1. Beadle-Brown J, Šiška J, Káňová Š. Mapping frameworks and approaches to measuring the quality of transition support services for young people with intellectual and developmental disabilities. Front Rehabil Sci;2023;4:1043564.

Transition to adulthood for young people with intellectual disabilities and developmental disabilities (IDD) has been given significant attention in research, policy development and practice. The aim of this paper was to explore how a recently developed theoretical outcomes-based framework for measuring the quality of services for people with disabilities could potentially be useful in conceptualizing and supporting successful transition to adulthood. The theoretical discussion draws on both the scoping review and template analysis that was used to develop the Service Quality Framework and on a separate study synthesizing expert completed country templates and literature review which included models of and research on successful transition to adulthood. Synthesis identified that using a quality of life outcomes focused framework of Service Quality could be mapped onto and extend current thinking on what is seen as successful transition to adulthood by putting the focus on successful transition as people with IDD moving towards having similar opportunities and quality of life as other adults without disabilities living in the same community/society. Implications of a more wide-ranging definition and holistic view for both practice and future research are discussed.

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2. Berloco B, Guerrera S, Fucà E, Menghini D, Valeri G, Nobili L, Vicari S. Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress. J Autism Dev Disord;2023 (Mar 11)

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3. Betts KS, Chai K, Kisely S, Alati R. Development and validation of a machine learning-based tool to predict autism among children. Autism Res;2023 (Mar 10)

Autism is a lifelong condition for which intervention must occur as early as possible to improve social functioning. Thus, there is great interest in improving our ability to diagnose autism as early as possible. We take a novel approach to this challenge by combining machine learning with maternal and infant health administrative data to construct a prediction model capable of predicting autism disorder (defined as ICD10 84.0) in the general population. The sample included all mother-offspring pairs from the Australian state of New South Wales (NSW) between January 2003 and December 2005 (n = 262,650 offspring), linked across three health administrative data sets including the NSW perinatal data collection (PDC); the NSW admitted patient data collection (APDC) and the NSW mental health ambulatory data collection (MHADC). Our most successful model was able to predict autism disorder with an area under the receiver operating curve of 0.73, with the strongest risk factors for diagnoses found to include offspring gender, maternal age at birth, delivery analgesia, maternal prenatal tobacco disorders, and low 5-min APGAR score. Our findings indicate that the combination of machine learning and routinely collected admin data, with further refinement and increased accuracy than achieved by us, may play a role in the early detection of autism disorders.

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4. 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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5. 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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6. Davidson D, Russo-Ponsaran N, van Rest MM, Scarpa A. Editorial: Emotion processing in autism spectrum disorders. Front Psychol;2023;14:1141824.

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7. De Froy A, Rollins PR. The cross-racial/ethnic gesture production of young autistic children and their parents. Autism Dev Lang Impair;2023 (Jan-Dec);8:23969415231159548.

BACKGROUND & AIMS: Early gesture plays an important role in prelinguistic/emerging linguistic communication and may provide insight into a child’s social communication skills before the emergence of spoken language. Social interactionist theories suggest children learn to gesture through daily interactions with their social environment (e.g., their parents). As such, it is important to understand how parents gesture within interactions with their children when studying child gesture. Parents of typically developing (TD) children exhibit cross-racial/ethnic differences in gesture rate. Correlations between parent and child gesture rates arise prior to the first birthday, although TD children at this developmental level do not yet consistently exhibit the same cross-racial/ethnic differences as their parents. While these relationships have been explored in TD children, less is known about the gesture production of young autistic children and their parents. Further, studies of autistic children have historically been conducted with predominantly White, English-speaking participants. As a result, there is little data regarding the gesture production of young autistic children and their parents from diverse racial/ethnic backgrounds. In the present study, we examined the gesture rates of racially/ethnically diverse autistic children and their parents. Specifically, we explored (1) cross-racial/ethnic differences in the gesture rate of parents of autistic children, (2) the correlation between parent and child gesture rates, and (3) cross-racial/ethnic differences in the gesture rates of autistic children. METHODS: Participants were 77 racially/ethnically diverse cognitively and linguistically impaired autistic children (age 18 to 57 months) and a parent who participated in one of two larger intervention studies. Naturalistic parent-child and structured clinician-child interactions were video recorded at baseline. Parent and child gesture rate (number of gestures produced per 10 min) were extracted from these recordings. RESULTS: (1) Parents exhibited cross-racial/ethnic differences in gesture rate such that Hispanic parents gestured more frequently than Black/African American parents, replicating previous findings in parents of TD children. Further, South Asian parents gestured more than Black/African American parents. (2) The gesture rate of autistic children was not correlated with parent gesture, a finding that differs from TD children of a similar developmental level. (3) Autistic children did not exhibit the same cross-racial/ethnic differences in gesture rate as their parents, a result consistent with findings from TD children. CONCLUSIONS: Parents of autistic children-like parents of TD children-exhibit cross-racial/ethnic differences in gesture rate. However, parent and child gesture rates were not related in the present study. Thus, while parents of autistic children from different ethnic/racial backgrounds appear to be conveying differences in gestural communication to their children, these differences are not yet evident in child gesture. IMPLICATIONS: Our findings enhance our understanding of the early gesture production of racially/ethnically diverse autistic children in the prelinguistic/emerging linguistic stage of development, as well as the role of parent gesture. More research is needed with developmentally more advanced autistic children, as these relationships may change with development.

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8. Elamin M, Dumarchey A, Stoddard C, Robinson TM, Cowie C, Gorka D, Chamberlain SJ, Levine ES. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. Stem Cell Reports;2023 (Feb 20)

Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder caused by maternal duplications of this region. Autism and epilepsy are key features of Dup15q. UBE3A, which encodes an E3 ubiquitin ligase, is likely a major driver of Dup15q because UBE3A is the only imprinted gene expressed solely from the maternal allele. Nevertheless, the exact role of UBE3A has not been determined. To establish whether UBE3A overexpression is required for Dup15q neuronal deficits, we generated an isogenic control line for a Dup15q patient-derived induced pluripotent stem cell line. Dup15q neurons exhibited hyperexcitability compared with control neurons, and this phenotype was generally prevented by normalizing UBE3A levels using antisense oligonucleotides. Overexpression of UBE3A resulted in a profile similar to that of Dup15q neurons except for synaptic phenotypes. These results indicate that UBE3A overexpression is necessary for most Dup15q cellular phenotypes but also suggest a role for other genes in the duplicated region.

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9. Forbes AS, Yun J. Visual Supports for Children With Autism in Physical Activity. Adapt Phys Activ Q;2023 (Jan 1):1-26.

Visual supports have been advocated as one strategy to teach children with autism in physical education. However, empirical studies documented inconsistencies in their effectiveness, with some demonstrating positive effects while others reported limited support for their use. Without a clear synthesis of information, physical educators may have difficulties in identifying and meaningfully utilizing visual supports. A systematic literature review on visual supports was conducted with synthesized current literature for physical educators to make informed decisions regarding their use for children with autism in physical education. A total of 27 articles were reviewed, which included empirical- and narrative-based manuscripts. Results suggest that picture task cards, visual activity schedules, and video prompting can be potential strategies that physical educators can use to teach motor skills to children on the spectrum. However, video modeling may need to be further investigated to fully understand how to use it in the context of physical education.

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10. Gesundheit B, Zisman PD, Hochbaum L, Posen Y, Steinberg A, Friedman G, Ravkin HD, Rubin E, Faktor O, Ellis R. Autism spectrum disorder diagnosis using a new panel of immune- and inflammatory-related serum biomarkers: A case-control multicenter study. Front Pediatr;2023;11:967954.

BACKGROUND AND OBJECTIVES: Children with autism spectrum disorder (ASD) present with distinctive clinical features. No objective laboratory assay has been developed to establish a diagnosis of ASD. Considering the known immunological associations with ASD, immunological biomarkers might enable ASD diagnosis and intervention at an early age when the immature brain has the highest degree of plasticity. This work aimed to identify diagnostic biomarkers discriminating between children with ASD and typically developing (TD) children. METHODS: A multicenter, diagnostic case-control study trial was conducted in Israel and Canada between 2014 and 2021. In this trial, a single blood sample was collected from 102 children with ASD as defined in Diagnostic Statistical Manual of Mental Disorders [DSM)-IV (299.00) or DSM-V (299.00)], and from 97 typically developing control children aged 3-12 years. Samples were analyzed using a high-throughput, multiplexed ELISA array which quantifies 1,000 human immune/inflammatory-related proteins. Multiple logistic regression analysis was used to obtain a predictor from these results using 10-fold cross validation. RESULTS: Twelve biomarkers were identified that provided an overall accuracy of 0.82 ± 0.09 (sensitivity: 0.87 ± 0.08; specificity: 0.77 ± 0.14) in diagnosing ASD with a threshold of 0.5. The resulting model had an area under the curve of 0.86 ± 0.06 (95% CI: 0.811-0.889). Of the 102 ASD children included in the study, 13% were negative for this signature. Most of the markers included in all models have been reported to be associated with ASD and/or autoimmune diseases. CONCLUSION: The identified biomarkers may serve as the basis of an objective assay for early and accurate diagnosis of ASD. In addition, the markers may shed light on ASD etiology and pathogenesis. It should be noted that this was only a pilot, case-control diagnostic study, with a high risk of bias. The findings should be validated in larger prospective cohorts of consecutive children suspected of ASD.

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11. Kacimi FE, Ed-Day S, Didou L, Azzaoui FZ, Ramchoun M, Arfaoui A, Boulbaroud S. Narrative Review: The Effect of Vitamin A Deficiency on Gut Microbiota and Their Link with Autism Spectrum Disorder. J Diet Suppl;2023 (Mar 11):1-19.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders defined by a lack of social behaviors, repetitive behaviors and nonverbal interactions, such as limited eye contact, facial expression, and body gesturing. It is not a single condition, but rather a multi-factorial disorder caused by hereditary and non-genetic risk factors, as well as their interaction. According to several studies, the gut microbiota may have a role in the pathophysiology of autism spectrum disorder. Various studies have found differences in the composition of the gastrointestinal (GI) microbiota in children with ASD compared to unaffected siblings and/or healthy unrelated controls. The processes that relate the gut microbiota to brain dysfunctions (the gut-brain axis) in ASD are yet to be fully understood. However, the differences in the gastrointestinal composition might be due to vitamin A deficiency because vitamin A (VA) plays a role in the regulation of the intestinal microbiota. This narrative review discusses the impact of vitamin A deficiency on the gut microbiota composition and tries to understand how this may contribute for the development and severity of ASD.

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12. Kim HS, Lee CE, Kim KM. Challenges of single parents raising children with intellectual and developmental disabilities. J Appl Res Intellect Disabil;2023 (Mar 10)

BACKGROUND: Single-parent families with children with disabilities need greater attention given the notable increase in their number and their additional difficulties. Single parents in East Asian countries, especially, may face greater risks than their peers elsewhere, given the region’s unique cultural background. METHOD: The study used a mixed methods design; we administered a risk assessment survey to 354 families of children with intellectual and developmental disabilities and conducted in-depth interviews with eight single parents. RESULTS: Compared to two-parent families, single-parent families faced greater risks with respect to family relationships, economic status and legal rights. In the interviews, single parents reported a range of challenges, including sole parental responsibilities, poor physical and mental health, social isolation and alienation, the stress of juggling care and work, and difficulty accessing services. CONCLUSION: These findings offer implications for future policy and practices concerning single parents in South Korea.

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13. Liu S, Tang F, Dou H, Zhang W. The relationship between autistic traits and empathy in adolescents: An ERP study. Neurosci Lett;2023 (Mar 8);802:137173.

Based on the mind-blindness hypothesis, a large number of studies have shown that individuals with autism-spectrum disorder (ASD) and autistic traits have empathy deficits. However, the recent double empathy theory contradicts the mind-blindness hypothesis and suggests that individuals with ASD and autistic traits do not necessarily lack empathy. Thus, the presence of empathy deficits in individuals with ASD and autistic traits is still controversial. We recruited 56 adolescents (28 high autistic traits, 28 low autistic traits, 14-17 years old) in this study to explore the relationship between empathy and autistic traits. The study participants were required to undertake the pain empathy task, during which the electroencephalograph (EEG) activities were recorded. Our results show that empathy was negatively associated with autistic traits at the questionnaire, behavioral, and EEG levels. Our results also suggested that empathy deficits in adolescents with autistic traits may be manifested mainly in the late stages of cognitive control processing.

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14. Rodriquez J, Gupta A, Ballard SC, Siperstein GN. Positive identity development through community engagement among youth with intellectual and developmental disabilities. J Appl Res Intellect Disabil;2023 (Mar 10)

BACKGROUND: Identity development in individuals with disabilities is often negatively impacted by exclusion, marginalisation, and stigma. However, meaningful opportunities for community engagement can serve as one pathway towards establishing positive identity. This pathway is further examined in the present study. METHODS: Researchers used a tiered, multi-method, qualitative methodology consisting of audio diaries, group interviews, and individual interviews with seven youth (ages 16-20) with intellectual and developmental disabilities, recruited through the Special Olympics U.S. Youth Ambassador Program. RESULTS: Participants’ identities incorporated disability while simultaneously transcending the social limits of disability. Participants viewed disability as one aspect of their broader identity, shaped by leadership and engagement experiences such as those offered by the Youth Ambassador Program. CONCLUSIONS: Findings have implications for understanding identity development in youth with disabilities, the importance of community engagement and structured leadership opportunities, and the value of tailoring qualitative methodologies to the subject of the research.

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15. Soker-Elimaliah S, Lehrfield A, Scarano SR, Wagner JB. Associations between the pupil light reflex and the broader autism phenotype in children and adults. Front Hum Neurosci;2022;16:1052604.

The pupil light reflex (PLR), a marker of neuronal response to light, is a well-studied index of autonomic functioning. Studies have found that autistic children and adults have slower and weaker PLR responses compared to non-autistic peers, suggesting lower autonomic control. Altered autonomic control has also been associated with increased sensory difficulties in autistic children. With autistic traits varying in the general population, recent studies have begun to examine similar questions in non-autistic individuals. The current study looked at the PLR in relation to individual differences in autistic traits in non-autistic children and adults, asking how differences in the PLR could lead to variation in autistic traits, and how this might change across development. Children and adults completed a PLR task as a measure of sensitivity to light and autonomic response. Results showed that, in adults, increased levels of restricted and repetitive behaviors (RRB) were associated with a weaker and slower PLR. However, in children, PLR responses were not associated with autistic traits. Differences in PLR were also found across age groups, with adults showing smaller baseline pupil diameter and stronger PLR constriction as compared with children. The current study expanded on past work to examine the PLR and autistic traits in non-autistic children and adults, and the relevance of these findings to sensory processing difficulties is discussed. Future studies should continue to examine the neural pathways that might underlie the links between sensory processing and challenging behaviors.

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16. Suresh A, Dunaevsky A. Impaired AMPARs translocation into dendritic spines with motor skill learning in the Fragile X mouse model. eNeuro;2023 (Mar 10)

Motor skill learning induces changes in synaptic structure and function in the primary motor cortex. In the Fragile X Syndrome (FXS) mouse model an impairment in motor skill learning and associated formation of new dendritic spines was previously reported. However, whether modulation of synaptic strength through trafficking of AMPA receptors with motor skill training is impaired in FXS is not known. Here we performed in vivo imaging of a tagged AMPA receptor subunit, GluA2, in layer (L) 2/3 neurons in the primary motor cortex of wild type and Fmr1 KO male mice at different stages of learning a single forelimb-reaching task. Surprisingly, in the Fmr1 KO mice, despite impairments in learning there was no deficit in motor skill training-induced spine formation. However, the gradual accumulation of GluA2 in WT stable spines, which persists after training is completed and past the phase of spine number normalization, is absent in the Fmr1 KO mouse. These results demonstrate that motor skill learning not only reorganizes circuits through formation of new synapses, but also strengthens existing synapses through accumulation of AMPA receptors and GluA2 changes are better associated with learning than new spine formation.Significance StatementThis study identifies a significant synaptic defect associated with a behavioral impairment relevant to the pathology of Fragile X syndrome (FXS). Using in vivo imaging of a tagged AMPA-type receptor subunit GluA2, we found that the motor-skill training-induced accumulation of GluA2 in dendritic spines that occurs in control mice is impaired in the Fmr1 knock out (KO) mouse. This study identifies a synaptic correlate of impaired motor skill learning in the Fmr1 KO mouse.

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17. Weiner KS, Willbrand EH. Is there an association between tuber involvement of the fusiform face area in autism diagnosis?. Ann Neurol;2023 (Mar 10)

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18. Xiao Y, Wen TH, Kupis L, Eyler LT, Taluja V, Troxel J, Goel D, Lombardo MV, Pierce K, Courchesne E. Atypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD. Mol Autism;2023 (Mar 10);14(1):11.

BACKGROUND: Social and language abilities are closely intertwined during early typical development. In autism spectrum disorder (ASD), however, deficits in social and language development are early-age core symptoms. We previously reported that superior temporal cortex, a well-established social and language region, shows reduced activation to social affective speech in ASD toddlers; however, the atypical cortical connectivity that accompanies this deviance remains unknown. METHODS: We collected clinical, eye tracking, and resting-state fMRI data from 86 ASD and non-ASD subjects (mean age 2.3 ± 0.7 years). Functional connectivity of left and right superior temporal regions with other cortical regions and correlations between this connectivity and each child’s social and language abilities were examined. RESULTS: While there was no group difference in functional connectivity, the connectivity between superior temporal cortex and frontal and parietal regions was significantly correlated with language, communication, and social abilities in non-ASD subjects, but these effects were absent in ASD subjects. Instead, ASD subjects, regardless of different social or nonsocial visual preferences, showed atypical correlations between temporal-visual region connectivity and communication ability (r(49) = 0.55, p < 0.001) and between temporal-precuneus connectivity and expressive language ability (r(49) = 0.58, p < 0.001). LIMITATIONS: The distinct connectivity-behavior correlation patterns may be related to different developmental stages in ASD and non-ASD subjects. The use of a prior 2-year-old template for spatial normalization may not be optimal for a few subjects beyond this age range. CONCLUSIONS: Superior temporal cortex is known to have reduced activation to social affective speech in ASD at early ages, and here we find in ASD toddlers that it also has atypical connectivity with visual and precuneus cortices that is correlated with communication and language ability, a pattern not seen in non-ASD toddlers. This atypicality may be an early-age signature of ASD that also explains why the disorder has deviant early language and social development. Given that these atypical connectivity patterns are also present in older individuals with ASD, we conclude these atypical connectivity patterns persist across age and may explain why successful interventions targeting language and social skills at all ages in ASD are so difficult to achieve.

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19. Zhang H, Tang X, Feng C, Gao Y, Qi H, Junzhang, Zhang X, Zheng Q, Lin J, Liu X, Shen L. The use of data independent acquisition based proteomic analysis and machine learning to reveal potential biomarkers for autism spectrum disorder. J Proteomics;2023 (Mar 8):104872.

Autism spectrum disorder (ASD) is a complex neurological developmental disorder in children, and is associated with social isolation and restricted interests. The etiology of this disorder is still unknown. There is neither any confirmed laboratory test nor any effective therapeutic strategy to diagnose or cure it. We performed data independent acquisition (DIA) and multiple reaction monitoring (MRM) analysis of plasma from children with ASD and controls. The result showed that 45 differentially expressed proteins (DEPs) were identified between autistic subjects and controls. Among these, only one DEP was down-regulated in ASD; other DEPs were up-regulated in ASD children’s plasma. These proteins are found associated with complement and coagulation cascades, vitamin digestion and absorption, cholesterol metabolism, platelet degranulation, selenium micronutrient network, extracellular matrix organization and inflammatory pathway, which have been reported to be related to ASD. After MRM verification, five key proteins in complement pathway (PLG, SERPINC1, and A2M) and inflammatory pathway (CD5L, ATRN, SERPINC1, and A2M) were confirmed to be significantly up-regulated in ASD group. Through the screening of machine learning model and MRM verification, we found that two proteins (biotinidase and carbonic anhydrase 1) can be used as early diagnostic markers of ASD (AUC = 0.8, p = 0.0001). SIGNIFICANCE: ASD is the fastest growing neurodevelopmental disorder in the world and has become a major public health problem worldwide. Its prevalence has been steadily increasing, with a global prevalence rate of 1%. Early diagnosis and intervention can achieve better prognosis. In this study, data independent acquisition (DIA) and multiple reaction monitoring (MRM) analysis was applied to analyze the plasma proteome of ASD patients (31 (±5) months old), and 378 proteins were quantified. 45 differentially expressed proteins (DEPs) were identified between the ASD group and the control group. They mainly were associated with platelet degranulation, ECM proteoglycar, complement and coagulation cascades, selenium micronutrient network, regulation of insulin-like growth factor (IGF) transport and uptake by insulin-like growth factor binding proteins (IGFBPs), cholesterol metabolism, vitamin metabolism, and inflammatory pathway. Through the integrated machine learning methods and the MRM verification of independent samples, it is considered that biotinidase and carbon anhydrase 1 have the potential to become biomarkers for the early diagnosis of ASD. These results complement proteomics database of the ASD patients, broaden our understanding of ASD, and provide a panel of biomarkers for the early diagnosis of ASD.

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