1. Ataro Adere A, Dababnah S, Habayeb S. Identifying Needs of Ethiopian and Eritrean American Parents of Autistic Children. Journal of autism and developmental disorders. 2023.

Collectively, Ethiopians and Eritreans represent one of the largest African immigrant groups in the US, yet no research to date exists on families from these communities raising autistic children. The purpose of our study was to examine the experiences of Ethiopian and Eritrean families of autistic children including experiences (1) receiving the autism diagnosis and interacting with healthcare providers, (2) obtaining services and supports for children (including satisfaction with services and barriers to care), and (3) accessing services and supports for caregivers and families (including needs and barriers to care). Ethiopian and Eritrean parents (N = 51) raising autistic children in the US completed an online survey. Parents reported limited prior knowledge of autism within their communities and had varied experiences with healthcare providers through the diagnostic process. They endorsed barriers to accessing care for their child and family supports (such as provider shortages and cost of services), service needs, and dissatisfaction with school-based and behavioral supports. Many parents reported a negative impact on workforce participation in order to meet their child’s needs. Parents identified needs that would benefit their autistic children and families, such as accessible support groups to obtain relevant information. To our knowledge, this is the first systematic study exploring the experiences of Ethiopian and Eritrean families raising autistic children in the US. We discuss implications of our findings and recommendations for culturally responsive care.

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2. Dawson G. Could an Eye-Tracking Test Aid Clinicians in Making an Autism Diagnosis?: New Findings and a Look to the Future. Jama. 2023; 330(9): 815-7.

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3. Guldiken G, Karayagmurlu A, Kucukgergin C, Coskun M. VEGF, IGF-1 and FGF-2 Serum Levels in Children and Adolescents with Autism Spectrum Disorder with and without Bipolar Disorder. Journal of autism and developmental disorders. 2023.

PURPOSE: To investigate serum levels of VEGF, IGF-1 and FGF-2, and relationships with several clinical characteristics in children and adolescents with autism spectrum disorder (ASD) with and without bipolar disorder (BD). METHOD: 40 subjects with ASD + BD as study group, and 40 subjects with ASD as control group were included. Serum levels of VEGF, IGF-1, and FGF-2 were measured using commercial enzyme-linked immunosorbent assay kits. RESULTS: The study group was significantly higher than the control group in terms of ASD severity, self-harming behavior and sleep disturbance. Serum VEGF and FGF-2 levels were significantly higher in the ASD + BD group than in the control group. There was no significant difference in serum IGF-1 levels between the two groups. There was no correlation between VEGF, IGF-1 and FGF-2 serum levels and ASD severity in the study group. However there was a negative correlation between VEGF levels and age at first diagnosis of BD, and a positive correlation between IGF-1 levels and the number of bipolar episodes in the study group. CONCLUSION: Growth factors like VEGF and FGF-2 may be potential biomarkers of bipolar disorder in young subjects with ASD. Given the difficulty of clinical management of BD in young subjects with ASD, potential biomarkers would help clinicians in the diagnosis and follow up of BD in this special population. Further research is needed whether VEGF and FGF-2 can be potential biomarkers in the clinical management of young subjects with ASD and BD.

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4. Huntjens A, Landlust A, Wissenburg S, van der Gaag M. The Prevalence of Suicidal Behavior in Autism Spectrum Disorder. Crisis. 2023.

Background: Suicidal ideation (SI) and suicide attempts (SA) are common in autistic individuals, but prevalence rates have not yet been estimated with meta-analysis. Aims: This meta-analysis aims to estimate SI and SA prevalence rates in autistic individuals and identify subgroup differences based on sample characteristics and study quality. Methods: A systematic search identified 52 studies with 88,509 autistic participants reporting SI and SA. Pooled prevalence estimates were calculated using a random-effects model. Results: Pooled prevalence estimates of lifetime SI and SA were 37.2% [95% CI 25.3-50.8] and 15.3% [95% CI 9.5-23.6], respectively. For 12-month prevalence, this was 25.4% [95% CI 19.0-33.2] and 14.1% [95% CI 7.4-25.2], respectively. Subgroup analyses revealed significant differences based on age (SI), region (SI), data collection (SI), measurement scales used to define autism and suicidality (SA), and representation of the study sample (SI and SA). Heterogeneity measures were high for all outcomes (I(2) = 60.3-99.1%). Limitations: The heterogeneity of the included studies may limit the generalizability of our findings. Conclusion: The high rates of suicidal problems in autistic individuals call for a systematic evaluation of suicidality in clinical practice and adequate therapeutic interventions to improve this condition.

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5. Jones W, Klaiman C, Richardson S, Aoki C, Smith C, Minjarez M, Bernier R, Pedapati E, Bishop S, Ence W, Wainer A, Moriuchi J, Tay SW, Klin A. Eye-Tracking-Based Measurement of Social Visual Engagement Compared With Expert Clinical Diagnosis of Autism. Jama. 2023; 330(9): 854-65.

IMPORTANCE: In the US, children with signs of autism often experience more than 1 year of delay before diagnosis and often experience longer delays if they are from racially, ethnically, or economically disadvantaged backgrounds. Most diagnoses are also received without use of standardized diagnostic instruments. To aid in early autism diagnosis, eye-tracking measurement of social visual engagement has shown potential as a performance-based biomarker. OBJECTIVE: To evaluate the performance of eye-tracking measurement of social visual engagement (index test) relative to expert clinical diagnosis in young children referred to specialty autism clinics. DESIGN, SETTING, AND PARTICIPANTS: In this study of 16- to 30-month-old children enrolled at 6 US specialty centers from April 2018 through May 2019, staff blind to clinical diagnoses used automated devices to measure eye-tracking-based social visual engagement. Expert clinical diagnoses were made using best practice standardized protocols by specialists blind to index test results. This study was completed in a 1-day protocol for each participant. MAIN OUTCOMES AND MEASURES: Primary outcome measures were test sensitivity and specificity relative to expert clinical diagnosis. Secondary outcome measures were test correlations with expert clinical assessments of social disability, verbal ability, and nonverbal cognitive ability. RESULTS: Eye-tracking measurement of social visual engagement was successful in 475 (95.2%) of the 499 enrolled children (mean [SD] age, 24.1 [4.4] months; 38 [8.0%] were Asian; 37 [7.8%], Black; 352 [74.1%], White; 44 [9.3%], other; and 68 [14.3%], Hispanic). By expert clinical diagnosis, 221 children (46.5%) had autism and 254 (53.5%) did not. In all children, measurement of social visual engagement had sensitivity of 71.0% (95% CI, 64.7% to 76.6%) and specificity of 80.7% (95% CI, 75.4% to 85.1%). In the subgroup of 335 children whose autism diagnosis was certain, sensitivity was 78.0% (95% CI, 70.7% to 83.9%) and specificity was 85.4% (95% CI, 79.5% to 89.8%). Eye-tracking test results correlated with expert clinical assessments of individual levels of social disability (r = -0.75 [95% CI, -0.79 to -0.71]), verbal ability (r = 0.65 [95% CI, 0.59 to 0.70]), and nonverbal cognitive ability (r = 0.65 [95% CI, 0.59 to 0.70]). CONCLUSIONS AND RELEVANCE: In 16- to 30-month-old children referred to specialty clinics, eye-tracking-based measurement of social visual engagement was predictive of autism diagnoses by clinical experts. Further evaluation of this test’s role in early diagnosis and assessment of autism in routine specialty clinic practice is warranted. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03469986.

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6. Jones W, Klaiman C, Richardson S, Lambha M, Reid M, Hamner T, Beacham C, Lewis P, Paredes J, Edwards L, Marrus N, Constantino JN, Shultz S, Klin A. Development and Replication of Objective Measurements of Social Visual Engagement to Aid in Early Diagnosis and Assessment of Autism. JAMA network open. 2023; 6(9): e2330145.

IMPORTANCE: Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child’s development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later. OBJECTIVE: To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years. DESIGN, SETTING, AND PARTICIPANTS: In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019. MAIN OUTCOMES AND MEASURES: Prespecified primary end points were the sensitivity and specificity of the eye-tracking-based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking-based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability. RESULTS: Data were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children’s individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively. CONCLUSIONS AND RELEVANCE: In two diagnostic studies of children younger than 3 years, objective eye-tracking-based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment.

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7. Li S, Yong Y, Li Y, Li J, Xie J. Cognitive-Based Interventions for Improving Psychological Health and Well-Being for Parents of Children with Developmental Disabilities: A Systematic Review and Meta-analysis. Journal of autism and developmental disorders. 2023.

This review aims to systematically summarize existing evidence to determine the effectiveness of cognitive-based interventions (CBIs) on psychological health and well-being among parents of children with developmental disabilities (DD). Six databases were searched to identify eligible randomized controlled trials (RCTs) from their inception to April 2023. The revised Cochrane Risk of Bias tool for RCTs was applied to assess the risk of bias and the certainty of evidence was evaluated using the Grading of Recommendation, Assessment, Development and Evaluation. Meta-analyses were conducted using a random-effects model. Twenty-five RCTs involving 1915 participants were identified. The results indicated that CBIs reduced parental stress levels (Hedges’ g = - 0.69), depressive symptoms (g = - 0.95), anxiety levels (g = - 0.78), and parental distress (g = - 0.29), and improved parental well-being (g = 0.62) and parent‒child relationships (g = 0.43) postintervention compared with the active/inactive control groups. Subgroup analysis of the effectiveness of interventions using mindfulness-based interventions and cognitive behavioural therapy showed positive effects. The favourable intervention duration and participant targets were also identified in this review. Furthermore, the effects of CBIs were impacted by the different types of DD among the children. This review highlighted the positive effects of CBIs on parental stress levels, depressive symptoms, anxiety levels, parental distress levels, parental well-being levels, and parent‒child relationships. Future well-designed RCTs are needed to further investigate the effects of MBIs and CBT interventions on children with DD and their parents, as well as the factors and mechanisms of action affecting the efficacy of these interventions.

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8. Li X, Ma X, Li Y. [A review of studies on visual behavior analysis aided diagnosis of autism spectrum disorders]. Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi. 2023; 40(4): 812-9.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviors. With the rapid development of computer vision, visual behavior analysis aided diagnosis of ASD has got more and more attention. This paper reviews the research on visual behavior analysis aided diagnosis of ASD. First, the core symptoms and clinical diagnostic criteria of ASD are introduced briefly. Secondly, according to clinical diagnostic criteria, the interaction scenes are classified and introduced. Then, the existing relevant datasets are discussed. Finally, we analyze and compare the advantages and disadvantages of visual behavior analysis aided diagnosis methods for ASD in different interactive scenarios. The challenges in this research field are summarized and the prospects of related research are presented to promote the clinical application of visual behavior analysis in ASD diagnosis.

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9. Liu HF, Sun WY, Chen Q, Chen BY, Bi HY. [A review of research on psychological and behavioral problems in children with autism spectrum disorder during the coronavirus disease 2019 epidemic]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2023; 25(8): 877-83.

Since December 2019, coronavirus disease 2019 (COVID-19) has been rapidly spreading worldwide and affecting the physical and mental health of the general population. It may have even more serious potential harm to children with autism spectrum disorder (ASD). This paper provides a literature review on the psychological and behavioral problems experienced by children with ASD during the COVID-19 epidemic, as well as the factors influencing these issues. The findings of this review can serve as a basis for clinical research on ASD children.

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10. Liu X, Guo C, Zou MY, Feng FM, Liang SM, Chen WX, Wu LJ. [Association between maternal gestational diabetes mellitus and the risk of autism spectrum disorder in offspring]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2023; 25(8): 818-23.

OBJECTIVES: To explore the association between maternal gestational diabetes mellitus (GDM) exposure and the development of autism spectrum disorder (ASD) in offspring. METHODS: A case-control study was conducted, recruiting 221 children with ASD and 400 healthy children as controls. Questionnaires and interviews were used to collect information on general characteristics of the children, socio-economic characteristics of the family, maternal pregnancy history, and maternal disease exposure during pregnancy. Multivariate logistic regression analysis was used to investigate the association between maternal GDM exposure and the development of ASD in offspring. The potential interaction between offspring gender and maternal GDM exposure on the development of ASD in offspring was explored. RESULTS: The proportion of maternal GDM was significantly higher in the ASD group compared to the control group (16.3% vs 9.4%, P=0.014). After adjusting for variables such as gender, gestational age, mode of delivery, parity, and maternal education level, maternal GDM exposure was a risk factor for ASD in offspring (OR=2.18, 95%CI: 1.04-4.54, P=0.038). On the basis of adjusting the above variables, after further adjusting the variables including prenatal intake of multivitamins, folic acid intake in the first three months of pregnancy, and assisted reproduction the result trend did not change, but no statistical significance was observed (OR=1.94, 95%CI: 0.74-5.11, P=0.183). There was an interaction between maternal GDM exposure and offspring gender on the development of ASD in offspring (P<0.001). Gender stratified analysis showed that only in male offspring of mothers with GDM, the risk of ASD was significantly increased (OR=3.67, 95%CI: 1.16-11.65, P=0.027). CONCLUSIONS: Maternal GDM exposure might increase the risk of ASD in offspring. There is an interaction between GDM exposure and offspring gender in the development of ASD in offspring.

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11. Pigoni M, Uzquiano A, Paulsen B, Kedaigle AJ, Yang SM, Symvoulidis P, Adiconis X, Velasco S, Sartore R, Kim K, Tucewicz A, Tropp SY, Tsafou K, Jin X, Barrett L, Chen F, Boyden ES, Regev A, Levin JZ, Arlotta P. Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity. Human molecular genetics. 2023; 32(18): 2773-86.

De novo heterozygous loss-of-function mutations in phosphatase and tensin homolog (PTEN) are strongly associated with autism spectrum disorders; however, it is unclear how heterozygous mutations in this gene affect different cell types during human brain development and how these effects vary across individuals. Here, we used human cortical organoids from different donors to identify cell-type specific developmental events that are affected by heterozygous mutations in PTEN. We profiled individual organoids by single-cell RNA-seq, proteomics and spatial transcriptomics and revealed abnormalities in developmental timing in human outer radial glia progenitors and deep-layer cortical projection neurons, which varied with the donor genetic background. Calcium imaging in intact organoids showed that both accelerated and delayed neuronal development phenotypes resulted in similar abnormal activity of local circuits, irrespective of genetic background. The work reveals donor-dependent, cell-type specific developmental phenotypes of PTEN heterozygosity that later converge on disrupted neuronal activity.

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12. Schiltz HK, Clarke E, Rosen N, De La Rosa SG, Masjedi N, Christopher K, Lord C. A Longitudinal Mixed-Methods Characterization of Family Support from Adolescence to Young Adulthood in Autism and Other Developmental Disabilities. Journal of autism and developmental disorders. 2023.

Although caregiving responsibilities and need for support persist and evolve across the life course in families with autistic youth or youth with other developmental disabilities (DDs), little is known about support during their child’s adulthood years. Therefore, the present study used a mixed-methods approach to examine change and stability in formal and informal family support across the transition to adulthood. Caregivers of 126 individuals with autism or DDs completed a modified version of the Family Support Scale, including open-ended questions, at five time points from adolescence (age 16) into young adulthood (age 22). Caregivers reported that informal support from family members was the most frequently used, helpful, and valued source of support with relative stability across time. In contrast, the reported helpfulness, use, and value of formal support (e.g., professionals, schools) for caregivers declined over time. Qualitative content analyses revealed characteristics of highly valued support included support type (e.g., instrumental or emotional) and features of the support source (e.g., their understanding). There was a shift to valuing emotional support more than instrumental support over time, especially for caregivers of less able adults. Partnership and dependability emerged as highly valued features of the support source. These findings fit within a social convoy perspective and likely reflect the « service cliff » experienced by autistic individuals or people with DDs and their families. As social networks shrink over time and formal services are less readily available in adulthood, remaining sources of support, particularly from family members, become increasingly important.

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13. Solomon M, Hernandez JAY, Ruder S, Bothra S, Gonzales C, Kecskemeti K, Takarae Y. Commentary: The challenges and promises of competitively employing autistic adults in the United States. Autism research : official journal of the International Society for Autism Research. 2023.

Current United States statistics suggest that autistic individuals will experience high unemployment and underemployment rates throughout their lives. Furthermore, despite the passage of federal legislation to employ young autistic adults in competitive integrated settings, where they work alongside non-disabled workers and earn at least minimum wage, most individuals receiving state services still are placed in day programs or sheltered workshops. Since meaningful employment is the most important determinant of life satisfaction, this failure is a critical societal problem, exerting increasing pressure for systems change. But the news is not all bad. Private sector companies have increased their hiring of disabled workers, producing a growing base of expertise in the recruitment, on-boarding, training, and management of autistic employees. This has led to a growing recognition that autistic individuals can be ideal workers. Autism researchers have advanced the field by investigating these private industry programs as well as conducting efficacy trials of interventions and services that help autistic individuals in the workplace. However, gaps in knowledge persist stemming from the heterogeneity of autistic workers, limited knowledge about those not receiving state services, and a system of federal services that is fragmented, poorly coordinated, difficult to navigate, and over-taxed. Autism researchers can continue to improve outcomes of autistic workers through investigations of the fit between autistic workers, their preferences, and the characteristics of available jobs, and through effectiveness trails of promising employment interventions and services that promote systems change that help break down the barriers to better integration of existing state services and resources in the United States.

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14. Zhong X, Wang L, Xu L, Lian J, Chen J, Gong X, Shao Y. Disturbance of skin sensation and autism spectrum disorder: A bidirectional Mendelian randomization study. Brain and behavior. 2023: e3238.

BACKGROUND AND AIM: Patients with autism spectrum disorder (ASD) commonly experience aberrant skin sensation sensitivity; however, the causal relationship is not yet clear. This study uses a bidirectional Mendelian randomization (MR) method to explore the relationship between disturbance of skin sensation (DSS) and ASD. METHODS: Single-nucleotide polymorphisms (SNPs) extracted from the summary data of genome-wide association studies were used as genetic instruments. MR was performed using the inverse-variance-weighted method, with alternate methods (e.g., weighted median, MR-Egger, simple mode, weighted mode, and MR-pleiotropy residual sum and outlier) and multiple sensitivity analyses to assess horizontal pleiotropy and remove outliers. RESULTS: The results of the analysis using six SNPs as genetic instruments showed that the DSS is associated with an increased risk of ASD (odds ratio = 1.126, 95% confidence interval = 1.029-1.132; p = .010). The results of the sensitivity analyses were robust with no evidence of pleiotropy. The reverse MR analyses showed no causal effects of ASD on DSS. CONCLUSION: This study’s findings suggest that DSS has potential causal effects on ASD, whereas ASD has no effect on DSS. Thus, skin sensitivity may represent a behavioral marker of ASD, by which some populations could be subtyped in the future.

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