1. Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome. Am J Med Genet A. 2024; 194(10): e63288.

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2. Autism screening and diagnostic outcomes among toddlers born preterm. Dev Med Child Neurol. 2024.

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3. Alqunaysi R, Meadan H. Autism and Communication Skills: Perspectives of Special Education Teachers in Saudi Arabia. J Autism Dev Disord. 2024.

The experiences of special education teachers in Saudi Arabia are quite different from the experiences of their counterparts from other countries as they work in a unique culture and educational system. The educational system in Saudi Arabia is gender segregated, and the Saudi Arabian Ministry of Education (MoE) provides an equal budget, salaries, and subsidies and implements the same policies and uses the same curriculum regardless of the location, size of the city, or the number of students. This country’s unique characteristics may influence special education teachers’ experiences, which raises the need to investigate and understand the experiences of Saudi special education teachers. We sought to understand the experiences of special education teachers in Saudi Arabia, focusing on teaching communication skills to autistic students. We conducted semi-structured interviews with 13 Saudi special education teachers to gain deeper insights into the experiences of these teachers within the Saudi context. The themes that emerged from the interviews revolved around evaluating and teaching communication skills, the role of the Saudi MoE, and the perceived challenges and needs related to teaching communication skills. Building on our findings, we propose a set of recommendations for special education teachers and the Saudi MoE.

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4. Awaida I, Saleh AA, El Masri J, Farhat S, El Tourjouman O. Evaluating the Efficacy of Combining Sensory Room and Conventional Therapies for Lebanese Children With Autism: A 10-Year Study. Cureus. 2024; 16(9): e69953.

Background Autism spectrum disorder (ASD) is a developmental condition characterized by sensory difficulties, which pose a significant challenge. Our aim is to evaluate the effectiveness of sensory room therapy in conjunction with traditional therapy, comparing it to traditional therapy alone, among children diagnosed with ASD in Lebanon. Methods A retrospective longitudinal study with cross-sectional survey (mixed study) was conducted over a 10-year period, involving 548 children diagnosed with autism spectrum disorder (ASD). The children were divided into two groups: group 1, comprising 306 children who received conventional therapy in addition to sensory room therapy, and group 2, consisting of 242 children who received conventional therapy alone. Data collection included sociodemographic characteristics, autism-related features, and scores from the Parental Concerns Questionnaire Inferring Alterations (PCQIA) scale, which measures sensory and behavioral characteristics. Data were collected at two time points: before the initiation of sensory room therapy and after the completion of the therapy, allowing for an assessment of changes and effectiveness post-treatment. Results In both groups, there was no significant difference in PCQIA scores following conventional therapy alone (group 1: mean score 34.1, group 2: mean score 33.4; p=0.222). However, a significant increase in PCQIA scores was observed after the addition of sensory room therapy in group 1 (combined therapy), with scores rising from a pre-therapy mean of 34.1 to a post-therapy mean of 41.7 (p<0.001). Moreover, there was a positive correlation between PCQIA scores and parental income. Additionally, 78.2% of parents rated sensory room therapy as highly effective, with 62% reporting significant improvement in their children's behavior and 80% noting increased engagement in extracurricular activities. Notably, 98% of parents indicated they would recommend the combined therapy to others. Conclusion Sensory room therapy demonstrates improvement in sensory challenges and motor skills among children diagnosed with ASD.

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5. Brown CM, Chaparro JD, Chandawarkar A, Bester S, Newmeyer A, Barnhardt EW. Boosting Autism Screening and Referrals with EHR-Integrated Tools at Well-Child Visits. J Dev Behav Pediatr. 2024.

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6. Cargill MI, Lerner MD, Kang E. Correction to: The Moderating Effect of Sex on Autistic Trait Emotional Intelligence, Alexithymia, and Empathy. J Autism Dev Disord. 2024.

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7. Chen J, Han Z, Wang Z, Chen L, Wang S, Yao W, Xue Z. Identification of immune traits associated with neurodevelopmental disorders by two-sample Mendelian randomization analysis. BMC Psychiatry. 2024; 24(1): 728.

BACKGROUND: One of the main causes of health-related issues in children is neurodevelopmental disorders (NDDs), which include attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS). Nonetheless, there is relatively little prior research looking at the link between immunological inflammation and NDDs. Our work uses a two-sample Mendelian Randomization (MR) approach to provide a thorough evaluation of the causal effects of immune traits on ADHD, ASD, and TS. METHODS: As exposures, 731 immunological traits’ genetic associations were chosen, and the outcomes were genome-wide association data for ADHD, ASD, and TS. The inverse-variance weighted (IVW), weighted median (WM), and MR-Egger methods were used to conduct MR analysis. The results’ robustness, heterogeneity, and horizontal pleiotropy were confirmed using extensive sensitivity analysis. RESULTS: With single-nucleotide polymorphisms serving as instruments and false discovery rate (FDR) correction applied, the study found that significantly higher expression of CD62L on CD62L(+) myeloid DC (IVW, OR: 0.926, 95% CI 0.896~0.958, P = 9.42 × 10(-6), FDR = 0.007) and suggestively higher absolute cell count (AC) of CD28 + DN (CD4-CD8-) (IVW, OR: 0.852, 95% CI = 0.780 ∼ 0.932, P-value = 4.65 × 10(-4), FDR = 0.170) was associated with a lower risk of ADHD. There was no pleiotropy, and the causal relationships were strong according to sensitivity, leave-one-out, and MR-Steiger directionality tests. For ASD and TS, no harmful or protective immune traits were observed. CONCLUSIONS: The results of the study lend credence to the theory that deficiency in CD62L on CD62L(+) myeloid DC and CD28 + DN (CD4-CD8) AC may contribute to the onset of ADHD.

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8. Ghasham H, Heild H, Patel R. Exacerbation of Fragile X-associated Tremor/Ataxia Syndrome in the Context of COVID-19 Infection: A Case Report. Cureus. 2024; 16(9): e69969.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting premutation carriers of the FMR1 gene. This case report presents a 65-year-old male who was diagnosed with FXTAS after presenting with an acute exacerbation of neurological symptoms in the setting of a COVID-19 infection. The case highlights the potential for viral infections to trigger the worsening of FXTAS symptoms and emphasizes the importance of comprehensive evaluation in such scenarios.

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9. Jha RR, Muralie A, Daroch M, Bhavsar A, Nigam A. Enhancing Autism Spectrum Disorder identification in multi-site MRI imaging: A multi-head cross-attention and multi-context approach for addressing variability in un-harmonized data. Artif Intell Med. 2024; 157: 102998.

Multi-site MRI imaging poses a significant challenge due to the potential variations in images across different scanners at different sites. This variability can introduce ambiguity in further image analysis. Consequently, the image analysis techniques become site-dependent and scanner-dependent, implying that adjustments in the analysis methodologies are necessary for each scanner configuration. Further, implementing real-time modifications becomes intricate, particularly when incorporating a new type of scanner, as it requires adapting the analysis methods accordingly. Taking into account the aforementioned challenge, we have considered its implications for an Autism spectrum disorder (ASD) application. Our objective is to minimize the impact of site and scanner variability in the analysis, aiming to develop a model that remains effective across different scanners and sites. This entails devising a methodology that allows the same model to function seamlessly across multiple scanner configurations and sites. ASD, a behavioral disorder affecting child development, requires early detection. Clinical observation is time-consuming, prompting the use of fMRI with machine/deep learning for expedited diagnosis. Previous methods leverage fMRI’s functional connectivity but often rely on less generalized feature extractors and classifiers. Hence, there is significant room for improvement in the generalizability of detection methods across multi-site data, which is acquired from multiple scanners with different settings. In this study, we propose a Cross-Combination Multi-Scale Multi-Context Framework (CCMSMCF) capable of performing neuroimaging-based diagnostic classification of mental disorders for a multi-site dataset. Thus, this framework attains a degree of internal data harmonization, rendering it to some extent site and scanner-agnostic. Our proposed network, CCMSMCF, is constructed by integrating two sub-modules: the Multi-Head Attention Cross-Scale Module (MHACSM) and the Residual Multi-Context Module (RMCN). We also employ multiple loss functions in a novel manner for training the model, which includes Binary Cross Entropy, Dice loss, and Embedding Coupling loss. The model is validated on the Autism Brain Imaging Data Exchange I (ABIDE-I) dataset, which includes data from multiple scanners across different sites, and achieves promising results.

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10. Kaiser J, Risteska A, Muller AG, Sun H, Lei B, Nay K, Means AR, Cousin MA, Drewry DH, Oakhill JS, Kemp BE, Hannan AJ, Berk M, Febbraio MA, Gundlach AL, Hill-Yardin EL, Scott JW. Convergence on CaMK4: a key modulator of autism-associated signaling pathways in neurons. Biol Psychiatry. 2024.

Although the precise underlying cause(s) of autism spectrum disorder remain unclear, more than 1000 rare genetic variations are associated with the condition. For a large number of people living with profound autism, this genetic heterogeneity has impeded the identification of common biological targets for therapy development for core and comorbid traits that include significant impairments in social communication, and repetitive and restricted behaviors. A substantial number of genes associated with autism encode proteins involved in signal transduction and synaptic transmission that are critical for brain development and function. CAMK4 is an emerging risk gene for autism spectrum disorder that encodes the Ca(2+)-calmodulin-dependent protein kinase-4 (CaMK4) enzyme. CaMK4 is a key component of a Ca(2+)-activated signaling pathway that regulates neurodevelopment and synaptic plasticity. In this review, we discuss three genetic variants of CAMK4 found in individuals with hyperkinetic movement disorder and comorbid neurological symptoms including autism spectrum disorder that are likely pathogenic with monogenic effect. We also comment on four other genetic variations in CAMK4 that display associations with autism spectrum disorder, as well as twelve examples of autism-associated variations in other genes that impact CaMK4 signaling pathways. Finally, we highlight three environmental risk factors that impact CaMK4 signaling based on studies in preclinical models of autism and/or clinical cohorts. Overall, we review molecular, genetic, physiological, and environmental evidence that suggest defects in the CaMK4 signaling pathway may play an important role in a common autism pathogenesis network across numerous patient groups, and propose CaMK4 as a potential therapeutic target.

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11. Kim S, Johnson AR, Wolpe SM, Volodina E. Exploring the Feasibility of Social Skills Programs for Autistic Youth Through Virtual Reality. J Autism Dev Disord. 2024.

Many autistic individuals may desire support and services primarily in the areas of adaptive functioning and social well-being throughout their lifetime. There is a need for community-informed and person-centered social programs targeted for autistic adolescents and adults. New technology, such as virtual reality (VR), is being researched to assess the feasibility of providing therapeutic services to autistic individuals. This qualitative study aims to better understand and explore the perceptions of parents and autistic adolescents regarding social development and thoughts around social skills interventions delivered through technologies such as VR. Eight autistic adolescents between the ages of 12 to 17, and five parents participated across five focus groups. The focus group interviews were semi-structured, and qualitative data analysis was conducted through an open thematic approach and inductive coding process. Seven primary themes with sub-themes were identified throughout the focus group interview discussions: Social Skills of the participating autistic adolescents as reported by their parents and by self-report, Family Dynamics affecting social relationships within the family, Social Skills Goals both groups hoped to develop and improve, the existence and quality of In-Person vs. Online Friendships, Experience/Comfort With Technology, Openness to Virtual Environments, and Concerns for Virtual Environments. Researchers identified these themes across both parent and adolescent focus groups. This study provides guidance to the research community on investigating different innovative approaches for offering a social program that is supported by autistic individuals.

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12. Koch LC, Lunsky Y, St John L. Physical Activity, Sedentary Behaviour, Sleep and Mental Wellbeing in Family Caregivers of Adults With Intellectual and/or Developmental Disabilities. J Appl Res Intellect Disabil. 2025; 38(1): e13310.

BACKGROUND: Canadian 24-h movement guidelines recommend that adults achieve 150 min per week of moderate-to-vigorous physical activity (MVPA), 7-9 h of sleep per night and spend no more than 8-h per day sedentary to optimise health and wellbeing. METHOD: Using a cross-sectional survey of 131 family caregivers of adults with intellectual and developmental disabilities, we aimed to (a) determine whether adherence to these guidelines predicts mental wellbeing in family caregivers and (b) explore the relationship between movement behaviours of family caregivers and their loved ones. RESULTS: While MVPA was found to weakly predict wellbeing, sleep and sedentary behaviour did not. The movement behaviours of the family caregivers were not closely related to that of their loved ones. CONCLUSIONS: Fostering physical activity is important to promote the wellbeing of adults with intellectual and developmental disabilities, as well as their family caregivers. Opportunities to be active together may be even more beneficial.

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13. Lin IY, Stahmer AC, Feinberg E, Feldman HM, Deras M, Augustyn M. Challenging Case: Family Navigation for Autism Spectrum Disorder. J Dev Behav Pediatr. 2024.

Leo is a 28-month-old boy from a monolingual Spanish-speaking family who was referred to a developmental-behavioral pediatrics (DBP) clinic for concerns regarding autism. His parents migrated to the United States 8 years ago and currently live and work on a farm. He was born in a US hospital after an uncomplicated pregnancy and has been generally healthy. His parents first became concerned about his development when he was 16 months old. He stopped saying mama/dada in Spanish and started lining up random objects. He had frequent temper tantrums and was difficult to console during unexpected changes in his routine. He screened positive on the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) at his 18-month well-child visit, and his pediatrician referred him to the local early intervention program. Calls from the early intervention program to his parents were unanswered. At his 24-month well-child visit, he again screened positive on the M-CHAT-R/F, and his pediatrician placed a referral for a DBP consultation. During the DBP visit at 28 months of age, developmental testing indicated his receptive and expressive language skills to be in the extremely low range, with significant scatter in his cognitive and adaptive skills. Behavioral observations were consistent with parental history and showed differences in social communication and interaction, the presence of repetitive behaviors, and extreme distress with transitions. He was diagnosed with autism spectrum disorder. Recommendations, including referral to early intervention, applied behavior analysis therapy, speech and language therapy, audiology evaluation, and genetic testing, were discussed with his parents through an interpreter. An autism packet, written in Spanish, with detailed information about autism and community resources was given to the family. By the time of a follow-up DBP visit 6 months later, Leo had not started on any early intervention or therapeutic services. Where do you go from here?

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14. Liu P, Zhou J, Zhang L, Ji H, Xu J, Xu Q, Yao M, Chi X, Qian J, Hong Q. A longitudinal study on the development trajectory of auditory processing and its relationship with language development in Chinese preschool children with autism spectrum disorder: study protocol. BMC Psychiatry. 2024; 24(1): 723.

BACKGROUND: It was reported that more than 96% of autism spectrum disorder (ASD) children are accompanied with different degrees of sensory processing abnormalities, and up to 50% of ASD children exhibit abnormal auditory response. Studies have confirmed that some ASD children’s abnormal auditory response may be related to their abnormal auditory processing. Prior research demonstrated that ASD children’s auditory processing has high heterogeneity, thus, ASD children’s auditory processing may have different developmental trajectories. However, no study has concentrated on the developmental trajectories of ASD children’s auditory processing. In addition, auditory processing plays a crucial role in ASD children’s language development, thus, ASD children’s different language development outcomes may be related to different auditory processing development tracks. Therefore, this study aims to explore the developmental trajectory of auditory processing in ASD children and analyze the relationship between different developmental trajectories of auditory processing and language impairment. METHODS/DESIGN: In this study, 220 ASD children aging 3 years and 0 months to 4 years and 11 months are recruited as the research objects, and their demographic characteristics are collected. The subjects are tested for peripheral hearing, intelligence, and autism symptoms. Furthermore, ASD children’s auditory processing and language development are evaluated at baseline, 1 year, and 2 years later. In addition, ASD children’s auditory processing is evaluated by electrophysiological test and the Preschool Auditory Processing Assessment Scale. Moreover, ASD children’s language skills are assessed using the Language Development Assessment Scale for Children Aged 1-6. The various categories of the developmental trajectory of ASD children’s auditory processing are examined through the latent category growth model. Additionally, a hierarchical regression model is developed to analyze the predictive impact of different auditory processing development trajectories on language impairment in ASD children. DISCUSSION: This longitudinal study will explore the categories of auditory processing developmental trajectories in ASD children, and analyze the relationship between different categories of auditory processing developmental trajectories and language development, providing new ideas and targeted targets for the rehabilitation training of language impairment in ASD children, as well as promoting early and accurate interventions for ASD children.

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15. Morinaga M, Ahlqvist VH, Lundberg M, Hollander AC, Rai D, Magnusson C. Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study. J Neurodev Disord. 2024; 16(1): 58.

BACKGROUND: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. METHODS: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. RESULTS: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59-0.69%) in 2011 to 1.00% (0.94-1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04-1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. CONCLUSION: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child’s birth. The increase instead may be due to changes in diagnostic practices in Sweden over time.

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16. Parmar K, Porter C, Dickinson C, Baimbridge P, Gowen E. Refractive and ocular motor status in autistic adults without learning disabilities: an exploratory study. Clin Exp Optom. 2024: 1-9.

CLINICAL RELEVANCE: Refractive and ocular motor anomalies may be more prevalent among autistic adults without learning disabilities, compared to a non-autistic clinical population. In line with current guidance, optometrists should exclude these anomalies prior to prescribing tinted lenses. BACKGROUND: Autistic adults report various visual experiences with largely negative consequences on daily living. Some of these overlap with symptoms of refractive and ocular motor anomalies. Therefore, this study investigated refractive and ocular motor status, and pattern glare, in autistic adults without learning disabilities. The impact of appropriate treatment on visual experiences was explored. METHODS: Twenty four autistic adults, aged 19-67 years, underwent an eye examination involving refraction, ocular motor and pattern glare assessments. Based on pre-determined criteria, anomalies were treated with spectacles, orthoptic exercises, or tinted lenses. Participants completed three questionnaires (Glasgow Sensory Questionnaire, Visual Function Index and Convergence Insufficiency Symptoms Survey) at the start and end of the study to assess the impact of treatment. RESULTS: Relative to population norms, a notable proportion of participants had: a significant change in refractive correction (83.3%); accommodative infacility (72.7%); convergence insufficiency (37.5%); uncompensated distance dissociated heterophoria (33.3%); significant accommodative inaccuracy (27.2%); and positive pattern glare (25%). All participants required treatment. 16.7% were given orthoptic exercises only. New spectacles were dispensed to 79.2%, followed by 16.7% requiring orthoptic exercises and 4.2% dispensed tinted lenses. Questionnaire scores did not significantly change post-treatment. CONCLUSION: This exploratory study suggests autistic adults may be more likely to present with refractive, ocular motor and pattern glare issues. Impacts on autistic visual sensory experiences, vision-related quality of life and visual function remain unclear. Pattern Glare Test scores of autistic adults appear to be reduced by appropriate refractive and/or ocular motor management. Therefore, optometrists should take a conservative approach, managing refraction and ocular motor status of autistic patients prior to considering tinted lenses.

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17. Shi K, Liu Q, Ji Q, He Q, Zhao XM. MicroHDF: predicting host phenotypes with metagenomic data using a deep forest-based framework. Brief Bioinform. 2024; 25(6).

The gut microbiota plays a vital role in human health, and significant effort has been made to predict human phenotypes, especially diseases, with the microbiota as a promising indicator or predictor with machine learning (ML) methods. However, the accuracy is impacted by a lot of factors when predicting host phenotypes with the metagenomic data, e.g. small sample size, class imbalance, high-dimensional features, etc. To address these challenges, we propose MicroHDF, an interpretable deep learning framework to predict host phenotypes, where a cascade layers of deep forest units is designed for handling sample class imbalance and high dimensional features. The experimental results show that the performance of MicroHDF is competitive with that of existing state-of-the-art methods on 13 publicly available datasets of six different diseases. In particular, it performs best with the area under the receiver operating characteristic curve of 0.9182 ± 0.0098 and 0.9469 ± 0.0076 for inflammatory bowel disease (IBD) and liver cirrhosis, respectively. Our MicroHDF also shows better performance and robustness in cross-study validation. Furthermore, MicroHDF is applied to two high-risk diseases, IBD and autism spectrum disorder, as case studies to identify potential biomarkers. In conclusion, our method provides an effective and reliable prediction of the host phenotype and discovers informative features with biological insights.

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18. Sousa C, Tsvetkova P, Pérez-Fuster P, Agius M, Kostova S, Bolesta K, Megda Garcia F, Nanchen B, Tkaczyk AH. Social Inclusion for People with Intellectual Disability and on the Autism Spectrum through Assistive Technologies: Current Needs and Future Priorities. Disabil Rehabil Assist Technol. 2024: 1-13.

CONTEXT: Contemporary technologies, such as mainstream and specialised Assistive Technologies (ATs), are seen as effective. However, there is a noticeable gap between technological progress and the ability to customise these technologies to meet the unique needs and characteristics of neurodivergent individuals, particularly those on the Autism Spectrum and people with Intellectual Disability (pwID). PURPOSE: The goal of this study is to investigate the present requirements and future priorities acknowledged by specialists in the field regarding the progress of social inclusion for this population, making use of ATs. METHODS AND RESULTS: A qualitative survey involving 24 international experts, and its respective thematic analysis reveals challenges in social inclusion, emphasizing communication and physical accessibility, awareness gaps, and stigma. Concurrently, issues surrounding ATs include limited access, insufficient training, and a lack of awareness and skills, with individuals, and families being inadequately involved. CONCLUSION AND IMPLICATIONS: The study proposes strategies for overcoming these challenges, with a focus on accessibility, awareness, skills, family involvement, and customization. Identified research needs encompass scientific development, inclusive approaches, and changes in technological development paradigms. Customization and Accessibility of Assistive Technologies (ATs): The research emphasizes the critical gap between existing ATs and their alignment with the needs of people with Intellectual Disability (pwID) and those on the autism spectrum. This is crucial for rehabilitation since its effectiveness is based on the consideration of individual requirements. In this sense, the present study involves enhancing the adaptability of technologies to support varied communication styles and learning abilities, thereby promoting greater independence and participation in daily activities, also through rehabilitation.Policy and Infrastructure Development: In an innovative manner, the study points out the systemic challenges, including inadequate policies and lack of support infrastructure, that hinder the effective use of ATs. For rehabilitation practices to be impactful, there is a need for policy reform and infrastructure development that prioritizes the provision and integration of ATs into education, employment, and community living. This includes ensuring funding for AT acquisition, creating inclusive educational and work environments, and improving public spaces to accommodate the needs of pwID and on the autism spectrum.Involvement of Individuals and Families in the AT Development Process: The paper highlights the limited involvement of individuals with ID and on the autism spectrum, and their families, in the process of developing and selecting ATs. Therefore, an important implication for rehabilitation is the need to adopt a person-centred approach that actively involves these individuals and their families in decision-making processes and, whenever possible, in co-creation processes. This approach ensures that AT solutions are better suited to the users’ preferences, challenges, and daily life contexts, thereby enhancing the effectiveness of technological aids in supporting social inclusion and autonomy.Adoption of Qualitative, In-Depth Methods in AT Research: The adoption of qualitative research methods in disability and health research significantly contributes to the development of human-centred, context-driven, and personalized technologies and rehabilitation strategies. eng.

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19. van Eck RM, Orriëns LB, Delsing CPA, van den Hoogen FJA, Erasmus CE, van Hulst K. Negative effects on oral motor function after submandibular and parotid botulinum neurotoxin A injections for drooling in children with developmental disabilities. Dev Med Child Neurol. 2024.

AIM: To evaluate negative effects on oral motor function after concurrent submandibular and parotid (four-gland) botulinum neurotoxin A (BoNT-A) injections as a treatment for paediatric drooling. METHOD: This was a retrospective cohort study of 125 children (median age 7 years 7 months [interquartile range 4 years 5 months]) with developmental disabilities, including cerebral palsy, treated with four-gland injections. Most children (90.4%) were previously exposed to submandibular injections. Frequency, severity, and duration of negative effects on oral motor function (i.e. saliva swallowing, eating, drinking, articulation) were evaluated and compared to a reference cohort treated with submandibular injections. RESULTS: Negative effects on oral motor function were reported in 45 children (36.0%), predominantly manifesting as eating-related problems (64.4%). Most negative effects (62.2%) were classified as mild and resolved within 4-weeks post-injunction (53.3%). Compared to the reference cohort, frequency (36.0% vs 33.0%) and duration (53.3% vs 53.6% resolving within 4 weeks) of negative effects were comparable, although problems were more often moderately severe (33.3% vs 10.1%). INTERPRETATION: While negative effects on oral motor function were relatively common after four-gland BoNT-A injections, most problems were mild and resolved promptly. No substantial differences to a reference cohort treated with submandibular injections were observed, although further research should establish the generalizability of these findings in a treatment-naive population. Nevertheless, when submandibular injections prove ineffective, clinicians can confidently consider four-gland injections.

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20. Washington-Nortey M, Angwenyi V, Demissie M, Mwangome E, Eshetu T, Negussie H, Goldsmith K, Healey A, Feyasa M, Medhin G, Belay A, Azmeraw T, Getachew M, Birhane R, Nasambu C, Kifle TH, Kairu A, Mkubwa B, Girma F, Abdurahman R, Tsigebrhan R, Tesfaye L, Mbonani L, Seward N, Charman T, Pickles A, Salomone E, Servili C, Barasa E, Newton CR, Hanlon C, Abubakar A, Hoekstra RA. Supporting African communities to increase resilience and mental health of kids with developmental disabilities and their caregivers using the World Health Organization’s Caregiver Skills Training Programme (SPARK trial): study protocol for a cluster randomised clinical controlled trial. Trials. 2024; 25(1): 713.

BACKGROUND: Most children with developmental disabilities (DD) live in low- and middle-income countries, but access to services is limited, impacting their ability to thrive. Pilot study findings of the World Health Organization’s Caregiver Skills Training (WHO CST) intervention, which equips caregivers with strategies to facilitate learning and adaptive behaviours in children with DD, are promising but evidence from an appropriately powered trial delivered by non-specialist facilitators is lacking. This study will investigate the effectiveness and the resource impacts and costs and consequences of the WHO CST intervention in four sites in rural and urban Kenya and Ethiopia. METHODS: This is a 2-arm multi-site hybrid type-1 effectiveness implementation cluster randomised controlled superiority trial. After baseline assessments (T0) are completed by participants in clusters comprising 7 to 10 caregiver-child dyads, the clusters will be randomised to either the WHO CST intervention arm or a waitlist enhanced care as usual control arm. Further assessments will be completed at endpoint (T1, 18 ± 2 weeks after randomisation) and follow-up (T2, 44 ± 2 weeks after randomisation). The intervention comprises three individualised home visits and nine group sessions with trained non-specialist facilitators. Participants in the control arm will receive the intervention after completing follow-up assessments. We aim to recruit 544 child-caregiver dyads, evenly distributed across the two arms and countries. The co-primary outcomes are the child-focused Child Behavior Checklist (assessing emotional and behavioural problems) and the caregiver-focused Pediatric Quality of Life Inventory (assessing caregiver quality of life), both assessed at endpoint. Secondary outcome measures comprise the two co-primary outcomes at follow-up and ten additional outcome measures at endpoint, assessing stigma-based experiences, depressive symptoms, household food insecurity, child disciplinary strategies and beliefs, CST knowledge and skill competencies, caregiver and child quality of life, social support, and children’s communication modes and functions. After quantitative follow-up assessments are completed, a mixed-methods evaluation approach will be used to investigate implementation processes and acceptability, feasibility, and potential sustainability of the intervention. DISCUSSION: The study’s findings will provide evidence of the effectiveness and resource impacts and costs and consequences of a non-specialist-delivered intervention in under-resourced contexts in one low-income and one middle-income country in East Africa. Findings will inform future research, intervention, and policy efforts to support children with DD and their families in under-resourced majority world contexts. TRIAL REGISTRATION: Pan African Clinical Trial Registry PACTR202310908063134. Registered on October 16, 2023.

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21. Yoshida F, Nagatomo R, Utsunomiya S, Kimura M, Shun S, Kono R, Kato Y, Nao Y, Maeda K, Koyama R, Ikegaya Y, Lichtenthaler SF, Takatori S, Takemoto H, Ogawa K, Ito G, Tomita T. Soluble form of Lingo2, an autism spectrum disorder-associated molecule, functions as an excitatory synapse organizer in neurons. Transl Psychiatry. 2024; 14(1): 448.

Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social communication and repetitive behaviors. In recent years, a pharmacological mouse model of ASD involving maternal administration of valproic acid (VPA) has become widely used. Newborn pups in this model show an abnormal balance between excitatory and inhibitory (E/I) signaling in neurons and exhibit ASD-like behavior. However, the molecular basis of this model and its implications for the pathogenesis of ASD in humans remain unknown. Using quantitative secretome analysis, we found that the level of leucine-rich repeat and immunoglobulin domain-containing protein 2 (Lingo2) was upregulated in the conditioned medium of VPA model neurons. This upregulation was associated with excitatory synaptic organizer activity. The secreted form of the extracellular domain of Lingo2 (sLingo2) is produced by the transmembrane metalloprotease ADAM10 through proteolytic processing. sLingo2 was found to induce the formation of excitatory synapses in both mouse and human neurons, and treatment with sLingo2 resulted in an increased frequency of miniature excitatory postsynaptic currents in human neurons. These findings suggest that sLingo2 is an excitatory synapse organizer involved in ASD, and further understanding of the mechanisms by which sLingo2 induces excitatory synaptogenesis is expected to advance our understanding of the pathogenesis of ASD.

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22. Yoshizawa S, Ohashi K, Sugihara T. Urethral keratosis caused by vitamin A deficiency: two case reports. BMC Pediatr. 2024; 24(1): 676.

BACKGROUND: Dysuria in children can have various etiologies, including ureteric stones, phimosis, congenital obstructive posterior urethral membrane, and neurogenic bladders. However, there have been no reports of vitamin A deficiency (VAD) causing dysuria due to urethral keratosis. Here, we report two cases of urethral keratosis caused by a VAD. CASE PRESENTATION: An 8-year-old boy (Patient 1) and a 6-year-old boy (Patient 2) presented with multiple episodes of dysuria and epididymitis. Both patients had intellectual disabilities and autism, which prevented voiding cystourethrography. Therefore, the patient was admitted for cystoscopy under general anesthesia. Cystoscopy revealed urethral diastolic dysfunction and a large amount of desquamated epithelium obstructing the urethra in both patients, causing urinary obstruction and dysuria. Catheterization was repeated; however, the symptoms recurred after catheter removal. Although the cause of recurrent urinary obstruction could not be initially identified, an ophthalmologist found Bitot’s spots and suggested the possibility of a VAD. Serum vitamin A levels were extremely low in both patients, leading to the diagnosis of urethral keratosis due to VAD. VAD can be attributed to an unbalanced diet resulting from intellectual disabilities or autism. Vitamin A replacement therapy improved both the urethral symptoms and cystoscopic findings. CONCLUSION: Dysuria due to VAD is extremely rare, and urethral keratosis as a cause of dysuria is likely the first report of its kind worldwide. VAD may develop due to an unbalanced diet in patients with intellectual disabilities or autism. Therefore, it is essential to consider VAD as a potential cause of dysuria in patients with intellectual disabilities and autism.

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