Int. J. Dev. Neurosci. [JOURNAL]
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200 papers
Scaphocephaly as a Novel Phenotypic Feature of WDR83OS-Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review.
Soğukpınar M, Kılınç Ş, Sayıcı BU
Int J Dev Neurosci · 2026 Aug · PMID 42397082 · Publisher ↗
WDR83OS-related neurodevelopmental disorder is a rare autosomal recessive condition characterized by developmental delay, dysmorphic features and variable hepatic involvement, particularly hypercholanaemia. Here, we repo...
WDR83OS-related neurodevelopmental disorder is a rare autosomal recessive condition characterized by developmental delay, dysmorphic features and variable hepatic involvement, particularly hypercholanaemia. Here, we report a female patient presenting with global developmental delay, syndromic facial features and scaphocephaly due to sagittal craniosynostosis, representing a previously unreported phenotypic feature. The patient was born to consanguineous parents and exhibited delayed motor and language milestones. Physical examination revealed characteristic dysmorphic features, whereas routine laboratory findings, including liver function tests, were within normal limits. Serum bile acid levels were not assessed. Cranial imaging confirmed sagittal craniosynostosis. Whole exome sequencing identified a novel homozygous nonsense variant in WDR83OS, classified as likely pathogenic according to ACMG criteria. No additional candidate variants, including those associated with craniosynostosis, were detected. This case possibly expands the phenotypic spectrum of WDR83OS-related disorder by identifying scaphocephaly as a novel feature. Our findings highlight the importance of comprehensive genomic evaluation in syndromic neurodevelopmental disorders and suggest that WDR83OS should be considered in the differential diagnosis of patients with craniosynostosis and developmental delay, even in the absence of overt hepatic involvement.
Sales-Training-Inspired Optimization for Deep High-Order Principal Network in Autism Spectrum Disorder Classification.
Venkatakrishnamoorthy T, Chinta A, Sujatha P … +1 more , Angadi A
Int J Dev Neurosci · 2026 Aug · PMID 42366641 · Publisher ↗
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviours. Diagnosing ASD early is difficult for healthcare professionals due to its diverse...
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviours. Diagnosing ASD early is difficult for healthcare professionals due to its diverse and intricate presentation. However, early detection is vital for enhancing outcomes and enabling the children to access targeted therapies that support the development of social and communication skills. Moreover, Classical models were time-consuming and resource-intensive, and they required lengthy assessments and specialized training. To bridge these complications, this research proposes a Sales Training-Based Optimization enabled Deep High-Order Principal Component Network (STBO_DHPCNet) for ASD classification using resting-state fMRI (rs-fMRI) brain images from 1114 subjects in the ABIDE dataset. First, gamma correction is applied to enhance the quality of the autism brain image. Next, the Region of Interest (ROI) extraction is performed. Afterwards, the nub region extraction is performed based on Sales Training Based Optimization (STBO). On the other hand, feature extraction is done based on an enhanced brain image. Finally, the classification of ASD is done by using DHPCNet, and it is trained using STBO. Here, DHPCNet is developed by incorporating the Deep High-Order Attention Neural Network (DHA-Net) and Principal Component Analysis Network (PCA-Net). Moreover, the evaluation results show that the DHPCNet gained an increased range of accuracy, sensitivity and specificity as 95.62%, 94.79%, and 95.86%.
Turkish Validity and Reliability Study of the Executive Functioning Scale and the Daily Living Skills Scale in Children and Adolescents.
Karaca BŞ, Sapmaz ŞY, Özyurt G … +3 more , Binici NC, Ayaslan Z, Aydemir Ö
Int J Dev Neurosci · 2026 Aug · PMID 42357841 · Publisher ↗
OBJECTIVE: This study examined the psychometric properties of the Turkish versions of the Executive Functioning Scale (EFS) and the Daily Living Skills Scale (DLSS) in children and adolescents. METHODS: The sample includ...
OBJECTIVE: This study examined the psychometric properties of the Turkish versions of the Executive Functioning Scale (EFS) and the Daily Living Skills Scale (DLSS) in children and adolescents. METHODS: The sample included 197 participants (11-18 years), comprising 107 with neurodevelopmental disorders and 90 healthy controls. Internal consistency was assessed using Cronbach's alpha, and test-retest reliability was evaluated over 2 weeks in a subsample of 37 parents. Construct validity was examined with confirmatory factor analysis. Convergent validity of the EFS was assessed using correlations with the Teenage Executive Functioning Inventory (TEXI) and Trail Making Test (TMT); DLSS convergent validity was examined via correlations with the TEXI and EFS. Discriminant validity was determined by comparing clinical and control groups. RESULTS: The EFS showed high internal consistency (α = 0.969; subscales: 0.704-0.922) and strong test-retest reliability (r = 0.869). EFS total scores correlated strongly and negatively with TEXI (r = -0.78, p < 0.001), and TMT-B scores were significantly related to several EFS subscales. The DLSS had high internal consistency (α = 0.959) and good test-retest reliability (r = 0.823). DLSS total scores correlated negatively with TEXI (r = -0.495) and positively with EFS (r = 0.572). Both scales distinguished between clinical and control groups (p < 0.001). However, CFA findings indicated inadequate model fit for both scales (EFS: CFI = 0.636, RMSEA = 0.117; DLSS: CFI = 0.411, RMSEA = 0.191), suggesting that the original factor structures were not adequately replicated in the current sample. CONCLUSION: The Turkish versions of the EFS and DLSS demonstrated strong internal consistency, acceptable test-retest reliability and supportive evidence of convergent and known-groups validity. However, confirmatory factor analyses did not adequately support the original factor structures of either scale. Therefore, further studies are needed to clarify the structural validity and latent dimensional structure of these instruments in Turkish populations.
Neuropsychiatric Features, ADHD and Cognitive Disengagement Syndrome in Children and Adolescents With Celiac Disease: A Controlled Study.
Ateş Evliyaoğlu Z, Çıray O, Öztürk Y … +1 more , Akay A
Int J Dev Neurosci · 2026 Aug · PMID 42357820 · Publisher ↗
BACKGROUND: Celiac disease is an important gastrointestinal disorder affecting many children and adolescents worldwide. Although psychiatric conditions associated with celiac disease have been previously investigated, st...
BACKGROUND: Celiac disease is an important gastrointestinal disorder affecting many children and adolescents worldwide. Although psychiatric conditions associated with celiac disease have been previously investigated, studies examining its relationship with newly identified psychiatric diagnoses are limited. The aim of this study was to examine the relationship between attention-deficit/hyperactivity disorder (ADHD) and a newer diagnostic construct, cognitive disengagement syndrome (CDS). METHOD: The study included children and adolescents aged 7-18 years with a confirmed diagnosis of celiac disease who were followed at a university hospital, as well as a control group of nonceliac patients attending the same hospital. The two groups were compared in terms of CDS scores, ADHD scores as well as depression and anxiety levels. RESULTS: A total of 128 participants were included, comprising 64 children with celiac disease and 64 controls. Statistically significant differences were observed between the groups in total ADHD and total CDS scores (p < 0.05). In addition, depression and anxiety scores differed significantly between the groups (p < 0.01). Specific CDS items, such as SCT-1 and SCT-10, also showed significant differences (total Hedge's g = 0.799, p < 0.05). CONCLUSION: These findings suggest that celiac disease is associated with both ADHD and CDS. Therefore, in the clinical management of children with celiac disease, it is important to consider not only gastrointestinal symptoms but also potential neuropsychiatric manifestations, including attention and cognitive disengagement difficulties, in order to provide comprehensive care.
The Bright Side of the Spectrum: Self-Limited Infantile Epilepsy-Related SCN8A Gof Variant.
Keskin F, Günay Ç, Doğan G … +2 more , Baydan F, Sarıkaya Uzan G
Int J Dev Neurosci · 2026 Aug · PMID 42357809 · Publisher ↗
Sodium channelopathies represent a leading monogenic cause of epilepsy, epileptic encephalopathy and autism spectrum disorder. Pathogenic variants in voltage-gated sodium channels can lead to either gain-of-function or l...
Sodium channelopathies represent a leading monogenic cause of epilepsy, epileptic encephalopathy and autism spectrum disorder. Pathogenic variants in voltage-gated sodium channels can lead to either gain-of-function or loss-of-function, resulting in highly diverse clinical phenotypes associated with the same gene. In this case report, we aimed to discuss a patient who presented with afebrile seizures at 6 months of age and was diagnosed with 'self-limited infantile epilepsy (SeLIE)' following the identification of a gain-of-function pathogenic variant in the SCN8A gene, in light of current guidelines and consensus recommendations. Furthermore, considering recent advancements, we aimed to emphasize that bioinformatic software tools for assessing the functional impact of pathogenic variants in ion channels can serve as a crucial guide for clinicians in treatment selection.
Domain-Specific Cognitive Vulnerabilities in ADHD: The Impact of Comorbid Specific Learning Disorder on WISC-IV Profiles.
Adıgüzel Akman Ö, Bıyıklı C
Int J Dev Neurosci · 2026 Aug · PMID 42338098 · Publisher ↗
AIM: Attention-deficit/hyperactivity disorder (ADHD) is associated with heterogeneous cognitive profiles, yet the extent to which comorbid Specific Learning Disorder (SLD) contributes to domain-specific cognitive variabi...
AIM: Attention-deficit/hyperactivity disorder (ADHD) is associated with heterogeneous cognitive profiles, yet the extent to which comorbid Specific Learning Disorder (SLD) contributes to domain-specific cognitive variability remains unclear. This study aimed to examine Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) index-level cognitive profiles in children with ADHD and to evaluate the independent impact of comorbid SLD using regression-based and discriminative analyses. MATERIALS AND METHODS: This retrospective study included 105 children aged 6-16 years diagnosed with ADHD in a clinical setting. Cognitive functioning was assessed using WISC-IV index scores (Verbal Comprehension, Perceptual Reasoning, Working Memory, and Processing Speed). Group comparisons were conducted based on the presence of comorbid SLD. Pearson correlation and multiple linear regression analyses were performed to identify independent predictors of cognitive performance. In addition, receiver operating characteristic (ROC) analysis was used to assess the discriminative utility of cognitive indices. RESULTS: Working Memory Index (WMI) scores were the lowest among all WISC-IV domains. Children with ADHD and comorbid SLD demonstrated significantly lower scores in Verbal Comprehension, Perceptual Reasoning, and Working Memory compared with those with ADHD alone (p < 0.05), whereas the between-group difference in Processing Speed did not reach statistical significance. Regression analyses confirmed that SLD was independently associated with lower Perceptual Reasoning and Working Memory scores. Despite statistically significant group differences, effect sizes were modest and ROC analysis indicated limited discriminative performance (AUC = 0.58). These differences, however, were modest in magnitude. CONCLUSIONS: These findings suggest that comorbid SLD in children with ADHD is associated with a domain-specific pattern of cognitive vulnerability, with working memory emerging as the most prominently affected cognitive domain, rather than reflecting a generalized cognitive impairment. However, the modest effect sizes and limited discriminative utility indicate that these differences should be interpreted as clinically informative rather than diagnostically definitive. This study highlights the importance of domain-specific cognitive assessment in clinically referred ADHD populations.
Analysis of Content Characteristics of Partial Biochemical Substances in Peripheral Blood of Autism Spectrum Disorder Model Rats at Different Weeks of Age.
Jun T, Juan C, Xin L … +4 more , Yingli W, Yatu G, Rui H, Wei Z
Int J Dev Neurosci · 2026 Aug · PMID 42332381 · Publisher ↗
OBJECTIVE: To observe the content characteristics and variation rules of partial biochemical substances in peripheral blood of autism model rats at different weeks of age. METHODS: This was an experimental study. Time-ma...
OBJECTIVE: To observe the content characteristics and variation rules of partial biochemical substances in peripheral blood of autism model rats at different weeks of age. METHODS: This was an experimental study. Time-mated female Sprague-Dawley (SD) rats were given a single intraperitoneal injection of 600 mg/kg valproic acid (VPA) and 20 mg/kg polyinosinic:polycytidylic acid (poly I:C) on gestational day 12.5. Offspring rats were screened as autism model rats through behavioural tests including stereotypic behaviour assessment, marble burying test and three-chamber social interaction test. A total of 12 autism model rats (six males and six females) were selected as the experimental group, and 12 normal rats (six males and six females) were selected as the control group. Periorbital venous blood samples were collected at 2, 4, 6 and 8 weeks of age, respectively. Enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of brain-derived neurotrophic factor (BDNF), glutathione (GSH), neurotrophin-3 (NT3), neurotrophin-4 (NT4), interleukin-6 (IL-6) and serotonin (5-HT) in peripheral blood. The content characteristics of the aforementioned biochemical substances between the experimental group and the control group, as well as the dynamic changes in blood test results of rats at different weeks of age, were compared. RESULTS: At 2 and 4 weeks of age, the levels of BDNF, NT3, NT4, IL-6 and 5-HT in peripheral blood of autism model rats were significantly higher, whereas the level of GSH was significantly lower than those of normal rats (p < 0.05). At 6 weeks of age, the level of IL-6 was significantly higher and the level of GSH was significantly lower in the experimental group than in the control group (p < 0.05), whereas there were no significant differences in BDNF, NT3, NT4 and 5-HT levels between the two groups (p > 0.05). At 8 weeks of age, the levels of BDNF, NT3, NT4, GSH and 5-HT in the experimental group were significantly lower, whereas the level of IL-6 was significantly higher than those in the control group (p < 0.05). No significant differences were found in the levels of the aforementioned substances between male and female rats within both groups (p > 0.05). CONCLUSION: With the increase of age, the levels of BDNF, NT3, NT4 and 5-HT in peripheral blood of autism model rats gradually decrease to the level of normal rats and eventually become lower than those of normal rats. The level of IL-6 remains high and the level of GSH remains low throughout the whole life cycle of autism model rats. The dynamic changes and status of these factors in peripheral blood may provide certain references for the blood research of children with autism spectrum disorder.
A Novel De Novo Frameshift Variant of TBL1XR1 Leads to Neurodevelopmental Disorders and Treatment Experience.
Cao F, Xie J, Huang Z … +2 more , Xiong L, Zha J
Int J Dev Neurosci · 2026 Jun · PMID 42281549 · Publisher ↗
BACKGROUND: Neurodevelopmental disorders were a wide range of cognitive and behavioural disorders. Its pathogenic genes, transduction beta like 1 X-linked receptor 1 (TBL1XR1), had been a hot research topic recently. How...
BACKGROUND: Neurodevelopmental disorders were a wide range of cognitive and behavioural disorders. Its pathogenic genes, transduction beta like 1 X-linked receptor 1 (TBL1XR1), had been a hot research topic recently. However, reports involving treatment and long-term follow-up were still limited. METHODS: Exome sequencing of the family was performed. The clinical data and genetic variants, treatment and long-term follow-up were summarized. Moreover, treatment of published cases was also summarized to systematically understand its treatment strategies. RESULTS: Genetic screening revealed a de novo variant of TBL1XR1 [NM_024665.7: c.1372_1387dup, p.Asp463Glyfs*6]. The variant was a 16-bp nucleotide duplication in exon 14, caused a conversion of the aspartic amino acids to glycine amino acids at the 463rd and finally generated a stop codon 6 amino acids after the 462nd amino acids. It was classified as a variant of pathogenic (P) according to the ACMG (American College of Medical Genetics and Genomics) guidelines. Valproic acid was administered up to 20 mg/kg/day, which resulted in satisfactory seizure control. Long-term follow-up confirmed the complete disappearance of seizures at 5 and 6 months of age, although hyperactivity, attention deficit and global developmental delay persisted. CONCLUSION: Our results expanded the pathogenic variant spectrum and treatment of TBL1XR1-related neurodevelopmental disorders.
Gender-Specific Behavioural and Nociceptive Alterations in an Autism Model Induced by Prenatal Exposure to Lipopolysaccharide.
Teodorov E, da Silva RAF, Bernardi MM … +1 more , Delapena-Silva LM
Int J Dev Neurosci · 2026 Jun · PMID 42272226 · Publisher ↗
Autism spectrum disorders (ASD) are frequently associated with sensory abnormalities, particularly altered pain sensitivity, which may manifest as either hypo- or hypersensitivity to painful stimuli. Despite the higher p...
Autism spectrum disorders (ASD) are frequently associated with sensory abnormalities, particularly altered pain sensitivity, which may manifest as either hypo- or hypersensitivity to painful stimuli. Despite the higher prevalence of ASD in males, few studies have investigated sex differences in pain sensitivity within animal models of autism. This study evaluated thermal and mechanical pain sensitivity in male and female rats at juvenile, pubertal and adult stages, using a model of autism induced by prenatal exposure to lipopolysaccharide (LPS). Reduced social behaviour, a critical behaviour impairment in autism, was assessed, and molecular analyses of Oprm1 gene expression and mu-opioid receptor (MOR-1) protein levels in the periaqueductal grey (PAG) were performed in adulthood. At weaning, both male and female offspring prenatally exposed to LPS exhibited reduced social behaviour, consistent with behavioural phenotypes observed in ASD models. In mechanical nociceptive tests, males and females showed similar pain sensitivity at weaning, whereas only males displayed decreased sensitivity at puberty and adulthood. In thermal tests, males showed reduced nociceptive responses across all ages, whereas females exhibited this pattern only during the juvenile and pubertal stages. Both sexes in the LPS group showed increased Oprm1 gene expression in the PAG; however, MOR-1 protein content was decreased in males and increased in females in adulthood. Thus, our model of autism-induced hypoalgesia via enabling the opioid system, mainly in male rats. Sexual dimorphism was observed in both pain tests and MOR-1 protein levels in adult rats, with female rats being less sensitive to pain.
Effects of Pregestational Stress and Concomitant Administration of Dracocephalum moldavica Extract on Seizure Behaviours in Next Generation Developing Rats.
Ramezanikhah H, Ghassemifard L, Saboory E … +1 more , Jafari P
Int J Dev Neurosci · 2026 Jun · PMID 42216841 · Publisher ↗
OBJECTIVE: Little is known about how the effects of pregestational stress on seizure susceptibility in male and female offspring might be attenuated. The current study was undertaken to determine whether Dracocephalum mo...
OBJECTIVE: Little is known about how the effects of pregestational stress on seizure susceptibility in male and female offspring might be attenuated. The current study was undertaken to determine whether Dracocephalum moldavica (DM) administration during gametogenesis could affect stress-precipitated pentylenetetrazol (PTZ)-induced seizure in the offspring of rats. METHODS: Male and female Wistar rats were subjected to restraint stress and administered 100 mg/kg of DM extract orally for 50 days (males) or 15 days (females). The rats were then mated to generate eight coupling combinations, comprising four groups without DM extract and four groups with extract: McFc, McFs, MsFc, MsFs, McFc + EX, McFs + EX, MsFc + EX and MsFs + EX (M: male; F: female; C: control; S: stress; EX: extract). Pregnant dams were left undisturbed throughout gestation. Following parturition, each dam and her litter were housed in a separate cage under standard laboratory conditions until weaning. Offspring body weight was recorded at multiple time points. On the postnatal day (PND) 26, two pups per dam, one male and one female, were administered pentylenetetrazol (PTZ) intraperitoneally and evaluated for PTZ-induced seizures. RESULTS: The DM extract significantly enhanced weight gain in offspring across all experimental groups compared with control pups. In addition, DM extract treatment reduced both the frequency and duration of tonic-clonic seizures. Notably, the latency to the first epileptic manifestation was significantly prolonged in the MsFc+EX group compared with its corresponding control. CONCLUSION: The results indicated that DM extract attenuates pregestational stress precipitating epileptic behaviours probably by suppressing oxidative stress.
Narcissistic Traits, Self-Esteem and Aggression Symptoms in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder.
Öcal GK, Önder A, Adanır AS … +1 more , Çoban ÖG
Int J Dev Neurosci · 2026 Jun · PMID 42206583 · Publisher ↗
Although it is well established that many children diagnosed with Attention-Deficit/Hyperactivity Disorder (ADHD) experience considerable difficulties during the transition to adolescence, the specific pathways linking c...
Although it is well established that many children diagnosed with Attention-Deficit/Hyperactivity Disorder (ADHD) experience considerable difficulties during the transition to adolescence, the specific pathways linking childhood ADHD to aggressive behaviour remain insufficiently understood. Therefore, this study aims to examine self-esteem, narcissistic traits and aggressive behaviours in adolescent boys with ADHD to clarify the psychological mechanisms that may contribute to the emergence or maintenance of aggression within this population. The study group comprised 80 boys aged 9-14 years with ADHD, and the control group comprised 41 healthy boys. Parents completed the Strengths and Difficulties Questionnaire, Aggression Scale for Children-Parent Form, Narcissistic Personality Inventory and Turgay ADHD Rating Scale. Children and adolescents completed the Rosenberg Self-Esteem Scale and the Childhood Narcissism Scale, respectively. The ADHD group exhibited significantly lower self-esteem scores and higher child narcissism and aggression scores. However, no significant correlations were found between the children's narcissism scale scores and the subscales of the aggression scale. This study highlights the importance of therapeutic interventions that address narcissism and self-esteem, even in the absence of a direct link to aggression.
Microplastics as a Silent Threat to Child Neurodevelopment: Evidence and Perspectives on Autism.
Grillo DS, de Carvalho Alencar ME, da Silva Ribeiro Souza V … +3 more , Pinheiro APB, Monteiro N, de Araújo Machado RJ
Int J Dev Neurosci · 2026 Jun · PMID 42167912 · Publisher ↗
Autism spectrum disorder (ASD) is caused by an interaction of both environment and genetics. Recently, there has been an increased focus on how environmental toxins may alter a child's biological systems. Microplastics a...
Autism spectrum disorder (ASD) is caused by an interaction of both environment and genetics. Recently, there has been an increased focus on how environmental toxins may alter a child's biological systems. Microplastics and nanoplastics are of great interest to researchers due to their ubiquitous nature and potential to interact with the human body. Through ingestion, inhalation and dermal contact, humans can consume both sizes of particles, which may enter the blood stream and under some circumstances pass the blood-brain barrier impacting the central nervous system. Studies on exposure to microplastics indicate an increase in oxidative stress and inflammation as well as a decline in attention and memory. Smaller, nanoplastic particles appear to be able to bypass biological barriers and elicit more drastic responses. In this review, studies ranging from 2020 to 2025 focusing on microplastics exposure and neurodevelopment including the potential for impact on ASD were sought and selected based on defined criteria, of which six studies ultimately met the criteria. Currently, there is no evidence for a causal relationship between microplastic particles and ASD; however, it appears to be a potential environmental factor influencing neurodevelopment. These findings highlight the necessity for more clinical study and long-term research in this area.
Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder.
Ahmed Z, Thahiem S, Bakhsh A … +3 more , Khan MJ, Umair M, Khan H
Int J Dev Neurosci · 2026 May · PMID 42153968 · Publisher ↗
Congenital NAD deficiency (CNDD) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, frequently affecting the spine, kidneys, heart and nervous system. NADSYN1 is one of the genes of th...
Congenital NAD deficiency (CNDD) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, frequently affecting the spine, kidneys, heart and nervous system. NADSYN1 is one of the genes of the NAD pathway that is mutated in CNDD. Here, we report a 5-year-old boy from a consanguineous family presenting with multiple vertebral segmentation defects, developmental delay and intellectual and speech impairment. To identify the disease-causing variant, whole-exome sequencing (WES) coupled with Sanger sequencing was performed. WES identified a biallelic missense variant c.193C>T (p.His65Tyr) in the NADSYN1 gene affecting a highly conserved amino acid within the glutaminase domain. This case expands the clinical and mutational spectrum of NADSYN1 related CNDD, highlighting a predominantly skeletal phenotype with neurodevelopmental involvement and emphasizing the importance of NAD biosynthesis in early development.
Redefining Peer Tutoring: Academic and Social Gains Through Twice-Exceptional Student Leadership.
Kahveci G
Int J Dev Neurosci · 2026 May · PMID 42137943 · Publisher ↗
This study explored the dual effects-both academic and social-of a peer tutoring framework where a twice-exceptional student with autism spectrum disorder (2e-ASD) served as a tutor for three students with learning disab...
This study explored the dual effects-both academic and social-of a peer tutoring framework where a twice-exceptional student with autism spectrum disorder (2e-ASD) served as a tutor for three students with learning disabilities (LDs). The goal was to assess whether peer-mediated instruction could improve tutees' reading accuracy while fostering tutors' social development. Using a multiple baseline design across participants, with a numerous probe structure, ensured rigorous methodology and intervention fidelity. Reading accuracy was systematically monitored across phases, and social validity feedback from parents and educators offered insights into perceived academic and social outcomes. The results showed significant, sustained improvements in reading accuracy for all students with LD following the peer tutoring intervention. At the same time, qualitative feedback highlighted notable enhancements in the tutor's social engagement, communication and self-confidence. Stakeholders observed that the tutoring structure promoted positive peer relationships and increased classroom participation. These findings highlight the mutual benefits of peer tutoring, especially when the strengths of twice-exceptional learners are deliberately incorporated into instructional design. The research adds to growing evidence supporting inclusive, strength-based peer learning models. By demonstrating that peer tutoring can enhance multidimensional learning outcomes, this study presents a scalable instructional approach with practical implications for special education, collaborative learning and teacher training. The findings encourage wider adoption of peer-mediated frameworks that acknowledge and utilize diverse learner profiles.
Personalized Medicine in Autism Spectrum Disorder: Integrating Epigenomics, Microbiome Research and Early Diagnostics.
El Sehrawy AAMA, Aljumaili OI, Axmedov U … +4 more , Khasawneh MAS, Alanazi MA, Smerat A, Basunduwah TS
Int J Dev Neurosci · 2026 May · PMID 42101085 · Publisher ↗
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by persistent difficulties in social communication together with restricted, repetitive patterns of behaviour and sensory-proce...
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by persistent difficulties in social communication together with restricted, repetitive patterns of behaviour and sensory-processing differences. Growing evidence suggests that ASD is shaped by complex interactions among genetic susceptibility, epigenetic regulation, immune signalling, maternal and early-life exposures and gut microbiome-related pathways. However, many of these associations remain biologically plausible rather than definitively causal, particularly when findings from experimental models are considered alongside human clinical data. This narrative review examines recent advances across these interconnected domains, with particular emphasis on maternal immune activation, prenatal nutrition, gut microbial imbalance, epigenetic and molecular mechanisms, emerging therapeutic directions and developing biomarker platforms. We also discuss current diagnostic limitations and evaluate the potential of salivary microRNAs, perinatal metabolic and epigenetic markers, oxidative stress-related measures and microbiome-based profiles as early and biologically informative indicators of ASD risk. Special attention is given to the need for biologically informed stratification, although current subgrouping frameworks remain preliminary and not yet sufficiently validated for routine clinical use. Likewise, candidate biomarkers remain investigational and require stronger evidence for reproducibility, external validation, longitudinal performance and clinically meaningful sensitivity and specificity before they can be considered for screening or precision-guided care. Emerging therapeutic strategies targeting immune, epigenetic and microbiome-related pathways are also reviewed, but most remain preclinical or early-stage and face substantial translational barriers. The convergence of epigenomics, microbiome research and early diagnostic science may help advance a more personalized medicine framework for ASD, provided that future studies improve cross-cohort reproducibility, clarify brain relevance of peripheral signals and develop practical multiomics models that can support clinically meaningful integration.
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.
Vaia Y, Mura E, Bruschi F … +9 more , Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D
Int J Dev Neurosci · 2026 May · PMID 42101073 · Full text
Very long-chain fatty acid elongase-1 (ELOVL1) is essential for fatty acid elongation and is widely expressed in numerous tissues, including the central nervous system, being involved in the elongation of very long-chain...
Very long-chain fatty acid elongase-1 (ELOVL1) is essential for fatty acid elongation and is widely expressed in numerous tissues, including the central nervous system, being involved in the elongation of very long-chain fatty acids (VLCFAs), which are essential for biological processes such as myelin formation. Monoallelic pathogenic variants in ELOVL1 have been described in association to a condition characterized by ichthyosis, spasticity, nystagmus and cerebral hypomyelination, although a similar but more severe presentation has been reported in patients with biallelic variants. We report the case of a new patient affected by ELOVL1-related leukodystrophy. Clinical data regarding pregnancy, delivery, age and symptoms at onset, psychomotor development and molecular diagnosis were systematically collected, as well as data on disease complications, neurological progression, the possible occurrence of epileptic seizures and instrumental examinations performed. The clinical picture was characterized by congenital ichthyosis, progressive spastic paraparesis and nystagmus. Brain MRI showed slightly progressive supratentorial and infratentorial white matter abnormalities, associated with thinning of the corpus callosum. Genetic analysis identified the de novo pathogenic variant p.Ser165Phe in ELOVL1. Although the spectrum of VLCFA catabolism defects is well documented, little is still known about disorders related to their biosynthesis. This study highlights the need to consider ELOVL1 mutations in the differential diagnosis of a child presenting with white matter abnormalities, progressive spastic paraplegia and congenital ichthyosis and emphasizes the importance of thorough neuroradiological and genetic investigations in the diagnosis and understanding of this rare neurometabolic disorder.
Sleep Disturbances and Behavioural Phenotypes in Children With Autism Spectrum Disorder: A Comparative Study With Typically Developing Peers.
Sevincok D, Isik CM, Ozbek MM … +2 more , Ozbay HC, Ozturk M
Int J Dev Neurosci · 2026 May · PMID 42087808 · Publisher ↗
OBJECTIVES: The primary objective of this study was to investigate the relationship between different types of sleep problems and specific behavioural difficulties in children and adolescents with autism spectrum disorde...
OBJECTIVES: The primary objective of this study was to investigate the relationship between different types of sleep problems and specific behavioural difficulties in children and adolescents with autism spectrum disorder (ASD), compared with typically developing children (TDC). METHOD: We compared 40 children and adolescents with ASD and normal intellectual functioning with 50 TDC using the Sleep Disturbance Scale for Children (SDSC), the Conners' Parent Rating Scale-Revised Short (CPRS-RS) and the Repetitive Behaviour Scale-Revised (RBS-R). RESULTS: Participants with ASD had significantly higher scores on CPRS-RS inattention, hyperactivity and stereotyped, self-injurious, compulsive, routine, sameness and restricted behaviours, in addition to higher RBS-R scores. The ASD group also scored higher on the SDSC initiating and maintaining sleep subscale. Correlation analyses demonstrated significant associations between repetitive behaviours and multiple domains of sleep disturbances in the ASD group, whereas no significant correlations remained after Bonferroni correction in the TDC group. Regression analyses revealed that sleep breathing problems were associated with RBS-R Total (β = 0.590, p = 0.001); arousal/waking with compulsive behaviours (β = 0.394, p = 0.014); and sameness behaviours with both timing (β = 0.542, p = 0.012) and overall sleep problems (β = 0.516, p = 0.002) in the ASD group. CONCLUSIONS: In this study, sameness behaviours, compulsive behaviours and total RBS-R scores were significantly associated with several sleep problems in children and adolescents with ASD. These findings add to the literature demonstrating robust associations between specific types of sleep problems and particular behavioural difficulties in this population.
Oculomotor Dysfunctions in Nonreading Tasks in Children With Dyslexia: Saccadic and Optokinetic Findings.
Uçok MS, Dinçer M, Karaçaylı C … +4 more , Bağlıcakoğlu EG, Ayaroğlu P, Bodur Ş, Cöngöloğlu MA
Int J Dev Neurosci · 2026 May · PMID 42083826 · Publisher ↗
BACKGROUND: Dyslexia has been associated with atypical eye-movement control, but whether such differences arise only during reading or reflect broader oculomotor control remains debated. METHODS: We compared 40 children...
BACKGROUND: Dyslexia has been associated with atypical eye-movement control, but whether such differences arise only during reading or reflect broader oculomotor control remains debated. METHODS: We compared 40 children with dyslexia and 40 age/sex matched controls (8-12 years). Binocular eye movements were recorded with infrared video-oculography (VOG) using a clinical VNG platform's oculomotor module. Participants performed a random-step horizontal saccade task (targets at ±15° and ±20° from midline (step amplitudes 5°-40°); pseudo-random 3-4 s intervals). Saccades were detected with manufacturer thresholds (40°/s, 800°/s). Primary outcomes were peak velocity (°/s), accuracy (%) and latency (ms); optokinetic responses (OKR) were analysed for each eye, and we report the interocular OKR difference (%). Trials with blinks/track-loss were excluded a priori. RESULTS: Compared with controls, children with dyslexia showed slower saccades (307.5°/s vs. 453.5°/s), lower accuracy (71.5% vs. 98.5%) and longer latency (260.0 vs. 131.5 ms), all p < 0.001. Right-eye OKR was reduced, whereas left-eye OKR did not differ significantly, and the interocular OKR difference was significantly larger in dyslexia. These group differences remained significant after adjustment for relevant socio-demographic covariates. CONCLUSIONS: Children with dyslexia exhibited robust oculomotor differences during a nonreading task, consistent with altered visually guided saccade control. These results are associative rather than causal and suggest that oculomotor measures may provide complementary insight into dyslexia.
Evaluation of c26:0-Lyso-Phosphatidylcholine Levels in X-Linked Adrenoleukodystrophy: Diagnosis and Biochemical Monitoring.
Guerreiro G, Deon M, Becker G … +2 more , Tedesco L, Vargas CR
Int J Dev Neurosci · 2026 May · PMID 42068145 · Publisher ↗
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by ABCD1 mutations that impair very long-chain fatty acid (VLCFA) degradation, leading to progressive neurological damag...
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by ABCD1 mutations that impair very long-chain fatty acid (VLCFA) degradation, leading to progressive neurological damage and adrenal insufficiency. C26:0-Lysophosphatidylcholine (C26:0-Lyso-PC) has emerged as a robust biomarker for X-ALD and a candidate for newborn screening programs. OBJECTIVES: The objective of this study is to standardize and validate C26:0-Lyso-PC quantification by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and evaluate its diagnostic accuracy in high-risk populations. DESIGN AND METHODS: Reference values were established from 25 healthy controls and compared with five confirmed X-ALD cases (one cerebral childhood form, three heterozygous women and one asymptomatic male). Additionally, 64 DBS samples from individuals at high risk for inborn errors of metabolism (IEM) were tested. Plasma VLCFA were quantified by gas chromatography-mass spectrometry (GC/MS). RESULTS: Control C26:0-Lyso-PC values ranged from 0.13 to 0.25 μg/mL (mean = 0.19 μg/mL). All X-ALD patients exhibited elevated concentrations (0.377-0.787 μg/mL). Among samples from patients at high risk for disease, four were abnormal-two consistent with X-ALD and two with other peroxisomal disorders. Strong correlations were observed between C26:0-Lyso-PC and plasma C26:0 (r = 0.952, p < 0.001) and the C26:0/C22:0 ratio (r = 0.801, p < 0.05). The method demonstrated high reproducibility (intra-assay CV = 8.6% and interassay CV = 12.8%). CONCLUSIONS: C26:0-Lyso-PC measurement in DBS by LC-MS/MS is a rapid, sensitive and reproducible alternative to plasma VLCFA analysis, enabling reliable discrimination of X-ALD and other peroxisomal disorders. These findings support its integration into targeted and population-based screening to allow presymptomatic diagnosis, early intervention and genetic counselling.
Microglia Regulatory and T-Helper Cytokine Profiles in Autism Spectrum Disorder.
Akan Z, Subaşı Turgut F, Öztürk M … +3 more , Kolbaşı B, Unal E, Mete N
Int J Dev Neurosci · 2026 May · PMID 42065128 · Publisher ↗
OBJECTIVE: This study aimed to evaluate serum levels of the microglia-regulating cytokines IL-34 and CSF-1, as well as T-helper cytokines IL-12, IFN-γ, IL-4, IL-10, TGF-β, IL-17 and IL-23, in individuals with autism and...
OBJECTIVE: This study aimed to evaluate serum levels of the microglia-regulating cytokines IL-34 and CSF-1, as well as T-helper cytokines IL-12, IFN-γ, IL-4, IL-10, TGF-β, IL-17 and IL-23, in individuals with autism and healthy controls, and to investigate the relationships between these parameters and the severity of autism symptoms. METHODS: The study sample consisted of 42 children diagnosed with autism spectrum disorder (ASD) and 40 healthy participants. The severity of autism in the patient group was assessed using the Childhood Autism Rating Scale (CARS). Serum levels of IL-34, CSF-1, IL-12, IFN-γ, IL-4, IL-10, TGF-β, IL-17 and IL-23 were measured using the ELISA method. RESULTS: Serum levels of IL-34, CSF-1, IFN-γ, IL-4, IL-10 and IL-17 were significantly higher in the ASD group compared to the control group. IL-34, CSF-1, IFN-γ, IL-4, IL-10 and IL-17 showed significant discriminative power in distinguishing ASD (p < 0.05). ROC analysis indicated that IL-10 had the highest area under the curve (AUC = 0.743; p < 0.001), and Delong test results demonstrated that its discriminative ability was statistically stronger than that of the other parameters. No significant correlations were observed between the examined cytokine levels and autism severity. CONCLUSION: Our findings indicate that IL-34 and CSF-1, along with T-helper-related cytokines (IFN-γ, IL-4, IL-10 and IL-17), were elevated in the ASD group. These alterations may reflect underlying pathophysiological processes. However, due to the cross-sectional design and limited sample size, the findings should be interpreted with caution, and their clinical utility requires further investigation in larger, longitudinal studies.
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