1. Bekheet MHY, Mansour LA, Elkaffas RH, Kamel MA, Elmonem MA. Serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as potential biomarkers in children with Fragile-X syndrome: A cross sectional study. Clin Biochem;2023 (Oct 4);121-122:110659.

INTRODUCTION: Fragile-X syndrome(FXS) is a neurological disease caused by abnormal repeats in the 5’untranslated region of the FMR1 gene leading to a defective fragile-X-messenger-ribonucleoprotein-1 (FMRP). Although relatively common in children, it is usually under-diagnosed especially in developing countries where genetic screening is not routinely practiced. So far, FXS lacks a laboratory biomarker that can be used for screening, severity scoring or therapeutic monitoring of potential new treatments. METHODS: 110 subjects were recruited; 80 male children with suspected FXS and 30 matched healthy children. We evaluated the clinical utility of serum matrix metalloproteinase-9(MMP9) and amyloid-beta protein precursor(APP) as potential biomarkers for FXS. RESULTS: Out of 80 suspected children, 14 had full mutation, 8 had the premutation and 58 children had normal genotypes. No statistically-significant difference was detected between children with different genotypes concerning age of onset(P = 0.658), main clinical presentation(P = 0.388), clinical severity-score(P = 0.799), patient’s disease-course(P = 0.719) and intellectual disability(P = 0.351). Both MMP9 and APP showed a statistically significant difference when comparing different genotype subgroups(P = 0.019 and < 0.001, respectively). Clinically, MMP9 levels were highest in children presenting with language defects, while APP was highest in children with neurodevelopmental delay. In receiver operating curve analysis, comparing full and premutation with the normal genotype group, MMP9 has an area-under-the-curve of 0.701(95 % CI 0.557-0.845), while APP was marginally better at 0.763(95 % CI 0.620-0.906). When combined together, elevated MMP9 or APP had excellent sensitivity > 95 % for picking-up FXS cases in the clinical setting. CONCLUSIONS: Screening for circulating biomarkers in the absence of FXS genetic diagnosis is justified. Our study is the first to evaluate both MMP9 and APP in FXS suspected children in a clinical setting and to assess their correlation with disease presentation and severity.

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2. Callejo DR, Boets B. A Systematic Review on Speech-in-noise Perception in Autism. Neurosci Biobehav Rev;2023 (Sep 27):105406.

Individuals with autism spectrum disorder (ASD) exhibit atypical speech-in-noise (SiN) perception, but the scope of these impairments has not been clearly defined. We conducted a systematic review of the behavioural research on SiN perception in ASD, using a comprehensive search strategy across databases (Embase, Pubmed, Web of Science, APA PsycArticles, LLBA, clinicaltrials.gov and PsyArXiv). We withheld 20 studies that generally revealed intact speech perception in stationary noise, while impairments in speech discrimination were found in temporally modulated noise, concurrent speech, and audiovisual speech perception. An association with auditory temporal processing deficits, exacerbated by suboptimal language skills, is shown. Speech-in-speech perception might be further impaired due to deficient top-down processing of speech. Further research is needed to address remaining challenges and gaps in our understanding of these impairments, including the developmental aspects of SiN processing in ASD, and the impact of gender and social attentional orienting on this ability. Our findings have important implications for improving communication in ASD, both in daily interactions and in clinical and educational settings.

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3. Ghazala F, Hamilton R, Mansfield D, Millar E. 6 Restricted diet causing irreversible visual impairment in children with autistic spectrum disorder: case series and review. BMJ Open Ophthalmol;2023 (Oct);8(Suppl 3):A2.

Though micronutrient deficiency is recognized to cause visual system dysfunction, avoidant/restrictive food intake disorder (ARFID) has been poorly described in relation to this.Review of 18 previously published similar cases highlights the importance of identifying other micronutrient deficiencies, even when vitamin A deficiency accounts for the presenting features. We present four patients with permanent visual loss as a result of highly restricted diets due to avoidant/restrictive food intake disorder (ARFID), and with autistic spectrum disorder (ASD).The four cases reported here make a total of 22 reported cases of visual impairment due to ARFID-like restricted diets in boys with ASD. The severity of ASD varied widely across the 22 cases, but all had extremely restricted diets, in some cases tolerating only one or two food items. The most avoided food groups in children with ASD and food selectivity have been reported from the USA as vegetables, fruit, dairy and protein, with the most preferred food items being bread, chicken, cereal and yoghurt. In the 22 cases reviewed or reported here, tolerated foods tended to be predominately carbohydrate based, with dry or crunchy textures and beige or pale colouring, i.e. French fries, potato waffles, potato chips (crisps), rice, white bread, bagels, biscuits or cookies.This case series and review highlights the need for heightened vigilance for visual problems in individuals with ASD-related ARFID and early and complete assessment of micronutrient deficiency.

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4. Glaves KJ, Kolman L. Gender diversity in autistic clients: an ethical perspective. Front Psychiatry;2023;14:1244107.

Autonomy and dignity are key ethical principles in psychiatric and psychological codes of ethics. Yet, when working with autistic individuals who are transgender/gender non-conforming (TGNC), non-autistic and cisgender clinicians can unintentionally take away client dignity and autonomy by disbelieving or stigmatizing clients’ gender identities. Lack of awareness or discomfort around autism and gender dysphoria can lead clinicians to assumptions and interventions that damage both client rapport and client mental health; discouraging clients from being honest with clinicians about their mental health, and potentially leading to harm. Clinicians must take an intersectional view of their autistic clients’ gender identities to reduce stigma and recognize the needs of the whole person. Facilitating access to gender-affirming care is an important part of caring for TGNC clients, including those who are autistic. The authors will discuss the ethical imperative to help autistic clients access gender-affirming care, while discussing common concerns clinicians have when helping autistic clients access this care, as well as the need to believe and support autistic clients when they share their gender identities with clinicians.

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5. Ismail E, Gad W, Hashem M. A hybrid Stacking-SMOTE model for optimizing the prediction of autistic genes. BMC Bioinformatics;2023 (Oct 6);24(1):379.

PURPOSE: Autism spectrum disorder(ASD) is a disease associated with the neurodevelopment of the brain. The autism spectrum can be observed in early childhood, where the symptoms of the disease usually appear in children within the first year of their life. Currently, ASD can only be diagnosed based on the apparent symptoms due to the lack of information on genes related to the disease. Therefore, in this paper, we need to predict the largest number of disease-causing genes for a better diagnosis. METHODS: A hybrid stacking ensemble model with Synthetic Minority Oversampling TEchnique (Stack-SMOTE) is proposed to predict the genes associated with ASD. The proposed model uses the gene ontology database to measure the similarities between the genes using a hybrid gene similarity function(HGS). HGS is effective in measuring the similarity as it combines the features of information gain-based methods and graph-based methods. The proposed model solves the imbalanced ASD dataset problem using the Synthetic Minority Oversampling Technique (SMOTE), which generates synthetic data rather than duplicates the data to reduce the overfitting. Sequentially, a gradient boosting-based random forest classifier (GBBRF) is introduced as a new combination technique to enhance the prediction of ASD genes. Moreover, the GBBRF classifier combined with random forest(RF), k-nearest neighbor, support vector machine(SVM), and logistic regression(LR) to form the proposed Stacking-SMOTE model to optimize the prediction of ASD genes. RESULTS: The proposed Stacking-SMOTE model is evaluated using the Simons Foundation Autism Research Initiative (SFARI) gene database and a set of candidates ASD genes.The results of the proposed model-based SMOTE outperform other reported undersampling and oversampling techniques. Sequentially, the results of GBBRF achieve higher accuracy than using the basic classifiers. Moreover, the experimental results show that the proposed Stacking-SMOTE model outperforms the existing ASD prediction models with approximately 95.5% accuracy. CONCLUSION: The proposed Stacking-SMOTE model demonstrates that SMOTE is effective in handling the autism imbalanced data. Sequentially, the integration between the gradient boosting and random forest classifier (GBBRF) support to build a robust stacking ensemble model(Stacking-SMOTE).

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6. Kilmer M, Hong M, Shah E. Relationship between caregiver adverse childhood events and age of autism spectrum diagnosis. J Pediatr Nurs;2023 (Oct 3)

BACKGROUND: The age at which children are diagnosed with autism spectrum disorder (ASD) has not significantly decreased in the past 20 years. Adverse childhood events (ACEs) experienced by caregivers of autistic children may predict delays in caregivers attending ASD diagnostic evaluations, negatively impacting the age at which the child is diagnosed with ASD. The purpose of this study was to further explore the caregiver delay response by analyzing recurring events common in caregivers of children at risk for ASD. METHODS: We used a quantitative research design with convenience sampling to categorize caregivers of children referred for an ASD diagnostic evaluation into three groups based on their ACEs score and medical history. FINDINGS: A higher percentage of caregivers with four or more ACEs compared to the national average was noted. Parental separation or divorce, verbal aggression, emotional abuse, and parental alcohol or substance abuse occurred most frequently, and the latter predicted a prolonged time in attending the diagnostic evaluation. DISCUSSION: ACEs experienced by caregivers of children with ASD may delay the age of ASD diagnosis. Further investigation into the effect of ACEs on caregivers’ mental health status and executive functioning is warranted to develop best practice for assisting caregivers in ASD recognition, diagnosis, and care management. APPLICATION TO PRACTICE: Clinicians should consider caregiver ACEs score when referring a child for a diagnostic developmental evaluation. Resources to address caregiver mental health needs should be provided at the onset of the referral process to increase the likelihood of caregiver adherence.

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7. Liang X, Haegele JA, Healy S, Tse AC, Qiu H, Zhao S, Li C. Age-Related Differences in Accelerometer-Assessed Physical Activity and Sleep Parameters Among Children and Adolescents With and Without Autism Spectrum Disorder: A Meta-Analysis. JAMA Netw Open;2023 (Oct 2);6(10):e2336129.

IMPORTANCE: Physical inactivity and sleep disorders are health-related concerns of youth with autism spectrum disorder (ASD) that can persist from childhood and exacerbate core symptoms. However, evidence on group differences in accelerometer-assessed physical activity and sleep parameters among youth with and without ASD is inconclusive and age-specific effects remain unclear. OBJECTIVE: To synthesize evidence on group differences in accelerometer-assessed physical activity and sleep parameters and examine the moderating effects of age between children and adolescents with and without ASD. DATA SOURCES: American Psychological Association PsychInfo, CINAHL Ultimate, ERIC, MEDLINE, SPORTDiscus with Full Text, and Web of Science from inception to February 2023. STUDY SELECTION: Two independent reviewers screened articles for observational research comparing accelerometer-assessed physical activity levels and sleep parameters in children and adolescents with and without ASD. DATA EXTRACTION AND SYNTHESIS: After developing a standardized form, relevant data were extracted. Quality was assessed using the McMaster Critical Review Form and rated based on sample, measurement, and analyses. The Preferring Reporting Items for Systematic Reviews and Meta-Analyses guideline was followed. MAIN OUTCOMES AND MEASURES: The primary outcomes were actigraphy-measured MVPA, sleep latency, sleep efficiency, total sleep time, and wake after sleep onset. Data were pooled using a random-effects model. Hedges g was used to express the effect size index. Meta-regression on age was also performed to investigate the potential moderating effects. RESULTS: Collectively, 1757 studies were initially identified. Among 104 articles that were assessed, 28 were included, comprising moderate-to-vigorous physical activity (MVPA), 4 sleep parameters, and 73 independent effect sizes. A total of 28 studies were included in analysis, comprising 805 children and adolescents with ASD and 1573 without ASD (age range, 5.1-16.9 years). Compared with peers without ASD, children and adolescents with ASD had a small-to-moderate difference in MVPA (g = -0.450; 95% CI, -0.622 to -0.277), total sleep time (g = -0.332; 95% CI, -0.574 to -0.090), sleep efficiency (g = -0.424; 95% CI, -0.645 to -0.203), and a moderate difference in sleep latency (g = 0.514; 95% CI, 0.351 to 0.677) measured by actigraphy. Children and adolescents with ASD experienced an age-related decline in moderate-to-vigorous physical activity (β = -0.049 [95% CI, -0.097 to -0.001]; P = .045), indicating that younger children with ASD showed a smaller difference in MVPA compared with their peers without ASD. Moderating effects of age on sleep parameters were not significant. CONCLUSIONS AND RELEVANCE: The findings of this meta-analysis suggested that children and adolescents with ASD had lower MVPA and worse sleep than peers without ASD, and the difference in MVPA varied with age. These findings reinforce the need for public health initiatives aimed at reducing these group disparities.

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8. Lord C, Wilson RB. Digital phenotyping could help detect autism. Nat Med;2023 (Oct 5)

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9. Maxey M, Beckert TE, Meter D, Landon T. Psychosocial development measures modification for adolescents with intellectual and developmental disabilities. J Adolesc;2023 (Oct 6)

BACKGROUND: Although diagnosis and identification of IDD is improving, adolescents with IDD receive limited attention in research, particularly concerning their psychosocial development. Measures developed and normed with typically developing populations may not be appropriate for IDD populations and may result in biased assessment. AIM: This study aimed to develop and validate modified psychosocial development assessments for adolescents with intellectual and developmental disabilities (IDD), addressing the absence of such assessments. METHOD: It involved two phases: modifying existing instruments and validating the revised versions. Four stakeholder groups participated: adolescents with IDD, parents, and scholars in adolescent developmental and disabilities. Validation included two groups: neurotypical adolescents completing both measures and IDD adolescents completing modified measures. RESULTS: Confirmatory factor analyses identified the need to adjust or eliminate scales for better understanding by individuals with IDD. The modified instruments provided suitable measures for assessing psychosocial development in adolescents with IDD. DISCUSSION: All the scales allowed for accommodation toward comprehension for those with IDD except for identity formation. Further work is needed to understand the challenges associated with assessing identity formation in adolescents with IDD. The active involvement of and participation from adolescents with IDD and their parents in this research was paramount to understanding their comprehension and needs. CONCLUSION: This study highlights the importance of tailored assessments for accurate measurement of IDD individuals’ development, benefiting the assessment of all adolescents.

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10. Muldoon DM, Gray R. Teaching Receptive Vocabulary to Minimally Verbal Preschoolers With Autism Spectrum Disorder: A Single-Case Multiple Baseline Design. Am J Speech Lang Pathol;2023 (Oct 6):1-12.

PURPOSE: The purpose of this multiple probe design was (a) to investigate whether the use of the match-to-sample (MtS) procedure would result in independent identification of objects and (b) to examine whether the participants could generalize to matching objects and nonidentical pictures. METHOD: Using a nonconcurrent multiple baseline design, three minimally verbal preschoolers with autism spectrum disorder and receptive language impairment were taught to identify common objects using a MtS procedure and physical prompts. Participants were taught to match identical objects to identical pictures. Maintenance checks were completed following mastery of vocabulary for a total of 22 words. Generalization probes were conducted with the objects and nonidentical pictures. Intervention was completed by a speech-language pathologist during typical speech-language pathology sessions. RESULTS: Results illustrated that all of the participants learned to match and generalize the pictures. All were able to independently identify the objects at 1-month follow-up. CONCLUSIONS: MtS and prompting appear to be effective procedures for teaching receptive vocabulary and can be easily implemented by education professionals. Learner profiles varied for the participants in this study and are an important aspect when teaching students with autism spectrum disorder and co-occurring receptive language impairment.

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11. Pruneti C, Coscioni G, Guidotti S. Evaluation of the effectiveness of behavioral interventions for autism spectrum disorders: A systematic review of randomized controlled trials and quasi-experimental studies. Clin Child Psychol Psychiatry;2023 (Oct 6):13591045231205614.

The objective of this research was to assess the efficacy of behavioral therapy interventions in the treatment of autism spectrum disorders (ASD). The study utilized the PubMed and Embase databases to locate randomized controlled trials, quasi-experimental treatment studies, and randomized clinical trial comparisons. The experimental group received treatment based on an applied behavioral approach, such as PECS, DTT, PRT, TEACCH, ESDM, and EIBI. After examining seventeen studies, the researchers found that each type of behavioral intervention had a positive impact. Naturalistic protocols that employed PRT and PECS improved ASD symptoms in general, despite their targeting of particular cognitive domains such as language. ESDM enhanced receptive language, particularly in preschool-aged children. Structured and integrated interventions, like EIBI and TEACCH, improved overall adaptive functioning. Combining DTT with a TEACCH program produced greater benefits in linguistic, affective-social, and personal autonomy domains. However, there is a scarcity of high-quality research available on behavioral interventions for ASD. Further comparative studies are necessary to identify cost-efficient interventions. For example, PRT and PECS significantly improved social communication skills in only 15-40 hours over six months. The authors emphasized the need for continued research and the application of evidence-based interventions in specialized settings.

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12. Sokol DK, Lahiri DK. APPlications of amyloid-β precursor protein metabolites in macrocephaly and autism spectrum disorder. Front Mol Neurosci;2023;16:1201744.

Metabolites of the Amyloid-β precursor protein (APP) proteolysis may underlie brain overgrowth in Autism Spectrum Disorder (ASD). We have found elevated APP metabolites (total APP, secreted (s) APPα, and α-secretase adamalysins in the plasma and brain tissue of children with ASD). In this review, we highlight several lines of evidence supporting APP metabolites’ potential contribution to macrocephaly in ASD. First, APP appears early in corticogenesis, placing APP in a prime position to accelerate growth in neurons and glia. APP metabolites are upregulated in neuroinflammation, another potential contributor to excessive brain growth in ASD. APP metabolites appear to directly affect translational signaling pathways, which have been linked to single gene forms of syndromic ASD (Fragile X Syndrome, PTEN, Tuberous Sclerosis Complex). Finally, APP metabolites, and microRNA, which regulates APP expression, may contribute to ASD brain overgrowth, particularly increased white matter, through ERK receptor activation on the PI3K/Akt/mTOR/Rho GTPase pathway, favoring myelination.

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