RTT-COMC scores. CONCLUSION: E-R efficacy modeling demonstrated significant relationships between trofinetide exposure and RSBQ, CSBS-DP-IT Social Composite, and RTT-COMC scores. Trofinetide is efficacious within the target exposure range, supporting the approved dosing regimen for trofinetide. TRIAL REGISTRATION: NCT01703533, NCT02715115, NCT04181723. Trofinetide is the first approved treatment for people living with Rett syndrome, a rare genetic condition affecting brain development. This approval was based on the findings of clinical studies in which trofinetide showed significant improvements in the symptoms of Rett syndrome. In this study researchers were looking to see if the level of trofinetide in the blood was related to the level of improvement in symptoms observed in clinical studies. Information on the effectiveness of trofinetide was obtained from the phase 3 LAVENDER study which used doses of trofinetide according to body weight. Trofinetide’s effectiveness was assessed on the basis of clinical measurements of key Rett syndrome symptoms. All the information on trofinetide dose, blood levels, and how much symptoms changed (i.e., effectiveness of trofinetide) was then used to develop models to predict symptom responses in the observed population. Researchers found that as the blood levels of trofinetide increased the symptom improvement also increased. When the blood levels were at the recommended level that was achieved in the LAVENDER study, the model predicted that symptom improvement was up to seven times greater with trofinetide than having no treatment (i.e., placebo). This study shows a positive relationship between trofinetide blood levels and improvement in the symptoms of Rett syndrome. Trofinetide was effective within the recommended blood level range in the LAVENDER study using the approved weight-based dosing. eng

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6. Earixson DQ, Hall KC, Marraccini ME, Calhoun CD. Adapting suicide safety plans for youth with intellectual and developmental disabilities. J Appl Res Intellect Disabil;2024 (Mar);37(2):e13198.

INTRODUCTION: Although risk for suicide appears elevated in individuals with intellectual and developmental disorders (I/DD), few interventions or tools addressing suicide prevention have been adapted for this population. Among evidence-based interventions for preventing suicide, safety planning interventions are an effective and commonly employed intervention for reducing suicide-related risk. METHODS: By drawing on Special Education praxis for supporting the learning needs of individuals with I/DD, we provide recommendations for adapting suicide safety planning interventions for youth with I/DD. RESULTS: Specific visual, content, teaching, and communication components of the safety plan intervention can be adapted to better meet the needs of youth with I/DD. DISCUSSION: Although future research is needed to evaluate these recommendations, these modifications may support clinicians serving youth with I/DD and suicide-related risk.

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7. Escudero SC, Sepúlveda EM. Pragmatic competence in people with dual diagnosis: down syndrome and autism spectrum disorder. BMC Psychol;2024 (Feb 15);12(1):74.

BACKGROUND: Pragmatics is an area that can be affected in a wide variety of disorders. In this sense, Syndromic Autism is defined as a disorder in which a causal link is established between an associated syndrome and Autism Spectrum Disorder (ASD). Likewise, Down Syndrome (DS) is one of the main genetically based syndromes in which ASD is described as one of its possible manifestations. In this direction, people with DS are described as social beings whereas in ASD there seems to be a specific alteration of this domain. METHODS: In this study, pragmatic performance was analysed in a sample of 72 participants, where comparisons were made between the scores obtained by children with ASD (n = 24), with DS (n = 24) and with DS + ASD (n = 24). RESULTS: The Social Communication Questionnaire (SCQ), the Block Objective and Criterial Language Battery (BLOC-SR) and the Neuropsychology subtest (NEPSY-II) aimed at Theory of Mind (ToM) identified significant differences between the groups. However, two-to-two comparisons reported no significant differences between DS and DS + ASD. CONCLUSIONS: Although several studies report differences between the three proposed groups, our data seem to suggest that ASD symptomatology in DS is associated with Intellectual Developmental Disorder (IDD). However, the lack of solid scientific evidence regarding comorbid diagnosis makes further research along these lines indispensable. TRIAL REGISTRATION: This study was approved by the Ethics Committee for Social Research at UCLM with reference CEIS-704,511-L8M4.

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8. Fontanals J, McCleery JP, Schatz P. Neurocognitive Concussion Test Performance for Student Athletes on the Autism Spectrum. Arch Clin Neuropsychol;2024 (Feb 13)

OBJECTIVE: To examine baseline neurocognitive functioning among adolescent athletes on the autism spectrum based on self-reported level of academic performance. METHOD: Participants in this cross-sectional, observational study were 6,441 adolescent athletes with a self-reported diagnosis of autism who completed pre-season neurocognitive testing using Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT); 4,742 reported a co-occurring learning disorder (LD), and 6,612 individuals without autism or LD were included as a control group. The majority (57%) self-reported Average Academic Performance, 39% Above Average, and 4% Below Average performance. RESULTS: Athletes with self-reported autism (with or without LD; 12.2%) were 2.74x (95% CI: 2.17-2.82) more likely to fall below cutoffs for ImPACT Embedded Invalidity Indicators (EVIs), with a significant interaction between self-reported Diagnosis and Academic Performance; individuals with co-occurring autism and LD who reported Below Average Academic Performance had the greatest likelihood of scoring below cutoffs (22%), followed by ASD without LD (14.8%) and Controls (14.6%) with Below Average Academic Performance. Analyses of variance (ANOVAs) revealed main effects of Diagnosis and Academic Performance on neurocognitive performance, with interactions on all ImPACT Composite Scores except Processing Speed. CONCLUSION: Athletes with self-reported ASD are more likely to fall below ImPACT EVIs and score worse on ImPACT, with greater likelihood/worse performance related to level of academic functioning. Academic performance should be considered when interpreting neurocognitive testing data, to best index neuropsychological functioning associated with concussion in this population. The current findings highlight the importance of individual participant baseline neuropsychological testing for individuals on the autism spectrum.

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9. Heidari N, Kumaran K, Pagano JJ, Hornberger LK. Natural History of Secundum ASD in Preterm and Term Neonates: A Comparative Study. Pediatr Cardiol;2024 (Feb 16)

Atrial septal defects (ASDs) are common in neonates. Although past studies suggest ASDs  ≥ 3 mm in term neonates (TNs) are less likely to close, there is paucity of data regarding the natural history in preterm neonates (PNs), information that would inform surveillance. We sought to compare spontaneous closure rates and need for intervention for ASDs in TNs/near term (≥ 36 weeks) versus PNs (< 36 weeks). We included all TNs and PNs who underwent echocardiography at ≤ 1 month between 2010 and 2018 in our institution with an ASD ≥ 3 mm, without major congenital heart disease, and with repeat echocardiogram(s). Spontaneous resolution was defined as size diminution to < 3 mm or closure. We included 156 TNs (mean gestational age at birth 38.6 ± 1.4 weeks) and 156 PNs (29.6 ± 3.7 weeks) with a mean age at follow-up of 16 ± 19 and 15 ± 21 months, respectively (p = 0.76). Based on maximum color Doppler diameter, in TNs, ASD resolution occurred in 95% of small (3-5 mm), 87% of moderate (5.1-8 mm), and 60% of large (> 8 mm) defects; whereas, in PNs, resolution occurred in 79% of small, 76% of moderate, and 33% of large ASDs. There was a significant association between size and ASD resolution in TNs (p = 0.003), but not PNs (p = 0.17). Overall, ASD resolution rate was higher in TNs (89%) versus PNs (78%) (p = 0.009), and fewer TNs (1%) compared to PNs (7%) required ASD intervention (p = 0.02). Most ASDs identified in TNs and PNs spontaneously resolve. PNs, however, demonstrate lower ASD resolution and higher intervention rates within all size groups. These data should inform follow-up of affected neonates.

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10. Jin T, Pang Q, Huang W, Xing D, He Z, Cao Z, Zhang T. Particulate matter 2.5 causally increased genetic risk of autism spectrum disorder. BMC Psychiatry;2024 (Feb 16);24(1):129.

BACKGROUND: Growing evidence suggested that particulate matter (PM) exhibit an increased risk of autism spectrum disorder (ASD). However, the causal association between PM and ASD risk remains unclear. METHODS: We performed two-sample Mendelian randomization (MR) analyses, using instrumental variables (IVs) sourced from the largest genome-wide association studies (GWAS) databases. We employed three MR methods: inverse-variance weighted (IVW), weighted median (WM), and MR-Egger, with IVW method serving as our primary MR method. Sensitivity analyses were performed to ensure the stability of these findings. RESULTS: The MR results suggested that PM(2.5) increased the genetic risk of ASD (β = 2.41, OR = 11.13, 95% CI: 2.54-48.76, P < 0.01), and similar result was found for PM(2.5) absorbance (β = 1.54, OR = 4.67, 95% CI: 1.21-18.01, P = 0.03). However, no such association was found in PM(10) (β = 0.27, OR = 1.30, 95% CI: 0.72-2.36, P = 0.38). After adjusting for the false discovery rate (FDR) correction, our MR results remain consistent. Sensitivity analyses did not find significant heterogeneity or horizontal pleiotropy. CONCLUSIONS: Our findings indicate that PM(2.5) is a potential risk factor for ASD. Effective strategies to mitigate air pollutants might lead to a reduced incidence of ASD.

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11. Kaur A, Lall G, Abhilashi M, Naithani L, Verma M, Roy R, Juneja M, Gulati S, Taylor C, Leadbitter K, Patel V, Green J, Divan G. Locked down-locked in: experiences of families of young children with autism spectrum disorders in Delhi, India. Front Public Health;2024;12:1294538.

INTRODUCTION: The onset of the COVID-19 pandemic and subsequent lockdowns in March 2020 disrupted the lives of families across India. The lockdown related restrictions brought forth a multitude of challenges including loss of employment, social isolation, school closures and financial burdens. Specifically, it also resulted in the restriction of health-care services for children with neurodevelopmental disabilities. METHODS: This qualitative study was conducted as a part of a larger trial in India to understand the experiences of families of young children with autism during the pandemic. In-depth interviews were carried out with 14 caregivers residing in New Delhi, India. RESULTS: Our findings identified pandemic and lockdown’s universal impacts on family life and financial stability stemming from job loss, business closure, and salary deductions, affecting quality of life of families. Furthermore, COVID-19 pandemic’s impact on autistic children was evident through limited access to essential services and financial challenges related service interruptions even after resumption of services. The lockdown’s novelty also affected children’s behavior, with both challenging behavioral changes and positive impacts. Primary caregivers, predominantly mothers, assumed additional responsibilities in household tasks, schooling, and therapy administration. While some these experiences were universally experienced, a few of these improved outcomes for autistic children. Despite challenges, parents expressed gratitude for their family’s safety and well-being during the difficult time. DISCUSSIONS: These findings inform service provision for vulnerable families and offer implications for designing interventions such as credit schemes for families, guidance and resources for establishing and maintaining routines of children with autism, adopting flexible and adaptable approaches to service delivery, and special provisions for children with autism to be able to maintain their routines outside of home. Furthermore, the study highlights the need for comprehensive support, including educational resources and stress management counselling to empower parents in supporting essential care and routines for their children during such unprecedented times.

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12. Kiehl I, Pease R, Hackmann C. The adult experience of being diagnosed with autism spectrum disorder: A qualitative meta-synthesis. Autism;2024 (Feb 15):13623613231220419.

There is little research looking at the experience of individuals diagnosed with autism spectrum disorder as adults. Adults diagnosed with autism spectrum disorder face different challenges than children, and more research is needed to better understand those challenges. For this review, autistic and non-autistic researchers looked at research on the experience of receiving a diagnosis of autism spectrum disorder as an adult. We looked for themes in people’s experience leading up to diagnosis, going through the diagnostic process, and living their life after diagnosis. We analyzed 24 studies and found three overarching themes that captured thirty-two themes describing the experience of diagnosis. The three overarching themes expressed issues with identity and relationships before and after the diagnosis and identified that the diagnosis of autism spectrum disorder in adulthood impacted people’s adaptation to and assimilation (i.e. the making sense of and internalizing the diagnosis) of autism spectrum disorder. While the diagnostic process itself was confusing and disappointing for many, it often led to a sense of relief and clarity regarding past experiences and had effects on identity and self-esteem. It created opportunities to connect with other autistic individuals and to access services, though appropriate supports were widely lacking. Recommendations are made that the impact of the diagnosis on people’s identity and choices about telling others about their diagnosis, and whether and how people want to make adaptations, should be discussed and thought through in the process of diagnosis.

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13. Kumari D, Lokanga RA, McCann C, Ried T, Usdin K. The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity. iScience;2024 (Feb 16);27(2):108814.

A long CGG-repeat tract in the FMR1 gene induces the epigenetic silencing that causes fragile X syndrome (FXS). Epigenetic changes include H4K20 trimethylation, a heterochromatic modification frequently implicated in transcriptional silencing. Here, we report that treatment with A-196, an inhibitor of SUV420H1/H2, the enzymes responsible for H4K20 di-/trimethylation, does not affect FMR1 transcription, but does result in increased chromosomal duplications. Increased duplications were also seen in FXS cells treated with SCR7, an inhibitor of Lig4, a ligase essential for NHEJ. Our study suggests that the fragile X (FX) locus is prone to spontaneous DNA damage that is normally repaired by NHEJ. We suggest that heterochromatinization of the FX allele may be triggered, at least in part, in response to this DNA damage.

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14. Li Y, Lu J, Zhang J, Gui W, Xie W. Molecular insights into enriched environments and behavioral improvements in autism: a systematic review and meta-analysis. Front Psychiatry;2024;15:1328240.

AIMS: Autism is a multifaceted developmental disorder of the nervous system, that necessitates novel therapeutic approaches beyond traditional medications and psychosomatic therapy, such as appropriate sensory integration training. This systematic mapping review aims to synthesize existing knowledge on enriching environmental interventions as an alternative avenue for improving autism, guiding future research and practice. METHOD: A comprehensive search using the terms ASD and Enriched Environment was conducted across PubMed, EMBASE, ISI, Cochrane, and OVID databases. Most of the literature included in this review was derived from animal model experiments, with a particular focus on assessing the effect of EE on autism-like behavior, along with related pathways and molecular mechanisms. Following extensive group discussion and screening, a total of 19 studies were included for analysis. RESULTS: Enriched environmental interventions exhibited the potential to induce both behavioral and biochemical changes, ameliorating autism-like behaviors in animal models. These improvements were attributed to the targeting of BDNF-related pathways, enhanced neurogenesis, and the regulation of glial inflammation. CONCLUSION: This paper underscores the positive impact of enriched environmental interventions on autism through a review of existing literature. The findings contribute to a deeper understanding of the underlying brain mechanisms associated with this intervention.

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15. Mendez AI, McQueen E, Gillespie S, Klin A, Klaiman C, Pickard K. Access to Part C, Early Intervention for children younger than 4 years evaluated for autism spectrum disorder. Autism;2024 (Feb 15):13623613241229150.

Health disparities are defined as preventable differences in the opportunities to achieve optimal health outcomes experienced by marginalized and underrepresented communities. For families with autistic children, health disparities limit accessing early intervention services-which have been found to improve quality of life and other outcomes. One specific early intervention service in the United States is Individuals with Disabilities Education Act, Part C Early Intervention programs, which are federally funded interventions for children birth-to-three with developmental delays. This study adds to this topic by examining which factors impact accessing Part C, Early Intervention services for children who were evaluated for autism. Results showed that only half of the sample received these services despite there being concerns about development for all children. In addition, results showed that those who identified as Black had decreased odds of having accessed Part C, Early Intervention compared to those who identified as White. These results suggest that there are disparities when it comes to accessing important early intervention services that may be negatively impacting the Black autistic community.

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16. Nedungadi P, Shah SM, Stokes MA, Kumar Nair V, Moorkoth A, Raman R. Mapping autism’s research landscape: trends in autism screening and its alignment with sustainable development goals. Front Psychiatry;2023;14:1294254.

INTRODUCTION: Autism Spectrum Disorder is a complex neurodevelopmental syndrome that profoundly affects social interactions, communication, and sensory perception. The research traced the evolution of autism research from 2011-2022, specifically focusing on the screening and diagnosis of children and students. METHODS: Through an analysis of 12,262 publications using the PRISMA framework, bibliographic coupling, science mapping, and citation analysis, this study illuminates the growth trajectory of ASD research and significant disparities in diagnosis and services. RESULTS: The study indicates an increasing trend in autism research, with a strong representation of female authorship. Open Access journals show a higher average citation impact compared to their closed counterparts. A keyword co-occurrence analysis revealed four central research themes: Child Development and Support Systems, Early Identification and Intervention, Prevalence and Etiology, and Mental Health. The pandemic’s onset has prioritized research areas like mental health, telehealth, and service accessibility. DISCUSSION: Recommendations on a global level stress the importance of developing timely biological markers for ASD, amplifying Disability Inclusion research, and personalizing mental health services to bridge these critical service gaps. These strategies, underpinned by interdisciplinary collaboration and telehealth innovation, particularly in low-resource settings, can offer a roadmap for inclusive, context-sensitive interventions at local levels that directly support SDG3’s aim for health and well-being for all.

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17. Pazol K, Tian LH, DiGuiseppi C, Durkin MS, Fallin MD, Moody EJ, Nadler C, Powell PS, Reyes N, Robinson B, Ryerson AB, Thierry JM, Tinker SC, Wiggins LD, Yeargin-Allsopp M. Health and Education Services During the COVID-19 Pandemic Among Young Children with Autism Spectrum Disorder and Other Developmental Disabilities. J Dev Behav Pediatr;2024 (Jan 1);45(1):e31-e38.

OBJECTIVE: Understanding how the COVID-19 pandemic affected children with disabilities is essential for future public health emergencies. We compared children with autism spectrum disorder (ASD) with those with another developmental disability (DD) and from the general population (POP) regarding (1) missed or delayed appointments for regular health/dental services, immunizations, and specialty services; (2) reasons for difficulty accessing care; and (3) use of remote learning and school supports. METHOD: Caregivers of children previously enrolled in the Study to Explore Early Development, a case-control study of children with ASD implemented during 2017 to 2020, were recontacted during January-June 2021 to learn about services during March-December 2020. Children were classified as ASD, DD, or POP during the initial study and were aged 3.4 to 7.5 years when their caregivers were recontacted during the pandemic. RESULTS: Over half of all children missed or delayed regular health/dental appointments (58.4%-65.2%). More children in the ASD versus DD and POP groups missed or delayed specialty services (75.7%, 58.3%, and 22.8%, respectively) and reported difficulties obtaining care of any type because of issues using telehealth and difficulty wearing a mask. During school closures, a smaller proportion of children with ASD versus another DD were offered live online classes (84.3% vs 91.1%), while a larger proportion had disrupted individualized education programs (50.0% vs 36.2%). CONCLUSION: Minimizing service disruptions for all children and ensuring continuity of specialty care for children with ASD is essential for future public health emergencies. Children may need additional services to compensate for disruptions during the pandemic.

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18. Proctor KB, Volkert VM, Klin A, Vickery BP, Sharp WG. The Intersection of Autism Spectrum Disorder, Food Allergy, and Avoidant/Restrictive Food Intake Disorder: A Clinical Case Study. J Pediatr;2024 (Feb 16):113965.

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19. Pucci V, La Face A, Gasteiger-Klicpera B, Mondini S. Cognitive reserve proxies for individuals with intellectual developmental disability: A scoping review. J Appl Res Intellect Disabil;2024 (Mar);37(2):e13204.

BACKGROUND: Cognitive reserve (CR) has not been studied in people with Intellectual Developmental Disability, a population with a high incidence of dementia. Commonly adopted CR proxies should be adapted to reflect more specifically the experiences of people with Intellectual Developmental Disability. METHOD: This scoping review intended to identify CR proxies relevant to people with this condition. RESULTS: Some of these were the same already detected in a population without intellectual disabilities (education, occupation, physical activity, leisure, community and social activities); others were found to be specifically relevant for this population: type of schooling, parental educational level, environmental stimulation and living place. CONCLUSIONS: These proxies need to be considered in studies on CR and Intellectual Developmental Disability and in clinical practice. Research on the protective effect of CR aims to encourage policies promoting lifestyle-based educational and preventive interventions and overcome participation barriers for people with Intellectual Developmental Disability.

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20. Sonuga-Barke EJS, Chandler S, Lukito S, Kakoulidou M, Moore G, Cooper N, Matejko M, Jackson I, Balwani B, Boyens T, Poulton D, Harvey-Nguyen L, Baker S, Pavlopoulou G. Participatory translational science of neurodivergence: model for attention-deficit/hyperactivity disorder and autism research. Br J Psychiatry;2024 (Feb 16):1-5.

BACKGROUND: There are increasing calls for neurodivergent peoples’ involvement in research into neurodevelopmental conditions. So far, however, this has tended to be achieved only through membership of external patient and public involvement (PPI) panels. The Regulating Emotions – Strengthening Adolescent Resilience (RE-STAR) programme is building a new participatory model of translational research that places young people with diagnoses of attention-deficit hyperactivity disorder (ADHD) and autism at the heart of the research team so that they can contribute to shaping and delivering its research plan. AIMS: To outline the principles on which the RE-STAR participatory model is based and describe its practical implementation and benefits, especially concerning the central role of members of the Youth Researcher Panel (Y-RPers). METHOD: The model presented is a culmination of a 24-month process during which Y-RPers moved from advisors to co-researchers integrated within RE-STAR. It is shaped by the principles of co-intentionality. The account here was agreed following multiple iterative cycles of collaborative discussion between academic researchers, Y-RPers and other stakeholders. RESULTS: Based on our collective reflections we offer general guidance on how to effectively integrate young people with diagnoses of ADHD and/or autism into the core of the translational research process. We also describe the specific theoretical, methodological and analytical benefits of Y-RPer involvement in RE-STAR. CONCLUSIONS: Although in its infancy, RE-STAR has demonstrated the model’s potential to enrich translational science in a way that can change our understanding of the relationship between autism, ADHD and mental health. When appropriately adapted we believe the model can be applied to other types of neurodivergence and/or mental health conditions.

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21. Suprunowicz M, Tomaszek N, Urbaniak A, Zackiewicz K, Modzelewski S, Waszkiewicz N. Between Dysbiosis, Maternal Immune Activation and Autism: Is There a Common Pathway?. Nutrients;2024 (Feb 16);16(4)

Autism spectrum disorder (ASD) is a neuropsychiatric condition characterized by impaired social interactions and repetitive stereotyped behaviors. Growing evidence highlights an important role of the gut-brain-microbiome axis in the pathogenesis of ASD. Research indicates an abnormal composition of the gut microbiome and the potential involvement of bacterial molecules in neuroinflammation and brain development disruptions. Concurrently, attention is directed towards the role of short-chain fatty acids (SCFAs) and impaired intestinal tightness. This comprehensive review emphasizes the potential impact of maternal gut microbiota changes on the development of autism in children, especially considering maternal immune activation (MIA). The following paper evaluates the impact of the birth route on the colonization of the child with bacteria in the first weeks of life. Furthermore, it explores the role of pro-inflammatory cytokines, such as IL-6 and IL-17a and mother’s obesity as potentially environmental factors of ASD. The purpose of this review is to advance our understanding of ASD pathogenesis, while also searching for the positive implications of the latest therapies, such as probiotics, prebiotics or fecal microbiota transplantation, targeting the gut microbiota and reducing inflammation. This review aims to provide valuable insights that could instruct future studies and treatments for individuals affected by ASD.

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22. Taddei M, Bulgheroni S, Erbetta A, Faccio F, Giorgi C, Riva D. Cerebellar cognitive affective syndrome with long-term features of autism spectrum disorder: evidence in a 9-year-old girl after vermian medulloblastoma surgery. Child Neuropsychol;2024 (Feb 16):1-9.

The time course of socio-communicative disturbances in children after posterior fossa tumor resection is variable in clinical reports, and its assessment may help to understand the role of the cerebellum in the pathogenesis of socio-communicative disorders and improve rehabilitation plans. We report the 3-year cognitive-behavioral follow-up of a female patient (LZ) who underwent surgical ablation of the vermis due to medulloblastoma at age 9. LZ developed a severe post-operative Cerebellar Cognitive Affective Syndrome (CCAS) with cognitive-executive dysfunctions and behavioral alterations resembling an Autism Spectrum Disorder (ASD)-like syndrome. The lack of empathy and reduced ability to recognize others’ intentions and mental states persisted at follow-up evaluations, as did language alterations. The present case report evidenced that lesions affecting cerebellar and vermal lobules may cause severe CCAS and impairment of social skills overlapping with that observed in ASD. This case is significant in its clinical features, revealing long-term social impairment, while the cognitive, linguistic, and executive functioning improved over time. Prospective case studies should plan the evaluation of symptoms of ASD within the clinical longitudinal assessment.

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23. Tyszkiewicz-Gromisz B, Burdzicka-Wołowik J, Tymosiewicz P, Gromisz W. Parental Competences and Stress Levels in Mothers of Children with Autism Spectrum Disorders and Children Developing Neurotypically. J Clin Med;2024 (Feb 16);13(4)

(1) Background: the aim of this study was to explore parental competences and stress levels in the mothers of children with autism in relation to the mothers of neurotypical children. (2) Methods: the study used the Parental Competence Test and the PSS-10 scale to assess the intensity of stress related to one’s own life situation over the past month. Forty mothers of children with ASD (n = 20) and neurotypical children (n = 20) participated in the study. (3) Results: the mothers of children with ASD showed higher levels of stress (p = 0.0002). The mothers of neurotypical children achieved higher scores in parental competences (r = -0.49). The competence of mothers of children with ASD was correlated with rigour (r = 0.50), permissiveness (r = -0.60), overprotectiveness (r = 0.71), and helplessness (r = -0.77). (4) Conclusions: mothers of children with autism demonstrate lower parental competences than mothers of neurotypical children. Mothers of children with autism are less rigorous but more permissive, overprotective, and helpless. They tend to become heavily involved with their child. An overprotective attitude and greater tolerance for antisocial behaviours among parents of children with ASDs protect them from excessive stress.

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24. Villarreal VR, Katusic MZ, Myers SM, Weaver AL, Nocton JJ, Voigt RG. Risk of Autoimmune Disease in Research-Identified Cases of Autism Spectrum Disorder: A Longitudinal, Population-Based Birth Cohort Study. J Dev Behav Pediatr;2024 (Jan 1);45(1):e46-e53.

OBJECTIVE: Determine the risk of autoimmune disease in research-identified cases of autism spectrum disorder (ASD) compared with referents using a longitudinal, population-based birth cohort. METHODS: ASD incident cases were identified from a population-based birth cohort of 31,220 individuals. Inclusive ASD definition based on DSM-IV-TR autistic disorder, Asperger syndrome, and pervasive developmental disorder, not otherwise specified, was used to determine ASD cases. For each ASD case, 2 age- and sex-matched referents without ASD were identified. Diagnosis codes assigned between birth and December 2017 were electronically obtained. Individuals were classified as having an autoimmune disorder if they had at least 2 diagnosis codes more than 30 days apart. Cox proportional hazards models were fit to estimate the hazard ratio (HR) between ASD status and autoimmune disorder. RESULTS: Of 1014 ASD cases, 747 (73.7%) were male. Fifty ASD cases and 59 of the 1:2 matched referents were diagnosed with first autoimmune disorder at the median age of 14 and 17.1 years, respectively. ASD cases had increased risk of autoimmune disease compared with matched referents (HR 1.74; 95% confidence interval [CI], 1.21-2.52). The increased risk was statistically significant among male patients (HR 2.01; 95% CI, 1.26-3.21) but not among the smaller number of female subjects (HR 1.38; 95% CI, 0.76-2.50). CONCLUSION: This study provides evidence from a longitudinal, population-based birth cohort for co-occurrence of ASD and autoimmune disorders. Thus, children with ASD should be monitored for symptoms of autoimmune disease and appropriate workup initiated.

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25. Wong LC, Hsu CJ, Wu YT, Chu HF, Lin JH, Wang HP, Hu SC, Tsai YC, Tsai WC, Lee WT. Investigating the impact of probiotic on neurological outcomes in Rett syndrome: A randomized, double-blind, and placebo-controlled pilot study. Autism;2024 (Feb 15):13623613231225899.

Rett syndrome often involves gastrointestinal symptoms and gut microbiota imbalances. We conducted a study to explore the feasibility of probiotic Lactobacillus plantarum PS128 and the impact on neurological functions in Rett syndrome. The results of our investigation demonstrated that the supplementation of probiotic L. plantarum PS128 was feasible and well tolerated, with 100% retention rate and 0% withdrawal rate. In addition, there was only one participant who had loose stool after taking L. plantarum PS128. Further, there was a tendency to enhance overall cognitive developmental level, as assessed using Mullen Scales of Early Learning. In addition, it significantly improved dystonia, as assessed using the Burke-Fahn-Marsden Movement Scale, in comparison with the placebo group. This study provides a strong foundation for future research and clinical trials exploring the potential of L. plantarum PS128 probiotics as a complementary therapy for individuals with Rett syndrome.

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26. Zhang L, Wan ZX, Zhu JY, Liu HJ, Sun J, Zou XH, Zhang T, Li Y. A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression. Case Rep Pediatr;2024;2024:5539799.

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs(∗)8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.

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