1. Cerna-Luna R, Fernandez-Guzman D, Alvarado-Gamarra G, Taype-Rondan A. Developmental delay assessment in children < 5 years of age attended in the Pediatric Rehabilitation Service of a reference hospital in Peru. Bol Med Hosp Infant Mex;2023;80(3):189-201.

BACKGROUND: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru. METHODS: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs. RESULTS: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay. CONCLUSIONS: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

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2. Ghosn F, Perea M, Sahuquillo-Leal R, Moreno-Giménez A, Almansa B, Navalón P, Vento M, García-Blanco A. The effects of reward and frustration on the task performance of autistic children and adolescents. Res Dev Disabil;2023 (Jul 17);140:104567.

BACKGROUND: Autistic individuals often exhibit social communication and socio-emotional styles that may interfere with achieving social and academic outcomes. At a more specific level, they may perform differently in various social and academic tasks due to different modes of processing rewards or unpleasant experiences (e.g., frustrating events). AIM: The present experiment examines how rewards and frustration affect the task performance of autistic children and adolescents METHODS AND PROCEDURES: An affective Posner task was applied to introduce rewards and induce frustration. Forty-four autistic children and adolescents and forty-four typically developing (TD) peers participated in this study OUTCOMES AND RESULTS: Results showed that presenting social and non-social rewards resulted in shorter reaction times and lower error rates in autistic participants, but not in their TD peers. While frustration increased error rates in both autistic and TD individuals, the effect was more pronounced in the autistic group. CONCLUSIONS AND IMPLICATIONS: Social and non-social rewards help the performance of autistic children and adolescents, whereas frustration (induced through unpredictable feedback) significantly interferes with their task performance. Therefore, receiving two types of rewards and providing predictable feedback may help to improve interventions designed to optimize task performance for autistic children and adolescents.

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3. Leung XY, Kavanagh AM, Quang QT, Shields M, Aitken Z. A systematic review of the impact of the COVID-19 pandemic on the mental health of adolescents and young people with disabilities aged 15-29 years. BMC Public Health;2023 (Jul 19);23(1):1390.

BACKGROUND: The COVID-19 pandemic has exacerbated the psychological burden on young people around the world and may have disproportionately large impacts for young people with disabilities. This review aims to systematically review the quantitative evidence on the impact of the COVID-19 pandemic on the mental health of young people with disabilities and evaluate the quality of included studies. METHODS: A systematic search was conducted using 5 electronic databases. The quality of the studies was assessed using the SIGN risk of bias assessment tool. A narrative synthesis was performed to synthesize the results of included studies. RESULTS: The initial search yielded 1935 studies, of which two met the eligibility criteria, one longitudinal study and one cross-sectional study, both assessed to be of low quality. In the cross-sectional study, young people with intellectual and developmental disabilities self-reported an increase in mental health symptoms. The longitudinal study found no evidence of a change in mental health symptoms from pre-pandemic to during the pandemic among young people with autism spectrum disorder, although these individuals reported negative impacts of the COVID-19 pandemic on their emotional or mental health. CONCLUSIONS: The findings of this review provide some weak evidence of a negative impact of the COVID-19 pandemic on the mental health of young people with disabilities. Importantly, the findings highlight the lack of research in this area. More research is needed to investigate the impact of the pandemic on the mental health of young disabled people, in order for governments to develop emergency preparedness plans to safeguard the well-being of this population.

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4. Lorang E, Hanania A, Venker CE. Parent Certainty and Consistency When Completing Vocabulary Checklists in Young Autistic Children. J Speech Lang Hear Res;2023 (Jul 19):1-16.

PURPOSE: Using a novel parent report measure, this study investigated whether asking parents to rate their certainty when reporting on child vocabulary skills provided additional insight into parent report and emerging language abilities in young autistic children. Specifically, we investigated whether parent certainty varied based on whether the child was reported to understand, understand and say, or neither understand nor say the word and whether standardized measures of expressive and receptive language abilities and/or autistic traits predicted parent certainty. Lastly, we investigated whether certainty was associated with inconsistency in parent report of child word knowledge. METHOD: Twenty-one parents and their autistic children ages 2-5 years participated. One parent per child completed the MacArthur-Bates Communicative Development Inventories (MCDI) Words and Gestures form and a custom vocabulary checklist including 24 object nouns from the MCDI. Within the custom form, parents indicated whether their child understood, understood and said, or neither understood nor said 24 target nouns and reported how certain they were about their responses using a 5-point scale. Expressive language, receptive language, and autistic traits were measured via direct assessment using standardized measures. RESULTS: Parent certainty varied widely and was higher for words the parents reported the children understood and said compared to that for words children either understood or neither understood nor said. Certainty ratings were higher when a child had higher standardized receptive and expressive language scores. Lastly, parent certainty was associated with reporting consistency, clarifying previous findings of inconsistencies in parent report of child vocabulary. CONCLUSION: Findings from this study indicate that measuring parent certainty provides critical information when assessing early vocabulary skills in autistic children. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.23671497.

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5. Martin Lorenzo S, Muniz Moreno MDM, Atas H, Pellen M, Nalesso V, Raffelsberger W, Prevost G, Lindner L, Birling MC, Menoret S, Tesson L, Negroni L, Concordet JP, Anegon I, Herault Y. Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders. Front Neurosci;2023;17:1148683.

Copy number variations (CNVs) of the human 16p11.2 locus are associated with several developmental/neurocognitive syndromes. Particularly, deletion and duplication of this genetic interval are found in patients with autism spectrum disorders, intellectual disability and other psychiatric traits. The high gene density associated with the region and the strong phenotypic variability of incomplete penetrance, make the study of the 16p11.2 syndromes extremely complex. To systematically study the effect of 16p11.2 CNVs and identify candidate genes and molecular mechanisms involved in the pathophysiology, mouse models were generated previously and showed learning and memory, and to some extent social deficits. To go further in understanding the social deficits caused by 16p11.2 syndromes, we engineered deletion and duplication of the homologous region to the human 16p11.2 genetic interval in two rat outbred strains, Sprague Dawley (SD) and Long Evans (LE). The 16p11.2 rat models displayed convergent defects in social behavior and in the novel object test in male carriers from both genetic backgrounds. Interestingly major pathways affecting MAPK1 and CUL3 were found altered in the rat 16p11.2 models with additional changes in males compared to females. Altogether, the consequences of the 16p11.2 genetic region dosage on social behavior are now found in three different species: humans, mice and rats. In addition, the rat models pointed to sexual dimorphism with lower severity of phenotypes in rat females compared to male mutants. This phenomenon is also observed in humans. We are convinced that the two rat models will be key to further investigating social behavior and understanding the brain mechanisms and specific brain regions that are key to controlling social behavior.

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6. Natri HM, Chapman CR, Heraty S, Dwyer P, Walker N, Kapp SK, Dron HA, Martinez-Agosto JA, Mikkola L, Doherty M. Ethical challenges in autism genomics: Recommendations for researchers. Eur J Med Genet;2023 (Jul 19):104810.

Equitable and just genetic research and clinical translation require an examination of the ethical questions pertaining to vulnerable and marginalized communities. Autism research and advocate communities have expressed concerns over current practices of genetics research, urging the field to shift towards paradigms and practices that ensure benefits and avoid harm to research participants and the wider autistic community. Building upon a framework of bioethical principles, we provide the background for the concerns and present recommendations for ethically sustainable and justice-oriented genetic and genomic autism research. With the primary goal of enhancing the health, well-being, and autonomy of autistic persons, we make recommendations to guide priority setting, responsible research conduct, and informed consent practices. Further, we discuss the ethical challenges particularly pertaining to research involving highly vulnerable individuals and groups, such as those with impaired cognitive or communication ability. Finally, we consider the clinical translation of autism genetics studies, including the use of genetic testing. These guidelines, developed by an interdisciplinary working group comprising autistic and non-autistic individuals, will aid in leveraging the potential of genetics research to enhance the quality of life of autistic individuals and are widely applicable across stigmatized traits and vulnerable communities.

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7. Oya M, Matsuoka K, Kubota M, Fujino J, Tei S, Takahata K, Tagai K, Yamamoto Y, Shimada H, Seki C, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Sugihara G, Obata T, Zhang MR, Suhara T, Nakamura M, Kato N, Takado Y, Takahashi H, Higuchi M. Increased glutamate and glutamine levels and their relationship to astrocytes and dopaminergic transmissions in the brains of adults with autism. Sci Rep;2023 (Jul 19);13(1):11655.

Increased excitatory neuronal tones have been implicated in autism, but its mechanism remains elusive. The amplified glutamate signals may arise from enhanced glutamatergic circuits, which can be affected by astrocyte activation and suppressive signaling of dopamine neurotransmission. We tested this hypothesis using magnetic resonance spectroscopy and positron emission tomography scan with (11)C-SCH23390 for dopamine D1 receptors in the anterior cingulate cortex (ACC). We enrolled 18 male adults with high-functioning autism and 20 typically developed (TD) male subjects. The autism group showed elevated glutamate, glutamine, and myo-inositol (mI) levels compared with the TD group (p = 0.045, p = 0.044, p = 0.030, respectively) and a positive correlation between glutamine and mI levels in the ACC (r = 0.54, p = 0.020). In autism and TD groups, ACC D1 receptor radioligand binding was negatively correlated with ACC glutamine levels (r =  - 0.55, p = 0.022; r =  - 0.58, p = 0.008, respectively). The enhanced glutamate-glutamine metabolism might be due to astroglial activation and the consequent reinforcement of glutamine synthesis in autistic brains. Glutamine synthesis could underly the physiological inhibitory control of dopaminergic D1 receptor signals. Our findings suggest a high neuron excitation-inhibition ratio with astrocytic activation in the etiology of autism.

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8. Serrano F, Guffey D, Shekerdemian L, Noll L, Voigt RG, Monteiro S. Early identification of autism spectrum disorder in children with CHD attending a Cardiac Developmental Outcomes Program. Cardiol Young;2023 (Jul 19):1-6.

OBJECTIVE: To determine the prevalence and timing of autism spectrum disorder diagnosis in a cohort of congenital heart disease (CHD) patients receiving neurodevelopmental follow-up and identify associated risk factors. METHOD: Retrospective single-centre observational study of 361 children undergoing surgery for CHD during the first 6 months of life. Data abstracted included age at autism spectrum disorder diagnosis, child and maternal demographics, and medical history. RESULTS: Autism spectrum disorder was present in 9.1% of children with CHD, with a median age at diagnosis of 34 months and 87.9% male. Prematurity, history of post-operative extracorporeal membrane oxygenation, and seizures were higher among those with autism (p = 0.013, p = 0.023, p = 0.001, respectively). Infants with autism spectrum disorder were older at the time of surgery (54 days vs 13.5 days, p = 0.002), and infants with surgery at ≥ 30 days of age had an increased risk of autism spectrum disorder (OR 2.31; 95% CI =1.12, 4.77, p = 0.023). On multivariate logistic regression analysis, being male (OR 4.85, p = 0.005), surgery ≥ 30 days (OR 2.46, p = 0.025), extracorporeal membrane oxygenation (OR 4.91, p = 0.024), and seizures (OR 4.32, p = 0.003) remained associated with increased odds for autism spectrum disorder. Maternal age, race, ethnicity, and surgical complexity were not associated. CONCLUSIONS: Children with CHD in our cohort had more than three times the risk of autism spectrum disorder and were diagnosed at a much earlier age compared to the general population. Several factors (male, surgery at ≥ 30 days, post-operative extracorporeal membrane oxygenation, and seizures) were associated with increased odds of autism. These findings support the importance of offering neurodevelopmental follow-up after cardiac surgery in infancy.

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9. Sheldrick RC, Hooker JL, Carter AS, Feinberg E, Croen LA, Kuhn J, Slate E, Wetherby AM. The influence of loss to follow-up in autism screening research: Taking stock and moving forward. J Child Psychol Psychiatry;2023 (Jul 19)

BACKGROUND: How best to improve the early detection of autism spectrum disorder (ASD) is the subject of significant controversy. Some argue that universal ASD screeners are highly accurate, whereas others argue that evidence for this claim is insufficient. Relatedly, there is no clear consensus as to the optimal role of screening for making referral decisions for evaluation and treatment. Published screening research can meaningfully inform these questions-but only through careful consideration of children who do not complete diagnostic follow-up. METHODS: We developed two simulation models that re-analyze the results of a large-scale validation study of the M-CHAT-R/F by Robins et al. (2014, Pediatrics, 133, 37). Model #1 re-analyzes screener accuracy across six scenarios, each reflecting different assumptions regarding loss to follow-up. Model #2 builds on this by closely examining differential attrition at each point of the multi-step detection process. RESULTS: Estimates of sensitivity ranged from 40% to 94% across scenarios, demonstrating that estimates of accuracy depend on assumptions regarding the diagnostic status of children who were lost to follow-up. Across a range of plausible assumptions, data also suggest that children with undiagnosed ASD may be more likely to complete follow-up than children without ASD, highlighting the role of clinicians and caregivers in the detection process. CONCLUSIONS: Using simulation modeling as a quantitative method to examine potential bias in screening studies, analyses suggest that ASD screening tools may be less accurate than is often reported. Models also demonstrate the critical importance of every step in a detection process-including steps that determine whether children should complete an additional evaluation. We conclude that parent and clinician decision-making regarding follow-up may contribute more to detection than is widely assumed.

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10. Sia IKM, Kang YQ, Lai PL, Mahesh M, Chong SC. Parent coaching via telerehabilitation for young children with autism spectrum disorder (ASD): study protocol for a randomised controlled trial. Trials;2023 (Jul 19);24(1):462.

BACKGROUND: Early parent-implemented intervention enhances parent-child interaction and improves language skills in children with autism spectrum disorders (ASD). Parent coaching is often delivered as standard care for children with ASD, where parents are taught to apply strategies in their child’s play activities and daily routines to achieve the prior stated goals. However, the ability to conduct parent coaching in physical in-clinic sessions is limited by resource constraints such as clinic space and therapist manpower. Furthermore, parents may experience difficulties with the generalisation of intervention strategies taught in the clinic to their natural home environments. In this study, telerehabilitation is evaluated as an alternative platform to deliver parent coaching for parent-implemented interventions to children with ASD in their homes. METHODS: This parallel-group, randomised, controlled, non-inferiority trial aims to evaluate the effectiveness of parent coaching delivered through video conferencing (telerehabilitation) versus in-clinic (standard care) delivery. Children aged 15 to 48 months (n = 200) who meet the cut-off score for ASD on the Autism Diagnostic Observation Schedule-2 are eligible. Parent-child dyads are randomly assigned to receive parent coaching either through weekly telerehabilitation or standard care. The primary outcome is the child’s development as measured by the subscale and composite scores of a standardised developmental assessment. Primary analysis will determine if the lower boundary of the 95% confidence interval for the mean difference in pre-post change between groups exceeds -5 (the non-inferiority margin). Secondary outcomes are the child’s adaptive behaviour, parent-child interaction, parental stress, and family quality of life. Outcomes will be measured pre-intervention, midterm, and post-intervention. Secondary analysis will determine if there is any between-group difference for the pre-post change in scores at the 5% significance level using two-sample t-test or Mann-Whitney U test. DISCUSSION: As a randomised controlled trial of a moderately large scale, this study will contribute to the limited existing literature on the effectiveness of parent coaching via telerehabilitation for early parent-implemented intervention for children with ASD. The results of this study will provide insights on whether telerehabilitation is comparable to conventional in-clinic parent coaching in enhancing parent-child interaction and improving language skills. TRIAL REGISTRATION: ClinicalTrials.gov NCT05792449. Registered (retrospectively) on 31 March 2023.

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11. Woolard A, Benders T, Campbell LE, Whalen OM, Mallise C, Karayanidis F, Barker D, Murphy VE, Tait J, Gibson P, Korostenski L, Lane AE. The relationship between pitch contours in infant-directed speech and early signs of autism in infancy. Infant Behav Dev;2023 (Jul 19);72:101860.

PURPOSE: Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development. However, little research has examined pitch contours towards infants with socio-communication and language differences, such as those displaying early signs of autism spectrum disorder (autism). This study aimed to explore the association of infant autism signs and pitch contours used by mothers with their 12-month-old infants. METHOD: Mother-infant dyads (n = 109) were recruited from the University of Newcastle BabyLab. Parent-infant dyads completed a 15-min interaction, from which a total of 36,128 pitch contours were measured and correlated with infant autism signs. Infant autism signs were assessed via parent-report (First Year Inventory; Reznick et al., 2007). A subset of high-risk infants (admitted to a neonatal intensive care unit, n = 29) also received an observation-based assessment (Autism Detection in Early Childhood; Young & Nah, 2016). RESULTS: Mothers used fewer sinusoidal contours when they rated their infant as displaying more autism signs (r(s) = - .30, p = .004) and more autism-related sensory regulation issues (r(s) = - .31, p = .001). Mothers used fewer flat contours if their infant displayed more researcher-rated autism signs (r(2) = - .39, p = .04). CONCLUSIONS: This study provides the early evidence that maternal pitch contours in IDS are related to early autism signs in infancy. If our findings are replicated in follow up studies where infants are followed to diagnosis, maternal IDS may be an important element of future early intervention protocols that focus on communication for infants with risk for autism.

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12. Yoshikawa Y, Muramatsu T, Sakai K, Haraguchi H, Kudo A, Ishiguro H, Mimura M, Kumazaki H. A new group-based online job interview training program using computer graphics robots for individuals with autism spectrum disorders. Front Psychiatry;2023;14:1198433.

INTRODUCTION: Job interviews are a major barrier to employment for individuals with autism spectrum disorders (ASD). During the coronavirus pandemic, establishing online job interview training at home was indispensable. However, many hurdles prevent individuals with ASD from concentrating on online job interview training. To facilitate the acquisition of interview skills from home for individuals with ASD, we developed a group interview training program with a virtual conferencing system (GIT-VICS Program) that uses computer graphics (CG) robots. METHODS: This study investigated the feasibility of the GIT-VICS Program in facilitating skill acquisition for face-to-face job interviews in pre-post measures. In the GIT-VICS Program, five participants were grouped and played the roles of interviewees (1), interviewers (2), and human resources (2). They alternately practiced each role in GIT-VICS Program sessions conducted over 8 or 9 days over three consecutive weeks. Before and after the GIT-VICS Program, the participants underwent a mock face-to-face job interview with two experienced human interviewers (MFH) to evaluate its effect. RESULTS: Fourteen participants completed the trial procedures without experiencing any technological challenges or distress that would have led to the termination of the session. The GIT-VICS Program improved their job interview skills (verbal competence, nonverbal competence, and interview performance). DISCUSSION: Given the promising results of this study and to draw clear conclusions about the efficacy of CG robots for mock online job interview training, future studies adding appropriate guidance for manner of job interview by experts are needed.

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13. Zessis NR, Peters SW, Samet JD, Parzen-Johnson S, Russo LT, Samady W, Stephen R. Unusual Presentation of Pediatric Scurvy: A Necrotic Gastrostomy Tube Site in a 14-Year-Old Boy. Am J Case Rep;2023 (Jul 19);24:e940770.

BACKGROUND Despite being considered a disease of the past, pediatric scurvy is increasingly reported in developed countries, especially among children with autism spectrum disorder, developmental delays, or a restrictive diet. Pediatric patients typically present with lower extremity pain or refusal to walk. This case study features an atypical presentation of scurvy in a non-ambulatory patient. CASE REPORT A 14-year-old boy with arthrogryposis multiplex congenita displayed a late-stage scurvy symptom: a necrotic gastrostomy tube site, indicative of poor wound healing due to vitamin C deficiency. The usual telltale symptoms of scurvy were camouflaged due to his non-ambulatory status, which may have contributed to a delayed presentation. Nevertheless, a comprehensive clinical evaluation, incorporating diet history, gingival symptoms, petechiae, and characteristic radiological signs, eventually led to the correct diagnosis. Although acute osteomyelitis was initially suspected, it was subsequently ruled out. Upon initiation of vitamin C therapy, the patient’s symptoms subsided within a few days, and the necrotic tissue surrounding the gastrostomy tube healed completely within two weeks. CONCLUSIONS The highlighted case underscores the importance of including scurvy in the differential diagnosis for pediatric patients with lower extremity pain without fever. A detailed dietary history focusing on vitamin C intake is crucial during clinical evaluation. Early initiation of vitamin C therapy, when scurvy is suspected, may prevent unnecessary and extensive diagnostic workup for other potential causes, offering timely relief to the patient.

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