1. Allen K, Harrington J, Quetsch LB, Masse J, Cooke C, Paulson JF. Parent-Child Interaction Therapy for Children with Disruptive Behaviors and Autism: A Randomized Clinical Trial. Journal of autism and developmental disorders. 2022.

A relatively large number of children with autism spectrum disorder (ASD) exhibit disruptive behavioral problems. While accumulating data have shown behavioral parent training programs to be efficacious in reducing disruptive behaviors for this population, there is a dearth of literature examining the impact of such programs across the range of ASD severity. To evaluate the effectiveness of Parent-Child Interaction Therapy (PCIT), an evidence-based treatment for children with problem behaviors and their families, in reducing disruptive behaviors among children (4-10 years) with ASD (without intellectual disabilities). Fifty-five children (85.5% male, 7.15 years; SD 1.72) were enrolled from pediatric offices and educational settings into a randomized clinical trial (PCIT: N = 30; Control: N = 25). PCIT families demonstrated a significant reduction in child disruptive behaviors, increase in positive parent-child communication, improvement in child compliance, and reduction in parental stress compared to the control group. Exploratory analyses revealed no differential treatment response based on ASD severity, receptive language, and age. Results are promising for the use of PCIT with children demonstrating disruptive behaviors across the autism spectrum.

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2. Chow J, Zhao H, Sandbank M, Bottema-Beutel K, Woynaroski T. Empirically-Derived Effect Size Distributions of Interventions for Young Children on the Autism Spectrum. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2022: 1-13.

OBJECTIVE: The purpose of this study is to present a set of empirically derived effect size distributions to provide field-based benchmarks for interpreting the observed effects of interventions for young children on the autism spectrum, and for planning future studies. METHOD: We generated effect size distributions and reported quartile values for each by outcome domain, and by boundedness, proximity, and assessment approach using 1552 effect sizes from 144 early childhood autism intervention studies gathered for a previously published meta-analysis. RESULTS: Quartile values represent considerable heterogeneity in effect size distributions across outcome domains, as well as variability as a function of outcome boundedness, proximity, and assessment approach. CONCLUSIONS: Our results serve as field- and outcome-specific benchmarks (e.g., contextual guides for small, medium, and large effects) that will help autism intervention researchers easily incorporate information from relevant prior empirical literature when conducting power analyses to plan for future studies. Benchmarks will also assist researchers seeking to interpret the magnitude of observed effects in clinical trials relative to the broader distribution of intervention effects on similar outcomes. Nuanced discussions that contextualize study findings in light of relevant empirical benchmarks will better assist practitioners in understanding the magnitude and scope of demonstrated change relative to studies with similar outcomes and selecting interventions for clinical practice. We discuss the limitations of these data, our analyses, as well as directions for future work.

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3. Conrad C, Cerda N, Harstad E. Parent-Reported Problems Accessing Mental Health Services Among a National Sample of Youth with Autism Spectrum Disorder and Anxiety. Journal of developmental and behavioral pediatrics : JDBP. 2022.

OBJECTIVE: The objective of this study was to identify factors associated with parent-reported problems accessing needed mental health services (MHS) in youth with autism spectrum disorder and anxiety. METHODS: This study is a secondary analysis using the National Survey of Children’s Health 2016 to 2017 data sets with multivariable logistic regression. Subjects are 6 to 17 year olds with parent-reported autism spectrum disorder (ASD) and anxiety. Outcome is parent-reported challenge accessing needed mental health treatment, dichotomized to not a problem versus problem. Covariates included race/ethnicity, intellectual disability, insurance, medical home, poverty level, and parent education level. RESULTS: The sample included 568 youth with ASD and anxiety-78% male subjects, mean age 12.5 years, and 63% White, non-Hispanic. Fifty-three percent of youth with ASD and anxiety had parent-reported problems accessing needed MHS. Lack of medical home (adjusted odds ratio [aOR] 5.97, 95% confidence interval [CI] [2.72-13.09]) and coexisting intellectual disability (aOR 2.23, 95% CI [1.08-4.60]) were significantly associated with problems accessing MHS. Reported family incomes at 0% to 99% and 100% to 199% of the federal poverty level as compared with family income at 400% federal poverty level or above (aOR 0.32, 95% CI [0.11-0.94] and aOR 0.35, 95% CI [0.13-0.95], respectively) was associated with decreased problems accessing MHS. CONCLUSION: In this nationally representative study, more than half of youth with ASD and anxiety had parent-reported problems accessing needed MHS. Lack of a medical home, co-occurring intellectual disability, and higher socioeconomic status (SES) are associated with problems accessing MHS. Therefore, policies to support the medical home; increase mental health supports available for those with ASD, anxiety, and coexisting intellectual disability; and support access for all SES levels may increase mental health access.

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4. Efstratopoulou M, Sofologi M, Giannoglou S, Bonti E. Parental Stress and Children’s Self-Regulation Problems in Families with Children with Autism Spectrum Disorder (ASD). Journal of Intelligence. 2022; 10(1).

Background: Increased parental stress is strongly related to the severity of autism spectrum disorder (ASD) symptomatology. Parents’ coping strategies and social support issues add to the complexity of this relationship. Aim: The present study investigated the relationship between self-regulation skills and parenting stress in parents of nonverbal children with ASD. Methods and procedure: The Parenting Stress Index-Short Form (PSI-SF) was administered to 75 families, and self-regulation scores on a Motor Behavior Checklist for children (MBC) were recorded by students’ class teachers (level of functioning-behavioral problems). In addition, interviews were conducted with a focus group of six parents (four mothers and two fathers) to explore the underline factors of parental stressin-depth. Results: Correlation analyses revealed that parenting stress was positively correlated with elevated scores on MBC children’s self-regulation subscale. On the other hand, parenting stress was negatively correlated with the level of social functional support reported. Qualitative data were analyzed using transcripts, revealing additional stressors for families and parents, and resulting in recommendations to overcome these factors. Conclusions and implications: Aiming at developing strategies to improve self-regulation skills in nonverbal children with ASD may be particularly important in reducing parental stress for families having nonverbal children with autism and other developmental disabilities. Parents’ stressors and suggestions during interviews are also discussed.

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5. Hudock RL, Esler AN. Clinical considerations when conducting diagnostic evaluations to identify autism spectrum disorder in young children. The Clinical neuropsychologist. 2022: 1-22.

OBJECTIVE: This paper provides clinical guidance supported by the literature on conducting diagnostic evaluations for young children suspected of having autism spectrum disorder (ASD). METHOD: Authors provided a summary of clinical recommendations and evidence-based strategies for providing diagnostic evaluations for young children suspected of having ASD that are supported by the existing literature. RESULTS: ASD is a complex condition that typically presents in the first couple years of a child’s life. While many children can be accurately diagnosed by age 2, the majority of children are diagnosed much later. This article provides recommendations for evidence-based clinical practices to support accurate early identification and diagnosis in young children with autism. Recommended practices and measures for screening, comprehensive diagnostic evaluation, and differential diagnosis of ASD in early childhood are discussed. CONCLUSIONS: Early identification of ASD is important to promote improved outcomes related to early intervention. There are a variety of tools and practices available to support neuropsychologists in providing accurate early diagnosis and appropriate developmental monitoring for children suspected of ASD and related neurodevelopmental conditions. There is a need for continued efforts regarding awareness of ASD in early childhood and targeted training in ASD for neuropsychologists and other disciplines who support families of young children with disabilities.

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6. Kenny A, Wright D, Stanfield AC. EEG as a translational biomarker and outcome measure in fragile X syndrome. Translational psychiatry. 2022; 12(1): 34.

Targeted treatments for fragile X syndrome (FXS) have frequently failed to show efficacy in clinical testing, despite success at the preclinical stages. This has highlighted the need for more effective translational outcome measures. EEG differences observed in FXS, including exaggerated N1 ERP amplitudes, increased resting gamma power and reduced gamma phase-locking in the sensory cortices, have been suggested as potential biomarkers of the syndrome. These abnormalities are thought to reflect cortical hyper excitability resulting from an excitatory (glutamate) and inhibitory (GABAergic) imbalance in FXS, which has been the target of several pharmaceutical remediation studies. EEG differences observed in humans also show similarities to those seen in laboratory models of FXS, which may allow for greater translational equivalence and better predict clinical success of putative therapeutics. There is some evidence from clinical trials showing that treatment related changes in EEG may be associated with clinical improvements, but these require replication and extension to other medications. Although the use of EEG characteristics as biomarkers is still in the early phases, and further research is needed to establish its utility in clinical trials, the current research is promising and signals the emergence of an effective translational biomarker.

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7. Koyama AK, Koumans EH, Sircar K, Lavery A, Hsu J, Ryerson AB, Siegel DA. Severe Outcomes, Readmission, and Length of Stay Among COVID-19 Patients with Intellectual and Developmental Disabilities. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases. 2022; 116: 328-30.

OBJECTIVES: The aim of this study was to evaluate the association between intellectual and developmental disabilities (IDDs) and severe COVID-19 outcomes, 30-day readmission, and/or increased length of stay (LOS) using a large electronic administrative database. METHODS: Patients hospitalized with COVID-19 were identified between March 2020 and June 2021 from more than 900 hospitals in the United States. IDDs included intellectual disability, cerebral palsy, Down syndrome, autism spectrum disorder (ASD), and other intellectual disabilities. Outcomes included intensive care unit (ICU) admission, invasive mechanical ventilation (IMV), 30-day readmission, mortality, and LOS. RESULTS: Among 643,765 patients with COVID-19, multivariate models showed that patients with any IDD were at a significantly greater risk of at least 1 severe outcome, 30-day readmission, or longer LOS than patients without any IDD. Compared with those without any IDD, patients with Down syndrome had the greatest odds of ICU admission (odds ratio [OR] and 95% confidence interval [CI]: 1.96 [1.73-2.21]), IMV (OR: 2.37 [2.07-2.70]), and mortality (OR: 2.33 [2.00-2.73]). Patients with ASD and those with Down syndrome both had over a 40% longer mean LOS. Patients with intellectual disabilities had a 23% (12-35%) increased odds of 30-day readmission. CONCLUSIONS: Results suggest that patients hospitalized with COVID-19 with IDD have a significantly increased risk of severe outcomes, 30-day readmission, and longer LOS.

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8. Maljaars J, Gijbels E, Evers K, Spain D, Rumball F, Happé F, Noens I. Impact of the COVID-19 Pandemic on Daily Life: Diverse Experiences for Autistic Adults. Journal of autism and developmental disorders. 2022: 1-13.

Using a mixed methods design, this study aimed to examine the impact of the COVID-19 pandemic on autistic and non-autistic adults. We conducted an online survey with 196 autistic and 228 non-autistic adults from Belgium, the Netherlands and the United Kingdom focusing on their experiences during the first period of the pandemic. Our results indicate rather diverse experiences within the group of autistic participants across all domains of life. In comparison with non-autistic adults, autistic adults reported less negative impact on their social life and more negative impact on health and support services. In the autism group, stress was mainly related to changing and unclear measures. A wide range of coping strategies were described as helpful in reducing stress during the pandemic.

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9. Shaw SC, Davis LJ, Doherty M. Considering autistic patients in the era of telemedicine: the need for an adaptable, equitable, and compassionate approach. BJGP open. 2022; 6(1).

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10. Tewari P, Hajela K, Ahmad SS. Bilateral superficial serratus anterior plane block in a pediatric patient for post-operative analgesia undergoing asd repair via median sternotomy- A case report. Annals of cardiac anaesthesia. 2022; 25(1): 116-8.

Serratus Anterior fascial plane (SAP) block is a high-volume interfascial plane block that has been used in adult patients in cardiac surgery with good postoperative pain relief. We report a case of a 9 year old female child who underwent ostium secundum atrial septum defect closure and was given bilateral SAP block. The patient was extubated within 4 hours of surgery and was pain free in the postoperative period without the use of any opioids.

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11. Yan D, Xu X, Wang X, Zhang X, Zhi X, Wang H, Zhang Y, Shu J. [Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(2): 216-21.

OBJECTIVE: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency. METHODS: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites. RESULTS: Sanger sequencing showed that the proband carried a homozygous c.1529C>T (p.S510F) variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment (chr6: 24 403 265-24 566 986). CONCLUSION: The c.1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family.

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12. Zhang M, Liu S, Miao Z, Han F, Gottardo R, Sun W. IDEAS: individual level differential expression analysis for single-cell RNA-seq data. Genome biology. 2022; 23(1): 33.

We consider an increasingly popular study design where single-cell RNA-seq data are collected from multiple individuals and the question of interest is to find genes that are differentially expressed between two groups of individuals. Towards this end, we propose a statistical method named IDEAS (individual level differential expression analysis for scRNA-seq). For each gene, IDEAS summarizes its expression in each individual by a distribution and then assesses whether these individual-specific distributions are different between two groups of individuals. We apply IDEAS to assess gene expression differences of autism patients versus controls and COVID-19 patients with mild versus severe symptoms.

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13. Zhou T, Tong G, Zhu L, Li S, Li H, Dong W. [Clinical and genetic analysis of three children patients with Kleefstra syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(2): 148-51.

OBJECTIVE: To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID). METHODS: Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA). RESULTS: Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance. CONCLUSION: Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.

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