1. Bowri M, Hull L, Allison C, Smith P, Baron-Cohen S, Lai MC, Mandy W. Demographic and psychological predictors of alcohol use and misuse in autistic adults. Autism : the international journal of research and practice. 2021; 25(5): 1469-80.

Alcohol use and misuse are associated with a variety of negative physical, psychological and social consequences. The limited existing research on substance use including alcohol use in autistic adults has yielded mixed findings, with some studies concluding that autism reduces the likelihood of substance use and others suggesting that autism may increase an individual’s risk for substance misuse. This study investigated demographic and psychological predictors of alcohol use and misuse in a sample of 237 autistic adults. An online survey was used to obtain data on demographic information, autistic traits, depression, generalised anxiety, social anxiety, mental well-being, social camouflaging and alcohol use. The sample was divided into three groups (non-drinkers, non-hazardous drinkers and hazardous drinkers) in order to investigate associations between alcohol use and demographic factors, autistic traits, mental health variables and social camouflaging. Our results demonstrated a U-shaped pattern among autistic adults, with non-drinkers and hazardous drinkers scoring higher than non-hazardous drinkers on levels of autistic traits, depression, generalised anxiety and social anxiety. Autistic non-drinkers were less likely to be male and had more autistic traits. Gender and level of autistic traits may be the most significant factors in predicting alcohol use in the autistic community.

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2. Brown HM, Stahmer AC, Dwyer P, Rivera S. Changing the story: How diagnosticians can support a neurodiversity perspective from the start. Autism : the international journal of research and practice. 2021; 25(5): 1171-4.

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3. Dean M, Chang YC. A systematic review of school-based social skills interventions and observed social outcomes for students with autism spectrum disorder in inclusive settings. Autism : the international journal of research and practice. 2021; 25(7): 1828-43.

Most social skills interventions for students with autism spectrum disorder have been conducted in clinic-based settings. While students with autism spectrum disorder are able to acquire new skills, the generalization of these skills to authentic social environments, like school, is more difficult. To address this issue, there is an increase in research examining the implementation of social skills interventions for students with autism spectrum disorder who are educated in inclusive school settings. This review included 18 research studies that focused on school-based social interventions for students with autism spectrum disorder who were educated in inclusive school settings. Typically developing peers also participated in the interventions to varying degrees. Secondary aims explored naturalistic observation instruments and subsequent social outcomes used to record the social behaviors of students with autism spectrum disorder at school. Social intervention components varied across studies, but all studies reported improvement in the targeted social behaviors of students with autism spectrum disorder. There were many similarities in the ways in which researchers measured and defined social outcomes. Observation protocols were able to measure change in the social behaviors of students with autism spectrum disorder across a wide age range. The recognition of evidence-based practices used in school-based social skills interventions, as well as the identification of observation protocols and salient social outcomes, provides a starting point for school practitioners to consider as they move to implement social skills interventions for students with autism spectrum disorder into inclusive school settings.

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4. Feigin H, Shalom-Sperber S, Zachor DA, Zaidel A. Increased influence of prior choices on perceptual decisions in autism. eLife. 2021; 10.

Autism spectrum disorder (ASD) manifests sensory and perceptual atypicalities. Recent theories suggest that these may reflect a reduced influence of prior information in ASD. Some studies have found reduced adaptation to recent sensory stimuli in ASD. However, the effects of prior stimuli and prior perceptual choices can counteract one-another. Here, we investigated this using two different tasks (in two different cohorts): (i) visual location discrimination and (ii) multisensory (visual-vestibular) heading discrimination. We fit the data using a logistic regression model to dissociate the specific effects of prior stimuli and prior choices. In both tasks, perceptual decisions were biased toward recent choices. Notably, the ‘attractive’ effect of prior choices was significantly larger in ASD (in both tasks and cohorts), while there was no difference in the influence of prior stimuli. These results challenge theories of reduced priors in ASD, and rather suggest an increased consistency bias for perceptual decisions in ASD.

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5. Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N. Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics. 2022; 67(1): 1-7.

Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause neurodevelopmental delay of varying severity, and often accompanied by dysmorphic features, seizures, hypotonia, and ataxia. To date, 28 affected individuals with CLTC variants have been reported, although their phenotypes have not been fully elucidated. Here, we report three novel de novo CLTC (NM_001288653.1) variants in three individuals with previously unreported clinical symptoms: c.3662_3664del:p.(Leu1221del) in individual 1, c.2878T>C:p.(Trp960Arg) in individual 2, and c.2430+1G>T:p.(Glu769_Lys810del) in individual 3. Consistent with previous reports, individuals with missense or small in-frame variants were more severely affected. Unreported symptoms included a brain defect (cystic lesions along the lateral ventricles of the brain in individuals 1 and 3), kidney findings (high-echogenic kidneys in individual 1 and agenesis of the left kidney and right vesicoureteral reflux in individual 3), respiratory abnormality (recurrent pneumonia in individual 1), and abnormal hematological findings (anemia in individual 1 and pancytopenia in individual 3). Of note, individual 1 even exhibited prenatal abnormality (fetal growth restriction, cystic brain lesions, high-echogenic kidneys, and a heart defect), suggesting that CLTC variants should be considered when abnormal prenatal findings in multiple organs are detected.

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6. Janusz JA, Klein-Tasman BP, Payne JM, Wolters PL, Thompson HL, Martin S, de Blank P, Ullrich N, Del Castillo A, Hussey M, Hardy KK, Haebich K, Rosser T, Toledo-Tamula MA, Walsh KS. Recommendations for Social Skills End Points for Clinical Trials in Neurofibromatosis Type 1. Neurology. 2021; 97(7 Suppl 1): S73-s80.

OBJECTIVE: To review parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of social deficit in children and adolescents (ages 6-18 years) with neurofibromatosis type 1 (NF1). METHODS: Searches were conducted via PubMed and ClinicalTrials.gov to identity social skills outcome measures with English language versions used in clinical trials in the past 5 years with populations with known social skills deficits, including attention-deficit/hyperactivity disorder and autism spectrum disorder (ASD). Measures were rated by the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Neurocognitive Committee on patient characteristics, use in published studies, domains assessed, availability of standard scores, psychometric properties, and feasibility to determine their appropriateness for use in NF1 clinical trials. RESULTS: Two measures were ultimately recommended by the committee: the Social Responsiveness Scale-2 (SRS-2) and the Social Skills Improvement System-Rating Scale (SSIS-RS). CONCLUSIONS: Each of the 2 measures assesses different aspects of social functioning. The SSIS-RS is appropriate for studies focused on broader social functioning; the SRS-2 is best for studies targeting problematic social behaviors associated with ASD. Researchers will need to consider the goals of their study when choosing a measure, and specific recommendations for their use are provided.

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7. Nankervis K, Chan J. Applying the CRPD to People With Intellectual and Developmental Disability With Behaviors of Concern During COVID-19. Journal of policy and practice in intellectual disabilities. 2021.

People with intellectual and developmental disability (IDD) are a vulnerable population in all aspects of access and participation, abuse and neglect, and being subject to the use of restrictive practices. Accordingly, they are a group whose human rights can be impacted where equal access to supports, services, and accessible information is compromised. The current COVID-19 pandemic is a global humanitarian emergency that has had a devastating impact across the world, for all people. Growing concern has been raised about the impact of the COVID-19 virus on the health of people with disabilities and there has been subsequent development of strategies and protocols to promote equal access to information, health supports, and services. People with IDD have high levels of underlying comorbidity that increases their risk of contracting COVID-19 and measures to protect them from infection are critically important. However, those measures may trigger behaviors of concern and increase the risk of being subjected to restrictive practices. While some attention has been paid to the health impacts of COVID-19 on people with disabilities, there has been less paid to the impact on the human rights of people with IDD who present with behaviors of concern. The aim of this paper is to provide a hypothetical exploration of the impacts of pandemic prevention measures on people with IDD and behaviors of concern in the context of the Convention on the Rights of Persons with Disabilities (CRPD). In the absence of available guidance for working with people with IDD with behaviors of concern during COVID-19, we suggest behavior support response plans that aim to ensure that people with IDD with behaviors of concern are supported properly in a time of significant disruption for them, thereby safeguarding their human rights.

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8. Sandham V, Hill AE, Hinchliffe F. The current practices of Australian speech-language pathologists in providing communication services to children with autism spectrum disorder. International journal of speech-language pathology. 2021; 23(6): 641-51.

PURPOSE: Evidence-Based Practice (EBP) is fundamental to speech-language pathology practice. Australian speech-language pathologists (SLPs) who treat communication disorders in children with autism spectrum disorder (ASD) face unique challenges in implementing EBP. Challenges may include selecting an intervention from a myriad of available interventions for use within a complex population. Identification of current practices of Australian SLPs in communication service provision to children with ASD will provide a baseline for use of EBP and may guide future efforts to engage in EBP. METHOD: A total of 109 Australian SLPs who provide communication services to children with ASD completed an online survey. Descriptive and inferential statistics were used to analyse service delivery and participant experiences of EBP. RESULT: The most common barrier to delivering EBP was inadequate resources. The most utilised strategy was discussing evidence with colleagues. Most participants reported using therapies which did not adhere to a standard protocol, such as eclectic approaches. The majority also reported use of outcome measures which they believe adequately represent functional communication changes for their client. CONCLUSION: Resource limitations may result in over-reliance on interventions lacking empirical support and over-reliance on subjective outcome measurement tools. Reflective practice and self-evaluation of communication services to children with ASD may support improved provision of EBP.

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9. Soffer M, Argaman-Danos S. Self-labeling, perceived stigma toward autism spectrum disorder, and self-esteem and the change in autism nosology. Disability and health journal. 2021; 14(4): 101162.

BACKGROUND: Since the DSM-5 came into force, individuals previously diagnosed with Asperger’s syndrome (AS) were newly labeled as having autism spectrum disorder (ASD), raising concerns about the exacerbation of stigma toward individuals with AS. OBJECTIVE: This study explored: (a) the self-labeling among people previously diagnosed with AS; (b) the correlation among self-labeling, perceived public stigma (PPS) toward ASD, and self-esteem among people with AS; and (c) whether self-labeling mediates the relationship of PPS with ASD and self-esteem. METHODS: A convenience sample of 89 individuals previously diagnosed with AS completed anonymous online questionnaires. RESULTS: Most participants self-labeled as people with AS. Self-labeling was not significantly correlated with PPS or self-esteem. Self-labeling did not mediate the correlation between PPS and self-esteem; PPS was directly correlated with self-esteem. CONCLUSIONS: Our study’s findings suggest that stigma and language are not necessarily connected. This implies that rehabilitation and health care professionals should not assume that language perpetuates stigma, but rather that stigma-both among the public and as perceived by people with ASD-should be the focus of intervention.

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10. Taylor JL, Pezzimenti F, Burke MM, DaWalt LS, Lee CE, Rabideau C. Development, Feasibility, and Acceptability of a Nationally Relevant Parent Training to Improve Service Access During the Transition to Adulthood for Youth with ASD. Journal of autism and developmental disorders. 2021: 1-12.

Many youth with autism spectrum disorder (ASD) face challenges accessing needed services as they transition to adulthood. The present study describes the development, feasibility and acceptability of a new intervention designed to teach parents of transition-aged youth with ASD about the adult service system and the most effective ways to access services and supports. As part of a randomized-controlled trial, the intervention-named ASSIST-was delivered to 91 participants in three states in the U.S. Results suggested that ASSIST is feasible and acceptable to participants. Though intended to be an in-person group-based program, due to COVID-19 restrictions ASSIST was primarily delivered online. Results and discussion explore the trade-offs and implications of these different treatment delivery modalities in relation to ASSIST.

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11. Topal Z, Tufan AE, Karadag M, Gokcen C, Akkaya C, Sarp AS, Bahsi I, Kilinc M. Evaluation of peripheral inflammatory markers, serum B12, folate, ferritin levels and clinical correlations in children with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Nordic journal of psychiatry. 2022; 76(2): 150-7.

AIM: The aim of the current study is to compare serum B12, folate, and ferritin levels and peripheral inflammatory indicators between children with Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD), and healthy controls (HC) and to evaluate the correlation of those with symptoms. MATERIALS AND METHODS: A total of 203 children were evaluated (ASD = 72; ADHD = 61; HC = 70). Diagnoses of ASD and ADHD were ascertained according to Schedule for Affective Disorders and Schizophrenia for School-Age Children – Present and Lifetime Version (K-SADS-PL). Control group was chosen among the healthy children who applied to general pediatrics outpatient clinic. Gilliam Autism Rating Scale-2 is used to assess autistic symptoms and Atilla Turgay DSM-IV Based Child and Adolescent Behavior Disorders Screening and Rating Scale is used for ADHD symptoms. RESULTS: Neutrophil levels (p = 0.014) and neutrophil/lymphocyte ratio (NLR) (p = 0.016) were higher in the ADHD and ASD groups compared to HC. Neutrophil values explained 70.1% of the variance across groups while NLR explained a further 29.9% of the variance. NLR significantly correlated with social interaction problems in ASD (r = 0.26, p = 0.04). There were no significant differences between groups in terms of vitamin B12, folate and ferritin levels. CONCLUSION: Our results may support involvement of inflammation in the underlying pathophysiology of neurodevelopmental disorders. However, these parameters should be analyzed in a wider population to clarify the effect on the etiology and symptomatology of neurodevelopmental disorders.

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12. Vasa RA, Singh V, Holingue C, Kalb LG, Jang Y, Keefer A. Psychiatric problems during the COVID-19 pandemic in children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2113-9.

Children with autism spectrum disorder (ASD) are at elevated risk for psychiatric problems in response to the COVID-19 pandemic. This risk is due to their high rates of pre-pandemic psychiatric comorbidities and the pandemic’s disruption to routines and access to necessary supports. Prior research has indicated that children with ASD may experience a worsening of specific psychiatric symptoms in response to COVID-19, though this body of work is limited in scope. The present study expands this literature by examining specific types of psychiatric problems that emerged about 2 months after the onset of the pandemic, and risk factors predicting changes in these psychiatric symptoms. Parents of children with a confirmed ASD diagnosis (N = 257), who enrolled in a clinic registry at an outpatient specialty autism center, were included in this study. All data were gathered online via customized and standardized questionnaires. Results showed that 59% of children experienced either a worsening of their pre-pandemic psychiatric diagnoses and/or the development of new psychiatric symptoms during the pandemic. Multivariable regression models indicated that risk factors for increased psychiatric problems included child understanding of COVID-19, COVID-19 illness in the family, low family income, and elevated parental depression and anxiety symptoms (all p < 0.05). Findings from this study emphasize the urgent need to provide effective and accessible psychiatric services for children with ASD and their families during and after the pandemic. LAY SUMMARY: Children with ASD are at high risk for psychiatric problems during the COVID-19 pandemic. We found that 59% of children in our clinical sample are experiencing increased psychiatric problems. The child's understanding of COVID-19, COVID-19 illness in the family, low family income, and depression and anxiety symptoms in the parent increase the risk for poor mental health during the pandemic. These findings indicate the importance of helping children with ASD access mental health treatment during COVID-19.

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13. Vashi N, Ackerley C, Post M, Justice MJ. Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome. Human molecular genetics. 2021; 30(22): 2161-76.

Severe respiratory impairment is a prominent feature of Rett syndrome, an X-linked disorder caused by mutations in methyl CpG-binding protein 2 (MECP2). Despite MECP2’s ubiquitous expression, respiratory anomalies are attributed to neuronal dysfunction. Here, we show that neutral lipids accumulate in mouse Mecp2-mutant lungs, whereas surfactant phospholipids decrease. Conditional deletion of Mecp2 from lipid-producing alveolar epithelial 2 (AE2) cells causes aberrant lung lipids and respiratory symptoms, whereas deletion of Mecp2 from hindbrain neurons results in distinct respiratory abnormalities. Single-cell RNA sequencing of AE2 cells suggests lipid production and storage increase at the expense of phospholipid synthesis. Lipid production enzymes are confirmed as direct targets of MECP2-directed nuclear receptor co-repressor 1/2 transcriptional repression. Remarkably, lipid-lowering fluvastatin improves respiratory anomalies in Mecp2-mutant mice. These data implicate autonomous pulmonary loss of MECP2 in respiratory symptoms for the first time and have immediate impacts on patient care.

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14. Wagner S, Rubin IL, Singh JS. Underserved and Undermeasured: a Mixed-Method Analysis of Family-Centered Care and Care Coordination for Low-Income Minority Families of Children with Autism Spectrum Disorder. Journal of racial and ethnic health disparities. 2021.

This study examined how a racially and socioeconomically diverse group of caregivers of children with autism spectrum disorder (ASD) responds to national standard measures of family-centered care (FCC) and care coordination (CC) and what aspects of quality care are missing from these measures. Based on survey and interview data collected from 70 caregivers who have a child with ASD that receive services at a community-based autism clinic located in Atlanta, GA, we compared proportions of answers to FCC and CC questions to national and state representative data using chi-square analyses and contextualized our findings through a thematic analysis of qualitative interviews. Compared to national- and state-level data, the Atlanta autism clinic data had a higher percentage of participants who identified as Black, relied on public health insurance, and lived below 200% of the federal poverty line. The Atlanta autism clinic responses were significantly more positive in four measures of FCC but significantly less effective in two CC measures, including a lower reported percentage who received CC and greater reported percentage who needed extra help. Qualitative data revealed a range of positive meanings and challenges associated with FCC and identified areas of help needed beyond CC, including physical and mental health care and emotional connection, especially for low-income single Black female caregivers. Our mixed-method approach identified strengths in FCC, barriers to CC, and suggestions for developing more pragmatic questions in national surveys that address experiences of quality-of-care among low-income, racial minority families of children with ASD.

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15. Wegscheid ML, Anastasaki C, Hartigan KA, Cobb OM, Papke JB, Traber JN, Morris SM, Gutmann DH. Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis. Cell reports. 2021; 36(1): 109315.

Neurodevelopmental disorders are often caused by chromosomal microdeletions comprising numerous contiguous genes. A subset of neurofibromatosis type 1 (NF1) patients with severe developmental delays and intellectual disability harbors such a microdeletion event on chromosome 17q11.2, involving the NF1 gene and flanking regions (NF1 total gene deletion [NF1-TGD]). Using patient-derived human induced pluripotent stem cell (hiPSC)-forebrain cerebral organoids (hCOs), we identify both neural stem cell (NSC) proliferation and neuronal maturation abnormalities in NF1-TGD hCOs. While increased NSC proliferation results from decreased NF1/RAS regulation, the neuronal differentiation, survival, and maturation defects are caused by reduced cytokine receptor-like factor 3 (CRLF3) expression and impaired RhoA signaling. Furthermore, we demonstrate a higher autistic trait burden in NF1 patients harboring a deleterious germline mutation in the CRLF3 gene (c.1166T>C, p.Leu389Pro). Collectively, these findings identify a causative gene within the NF1-TGD locus responsible for hCO neuronal abnormalities and autism in children with NF1.

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16. Wright Stein S, Alexander R, Mann J, Schneider C, Zhang S, Gibson BE, Gabison S, Jachyra P, Mosleh D. Understanding disability in healthcare: exploring the perceptions of parents of young people with autism spectrum disorder. Disability and rehabilitation. 2021: 1-8.

Purpose: How autism spectrum disorder (ASD) is understood (i.e., as a medical problem or natural human variation) has profound implications for how healthcare services are designed and delivered. As the recipients of these services, children and families are highly invested in these debates, yet little research has sought to investigate their views. The purpose of this study was to explore parents’ conceptualizations of ASD in relation to disability, and how they align with, or diverge from, conceptualizations they encounter within healthcare.Materials and methods: Nine semi-structured qualitative interviews were conducted with parents of children with ASD and thematically analyzed.Results: The accounts suggested that participants integrated multiple and sometimes contradictory conceptualizations of disability that reflected both « medical » and « social » models and sources of disablement. While the participants often advocated for acceptance and inclusion of their child, the label of « neurodiversity » was commonly rejected due to the concern for potential loss of funding for services.Conclusions: Study findings highlight the relationship between how parents conceptualize ASD and their experiences accessing supportive services within current delivery structures. Implications for ASD service providers emphasize accommodating parents’ unique and evolving values and priorities for healthcare and their relation to current service systems.Implications for RehabilitationParents conceptualizations of ASD both inform and are influenced by their experiences of accessing supportive services.This study highlights that parents’ perspectives are fluid, context-dependent, and do not exclusively represent a single model or perspective of disability.To meet family needs, service providers including healthcare professionals must recognize parents’ unique understandings of their child’s ASD and appreciate how healthcare shapes these perceptions.

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