1. Andrews DS, Dakopolos AJ, Lee JK, Heath B, Cordero D, Solomon M, Amaral DG, Nordahl CW. Cortical Thickness Differences in Autistic Children With and Without Intellectual Disability. Autism Res. 2025.

Of the 1 in 36 individuals in the United States who are diagnosed with autism spectrum disorder, nearly 40% also have intellectual disability (ID). The cortex has been widely implicated in neural processes underlying autistic behaviors as well as intellectual ability. Thus, neuroimaging features such as cortical thickness are of particular interest as a possible biomarkers of the condition. However, neuroimaging studies often fail to include autistic individuals with ID. As a result, there are few studies of cortical thickness in autistic individuals across the entire range of intellectual abilities. This study used MRI to evaluate cortical thickness in young autistic children (n = 88, mean age 5.37 years) with a large range of intellectual ability (IQ 19-133) as well as nonautistic, nondevelopmentally delayed (referred to here as typically developing [TD]) peers (n = 53, mean age 5.29 years). We first investigated associations between full scale IQ and cortical thickness in both autistic and TD children. Autistic children had significant negative associations (i.e., thinner cortex, higher IQ) in bilateral entorhinal cortex, right fusiform gyrus, superior, middle and inferior temporal gyri, and right temporal pole that were not present in TD children. Significantly thicker cortex was also observed in these regions for autistic children with ID (i.e., IQ ≤ 70) compared with those without. Last, given the reported correspondence between the severity of autism symptoms and intellectual ability, we compared cortical thickness associations with both IQ and ADOS Calibrated Severity Scores and found these patterns overlapped to a significant degree across the cortex.

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2. Bjornson SE, Perry A. School Satisfaction Predicts Quality of Life for Children With Severe Developmental Disabilities and Their Families. J Appl Res Intellect Disabil. 2025; 38(1): e70013.

BACKGROUND: Children with severe developmental disabilities are frequently excluded from research, and little is known about their quality of life (QoL). Using a mixed-methods approach, this study examined relationships between school factors and QoL for these children and their families. METHOD: 171 parents of children with severe developmental disabilities completed questionnaires. Hierarchical regression analyses were performed examining predictors of child and family QoL. Of the 171 parents, 123 responded to an open-ended question about their children’s school experiences, and responses were analysed qualitatively. RESULTS: Significant predictors of QoL included challenging behaviours, diagnoses, parent self-efficacy, social support and (importantly) school satisfaction. Seven themes related to school experiences were identified qualitatively. CONCLUSION: Many factors contribute to QoL. School has a significant influence on children and their parents and families. Different children have different strengths and difficulties, and school systems need to work with parents to optimise outcomes.

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3. Bottini S, Gillis Mattson J, Herrod J, Sinha C, Scheithauer M, Mevers JL, Scahill L. Qualitative Exploration and Proof of Concept Toward the Development of the Burnout Assessment for Developmental Disability Settings (BADDS) for Behavioral Health Providers. J Autism Dev Disord. 2025.

The present evaluation aimed to begin development of a survey tool for measuring workplace stressors specific to behavioral health providers in clinical settings for autism and related developmental disabilities: the Burnout Assessment for Developmental Disability Settings (BADDS). BADDS development was guided by Patient-Reported Outcomes Measurement Information System (PROMIS(®); Cella et al., (Journal of Clinical Epidemiology, 63(11), 1179-1194, 2010) procedures. We used a qualitative analysis to define the target conceptual model (Phase 1). Using the analysis and reported lived experiences, we generated individual items for the BADDS. We then piloted these items in an online survey study to examine correlations with established measures of burnout (Phase 2). Finally, we used a modified Delphi approach to refine items with an expert panel, resulting in a preliminary item pool for the BADDS (Phase 3). Qualitative interviews produced a framework of four themes and nine sub-themes for analysis. Initial items were written across each theme and sub-theme. Findings from preliminary psychometric evaluation in Phase 2 demonstrated promising internal consistency, score stability, and positive associations with validated measures of burnout level. Finally in Phase 3, an expert panel edited items for relevance and clarity across three iterations of feedback. Though further analysis is needed, the BADDS tool has the potential to provide a conceptual analysis of burnout by identifying workplace stressors impacting behavioral health providers in autism service settings. This is in contrast to existing measures that solely inquire burnout level, but do not identify causes of job stress. Organizations may develop more effective strategies for mitigating burnout within their specific setting by incorporating assessments such as the BADDS into burnout interventions for providers.

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4. Erzurumluoğlu F, Gümüştakım R, Kuş C, Arslan SC. Knowledge, Behaviours, and Attitudes of Family Physicians and Residents About Autism Spectrum Disorder in Turkey: A Descriptive Cross-Sectional Study. Int J Dev Neurosci. 2025; 85(1): e70003.

AIM: Autism Spectrum Disorder (ASD) is a growing social health issue. Primary healthcare institutions are where children most commonly seek help, and family physicians in primary care play a crucial role in early ASD detection. This study aims to assess the knowledge level, behaviours, and attitudes of family physicians and family medicine residents across Turkey, identify factors affecting their knowledge, and raise awareness among physicians. SUBJECT AND METHODS: This descriptive cross-sectional study was conducted between March and June 2022, with the participation of family medicine specialists, residents, and practicing physicians in Turkey. A 50-question survey was administered face-to-face and digitally. The survey comprised 31 questions on sociodemographic information, factors influencing knowledge, attitudes and behaviours about ASD. The second part included a 19-question « Knowledge about childhood autism among health workers » (KCAHW) questionnaire. RESULTS: The study included 392 physicians with a mean age of 32.8 ± 7.9; 60.7% were women. Among the participants, 50.3% were family medicine residents, 21.7% were family medicine specialists, 17.0% were family physicians and 11.0% were contracted family medicine residents. The physicians’ mean KCAHW score was 14.1 ± 2.6. Screening for ASD and following ASD were significantly associated with the perception of knowledge level (p = 0.004; p = 0.028, respectively). A statistically significant relationship was found between paediatric rotation, education about ASD, patient follow-ups and the KCAHW scores. Moreover, 98.2% of physicians believed children with ASD should receive special education, while 79.6% thought ASD carried a social stigma, and 52% believed an ASD diagnosis could lead to discrimination. CONCLUSION: The study found that participants lacked knowledge about comorbidities with ASD, atypical presentations of ASD, and guiding individuals with ASD. However, having a paediatric rotation, receiving ASD training and following up on children with ASD were associated with increased knowledge levels. Screening for and following up on children with ASD also boosted physicians’ self-confidence.

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5. Fernández-Cobos R, Polo-Blanco I, Castroviejo E, Juncal-Ruiz M, Vicente A. What Predicts Early Math in Autism? A Study of Cognitive and Linguistic Factors. J Autism Dev Disord. 2025.

This study aimed to examine early mathematical abilities in young children with autism aged four to seven without intellectual disabilities and their connection with autism severity, non-verbal intelligence, and linguistic abilities (receptive vocabulary and grammar). The study involved 42 children with autism. We assessed participants’ cognitive, mathematical, and linguistic abilities. Their mathematical performance was compared with that of typically developing children using standardized measures. Statistical analyses were conducted to identify potential cognitive or linguistic differences across groups based on mathematical performance, and to determine predictive factors for mathematical abilities in children with autism. The findings indicated a higher prevalence of mathematical difficulties among the participants compared to typically developing children. A classification based on mathematical performance revealed statistically significant differences in cognitive and linguistic variables across groups, particularly in the low-performance group. However, no significant differences were found according to autism severity between the groups. The analysis further identified that a combination of visuo-spatial and linguistic abilities was the most predictive factor for mathematical performance. The study suggests that young children with autism without intellectual disabilities may be more likely to experience mathematical difficulties compared to typically developing children. Assessing cognitive and linguistic abilities could serve as a predictive measure for mathematical difficulties of children with autism, even without a formal diagnosis. Future research, with larger samples or longitudinal approaches, could validate these findings or explore which specific mathematical abilities are more related to non-verbal intelligence and which ones to structural language.

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6. Hadi AF, Arta RK, Kushima I, Egawa J, Watanabe Y, Ozaki N, Someya T. Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population. Neuropsychopharmacol Rep. 2025; 45(1): e12527.

BACKGROUND: Contactin-5 (CNTN5), a neural adhesion molecule involved in synaptogenesis and synaptic maturation in the auditory pathway, has been associated with the pathophysiology of autism spectrum disorder (ASD), particularly hyperacusis. To investigate the role of rare CNTN5 variants in ASD susceptibility, we performed resequencing and association analysis in a Japanese population. METHODS: We resequenced the CNTN5 coding regions in 302 patients with ASD and prioritized rare putatively damaging variants. The prioritized variants were then genotyped in 313 patients with ASD and 1065 controls. Subsequently, we conducted an association study of selected variants with ASD in 614 patients with ASD and 61 057 controls. Clinical data were reviewed for patients carrying prioritized variants. RESULTS: Through resequencing, we prioritized three rare putatively damaging missense variants (W69G, I227L, and L1000S) in patients with ASD. Although we found a nominally significant association between the I227L variant and ASD, it did not remain significant after post hoc correction. Hyperacusis was found in three out of nine patients carrying prioritized variants. CONCLUSION: This study does not provide evidence for the contribution of rare CNTN5 variants to the genetic etiology of ASD in the Japanese population.

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7. Liu G, Liu Y, Chen Z, Zhou S, Ma L. Network analysis of autism traits and problematic mobile phone use and their associations with depression among Chinese college students. Front Psychiatry. 2024; 15: 1521453.

The current study employed network analysis to examine the relationship between symptoms from factor level about autism traits and problematic mobile phone use (PMPU) and to explore their associations with depression. We measured the above three variables in 949 college students in China with Autism Spectrum Quotient (AQ), Smartphone Addiction Scale (SAS), Center for Epidemiological Studies Depression Scale (CES-D). Central and bridge symptoms were pinpointed through the examination of centrality index. In the AQ and PMPU network, results revealed that WD (« Withdrawal »), COR (« Cyberspace-oriented relationship ») and OU (« Overuse ») emerged as the core symptoms. AS (« Attention switching »), CO (« Communication ») and COR (« Cyberspace-oriented relationship ») were the most symptoms bridging the AQ and PMPU communities, suggesting that these symptoms could serve as focal points for interventions aimed at college students with concurrent autism traits and PMPU. SK (« Social skills »), COR (« Cyberspace-oriented relationship »), CO (« Communication »), and DLD (« Daily-life disturbance ») were most strongly associated with depression. In addition, future research should consider various measurement tools and methods to investigate the location of AD (« Attention to detail »), because AD was an isolated symptom in the flow network of depression.

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8. May CP, Whelpley CE, Kaup R. Changing Outcomes for Job Candidates with Autism Spectrum Disorder: The Benefits of Neurodiversity Training and ASD Disclosure. J Autism Dev Disord. 2025.

PURPOSE: Job interviews are often an integral component of the hiring process, but for individuals with autism spectrum disorder (ASD), job interviews can pose an unfair barrier to employment. Although employers may perceive candidates with ASD as qualified, they tend to reject those candidates in interviews because of atypical social interactions. This is true in situations in which evaluators are naïve to candidates’ ASD diagnosis and have no training about neurodiversity. The present study explored whether diagnostic disclosure and/or increased ASD knowledge can reduce bias against ASD candidates. METHODS: We included three conditions: Disclosure-Only, Training-Only, and Training + Disclosure. In all conditions, participants watched mock job interviews of candidates with and without ASD, rated each candidate on several social dimensions, and indicated how likely they were to hire each candidate. In the Disclosure-Only condition, participants were informed prior to each video whether each interviewee had ASD. In the Training-Only condition, participants first completed a neurodiversity training session before watching and evaluating the interviews. The Training + Disclosure condition combined these interventions. RESULTS: In the Disclosure-Only and Training-Only conditions, candidates with ASD were rated less favorably on social dimensions and were less likely to be hired relative to neurotypical (NT) candidates. In the Training + Disclosure condition, ASD candidates were equally likely to be hired as NT candidates, despite receiving less favorable ratings on some social dimensions. CONCLUSION: Combining knowledge of ASD with diagnostic disclosure improves hiring outcomes for individuals with ASD.

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9. Nascimento A, Souto DO, Cruz TKF, de Lima AFB, Oliveira GS, Haase VG. Benefits of the Global Integration Method (Método de Integração Global – MIG) in functional priorities of parents of Brazilian children and adolescents with autism spectrum disorder. BMC Pediatr. 2025; 25(1): 75.

BACKGROUND: Understanding the priorities of parents of children and adolescents with autism spectrum disorder (ASD) is crucial for implementing evidence-based programs. This study aims to identify the functional priorities of parents of Brazilian children and adolescents with ASD, analyze variations in priorities according to the levels of support and age groups of the participants, and categorize the goals according to the categories of the International Classification of Functioning, Disability, and Health (ICF). Additionally, this study aimed to evaluate changes in parents’ performance and satisfaction with functional priorities after intervention with the Global Integration Method (Métodode Integração Global – MIG). METHODS: A total of 241 children/adolescents with ASD (mean age, 6.92 ± 3.61 years) were recruited from different regions of Brazil. 76% (76%) were male, and 40.7% were classified as having support level 2. The Canadian Occupational Performance Measure was administered to parents/caregivers to identify their priorities for their children and to assess changes in performance and satisfaction with priorities after intervention with MIG. The MIG protocol consisted of functional task training in a naturalistic environment (City of Tomorrow) combined with the use of a flexible therapeutic suit (MIG Flex) and was conducted for 3 months, five times a week, for 3-4 h per day. Descriptive statistics were used to provide the priority profile. Pre- and post-intervention data were analyzed using paired t-test. RESULTS: Parents established 1,203 functional priorities. Activities of daily living, behavioral difficulties, communication, play, and social interactions were the main functional priorities in the perception of parents/caregivers. The profiles of functional priorities were similar between the different levels of support and age groups. Approximately 64% of the priorities were classified in the activity domain of the ICF. In general, the MIG program resulted in significant improvements in performance and satisfaction for the majority of functional priorities (p < 0.05). CONCLUSION: Activities of daily living appear to be the main priority of parents of children and adolescents with ASD, regardless of the level of support or age group. The MIG program has been associated with improvements in performance and satisfaction across several of the functional priorities identified by parents.

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10. Nishizaki SS, Haghani NK, La GN, Mariano NAF, Uribe-Salazar JM, Kaya G, Regester M, Andrews DS, Nordahl CW, Amaral DG, Dennis MY. m(6)A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly. Autism Res. 2025.

Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD-DM) seen at three years of age is associated with co-occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD-DM have yet to be delineated. In this study, we identified additional ASD-DM candidate genes with the aim to better define the genetic etiology of this subphenotype of autism. We expanded the previously studied sample size of ASD-DM individuals ten fold by including probands from the Autism Phenome Project and Simons Simplex Collection, totaling 766 autistic individuals meeting the criteria for megalencephaly or macrocephaly and revealing 154 candidate ASD-DM genes harboring de novo protein-impacting variants. Our findings include 14 high confidence autism genes and seven genes previously associated with DM. Five impacted genes have previously been associated with both autism and DM, including CHD8 and PTEN. By performing functional network analysis, we expanded to additional candidate genes, including one previously implicated in ASD-DM (PIK3CA) as well as 184 additional genes connected with ASD or DM alone. Using zebrafish, we modeled a de novo tandem duplication impacting YTHDF2, encoding an N6-methyladenosine (m(6)A)-mRNA reader, in an ASD-DM proband. Testing zebrafish CRISPR knockdown led to reduced head/brain size, while overexpressing YTHDF2 resulted in increased head/brain size matching that of the proband. Single-cell transcriptomes of YTHDF2 gain-of-function larvae point to reduced expression of Fragile-X-syndrome-associated FMRP-target genes globally and in the developing brain, providing insight into the mechanism underlying autistic phenotypes. We additionally discovered a variant impacting a different gene encoding an m(6)A reader, YTHDC1, in our ASD-DM cohort. Though we highlight only two cases to date, our study provides support for the m(6)A-RNA modification pathway as potentially contributing to this severe form of autism.

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11. Schwartz A, Davern N, Herer A, Peace-Urquilla M, Corey J, Muthuramalingam D, Vallabhaneni N. Exploring the Acceptability of a Peer-Delivered Mental Health Intervention to Support Young Adults With Intellectual and/or Developmental Disabilities. J Appl Res Intellect Disabil. 2025; 38(1): e70014.

BACKGROUND: Young adults with intellectual and/or developmental disabilities lack access to mental health supports. Peer-delivered services may fill this gap. We adapted a theory-driven and evidence-based peer mentoring intervention for virtual-delivery and investigated its acceptability and participants’ preliminary response. METHODS: Twelve young adults with intellectual and/or developmental disabilities participated in the 16-week intervention and completed outcome measures at pre-mentoring, post-mentoring and 1-month follow-up. To evaluate acceptability, participants completed interviews and a survey. Preliminary response was measured with the Alexithymia Questionnaire for Children and PROMIS short forms (Self-efficacy for Managing Emotions, Anxiety, and Physical Stress). RESULTS: Participants felt emotionally supported, increased self-understanding, and learned to use coping strategies. Participants reported improvements in alexithymia, self-efficacy for managing emotions and anxiety; no changes were observed for physical stress symptoms. CONCLUSIONS: Participants were satisfied with peer mentoring and data suggest it may have promise to support development of skills that support mental health outcomes.

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12. Sokołowska E, Sokołowska B, Chrapusta SJ, Sulejczak D. Virtual environments as a novel and promising approach in (neuro)diagnosis and (neuro)therapy: a perspective on the example of autism spectrum disorder. Front Neurosci. 2024; 18: 1461142.

Over the last three decades, dynamically evolving research using novel technologies, including virtual environments (VEs), has presented promising solutions for neuroscience and neuropsychology. This article explores the known and potential benefits and drawbacks of employing modern technologies for diagnosing and treating developmental disorders, exemplified by autism spectrum disorder (ASD). ASD’s complex nature is ideal for illustrating the advantages and disadvantages of the digital world. While VEs’ possibilities remain under-explored, they offer enhanced diagnostics and treatment options for ASD, augmenting traditional approaches. Unlike real-world obstacles primarily rooted in social challenges and overwhelming environments, these novel technologies provide unique compensatory opportunities for ASD-related deficits. From our perspective in addition to other recent work, digital technologies should be adapted to suit the specific needs of individuals with ASD.

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13. Tamilson B, Poole N, Agrawal N. The co-occurrence of functional neurological disorder and autism spectrum disorder: a systematic literature review and meta-analysis. Cogn Neuropsychiatry. 2025: 1-28.

BACKGROUND: Recent studies reveal increasing interest in the link between Autism Spectrum Disorder (ASD) and Functional Neurological Disorder (FND), prompting a systematic review and meta-analysis of their co-occurrence. METHOD: The review covered a comprehensive literature search across multiple databases up to November 2024, focusing on peer-reviewed studies of ASD and FND co-occurrence. Twenty-four studies qualified for inclusion. RESULTS: The study included 11,324 participants, predominantly female (73.4%). It estimated the proportion of ASD in FND populations to be 0.10 (95% CI: 0.07-0.15), with significant heterogeneity (I² = 97%, p < 0.01). Subgroup analysis showed variation among different age groups and diagnoses. The proportion of ASD was 0.09 in adults and 0.10 in children with FND, 0.15 in adults and 0.19 in children with Functional Tic-Like Behaviours (FTLB), and 0.07 in children with Functional Seizures (FS). CONCLUSION: Many studies have reported the co-occurrence of ASD in FND, suggesting a higher-than-expected rate of 10%. Emerging themes exploring the overlapping determinants of FND and ASD, are discussed. However, the significance of this correlation and the overlapping determinants that might explain it, require further research due to the heterogeneity in methodologies, settings, conditions studied and findings. The presence of publication bias warrants cautious interpretation of the results.

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14. Wang T, Xue Y, Mohamed ZA, Jia F. Developmental functional brain network abnormalities in autism spectrum disorder comorbid with attention deficit hyperactivity disorder. Eur J Pediatr. 2025; 184(2): 166.

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) often co-occur. Developmental stages significantly influence the variations in brain alterations. However, whether ASD comorbid with ADHD (ASD + ADHD) represents a unique neural characteristic from ASD without comorbid ADHD (ASD-alone), or instead manifests a shared neural correlate associated with ASD across diverse age cohorts remain unclear. This study examined topological properties and functional connectivity (FC) patterns through resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange II. Participants were divided into two age cohorts: childhood (under 12 years) and adolescence (12-18 years), consisting of 171 ASD pediatric patients and 111 typically developing (TD) controls. These cohorts were further classified into subgroups of ASD + ADHD, ASD-alone, and TD controls to compare across the age categories. The age, intelligence quotient, and gender of participants across three groups were matched within childhood and adolescence stages. We constructed functional brain networks, conducted graph-theory analysis, and analysed FC for both age cohorts. The findings revealed that both ASD + ADHD and ASD-alone shared some FC dysfunctions in the Default Mode Network (DMN) and atypical global metrics. Additionally, each group demonstrated unique neural FC and topological profiles that evolved with development. CONCLUSIONS: This study highlights the neural profiles of ASD + ADHD from a developmental perspective and suggests age-considerate approaches in clinical treatments. WHAT IS KNOWN: • ASD + ADHD shared some neural correlate associated with ASD-alone and also had specific neurobiological mechanisms which were different from ASD-alone. • Developmental stages significantly influence the variations in brain alterations observed in ASD or ADHD. WHAT IS NEW: • Both ASD + ADHD and ASD-alone shared some FC dysfunctions in the Default Mode Network and atypical global metrics. • ASD + ADHD and ASD-alone demonstrated unique neural FC and topological profiles that evolved with development.

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15. Wang W, Cheng C, Xu Z, Xue L, Fu W, Zhao J. Five-year-old children with autism spectrum disorders struggle with disengaging attention. Cogn Process. 2025.

It is known that individuals with autism spectrum disorders (ASD) exhibit impairments in shifting attention. However, previous studies have primarily focused on school-aged children and adults with ASD. It remains unclear whether attentional shifting impairments emerge at an early age. Additionally, it is uncertain which specific process-engagement or disengagement-is affected in individuals with ASD. This study investigated the time course of attentional shifting in preschool-aged children with ASD using a Posner cue-target paradigm. The cue-target onset asynchrony was systematically manipulated to reveal both the early facilitation effect of attentional capture (i.e., engagement) and the later inhibitory aftereffect, commonly referred to as inhibition of return (IOR). Results showed an early facilitation effect in both ASD and typically developing (TD) children, indicating that ASD children engaged attention to salient spatial locations. In contrast to TD children, no reliable IOR effect was observed in ASD children, suggesting difficulties in disengaging attention. These findings indicate a selective impairment in attentional disengagement among preschool-aged children with ASD and support the need for early intervention programs focusing on attentional shifting.

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16. Wei LC, Sung CH. Expanding Perspectives on Visual Mental Imagery in Autism: Aphantasia, Enhanced Abilities, and Future Directions. Autism Res. 2025.

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17. Zhao H, Lou H, Yao L, Zhang Y. Diffusion transformer-augmented fMRI functional connectivity for enhanced autism spectrum disorder diagnosis. J Neural Eng. 2025.

Objective.Functional magnetic resonance imaging (fMRI) is often modeled as networks of Regions of Interest (ROIs) and their functional connectivity to study brain functions and mental disorders. Limited fMRI data due to high acquisition costs hampers recognition model performance. We aim to address this issue using generative diffusion models for data augmentation.Approach.We propose Brain-Net-Diffusion, a transformer-based latent diffusion model to generate realistic functional connectivity for augmenting fMRI datasets and evaluate its impact on classification tasks.Main results.The Brain-Net-Diffusion effectively generates connectivity patterns resembling real data and significantly enhances classification performance. Augmentation using Brain-Net-Diffusion increased downstream Autism Spectrum Disorder (ASD) classification accuracy by 4.3% compared to no augmentation. It also outperformed other augmentation methods, with accuracy improvements ranging from 1.3% to 2.2%.Significance.Our approach demonstrates the effectiveness of diffusion models for fMRI data augmentation, providing a robust solution for overcoming data scarcity in functional connectivity analysis. To facilitate further research, we have made our code publicly available at https://github.com/JoeZhao527/brain-net-diffusion.

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18. Zhou Y, Wu J, Xu J, Tu Y, Huang M, Fang C. Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy. Int J Dev Neurosci. 2025; 85(1): e70001.

Menkes disease (MD) is a rare X-linked recessive syndrome that is caused by mutations in the ATP7A gene, which encodes the P-type ATP enzyme. The ATP7A gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis. Patients with the pathogenic variant in the ATP7A gene exhibit a distinctive pattern of severe neurodegeneration, which is often accompanied by specific alterations in hair morphology. The clinical manifestations of MD have been attributed to the dysfunction of copper-dependent enzymes. Here, we report a 7-month-old boy with MD associated with a novel variant of ATP7A (c.1965_1973del, p.Val656_Leu658del). Genetic testing revealed that both his mother and grandmother had identical ATP7A mutations, and we studied this family to better understand the natural history of this syndrome. In this article, we report for the first time the novel mutation in the ATP7A gene in a Chinese family. In our case, he suffers from simian line, developmental delay, epilepsy, hair changes (short, thin, thick, twisted, often light-coloured), decreased muscle tone, joint relaxation, brain vessel distortion, low serum copper, ceruloplasmin, elevated lactate and an abnormal EEG. Because of its rarity, MD is easily to be misdiagnosed.

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