Journal of Neurodevelopmental Disorders最新文献

{"title":"Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype.","authors":"Gregor Domes, Marie-Anne Croyé, Petra Freilinger, Andreas Bohlscheid, Winfried A Willinek, Jobst Meyer","doi":"10.1186/s11689-025-09608-6","DOIUrl":"10.1186/s11689-025-09608-6","url":null,"abstract":"<p><strong>Background: </strong>Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing.</p><p><strong>Methods: </strong>Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans.</p><p><strong>Results: </strong>Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions.</p><p><strong>Conclusion: </strong>The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"18"},"PeriodicalIF":4.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11959852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764022","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":"Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder.","authors":"Serena B Gumusoglu, Brandon M Schickling, Donna A Santillan, Lynn M Teesch, Mark K Santillan","doi":"10.1186/s11689-025-09601-z","DOIUrl":"10.1186/s11689-025-09601-z","url":null,"abstract":"<p><strong>Background: </strong>Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD.</p><p><strong>Methods: </strong>Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst).</p><p><strong>Results: </strong>We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction.</p><p><strong>Conclusions: </strong>Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"16"},"PeriodicalIF":4.1,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742185","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":"Verbal narrative ability and episodic autobiographical memory in adolescents and young adults with 22q11.2 deletion syndrome.","authors":"Claire Mayor, Julie Husmann, Selma Benaghmouch, Stephan Eliez, Clémence Feller, Maude Schneider","doi":"10.1186/s11689-025-09606-8","DOIUrl":"10.1186/s11689-025-09606-8","url":null,"abstract":"<p><strong>Background: </strong>Poor episodic autobiographical future thinking has recently been reported in 22q11.2 carriers. However, whether these impairments are due to poor language skills or indicate a true episodic autobiographical memory deficit remains unclear. Language impairments are the hallmark of the neuropsychological profile of young children with 22q11DS, but language outcomes in adolescence and young adulthood, especially high-level linguistic skills such as narrative, remain largely unexplored. The aims of this study are first to precisely characterize the narrative abilities of a group of adolescents and young adults with a 22q11DS and normal verbal intellectual functioning, in comparison to a control group. Second, to assess their (past) autobiographical episodic memory and their future episodic thinking abilities. Third, to examine the relationship between linguistic and autobiographical memory skills.</p><p><strong>Methods: </strong>Fifteen adolescents and young adults with 22q11DS were compared with 15 age- and sex-matched controls. Narrative ability was assessed with a storytelling task and included microstructural, macrostructural, and pragmatic linguistic measures. Episodic autobiographical memory was assessed using a paradigm involving recall of past personal memories and future thinking conditions.</p><p><strong>Results: </strong>Adolescents and young adults with 22q11DS still struggled with high-level language skills such as storytelling tasks, and all linguistic levels were impaired, i.e., the microstructural, macrostructural, and pragmatic components of narrative. Second, 22q11DS carriers showed poor episodic autobiographical recall of their personal memories and reduced access to sensory details (visual, auditory…) compared to controls. Their poor autobiographical episodic memory skills were independent of language impairment, and there were no effects of age or intellectual level on their autobiographical (past) memories recollection. On the other hand, age and verbal intellectual functioning significantly contributed to their ability to produce episodic narratives in the future thinking condition, suggesting that the future thinking task relies on more complex and intricate factors than pure episodic memory ability.</p><p><strong>Conclusions: </strong>Verbal narrative impairments did not account for poor recall of personal memories, suggesting dysfunctional episodic memory networks between hippocampi and posterior cortical areas in 22q11DS, where neuroanatomical and neurofunctional alterations have indeed been reported.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"17"},"PeriodicalIF":4.1,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742594","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":"Modifying quantitative sensory testing to investigate tactile sensory function and behavioral reactivity in children with intellectual and developmental disabilities: establishing feasibility and testing sex, autism, and self-injury effects.","authors":"Jaclyn Gunderson, Emma Worthley, Breanne Byiers, Alyssa Merbler, Andrea Huebner, Deanna Hofschulte, Jasmine Lee, Catherine Riodique, Frank Symons","doi":"10.1186/s11689-025-09603-x","DOIUrl":"10.1186/s11689-025-09603-x","url":null,"abstract":"<p><strong>Background: </strong>Sensory reactivity differences are common across neurodevelopmental disorders (NDDs), however very few studies specifically examine tactile or pain responses in children with NNDs, especially those with communication challenges. The current study aimed to (a) replicate the feasibility of a modified quantitative sensory test (mQST) with a sample of children with NDDs, (b) assess validity evidence based on behavioral reactivity during mQST application and the corresponding behavioral measurement coding system, and (c) explore group differences in behavioral reactivity to mQST stimuli by demographic (sex), clinical (autism status), and behavioral pathology (self-injury) variables.</p><p><strong>Methods: </strong>The mQST protocol was implemented and blindly coded across 47 participants aged 2-12 years (M age = 6.7 years, SD = 2.6; 70% male) with NDDs. Feasibility was measured by completion of the mQST protocol and interobserver agreement. Validity was assessed using paired t-tests investigating differences between behavioral reactivity to active stimuli compared to a sham trial. Boxplots were used to visually explore differences in group characteristics (sex, autism status, and self-injurious behavior), with two-sample t-tests used to further characterize differences in SIB group characteristics in behavioral reactivity to mQST stimuli.</p><p><strong>Results: </strong>The mQST provided codable data across 91% of stimuli applications with high IOA (84.7% [76.7-95%]). Behavioral reactivity was significantly higher for active vs. sham stimuli. Children reported to engage in self-injurious behavior showed significantly more reactivity to the second half of the repeated von Frey stimulus application compared to children without caregiver-reported self-injurious behavior (M = 6.14, SD = 3.44), t (40)= -2.247, p =.04).</p><p><strong>Conclusion: </strong>The mQST is a feasible approach to investigate tactile reactivity in children with NDDs and complex communication needs. The mQST may be useful in understanding sensory variables in relation to developmental and behavioral outcomes such as self-injurious behavior.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"15"},"PeriodicalIF":4.1,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730314","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":"Pubertal developmental, body mass index, and cardiovascular autonomic function in children and adolescents with and without autism spectrum disorder: a four-time point accelerated longitudinal study.","authors":"Rachael A Muscatello, Meredith Cola, Simon Vandekar, Blythe A Corbett","doi":"10.1186/s11689-025-09602-y","DOIUrl":"10.1186/s11689-025-09602-y","url":null,"abstract":"<p><strong>Background: </strong>The Autonomic Nervous System (ANS) regulates 'automatic' functions such as heart rate, and alterations may have significant impacts on health outcomes. Cardiovascular measures of autonomic function such as heart rate variability are of interest as biological markers in autism spectrum disorder (ASD). The interplay between the ANS and physical health establishes a need to examine cardiovascular autonomic functioning in youth with and without ASD over development. The current study aimed to identify change in autonomic function and balance across the parasympathetic and sympathetic branches over time as a function of diagnosis, age, pubertal development, and physical health status.</p><p><strong>Methods: </strong>The study included 244 ASD (N = 140) or neurotypical (NT) (N = 104) youth, ages 10 to 13 years at enrollment and followed over four years. Resting state autonomic functioning was measured using respiratory sinus arrhythmia (RSA; parasympathetic) and pre-ejection period (PEP; sympathetic). Autonomic balance and regulation were also examined as outcomes. Linear mixed models tested between- and within-group differences in the primary autonomic outcomes as well as the influence of pubertal development, body weight, and medication use.</p><p><strong>Results: </strong>Baseline models showed diagnostic differences, with lower parasympathetic regulation, in youth with ASD, but no differences were observed for the other three outcomes. Adding body mass index (BMI) percentile and medication use removed the statistically significant diagnostic effect, while both variables were significantly related to lower RSA and overall autonomic regulation. Parasympathetic function (RSA) was stable over age and pubertal stage, while a notable decrease in sympathetic control (increased PEP) was found for age and pubertal stage. BMI percentile at enrollment significantly predicted autonomic function, while change in BMI over time did not.</p><p><strong>Conclusions: </strong>Minimal research to date has explored physical health (e.g., BMI) and autonomic outcomes in ASD. The current study observed few group differences yet demonstrates important effects of physical health on ANS function in both ASD and neurotypical youth. Findings further emphasize a need to focus on individual traits such as BMI and medication use to elucidate the extent to which autonomic differences are related to health status, irrespective of diagnostic category, across the lifespan.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"14"},"PeriodicalIF":4.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663800","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":"Integrating parent report, observed behavior, and physiological measures to identify biomarkers of sensory over-responsivity in autism.","authors":"Apurva Chaturvedi, Sapna Ramappa, Ariana Anderson, Megan Banchik, Urvi Shah, Michelle Craske, Shulamite Green","doi":"10.1186/s11689-025-09597-6","DOIUrl":"10.1186/s11689-025-09597-6","url":null,"abstract":"<p><strong>Background: </strong>Sensory over-responsivity (SOR) is a heightened reaction to environmental stimuli commonly seen in autism spectrum disorder (ASD) which impacts daily functioning. Parent-reported and observed behavioral assessments are used to study SOR, but show limited associations with each other, possibly because they measure different aspects of SOR or because children inhibit their responses during standardized assessments. Physiological measures provide an objective measure of sensory reactivity, and atypical heart rate (HR) responses to aversive stimuli have been shown to be related to SOR in ASD youth. This study aimed to compare how reported and observed measures of SOR predict HR and to examine if the level of reported behavioral inhibition in ASD youth affects how observed SOR behaviors correlate with physiological reactivity.</p><p><strong>Methods: </strong>Participants were 54 typically developing (TD) and 83 ASD youth, ages 8-17, who completed a standardized behavioral assessment of SOR while electrocardiogram recordings were collected. Participants' parents also reported on their child's SOR symptoms and behavioral inhibition.</p><p><strong>Results: </strong>ASD youth showed lower inter-beat-intervals (IBI; higher HR) across all auditory and tactile stimuli. For ASD youth, parent-reported SOR interacted with observed SOR to predict HR changes across the stimulation periods, indicating that ASD participants whose parents reported they had high SOR in their daily life, and showed high observed SOR in the lab assessment, exhibited reduced HR deceleration (orienting) after the onset of the stimulus and subsequent increased HR acceleration. Finally, we found that ASD participants who had lower parent-reported behavioral inhibition had a stronger correlation between observed SOR behavior and atypical HR responses.</p><p><strong>Conclusions: </strong>Results support prior findings that increased HR responses to aversive stimuli is related to both ASD and SOR. Furthermore, observed and parent-reported SOR interacted to predict HR, suggesting that a multi-method approach may best capture the extent of SOR for an individual. However, observed SOR measures may be most accurate for ASD youth who are less likely to inhibit their behavioral responses. This study illustrates the importance of integrating multiple measures of sensory reactivity to identify SOR. HR measures of sensory reactivity have the potential to serve as a biomarker of SOR across a diverse range of individuals.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"13"},"PeriodicalIF":4.1,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11912601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649347","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":"Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1.","authors":"Jannath Begum-Ali, Luke Mason, Tony Charman, Mark H Johnson, Jonathan Green, Shruti Garg, Emily J H Jones","doi":"10.1186/s11689-025-09599-4","DOIUrl":"10.1186/s11689-025-09599-4","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis Type 1 is a genetic condition diagnosed in infancy that substantially increases the likelihood of a child experiencing cognitive and developmental difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). Children with NF1 show clear differences in attention, but whether these differences emerge in early development and how they relate to broader difficulties with cognitive and learning skills is unclear. To address this question requires longitudinal prospective studies from infancy, where the relation between domains of visual attention (including exogenous and endogenous shifting) and cognitive development can be mapped over time.</p><p><strong>Methods: </strong>We report data from 28 infants with NF1 tested longitudinally at 5, 10 and 14 months compared to cohorts of 29 typical likelihood infants (with no history of NF1 or ASD and/or ADHD), and 123 infants with a family history of ASD and/or ADHD. We used an eyetracking battery to measure both exogenous and endogenous control of visual attention.</p><p><strong>Results: </strong>Infants with NF1 demonstrated intact social orienting, but slower development of endogenous visual foraging. This slower development presented as prolonged engagement with a salient stimulus in a static display relative to typically developing infants. In terms of exogenous attention shifting, NF1 infants showed faster saccadic reaction times than typical likelihood infants. However, the NF1 group demonstrated a slower developmental improvement from 5 to 14 months of age. Individual differences in foraging and saccade times were concurrently related to visual reception abilities within the full infant cohort (NF1, typical likelihood and those with a family history of ASD/ADHD).</p><p><strong>Conclusions: </strong>Our results provide preliminary evidence that alterations in saccadic reaction time and visual foraging may contribute to learning difficulties in infants with NF1.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"12"},"PeriodicalIF":4.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634302","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":"Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study.","authors":"Xinyi Hong, Cristan Farmer, Nataliia Kozhemiako, Gregory L Holmes, Lauren Thompson, Stacy Manwaring, Audrey Thurm, Ashura Buckley","doi":"10.1186/s11689-024-09586-1","DOIUrl":"10.1186/s11689-024-09586-1","url":null,"abstract":"<p><strong>Background: </strong>Changes in brain connectivity during development are thought to reflect organizational and maturational processes that correspond to skill acquisition in domains like motor, language, and cognition. This theory is supported by findings in typically developing children as well as observations of abnormal connectivity among children with neurodevelopmental differences. However, few coherence studies have capitalized on the potential of sleep electroencephalogram (EEG) to examine the developing brain, especially among very young children for whom formal neurodevelopmental diagnosis is not yet possible. Sleep microarchitecture in young children may offer key insights into neurophysiological abnormalities associated with neurodevelopmental trajectories and potentially aid in early detection and intervention. In this study, we explored sleep EEG coherence and sleep spindles in typically developing toddlers and toddlers at increased risk of later neurodevelopmental diagnoses.</p><p><strong>Methods: </strong>We investigated EEG coherence and sleep spindles in 16 toddlers with receptive and expressive language delay (LangD) and 39 typically developing (TD) toddlers. Participants were aged 12-22 months at baseline, and 34 (LangD, n=11; TD, n=23) participants were evaluated again at 36 months of age.</p><p><strong>Results: </strong>Average EEG coherence was stronger in the LangD group than the TD group, with differences most prominent during slow-wave sleep. Some age-related increases in coherence were observed, but these did not differ between groups. Sleep spindle density, duration, and frequency changed between baseline and follow-up for both groups, with the LangD group demonstrating a smaller magnitude of change than the TD group. The direction of change was frequency band-dependent for both groups.</p><p><strong>Conclusions: </strong>These findings indicate that atypical sleep EEG connectivity and sleep spindle development can be detected in toddlers at risk of later neurodevelopmental diagnoses.</p><p><strong>Trial registration: </strong>https://clinicaltrials.gov/study/NCT01339767 ; Registration date: 4/20/2011.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"11"},"PeriodicalIF":4.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11847392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476583","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":"DNA methylation biomarkers of intellectual/developmental disability across the lifespan.","authors":"Janine M LaSalle","doi":"10.1186/s11689-025-09598-5","DOIUrl":"10.1186/s11689-025-09598-5","url":null,"abstract":"<p><p>Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"10"},"PeriodicalIF":4.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458269","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":"Atypical audio-visual neural synchrony and speech processing in early autism.","authors":"Xiaoyue Wang, Sophie Bouton, Nada Kojovic, Anne-Lise Giraud, Marie Schaer","doi":"10.1186/s11689-025-09593-w","DOIUrl":"10.1186/s11689-025-09593-w","url":null,"abstract":"<p><strong>Background: </strong>Children with Autism Spectrum disorder (ASD) often exhibit communication difficulties that may stem from basic auditory temporal integration impairment but also be aggravated by an audio-visual integration deficit, resulting in a lack of interest in face-to-face communication. This study addresses whether speech processing anomalies in young autistic children (mean age 3.09-year-old) are associated with alterations of audio-visual temporal integration.</p><p><strong>Methods: </strong>We used high-density electroencephalography (HD-EEG) and eye tracking to record brain activity and gaze patterns in 31 children with ASD (6 females) and 33 typically developing (TD) children (11 females), while they watched cartoon videos. Neural responses to temporal audio-visual stimuli were analyzed using Temporal Response Functions model and phase analyses for audiovisual temporal coordination.</p><p><strong>Results: </strong>The reconstructability of speech signals from auditory responses was reduced in children with ASD compared to TD, but despite more restricted gaze patterns in ASD it was similar for visual responses in both groups. Speech reception was most strongly affected when visual speech information was also present, an interference that was not seen in TD children. These differences were associated with a broader phase angle distribution (exceeding pi/2) in the EEG theta range in children with ASD, signaling reduced reliability of audio-visual temporal alignment.</p><p><strong>Conclusion: </strong>These findings show that speech processing anomalies in ASD do not stand alone and that they are associated already at a very early development stage with audio-visual imbalance with poor auditory response encoding and disrupted audio-visual temporal coordination.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"9"},"PeriodicalIF":4.1,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11837391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449382","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}