1. Al-Garni AM, Hosny SA, Almasabi F, Shati AA, Alzamil NM, ShamsEldeen AM, El-Shafei AA, Al-Hashem F, Zafrah H, Maarouf A, Al-Ani B, Bin-Jaliah I, Kamar SS. Identifying iNOS and glycogen as biomarkers for degenerated cerebellar purkinje cells in autism spectrum disorder: Protective effects of erythropoietin and zinc sulfate. PLoS One. 2025; 20(2): e0317695.

Autism spectrum disorder (ASD) is a collective neurodevelopmental disorder affecting young children and accounting for 1% of the world’s population. The cerebellum is the major part of the human brain affected by ASD and is associated with a substantial reduction in the number of Purkinje cells. An association between ASD and the expression of the nitrosative stress biomarker inducible nitric oxide synthase (iNOS), as well as glycogen deposition in damaged Purkinje cells, has not been previously reported in the medical literature. To explore this correlation, young rats were injected with propionic acid (PPA) (500 mg/kg) for 5 days (model group), while the protection groups were treated with either erythropoietin (EPO, 5,000 U/kg) or 2 mg/kg zinc sulfate immediately after the PPA injections. ASD-like features were developed in the model group, as evidenced by cerebellum damage (degeneration of Purkinje cells) and cerebellar dysfunction (behavioral impairment). This study documented the exclusive expression of iNOS in the degenerated Purkinje cells, along with glycogen deposition in these cells. Additionally, PPA significantly (p < 0.001) modulated cerebellar tissue levels of mammalian target of rapamycin (mTOR), gamma-aminobutyric acid (GABA), GABAA receptor, serotonin, the marker of neuronal loss (calbindin D28K), and social interaction deficit. Some of these parameters were differentially protected by EPO and zinc sulfate, with the former providing greater protection than zinc sulfate. Furthermore, a significant correlation between the iNOS score and these parameters associated with ASD was observed. These findings demonstrate the colocalization of iNOS and glycogen in the damaged Purkinje cells induced by ASD, along with the modulation of ASD parameters, which were protected by EPO and zinc sulfate treatments. Thus, these potential novel biomarkers may offer possible therapeutic targets for the treatment of ASD.

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2. Baer M, Cola M, Knox A, Lyons M, Schillinger S, Lee A, Worth BF, Parish-Morris J, Grossman RB. Social first impressions and perceived gender in autistic and non-autistic youth. Sci Rep. 2025; 15(1): 5240.

First impressions of autistic individuals are more negative than those of their non-autistic peers. There is also a higher prevalence of gender diversity among autistic than non-autistic individuals. No studies to date have investigated the impact of perceived gender on social first impressions of autistic and non-autistic individuals. In this study, adult participants (i.e., undergraduate students) watched sixty 7-10 s video clips of 15 non-autistic females, 15 non-autistic males, 15 autistic females, and 15 autistic males engaging in a « get-to-know-you » conversation (video of participant only). Adult participants provided social first impression ratings and perceptions of gender (femininity, masculinity, and other/neither) for each participant using slider bars. Results showed that autistic youth received lower social ratings than non-autistic youth, and that girls overall were rated more favorably than boys. However, for autistic girls there was a significant correlation between perceived gender and social first impressions that did not exist in the other three groups. Specifically, autistic girls who were perceived as less feminine and more other/neither were also rated lower on social first impressions. These novel findings highlight a double penalty for autistic girls who diverge from societal expectations about both gender and typical social behavior.

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3. Cooley Coleman JA, Moffitt BA, Bridges WC, Jones K, May M, Skinner C, Friez MJ, Skinner SA, Schwartz CE, Boccuto L. A novel approach to metabolic profiling in case models of MECP2-related disorders. Metab Brain Dis. 2025; 40(2): 124.

Genetic abnormalities of the MECP2 gene cause several conditions grouped under the umbrella term of MECP2-related disorders and characterized by a variety of phenotypes. We applied a functional approach to identify metabolic profiles in two patients with Rett syndrome (RTT) and one patient with MECP2 duplication syndrome (MRXSL). Such an approach is based on the Phenotype Mammalian Microarray (PM-M) technology, which is designed to assess the cellular production of energy in the presence of different compounds generating distinct metabolic environments. The findings in the three case models were compared versus 50 controls. Although the small number of samples prevented most results from reaching significant p-values when adjusted with the Benjamini-Hochberg correction, some interesting trends emerged. Some compounds indicated metabolic trends shared by the two conditions, like increased energy production in the presence of energy sources such as pectin, adenosine, and pyruvic acid, or decreased metabolic response to certain hormones. Other compounds showed opposite trends for the two disorders, like interleukin-1 beta (IL-1 beta), which caused decreased energy production in the RTT group but increased energy production in the patient with MRXSL. The response to IL-1 beta also offers valuable insights into the pathogenic mechanism and potential therapeutic approaches. The metabolic profiling of MECP2-related disorders bears a remarkable translational potential since it may be helpful to investigate the molecular abnormalities underlying the phenotypical variety in this spectrum of conditions, develop biomarkers for the identification of ideal candidates for treatments like the recently approved trofenatide, and identify potential targets for the development of novel therapeutic approaches.

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4. Del Sal A, Haumont E, Pigeolet M, Gaume M, Riouallon G, Bahi Buisson N, Linglart A, Desguerre I, Pannier S, Miladi L. Minimally Invasive Bipolar Technique for Scoliosis in Rett Syndrome-Results and Complications in a Series of 22 Cases. J Clin Med. 2025; 14(3).

Background: This is a retrospective study. The aim of this study is to report the results of bipolar minimally invasive fusionless surgery for scoliosis in Rett syndrome with a minimum follow-up of 2 years. Conservative treatment is often not effective in Rett syndrome scoliosis. Posterior spinal fusion (PSF) has a high rate of complications; early surgery using traditional growing rods (TGRs) controls the deformity while preserving spinal and thoracic growth before arthrodesis. The need for surgical rod lengthening still has a high rate of complications and costs. Methods: We recorded the clinical and radiological outcomes of 22 consecutive patients with Rett scoliosis who underwent bipolar fusionless surgery with a mean follow-up of 56 months (24-99). We performed a bilateral construct with rods (with or without a self-sliding device) anchored proximally with four hook claws distally to the pelvis by ilio-sacral (IS) screws through a minimally invasive approach. Results: The Cobb angle was reduced from 74.4° initially to 28.9° postoperatively and to 25.7° at the last follow-up, which corresponds to a 65% correction of the initial deformity. The gain was maintained at the last follow-up. None of the patients required spinal fusion at skeletal maturity (55% of our patients reached skeletal maturity). There was a gain in body weight (27.97 kg at preoperative time and 33.04 kg at postoperative time). The surgical complication rate was 32%. Conclusions: We recorded the stable correction of deformities and weight gain over time using the bipolar minimally invasive fusionless technique with a reduced rate of complication compared to arthrodesis. The arthrodesis was not necessary at skeletal maturity, thanks to the delayed natural ankylosis of a fixed spine.

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5. Dudley A, Baker T, Hardesty C, Moody EJ. Opportunities for meaningful inclusion: experience of individuals with intellectual and developmental disabilities with research. Front Pediatr. 2025; 13: 1478000.

BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) face numerous health disparities, particularly in rural communities. However, they are rarely included in the research process to address these challenges as co-researchers. Little is known about the experience of how individuals with disabilities participate as co-researchers, or the barriers they face. OBJECTIVE: The current study explores the experiences of individuals with IDD as co-researchers through discussions with individuals with IDD themselves, those who support them, and disability researchers. METHOD: Data were collected through focus groups with individuals with IDD, individuals who support those with IDD, and disability researchers. Each group was asked about their journey through the research process, from beginning to end. Data were analyzed thematically by two independent coders. RESULTS: While all groups viewed the inclusion of individuals with disabilities as co-researchers as valuable, many barriers still prevented this population from fully participating in the research process. Individuals with IDD viewed research positively, especially when the topics were personally relevant. However, many thought research was intimidating and wanted additional support. Support providers expressed that the people they support have lots to contribute to research and felt empowered when participating. Disability researchers discussed many barriers to include individuals with IDD as co-researchers, including limited time, resources, and inflexibility of research processes. Researchers felt they could use more experience working with individuals with disabilities as co-researchers to integrate these individuals into all aspects of the process. DISCUSSION: There is broad interest in including those with IDD as co-research, but many barriers remain. Full inclusion can be supported by developing a welcoming and accessible environment. Researchers may need institutional support and training to pursue inclusive IDD research. Asking individuals with IDD for their expertise, develop topics of research that those with IDD can relate to, and involving support providers may be helpful. Developing innovative strategies to support inclusion is needed from all groups.

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6. Fradkin Y, Anguera JA, Simon AJ, De Taboada L, Steingold E. Transcranial photobiomodulation for reducing symptoms of autism spectrum disorder and modulating brain electrophysiology in children aged 2-7: an open label study. Front Child Adolesc Psychiatry. 2025; 4: 1477839.

BACKGROUND: Small pilot studies have indicated that transcranial photobiomodulation (tPBM) may help alleviate symptoms of neurological conditions like depression, traumatic brain injury and Autism Spectrum Disorder (ASD). OBJECTIVE: To examine the effect of tPBM on the behavioral symptoms of ASD and brain electrophysiology in children aged 2-7. METHODS: We conducted an open label, one-arm study with 23 participants, aged 2-7, previously diagnosed with ASD. We delivered non-invasively to all participants pulses of near-infrared light (wavelength 850 nm, pulse 40 Hz) to cortical nodes of Default Mode Network, Broca and Wernicke areas, and occipital lobe of the brain, twice weekly for 10 weeks. The tPBM was delivered using an investigational medical device designed for this purpose. Changes in ASD symptoms were measured using pre- and post-intervention scores on the Childhood Autism Rating Scale (CARS-2, 2nd Edition). We collected electroencephalogram (EEG) data after each treatment session from all children who tolerated wearing the EEG cap to monitor changes in brain activity. RESULTS: The intervention resulted in a significant 7-point reduction in average CARS-2 scores (t = 10.23, p < .0001), along with decreased delta power and increased gamma and beta power in EEG readings. The increase in gamma power was statistically significant [t(14) = 2.30, p = 0.047]. Changes in EEG power were significantly correlated with the number of sessions (delta: r(192) = -0.18, p = .013; gamma: r(192) = .19, p = .007; beta: r(192) = .15, p = .04). Improvements in CARS-2 scores were negatively correlated with changes in delta and beta power (delta: r(15) = -.59, p = .020; beta: r(15) = -.54, p = .037). No moderate or severe side effects were reported. CONCLUSION: This study supports the potential of tPBM as a safe and effective treatment for ASD, and it suggests that EEG measurements may serve as a useful biomarker for future research. TRIAL REGISTRATION: https://clinicaltrials.gov/ct2/show/NCT04660552.

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7. Glasby J, Waring J, Miller R, Glasby AM, Ince R. Out of Sight, Out of Mind-Explaining and Challenging the Re-Institutionalisation of People With Learning Disabilities and/or Autistic People. Sociol Health Illn. 2025; 47(2): e70009.

During the twentieth century, many countries underwent processes of ‘de-institutionalisation’-closing ‘asylums’ for people with mental health problems, learning disabilities and dementia. Despite this, the UK has witnessed a subsequent process of ‘re-institutionalisation’ with the creation of new public/private sector facilities providing ‘secure’ care to large numbers of people, who can be residents for many years with no sense of when they may leave. In 2023, 2035 people with learning disabilities and/or autistic people were receiving inpatient hospital care in England, with 54% in hospital for over two years. Drawing on the lived experience of people in hospital/families, and the practice knowledge of front-line staff, this paper critically analyses why this process of re-institutionalisation may be taking place. Our argument is that institutional forms of care have gradually been re-introduced-despite the influence of neoliberal health policies that have previously aimed at deinstitutionalisation and self-care-because some people are viewed as ‘too difficult’ to govern through the prevailing dispositive of self-care, and therefore become the subjects of more disciplinary forms of power. Once in hospital, the primary routes to ‘escape’ require performative acts of ‘good conduct’ that give confidence to professionals of a person’s capacity for self-government.

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8. Jain D, Multani KS, Dodiya A, Benani U, Iyer A. Adaptive behavior and its differences between children with autism spectrum disorder and social communication disorder. Autism. 2025: 13623613251317787.

This study compared adaptive behavior skills between children with autism spectrum disorder and social communication disorder using the Vineland Adaptive Behavior Scale-III. The researchers analyzed data from 232 children with autism spectrum disorder and 90 with social communication disorder. Key findings showed that children with social communication disorder demonstrated significantly better adaptive functioning across all areas compared to those with autism spectrum disorder. The largest differences were seen in communication and social skills. However, both groups still showed impairments compared to typical development, especially in expressive language. The study also found that younger children with lower overall adaptive behavior scores were more likely to be diagnosed with autism spectrum disorder. In addition, there was a higher proportion of males in the social communication disorder group than the autism spectrum disorder group. These results highlight important differences between autism spectrum disorder and social communication disorder, supporting their classification as distinct disorders. The findings emphasize the need for comprehensive adaptive behavior assessment during diagnosis and tailored interventions for each condition. Early identification and targeted support may be particularly crucial for children with autism spectrum disorder.

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9. Kalb LG, Perrin J, Sollins E, Horton J, Cross EA, Vasa RA. A Pilot Randomized Trial of a Brief Mental Health Crisis Prevention Program for Autistic Youth. J Autism Dev Disord. 2025.

Autistic youth are at significant risk of experiencing a mental health crisis. Unfortunately, most clinical approaches to crisis management, such as referral to the emergency department, can be traumatic. At present, no crisis prevention programs have been developed for or rigorously tested among autistic youth. The goals of this study were to develop a parent-mediated mental health crisis prevention program, delivered virtually by a licensed clinician over three 1-h sessions, and test its efficacy via a randomized controlled trial. The trial included 49 autistic youth, ages 3 to 12 years, and their parents, who were recruited from an outpatient autism center. All children had behavioral concerns but were not at acute risk of crisis. Parents in the crisis prevention program (n = 25) reported that the strategies were safe and feasible; they were also very satisfied with the program. Compared to active controls (n = 24), who received the Autism Speaks Challenging Behavior Toolkit, the crisis prevention program was found to have greater improvements in caregiver-reported knowledge, confidence, and preparedness regarding management of crisis behaviors (p < .05). However, effects on caregiver-reported child irritability and behavioral acuity did not differ (p > .05). The brief crisis prevention program is safe, feasible, and acceptable to parents. While it improves mental health crisis preparedness, further research on its efficacy in reducing crisis risk is needed.

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10. Kwong TC, Yuan HL, Mung SWY, Chu HK, Lai YYC, Chan CCH, Choy YS. Intervention technology of aural perception controllable headset for children with autism spectrum disorder. Sci Rep. 2025; 15(1): 5356.

This study explored aural perception in children with autism using an aural perception test and electrophysiological responses to sound stimuli. The results demonstrated unique responses to sound stimuli at different sound intensity levels, emphasising the need for customised noise-control strategies targeting specific troublesome frequencies. To address this issue, headset intervention technology with a hybrid active noise control system integrated with an aural perception controlling function was developed for children with autism with distinct auditory perception based on their psychoacoustic characteristics. The results showed that the noise-control strategy was effective in mitigating unpleasant feelings and reducing the loudness and sharpness of daily stimuli. The proposed aural perception controllable headset can minimise noise, leading to a noticeable reduction in the magnitude of the auditory evoked potential at the midline central brain region for children with autism exposed to certain sounds, such as heavy vehicles and thunder, providing a more pleasant aural perception. A diminished auditory evoked potential response was associated with lower annoyance and pleasant aural perception. This study suggests that the proposed aural-perception-based noise-control method has the potential to alleviate behaviours related to auditory hyperreactivity in children with autism.

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11. Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, Nitschké P, Rodriguez-Fontenla C, Bodineau A, Narcy L, Schlumberger E, Cantagrel V, Malan V. Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech. Mol Autism. 2025; 16(1): 10.

BACKGROUND: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~ 7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. METHODS: Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. RESULTS: We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. LIMITATIONS: The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. CONCLUSION: These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT06660108.

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12. Patel P, Sun W, Mataruga A, Fung K, Balogh R. The Incidence and Prevalence of Dementia Among Ontario Adults With and Without Intellectual and Developmental Disabilities. Int J Geriatr Psychiatry. 2025; 40(2): e70050.

OBJECTIVES: There are more than 66,000 Ontario adults living with intellectual and developmental disabilities (IDD). While the risk of dementia is well established among those with Down Syndrome (DS), there is limited research in persons with IDD excluding DS (Non-DS IDD). This study aimed to compare the incidence and prevalence of dementia in Ontario adults with and without IDD over time and by demographic information. METHODS: Administrative data were used to calculate and compare the annual age- and sex-adjusted cumulative incidence and period prevalence of dementia from fiscal years 2011/12 to 2020/21 in three cohorts: (1) Non-DS IDD, (2) DS, and (3) No IDD. RESULTS: Compared to persons without IDD, cumulative incidence of dementia was on average 4.27 and 5.33 times higher in persons with Non-DS IDD and DS respectively and period prevalence of dementia was on average 4.87 and 5.93 times higher in persons with Non-DS IDD and DS respectively. CONCLUSIONS: Given the increased rates of dementia within the IDD population, it is imperative that early dementia screening take place, appropriate health and social services are implemented and more actions are taken to delay the onset of dementia, while considering the needs of this population.

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13. Patil M, Iftikhar N, Ganti L. Neuroimaging Insights into Autism Spectrum Disorder: Structural and Functional Brain. Health Psychol Res. 2024; 12: 123439.

Autism Spectrum Disorder (ASD) is a condition that affects social communication, behavior, and interests. This review analyzes recent brain imaging studies to understand the biological basis of ASD. Studies using structural magnetic resonance imaging (sMRI) show that people with ASD often have less gray matter in key brain areas like the amygdala and superior temporal sulcus. There are also concerns with white matter connections in the brain. Functional magnetic resonance imaging (fMRI)studies show reduced connectivity within critical brain networks and irregular activation patterns when processing social information. Intervention studies suggest that targeted training can improve brain function related to social skills. Postmortem research reveals cellular and synaptic changes, such as fewer Purkinje cells and altered neuron organization. These findings highlight the importance of studying the social brain network in ASD and suggest the need for more long-term, comprehensive studies. This review is intended to contribute to the development of advanced diagnostic tools and therapies that will ultimately enhance the quality of life for individuals with ASD.

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14. Puljko B, Štracak M, Kalanj-Bognar S, Todorić Laidlaw I, Mlinac-Jerkovic K. Gangliosides and Cholesterol: Dual Regulators of Neuronal Membrane Framework in Autism Spectrum Disorder. Int J Mol Sci. 2025; 26(3).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation. Diagnosing ASD is complex, and the criteria for diagnosis, as well as the term ASD, have changed during the last decades. Diagnosis is made based on observation and accomplishment of specific diagnostic criteria, while a particular biomarker of ASD does not yet exist. However, studies universally report a disequilibrium in membrane lipid content, pointing to a unique neurolipid signature of ASD. This review sheds light on the possible role of cholesterol and gangliosides, complex membrane glycosphingolipids, in the development of ASD. In addition to maintaining membrane integrity, neuronal signaling, and synaptic plasticity, these lipids play a role in neurotransmitter release and calcium signaling. Evidence linking ASD to lipidome changes includes low cholesterol levels, unusual ganglioside levels, and unique metabolic profiles. ASD symptoms may be mitigated with therapeutic interventions targeting the lipid composition of membranes. However, restoring membrane equilibrium in the central nervous system remains a challenge. This review underscores the need for comprehensive research into lipid metabolism to uncover practical insights into ASD etiology and treatment as lipidomics emerges as a major area in ASD research.

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15. Richard AE, Duku E, Bennett TA, Szatmari P, Vaillancourt T, Zwaigenbaum L, Georgiades S, Zaidman-Zait A, Kerns CM, Bedford R, Smith IM. Trajectories of attention problems in autistic children and relations to social skills outcomes. Dev Psychopathol. 2025: 1-14.

Co-occurring autism and attention-deficit/hyperactivity disorder (ADHD) have been associated with poorer social skills. Most studies examining the association of ADHD symptoms and social skills in autism employ categorical and cross-sectional designs, which provide a narrow view of the development of ADHD symptoms. Using group-based trajectory modeling, we identified five trajectories of caregiver-reported attention problems in an inception cohort of autistic children (N = 393) followed from age 2-5 years (T1) to age 10.5-11 years (T8): Low-Stable (LS; 15.5% of participants), Low-Decreasing (LD; 25.2%), Low-Increasing (LI; 19.2%), Moderate-Decreasing (MD; 32.9%), and High-Stable (HS; 7.2%). Child FSIQ and caregiver age at baseline were lower and caregiver depression at baseline was higher for participants in the MD group than the LS group. Psychotropic medication use was associated with higher attention problems. The MD and HS groups had similar mean Vineland Adaptive Behavior Scales, Second Edition (VABS-II) Socialization standard scores at T8, which were lower than other groups. The LI group had lower Socialization scores than the LS group. Results support that a decline in caregiver-reported attention problems is common but not universal in autistic children and that even moderate/subclinical attention problems may relate to social skills outcomes in autism.

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16. Rydzewska E, Nijhof D, Hughes L, Melville C, Fleming M, Mackay D, Sosenko F, Ward L, Dunn K, Truesdale M, Cairns D, Pell JP, Wyper GMA, Jani BD, Barlow F, Henderson A, Callander R, Cooper SA. Rates, causes and predictors of all-cause and avoidable mortality in 514 878 adults with and without intellectual disabilities in Scotland: a record linkage national cohort study. BMJ Open. 2025; 15(2): e089962.

BACKGROUND: Studies on avoidable mortality in adults with intellectual disabilities are limited, as are studies on causes of death. OBJECTIVES: We aimed to quantify mortality rates, and causes, and identify factors (i.e., age, sex, Scottish Index of Multiple Deprivation (SIMD)) related to avoidable mortality in adults with intellectual disabilities. DESIGN: A record linkage national cohort study. SETTING: A cohort of adults with intellectual disabilities with or without co-occurring autism, aged 25+ years and a randomly selected comparison group aged 25+ years without intellectual disabilities or autism identified from Scotland’s Census, 2011. Census records were linked to the National Records of Scotland Statutory Register of Deaths database to ascertain all deaths from 2011 to 2019. PARTICIPANTS: We analysed data on 14 477 adults with intellectual disabilities aged 25+ years and a randomly selected comparison group of 506 207 adults aged 25+ without intellectual disabilities identified from Scotland’s Census 2011. PRIMARY AND SECONDARY OUTCOME MEASURES: We ran χ(2) tests and t-tests to investigate individual characteristics and differences in age at death for adults with intellectual disabilities compared with peers in the general population. Cox proportional hazard models were fitted to calculate risk of mortality (all-cause, avoidable, treatable, preventable) unadjusted and adjusted for age, sex and SIMD. We then calculated mortality rates, using crude and indirect standardisation methods. RESULTS: During the 8.5-year follow-up, 23.7% (crude death rate of 3033.3 per 100 000) of adults with intellectual disabilities died compared with 13.8% of controls. The median age at death among adults aged 25+ with intellectual disabilities was 65.0 years compared with 80.0 years for adults without intellectual disabilities. For all-cause mortality, the age-standardised mortality ratio (SMR) in the population with intellectual disabilities was 3.1 (95% CI 3.0 to 3.2). The SMRs were higher for the youngest age groups, women and in the most affluent areas. This was also the case for SMRs for avoidable, treatable and preventable deaths. For the population of adults with intellectual disabilities, 31.7% of recorded deaths were considered avoidable, 21.1% were treatable and 19.9% were preventable. In the controls, 18.2% of deaths were considered avoidable, 8.8% treatable and 14.7% preventable. Down syndrome and dementia were the two most commonly recorded underlying causes of death for people with intellectual disabilities while malignant neoplasm of bronchus and lung and acute myocardial infarction were most commonly recorded in the general population. CONCLUSIONS: Risk of all-cause, avoidable, treatable and preventable mortality was higher for adults with intellectual disabilities than their peers. The highest SMRs were observed for youngest adults, women and individuals living in the most affluent areas.

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17. Saban-Bezalel R, Stolar O, Ben-Itzchak E. Brief Report: Eating Habits and Social Setting: Comparing Children with Autism and Typically Developing Children. J Autism Dev Disord. 2025.

PURPOSE: Eating problems are commonly reported as co-occurring conditions in individuals with autism spectrum disorder (ASD) and are also prevalent among typically developing (TD) children. While it has been shown that eating problems in TD children are influenced by social settings, this factor has not been extensively studied in children with ASD. METHOD: This study compared the perspectives of parents and preschool teachers on the eating habits of both ASD and TD children. The study included children aged 29-81 months, 34 TD children, and 31 children diagnosed with ASD who attended special education preschool classes specifically designed for them. RESULTS: The findings revealed that parental and preschool teacher reports were generally consistent, but parents tended to report more severe eating problems for both groups of children. Thus, pointing to the impact of social settings on eating in ASD. Additionally, the reports indicated that eating problems were more severe in children with ASD compared to TD children. CONCLUSION: These findings underscore the significant influence of social settings on children’s eating behavior. It is essential for education and treatment teams to recognize that eating habits may vary between home and preschool environments. They should be attentive to parents’ concerns regarding their children’s eating habits at home and provide appropriate support and guidance.

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18. Savostyanov AN, Kuleshov DA, Klemeshova DI, Vlasov MS, Saprygin AE. Association of autistic personality traits with the EEG scores in non-clinical subjects during the facial video viewing. Vavilovskii Zhurnal Genet Selektsii. 2024; 28(8): 1018-24.

A software information module of the experimental computer platform « EEG_Self-Construct » was developed and tested in the framework of this study. This module can be applied for identification of neurophysiological markers of self-referential processes based on the joint use of EEG and facial video recording to induce the brain’s functional states associated with participants’ personality traits. This module was tested on a group of non-clinical participants with varying degrees of severity of autistic personality traits (APT) according to the Broad Autism Phenotype Questionnaire. The degree of individual severity of APT is a quantitative characteristic of difficulties that a person has when communicating with other people. Each person has some individual degree of severity of such traits. Patients with autism are found to have high rates of autistic traits. However, some individuals with high rates of autistic traits are not accompanied by clinical symptoms. Our module allows inducing the brain’s functional states, in which the EEG indicators of people with different levels of APT significantly differ. In addition, the module includes a set of software tools for recording and analyzing brain activity indices. We have found that relationships between brain activity and the individual level of severity of APT in non-clinical subjects can be identified in resting-state conditions following recognition of self-referential information, while recognition of socially neutral information does not induce processes associated with APT. It has been shown that people with high scores of APT have increased spectral density in the delta and theta ranges of rhythms in the frontal cortical areas of both hemispheres compared to people with lower scores of APT. This could hypothetically be interpreted as an index of reduced brain activity associated with recognition of self-referential information in people with higher scores of autistic traits. The software module we are developing can be integrated with modules that allow identifying molecular genetic markers of personality traits, including traits that determine the predisposition to mental pathologies.

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19. Speakman A, Kaul A, Chin C, Xanthakos S, Mouzaki M. Malnutrition-related cardiomyopathy in a pediatric patient with autism spectrum disorder. JPGN Rep. 2025; 6(1): 39-42.

We present a case of a 5-year-old male patient with history of autism spectrum disorder and chronic malnutrition secondary to an extremely restrictive diet who presented with life-threatening anemia and heart failure secondary to malnutrition-related cardiomyopathy. This case highlights the importance of recognizing nutritional deficiencies in high-risk individuals and screening for nutritional deficiencies in at-risk children. Furthermore, it underscores the need for early recognition and intervention as malnutrition-related cardiomyopathy can have significant morbidity.

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20. Srinivas S, Halaweish I, Griffin KL, Rodriguez C, Pruitt LCC, Stephenson KG, Yossef L, Wood RJ, Williams KC. Gastrostomy tube placement for children with autism spectrum disorders and functional constipation. JPGN Rep. 2025; 6(1): 5-10.

OBJECTIVES: Children with functional constipation (FC) and autism spectrum disorder (ASD) often face sensory and behavioral conditions that prevent giving oral medical therapy to improve constipation and incontinence. We aimed to assess whether children with ASD and FC who had difficulty in taking oral medications could benefit from gastrostomy tube (GT) placement. METHODS: A single-institution retrospective review was performed in children diagnosed with ASD and FC from 2020 to 2023. Children were considered candidates for GT if they suffered from constipation that adversely affected daily function and refused adequate oral medical therapy. Data were collected on ASD severity and FC symptoms before GT and after GT placement. RESULTS: There were nine patients who underwent GT placement. Median age was 7.4 years (interquartile range [IQR]: 4.8-9.7). Of the five with available ASD evaluations, four had extremely low intelligence quotient and extremely low adaptive skills; only one child of the nine was verbal. Before GT placement, most patients had Bristol 1 or 2 consistency stool (66.7%); following placement, most had Bristol 5 or 6 consistency stool (66.7%). Seven children strained with bowel movements before GT; only one child strained after GT. There were no tube dislodgements or site infections. Gastrointestinal quality of life scores improved for both constipation (+38.5, IQR: 27.5-54.3) and medication administration (+31.5, IQR: 0.0-75.0). CONCLUSIONS: GT placement may be a viable option in children with FC and ASD with minimal complications, improvement in constipation, and improvement in quality of life. Further prospective study will ensure generalizability of these results.

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21. Tio PAE, Okkerse JME, Dulfer K, Mathijssen IMJ. « Risk of Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Executive Function Impairment in Metopic Craniosynostosis ». Plast Reconstr Surg. 2025.

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22. Tomaszek N, Urbaniak AD, Bałdyga D, Chwesiuk K, Modzelewski S, Waszkiewicz N. Unraveling the Connections: Eating Issues, Microbiome, and Gastrointestinal Symptoms in Autism Spectrum Disorder. Nutrients. 2025; 17(3).

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication, restricted interests, and repetitive behaviors. It is also associated with a high prevalence of eating disorders, gastrointestinal (GI) symptoms, and alterations in gut microbiota composition. One of the most pressing concerns is food selectivity. Various eating disorders, such as food neophobia, avoidant/restrictive food intake disorder (ARFID), specific dietary patterns, and poor-quality diets, are commonly observed in this population, often leading to nutrient deficiencies. Additionally, gastrointestinal problems in children with ASD are linked to imbalances in gut microbiota and immune system dysregulation. The aim of this narrative review is to identify previous associations between the gut-brain axis and gastrointestinal problems in ASD. We discuss the impact of the « microbiome-gut-brain axis », a bidirectional connection between gut microbiota and brain function, on the development and symptoms of ASD. In gastrointestinal problems associated with ASD, a ‘vicious cycle’ may play a significant role: ASD symptoms contribute to the prevalence of ARFID, which in turn leads to microbiota degradation, ultimately worsening ASD symptoms. Current data suggest a link between gastrointestinal problems in ASD and the microbiota, but the amount of evidence is limited. Further research is needed, targeting the correlation of a patient’s microbiota status, dietary habits, and disease course.

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23. Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T. The Role of Visual Electrophysiology in Systemic Hereditary Syndromes. Int J Mol Sci. 2025; 26(3).

Visual electrophysiology is a valuable tool for evaluating the visual system in various systemic syndromes. This review highlights its clinical application in a selection of syndromes associated with hearing loss, mitochondrial dysfunction, obesity, and other multisystem disorders. Techniques such as full-field electroretinography (ffERG), multifocal electroretinography (mfERG), pattern electroretinography (PERG), visual evoked potentials (VEP), and electrooculography (EOG) offer insights into retinal and optic nerve function, often detecting abnormalities before clinical symptoms manifest. In hearing loss syndromes like Refsum disease, Usher syndrome (USH), and Wolfram syndrome (WS), electrophysiology facilitates the detection of early retinal changes that precede the onset of visual symptoms. For mitochondrial disorders such as maternally-inherited diabetes and deafness (MIDD), Kearns-Sayre syndrome (KSS), and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome, these tests can be useful in characterizing retinal degeneration and optic neuropathy. In obesity syndromes, including Bardet-Biedl syndrome (BBS), Alström syndrome, and Cohen syndrome, progressive retinal degeneration is a hallmark feature. Electrophysiological techniques aid in pinpointing retinal dysfunction and tracking disease progression. Other syndromes, such as Alagille syndrome (AGS), abetalipoproteinemia (ABL), Cockayne syndrome (CS), Joubert syndrome (JS), mucopolysaccharidosis (MPS), Neuronal ceroid lipofuscinoses (NCLs), and Senior-Løken syndrome (SLS), exhibit significant ocular involvement that can be evaluated using these methods. This review underscores the role of visual electrophysiology in diagnosing and monitoring visual system abnormalities across a range of syndromes, potentially offering valuable insights for early diagnosis, monitoring of progression, and management.

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24. Yuan Y, Tao M, Zhou A, Guan X, Zhang J. Neural mechanisms of self-processing in autism: An ALE-based meta-analysis. Acta Psychol (Amst). 2025; 254: 104787.

Self-processing in autism affects social interactions. By choosing 8 fMRI studies of autism spectrum disorder (ASD) self-processing, this study used ALE meta-analysis to investigate the brain underpinnings of self-processing in ASD. The findings revealed the following: (1) The capacity to make self-other distinctions and mirroring in social interactions is impacted by inadequate activation of brain areas of the mirror neuron system in ASD, which in turn impairs social interactions. (2) ASD activated more brain regions in self-processing than typically developing (TD) individuals. TD individuals exhibit activation in only one cluster during self-processing, while ASD individuals show activation in five distinct clusters. As shown by the fact that TD primarily activated the right frontal lobe when it came to self-processing, whereas ASD activated the limbic lobe, temporal lobe, hippocampus, amygdala, pontine gyrus, and a portion of the left frontal lobe. This study reveals the cognitive neural basis of autism’s greater focus on the self. By clarifying these neurobiological disparities, we acquire a more profound comprehension of the processes that cause social disabilities in ASD. This insight could possibly guide the creation of focused treatments designed to enhance social performance and enhance the quality of life for those with ASD.

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25. Zhang Y, Zhang X, Huang L. Optimal dose of oxytocin to improve social impairments and repetitive behaviors in autism spectrum disorders: meta-analysis and dose-response meta-analysis of randomized controlled trials. Front Psychiatry. 2024; 15: 1477076.

INTRODUCTION: Social impairments and repetitive behaviors are at the core symptoms of autism spectrum disorder (ASD). Intranasal administration of the neuropeptide oxytocin (OXT) is a promising treatment. However, there have been inconsistencies in the effects of OXT on social impairments and repetitive behaviors. METHODS: A comprehensive search in PubMed, the Cochrane Library, Embase, and Web of Science was conducted to gather randomized controlled trials (RCTs) on the efficacy of OXT in patients diagnosed with ASD up to 11/06/2024. The core outcomes were social impairments measured by total Social Responsiveness Scale (SRS) scores and repetitive behaviors measured by the Repetitive Behavior Scale (RBS). RESULTS: This meta-analysis ultimately included 12 RCTs with 498 ASD patients. In an initial analysis, intranasal OXT showed no significant effect on social impairments. For a high dose of 48 IU per day, a beneficial effect on social impairments was found. According to the dose-response meta-analysis, the results indicated that higher doses of OXT might be more effective for social impairments. Depending on repetitive behaviors, the overall analysis showed no significant effect, while the dose over 48 IU per day revealed significant results and the dose-response meta-analysis suggested that higher doses could be more effective for repetitive behaviors. DISCUSSION: Although these findings show no consistent beneficial effects, the results of the dose-response meta-analysis suggest that high doses of intranasal OXT per day may be more effective in ASD. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero, identifier CRD42024567213.

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26. Zhou Z, Zhao X, Yang Q, Zhou T, Feng Y, Chen Y, Chen Z, Deng C. A randomized controlled trial of the efficacy of music therapy on the social skills of children with autism spectrum disorder. Res Dev Disabil. 2025; 158: 104942.

BACKGROUND: Children with autism spectrum disorder (ASD) experience deficits in social skills. Music therapy (MT) has been used as a therapeutic aid for clinical disorders. This study aims to explore the effect of MT on the social skills of children with ASD and to provide evidence for clinical intervention in the social skills of children with ASD. METHODS: Children with ASD who were admitted to the Department of Children’s Health Care of Zhongshan Torch Development Zone People’s Hospital from April 2023 to March 2024 were continuously recruited and assigned to the experimental group and the control group by random number table. The control group received standard care only, while the experimental group added MT to standard care. The MT program is led by an occupational therapist and combines social skills training with musical activities. The training was conducted in small groups of 3-5 children for 30 minutes, three times a week for 12 weeks. The Social Responsiveness Scale (SRS-2), the Autism Treatment Evaluation Checklist (ATEC), and the Gesell Development Schedules (GDS) were performed before and after the intervention. RESULTS: A total of 29 children with ASD were included and randomly assigned to the MT group (n = 15) and the control group (n = 14). All participants completed the whole treatment protocol. There was no significant difference in the scores of SRS-2, ATEC, and GDS between the two groups before intervention. After 12 weeks of intervention, the scores of SRS-2 of the MT group were decreased in the social communication subscale (P < 0.05 compared to baseline and the control group) and total scores (P < 0.05 compared to baseline and the control group). The score of the ATEC scale of the MT group decreased in the speech/language/communication subscale (P < 0.05 compared to baseline and the control group), the sociability subscale (P < 0.05 compared to baseline and the control group), and the total score (P < 0.05 compared to baseline). The development quotient score of the social domain of GDS in the MT group was significantly higher than that before intervention (P < 0.05) and that in the control group (P < 0.05). CONCLUSION: This study suggests that MT could effectively improve the social skills of children with ASD, and has a positive effect on language ability. MT has the potential to be an effective complement to regular social skill training.

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