Pubmed du 09/03/23

Pubmed du jour

1. Alexander-Howden B, Zhang L, van der Sloot AM, Tollis S, St-Cyr DJ, Sicheri F, Bird AP, Tyers M, Lyst MJ. A screen for MeCP2-TBL1 interaction inhibitors using a luminescence-based assay. Sci Rep;2023 (Mar 8);13(1):3868.

Understanding the molecular pathology of neurodevelopmental disorders should aid the development of therapies for these conditions. In MeCP2 duplication syndrome (MDS)-a severe autism spectrum disorder-neuronal dysfunction is caused by increased levels of MeCP2. MeCP2 is a nuclear protein that binds to methylated DNA and recruits the nuclear co-repressor (NCoR) complex to chromatin via an interaction with the WD repeat-containing proteins TBL1 and TBLR1. The peptide motif in MeCP2 that binds to TBL1/TBLR1 is essential for the toxicity of excess MeCP2 in animal models of MDS, suggesting that small molecules capable of disrupting this interaction might be useful therapeutically. To facilitate the search for such compounds, we devised a simple and scalable NanoLuc luciferase complementation assay for measuring the interaction of MeCP2 with TBL1/TBLR1. The assay allowed excellent separation between positive and negative controls, and had low signal variance (Z-factor = 0.85). We interrogated compound libraries using this assay in combination with a counter-screen based on luciferase complementation by the two subunits of protein kinase A (PKA). Using this dual screening approach, we identified candidate inhibitors of the interaction between MeCP2 and TBL1/TBLR1. This work demonstrates the feasibility of future screens of large compound collections, which we anticipate will enable the development of small molecule therapeutics to ameliorate MDS.

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2. Andersen PN, Orm S, Fossum IN, Øie MG, Skogli EW. Adolescence internalizing problems as a mediator between autism diagnosis in childhood and quality of life in emerging adults with and without autism: a 10-year longitudinal study. BMC Psychiatry;2023 (Mar 9);23(1):149.

BACKGROUND: Individuals with autism tend to have a reduced quality of life across their lifespan. This reduced quality of life may be a result of autism traits, mental distress, and poor person/environment fit. In this longitudinal study, we looked at the role of adolescence internalizing and externalizing problems in mediating the relationship between having an autism diagnosis from childhood and perceived quality of life as emerging adults. METHODS: A total of 66 participants in a group of emerging adults with autism (mean age 22.2 years), and without autism (mean age 20.9 years) were assessed in three assessment waves (T1 at 12 years, T2 at 14 years, and T3 at 22 years of age). Parents filled out the Child Behavior Checklist at T2 and participants filled out the Perceived Quality of Life Questionnaire at T3. Total and indirect effects were tested in serial mediation analysis. RESULTS: The results showed that internalizing problems fully mediated the association between childhood autism diagnosis and the quality of life in emerging adulthood, while externalizing problems did not. CONCLUSION: Our findings suggest that attention to adolescent internalizing problems is important to improve the later quality of life for emerging adults with autism.

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3. Anderson JM, Boardman AA, Bates R, Zou X, Huang W, Cao L. Hypothalamic TrkB.FL overexpression improves metabolic outcomes in the BTBR mouse model of autism. PLoS One;2023;18(3):e0282566.

BTBR T+ Itpr3tf/J (BTBR) mice are used as a model of autism spectrum disorder (ASD), displaying similar behavioral and physiological deficits observed in patients with ASD. Our recent study found that implementation of an enriched environment (EE) in BTBR mice improved metabolic and behavioral outcomes. Brain-derived neurotrophic factor (Bdnf) and its receptor tropomyosin kinase receptor B (Ntrk2) were upregulated in the hypothalamus, hippocampus, and amygdala by implementing EE in BTBR mice, suggesting that BDNF-TrkB signaling plays a role in the EE-BTBR phenotype. Here, we used an adeno-associated virus (AAV) vector to overexpress the TrkB full-length (TrkB.FL) BDNF receptor in the BTBR mouse hypothalamus in order to assess whether hypothalamic BDNF-TrkB signaling is responsible for the improved metabolic and behavioral phenotypes associated with EE. Normal chow diet (NCD)-fed and high fat diet (HFD)-fed BTBR mice were randomized to receive either bilateral injections of AAV-TrkB.FL or AAV-YFP as control, and were subjected to metabolic and behavioral assessments up to 24 weeks post-injection. Both NCD and HFD TrkB.FL overexpressing mice displayed improved metabolic outcomes, characterized as reduced percent weight gain and increased energy expenditure. NCD TrkB.FL mice showed improved glycemic control, reduced adiposity, and increased lean mass. In NCD mice, TrkB.FL overexpression altered the ratio of TrkB.FL/TrkB.T1 protein expression and increased phosphorylation of PLCγ in the hypothalamus. TrkB.FL overexpression also upregulated expression of hypothalamic genes involved in energy regulation and altered expression of genes involved in thermogenesis, lipolysis, and energy expenditure in white adipose tissue and brown adipose tissue. In HFD mice, TrkB.FL overexpression increased phosphorylation of PLCγ. TrkB.FL overexpression in the hypothalamus did not improve behavioral deficits in either NCD or HFD mice. Together, these results suggest that enhancing hypothalamic TrkB.FL signaling improves metabolic health in BTBR mice.

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4. Bonfim TA, Giacon-Arruda BCC, Galera SAF, Teston EF, Nascimento F, Marcheti MA. Assistance to families of children with Autism Spectrum Disorders: Perceptions of the multiprofessional team. Rev Lat Am Enfermagem;2023 (Jan-Dec);31:e3780.

OBJECTIVE: to synthesize the care provided by health professionals, at different care levels, to the families of children with Autism Spectrum Disorders. METHOD: a qualitative study, based on the Family-Centered Care philosophical theoretical framework and developed with 22 professionals from three multidisciplinary teams from the Health Care Network of a municipality in the state of Mato Grosso do Sul, Brazil. The data were collected through two focus groups with each team, organized with the support of the Atlas.ti 8 Qualitative Data Analysis® software and submitted to Thematic Content Analysis. RESULTS: the findings show actions centered on specific situations, especially on the demands and needs arising from the child’s care and atypical behavior. Influencing factors for family care, such as work overload and little professional experience, show the weakness of multiprofessional care and the invisibility of the family as a care unit. CONCLUSION: the need is highlighted to review functioning of the network for the multiprofessional care of children and their families and how such network is organized. It is recommended to offer permanent education actions that contribute to the qualification of multiprofessional teams in the care of families of children in the autism spectrum.

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5. Brochier A, Messmer E, Wexler MG, Rogers S, Cottrell E, Tripodis Y, Garg A. A cross-sectional study of relationships between social risks and prevalence and severity of pediatric chronic conditions. BMC Pediatr;2023 (Mar 8);23(1):115.

BACKGROUND: To examine the differential relationships between seven social risk factors (individually and cumulatively) with the prevalence and severity of asthma, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and overweight/obesity in children. METHODS: Using the 2017-2018 National Survey of Children’s Health, we examined associations between social risk factors (caregiver education, caregiver underemployment, discrimination, food insecurity, insurance coverage, neighborhood support, and neighborhood safety) and the prevalence and severity of asthma, ADHD, ASD, and overweight/obesity. We used multivariable logistic regression to assess the relationship between individual and cumulative risk factors with each pediatric chronic condition, controlling for child sex and age. RESULTS: Although each social risk factor was significantly associated with increased prevalence and/or severity of at least one of the pediatric chronic conditions we investigated, food insecurity was significantly associated with higher disease prevalence and severity for all four conditions. Caregiver underemployment, low social support, and discrimination were significantly associated with higher disease prevalence across all conditions. For each additional social risk factor a child was exposed to, their odds of having each condition increased: overweight/obesity (aOR: 1.2, 95% CI: [1.2, 1.3]), asthma (aOR: 1.3, 95% CI: [1.2, 1.3], ADHD (aOR: 1.2, 95% CI: [1.2, 1.3]), and ASD (aOR: 1.4, 95% CI: [1.3, 1.5]). CONCLUSIONS: This study elucidates differential relationships between several social risk factors and the prevalence and severity of common pediatric chronic conditions. While more research is needed, our results suggest that social risks, particularly food insecurity, are potential factors in the development of pediatric chronic conditions.

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6. Buch AM, Vértes PE, Seidlitz J, Kim SH, Grosenick L, Liston C. Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder. Nat Neurosci;2023 (Mar 9)

The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD) are not well understood. Using a large neuroimaging dataset, we identified three latent dimensions of functional brain network connectivity that predicted individual differences in ASD behaviors and were stable in cross-validation. Clustering along these three dimensions revealed four reproducible ASD subgroups with distinct functional connectivity alterations in ASD-related networks and clinical symptom profiles that were reproducible in an independent sample. By integrating neuroimaging data with normative gene expression data from two independent transcriptomic atlases, we found that within each subgroup, ASD-related functional connectivity was explained by regional differences in the expression of distinct ASD-related gene sets. These gene sets were differentially associated with distinct molecular signaling pathways involving immune and synapse function, G-protein-coupled receptor signaling, protein synthesis and other processes. Collectively, our findings delineate atypical connectivity patterns underlying different forms of ASD that implicate distinct molecular signaling mechanisms.

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7. Butler LK, Shen L, Chenausky KV, La Valle C, Schwartz S, Tager-Flusberg H. Lexical and Morphosyntactic Profiles of Autistic Youth With Minimal or Low Spoken Language Skills. Am J Speech Lang Pathol;2023 (Mar 9);32(2):733-747.

PURPOSE: Autistic youth who are minimally or low verbal are underrepresented in research leaving little to no evidence base for supporting them and their families. To date, few studies have examined the types of words and word combinations these individuals use. The purpose of this study was to take a strengths-based approach to outline descriptive profiles of autistic youth who use few words and elucidate the lexical and morphosyntactic features of their spoken language. METHOD: We analyzed language samples from 49 autistic youth ages 6-21 years who used fewer than 200 words. Systematic Analysis of Language Transcripts was used to investigate the relationship between number of different words (NDW) and proportion of nouns and verbs (vs. other word classes), mean length of utterance in morphemes (MLUm), and the frequency of early developing morphosyntactic structures. We used linear regression to quantify the relationship between NDW and lexical and morphosyntactic features. RESULTS: Proportion of nouns and verbs produced did not increase significantly in those with higher NDW. Conversely, MLUm and the frequency of early developing morphosyntactic structures increased significantly in those with higher NDW. CONCLUSIONS: Youth with higher NDW did not produce more nouns and verbs, suggesting lexical profiles that are not aligned with spoken vocabulary level. Youth with higher NDW had higher MLUm and more early morphosyntactic forms, suggesting that morphosyntactic profiles align with spoken vocabulary level. We discuss the implications for improving clinical services related to spoken language.

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8. Chen KJ, Liu CM, Wei JC. Comment on: « Associations between parental psychiatric disorders and autism spectrum disorder in the offspring ». Autism Res;2023 (Mar 9)

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9. Cheney L, Dudas RB, Traynor JM, Beatson JA, Rao S, Choi-Kain LW. Co-Occurring Autism Spectrum and Borderline Personality Disorder: An Emerging Clinical Challenge Seeking Informed Interventions. Harv Rev Psychiatry;2023 (Mar-Apr 01);31(2):83-91.

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10. Chien YL, Wu CS, Chang YC, Cheong ML, Yao TC, Tsai HJ. Associations between parental psychiatric disorders and autism spectrum disorder in the offspring-A response. Autism Res;2023 (Mar 9)

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11. Cohen AL, Kroeck MR, Fox MD. Reply to « Is there an association between tuber involvement of the fusiform face area in autism diagnosis? ». Ann Neurol;2023 (Mar 9)

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12. Dehghani M, Jafarnezhadgero AA, Darvishani MA, Aali S, Granacher U. Effects of an 8-week multimodal exercise program on ground reaction forces and plantar pressure during walking in boys with autism spectrum disorder. Trials;2023 (Mar 8);24(1):170.

BACKGROUND: Autism spectrum disorder is a developmental disability with first signs appearing in children aged 3 years and younger. Given that autism spectrum disorder is accompanied by a broad range of symptoms such as impaired sensory, neurological, and neuromotor functions, it appears plausible to argue that an intervention program focusing on multimodal exercise rather than single-mode exercise might be more effective in treating this wide variety of symptoms. OBJECTIVE: The aim of this study was to evaluate the effects of a multimodal exercise program entitled Sports, Play, and Active Recreation for Kids on variables of ground reaction forces and plantar pressure during walking in boys with autism spectrum disorder. METHODS: Twenty-four autism spectrum disorder boys aged 7-11 years were recruited and randomly allocated into an intervention or a waiting control group. Sports, Play, and Active Recreation for Kids was conducted over a period of 8 weeks with three weekly sessions. This training protocol includes aerobic dance and jump rope exercises as well as running games. Pre- and post-training, ground reaction forces and plantar pressure variables were recorded while walking at a constant walking speed of 0.9 m/s using a foot scan embedded in a 15-m walkway. RESULTS: Significant group-by-time interactions were found for the first peak of vertical ground reaction force, loading rate, and peak pressure at the medial heel region (all p = 0.001-0.49, d = 0.89-1.40). Post-hoc analyses showed significant pre-post decreases for the first peak of vertical ground reaction force (p = 0.001, d = 1.27), loading rate (p = 0.009, d = 1.11), and peak pressure at the medial heel region (p = 0.021, d = 1.01). CONCLUSIONS: Our results suggest that a joyful and multimodal exercise program has positive effects on kinetic walking characteristics of autism spectrum disorder boys. Accordingly, we recommend to implement this type of exercise in prepubertal autism spectrum disorder boys to improve gait kinetics. TRIAL REGISTRATION: Iranian Registry of Clinical Trials IRCT20170806035517N4. Registered on November 8, 2021. This study was approved by the Ethical Committee of the University of Mohaghegh Ardabili, Ardabil, Iran (IR.UMA.REC.1400.019). The study was conducted in accordance with the latest version of the Declaration of Helsinki.

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13. Flanagan E, Malmqvist E, Rittner R, Gustafsson P, Källén K, Oudin A. Exposure to local, source-specific ambient air pollution during pregnancy and autism in children: a cohort study from southern Sweden. Sci Rep;2023 (Mar 8);13(1):3848.

Evidence of air pollution exposure, namely, ambient particulate matter (PM), during pregnancy and an increased risk of autism in children is growing; however, the unique PM sources that contribute to this association are currently unknown. The aim of the present study was to investigate local, source-specific ambient PM exposure during pregnancy and its associations with childhood autism, specifically, and autism spectrum disorders (ASD) as a group. A cohort of 40,245 singleton births from 2000 to 2009 in Scania, Sweden, was combined with data on locally emitted PM with an aerodynamic diameter < 2.5 µm (PM(2.5)). A flat, two-dimensional dispersion model was used to assess local PM(2.5) concentrations (all-source PM(2.5), small-scale residential heating- mainly wood burning, tailpipe exhaust, and vehicle wear-and-tear) at the mother's residential address during pregnancy. Associations were analyzed using binary logistic regression. Exposure to local PM(2.5) during pregnancy from each of the investigated sources was associated with childhood autism in the fully adjusted models. For ASD, similar, but less pronounced, associations were found. The results add to existing evidence that exposure to air pollution during pregnancy may be associated with an increased risk of childhood autism. Further, these findings suggest that locally produced emissions from both residential wood burning and road traffic-related sources (tailpipe exhaust and vehicle wear-and-tear) contribute to this association.

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14. Harrison AJ, Naqvi NC, Smit AK, Kumar PN, Muhammad NA, Saade S, Yu L, Cappe E, Low HM, Chan SJ, de Bildt A. Assessing Autism Knowledge Across the Global Landscape Using the ASK-Q. J Autism Dev Disord;2023 (Mar 9)

Substantial variability exists with regard to autism service provision around the world. Service disparities observed in many low- and middle-income countries may be driven, in part, by limited autism knowledge; however, measurement limitations have made it difficult to quantify autism knowledge across countries. The current study uses the autism stigma and knowledge questionnaire (ASK-Q) to quantify autism knowledge and stigma between different countries and demographics. The current study compiled data from 6830 participants collected using adapted versions of the ASK-Q administered in 13 different countries, representing four different continents. Structural equation modeling was used to examine how autism knowledge varied across country and individual factors. Results reveal cross country variability with a large, 17-point difference between the countries with the highest knowledge (Canada) and the lowest knowledge (Lebanon). As expected, countries with higher economies had higher levels of knowledge. We also documented differences based on country worldview, participant occupation, gender, age, and education level. These results help to identify specific regions and populations that might most need greater information about autism.

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15. Hernández Lara M, Caro K, Martínez-García AI. Technology for supporting emotion regulation of individuals with developmental disabilities: A scoping review. Res Dev Disabil;2023 (Mar 9);136:104467.

BACKGROUND: Emotional competencies are skills necessary to adequately understand, express, and regulate emotional phenomena. Among the emotional competencies is emotion regulation. Not having adequate development of this emotional competence is related to psychological problems such as depression. One of the characteristics of individuals with developmental disabilities is the presence of difficulties with emotion regulation. These difficulties can affect an individual’s autonomy, social competence, and the development of independent life. AIMS: This paper presents a scoping review to identify the technology designed and developed to support the emotion regulation of individuals with developmental disabilities. METHODS AND PROCEDURES: We combined the guidelines for a systematic literature review in computer science and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. The process resulted in twelve stages through which we conducted this scoping review. First, a search query was defined and executed in computer science’s five most representative search engines. We used different inclusion, exclusion, and quality criteria for selecting the works included in this review. OUTCOMES AND RESULTS: Thirty-nine papers aimed at supporting the emotional competencies of individuals with developmental disabilities were included, of which nine support emotion regulation. As a result, different areas of opportunity in developing technology to support the emotion regulation of individuals with developmental disabilities are discussed. CONCLUSIONS AND IMPLICATIONS: Technology supporting emotion regulation in individuals with developmental disabilities is a growing but little-explored field. For the literature supporting emotion regulation, we detected opportunities for study. Some of them aimed at investigating whether we could use technologies developed for other emotional competencies to support emotion regulation and how the characteristics of this technology can support individuals with developmental disabilities.

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16. Jiang P, Zhou L, Du Z, Zhao L, Tang Y, Fei X, Wang L, Li D, Li S, Yang H, Fan X, Liao H. Icariin alleviates autistic-like behavior, hippocampal inflammation and vGlut1 expression in adult BTBR mice. Behav Brain Res;2023 (Mar 6);445:114384.

Autism spectrum disorder (ASD) is a complicated, heterogeneous disorder characterized by social interaction deficits and repetitive stereotypical behaviors. Neuroinflammation and synaptic protein dysregulation have been implicated in ASD pathogenesis. Icariin (ICA) has proven to exert neuroprotective function through anti-inflammatory function. Therefore, this study aimed to clarify the effects of ICA treatment on autism-like behavioral deficits in BTBR mice and whether these changes were related to modifications in the hippocampal inflammation and the balance of excitatory/inhibitory synapses. ICA supplementation (80 mg/kg, once daily for ten days, i.g.) ameliorated social deficits, repetitive stereotypical behaviors, and short-term memory deficit without affecting locomotor activity or anxiety-like behaviors of BTBR mice. Furthermore, ICA treatment inhibited neuroinflammation via decreasing microglia number and the soma size in the CA1 region of the hippocampus, as well as the protein levels of proinflammatory cytokines in the hippocampus of BTBR mice. In addition, ICA treatment also rescued excitatory-inhibitory synaptic protein imbalance by inhibiting the increased vGlut1 level without affecting the vGAT level in the BTBR mouse hippocampus. Collectively, the observed results indicate that ICA treatment alleviates ASD-like features, mitigates disturbed balance of excitatory-inhibitory synaptic protein, and inhibits hippocampal inflammation in BTBR mice, and may represent a novel promising drug for ASD treatment.

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17. Kawai M, Buck C, Chick CF, Anker L, Talbot L, Schneider L, Linkovski O, Cotto I, Parker-Fong K, Phillips J, Hardan AY, Hallmayer J, O’Hara R. Sleep architecture is associated with core symptom severity in autism spectrum disorder. Sleep;2023 (Mar 9);46(3)

STUDY OBJECTIVES: While caregiver-reported sleep disturbances are common in children and adolescents with autism spectrum disorder ([‘), few studies have measured objective sleep in ASD compared to controls, and their findings are mixed. We investigated (1) differences in sleep architecture, specifically slow-wave sleep (SWS) and rapid eye movement (REM) sleep, between ASD and typically developing controls (TD); and (2) if any observed differences in sleep were associated with core ASD symptoms. METHODS: We used ambulatory polysomnography (PSG) in 53 participants with ASD (ages 4-18) and 66 age-matched TD in their home sleeping environment. The primary outcome measures were SWS and REM sleep. Core behavioral ASD symptoms were assessed using the Autism Diagnostic Interview-Revised (ADI-R). Spectral power bands during sleep, and additional behavioral measures, were examined in exploratory analyses. RESULTS: Compared to TD, participants with ASD exhibited a higher SWS ratio and lower REM sleep ratio. Within the ASD group, higher SWS was associated with more severe symptoms on the Restricted, Repetitive, and Stereotyped Behaviors subscale of the ADI-R. No association was observed between REM sleep ratio and any ASD symptom. CONCLUSIONS: Increased SWS and reduced REM sleep ratio differentiated ASD from TD. However, only increased SWS was associated with more severe core ASD symptoms. Increased SWS may reflect neuronal immaturity specific to ASD in this age group. These findings may inform the underlying mechanisms of clinical symptoms observed in children and adolescents with ASD.

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18. Ledoux N, Gauthier-Naud W, Lavoie O, Watters V, Hussein S, Adjibade P, Mazroui R. The nuclear isoforms of the Fragile X Mental Retardation RNA-binding Protein associate with genomic DNA bridges. Mol Biol Cell;2023 (Mar 8):mbcE22050157.

The Fragile X Mental Retardation Protein (FMRP) is a canonical RNA-binding protein whose absence in humans leads to the development of the Fragile X Syndrome characterized by multiple phenotypes including neurodevelopmental disorders, intellectual disability, autism, and macroorchidism. The primary transcripts of the FMR1 gene undergo extensive alternative splicing processes, and multiple protein isoforms are produced. The predominantly cytoplasmic isoforms are translational regulators, while the roles of the nuclear ones have been neglected. In this study, we discovered that nuclear FMRP isoforms specifically associate with DNA bridges, aberrant genomic structures that form during mitosis and whose accumulation can drive genome instability by inducing DNA damage. Further localisation studies showed that a subset of FMRP-positive bridges contain proteins that have been shown to associate with specific DNA bridges known as ultrafine DNA bridges (UFBs), and surprisingly are RNA positive. Significantly, the depletion of nuclear FMRP isoforms promotes the accumulation of DNA bridges, correlating with the accumulation of DNA damages and cell death, unveiling an important function of these neglected isoforms.

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19. Lee J, Sone B, Rooney T, Roberts MY. The Role of Naturalistic Developmental Behavioral Interventions in Early Intervention for Autistic Toddlers: An Observational Study. Am J Speech Lang Pathol;2023 (Mar 9);32(2):439-451.

PURPOSE: Naturalistic developmental behavioral interventions (NDBIs) have demonstrated initial promise in facilitating social communication development for autistic toddlers, but their highly structured protocols may be a barrier toward their use by early intervention (EI) providers who must individualize intervention according to family-centered principles. This study aimed to characterize the extent to which EI speech-language pathologists (SLPs) use NDBI strategies, and the range of skills and behaviors addressed during their EI sessions, to contextualize the role of NDBIs within the scope of needs of families with autistic children in EI. METHOD: This observational study included 25 families with an autistic toddler and their EI SLP. One home-based session was recorded for each family, and an observational measure was used to describe SLPs’ NDBI strategy use. Qualitative content analyses were also used to characterize the strategies SLPs recommended to families, and the child skills and behaviors they discussed. RESULTS: SLPs did not implement NDBI strategies with high quality, but they implemented developmental NDBI strategies with significantly higher quality than behavioral NDBI strategies. SLPs discussed many strategies and skills across disciplines within the session. CONCLUSIONS: SLPs may require further training to implement NDBI strategies, but given the breadth and depth of skills addressed during sessions, researchers should investigate and report on the impact of NDBIs on a wider range of communication skills and developmental domains. This will facilitate clinical decision making and make these interventions better aligned with family-centered EI principles. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21834480.

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20. Liao X, Chen M, Li Y. The glial perspective of autism spectrum disorder convergent evidence from postmortem brain and PET studies. Front Neuroendocrinol;2023 (Mar 6):101064.

OBJECTIVE: The present study aimed to systematically and quantitatively review evidence derived from both postmortem brain and PET studies to explore the pathological role of glia induced neuroinflammation in the pathogenesis of ASD, and discuss the implications of these findings in relation to disease pathogenesis and therapeutic strategies. METHOD: An online databases search was performed to collate postmortem studies and PET studies regarding glia induced neuroinflammation in ASD as compared to controls. Two authors independently conducted the literature search, study selection and data extraction. The discrepancies generated in these processes was resolved through robust discussions among all authors. RESULT: The literature search yielded the identification of 619 records, from which 22 postmortem studies and 3 PET studies were identified as eligible for the qualitative synthesis. Meta-analysis of postmortem studies reported increased microglial number and microglia density as well as increased GFAP protein expression and GFAP mRNA expression in ASD subjects as compared to controls. Three PET studies produced different outcomes and emphasized different details, with one reported increased and two reported decreased TSPO expression in ASD subjects as compared to controls. CONCLUSION: Both postmortem evidences and PET studies converged to support the involvement of glia induced neuroinflammation in the pathogenesis of ASD. The limited number of included studies along with the considerable heterogeneity of these studies prevented the development of firm conclusions and challenged the explanation of variability. Future research should prioritize the replication of current studies and the validation of current observations.

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21. McIntyre LL, Santiago RT, Sutherland M, Garbacz SA. Parenting stress and autistic children’s emotional problems relate to family-school partnerships and parent mental health. Sch Psychol;2023 (Mar 9)

Dimensions of family-school partnerships, including parent-teacher relationship quality and family educational involvement, are associated with positive outcomes for youth. Family-school partnerships are important for autistic youth, who may particularly benefit from cross-setting supports. Coordinated family-school partnerships may help maximize child outcomes. This study investigated the extent to which child behavioral and physical health (emotional, behavioral, and medical problems) and parent mental health (parenting stress, parent mental health history, and parent depressive symptoms) were associated with parent-teacher relationship quality and family involvement in a sample of 68 families of school-aged autistic children. Families were recruited through invitation letters disseminated at local early intervention and early childhood programs. Children in the sample were primarily boys, primarily White, and approximately 8 years old. Results suggest that (a) child emotional problems and parenting stress were negatively associated with parent-teacher relationship quality (large effects) and (b) parent history of mental health problems was negatively associated with family involvement (large effect). Intervention recommendations and future research directions are discussed. For example, it would be helpful for future research to include the perspectives of ethnically diverse samples when examining family-school partnerships among families with autistic children. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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22. Okada M, Nagayama Y, Saiki H, Ito K, Yatsuga S, Nagamitsu S. Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder. BMC Nutr;2023 (Mar 8);9(1):41.

BACKGROUND: There have been reports of isolated trace elements or vitamin deficiencies due to imbalanced diets, but no cases of selenium deficiency combined with scurvy have been reported. CASE PRESENTATION: A 7 year-old boy diagnosed with autistic spectrum disorder and mild psychomotor retardation, started an imbalanced diet including specific snacks and lacto-fermenting drinks from 5 years of age. Gingival hemorrhage and perioral erosions occurred at 6 years and 8 months of age, and he was referred to our hospital at 7 years of age. Slight tachycardia was found. Serum vitamin C level was 1.1 µg/dL (reference range (rr): 5-17.5 µg/dL), and selenium level was 2.8 µg/dL (rr: 7.7-14.8 µg/dL). He was diagnosed with both selenium deficiency and scurvy. Multivitamins and sodium selenate were administered for 12 days during admission, and symptoms of selenium deficiency and scurvy improved. After discharge, symptoms abated following the administration of multivitamins and regular administration of sodium selenate every 3 months. CONCLUSIONS: We report a complicated case of both selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks in a 7-year-old boy with autism spectrum disorder. In patients with imbalanced diet, regular blood tests including trace elements and vitamins are necessary.

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23. Yakubova, II, Tsypan S, Zhdanova T, Potapenko O, Viun G. PREVALENCE OF GINGIVITIS IN CHILDREN WITH AUTISM SPECTRUM DISORDERS (ASD). Wiad Lek;2023;76(1):84-89.

OBJECTIVE: The aim: To evaluate and compare the prevalence of gingivitis according to the PMA index in children aged 5 to 6 years in preschool with ASD and without disorders (Kyiv, Ukraine). PATIENTS AND METHODS: Materials and methods: Oral assessment was conduct on 69 children with ASD and 23 children without ASD aged 5 to 6 years. To determine the periodontal status it was used the papillary-marginal-alveolar index – PMA (according to Schour, Massler, in the modification of Parma). RESULTS: Results: Children with ASD (18.84%) were 3.7 times less likely to have a clinically healthy periodontium than children without disorders (69.57%). The average PMA index among the main group was 6.8 times higher (15.31 ± 1.49%) than in the control group (2.25. ± 0.73%), but this difference was not statistically confirmed (p> 0.05). The most common pathology of periodontal tissues was chronic catarrhal gingivitis. 49.28% of children in main group with ASD had mild catarrhal gingivitis, while just 30.47% of children in control group without ASD had this pathology. Catarrhal moderate gingivitis was diagnosed in 31.88% of children from main group, symptoms of moderate gingivitis were not detected in the control group without disorders. CONCLUSION: Conclusions: ASD children 5-6 years old may have major risk of developing such periodontal lesions as mild and moderate gingivitis. Further investigations need to be done to clarify prevalence of other oral pathologies in ASD individuals to understand the effect of the disorder on oral health.

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24. Yao PY, Iao LS, Wu CC. Language development trajectories in young children with developmental disabilities in Taiwan. Res Dev Disabil;2023 (Mar 6);136:104470.

BACKGROUND: Language development is critical to various outcomes in young children with developmental disabilities (DD), including autism spectrum disorder (ASD) and non-ASD delays. However, language development trajectories in young children with DD in non-Western populations remain unclear. AIMS: To investigate the language development trajectories of young children with DD in Taiwan. We investigated the relationship between trajectory class assignment and diagnostic outcomes (ASD or non-ASD delays) at 3 years after enrollment in the study and the differences in early abilities among children in different trajectory classes. METHODS AND PROCEDURES: The participants were 101 young children with DD (mean age: 21.88 months; follow-up: 1.5 and 3 years after enrollment). Growth mixture modeling analyses were conducted to receptive language developmental quotients (RLDQ) and expressive language developmental quotients (ELDQ) on the basis of the Mullen Scales of Early Learning. OUTCOMES AND RESULTS: Three RLDQ trajectories were identified, namely age expected, delayed catch-up, and delayed, and two ELDQ trajectories were identified, namely delayed improve and delayed. Trajectory class assignment was related to diagnostic outcomes. Children who demonstrated more proficient skills at the early time point, demonstrated improved language outcomes 3 years later. However, adaptive functioning did not differ between the two ELDQ trajectory classes. CONCLUSIONS AND IMPLICATIONS: Language development in young children with DD in Taiwan is heterogeneous. Delayed receptive and expressive language development trajectories relate to later ASD diagnoses.

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