1. Blackburn C, Tueres M, Sandanayake N, Roberts J, Sutherland R. A systematic review of interventions for echolalia in autistic children. Int J Lang Commun Disord;2023 (Jul 18)

INTRODUCTION: Echolalia, the repetition of others’ speech, is a common observation in autistic people. Research has established that echolalia is functional and meaningful for many; however, some clinicians and researchers continue to characterise it as pathological and in need of reduction. The aim of this systematic review was to understand the range and impact of interventions for echolalia in autistic children. METHOD: A systematic search was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 15 studies met predetermined inclusion criteria. Screening, data extraction and quality rating using the Scientific Merit Rating Scale (SMRS) were performed in duplicate. RESULTS: Ten interventions across 15 papers were found. Results indicated that interventions generally decreased levels of echolalia. However, there were considerable inconsistencies in the definitions and conceptualisations of echolalia, administration, generalisation techniques and the measures used. The quality of the studies was very low. CONCLUSION: Interventions for echolalia vary widely in terms of administration and measurement. There is limited consensus on the definition of echolalia among the reviewed studies, and no evidence that echolalia is recognised as functional or meaningful to the autistic children. Further, the lack of methodological rigour makes it difficult to draw clinical conclusions about the interventions. WHAT THIS PAPER ADDS: What is already known Echolalia is the immediate or delayed repetition of others’ speech and is a common observation in autistic children and in some older autistic people. While research and practice has established that echolalia is a functional and meaningful form of communication, particularly for those first developing spoken communication, some clinicians and researchers continue to characterise it as problematic and suggest that echolalia should be reduced or eliminated. What this study adds We systematically searched the literature about echolalia interventions to try to find out about the types of interventions that aim to reduce or eliminate echolalia. We found 15 studies on this topic. The way they defined echolalia was varied, and there was a range of interventions researched. None of the research papers recognised echolalia as functional or meaningful and the quality of the research was very low. What are the potential or actual clinical implications of this work? Clinicians, families and researchers should think carefully and critically about suggesting any programs or supports that aim to reduce echolalia as no recommendations can be drawn from the research we studied. Echolalia should be considered functional, and efforts made to understand the meaning and purpose of echolalic speech.

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2. Fong S, Carollo A, Ashour R, Dimitriou D, Gianluca E. Identifying major research themes in the literature on developmental disabilities in Middle Eastern countries: A scientometric review from 1962 to 2023. Res Dev Disabil;2023 (Jul 18);140:104551.

Developmental disabilities have been widely studied in higher-income countries. However, most individuals with these conditions live in low- and middle-income countries and they are reportedly under-represented in the scientific literature. To tackle this issue, previous research has provided insight into the thematic developments in the research on developmental disabilities in Africa by means of a scientometric approach to reviews. The current work aims to extend the scientometric approach to investigate the main interests in the literature on developmental disabilities conducted in Middle Eastern countries. A total of 1110 documents were retrieved from Scopus and their patterns of co-citation were analysed with the CiteSpace software. Research in Developmental Disabilities emerged to be the main source in the sample of downloaded documents. Furthermore, a total of six main thematic domains and the four most impactful documents in the literature were identified. Results showed that research on developmental disabilities in the Middle East has been mainly focused on uncovering the genetic basis of this group of conditions. The study of clinical profiles, diagnosis, management, and treatment of individuals with developmental disabilities have been so far under-investigated and represents material for future studies.

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3. Gao CJ, Yang F, Wu B, Liang Y, Qin YY, Guo Y. A pilot study of several environmental endocrine disrupting chemicals in children with autism spectrum disorder in south China. Environ Monit Assess;2023 (Jul 18);195(8):964.

Autism spectrum disorders (ASD) is a group of heterogeneous neurodevelopmental disorders. Evidence has implied that environmental pollutants are important factors related to ASD. In this study, several environmental endocrine-disrupting chemicals, including parabens, benzophenone-type ultraviolet filters, hydroxyl polycyclic aromatic hydrocarbons, triclosan and tetrabromobisphenol A were analyzed in blood plasma in ASD children (n = 34) and the control children (n = 28). The results showed that parabens were the most concentrated chemicals (2.18 ng/mL, median value), followed by hydroxyl polycyclic aromatic hydrocarbons (0.73 ng/mL), benzophenone-type ultraviolet filters (0.14 ng/mL), triclosan (0.13 ng/mL) and tetrabromobisphenol A (0.03 ng/mL). ASD children accumulated significantly lower 2-hydroxy-4-methoxybenzophenone, 2,4-dihydroxybenzophenone, 4-hydroxybenzophenone and triclosan but higher 2-hydroxyphenanthrene and tetrabromobisphenol A than the control children (0.02/0.09 ng/mL of 2-hydroxy-4-methoxybenzophenone, p < 0.05; 0.04/0.07 ng/mL of 2,4-dihydroxybenzophenone, p < 0.05; 0.03/0.04 ng/mL of 4-hydroxybenzophenone, p < 0.05; 0.13/1.22 ng/mL of triclosan, p < 0.01; 0.03 ng/mL/not detected of 2-hydroxyphenanthrene, p < 0.05; 0.03/0.004 ng/mL of tetrabromobisphenol A, p < 0.05). Gender differences in certain environmental endocrine-disrupting chemicals were evident, and the differences were more inclined toward boys. Positive associations between 2-hydroxy-4-methoxybenzophenone and triclosan, and tetrabromobisphenol A and 2-hydroxyphenanthrene were found in ASD boys. Binary logistic regression analysis showed that the adjusted odds ratio value of 2-hydroxyphenanthrene in ASD boys was 11.0 (1.45-84.0, p < 0.05). This is the first pilot study on multiple environmental endocrine-disrupting chemicals in children with ASD in China.

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4. Habib MZ, Elnahas EM, Aboul-Ela YM, Ebeid MA, Tarek M, Sadek DR, Negm EA, Abdelhakam DA, Aboul-Fotouh S. Risperidone impedes glutamate excitotoxicity in a valproic acid rat model of autism: Role of ADAR2 in AMPA GluA2 RNA editing. Eur J Pharmacol;2023 (Jul 15):175916.

Several reports indicate a plausible role of calcium (Ca(2+)) permeable AMPA glutamate receptors (with RNA hypo-editing at the GluA2 Q/R site) and the subsequent excitotoxicity-mediated neuronal death in the pathogenesis of a wide array of neurological disorders including autism spectrum disorder (ASD). This study was designed to examine the effects of chronic risperidone treatment on the expression of adenosine deaminase acting on RNA 2 (Adar2), the status of AMPA glutamate receptor GluA2 editing, and its effects on oxidative/nitrosative stress and excitotoxicity-mediated neuronal death in the prenatal valproic acid (VPA) rat model of ASD. Prenatal VPA exposure was associated with autistic-like behaviors accompanied by an increase in the apoptotic marker « caspase-3 » and a decrease in the antiapoptotic marker « BCL2 » alongside a reduction in the Adar2 relative gene expression and an increase in GluA2 Q:R ratio in the hippocampus and the prefrontal cortex. Risperidone, at doses of 1 and 3 mg, improved the VPA-induced behavioral deficits and enhanced the Adar2 relative gene expression and the subsequent GluA2 subunit editing. This was reflected on the cellular level where risperidone impeded VPA-induced oxidative/nitrosative stress and neurodegenerative changes. In conclusion, the present study confirms a possible role for Adar2 downregulation and the subsequent hypo-editing of the GluA2 subunit in the pathophysiology of the prenatal VPA rat model of autism and highlights the favorable effect of risperidone on reversing the RNA editing machinery deficits, giving insights into a new possible mechanism of risperidone in autism.

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5. Hyman SL, Kroening ALH. Diagnosing Autism Spectrum Disorders in Primary Care: When You Know, You Know. Pediatrics;2023 (Jul 18)

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6. Lasheras I, Real-López M, Santabárbara J. Prevalence of gastrointestinal symptoms in autism spectrum disorder: A meta-analysis. An Pediatr (Engl Ed);2023 (Jul 18)

INTRODUCTION: A high prevalence of gastrointestinal (GI) symptoms has been described in children and adolescents with autism spectrum disorder (ASD). In addition, there is evidence that presence of GI symptoms is associated to greater severity of ASD. However, the frequency of GI symptoms in children and adolescents with ASD varies widely across studies, and their true prevalence is unknown. Therefore, the objective of this study was to estimate the prevalence of GI symptoms in children and adolescents with ASD. MATERIAL AND METHOD: We conducted a meta-analysis following the PRISMA guidelines. We carried out a rapid systematic search for recent clinical and observational studies published from August 2012 in PubMed. The statistical analyses were performed with the software R. RESULTS: Of 91 potentially eligible articles, only 8 met our inclusion criteria. The prevalence of GI symptoms ranged between 0% and 69%, with an estimated general prevalence of 33% (95% CI, 13%-57%), higher than that reported by a previous meta-analysis for the general paediatric population. This difference is even greater in the specific comparison of studies that applied the paediatric version of the ROME III questionnaire (QPGS-ROME III). CONCLUSIONS: The results confirmed the hypothesis that there is a higher prevalence of functional GI symptoms in paediatric patients with ASD compared to their neurotypical peers.

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7. Liu J, Wang Z, Qin H, Wang Y, Deng J, Li H, Xu Q, Xu X, Liu H. Social Recognition of Joint Attention Cycles in Children with Autism Spectrum Disorders. IEEE Trans Biomed Eng;2023 (Jul 18);Pp

OBJECTIVE: Autism Spectrum Disorders (ASD) are characterized by impairments in joint attention (JA) comprising two components: responding to JA (RJA) and initiating JA (IJA). RJA and IJA are considered two interrelated aspects of JA, related to different stages of infant development. While recent technologies have been used to characterize RJA emerging in earlier childhood, only a limited number of studies have attempted to explore IJA, which progressively becomes evident as a hallmark of ASD. This study aims to achieve the social recognition of both RJA and IJA by vision-based human behavior perception through a multi-modal framework automatically and comprehensively. METHODS: The first three layers of this framework leverage localization, feature extraction, and activity recognition. On this basis, three critical activities in JA are recognized: attention estimation, spontaneous pointing, and showing actions. Then different behaviors are linked through the fourth layer, semantic interpretation, to model the JA event. The proposed framework is evaluated on experiments of four groups: 7 children with ASD, 5 children with mental retardation (MR), 5 children with developmental language disorder (DLD), and 3 typically developed children (TD). RESULTS: Experimental results compared with human codings demonstrate recognition reliability with an intra-class coefficient of 0.959. In addition, statistical analysis suggests significant group difference and correlations. CONCLUSIONS: The multi-modal human behavior perception-based framework is a feasible solution for the recognition of joint attention in unconstrained environments. SIGNIFICANCE: Thus the proposed approach has the potential to improve the clinical diagnosis of autism by offering quantitative monitoring and statistical analysis.

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8. McNally Keehn R, Swigonski N, Enneking B, Ryan T, Monahan P, Martin AM, Hamrick L, Kadlaskar G, Paxton A, Ciccarelli M, Keehn B. Diagnostic Accuracy of Primary Care Clinicians Across a Statewide System of Autism Evaluation. Pediatrics;2023 (Jul 18)

OBJECTIVES: To evaluate the diagnostic accuracy of the Early Autism Evaluation (EAE) Hub system, a statewide network that provides specialized training and collaborative support to community primary care providers in the diagnosis of young children at risk for autism spectrum disorder (ASD). METHODS: EAE Hub clinicians referred children, aged 14 to 48 months, to this prospective diagnostic study for blinded follow-up expert evaluation including assessment of developmental level, adaptive behavior, and ASD symptom severity. The primary outcome was agreement on categorical ASD diagnosis between EAE Hub clinician (index diagnosis) and ASD expert (reference standard). RESULTS: Among 126 children (mean age: 2.6 years; 77% male; 14% Latinx; 66% non-Latinx white), 82% (n = 103) had consistent ASD outcomes between the index and reference evaluation. Sensitivity was 81.5%, specificity was 82.4%, positive predictive value was 92.6%, and negative predictive value was 62.2%. There was no difference in accuracy by EAE Hub clinician or site. Across measures of development, there were significant differences between true positive and false negative (FN) cases (all Ps < .001; Cohen's d = 1.1-1.4), with true positive cases evidencing greater impairment. CONCLUSIONS: Community-based primary care clinicians who receive specialty training can make accurate ASD diagnoses in most cases. Diagnostic disagreements were predominately FN cases in which EAE Hub clinicians had difficulty differentiating ASD and global developmental delay. FN cases were associated with a differential diagnostic and phenotypic profile. This research has significant implications for the development of future population health solutions that address ASD diagnostic delays.

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9. Parent H, Ferranti A, Niswender C. Trofinetide: a pioneering treatment for Rett syndrome. Trends Pharmacol Sci;2023 (Jul 15)

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10. Pisula E, Pisula W. Back to Actual Behavior – A Modest Proposal on the Example of Exploratory Behavior in Children on the Autism Spectrum. Integr Psychol Behav Sci;2023 (Jul 18)

Autism spectrum is characterized by difficulties in social communication and interactions and limited, restricted patterns of behavior, interests, and activity. It is diagnosed and described on the basis of behavioral characteristics. Therefore, behavior research plays a critical role in better understanding the functioning of this group of children. Studies on their interests and curiosity take mainly the form of experiments on visual and object exploration. We argue that important aspects of behavior might be neglected within these studies and propose to refine the approach by incorporating the achievements of classic ethology, contemporary measurement and analytical tools, and the theory of integrative levels. We conclude with an outline of the proposed approach in a short list of major methodological postulates.

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