Journal of Neurodevelopmental Disorders最新文献

{"title":"Objective diagnosis of attention-deficit/hyperactivity disorder by using load cell movement analysis under a smart chair in a simulated classroom: influence of sex and age.","authors":"Chen-Sen Ouyang, Rong-Ching Wu, Yi-Hung Chiu, Rei-Cheng Yang, Lung-Chang Lin","doi":"10.1186/s11689-025-09641-5","DOIUrl":"10.1186/s11689-025-09641-5","url":null,"abstract":"<p><strong>Background: </strong>Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children, typically characterized by persistent patterns of inattention or hyperactivity-impulsivity. Its diagnosis relies on criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and is primarily based on subjective observations and information provided by parents and teachers. Despite the availability of assessment tools such as the Swanson, Nolan, and Pelham questionnaire, diagnosing ADHD in children remains challenging. Such scales predominantly offer subjective insights into the disorder. Therefore, in this study, we developed an objective method that employs load cells for the objective diagnosis of ADHD.</p><p><strong>Methods: </strong>A simulated classroom environment was constructed to replicate a real-world setting. The setup included a desk, chair, and large screen. Load cells, which deform under applied force, were integrated into the four legs of the chair to capture movement data. This study involved 30 children with ADHD (14 boys and 16 girls; mean age: 8 years and 1 month ± 1 year and 10 months) and 30 age- and sex-matched children without ADHD (mean age: 8 years and 3 months ± 1 year and 10 months). Participants were instructed to sit on the chair and watch an age-appropriate educational video on mathematics. Movement data, captured through the load cells, were analyzed to calculate the average trajectory length (ATL) as a measure of activity. For participants with ADHD, SNAP-IV questionnaires were completed by parents and teachers.</p><p><strong>Results: </strong>The ATL values for the ADHD and non-ADHD groups were 0.0378 ± 0.0191 and 0.0157 ± 0.0119 (p < 0.0001), respectively. In the ADHD group, boys exhibited a higher ATL (0.0443 ± 0.0100) than girls (0.0303 ± 0.0228; p = 0.0432). The SNAP-IV scores assigned by parents and teachers for participants with ADHD were 33.14 ± 13.75 and 30.95 ± 14.32, respectively. Decision tree classifiers incorporating sex as a variable demonstrated robust performance, achieving an accuracy of 90.67%, sensitivity of 92.33%, specificity of 89.00%, and area under the curve of 91.06%.</p><p><strong>Conclusion: </strong>The smart chair equipped with load cells is an interesting development in progress tool for the objective diagnosis of ADHD and can aid clinical physicians in making decisions regarding ADHD evaluation.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"46"},"PeriodicalIF":4.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current situation and influencing factors of Chinese children's diagnosis delay in autism.","authors":"Feng-Lei Zhu, Yue Ji, Lu Wang, Min Xu, Xiao-Bing Zou","doi":"10.1186/s11689-025-09636-2","DOIUrl":"10.1186/s11689-025-09636-2","url":null,"abstract":"<p><strong>Background: </strong>Although experienced clinicians are capable of diagnosing autism in children before they reach the age of 2, the average age of diagnosis reported internationally is between 4 and 5 years, indicating a significant delay. This study aimed to determine the factors influencing the diagnostic delay time (DDT) in Chinese autistic children.</p><p><strong>Methods: </strong>We employed the Cox proportional hazard model to examine the effects of individual, family, sociodemographic, and healthcare system indicators on DDT in 480 Chinese autistic children (age range: 16.10-190.16 months; male-to-female ratio: 5.67:1) recruited from a tertiary hospital between 2021 and 2023.</p><p><strong>Results: </strong>The median DDT was 9.58 months (IQR = 15.01). Independent risk factors for delayed diagnosis included normal language competence (RR = 1.747, p < 0.001), non-core symptoms as first concerns (RR = 1.642, p = 0.013), school attendance (RR = 1.941, p < 0.001), irregular well-child visits (RR = 1.264, p = 0.028), and misdiagnosis history (RR = 0.648, p = 0.001).</p><p><strong>Conclusions: </strong>Diagnosis delay in Chinese autistic children is heterogeneous. Early monitoring for children with normal language skills and school-aged children, alongside improved healthcare system practices, is critical.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"47"},"PeriodicalIF":4.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes.","authors":"Jakub Szabó, Johan Filo, Rebeka Démuthová, Emese Renczés, Veronika Borbélyová, Daniela Ostatníková, Peter Celec","doi":"10.1186/s11689-025-09635-3","DOIUrl":"10.1186/s11689-025-09635-3","url":null,"abstract":"<p><strong>Background: </strong>High heritability (80-90%) of the autism spectrum disorder (ASD) and sex-biased incidence (3-4 times more boys than girls) suggest the roles of genetic predisposition and sex in the etiopathogenesis of the disorder. As ASD is commonly diagnosed in early childhood, most of the research is focused on children, yet animal research predominantly uses adult-aged animals. The effect of aging on the core and secondary ASD symptomatology is understudied, both in patients and animal models of ASD.</p><p><strong>Methods: </strong>To investigate the effect of aging on sociability, repetitive behavior, exploration, locomotor activity, anxiety-like behavior, and object-avoidance behavior, behavioral phenotyping was conducted in Shank3B^-/- (n = 67) and C57BL/6J wild-type (WT, n = 68) mice of both sexes (female n = 70, male n = 65) in adolescence (1-2 months of age, n = 42), adulthood (3-6 months of age, n = 40), and old age (12-18 months of age, n = 53).</p><p><strong>Results: </strong>Social deficits were observed only in old Shank3B^-/- males. Anxiety-like behavior peaked in adulthood with Shank3B^-/- mice roughly 20% more anxious than controls. Repetitive grooming and object-induced avoidance behavior were twice more prevalent in Shank3B^-/- mice consistently across the lifespan. Hypoactivity (20% less distance moved) and reduced exploration (30% less rearing behavior) were recorded in Shank3B^-/- mice and were more prevalent in female animals (30% less rearing behavior). Data were analyzed using the Three-way ANOVA (genotype, sex, age), followed by a posthoc Bonferroni correction to compare respective subgroups.</p><p><strong>Conclusions: </strong>Present study shows that aging affects ASD-like phenotype in the Shank3B-mutant mouse model, even though the effect size seems to be small. The mechanisms underlying these partially sex-specific effects should be the subject of further research with potential translational implications.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"45"},"PeriodicalIF":4.0,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pupil responses to social stimuli are associated with adaptive behaviors across the first 24 months of life.","authors":"Rebecca Grzadzinski, Raymond S Carpenter, Josh Rutsohn, Alapika Jatkar, Kattia Mata, Ambika Bhatt, Maria M Ortiz-Juza, Madison R Dennehey, Donna Gilleskie, Jed T Elison, Nicolas Pégard, Jose Rodriguez-Romaguera","doi":"10.1186/s11689-025-09628-2","DOIUrl":"10.1186/s11689-025-09628-2","url":null,"abstract":"<p><p>BACKGROUND: Pupil changes in response to well-controlled stimuli can be used to understand processes that regulate attention, learning, and arousal. This study investigates whether pupil dynamics to social stimuli are associated with concurrent adaptive behavior in typically developing infants. To accomplish this, we developed and assessed pupillary responses to Stimuli for Early Social Arousal and Motivation in Infants (SESAMI). METHODS: A sample of forty-six typically developing children aged six to twenty-four months were exposed to SESAMI. Infants were presented with either dynamic social faces or non-social stimuli that controlled for luminance, motion, and auditory exposure. A multi-level mixed effects model was used to fit pupillary response functions (PRFs) that measure the change in pupil size over time as the infants fixate on either a socially dynamic face or a non-social control. This model produces separate social and non-social PRFs for both the population and each individual. An average individual deviation score from the population PRF was calculated separately for social and non-social trials yielding the pupil response index (PRI). Vineland Adaptive Behavior Scales (VABS) were regressed on social and non-social individual PRIs while controlling for age and average fixation time. We tested whether the social PRI was a statistically significant predictor of adaptive behavior by comparing the model predicted VABS scores with observed scores. RESULTS: An increase in PRI to social stimuli was significantly associated with better adaptive behaviors in typically developing children between 6 and 24 months of age. CONCLUSIONS: SESAMI combined with pupillometry and multi-level mixed effects modeling, provides a novel and scalable framework for quantifying individual differences in pupil changes in response to social stimuli relative to a population-level baseline. By demonstrating that pupil response indices during social fixations predict adaptive behaviors, we lay the foundation to test how these measures may help identify infants with intellectual and developmental disorders. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"44"},"PeriodicalIF":3.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.","authors":"Nadia Y van Silfhout, Maud M van Muilekom, Clara D van Karnebeek, Joost G Daams, Lotte Haverman, Agnies M van Eeghen","doi":"10.1186/s11689-025-09633-5","DOIUrl":"10.1186/s11689-025-09633-5","url":null,"abstract":"<p><strong>Background: </strong>The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID.</p><p><strong>Methods: </strong>To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed.</p><p><strong>Results: </strong>In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms.</p><p><strong>Conclusion: </strong>This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"43"},"PeriodicalIF":4.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12312581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct early development trajectories in Nf1^± and Tsc2^± mouse models of autism.","authors":"Helena Ferreira, Sofia Santos, João Martins, Miguel Castelo-Branco, Joana Gonçalves","doi":"10.1186/s11689-025-09624-6","DOIUrl":"10.1186/s11689-025-09624-6","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, and repetitive behaviors. Males are three times more likely to be diagnosed with ASD than females, and sex-dependent alterations in behavior and communication have been reported both in clinical and animal research. Animal models are useful for understanding ASD-related manifestations and their associated neurobiological mechanisms. However, even though ASD is diagnosed during childhood, relatively few animal studies have focused on neonatal development.</p><p><strong>Methods: </strong>Here, we performed a detailed analysis of neonatal developmental milestones and maternal separation-induced ultrasonic vocalizations (USVs) in two genetic animal models of ASD, neurofibromatosis type 1 (Nf1^±) and tuberous sclerosis complex 2 (Tsc2^±).</p><p><strong>Results: </strong>Nf1^± and Tsc2^± mice display strikingly distinct developmental profiles regarding motor, strength, and coordination skills. Nf1^± mouse pups mostly show genotype-related differences, whereas Tsc2^± mouse pups mainly present sexual dimorphisms. Furthermore, we found several differences regarding the number of USVs, frequency modulation, and temporal and spectral profile. Importantly, Nf1^± animals tend to present sex- and genotype-dependent differences earlier than the Tsc2^± mouse pups, suggesting distinct developmental curves between these two animal models.</p><p><strong>Conclusions: </strong>This study provides a nuanced understanding of how these two ASD models differ in their developmental trajectories. It underscores the importance of studying sex differences and early-life developmental markers, as these could offer crucial insights into ASD's progression and neurobiology. The distinct profiles of these models may help guide more targeted therapeutic strategies in the future.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"42"},"PeriodicalIF":4.0,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12296589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome.","authors":"Marie-Anne Croyé, Petra Freilinger, Hendrik Jürgenlimke, Gregor Domes, Jobst Meyer","doi":"10.1186/s11689-025-09631-7","DOIUrl":"10.1186/s11689-025-09631-7","url":null,"abstract":"<p><strong>Background: </strong>Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls.</p><p><strong>Methods: </strong>A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables.</p><p><strong>Results: </strong>Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption.</p><p><strong>Conclusion: </strong>Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"41"},"PeriodicalIF":3.6,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds.","authors":"John R Pruett, Alexandre A Todorov, Zoë W Hawks, Muhamed Talovic, Tomoyuki Nishino, Steven E Petersen, Savannah Davis, Lyn Stahl, Kelly N Botteron, John N Constantino, Stephen R Dager, Jed T Elison, Annette M Estes, Alan C Evans, Guido Gerig, Jessica B Girault, Heather Hazlett, Leigh MacIntyre, Natasha Marrus, Robert C McKinstry, Juhi Pandey, Robert T Schultz, William D Shannon, Mark D Shen, Abraham Z Snyder, Martin Styner, Jason J Wolff, Lonnie Zwaigenbaum, Joseph Piven","doi":"10.1186/s11689-025-09621-9","DOIUrl":"10.1186/s11689-025-09621-9","url":null,"abstract":"<p><strong>Background: </strong>fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high (older affected sibling) and low familial likelihood for ASD.</p><p><strong>Methods: </strong>fcMRI comparisons of high-familial-likelihood (HL) ASD-positive (HLP, N = 23) and ASD-negative (HLN, N = 91), and low-likelihood ASD-negative (LLN, N = 27) 24-month-olds from the Infant Brain Imaging Study (IBIS) Network were conducted, employing object oriented data analysis (OODA), support vector machine (SVM) classification, and network-level fcMRI enrichment analyses.</p><p><strong>Results: </strong>OODA (alpha = 0.0167, 3 comparisons) revealed differences in HLP and LLN fcMRI matrices (p = 0.012), but none for HLP versus HLN (p = 0.047) nor HLN versus LLN (p = 0.225). SVM distinguished HLP from HLN (accuracy = 99%, PPV = 96%, NPV = 100%), based on connectivity involving many networks. SVM accurately classified (non-training) LLN subjects with 100% accuracy. Enrichment analyses identified a cross-group fcMRI difference in the posterior cingulate default mode network 1 (pcDMN1)- temporal default mode network (tDMN) pair (p = 0.0070). Functional connectivity for implicated connections in these networks was consistently lower in HLP and HLN than in LLN (p = 0.0461 and 0.0004). HLP did not differ from HLN (p = 0.2254). Secondary testing showed HL children with low ASD behaviors still differed from LLN (p = 0.0036).</p><p><strong>Conclusions: </strong>24-month-old high-familial-likelihood infants show reduced intra-DMN connectivity, a potential neural finding related to familial liability, while widely distributed functional connections correlate with ASD diagnosis.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"40"},"PeriodicalIF":3.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12275292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.","authors":"Zhen Liu, Mei He, Xuan Luo, Hu Pan, Juanli Hu, Zhengqing Wan, Yin Peng, Yixiao Luo, Hua Wang, Xiao Mao","doi":"10.1186/s11689-025-09632-6","DOIUrl":"10.1186/s11689-025-09632-6","url":null,"abstract":"<p><p>Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA, and metabolizing thyroid hormones, and are produced via complex pathways involving Sec-tRNA^[Ser]Sec, the SECIS element, and specific proteins such as eEFSec. This study investigates a 4-year-old girl with global developmental delay and cerebellar atrophy, revealing compound heterozygous variants in the EEFSEC gene (p.V488Dfs*113 and p.R443P) through extensive genetic analysis and whole exome sequencing. Both functional prediction tools and structural analysis underscored the detrimental impact of the p.R443P variant. Notably, the patient's plasma exhibited elevated levels of oxidized fatty acid metabolites compared to those in healthy controls, suggesting an impairment in antioxidant mechanisms. This case link a human disease directly to variants in the EEFSEC gene, emphasizing its vital role in cerebellar atrophy and the broader implications for genetic disorders related to defects in selenoprotein synthesis. The results highlight the significance of genetic screening for EEFSEC variants in similar cases, potentially broadening the spectrum of known genetic subtypes associated with selenoprotein translation abnormalities.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"39"},"PeriodicalIF":4.1,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Charting the future: current and future directions in translational research for individuals with Down syndrome.","authors":"Katherine A Waugh, Heather M Wilkins, Keith P Smith, Lauren T Ptomey","doi":"10.1186/s11689-025-09630-8","DOIUrl":"10.1186/s11689-025-09630-8","url":null,"abstract":"<p><p>The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypical morphogenesis, a distinct neurocognitive profile, and a unique spectrum of diverse medical conditions that impact every major organ system. How trisomy 21 results in the highly variable manifestations of Down syndrome remains largely unknown and an active area of heavy investigation with therapeutic implications. For example, common inflammatory and metabolic signatures have begun to emerge across various co-occurring conditions in Down syndrome with assorted impacts on diverse yet intertwined organ systems that could directly or indirectly impact brain health. Here, we review current progress, resources, knowledge gaps, and bottlenecks for precision medicine approaches to promote brain health across the lifespan among individuals with Down syndrome within the larger context of research efforts geared towards our other distinct yet intertwined organ systems. Within this framework, we advocate for interdisciplinary pursuit of systems-level biomarkers to facilitate holistic intervention strategies that precisely benefit individuals with trisomy 21 each experiencing Down syndrome in their own unique way. To this end, we quantitatively assess clinical studies that are actively recruiting participants with Down syndrome and provide historical context through summary figures sourced to user-friendly tables that have been curated from federal websites to empower efficient exploration of research opportunities for interdisciplinary collaborations.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"38"},"PeriodicalIF":4.1,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}