1. Al-Mazidi S. Molecular physiology unlocks the mystery that relates cognitive impairment with the retina in schizophrenia and autism spectrum disorders: a perspective review. Front Psychiatry. 2024; 15: 1495017.

Schizophrenia and Autism spectrum disorders (SSD and ASD) are neurodevelopmental disorders involving cognitive impairment. Timely diagnosis is important for early intervention; currently, no tools are available to help with early diagnosis. Molecular biomarkers of cognitive impairment have been extensively studied, but clinical correlation is crucial in screening for cognitive impairment in SSD and ASD. There has been growing interest in examining the retina to scan for neurological disorders since the retina is the only part of the central nervous system that can be directly imaged non-invasively and in a timely manner. This review discusses biomarkers of cognitive impairment and their correlation to the retina in SSD and ASD. It also discusses the possible involvement of the retina and molecular biomarkers, specifically Disintegrin and metalloproteinase domain-containing protein 10 (ADAM10) and ciliary neurotrophic factor (CNTF) in the pathophysiology of SSD and ASD. A protocol for early diagnosing cognitive impairment and its severity in SSD and ASD is also suggested. This review also mentions insights into the potential use of molecular biomarkers of cognitive impairment to enhance cognitive performance in ASD and SSD and areas where more research is needed to solve the mystery of the relationship between the retina and cognitive impairment in neurodevelopmental psychiatric disorders.

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2. Al-Rikabi AM, Atya AT, Gazar NJ, Almaliki MS, Omran HM. Evaluating Autism Risk Factors and Their Impact on Children in Thi-Qar, Iraq. Cureus. 2024; 16(10): e72433.

Background Autism is a neurodevelopmental disorder marked by difficulties in social communication, language, restricted interests, and repetitive behaviors. Aim This study aims to identify potential risk factors for autism among children and assess their effects on early developmental skills. Methods A case-control study was conducted from September 2022 to September 2023, involving 298 children with autism (265 boys, 33 girls) aged four to 12 from the Thi-Qar Autistic Children Center and private clinics in Iraq. A control group of 300 children (150 boys, 150 girls) was also included. Data were collected through a specialized questionnaire covering demographics, neonatal history (e.g., jaundice, birth asphyxia), parental age, and developmental skills (motor milestones, speech, handwriting). Results Among the 298 children with autism enrolled, 265 (89%) were boys and 33 (11%) were girls. Children with autism had a positive family history of autism in 207 (69%) compared to 15 (5%) in the control group (p < 0.001). Paternal age over 35 years at the time of birth was noted in 159 (53%) versus 75 (25%) for the control group (p < 0.001). Maternal age over 35 showed no significant difference (p = 0.23). Hypoxia at birth was present in 153 (51%) children with autism compared to 45 (15%) in the control group (p = 0.001). Significant developmental delays were observed, including speech defects in 210 (70%) children with autism versus 15 (5%) in controls (p < 0.001). In terms of handwriting, 240 (80%) children with autism demonstrated acceptable handwriting skills, while 60 (20%) did not, compared to 264 (88%) in the control group who achieved handwriting skills, resulting in a p-value of 0.23. Conclusions The findings indicate that boys are more affected than girls, with significant risk factors including family history, paternal age, and neonatal birth asphyxia. Children with autism demonstrated marked delays in motor skills and speech defects, emphasizing the need for early detection and intervention.

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3. Black MH, Bölte S. Eating Disorder Treatments Are Less Effective for Autistic Populations: Proposing Steps Toward Improving Outcomes. Int J Eat Disord. 2024.

The recent mixed-methods review by Nimbley et al. (2024) raises important and concerning, yet not unexpected, insights into the usefulness of eating disorder (ED) treatment for autistic populations. In their review, Nimbley et al. find that ED treatments may be less effective for autistic groups, proposing a need for a greater understanding of ED in autistic populations, and more autism-informed measures and interventions for EDs. We take the opportunity in this commentary to further expand on the next steps that must be taken to inform future ED interventions for autistic populations. We reflect on similar observations of the impact of co-occurrence on intervention efficacy in autism, draw on contemporary movements in relation to interventions in the context of autism, and align with the conclusions of Nimbley et al., who propose that future ED interventions may need to be tailored to autistic populations. We present participatory and co-creation research approaches as a means to achieve this.

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4. Brandes-Aitken A, Powers R, Wren J, Chu R, Shapiro KA, Steele M, Mukherjee P, Marco EJ. Sensory processing subtypes relate to distinct emotional and behavioral phenotypes in a mixed neurodevelopmental cohort. Sci Rep. 2024; 14(1): 29326.

Children with autism and other neurodevelopmental concerns (NDC) frequently exhibit an array of sensory processing dysfunction phenotypes, posing a significant challenge their adaptive development. Additionally, these children often encounter difficulties with self-regulation, including emotion dysregulation, anxiety, and symptoms associated with attention and hyperactivity. However, further research is required to comprehend how patterns of sensory processing differences across neurodevelopmental conditions may contribute to regulatory control problems. Adopting a transdiagnostic perspective within the Research Domain Criteria (RDoC) framework, this study examined the relationship between clusters of sensory processing phenotypes and differential patterns of self-regulation behaviors. We recruited a sample of 117 participants (8-12 years) with a diverse range of neurodevelopmental concerns including autism, ADHD, anxiety, and sensory processing differences. This study aimed to (1) establish the prevalence of self-regulation problems in a community-recruited cohort of children with diverse NDCs; (2) construct data-driven sensory processing latent subtypes; (3) investigate group differences in emotion dysregulation, anxiety, and ADHD symptoms. Results showed that 39% of NDC children met clinically concerning thresholds for emotion dysregulation, 19% for anxiety, and 62% for ADHD. Second, latent profile analysis identified five sensory processing subtypes categorized by modality: Typical Processing, Intermediate/Mixed, Sensory Over-Responsive, Sensory Seeking, and Sensory Under-Responsive. Notably, the Sensory Over-Responsive group exhibited distinctively elevated anxiety scores, while the Sensory Seeking and Sensory Under-Responsive groups showed heightened ADHD scores. Intriguingly, the Sensory Over-Responsive, Sensory Under-Responsive, and Sensory Seeking subgroups all demonstrated elevated emotion dysregulation scores, suggesting a potential shared mechanism of emotion dysregulation that might elucidate the connection between sensory processing differences and increased anxiety and ADHD behaviors in children with autism and other NDCs.

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5. Campbell K, Wallis KE, El-Messidi Hampton L, Burnham A, Mercer-Rosa L, Miller O, Mazza L, Diekroger E, Fogler J. Complex Attention-Deficit Hyperactivity Disorder in a 4-Year-Old With Repaired Critical Congenital Heart Disease and Autism Spectrum Disorder. J Dev Behav Pediatr. 2024.

BACKGROUND: Congenital heart disease (CHD) is a risk factor for developmental delay and for attention-deficit hyperactivity disorder (ADHD). The Cardiac Neurodevelopmental Outcome Collaborative has developed recommendations for ongoing monitoring of this at-risk population to be able to detect developmental, learning, and behavioral concerns, as they become apparent as a child ages. CASE PRESENTATION: A 4-year-old boy with tetralogy of Fallot with a ventricular septal defect repaired in infancy was followed periodically in the cardiac neurodevelopmental follow-up clinic and diagnosed with autism spectrum disorder as well as additional developmental and medical issues. He received early childhood special education and therapeutic interventions as well as social skills training and applied behavior analysis. At age 4 years, Alex presented with symptoms of hyperactivity, inattention, impulsivity, and immediate safety concerns for elopement. The clinician diagnosed him with ADHD-combined type. He was recommended to start medication in addition to behavioral and developmental supports. Managing medications in a child with CHD and ADHD presents unique challenges, and medication decisions were carefully made in collaboration with the child’s cardiologist. After some medication adjustments and ongoing behavioral therapy to address behaviors associated with ADHD and autism spectrum disorder, the child is doing well academically and socially. CONCLUSION: Attention-deficit hyperactivity disorder medications can be safely prescribed in patients with CHD. However, pharmacotherapy for co-occurring ADHD and CHD needs an additional level of oversight and collaboration between cardiology and prescribing clinicians. Behavioral therapies can be transdiagnostic and address challenges associated with autism and symptoms related to ADHD.

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6. Carroll B, Bordes Edgar V, Bar SH, Call CR, Nyp SS. Selective Mutism in the Context of Autism and Bilingualism. J Dev Behav Pediatr. 2024.

Juan is a 5-year-old boy who has been followed by a developmental-behavioral pediatrician and pediatric neuropsychologist since being diagnosed with language delay and autism spectrum disorder at age 2 years. He is otherwise healthy and was born at term after a healthy pregnancy. His primary language is Spanish, and he has minimal interactions in English. His first words were at 20 months; they were not functional but rather words related to his interests such as « train. » He began using 2 to 3-word phrases shortly after but only to request needs. He began speaking in complete sentences at age 4 years.A neuropsychological evaluation was conducted at age 2 years during which Juan demonstrated repetitive behaviors such as hand-flapping, toe-walking, body rocking, and head banging. He displayed sensory seeking behaviors such as rubbing items on his face and close visual inspection. He did not respond to his name and his use of eye contact was inconsistent. He demonstrated rigidity and difficulty transitioning between activities. He did not engage in social reciprocity, and his facial expressions were limited. Minimal spontaneous language was observed, and expressive language largely consisted of echolalia in both languages. Juan was diagnosed with autism spectrum disorder and applied behavior analysis, speech and language therapy, and occupational therapy were recommended.Developmental-behavioral follow-up over the next 2 years noted improvements in behavior, transitions, and social interactions. He participated in early childhood intervention and early childhood special education with significant advances for speech and language in English and Spanish, demonstrating a large vocabulary. At 4 years, parents noted Juan to have reluctance to speak in English. He stopped speaking in English entirely for 3 weeks, though he continued to speak in Spanish. When he resumed speaking in English, it was only with people he knew well (e.g., parents, teachers, babysitter). In clinic, he did not speak to the English-speaking developmental-behavioral pediatrician but spoke in short sentences to the Spanish-speaking neuropsychologist.A repeat neuropsychological evaluation completed at age 5 years revealed that Juan had stopped speaking in English completely, even among those previously deemed « safe. » Results were consistent with average cognitive abilities with a strength in verbal skills. Juan’s single-word vocabulary in Spanish was exceptionally high. He did not provide expressive responses in English, but his receptive English vocabulary was high average. He responded to English language with nonverbal gestures or spoken language in Spanish. Parents reported Juan to display increased anxiety accompanied by extreme school refusal, behavioral difficulties, and reluctance to leave the home.Given this information, what are your diagnostic considerations and treatment recommendations?

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7. Chamtouri M, Merghni A, Miranda-Cadena K, Sakly N, Gaddour N, de Los Reyes-Gavilán CG, Mastouri M, Eraso E, Quindós G. Characterization of Yeast Isolated from the Gut Microbiota of Tunisian Children with Autism Spectrum Disorder. J Fungi (Basel). 2024; 10(11).

Research on the microbiota-gut-brain axis in autism has primarily focused on bacteria, with limited attention to fungi. There is a growing interest in understanding the involvement of fungi, particularly Candida, in patients with autism spectrum disorder. The aim of this study was to assess the prevalence, antifungal susceptibility profiles and virulence factors of Candida isolates from the guts of Tunisian children with autism. Twenty-eight children with autism and forty-six controls were enrolled. Candida isolates from the faecal samples were identified using biochemical and molecular methods; antifungal susceptibility testing was determined by the EUCAST broth microdilution method and virulence factors, including biofilm formation, cell surface hydrophobicity and phospholipase and proteinase activities, were assessed in vitro. As a result, Candida was detected in 13 children with autism (46.4%) and 14 control children (30.4%). Candida albicans was found to be the most common species isolate in the faeces of both groups of children. Antifungal susceptibility profiles showed that one Candida isolate was resistant to amphotericin B and anidulafungin (3.7%), six were resistant to micafungin (22.2%) and five were resistant to fluconazole (18.5%). All Candida isolates were biofilm producers. Of the twenty-seven isolates, only four showed phospholipase activity (14.8%), eight showed aspartyl-proteinase activity (29.6%) and nine were hydrophobic (33.3%). These results highlight the presence of Candida in the guts of children with autism, as well as the ability to express multiple virulence factors and the antifungal resistance, and they emphasize the need for further studies to confirm intestinal Candida colonization and its potential role in autism.

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8. Cohen O, Sukenik N. Mathematical Proficiency in Adolescents with ASD. J Autism Dev Disord. 2024.

This study aimed to investigate the mathematical abilities of adolescents with Autism Spectrum Disorder (ASD) compared to typically developing (TD) peers, focusing on procedural thinking, arithmetic comprehension, and algebraic technique. Sixty-seven adolescents (31 with ASD, 36 TD) participated in the study. A comprehensive mathematics skills test, incorporating oral and written components, was individually administered to assess abilities across three main mathematical domains. The study employed a mixed-methods approach, combining quantitative analyses of group differences with qualitative assessments of response patterns. Significant differences were observed between ASD and TD groups across most mathematical measures, with TD adolescents generally outperforming those with ASD. Large effect sizes were noted in procedural thinking and algebraic procedures. However, no significant differences were found in word problem-solving. Within the ASD group, considerable variability was observed, with some individuals demonstrating age-appropriate mathematical abilities while others showed consistently low performance across all domains. The study highlights the complex nature of mathematical abilities in adolescents with ASD, characterized by significant group differences and within-group variability. These findings highlight the importance of individualized approaches in mathematical education for adolescents with ASD and emphasize the need for early identification and targeted interventions to address specific challenges in mathematical learning.

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9. Dimov S, Shields M, Dickinson H, Kavanagh AM, White B, Sutherland G. Mental health and post-school transitions for young people with Intellectual and Developmental Disabilities (IDD): A scoping review. J Child Adolesc Ment Health. 2024: 1-30.

Background: Young people with an Intellectual and Developmental Disability (IDD) often face ineffective and exclusionary post-school transition practices, leading to poor mental health in early adulthood.Objective: This scoping review aimed to map existing literature on mental health for young people with IDD during the post-school transition period including how IDD and mental health are characterised in this context and the extent to which community members with lived experience are included in the design and/or production of research.Methods: In collaboration with a co-researcher, we used the JBI framework and PRISMA guidelines in accordance with a published protocol. A tiered search was conducted in PsycINFO, Medline, ERIC, Web of Science, and Family and Society Studies Worldwide.Findings: The search identified 28 articles that met the inclusion criteria. Articles were published between 2011 and 2023 and conducted across four countries. Thirteen applied a quantitative study design, eight were qualitative, three used a mixed-methods design, and the remaining were reviews. Most articles focused on autism. The majority discussed mental health in terms of its impact on transitioning from school or as a co-occurring condition.Conclusions: There is a growing body of literature highlighting the challenges young people with disabilities face when transitioning from high school. However, there is a notable gap in the representation of diverse IDD populations and mental health emerged variably, often as an incidental finding rather than a primary focus.

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10. Fatoba A, Simpson C. Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach. Autism Res. 2024.

The association between celiac disease (CD) and autism spectrum disorder (ASD) remains inconclusive. Reports from different observational studies have become controversial, necessitating exploration of the causal relationship between CD and ASD. To assess true causality, this study used a two-sample Mendelian randomization (MR) analysis to determine the causal association between CD and ASD. Summary-level data from a genome-wide association study (GWAS) of the European population were used to select instrument variables (IVs) at genome-wide significance (p < 5 × 10(-8)). The strength of IVs was also evaluated with F-statistics. The inverse variance weighted method (IVW) was the primary MR analysis, supported by other MR tests such as the weighted median method and weighted mode. The presence of horizontal pleiotropy was tested with MR-Egger and MR-PRESSO while other sensitivity analyses such as heterogeneity, leave-one-out analysis, and scatterplot were used to assess the validity of our MR results. Our study did not show an association between CD and ASD (OR, 0.994; 95% CI, 0.935-1.057; p = 0.859). There was also no evidence of horizontal pleiotropy (MR-Egger intercept = 0.015; p-value = 0.223) and heterogeneity (Q = 14.029; p-value = 0.051). These results were also complemented by the leave-one-out analyses, forest plot, and scatter plot, which showed that none of the SNPs influenced the result. The result of this study shows that CD is not causally associated with ASD.

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11. Gotto GS, Bohall J, Northrup R, Errichetti CL, Chiang D, van Stone M, Jones E, Meck M, Kalb L. Transferable lessons for care provided to children with intellectual and developmental disabilities based on an analysis of facilitators and barriers to SARS-CoV-2 testing. Front Pediatr. 2024; 12: 1449255.

INTRODUCTION: The purpose of this article is to report on the lessons learned from parents and caregivers of school-age children with intellectual and developmental disabilities (IDD) in Missouri and Maryland regarding the facilitators and barriers to SARS-COV-2 testing. METHODS: Parents participated in interview sessions that employed fuzzy cognitive mapping (FCM), a reliable knowledge-based method that facilitates democratic discourse to understand how stakeholders make decisions. A total of 94 parents from Missouri (58) and Maryland (36) participated in the FCM sessions. RESULTS: Eight primary barriers and eight primary facilitating factors were identified that influence a successful SARS-COV-2 test. Analyzing the connections between these factors provided valuable information about not only which ideas were most central to the goal of a successful test, but also which factors could be modified to improve the likelihood of success. Results indicate that the physical environment and child preparedness play a central role in successful SARS-COV-2 testing for children with IDD; however, these factors within the context of other invasive procedures should be studied further. DISCUSSION: It is likely that the findings from this study are transferable to other diagnostic procedures such as influenza, respiratory syncytial virus (RSV), and methicillin-resistant Staphylococcus aureas (MRSA), which require similar testing techniques using a nasopharyngeal swab.

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12. Hernández-Capistrán J, Alor-Hernández G, Marín-Vega H, Bustos-López M, Sanchez-Morales LN, Sanchez-Cervantes JL. Commercial Wearables for the Management of People with Autism Spectrum Disorder: A Review. Biosensors (Basel). 2024; 14(11).

Autism Spectrum Disorder (ASD) necessitates comprehensive management, addressing complex challenges in social communication, behavioral regulation, and sensory processing, for which wearable technologies offer valuable tools to monitor and support interventions. Therefore, this review explores recent advancements in wearable technology, categorizing devices based on executive function, psychomotor skills, and the behavioral/emotional/sensory domain, highlighting their potential to improve ongoing management and intervention. To ensure rigor and comprehensiveness, the review employs a PRISMA-based methodology. Specifically, literature searches were conducted across diverse databases, focusing on studies published between 2014 and 2024, to identify the most commonly used wearables in ASD research. Notably, 55.45% of the 110 devices analyzed had an undefined FDA status, 23.6% received 510(k) clearance, and only a small percentage were classified as FDA Breakthrough Devices or in the submission process. Additionally, approximately 50% of the devices utilized sensors like ECG, EEG, PPG, and EMG, highlighting their widespread use in real-time physiological monitoring. Our work comprehensively analyzes a wide array of wearable technologies, including emerging and advanced. While these technologies have the potential to transform ASD management through real-time data collection and personalized interventions, improved clinical validation and user-centered design are essential for maximizing their effectiveness and user acceptance.

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13. Huang L, Wang M, Huang W, Zhang M, He W. Exercise and autism spectrum disorder: Further considerations on cognitive and emotional impacts. Autism Res. 2024.

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14. Kariminezhad S, Zomorrodi R, Zrenner C, Blumberger DM, Ameis SH, Lin HY, Lai MC, Rajji TK, Lunsky Y, Sanches M, Desarkar P. Assessing plasticity in the primary sensory cortex and its relation with atypical tactile reactivity in autism: A TMS-EEG protocol. PLoS One. 2024; 19(11): e0305013.

BACKGROUND: Atypical sensory reactivity is a cardinal presentation in autism. Within the tactile domain, atypical tactile reactivity (TR) is common, it emerges early, persists into adulthood, and impedes social interaction and daily functioning. Hence, atypical TR is a key target for biological intervention to improve outcomes. Brain mechanisms informing biological interventions for atypical TR remains elusive. We previously reported hyper-plasticity in the motor cortex in autistic adults and found that repetitive transcranial magnetic stimulation (rTMS), designed to strengthen inhibitory processes in the brain, reduced hyper-plasticity. Whether the primary sensory cortex (S1) is characterized by hyper-plasticity, which may underlie atypical TR in autism is unknown. OBJECTIVES: We aim to test whether hyper-plasticity in the S1 underlies atypical TR in autism, and investigate if a single session of rTMS can safely reduce hyper-plasticity in S1 in autistic adults. METHOD: Plasticity will be assessed in the left S1 with integrated paired associative stimulation and electroencephalography (PAS-EEG) paradigm in 32 autistic adults and 32 age-, sex-, and intelligence quotient-matched controls. Autistic participants will be further randomized (double-blind, 1:1) to receive a single-session of either sham or active 20 Hz bilateral rTMS over the S1 and the plasticity will be re-assessed over the left S1 on the same day. CONCLUSIONS: Atypical TR has been identified as one of the top clinical research priorities that can influence outcome in autistic population. The study findings can be highly valuable to further elucidate the mechanism underlying atypical TR, which in turn can help with developing a mechanism-driven intervention.

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15. Klavina A, Pérez-Fuster P, Daems J, Lyhne CN, Dervishi E, Pajalic Z, Øderud T, Fuglerud KS, Markovska-Simoska S, Przybyla T, Klichowski M, Stiglic G, Laganovska E, Alarcão SM, Tkaczyk AH, Sousa C. The use of assistive technology to promote practical skills in persons with autism spectrum disorder and intellectual disabilities: A systematic review. Digit Health. 2024; 10: 20552076241281260.

Persons with autism spectrum disorder (ASD) and/or intellectual disability (ID) have difficulties in planning, organising and coping with change, which impedes the learning of daily living skills (DLSs), social participation and self-management across different environmental settings. Assistive technologies (ATs) is a broad term encompassing devices and services designed to support individuals with disabilities, and if used in a self-controlled manner, they may contribute inclusion in all domains of participation. This comprehensive literature review aims to critically assess and unify existing research that investigates the use of assistive technology within the practical domain for individuals with ASD and/or ID. The 18 relevant studies included in this review highlighted the benefits of AT for social participation and independence in daily activities of individuals with ASD and/or ID. Professionals working with this target group should be knowledgeable of the speedy progress of AT products and the potential of persons with ASD and/or ID to use mainstream devices to meet their individual needs. This awareness provides an opportunity to advocate for the universal benefits of AT for everyone. Technologies such as virtual reality, mobile applications and interactive software have been shown to improve DLSs, communication and social interaction. These tools offer engaging, user-friendly platforms that address the specific needs of these individuals, enhancing their learning and independence.

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16. Kuo CY, Liu CH, Huang YC, Liang SH, Lin HY, Ni HC. Psychometric properties of the Taiwan version of Emotion Dysregulation Inventory in Autism Spectrum Disorder. J Formos Med Assoc. 2024.

BACKGROUND: While the Emotion Dysregulation Inventory (EDI) for autistic people has been validated in many Western countries, its psychometric properties have remained unclear in East Asia. METHODS: We translated the EDI into traditional Chinese and evaluated its psychometric properties among autistic children and youth in Taiwan. We enrolled 200 participants (182 male/18 female) aged 7-30 years from five clinical trials and conducted secondary analyses, assessing internal consistency reliability, confirmatory factor analysis, and convergent validity. RESULTS: Our results showed that the Taiwan version of the EDI had strong internal consistency (Cronbach’s alpha are 0.978 and 0.864 for each factor). Confirmatory factor analysis demonstrated acceptable fit of two-factors structure. The Taiwan version of EDI showed good convergent validity with established measurements including the Aberrant Behavior Checklist-Irritability subscale and Child Behavior Checklist-Dysregulation Profile. CONCLUSION: Our findings support the Taiwan version of EDI is a reliable and potentially valid instrument for assessing emotion dysregulation in autistic children and youth in Taiwan.

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17. Loesch DZ, Chafota F, Bui MQ, Storey E, Atkinson A, Martin NG, Gordon SD, Rentería ME, Hagerman RJ, Tassone F. Parkinson’s Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier. Mol Genet Genomic Med. 2024; 12(11): e70043.

BACKGROUND: Premutation alleles of the FMR1 X-linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late-onset neurological involvements, including most severe disorder termed Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). It is intriguing that at least one-third of male, and a much lower than predicted from the X-linkage proportion of female carriers are free of this syndrome. This suggests the existence of secondary genetic factors modifying the risk of neurological involvements in these carriers. Considering the occasional presence of parkinsonian features in FXTAS, we explored the possibility that the Parkinson’s Disease Polygenic Risk Score (PD PRS) is related to the occurrence of FXTAS or less severe neurological involvements, in premutation carriers. METHODS: The Genome-wide SNP genotyping and clinical data on neurological status were obtained from 250 unrelated affected and non-affected male and female adult carriers of the premutation. The medians for the Parkinson’s Disease Polygenic Risk Score (PD PRS) were compared between the groups of asymptomatic and neurologically affected carriers, and the association of PD PRS with neurological involvement in context with the other known risk factors was explored by fitting univariate and multiple logistic regression models. RESULTS: There was a significant difference between the medians from the asymptomatic versus neurologically affected (FXTAS+) groups (p = 0.009). The FXTAS+ status was significantly associated with age at testing (p < 0.001), gender (p = 0.026), and with PD PRS (p = 0.021). The contribution of PD PRS remained significant after adjusting for age and gender (p = 0.044). CONCLUSIONS: We have obtained the first evidence for the relationship between PD PRS and the risk of FXTAS or lesser neurological involvements in the FMR1 premutation carriers. This suggests the role of Parkinson's disease polygenic variants as genetic modifiers of the risk of late onset neurological changes in these carriers.

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18. Maggio R, Turriziani L, Suraniti S, Graziano M, Patanè S, Randazzo AM, Passantino C, Di Cara M, Quartarone A, Cucinotta F. Case report: Multicomponent intervention for severe food selectivity in autism spectrum disorder: a single case study. Front Psychiatry. 2024; 15: 1455356.

Food selectivity is common in children with Autism Spectrum Disorder (ASD). The treatment used can be invasive and difficult to implement, necessitating the exploration of multicomponent approaches. This study presents the case of a 9-year-old autistic girl with severe food selectivity, who ate exclusively liquid and semi-solid foods. A multicomponent intervention protocol was developed, including stimulus fading and positive reinforcement techniques, to increase acceptance of new textures and foods. Treatment sessions showed significant improvement in acceptance of semi-solid and novel foods, with a reduction in problem behaviors associated with mealtime. This study suggests that a multicomponent intervention can significantly improve food acceptance and reduce mealtime distress, proving to be a practical and effective treatment strategy in an autistic child. The intervention led to an increase in food acceptance and a reduction in mealtime-related distress, potentially improving the child and family’s quality of life.

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19. Mørdre M, Ørbeck B, Hoel RE, Øvergaard KR. Food selectivity in children and adolescents with autism spectrum disorders – a systematic literature review. Tidsskr Nor Laegeforen. 2024; 144(14).

BACKGROUND: Autism spectrum disorders involve problems with social communication and interaction as well as restricted, repetitive patterns of behaviour and interests. Food selectivity is common among individuals with autism spectrum disorders when their average intellectual ability is below the normal range. This literature review examines the degree to which the same applies for children and adolescents with an intellectual ability level in the normal range. KNOWLEDGE BASE: We undertook searches in the MEDLINE and PsycInfo (Ovid) databases until June 2024 for original papers on the prevalence, characteristics and somatic consequences of food selectivity in autism spectrum disorders. We restricted our searches to studies that included individuals with an intellectual ability in the normal range and/or an autism spectrum disorder for which this is a prerequisite, and with an average age of 6-18 years. The GRADE system was used to rate the quality of the studies. We gave emphasis to consistency between findings, the number of studies and their sizes. RESULTS: The inclusion criteria were met by 20 studies. There was a high prevalence (21-76 %) of food selectivity in those with autism spectrum disorders and an intellectual ability level in the normal range. Sensory sensitivity to food texture and taste were key characteristics (approximately 2-10 times more frequent in children with autism spectrum disorders than in control individuals). While the intellectual ability level was of little importance, autism symptoms were of some significance in respect of the prevalence of food selectivity patterns. The somatic consequences tended to be obstipation and overweight/obesity. Our level of confidence in the studies varied from high (prevalence) to low (somatic consequences). INTERPRETATION: Food selectivity patterns should be surveyed whenever individuals are examined for autism spectrum disorders, irrespective of their intellectual ability level.

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20. Qu W, Yan G, Du Y, Zhou X, Huang C, Li B, Zhou J, Li Q. Crosstalk Between Mitochondrial DNA and Immune Response: Focus on Autism Spectrum Disorder. Mol Neurobiol. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by multiple dysfunctions in behavior, the nervous system, and the immune system. Increasing evidence suggests that mitochondrial DNA (mtDNA) plays a crucial role in the pathology of ASD. In clinical practice, altered mtDNA levels have been observed in various tissues of individuals with ASD. Mutation or oxidation of mtDNA is also closely related to the immune response associated with the pathology of autism. With mtDNA identified as a causal factor, much interest has focused on how its production affects neurodevelopment and neurophysiology. Here, we review how mtDNA leads to dysfunction of cellular mitochondria and immune response. We also illustrate the relationship between mtDNA alterations and the pathology of autism. Finally, we discuss the existing evidence on cell-free mtDNA associated with ASD and look forward to its application in clinical diagnosis and treatment.

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21. Salerno C, Cirio S, Maspero C, Roner M, D’Avola V, Cagetti MG. Parent’s acceptance of advanced behavior management techniques on children during dental treatment. BMC Pediatr. 2024; 24(1): 764.

AIM: This study explores the acceptance of Advanced Behavior Management Techniques (ABMTs) by parents during their children’s dental treatments, comparing the opinion of parents of neurotypical children with that of parents of children with autism spectrum disorders (ASDs). METHODS: An observational cross-sectional study was conducted involving 440 parents, divided into two groups: 236 parents of neurotypical children and 204 parents of children with ASDs, recruited from pediatricians’ centers and centers for ASDs children in Northern and Southern Italy. A survey assessed their familiarity and acceptance of ABMTs, including protective stabilization, conscious sedation, and deep sedation/general anesthesia. Discrete variables were expressed as absolute and relative frequencies (%) and compared with Pearson’s chi-squared or Fisher’s exact test. Continue variables were expressed as mean ± SD and compared with the one-way ANOVA test. Heatmap and PCA analysis were used to determine possible correlations between items. RESULTS: Parents of children with ASDs showed a higher acceptance rate of ABMTs compared to parents of neurotypical children. Overall, only 30.68% of parents knew ABMTs before the survey. Differences between the two groups of parents in acceptance of Active Stabilization in emergency settings, Passive Stabilization in routine settings, and Deep sedation/general anesthesia in both settings were observed (p < 0.01). Only 6.82% of parents ever used at least one ABMT on their children. Heatmap analysis revealed that parents who have accepted one of the ABMTs tend to accept the others as well. CONCLUSION: Differences in parental acceptance of different ABMTs was noted among the two groups of parents, with greater acceptance of ABMTs observed in the group of parents of children with ASDs. Parents of both groups have significant gaps in their knowledge of ABMTs. Therefore, increased awareness and personalized communication strategies are needed to increase acceptance of the studied techniques and, thus, facilitate access to dental care for uncooperative pediatric patients. Patient-centered behavior management strategies that meet children's needs and parents' preferences can contribute to the achievement of good oral health.

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22. Strawson WH, McKeown B, Quadt L, Wang HT, Larrson DEO, Mulcahy J, Silva M, Kampoureli C, Turnbull A, Garfinkel SN, Smallwood J, Critchley HD. Differences in ongoing thought between autistic and non-autistic adults. Sci Rep. 2024; 14(1): 29236.

Autistic people may be distinguishable from non-autistic individuals in the content and modality of their thoughts. Such differences potentially underlie both psychological vulnerability and strengths, motivating the need to better understand autistic thought patterns. In non-clinical undergraduates, a recent study found that autistic traits were associated with thinking more in words than images. However, it is unclear whether such differences in thought are present in clinically diagnosed autistic individuals. The current study applied the same methods (multidimensional experience sampling during an N-back task) to examine ongoing thought in autistic and non-autistic adults. We found that autistic individuals showed less variability in the modality of their thoughts between easy and difficult task contexts. While both non-autistic and autistic participants tended to report thinking more in words during the difficult task context, the difference between conditions was significantly smaller for the autistic group. In addition, autistic individuals showed a weaker coupling between task performance and off-task social thinking, a finding that may be related to differences in social processing during the off-task state. Overall, our results provide a clinical replication and extension of previous work, highlighting the differential effects of changing external context on internal mental states in autism.

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23. Wang H, Zu P, Yin W, Zhang L, Ruan L, Chen X, Zhu P. Maternal insulinemic and inflammatory dietary patterns and risk of child neurodevelopmental delay. Eur J Nutr. 2024; 64(1): 25.

PURPOSE: Our aim was to assess the risk of higher insulinemic, inflammatory, and hyperglycemia potential in the diet during pregnancy with child neurodevelopmental delay. METHODS: We enrolled 7,438 pregnant women participating in a prospective cohort study. The food frequency questionnaire was used to evaluate the empirical dietary index for hyperinsulinemia (EDIH), empirical dietary inflammatory pattern (EDIP), glycemic index (GI), and glycemic load (GL) during mid-pregnancy. Child neurodevelopmental assessment was conducted at 6-36 months postpartum using the Denver Developmental Screening Test-II (DDST-II) scale, and the Gesell Developmental Diagnosis Scale (GDDS) was administered to assess children who did not meet the criteria for passing the DDST-II screening. RESULTS: We documented 540 incident child neurodevelopmental delay cases over 7,438 pregnant women (median follow-up: 2 years). Pregnant women exhibiting the high levels of hyperinsulinemic or proinflammatory components, or GI encountered an elevated risk of child neurodevelopmental delay; HRs (95% CI) comparing highest to lowest dietary index quintiles were EDIH 1.48 (1.07,2.04; P (trend) = 0.017), EDIP 1.39 (1.05,1.84; P (trend) = 0.019) and GI 1.36 (1.02,1.81; P (trend) = 0.038). In sex-stratified analyses, these results remained significant only in boys (P (trend) = 0.018 for EDIH, P (trend) = 0.028 for EDIP, P (trend) = 0.029 for GI). The performance of combined model of EDIH and EDIP for boys is comparable to that of the combined model of EDIH, EDIP, and GI to assess the risk of neurodevelopmental delay (AUC [area under curve] 0.801 vs. AUC 0.830). Both values are higher than the AUC values achieved by models using either set of indicators individually. CONCLUSION: Our findings suggest that maternal consumption of diets with high insulinemic, inflammatory, or glycemic index properties may be associated with neurodevelopmental delays in children, particularly in boys. Higher insulinemic and inflammatory potentials in maternal diet may forecast neurodevelopmental delay in boys.

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24. Xie Z, Li M, Wang Y. A Multilevel Analysis of Attitudes towards Inclusive Education among Teachers of Students with Developmental Disabilities in China: School Factors Matter. J Autism Dev Disord. 2024.

PURPOSE: Teachers’ attitudes towards inclusive education (ATIE) are crucial for educating students with developmental disabilities. The school environment plays an important role in shaping teachers’ ATIE. This study aimed to examine the effects of three school factors (i.e., perceived school support, perceived principals’ leadership, and in-service training) on teachers’ ATIE and the mediating effect of self-efficacy in the relationships. METHODS: A total of 972 teachers who taught students with developmental disabilities in 49 inclusive elementary schools in Beijing, China, participated in this study. Multilevel analysis was performed to analyze the data. RESULTS: After controlling for demographics, at the school level, administrative support (one dimension of perceived school support) positively predicted teachers’ ATIE. At the individual level, teachers’ ATIE were positively predicted by emotional support (one dimension of perceived school support) and in-service training, but negatively predicted by transactional leadership (one dimension of perceived principals’ leadership). Self-efficacy mediated the positive effects of transformational leadership (one dimension of perceived principals’ leadership), emotional support, and in-service training on ATIE. CONCLUSION: Administrative support, emotional support, transformational leadership, and in-service training are conducive to fostering positive ATIE among teachers of students with developmental disabilities, and the underlying mechanism is explained by the mediating role of self-efficacy.

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25. Xu J, Su W, Wang Y, Luo Y, Ye F, Xu Y, Chen L, Li H. Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing. BMC Pediatr. 2024; 24(1): 766.

INTRODUCTION: Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID. METHODS: We retrospectively analyzed WES data from 280 patients diagnosed with unexplained DD/ID. Demographic information and genetic variants identified through WES were assessed, along with an evaluation of clinical factors that might influence the detection of genetic causes. RESULTS: Pathogenic variants were detected in 73 cases (36.07%), including 25 cases involving pathogenic chromosomal copy number variations. Clinical factors such as age, sex, gestational age, birth weight, anoxia, jaundice, associated symptoms, family history, muscle strength, muscle tone, epilepsy, brain MRI findings, EEG results, and the severity of DD/ID did not significantly impact the WES outcomes. However, a significant correlation was observed between delivery mode and positive WES results, with a higher diagnostic yield among patients delivered via caesarean section. CONCLUSIONS: WES is a valuable approach for identifying genetic causes in patients with unexplained DD/ID, providing benefits for patient management, family genetic counseling, and long-term prognosis assessment. CLINICAL TRIAL NUMBER: Not applicable.

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26. Ye F, Hou X, Chen J, Qin H, Xu X, Liu D, Liu J, Sun Q, Liu H, Hu F, Zhou Y, Xu P, Zhang Q. Behavioral Changes During COVID-19 Omicron Variant Infection on Children with Autism Spectrum Disorder in China. Psychol Res Behav Manag. 2024; 17: 3979-91.

PURPOSE: The objective of this study was to investigate the behavioral changes in the core features and challenging behaviors of children with Autism Spectrum Disorder (ASD) during the COVID-19 Omicron wave (from December 2022 to January 2023) in China. PATIENTS AND METHODS: A total of 515 caregivers of children with ASD completed an online survey. This survey was designed to assess the sociodemographic characteristics of the children and their caregivers, the clinical features of COVID-19, the manifestation of core ASD features and challenging behaviors, and the alterations in daily life following the COVID-19 Omicron variant wave. RESULTS: The children with ASD had an average age of 5.4 years, with 79.6% being male. After the Omicron wave, the proportions of participants with worsening core ASD features and challenging behaviors were 22.9% and 37.1%, respectively. Sleep disorders (20.0%), eating problems (18.6%), and inattentive symptoms (17.5%) were the most frequently reported worsening behaviors. The factors associated with the worsening of core ASD features included infection with the Omicron variant of COVID-19, reduced outdoor activity, and a lower score of caregiver health-related quality of life (HRQoL). The worsening of challenging behaviors was associated with infection with the Omicron variant of COVID-19, a lower frequency of rehabilitation training, and a lower score of HRQoL. CONCLUSION: The outbreak of the COVID-19 Omicron variant had an impact on the behaviors of autistic children. The behavior changes in core ASD features and challenging behaviors differed and were associated with COVID-19 infection and other factors.

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