1. Abuzaid SMO. Autistic traits as a mediator between visual working memory capacity and enhanced performance in visual-perceptual tasks in children with ASD. Appl Neuropsychol Child;2024 (Mar 7):1-8.

The present study aimed to identify autistic traits as a mediator between visual working memory capacity and enhanced performance in visual-perceptual tasks in children with ASD. One hundred-forty children, ages 4-6 years, participated in this study (mean age = 5.34 ± 4.11, 98 males). They were recruited from Taiba Specialized Centers for the Care of People with Special Needs in Saudi Arabia. A correlational design was used to identify the mediating role of autistic traits in the relationship between visual working memory capacity and enhanced performance in visual-perceptual tasks in children with ASD. The present study developed a theoretical model that incorporated autistic traits as a mediator between visual working memory capacity and enhanced performance in visual-perceptual tasks in children with ASD. The study findings indicate that: (1) A significant positive correlation exists between autistic traits and visual working memory capacity; (2) A significant positive correlation exists between autistic traits and enhanced performance in visual-perceptual tasks; (3) The relationship between visual working memory capacity and enhanced performance is mediated by autistic traits.

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2. AlHefdhi HA, Al Zomia AS, Alshehri NM, Alaskari AA, Hussain AA, Lahiq LA, Asiri MA, Al Asiri W, Alahmari AM, Asiri HM, Alomari SA. Examining the Quality of Life and Discrimination Impact on Parents of Children With Autism Spectrum Disorder in Aseer Region, Saudi Arabia: A WHO-QOL Survey. Cureus;2024 (Feb);16(2):e53616.

Background Autism spectrum disorder (ASD) is a neurodevelopmental disease marked by social and repetitive or restricted behaviors, as well as communication difficulty. Objectives This survey aimed to assess the quality of life (QoL) of parents with ASDs in the Aseer region of Saudi Arabia using the brief form of the World Health Organization (WHO-QOL) questionnaire. Furthermore, we sought to measure the severity of discrimination experienced by parents of children with ASDs and their impact on QoL. Methodology Using a Google form, a cross-sectional study was carried out online between March and April 2023. The patient records from four different regions of Saudi Arabia were used to recruit study participants. The survey was distributed through well-known social media channels (Instagram, Telegram, Facebook). Results A total of 99 parents were included in this study. The Southern region accounted for the bulk of participants (81.8%, n=81), nearly three-fourths of the children were boys (70.7%), mothers were more common among respondents (65.7%, n=65) than fathers, 66.7% of respondents reported being married, and 78.8% fall into the middle economic class category. The main source of information among the studied population was the Internet (39.4%, n=39), followed by relatives (23.0%, n=23), physicians (8.1%, n=9), and finally books (4%, n=4). The mean scores for the various domains are as follows: physical (58.48 ± 13.84), psychological (62.04 ± 18.08), social relations (61.20 ± 23.24), environment (24.12 ± 14.62), general QoL (72.93 ± 4.30), and general health (73.94 ± 4.63). Nearly half (46.5%) of parents have encountered stigma or discrimination toward their child or family. Individuals who reported experiencing discrimination exhibited significantly lower mean scores in multiple QoL domains than those who did not report discrimination for physical (54.11, ± 14.36vs, 62.26±12.28, p=0.003), psychological (55.80 ± 20.33 vs 67.45 ± 13.94, p=0.002), and social relations (55.43± 24.17 vs 66.20 ± 21.40, p=0.022). Multivariate analysis revealed that discrimination was the only significant predictor of QoL (p < 0.001). Conclusions The QoL of parents having a child with autism is low, moreover, the coincidence of discrimination and stigma significantly lowered QoL.

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3. Bui HTP, Huy Do D, Ly HTT, Tran KT, Le HTT, Nguyen KT, Pham LTD, Le HD, Le VS, Mukhopadhyay A, Nguyen LT. De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam. PLoS One;2024;19(3):e0290936.

Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development). Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected. We performed genetic screening to exclude RETT syndrome and Fragile X syndrome and performed genome-wide DNA microarray (aCGH) on all probands and their parents to analyse for de novo CNVs. We detected 1708 non-redundant CNVs in 100 patients and 118 (7%) of them were de novo. Using the filter for known CNVs from the Simons Foundation Autism Research Initiative (SFARI) database, we identified six CNVs (one gain and five loss CNVs) in six patients (3 males and 3 females). Notably, 3 of our patients had a deletion involving the SHANK3 gene-which is the highest compared to previous reports. This is the first report of candidate CNVs in ASD patients from Vietnam and provides the framework for building a CNV based test as the first tier screening for clinical management.

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4. Camarata S, Stiles S, Birer S. Naturalistic Developmental Behavioral Interventions for Developmental Language Disorder. Am J Speech Lang Pathol;2024 (Mar 7);33(2):627-641.

PURPOSE: Naturalistic-developmental-behavioral interventions (NDBIs) are a widely accepted and validated approach for treating language-related symptoms in autism spectrum disorder, including deficits in vocabulary, social skills, and grammar. The purpose of this article is to define the elements naturalistic, developmental, and behavioral as applied to children with developmental language disorder (DLD) and to provide an example of how this type of intervention can be implemented to teach vocabulary and test cross-modal generalization between expressive and receptive modalities. METHOD: A vocabulary intervention using hybrid NDBI methods (storybook reading and conversational recast interaction) was provided to three participants with DLD using a single-case design. RESULTS: The results indicated that all participants successfully learned receptive and expressive vocabulary targets with extensive cross-modal generalization. However, generalization was limited in some of the participants. CONCLUSIONS: This article provided definitions of key elements of NDBI (naturalistic, developmental, and behavioral) including a rationale for extending NDBI procedures to language intervention for children with DLD. In addition, a single-case design demonstrated that NDBI can be implemented in DLD and that broadly defined naturalistic-developmental applied behavior analysis techniques are applicable to language interventions for children with language disorders. Moreover, diverse naturalistic and developmental procedures meet the highest standards for evidence-based practice to treat DLD.

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5. Chen H, Zhang C, Zhou B, Wang Y, Chen X, Hui L. [Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2024 (Mar 10);41(3):363-367.

OBJECTIVE: To explore the genetic basis for a patient with unexplained developmental delay and special facial features. METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. CONCLUSION: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.

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6. Clarke L, Gesundheit N, Sherr EH, Hardan AY, Parker KJ. Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder. Mol Psychiatry;2024 (Mar 7)

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7. Cook J, Hull L, Mandy W. Improving Diagnostic Procedures in Autism for Girls and Women: A Narrative Review. Neuropsychiatr Dis Treat;2024;20:505-514.

Biases exist in the diagnostic process for autism spectrum disorder (henceforth « autism »), which result in some girls and women being diagnosed later or missed entirely. Current diagnostic tools may not capture the full range of behavioural presentations of autism, leading to under-identification. This review explores why these biases may occur, and how diagnostic procedures could be adapted to better identify autistic girls and women. We recommend that diagnostic assessments are adjusted to capture a broader range of behavioural exemplars of autism; that camouflaging of autistic traits is taken into account; and that care is taken to ensure co-occurring mental health conditions do not overshadow autism diagnosis. We offer recommendations, building on gold-standard diagnostic guidelines, for how diagnostic procedures can be improved for girls and women.

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8. Fang M, Deibler SK, Krishnamurthy PM, Wang F, Rodriguez P, Banday S, Virbasius CM, Sena-Esteves M, Watts JK, Green MR. EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons. Front Neurosci;2024;18:1348478.

Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease. Here, using a candidate-based shRNA screen, we identify nine epigenetic repressors that promote silencing of FMR1 in FXS cells (called FMR1 Silencing Factors, or FMR1- SFs). Inhibition of FMR1-SFs with shRNAs or small molecules reactivates FMR1 in cultured undifferentiated induced pluripotent stem cells, neural progenitor cells (NPCs) and post-mitotic neurons derived from FXS patients. One of the FMR1-SFs is the histone methyltransferase EZH2, for which an FDA-approved small molecule inhibitor, EPZ6438 (also known as tazemetostat), is available. We show that EPZ6438 substantially corrects the characteristic molecular and electrophysiological abnormalities of cultured FXS neurons. Unfortunately, EZH2 inhibitors do not efficiently cross the blood-brain barrier, limiting their therapeutic use for FXS. Recently, antisense oligonucleotide (ASO)-based approaches have been developed as effective treatment options for certain central nervous system disorders. We therefore derived efficacious ASOs targeting EZH2 and demonstrate that they reactivate FMR1 expression and correct molecular and electrophysiological abnormalities in cultured FXS neurons, and reactivate FMR1 expression in human FXS NPCs engrafted within the brains of mice. Collectively, our results establish EZH2 inhibition in general, and EZH2 ASOs in particular, as a therapeutic approach for FXS.

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9. Girtler SN, Unholz-Bowden EK, Shipchandler A, Kolb RL, McComas JJ. Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 1: Page-Linking. J Dev Phys Disabil;2024 (Feb);36(1):125-145.

Although the last decade has welcomed evidence that individuals with Rett syndrome (RTT) can communicate using alternative and augmentative communication (AAC), less is known about effective procedures for teaching various component skills required for expressive communication of individuals with complex communication needs. The purpose of the current study was to evaluate the effects of systematic individualized instruction procedures on the page-linking skills of individuals with RTT. A nonconcurrent multiple baseline design across participants was used to evaluate independent and accurate responding utilizing both a high-tech and low-tech AAC device for three participants. All sessions were conducted in the participants’ homes by their parents with remote coaching from a researcher via telehealth. Results indicated that for all three participants, individualized procedures that included behavior chaining, differential reinforcement, and delayed prompting were effective for teaching page-linking in both a high-tech and a low-tech AAC device. Directions for future research and practice are discussed.

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10. Koehler JC, Dong MS, Song DY, Bong G, Koutsouleris N, Yoo H, Falter-Wagner CM. Classifying autism in a clinical population based on motion synchrony: a proof-of-concept study using real-life diagnostic interviews. Sci Rep;2024 (Mar 7);14(1):5663.

Predictive modeling strategies are increasingly studied as a means to overcome clinical bottlenecks in the diagnostic classification of autism spectrum disorder. However, while some findings are promising in the light of diagnostic marker research, many of these approaches lack the scalability for adequate and effective translation to everyday clinical practice. In this study, our aim was to explore the use of objective computer vision video analysis of real-world autism diagnostic interviews in a clinical sample of children and young individuals in the transition to adulthood to predict diagnosis. Specifically, we trained a support vector machine learning model on interpersonal synchrony data recorded in Autism Diagnostic Observation Schedule (ADOS-2) interviews of patient-clinician dyads. Our model was able to classify dyads involving an autistic patient (n = 56) with a balanced accuracy of 63.4% against dyads including a patient with other psychiatric diagnoses (n = 38). Further analyses revealed no significant associations between our classification metrics with clinical ratings. We argue that, given the above-chance performance of our classifier in a highly heterogeneous sample both in age and diagnosis, with few adjustments this highly scalable approach presents a viable route for future diagnostic marker research in autism.

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11. Laubscher E, Pope L, Light J. « You Just Want to Be Able to Communicate With Your Child »: Parents’ Perspectives on Communication and AAC Use for Beginning Communicators on the Autism Spectrum. Am J Speech Lang Pathol;2024 (Mar 7);33(2):716-735.

PURPOSE: For young children on the autism spectrum who are beginning communicators, augmentative and alternative communication (AAC) can support language development and participation in meaningful interactions. AAC is more likely to be effective when services align with the needs and priorities of the child’s family. To better understand family perspectives, this study investigated the communication and AAC experiences of parents of young beginning communicators on the autism spectrum. METHOD: The study used a phenomenological qualitative design. Eight caregivers of seven children on the autism spectrum participated in semistructured interviews, and thematic analysis was used to identify themes within the data. RESULTS: Five main themes and 15 subthemes emerged from the data. Parents situated communication and AAC experiences within the context of complex, busy lives. They discussed the value of communication and benefits of AAC, but described numerous challenges related to obtaining, learning, and implementing AAC that evolved over time as needs and skills changed. Parents discussed their children’s individuality and the need for AAC systems and services to fit the unique needs of their child and their family. They also emphasized ways in which communication outcomes were affected by factors external to the child and the family, including factors related to professional services and the U.S. health care and educational systems. CONCLUSIONS: The results affirm the need to consider the family and the broader social system when providing AAC services to young children on the autism spectrum. Provision of family-centered services is critical to successful AAC. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24881562.

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12. Liu J, Zhang J, Shen Y, Li Y, Luo H, Gan J. [Analysis of a child featuring global developmental delay and autism due to variant of TBR1 gene and a literature review]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2024 (Mar 10);41(3):335-338.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism. METHODS: A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed. RESULTS: The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy. Electroencephalogram revealed multiple focal discharges in both waking and sleeping stages, with the remarkable one seen at the sleeping stage. Cranial MRI showed pachygyria and local cortical thickening, Whole exome sequencing (WES) revealed that the child has harbored a heterozygous c.1589_1595dup (p.Gly533Leufs*143) frameshifting variant in the TBR1 gene (OMIM 604616). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PS2+PVS1_Supporting+PM2_Supporting). After treated with levetiracetam and rehabilitation training, the child did not have seizure in the past 5 months, and his motor development has also significantly improved. CONCLUSION: The c.1589_1595dup variant of the TBR1 gene probably underlay the disease in this patient.

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13. Mori D, Ikeda R, Sawahata M, Yamaguchi S, Kodama A, Hirao T, Arioka Y, Okumura H, Inami C, Suzuki T, Hayashi Y, Kato H, Nawa Y, Miyata S, Kimura H, Kushima I, Aleksic B, Mizoguchi H, Nagai T, Nakazawa T, Hashimoto R, Kaibuchi K, Kume K, Yamada K, Ozaki N. Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice. Transl Psychiatry;2024 (Mar 7);14(1):138.

Whole genome analysis has identified rare copy number variations (CNV) that are strongly involved in the pathogenesis of psychiatric disorders, and 3q29 deletion has been found to have the largest effect size. The 3q29 deletion mice model (3q29-del mice) has been established as a good pathological model for schizophrenia based on phenotypic analysis; however, circadian rhythm and sleep, which are also closely related to neuropsychiatric disorders, have not been investigated. In this study, our aims were to reevaluate the pathogenesis of 3q29-del by recreating model mice and analyzing their behavior and to identify novel new insights into the temporal activity and temperature fluctuations of the mouse model using a recently developed small implantable accelerometer chip, Nano-tag. We generated 3q29-del mice using genome editing technology and reevaluated common behavioral phenotypes. We next implanted Nano-tag in the abdominal cavity of mice for continuous measurements of long-time activity and body temperature. Our model mice exhibited weight loss similar to that of other mice reported previously. A general behavioral battery test in the model mice revealed phenotypes similar to those observed in mouse models of schizophrenia, including increased rearing frequency. Intraperitoneal implantation of Nano-tag, a miniature acceleration sensor, resulted in hypersensitive and rapid increases in the activity and body temperature of 3q29-del mice upon switching to lights-off condition. Similar to the 3q29-del mice reported previously, these mice are a promising model animals for schizophrenia. Successive quantitative analysis may provide results that could help in treating sleep disorders closely associated with neuropsychiatric disorders.

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14. Mukherjee SB, Manivannan D, Sharma S. Validation of the Hindi Versions of Three Autism Specific Screening Tools (M-CHAT-R/F, RBSK-ASQ and TABC) Widely Used in India in 16-30-Month-Old Children. Indian Pediatr;2024 (Mar 7)

OBJECTIVE: To determine the diagnostic accuracy of MCHAT-R/F, RBSK-ASQ and TABC for screening children aged 16 to 30 months for autism, spectrum disorder (ASD). METHOD: Children aged 16 to 30 months were recruited from the pediatrics department. Those with known neurodevelopmental disorders, disabilities, severe medical illnesses, unavailable mothers, or lack of maternal understanding of Hindi, were excluded. The three index tools were translated into Hindi; each tool was piloted on 25 mothers and modified accordingly. The researcher was trained in administration, scoring and interpretation of the three tools. After enrollment the index tools and Developmental Profile (DP-3) were administered to each participant. The reference tool was a comprehensive assessment by experts that included clinical evaluation, computation of DP-3 scores, and application of diagnostic criteria of ASD; the final diagnosis being ASD or Non-ASD. RESULTS: Sensitivity and specificity of M-CHAT-R/F were 95.2% and 94.4%, of RBSK-ASQ were 100% and 93.9%, and of TABC were 100% and 94.4%, respectively. Convergent validity was high (Spearman’s correlation coefficient 0.98). Test-retest and inter-rater reliability of each tool was excellent (Intra-class correlation coefficient 1.00). CONCLUSION: All three tools had acceptable psychometric properties, high convergent validity and excellent test-retest and inter-rater reliability.

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15. Oliva OA, Giugno L, Moroni A, Sturla F, Piazza L, Saracino A, Micheletti A, d’Aiello AF, Reali M, Chessa M, Carminati M. Right disc thrombosis of the new Gore Cardioform ASD Occluder. Catheter Cardiovasc Interv;2024 (Mar 7)

BACKGROUND: The GCA is a well performing device in terms of efficacy despite complex anatomies (aortic rim <5 mm and ASD diameter >17 mm) with a good safety profile. AIMS: To evaluate atrial septal defect (ASD) features impacting on right disc device thrombosis in patients who underwent Gore Cardioform ASD Occluder (GCA) implantation. METHODS: A total of 44 consecutive patients undergoing percutaneous ASD with GCA device from January 2020 to September 2022 at our tertiary care Center were evaluated. The minimum follow-up was 6 months. RESULTS: The patients were stratified in two groups according to a cut-off value of ASD diameter equal to 20 mm at sizing balloon, derived from ROC analysis (AUC = 0.894; p = 0.024). Baseline characteristics were comparable between groups in terms of age, sex, weight, height, and interatrial septum dimensions. Patients with ASD > 20 mm (n = 9) had a higher ASD/device dimension ratio, both at echocardiography (p = 0.009) and at sizing balloon (p = 0.001), longer fluoroscopic time (p = 0.022), and higher incidence of device thrombosis (0.006). Right disc thrombosis was observed in three patients of the ASD > 20 mm group, always in the inferior portion of the right disc. On univariate analysis, ASD diameter at sizing balloon (OR 1.360; p = 0.036) was the only positive predictor of device thrombosis. CONCLUSIONS: Right disc thrombosis of the GCA device may be under-recognized at follow-up, hence deserving clinical attention, especially in those patients with larger ASD diameters.

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16. Oppenheim D, Koren-Karie N, Slonim M, Mottes-Peleg M, Sher-Censor E, Dolev S, Yirmiya N. Maternal and paternal insightfulness and reaction to the diagnosis in families of preschoolers with Autism spectrum disorder: associations with observed parental sensitivity and inter-parent interaction. Attach Hum Dev;2024 (Mar 7):1-19.

Sensitivity among parents of children with Autism Spectrum Disorder (ASD) is based on parental insightfulness and on resolution regarding the child’s diagnosis. This has been supported in studies of mothers, and we examined whether the same is true regarding fathers. Also, we asked whether parents’ Insightfulness and Resolution tap general mentalization and therefore also be expressed in parent-parent interactions. Eighty preschooler boys with ASD and both of their parents participated. As expected, fathers who were more insightful and mothers who were more resolved were more sensitive. Contrary to expectations, no associations were found between fathers’ resolution and mothers’ insightfulness and their sensitivity. Associations were found between parental insightfulness and resolution and positive parent-parent interaction. The findings are the first to demonstrate the insightfulness-sensitivity link among fathers of children with ASD. Also, they suggest that both insightfulness and resolution involve general mentalization that is evident both in parent-child and parent-parent interactions.

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17. Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M, Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. Am J Hum Genet;2024 (Mar 7);111(3):509-528.

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is a zinc-finger homeodomain transcription factor involved in various biological processes, including cell differentiation and tumorigenesis. We describe 42 individuals with protein-truncating variants (PTVs) or (partial) deletions of ZFHX3, exhibiting variable intellectual disability and autism spectrum disorder, recurrent facial features, relative short stature, brachydactyly, and, rarely, cleft palate. ZFHX3 LoF associates with a specific methylation profile in whole blood extracted DNA. Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation. ZFHX3 was found to interact with the chromatin remodeling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex, suggesting a function in chromatin remodeling and mRNA processing. Furthermore, ChIP-seq for ZFHX3 revealed that it predominantly binds promoters of genes involved in nervous system development. We conclude that loss-of-function variants in ZFHX3 are a cause of syndromic ID associating with a specific DNA methylation profile.

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18. Pitt AR, Osabuohien LW, Brady NC. Phonemic Feature Scoring as a Tool for Progress Monitoring During Language Interventions for Children With Autism and Minimal Verbal Skills. Am J Speech Lang Pathol;2024 (Mar 7);33(2):676-692.

PURPOSE: An increasing number of studies focus on verbal treatments for children with autism and minimal verbal skills. However, clinical tools for progress monitoring during interventions are lacking. The aim of this clinical focus article is to provide illustrations on the utility of a phonemic feature scoring system as a progress-monitoring tool, focusing on benefits and limitations as well as indications for use. METHOD: Current practices for progress monitoring during language interventions with children with autism and minimal verbal skills are reviewed. A phonemic feature scoring tool is provided to aid clinicians in assessing the accuracy and consistency of expressive word productions. The authors illustrate the use of phonemic feature scoring as a progress-monitoring tool for two children with autism and minimal verbal skills, contrasting the phonemic feature scoring system to correct/incorrect, phoneme-level, and whole-word scoring. RESULTS: Case 1 demonstrates a scenario where the child’s speech intelligibility is low and clinical use of the phonemic feature scoring system captures discrete changes in speech production progress not represented by correct/incorrect, phoneme-level, and whole-word scoring. However, Case 2 represents a situation where once a child’s speech intelligibility improves, the phonemic feature scoring system is no longer needed, and correct/incorrect scoring may be sufficient. CONCLUSION: The phonemic feature scoring system allows clinicians to track phonemic feature changes in word productions and provides detailed progress monitoring information, leading to adaptations of the intervention for each individual.

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19. Shipkova M, Butera CD, Flores GD, Kilroy E, Jayashankar A, Harrison L, Cermak SA, Aziz-Zadeh L. Caregiver and youth inter-rater assessment agreement in autism spectrum disorder, developmental coordination disorder, and typical development. Autism Res;2024 (Mar 7)

Youth diagnosed with autism spectrum disorder (ASD) and those with developmental coordination disorder (DCD) are at heightened risk for co-occurring mental health diagnoses, especially anxiety and attention-deficit/hyperactivity disorder (ADHD). However, caregiver-child agreement on presence of related symptoms in populations with neurodevelopmental conditions is not well understood. Here, we examine the extent to which 37 ASD, 26 DCD, and 40 typically developing children and their caregivers agree on the degree of the child’s symptoms of anxiety and ADHD. All caregiver-child dyads completed the Screen for Child Anxiety Related Emotional Disorders and Conners 3 ADHD Index. Across groups, intraclass correlations indicated generally poor agreement on anxiety and ADHD symptomatology. Although youth generally reported greater internalizing symptoms (i.e., anxiety), caregivers tended to report more observable externalizing behaviors (i.e., ADHD). Together, the results of this study support the need for a multi-informant approach in assessments of anxiety and ADHD in youth with neurodevelopmental disorders.

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20. Wenzell ML, Pulver SL, McMahon MXH, Rubio EK, Gillespie S, Berry RC, Betancourt I, Minter B, Schneider O, Yarasani C, Rogers D, Scahill L, Volkert V, Sharp WG. Clinical Correlates and Prevalence of Food Selectivity in Children with Autism Spectrum Disorder. J Pediatr;2024 (Mar 4):114004.

OBJECTIVE: To examine clinical correlates and prevalence of food selectivity (FS) – i.e., self-restricted diet, reluctance to try new foods – in children with autism spectrum disorder (ASD) ascertained from a general outpatient autism clinic. STUDY DESIGN: A multidisciplinary team (pediatric nurse practitioner, psychologist and dietitian) assessed medical and psychosocial histories and dietary habits in 103 children with ASD (mean age= 5.8 + 2.2 years; range 2-10). Parents rated child mealtime behavior on Brief Autism Mealtime Behavior Inventory (BAMBI) and disruptive behavior on Aberrant Behavior Checklist (ABC). Height and weight measurements were collected. Children were classified as FS or no FS based on parent reported intake and mealtime behavior. A 24-hour dietary recall was used to record intake percentages < 80%. Logistic regression and multivariable modeling were used to evaluate clinical correlates with FS. RESULTS: Of 103 children, 45.6% (n=47) were classified as FS; 54.4% (n=56) no FS. After adjusting for potential confounders, the odds of FS increased by 1.91 (95% CI: 1.38, 2.64, p<.001) for every half-SD increase in BAMBI total score and by 1.35 (95% CI: 1.05, 1.74, p=.020) for every half-SD increase in ABC Hyperactivity/Noncompliance. No group differences in anthropometrics or nutritional intake were identified. CONCLUSIONS: FS in children with ASD was strongly associated with greater severity of disruptive mealtime and hyperactivity/noncompliance behaviors. FS was not associated with anthropometrics or nutritional intake.

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21. Xue Y, Bai MS, Dong HY, Wang TT, Mohamed ZA, Jia FY. Altered intra- and inter-network brain functional connectivity associated with prolonged screen time in pre-school children with autism spectrum disorder. Eur J Pediatr;2024 (Mar 7)

Prolonged screen time (ST) has adverse effects on autistic characteristics and language development. However, the mechanisms underlying the effects of prolonged ST on the neurodevelopment of children with autism spectrum disorder (ASD) remain unclear. Neuroimaging technology may help to further explain the role of prolonged ST in individuals with ASD. This study included 164 cases, all cases were divided into low-dose ST exposure (LDE group 108 cases) and high-dose ST exposure (HDE group 56 cases) based on the average ST of all subjects. Spatial independent component analysis (ICA) was used to identify resting state networks (RSNs) and investigate intra- and inter-network alterations in ASD children with prolonged ST. We found that the total Childhood Autism Rating Scale (CARS) scores in the HDE group were significantly higher than those in the LDE group (36.2 ± 3.1 vs. 34.6 ± 3.9, p = 0.008). In addition, the developmental quotient (DQ) of hearing and language in the HDE group were significantly lower than those in the LDE group (31.5 ± 13.1 vs. 42.5 ± 18.5, p < 0.001). A total of 13 independent components (ICs) were identified. Between-group comparison revealed that the HDE group exhibited decreased functional connectivity (FC) in the left precuneus (PCUN) of the default mode network (DMN), the right middle temporal gyrus (MTG) of the executive control network (ECN), and the right median cingulate and paracingulate gyri (MCG) of the attention network (ATN), compared with the LDE group. Additionally, there was an increase in FC in the right orbital part of the middle frontal gyrus (ORBmid) of the salience network (SAN), compared with the LDE group. The inter-network analysis revealed increased FC between the visual network (VN) and basal ganglia (BG) and decreased FC between the sensorimotor network (SMN) and DMN, SMN and ATN, SMN and auditory network (AUN), and DMN and SAN in the HDE group, compared with the LDE group. There was a significant negative correlation between altered FC values in MTG and total CARS scores in subjects (r =  - 0.18, p = 0.018). Conclusion: ASD children with prolonged ST often exhibit lower DQ of language development and more severe autistic characteristics. The alteration of intra- and inter-network FC may be a key neuroimaging feature of the effect of prolonged ST on neurodevelopment in ASD children. Clinical trial registration: ChiCTR2100051141. What is Known: • Prolonged ST has adverse effects on autistic characteristics and language development. • Neuroimaging technology may help to further explain the role of prolonged ST in ASD. What is New: • This is the first study to explore the impact of ST on intra- and inter-network FC in children with ASD. • ASD children with prolonged ST have atypical changes in intra- and inter-brain network FC.

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22. Zappia KJ, Shillington A, Fosdick C, Erickson CA, Lamy M, Dominick KC. Neurodevelopmental Disorders Including Autism Spectrum Disorder and Intellectual Disability as a Risk Factor for Delayed Diagnosis of Catatonia. J Dev Behav Pediatr;2024 (Mar 7)

OBJECTIVE: Catatonia is a distinct and severe medical syndrome comprising motor, somatic, and psychiatric symptoms that is reported in upwards of 17% of young patients with autism spectrum disorders. Clinical experience indicates catatonia is often under-recognized in this clinical population. Here we characterize the clinical presentation of catatonia in patients with and without neurodevelopmental disorders (NDDs) including autism, including the time from symptom onset to diagnosis of catatonia. METHOD: Retrospective chart review of electronic medical records at a large, academic pediatric medical center identified 113 pediatric and young adult patients with a charted history of catatonia, as identified by an encounter diagnosis or problem list entry between September 2017 and September 2021. Workup, treatments, and diagnoses (psychiatric, neurodevelopmental, and genetic) were identified. RESULTS: We observed a clear and substantial delay in identification of catatonia in those with NDDs (diagnosis after 330 days for those without psychosis) compared with neurotypical patients (∼16 days). Psychiatry involvement was associated with shorter delays. CONCLUSION: Intellectual disability and autism are risk factors for significantly delayed diagnosis of catatonia. It is unknown whether delayed diagnosis contributes to the difficulty in treating catatonia in this patient population or whether the treatment difficulties relate instead to differential and ongoing biological mechanisms and underlying encephalopathy. Overall, these findings highlight the importance of increased recognition of catatonia symptoms in patients with NDDs and suggest early referral to psychiatric specialists may shorten the delay to diagnosis.

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