1. A MM, M AH, Aboulghate A, Abu-Mandil Hassan N, W SM, A SI, S MES, N HA, H BM, M HM, G AE, Elsaied A, E AA, A SE, Abdelhady S, S EE, M ME-S, S AE-M, N EH, H YB, N AE, Abdelrahman M, K MA. The odds of having obesity in Egyptian children with autism spectrum disorders is higher than stunting compared to healthy developing peers: a national survey. BMC Pediatr;2024 (Jul 20);24(1):465.

BACKGROUND: The nutritional status and growth of children with Autism spectrum disorders (ASD) is influenced significantly by two factors; food selectivity behaviors due to their consumption of a limited variety of food and the high incidence of gastrointestinal (GIT) disorders. AIM: This study aimed to assess the nutritional adequacy and growth pattern of ASD children aged three to twelve years compared to their healthy developing peers. METHODS: A national comparative, facility-based cross-sectional study was conducted in eight Egyptian governorates on 285 Egyptian children diagnosed with ASD and 224 children who are their relatives as healthy developing peers. Anthropometric measurements were obtained, including weight, height, head circumference, and mid-upper arm circumference. Body Mass Index (BMI) was calculated and all numbers were plotted on WHO growth charts. Assessment of food preferences, and nutrient intake adequacy of children was done using the Food preference questionnaire, and the Dietary Reference Intakes (DRIs) of Egyptian children. RESULTS: Calorie-dense food and sugar intake were higher among ASD children than their healthy developing peers. ASD children omit some important protein sources such as dairy (COR = 5.2, 95% CI:2.7-9.9), meat, and poultry (COR = 2.7, 95% CI: 1.6-4.7), and a lower intake of fruits and vegetables than their healthy developing peers. For children with ASD in all age groups, a deficiency in the range of 50-60% was detected for vitamins (C, D, B6, thiamine, riboflavin, niacin) and minerals (iron). A deficiency in the range of 60-70% was detected for folate and calcium. A deficiency of vitamin C calcium and iron was also detected for both children with ASD and their healthy developing relatives aged 6 to 12 years. GIT disorders were common among ASD children compared to healthy developing peers (COR = 2.8 to 10.3). Children with ASD had four-fold higher odds of stunting (COR = 4.1, CI: 1.7-10.1), threefold higher odds of being overweight (COR = 3.3, CI: 1.48-7.32), and nearly eleven-fold higher odds of obesity (COR = 11.4, CI: 4.05-32.17) compared to their healthy developing peers. CONCLUSION: ASD children are prone to overweight and protein malnutrition. Their intake of fruits and vegetables is inadequate and hence their intake of vitamins and minerals is insufficient, contributing to stunting.

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2. Hedlund Å, Jordal M. Feeling like an untapped resource. Experiences of working life among nurses with ADHD and/or autism: An interview study. Int J Nurs Stud;2024 (Jul 6);158:104857.

BACKGROUND: ADHD and autism are common and increasing neurodevelopmental disorders in the world and also occur among nurses. However, almost nothing is known about nurses with these diagnoses. To promote high-quality care provision and well-being in the nursing workforce, it is important to discover more about these nurses. Therefore, in the present study, we aimed to describe how nurses with ADHD and/or autism experience their working life. METHODS: The study was descriptive in design. Nurses were invited via Swedish Facebook groups targeting nurses. Semi-structured individual interviews were conducted with 17 nurses with ADHD and/or autism, online or by telephone. Data were analyzed using qualitative content analysis. RESULTS: One overarching theme and seven subthemes emerged from the analysis. The theme « feeling like an untapped resource » reflected the subthemes: 1) Being passionate about one’s job, 2) having strengths and talents to use in working life, 3) a stressful and disturbing work environment inhibits personal strengths, 4) managers show goodwill but lack knowledge and resources, 5) feeling appreciated but socially different among colleagues, 6) using a variety of strategies to facilitate working life and 7) toward an uncertain future. CONCLUSION: Nurses with ADHD and/or autism experience having abilities and talents that are useful in the nursing profession. However, they feel that the physical and organizational working conditions and lack of managerial support entail challenges that prevent them from making optimal use of their strengths.

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3. Hussein MH, Alameen AA, Ansari MA, AlSharari SD, Ahmad SF, Attia MSM, Sarawi WS, Nadeem A, Bakheet SA, Attia SM. Semaglutide ameliorated autism-like behaviors and DNA repair efficiency in male BTBR mice by recovering DNA repair gene expression. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jul 18);135:111091.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is marked by impaired social interactions, and increased repetitive behaviors. There is evidence of genetic changes in ASD, and several of these altered genes are linked to the process of DNA repair. Therefore, individuals with ASD must have improved DNA repair efficiency to mitigate risks associated with ASD. Despite numerous milestones in ASD research, the disease remains incurable, with a high occurrence rate and substantial financial burdens. This motivates scientists to search for new drugs to manage the disease. Disruption of glucagon-like peptide-1 (GLP-1) signaling, a regulator in neuronal development and maintains homeostasis, has been associated with the pathogenesis and progression of several neurological disorders, such as ASD. Our study aimed to assess the impact of semaglutide, a new GLP-1 analog antidiabetic medication, on behavioral phenotypes and DNA repair efficiency in the BTBR autistic mouse model. Furthermore, we elucidated the underlying mechanism(s) responsible for the ameliorative effects of semaglutide against behavioral problems and DNA repair deficiency in BTBR mice. The current results demonstrate that repeated treatment with semaglutide efficiently decreased autism-like behaviors in BTBR mice without affecting motor performance. Semaglutide also mitigated spontaneous DNA damage and enhanced DNA repair efficiency in the BTBR mice as determined by comet assay. Moreover, administering semaglutide recovered oxidant-antioxidant balance in BTBR mice. Semaglutide restored the disrupted DNA damage/repair pathways in the BTBR mice by reducing Gadd45a expression and increasing Ogg1 and Xrcc1 expression at both the mRNA and protein levels. This suggests that semaglutide holds great potential as a novel therapeutic candidate for treating ASD traits.

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4. Liu S, Xi H, Xue X, Sun X, Huang H, Fu D, Mi Y, He Y, Yang P, Tang Y, Zheng P. Clostridium butyricum regulates intestinal barrier function via trek1 to improve behavioral abnormalities in mice with autism spectrum disorder. Cell Biosci;2024 (Jul 21);14(1):95.

BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that has been found to be associated with dysregulation of gastrointestinal functions and gut microbial homeostasis (the so-called « gut-brain axis »). ASD is often accompanied by poor performances in social interaction and repetitive behaviors. Studies on the gut-brain axis provide novel insights and candidate targets for ASD therapeutics and diagnosis. Based on the ASD mice model, this work aims to reveal the mechanisms behind the interaction of intestinal barrier function and probiotics in ASD mouse models. RESULTS: We found an altered intestinal barrier in both BTBR T(+) Itpr3(tf)/J (BTBR) and valproic acid (VPA) mice, including increased intestinal permeability, decreased expression of intestinal tight junction proteins (claudin1, claudin3, and occludin), and increased levels of IL-6, TNF-α, and IFN-γ. Based on intestinal microbial alternation, C. butyricum can drive reduced expression of histone deacetylases 1 (HDAC1) and enhanced intestinal barrier function, significantly promoting behavioral abnormalities of ASD in BTBR mice. In parallel, we confirmed that C. butyricum was involved in the regulation of intestinal function by the Trek1 channel, indicating that it is a target of C. butyricum/butyric acid to improve intestinal barrier function in ASD mice. CONCLUSIONS: Our finding provides solid evidence for the gut microbiota involved in ASD through the brain-gut axis. In addition, the probiotics C. butyricum hold promise to improve gut health and ameliorate behavioral abnormalities associated with ASD.

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5. Naguy A, Alamiri B. Autism spectrum disorder, social pragmatic communication disorder, developmental language disorder- multimorbidity or mutual exclusivity?. Asian J Psychiatr;2024 (Jul 17);99:104162.

Diagnostic confusion commonly arises when assessing for social communicative dysfunction. Clinicians are tasked to differentiate ASD, social pragmatic disorder and developmental language disorders, which can be difficult to contemplate on clinical grounds. Here, authors provide some helpful clinical tips to tease it out.

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6. Paolizzi E, Perzolli S, Bentenuto A, Bertamini G, Venuti P. Characterization of dyadic interaction features between fathers and mothers playing with their autistic children. Acta Psychol (Amst);2024 (Jul 18);248:104411.

BACKGROUND: Socio-communicative difficulties are a core symptom of autism that deeply impact interaction with others. Despite that, research on bidirectional caregiver-child interaction variables has been notably scant and predominantly focused on autistic children’s interactive differences and the consequences on parenting behaviors. AIM: The study aimed to assess parent-child interaction in the context of autism through observational validated instruments that consider qualitative and structural features in a complementary way to obtain a comprehensive characterization of the exchange within the dyad. METHODS AND PROCEDURES: This study involved 56 paired parent-child dyads of 28 autistic children (mean age = 38.60 months, sd = 9.50) playing with their mothers and their fathers for 10 min. The video-recorded sessions were coded through the Emotional Availability Scales (EAS) and the Interpersonal Synchrony (IS) coding system. OUTCOMES AND RESULTS: Fathers and mothers do not show significant differences in ISexcept for mother widenings, which are more frequent and successful, and in Emotional Availability. Further, dyads present moderate levels of Emotional Availability, indicating that parents may struggle with structuring, sensitivity, and interactive abilities with their autistic children, which in turn present low levels of responsiveness and involvement. Further, we explored an association between IS and EA characteristics. CONCLUSION AND IMPLICATIONS: This study suggests the need for interventions to target interaction considering both caregivers, ultimately targeting both interaction structure and affect features. Research that includes fathers fosters strategies for individualization and treatment optimization.

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7. Peters SU, Shelton AR, Malow BA, Neul JL. A clinical-translational review of sleep problems in neurodevelopmental disabilities. J Neurodev Disord;2024 (Jul 20);16(1):41.

Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families.

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8. Serrano M, Elias M, Llorens M, Bolasell M, Vall-Roqué H, Villalta L. Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial. Trials;2024 (Jul 20);25(1):496.

BACKGROUND: Children with genetic conditions are at increased risk for mental health and neurodevelopmental problems, often accompanied by significant parental distress. Genetic and family factors can impact children and parents’ mental health. Early parenting interventions, like the Incredible Years® programs, have demonstrated to improve parental distress and children’s mental health. The recent version for young children with language delays or autism spectrum disorder (IY-ASLD®) has shown to be feasible and effective to support parents in their children’s developmental trajectories. The effectiveness of treatments for children with genetic conditions and neurodevelopmental problems is largely unexplored, leaving significant gaps in evidence-based options. Clinicians lack guidance, especially when patients exhibit language or social communication impairments but do not meet diagnostic criteria for a full-blown autism spectrum disorder (ASD). We aim to fill this gap, providing evidence on the feasibility and effectiveness of the IY-ASLD® intervention for such patients. METHODS: We designed a prospective multicenter pragmatic randomized controlled trial including approximately 68 children aged 3 to 7 years, recruited from three tertiary care reference hospitals. Inclusion criteria will necessitate genetic confirmation of a neurodevelopmental disorder along with language, communication, or socialization difficulties. Individuals with an ASD diagnosis will be excluded. All subjects are included in a territorial register for rare conditions (ReMin, Registre de Malalties Minoritàries de Catalunya). Families will randomly be assigned to the intervention or the control group. The intervention will be held online by clinical psychologists and child and adolescent psychiatrists. DISCUSSION: Our group has recently piloted the online implementation of the IY-ASLD® intervention for the first time in Spain, for parents of children with language delays, socialization difficulties, or ASD, but not genetically determined. Our multicenter research consortium is well-positioned to recruit patients with rare conditions and implement efficient treatment pathways within the National Health System. Given the geographical dispersion of families affected by rare conditions, the online format offers logistical advantages and improved therapy access, enhancing homogeneity across all patients. The results of this study will inform clinicians and policymakers about evidence-based treatment options for this vulnerable and overlooked group of young children. TRIAL REGISTRATION: ClinicalTrials.gov NCT06125093 . Date of registration: first submitted 2023-10-23; first posted 2023-11-09. URL of trial registry record.

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9. Xue J, Zhu Y, Pan Y, Huang H, Wei L, Peng Y, Xi H, Zhou S, Wu H, Gu Z, Huang W, Wang H, Duan R. Strategic Implementation of Fragile X Carrier Screening in China: A Focused Pilot Study. J Mol Diagn;2024 (Jul 18)

Fragile X syndrome (FXS) is the leading genetic cause of intellectual disability and autism spectrum disorders. Female premutation carriers exhibit no obvious symptoms during reproductive age, but the premutation allele can expand to full mutation when transmitted to the fetus.. Given the relatively low prevalence but large population, the distinct healthcare system, the middle-income economic status, and low awareness among public and medical professionals, the optimal genetic screening strategy remains unknown. We conducted a pilot study of Fragile X carrier screening in China, involving 22,245 pregnant women and women with childbearing intentions, divided into control and pilot groups. The prevalence of Fragile X carriers in the control group was 1/850, similar to East Asian populations. Strikingly, the prevalence of Fragile X carriers in the pilot group was 1/356, which can be attributed to extensive medical training, participant education, and rigorous genetic counseling and testing protocols. Cost-effectiveness analyses of four strategies-no screening, population-based screening, targeted screening, and our pilot screening-indicated that our pilot screening was the most cost-effective option. A follow-up survey revealed that 55% of respondents reported undergoing screening due to their family history. We have successfully established a standardized system, addressing the challenges of low prevalence, limited awareness, and genetic testing complexities. Our study provides practical recommendations for implementing Fragile X carrier screening in China.

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10. Yazdani A, Samms-Vaughan M, Saroukhani S, Bressler J, Hessabi M, Tahanan A, Grove ML, Gangnus T, Putluri V, Kamal AHM, Putluri N, Loveland KA, Rahbar MH. Metabolomic Profiles in Jamaican Children With and Without Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jul 20)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, metabolic perturbations associated with ASD, which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls in order to identify specific metabolites that may serve as biomarkers for the disorder. We conducted metabolomic profiling on plasma samples from participants in the second phase of Epidemiological Research on Autism in Jamaica, an age and sex-matched cohort of 200 children with ASD and 200 TD controls (2-8 years old). Using high-throughput liquid chromatography-mass spectrometry techniques, we performed a targeted metabolite analysis, encompassing amino acids, lipids, carbohydrates, and other key metabolic compounds. After quality control and missing data imputation, we performed univariable and multivariable analysis using normalized metabolites while adjusting for covariates, age, sex, socioeconomic status, and child’s parish of birth. Our findings revealed unique metabolic patterns in children with ASD for four metabolites compared to TD controls. Notably, three metabolites were fatty acids, including myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. The amino acid sarcosine exhibited a significant association with ASD. These findings highlight the role of metabolites in the etiology of ASD and suggest opportunities for the development of targeted interventions.

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