Journal of Neurodevelopmental Disorders最新文献

{"title":"Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models.","authors":"Levi Kaster, Ethan Hillis, Inez Y Oh, Bhooma R Aravamuthan, Virginia C Lanzotti, Casey R Vickstrom, Christina A Gurnett, Philip R O Payne, Aditi Gupta","doi":"10.1186/s11689-025-09612-w","DOIUrl":"https://doi.org/10.1186/s11689-025-09612-w","url":null,"abstract":"<p><strong>Background: </strong>Functional biomarkers in neurodevelopmental disorders, such as verbal and ambulatory abilities, are essential for clinical care and research activities. Treatment planning, intervention monitoring, and identifying comorbid conditions in individuals with intellectual and developmental disabilities (IDDs) rely on standardized assessments of these abilities. However, traditional assessments impose a burden on patients and providers, often leading to longitudinal inconsistencies and inequities due to evolving guidelines and associated time-cost. Therefore, this study aimed to develop an automated approach to classify verbal and ambulatory abilities from EHR data of IDD and cerebral palsy (CP) patients. Application of large language models (LLMs) to clinical notes, which are rich in longitudinal data, may provide a low-burden pipeline for extracting functional biomarkers efficiently and accurately.</p><p><strong>Methods: </strong>Data from the multi-institutional National Brain Gene Registry (BGR) and a CP clinic cohort were utilized, comprising 3,245 notes from 125 individuals and 5,462 clinical notes from 260 individuals, respectively. Employing three LLMs-GPT-3.5 Turbo, GPT-4 Turbo, and GPT-4 Omni-we provided the models with a clinical note and utilized a detailed conversational format to prompt the models to answer: \"Does the individual use any words?\" and \"Can the individual walk without aid?\" These responses were evaluated against ground-truth abilities, which were established using neurobehavioral assessments collected for each dataset.</p><p><strong>Results: </strong>LLM pipelines demonstrated high accuracy (weighted-F1 scores > .90) in predicting ambulatory ability for both cohorts, likely due to the consistent use of Gross Motor Functional Classification System (GMFCS) as a consistent ground-truth standard. However, verbal ability predictions were more accurate in the BGR cohort, likely due to higher adherence between the prompt and ground-truth assessment questions. While LLMs can be computationally expensive, analysis of our protocol affirmed the cost effectiveness when applied to select notes from the EHR.</p><p><strong>Conclusions: </strong>LLMs are effective at extracting functional biomarkers from EHR data and broadly generalizable across variable note-taking practices and institutions. Individual verbal and ambulatory ability were accurately extracted, supporting the method's ability to streamline workflows by offering automated, efficient data extraction for patient care and research. Future studies are needed to extend this methodology to additional populations and to demonstrate more granular functional data classification.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"24"},"PeriodicalIF":4.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014269","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":"Functional connectivity between the visual and salience networks and autistic social features at school-age.","authors":"Jessica B Girault, Tomoyuki Nishino, Muhamed Talović, Mary Beth Nebel, Margaret Reynolds, Catherine A Burrows, Jed T Elison, Chimei M Lee, Abraham Z Snyder, Mark D Shen, Audrey M Shen, Kelly N Botteron, Annette M Estes, Stephen R Dager, Guido Gerig, Heather C Hazlett, Natasha Marrus, Robert C McKinstry, Juhi Pandey, Robert T Schultz, Tanya St John, Martin A Styner, Lonnie Zwaigenbaum, Alexandre A Todorov, Joseph Piven, John R Pruett","doi":"10.1186/s11689-025-09613-9","DOIUrl":"https://doi.org/10.1186/s11689-025-09613-9","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD.</p><p><strong>Methods: </strong>Resting state functional connectivity MRIs (fcMRI) and behavioral data were analyzed from 97 school-age children (8.1-12.0 years, 55 males, 15 ASD) with (n = 63) or without (n = 34) a family history of ASD. fcMRI enrichment analysis (EA) was used to screen for associations between network-level functional connectivity and six behaviors of interest in a data-driven manner: social affect, restricted and repetitive behavior (RRB), generalized anxiety, inattention, motor coordination, and matrix reasoning.</p><p><strong>Results: </strong>Functional connectivity between the visual and salience networks was significantly associated with social affect symptoms at school-age after accounting for all other behaviors. Results indicated that stronger connectivity was associated with higher social affect scores. No other behaviors were robustly associated with functional connectivity, though trends were observed between visual-salience connectivity and RRBs.</p><p><strong>Conclusions: </strong>Connectivity between the visual and salience networks may play an important role in social affect symptom variability among children with ASD and those with genetic liability for ASD. These findings align with and extend earlier reports in this sample of the central role of the visual system during infancy in ASD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"23"},"PeriodicalIF":4.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12036130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012317","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":"Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome.","authors":"Grace Farmiloe, Veronika Bejczy, Elisabetta Tabolacci, Rob Willemsen, Frank Jacobs","doi":"10.1186/s11689-025-09609-5","DOIUrl":"https://doi.org/10.1186/s11689-025-09609-5","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5'UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30-55 CGG units in length. Once the CGG repeat exceeds 200 copies it triggers methylation at the locus. This methylation covers the FMR1 promoter region and silences expression of the gene and the production of FMRP (fragile X messenger ribonucleoprotein). The loss of FMRP is responsible for a number of pathologies including neurodevelopmental delay and autism spectrum disorder. Methylation of the expanded repeat in the FMR1 locus is the causal factor for FXS, however it is not known why the expanded repeat triggers this epigenetic change or how exactly DNA methylation is established. Intriguingly, genetic engineering of expanded CGG repeats of over 300 copies in the FMR1 locus in mice remains unmethylated. Also in humans, in very rare cases, individuals can have an FMR1 CGG expansion > 200 copies but the locus remains unmethylated. These unmethylated full mutation (UFM) individuals give us a rare opportunity to investigate the mechanism of FMR1 promoter methylation.</p><p><strong>Methods: </strong>Fibroblasts were obtained from a healthy control, an FXS patient and two unmethylated full expansion carriers. RNA was extracted and comparative transcriptomic analysis was performed on all samples. Whole genome sequencing was carried out on DNA from the two UFM carriers and the results analysed to investigate DNA variants that could explain the observed differences in gene expression.</p><p><strong>Results: </strong>Our analyses focused on genes involved in epigenetic modification. We show that Tet methylcytosine dioxygenase 3 (TET3), a gene involved in DNA methylation, is significantly downregulated in UFM carriers compared to healthy controls or FXS patient derived cells. Genomic analyses reveal a number of rare variants present in the TET3 locus in UFM carriers when compared to the reference genome. However, no clear modifying TET3 variants were identified.</p><p><strong>Conclusion: </strong>Our results suggest that TET3 is a candidate factor responsible for the lack of methylation of the expanded FMR1 locus. Further analyses are needed to further elucidate this relationship, however given its potential to directly interact with CGG repeats and its ambiguous role in 5-hydroxy-methylation of CG containing sequences, TET3 is a strong candidate for further exploration.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"22"},"PeriodicalIF":4.1,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12032669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029463","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":"Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.","authors":"Sophia Lenz, Ajilan Sivaloganathan, Sarah J Goodman, Cheryl Cytrynbaum, Jesiqua Rapley, Emma Canning, Danielle Baribeau","doi":"10.1186/s11689-025-09605-9","DOIUrl":"https://doi.org/10.1186/s11689-025-09605-9","url":null,"abstract":"<p><strong>Objective: </strong>Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of this study was to examine and compare behavioural profiles and longitudinal psychotropic treatment patterns in children with epigenetic/chromatin variants, other rare variants impacting neurodevelopment, or no known genetic condition.</p><p><strong>Methods: </strong>Using electronic medical records from a pediatric psychopharmacology program for children with autism or intellectual disability, we compared clinical characteristics, longitudinal psychotropic medication profiles and side effects between those with and without a rare genetic variant, and by variant subtype [epigenetic/chromatin regulation or other variant].</p><p><strong>Results: </strong>A total of 331 children attended 2724 unique medical visits between 2019 and 2022, with a mean of 8 follow-up visits over 3.4 years. Nine children (3%) had variants in epigenetic/chromatin regulatory genes (EC), twenty-three children (7%) had other rare genetic variants (OTH), and the rest had no reported variant (NR, n = 299, 90%). Those with a rare genetic variant (EC or OTH) were more likely to have an intellectual disability and had a greater number of co-occurring physical health conditions (p < 0.01). Overall, 66% of psychotropic medications were continued for ≥ 3 visits, while 26% were discontinued. Rates of psychotropic polypharmacy, medication patterns, behavioural challenges, and co-occurring developmental diagnoses were similar between genetic groups. Analyses uncorrected for multiple comparisons suggested those with genetic variants were more likely to experience drowsiness/sedation as a side effect (EC 33%, OTH 35%, NR 16%, p < 0.05); weight gain as a side effect was also higher in the epigenetic/chromatin group (EC 50% vs OTH 11%).</p><p><strong>Conclusion: </strong>Genetic classification of neurodevelopmental disorders (NDDs) may help anticipate treatment tolerability; additional prescribing considerations may be needed for those with rare variants. Current psychotropic prescribing practices do not differ across rare genetic NDD subgroups.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"21"},"PeriodicalIF":4.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015857","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":"Serotonin dysfunction in ADHD.","authors":"Eleanor F Jackson, Timothy B Riley, Paul G Overton","doi":"10.1186/s11689-025-09610-y","DOIUrl":"https://doi.org/10.1186/s11689-025-09610-y","url":null,"abstract":"<p><p>It is well accepted that attention deficit hyperactivity disorder (ADHD) is in part driven by dysfunction in the monoaminergic neurotransmitter system, but both the extent of dysfunction and possible therapeutic avenues presented by serotonergic neurotransmission is frequently overlooked. As such, we present key evidence for dysfunction in serotonergic transmission, as seen from biochemical, genetic and pharmacological perspectives. An overall deficit in serotonin availability is a common theme throughout the literature, thus this review aims to explore possible dysfunctions in the serotonin synthesis pathway which result in this reduced bioavailability, and investigate whether such dysfunctions could be loci of change in ADHD. We have identified several steps in transmission, namely the conversion of tryptophan to 5-hydroxytryptophan and its use of cofactor tetrahydrobiopterin, which could present promising avenues for development of novel clinical interventions for ADHD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"20"},"PeriodicalIF":4.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064029","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":"Behavioral and psychological symptoms of dementia and Alzheimer's disease progression in Down syndrome.","authors":"Melissa R Jenkins, Jamie C Peven, Lauren Kubic, Benjamin L Handen, Sharon J Krinsky-McHale, Christy L Hom, Alice Lee, Dana L Tudorascu, Max McLachlan, Matthew Zammit, Davneet Minhas, Weiquan Luo, Charles Laymon, Joseph H Lee, Ira Lott, Annie Cohen, Beau M Ances, H Diana Rosas, Florence Lai, Shahid H Zaman, Elizabeth Head, Mark Mapstone, Bradley T Christian, Sigan L Hartley","doi":"10.1186/s11689-025-09604-w","DOIUrl":"https://doi.org/10.1186/s11689-025-09604-w","url":null,"abstract":"<p><strong>Background: </strong>Adults with Down syndrome (DS) have a 90% lifetime risk for Alzheimer's disease (AD), with neurobiological pathology present decades prior to dementia onset. The profile and timing of cognitive decline in DS is well-documented. However, there is a small body of research on whether Behavioral and Psychological Symptoms of Dementia (BPSD) occur early on in the progression of AD in DS and are associated with early AD pathology (i.e., amyloid-beta [Aβ] and neurofibrillary tau tangles [NFT]).</p><p><strong>Methods: </strong>Data were analyzed from 337 adults with DS (M = 45.13 years, SD = 9.53 years) enrolled in a large cohort study. The Reiss Screen for Maladaptive Behavior (RSMB) measured common behaviors reported in BPSD across up to four study cycles (spaced approximately 16 months apart). Linear mixed models estimated change in BPSD as predicted by baseline (a) dementia status (i.e., cognitively stable, mild cognitive impairment [MCI], or dementia), (b) Aβ positron emission tomography (PET) tracer [¹¹C] PiB, and (c) NFT PET tracer [¹⁸F]AV-1451. Models controlled for chronological age, sex, study site, premorbid intellectual disability level, APOE e4 allele carrier status, psychiatric diagnoses, and psychiatric medication use.</p><p><strong>Results: </strong>Compared to cognitively stable participants, participants whose status was MCI or dementia, had significantly higher baseline RSMB subdomain scores. Increases in RSMB Depression-Behavioral, Depression-Physical, and Psychosis were observed for participants with MCI. Higher baseline Aβ and NFT were associated with higher RSMB Avoidant at baseline, and increases in RSMB Depression-Physical and Psychosis over time.</p><p><strong>Conclusions: </strong>BPSD are an important part of AD in DS, particularly during the prodromal stage. Elevated Aβ and NFT predict higher initial avoidance and change in physical depression behaviors and may indicate MCI in adults with DS. Broader increases in BPSD are observed as adults with DS progress from early to late-stage dementia. Clinicians should rule out other possible causes of BPSD when screening for AD, such as stressful life experiences or co-occurring medical conditions. Caregivers of adults with DS should have resources on BPSD management and self-care strategies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"19"},"PeriodicalIF":4.1,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030174","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 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}