1. Almousa LA, Alshwaiyat NM, JZ AL, Alagal RI, Alsemari MA, AlFaris NA. Prevalence of Malnutrition Among School-Aged Children With and Without Intellectual and Developmental Disabilities in Saudi Arabia: A Cross-Sectional Study. Food Sci Nutr;2026 (May);14:e71816.

Globally, millions of children live with intellectual and developmental disabilities (IDD), which can raise the risk of malnutrition in children. Data from Saudi Arabia on school-aged children with IDD remain limited. Therefore, this study aimed to determine the prevalence of malnutrition among school-aged children with and without IDD in Saudi Arabia. This cross-sectional study was conducted during August-December of 2024 at the Child Development Center at University Hospital, Riyadh, Saudi Arabia. School-aged children (5-17 years) with clinician-diagnosed autism spectrum disorder (ASD), Down syndrome (DS), attention deficit/hyperactivity disorder (ADHD), or cerebral palsy (CP) and age-matched children without IDD were recruited. Weight and height were measured, and body mass index (BMI) was calculated. WHO Growth Reference 2007 (5-19 years) was used to generate BMI-for-age z-scores (BAZ) and height-for-age z-scores (HAZ) using WHO AnthroPlus; weight-for-age z-scores (WAZ) were computed only for children aged ≤ 10 years. Malnutrition was defined as undernutrition (thinness and/or stunting and/or underweight) and/or overnutrition (overweight and/or obesity). A total of 168 children participated (IDD, n = 68; non-IDD, n = 100). Overall malnutrition prevalence was similar in children with and without IDD (47% vs. 48%; risk ratio [RR] 0.98, 95% CI 0.71-1.36; p = 0.905). Overnutrition was more common than undernutrition in both groups (IDD: 29% overnutrition vs. 25% undernutrition; non-IDD: 32% vs. 28%). Although overall prevalence was comparable, marked heterogeneity was observed across IDD subtypes (malnutrition: DS 90%, ADHD 50%, CP 48%, ASD 24%; χ (2) (3) = 12.02, p = 0.007; FDR-adjusted q = 0.022). Concurrent stunting and overweight/obesity (individual-level double burden) was observed in 12% of non-IDD children and 7% of children with IDD. In conclusion, nearly half of this hospital-based sample of Saudi school-aged children had evidence of malnutrition, with overnutrition exceeding undernutrition. While overall malnutrition prevalence did not differ between children with and without IDD, the distribution across IDD subtypes was clinically meaningful. Routine growth monitoring and targeted nutrition support are needed in both clinical and school settings.

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2. Dehghanbanadaki H, Chen J, Thorogood SL, Ramsay JM, Hotaling JM. Epigenetic Signatures in Family Clusters: Links Between Male Fertility and Autism Risk. Urology;2026 (Apr 22)

Autism spectrum disorder prevalence has increased globally. Emerging evidence implicates paternal genetic and epigenetic factors, particularly sperm DNA methylation alterations, in shaping offspring neurodevelopmental risk. Advanced paternal age is associated with increased de novo mutations and epigenetic changes in germ cells. Recent studies have explored distinct sperm methylation signatures in fathers of autistic children, often involving genes critical for neural signaling, transcription, and synaptic function. Longitudinal analyses further linked paternal sperm methylation patterns-including WWOX, SALL3, and A2BP1 (RBFOX1)-with autistic traits in both fathers and their children, supporting intergenerational epigenetic transmission of ASD susceptibility.

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3. Maffioli E, Errico F, Motta Z, di Vito R, Grana J, De Grandis E, Boeri S, Bruno C, Riccio MP, Iasevoli F, Di Maio M, Nuzzo T, Bravaccio C, Bagnasco S, Gelzo M, Castaldo G, de Bartolomeis A, Negri A, Pollegioni L, Tedeschi G, Usiello A. Blood levels of D-aspartate oxidase, D-amino acid oxidase, serine racemase, and pLG72 are influenced by diagnoses of schizophrenia and autism spectrum disorder. Schizophrenia (Heidelb);2026 (Apr 25)

Free D-serine (D-Ser) and D-aspartate (D-Asp) are increasingly recognized as key modulators of glutamatergic NMDA receptor-dependent neurotransmission, whose dysfunction has been implicated in neuropsychiatric conditions, including schizophrenia (SCZ) and autism spectrum disorder (ASD). The metabolism of these D-amino acids is tightly regulated by specific enzymes: serine racemase (SR) for D-Ser synthesis and degradation, and D-amino acid oxidase (DAAO) and D-aspartate oxidase (DASPO) for D-Ser and D-Asp degradation, respectively. The primate-specific protein pLG72 further modulates the activity of DAAO and DASPO. In this multicenter study, we employed a mass spectrometry (MS)-based approach to quantify SR, DAAO, DASPO, and pLG72 levels in serum samples from SCZ and ASD patients, along with matched non-psychiatric controls. Enzymatic activity and D-amino acid serum concentrations were also assessed. We identified distinct, disorder-specific alterations in these proteins. In SCZ patients, SR protein levels were elevated despite unchanged activity, while DAAO and pLG72 levels were decreased. Conversely, increased DASPO levels were associated with reduced D-Asp, indicating enhanced catabolism of this endogenous NMDA receptor ligand in SCZ. ASD patients exhibited elevated DAAO and DASPO, with reduced SR levels. Notably, positive correlations between pLG72 and both DAAO and DASPO flavoenzymes were observed in both disorders. These findings highlight the potential of D-amino acid metabolism-related enzymes as biomarkers for SCZ and ASD and provide new insights for future diagnostic and mechanistic investigations in neurodevelopmental disorders.

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4. Matheny-Rabun C, Holloway L, Corning K, Louie R, Lu P, Smol T, Boussion S, Woods E, Johnson D, Williams C, Steet R, Friez M, Arno G, Stevenson R, Flanagan-Steet H. Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism. NPJ Genom Med;2026 (Apr 24)

X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays. It has been estimated that 10% of the genes on the X-chromosome are associated with at least one form of intellectual disability. To date, genetic variants in 172 genes have been associated with XLID. Clinically, these disorders are highly variable, with some exhibiting multi-system involvement and others limited only to intellectual impairment. Here we describe a new XLID condition caused by defects in RPS4X, which encodes a component of the small (40S) subunit of the ribosome. Genetic testing of two male siblings with dysmorphic facial features, microcephaly, global developmental delay, and autism revealed a maternally inherited missense variant in RPS4X. Studies in patient fibroblasts and zebrafish indicate this RPS4X variant is pathogenic, with functional findings consistent with the clinical presentation. Four additional individuals with intellectual disability were identified through the GeneMatcher and the 100,000 Genomes project that also bear RPS4X variants. Together, these data support RPS4X as a new XLID-associated gene, expanding the involvement of ribosomal components in genetic disease.

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5. Pérez Bello AT, Galperin G, Frack Auger ME, Graizman Kohan BF, Preto FM, Ortega CM. Xerophthalmia and bilateral optic neuropathy secondary to nutritional deficiency in a patient with autism spectrum disorder: Case report and literature review. Arch Soc Esp Oftalmol (Engl Ed);2026 (Apr 22):502534.

According to the World Health Organization (WHO), chronic vitamin A deficiency is the leading preventable cause of childhood blindness1. Patients with autism spectrum disorder (ASD) represent a high-risk group because they may present eating disorders that lead to severe nutritional deficiencies. We present the case of a pediatric patient diagnosed with ASD who developed xerophthalmia and bilateral optic neuropathy in the context of vitamin A deficiency, associated with vitamin B12 deficiency and anemia, who was managed and followed up through a multidisciplinary approach. The aim of this work is to present a case report accompanied by a literature review to contextualize it, compare it with previously described cases in the scientific literature, and highlight its relevance in diagnostic and therapeutic management.

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6. Pulatov O, Barros R. A name absent from the curriculum: Grunya Sukhareva, triple erasure, and the unfinished history of autism. Eur Child Adolesc Psychiatry;2026 (Apr 25)

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7. Thomas KS, Cooper K, Jones CRG. The Role of Self-Concept Clarity in the Relations Between Disordered Eating, Gender Diversity, and Autistic and ADHD Traits. Arch Sex Behav;2026 (Apr 25)

Self-concept clarity, the degree to which an individual has a well-defined and stable sense of self, is a well-documented factor in mental health conditions, particularly eating disorders. Difficulties with self-concept clarity are also reported among gender diverse and neurodivergent people, who are overrepresented in eating disorder populations. This cross-sectional study examined associations between self-concept clarity (Self-Concept Clarity Scale), autistic traits (Autism Spectrum Quotient), ADHD traits (Adult ADHD Self-Report Scale), gender diversity (Gender Self-Report), and disordered eating, a pattern of atypical eating behaviors and attitudes including food restriction and binge eating (Eating Disorder Examination Questionnaire). Gender diversity was assessed as binary (identity opposite to sex assigned at birth) and nonbinary traits (identity neither female nor male). Participants were 492 UK adults (324 assigned female at birth; 98.6% cisgender, 1.2% trans/gender diverse, 0.2% preferred not to say; M age = 41.44 years, SD = 13.11) recruited online. Correlational and path analysis investigated direct and indirect relations between gender diversity, neurodivergent traits, and disordered eating through self-concept clarity. Autistic traits were indirectly related to disordered eating through self-concept clarity, while ADHD traits showed both direct and indirect associations. Greater binary and nonbinary gender diverse traits were correlated with higher levels of disordered eating but were no longer significantly related once neurodivergent traits, age, and sex assigned at birth were controlled. Findings suggest low self-concept clarity may provide a mechanism for increased disordered eating in individuals with higher levels of neurodivergent traits, but not among those with gender diverse traits when covariates are considered.

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8. Turner TN. Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions. Hum Genomics;2026 (Apr 24)

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9. Wang X, Rios E, Chen L. E/I imbalance and internal noise cause weak neural representations and face recognition challenges in ASD. Commun Biol;2026 (Apr 24)

Individuals with Autism Spectrum Disorder (ASD) are known for their socio-communicative challenges, including face recognition. It is unclear, however, about its neurocomputational basis and links to neurobiological factors, such as an imbalance of excitatory and inhibitory signals (E/I imbalance) or excessive internal noise (IN). This study employed Convolutional Neural Network (CNN) models to simulate face recognition in typical populations and ASD based on the claims of E/I imbalance and IN theories. We demonstrated that CNN models with non-optimal ReLU slopes or noisy activations yielded poorer performance in face recognition and exhibited atypical neural representations of faces. Overall, simulations based on the E/I imbalance theory seem to encompass a broader range of behavioral and neural profiles in ASD. Our theory-driven approach used CNN models to test neurobiological theories, and our results provide causal evidence on a potential mechanism by which neurobiological factors influence face recognition in ASD.

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