Journal of Neurodevelopmental Disorders最新文献

{"title":"Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales","authors":"Sabrina Horvath, Sudha Arunachalam","doi":"10.1186/s11689-023-09512-x","DOIUrl":"https://doi.org/10.1186/s11689-023-09512-x","url":null,"abstract":"Using eye-tracking, we assessed the receptive verb vocabularies of age-matched late talkers and typically developing children (experiment 1) and autistic preschoolers (experiment 2). We evaluated how many verbs participants knew and how quickly they processed the linguistic prompt. Our goal is to explore how these eye-gaze measures can be operationalized to capture verb knowledge in late talkers and autistic children. Participants previewed two dynamic scenes side-by-side (e.g., “stretching” and “clapping”) and were then prompted to find the target verb's referent. Children’s eye-gaze behaviors were operationalized using established approaches in the field with modifications in consideration for the type of stimuli (dynamic scenes versus static images) and the populations included. Accuracy was calculated as a proportion of time spent looking to the target, and linguistic processing was operationalized as latency of children’s first look to the target. In experiment 1, there were no group differences in the proportion of verbs known, but late talkers required longer to demonstrate their knowledge than typically developing children. Latency was predicted by age but not language abilities. In experiment 2, autistic children’s accuracy and latency were both predicted by receptive language abilities. Eye gaze can be used to assess receptive verb vocabulary in a variety of populations, but in operationalizing gaze behavior, we must account for between- and within-group differences. Bootstrapped cluster-permutation analysis is one way to create individualized measures of children’s gaze behavior, but more research is warranted using an individual differences approach with this type of analysis.","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"37 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138579098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association between cardiovascular health and cognition in adults with Down syndrome.","authors":"Lauren Frank, Brian Helsel, Danica Dodd, Amy E Bodde, Jessica C Danon, Joseph R Sherman, Daniel E Forsha, Amanda Szabo-Reed, Richard A Washburn, Joseph E Donnelly, Lauren T Ptomey","doi":"10.1186/s11689-023-09510-z","DOIUrl":"10.1186/s11689-023-09510-z","url":null,"abstract":"<p><strong>Introduction: </strong>Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical activity (MVPA), cardiorespiratory fitness, and systolic blood pressure are associated with cognitive function. Studies supporting these associations in adults with Down syndrome (DS) are limited. The purpose of this study was to examine the associations between systolic blood pressure, cardiorespiratory fitness, and MVPA on cognition in adults with DS.</p><p><strong>Methods: </strong>This is a cross-sectional analysis using baseline data from a trial in adults with DS. Participants attended a laboratory visit where resting blood pressure, cardiorespiratory fitness (VO_{2 Peak}), and cognitive function (CANTAB® DS Battery) were obtained. The cognitive battery included tests measuring multitasking, episodic memory, and reaction time. Physical activity (accelerometer) was collected over the week following the laboratory visit. Pearson correlations and linear regressions were used to measure the impact of systolic blood pressure, cardiorespiratory fitness, and MVPA on cognitive outcomes.</p><p><strong>Results: </strong>Complete data was available for 72 adults with DS (26.8 ± 9.3 years of age, 57% female). At baseline, VO_{2 Peak} (21.1 ± 4.2 ml/kg/min) and MVPA were low (14.4 ± 14.4 min/day), and systolic blood pressure was 118.3 ± 13.3 mmHg. VO_{2 Peak} was correlated with simple movement time (rho =  - 0.28, p = 0.03) but was not significant using a linear regression controlling for age and sex. Systolic blood pressure was significantly associated with episodic memory (first attempt memory score: β =  - 0.11, p = 0.002; total errors: β = 0.58, p = 0.001) and reaction time (five-choice movement time: β = 4.11, p = 0.03; simple movement time: β = 6.14, p = 0.005) using age- and sex-adjusted linear regressions. No associations were observed between MVPA and multitasking, episodic memory, or reaction time.</p><p><strong>Conclusion: </strong>Predictors of cardiovascular health, including cardiorespiratory fitness and systolic blood pressure, were associated with some aspects of cognition in adults with DS. While future research should examine the role of improved cardiovascular health on delaying decreases in cognitive function and dementia in adults with DS, we recommend that health care providers convey the importance of exercise and cardiovascular health to their patients with DS.</p><p><strong>Trial registration: </strong>NCT04048759, registered on August 7, 2019.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"43"},"PeriodicalIF":4.9,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10699046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138498651","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":"The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis.","authors":"L A Jenner, E K Farran, A Welham, C Jones, J Moss","doi":"10.1186/s11689-023-09506-9","DOIUrl":"10.1186/s11689-023-09506-9","url":null,"abstract":"<p><strong>Background: </strong>Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition-indicating associations between visual social attention and autism characteristics. The present systematic review synthesised research which has used eye-tracking technology to study social cognition in ID. A meta-analysis was used to explore whether visual attention on socially salient regions (SSRs) of stimuli during these tasks correlated with degree of autism characteristics presented on clinical assessment tools.</p><p><strong>Method: </strong>Searches were conducted using four databases, research mailing lists, and citation tracking. Following in-depth screening and exclusion of studies with low methodological quality, 49 articles were included in the review. A correlational meta-analysis was run on Pearson's r values obtained from twelve studies, reporting the relationship between visual attention on SSRs and autism characteristics.</p><p><strong>Results and conclusions: </strong>Eye-tracking technology was used to measure different social-cognitive abilities across a range of syndromic and non-syndromic ID groups. Restricted scan paths and eye-region avoidance appeared to impact people's ability to make explicit inferences about mental states and social cues. Readiness to attend to social stimuli also varied depending on social content and degree of familiarity. A meta-analysis using a random effects model revealed a significant negative correlation (r = -.28, [95% CI -.47, -.08]) between visual attention on SSRs and autism characteristics across ID groups. Together, these findings highlight how eye-tracking can be used as an accessible tool to measure more subtle social-cognitive processes, which appear to reflect variability in observable behaviour. Further research is needed to be able to explore additional covariates (e.g. ID severity, ADHD, anxiety) which may be related to visual attention on SSRs, to different degrees within syndromic and non-syndromic ID groups, in order to determine the specificity of the association with autism characteristics.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"42"},"PeriodicalIF":4.9,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138477881","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":"Endophenotype trait domains for advancing gene discovery in autism spectrum disorder.","authors":"Matthew W Mosconi, Cassandra J Stevens, Kathryn E Unruh, Robin Shafer, Jed T Elison","doi":"10.1186/s11689-023-09511-y","DOIUrl":"10.1186/s11689-023-09511-y","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihood for a particular clinical condition and leveraged the study of these traits to map polygenic mechanisms and advance more personalized therapeutic strategies for complex diseases. Endophenotypes represent a distinct class of biomarkers useful for understanding genetic contributions to psychiatric and developmental disorders because they are embedded within the causal chain between genotype and clinical phenotype, and they are more proximal to the action of the gene(s) than behavioral traits. Despite their demonstrated power for guiding new understanding of complex genetic structures of clinical conditions, few endophenotypes associated with ASD have been identified and integrated into family genetic studies. In this review, we argue that advancing knowledge of the complex pathogenic processes that contribute to ASD can be accelerated by refocusing attention toward identifying endophenotypic traits reflective of inherited mechanisms. This pivot requires renewed emphasis on study designs with measurement of familial co-variation including infant sibling studies, family trio and quad designs, and analysis of monozygotic and dizygotic twin concordance for select trait dimensions. We also emphasize that clarification of endophenotypic traits necessarily will involve integration of transdiagnostic approaches as candidate traits likely reflect liability for multiple clinical conditions and often are agnostic to diagnostic boundaries. Multiple candidate endophenotypes associated with ASD likelihood are described, and we propose a new focus on the analysis of \"endophenotype trait domains\" (ETDs), or traits measured across multiple levels (e.g., molecular, cellular, neural system, neuropsychological) along the causal pathway from genes to behavior. To inform our central argument for research efforts toward ETD discovery, we first provide a brief review of the concept of endophenotypes and their application to psychiatry. Next, we highlight key criteria for determining the value of candidate endophenotypes, including unique considerations for the study of ASD. Descriptions of different study designs for assessing endophenotypes in ASD research then are offered, including analysis of how select patterns of results may help prioritize candidate traits in future research. We also present multiple candidate ETDs that collectively cover a breadt","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"41"},"PeriodicalIF":4.1,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138295352","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":"Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task.","authors":"Valeria C Caruso, Amanda Hampton Wray, Erica Lescht, Soo-Eun Chang","doi":"10.1186/s11689-023-09507-8","DOIUrl":"10.1186/s11689-023-09507-8","url":null,"abstract":"<p><strong>Background: </strong>Neural motor control rests on the dynamic interaction of cortical and subcortical regions, which is reflected in the modulation of oscillatory activity and connectivity in multiple frequency bands. Motor control is thought to be compromised in developmental stuttering, particularly involving circuits in the left hemisphere that support speech, movement initiation, and timing control. However, to date, evidence comes from adult studies, with a limited understanding of motor processes in childhood, closer to the onset of stuttering.</p><p><strong>Methods: </strong>We investigated the neural control of movement initiation in children who stutter and children who do not stutter by evaluating transient changes in EEG oscillatory activity (power, phase locking to button press) and connectivity (phase synchronization) during a simple button press motor task. We compared temporal changes in these oscillatory dynamics between the left and right hemispheres and between children who stutter and children who do not stutter, using mixed-model analysis of variance.</p><p><strong>Results: </strong>We found reduced modulation of left hemisphere oscillatory power, phase locking to button press and phase connectivity in children who stutter compared to children who do not stutter, consistent with previous findings of dysfunction within the left sensorimotor circuits. Interhemispheric connectivity was weaker at lower frequencies (delta, theta) and stronger in the beta band in children who stutter than in children who do not stutter.</p><p><strong>Conclusions: </strong>Taken together, these findings indicate weaker engagement of the contralateral left motor network in children who stutter even during low-demand non-speech tasks, and suggest that the right hemisphere might be recruited to support sensorimotor processing in childhood stuttering. Differences in oscillatory dynamics occurred despite comparable task performance between groups, indicating that an altered balance of cortical activity might be a core aspect of stuttering, observable during normal motor behavior.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"40"},"PeriodicalIF":4.1,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10647051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107591538","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":"A mouse model of ATRX deficiency with cognitive deficits and autistic traits.","authors":"Katherine M Quesnel, Nicole Martin-Kenny, Nathalie G Bérubé","doi":"10.1186/s11689-023-09508-7","DOIUrl":"10.1186/s11689-023-09508-7","url":null,"abstract":"<p><strong>Background: </strong>ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating gene expression. Deficiencies in this protein cause ATR-X syndrome, a condition characterized by intellectual disability and an array of developmental abnormalities, including features of autism. Previous studies demonstrated that deleting ATRX in mouse forebrain excitatory neurons postnatally resulted in male-specific memory deficits, but no apparent autistic-like behaviours.</p><p><strong>Methods: </strong>We generated mice with an earlier embryonic deletion of ATRX in forebrain excitatory neurons and characterized their behaviour using a series of memory and autistic-related paradigms.</p><p><strong>Results: </strong>We found that mutant mice displayed a broader spectrum of impairments, including fear memory, decreased anxiety-like behaviour, hyperactivity, as well as self-injurious and repetitive grooming. Sex-specific alterations were also observed, including male-specific aggression, sensory gating impairments, and decreased social memory.</p><p><strong>Conclusions: </strong>Collectively, the findings indicate that early developmental abnormalities arising from ATRX deficiency in forebrain excitatory neurons contribute to the presentation of fear memory deficits as well as autistic-like behaviours.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"39"},"PeriodicalIF":4.9,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92154789","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":"Correction: The diagnostic journey of genetically defined neurodevelopmental disorders.","authors":"Juliana Simon, Carly Hyde, Vidya Saravanapandian, Rujuta Wilson, Benjamin Schneider, Charlotte Distefano, Aaron Besterman, Shafali Jeste","doi":"10.1186/s11689-023-09509-6","DOIUrl":"10.1186/s11689-023-09509-6","url":null,"abstract":"","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"38"},"PeriodicalIF":4.9,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89718661","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":"Age of diagnosis for children with chromosome 15q syndromes.","authors":"Anne C Wheeler, Marie G Gantz, Heidi Cope, Theresa V Strong, Jessica E Bohonowych, Amanda Moore, Vanessa Vogel-Farley","doi":"10.1186/s11689-023-09504-x","DOIUrl":"10.1186/s11689-023-09504-x","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]).</p><p><strong>Methods: </strong>Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences.</p><p><strong>Results: </strong>The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications.</p><p><strong>Conclusion: </strong>Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"37"},"PeriodicalIF":4.9,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482608","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 through midlife: trajectories of symptoms, behavioral functioning, and health.","authors":"Jinkuk Hong, Leann Smith DaWalt, Julie Lounds Taylor, Aasma Haider, Marsha Mailick","doi":"10.1186/s11689-023-09505-w","DOIUrl":"10.1186/s11689-023-09505-w","url":null,"abstract":"<p><strong>Background: </strong>This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22 years. Most studies tracking developmental trajectories have focused on autism during childhood, although adulthood is the longest stage of the life course. A robust understanding of how autistic people change through midlife and into older age has yet to be obtained.</p><p><strong>Methods: </strong>Using an accelerated longitudinal design with 9 waves of data, developmental trajectories were estimated from adolescence through midlife and into early old age in a community-based cohort (n = 406). The overall aim was to determine whether there were age-related increases or decreases, whether the change was linear or curvilinear, and whether these trajectories differed between those who have ID and those who have average or above-average intellectual functioning. Subsequently, the slopes of the trajectories were evaluated to determine if they differed depending on age when the study began, with the goal of identifying possible cohort effects.</p><p><strong>Results: </strong>There were significant trajectories of age-related change for all but one of the measures, although different measures manifested different patterns. Most autism symptoms improved through adulthood, while health worsened. An inverted U-shaped curve best described change for repetitive behavior symptoms, activities of daily living, maladaptive behaviors, and social interaction. For these measures, improved functioning was evident from adolescence until midlife. Then change leveled off, with worsening functioning from later midlife into early older age. Additionally, differences between autistic individuals with and without ID were evident. Although those who have ID had poorer levels of functioning, there were some indications that those without ID had accelerating challenges in their aging years that were not evident in those with ID - increases in medications for physical health problems and worsening repetitive behaviors.</p><p><strong>Conclusions: </strong>Meeting the needs of the increasingly large population of autistic adults in midlife and old age requires a nuanced understanding of life course trajectories across the long stretch of adulthood and across multiple domains. Given the heterogeneity of autism, it will be important not to generalize across sub-groups, for example those who are minimally verbal and those who have above-average intellectual functioning.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"36"},"PeriodicalIF":4.9,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71424349","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":"Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder.","authors":"Natalie K Boyd, Julia Nguyen, Mellad M Khoshnood, Timothy Jiang, Lina Nguyen, Lorena Mendez, Noemi A Spinazzi, Melanie A Manning, Michael S Rafii, Jonathan D Santoro","doi":"10.1186/s11689-023-09503-y","DOIUrl":"10.1186/s11689-023-09503-y","url":null,"abstract":"<p><strong>Background: </strong>Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls.</p><p><strong>Methods: </strong>A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient.</p><p><strong>Results: </strong>In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: -8.97 to -6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: -5.43 to -2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: -0.3849 to -0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: -5.02 to -1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: -6.22 to -1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: -2.45 to -0.63).</p><p><strong>Conclusions: </strong>Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"35"},"PeriodicalIF":4.9,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50161890","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}