Journal of Neurodevelopmental Disorders最新文献

{"title":"The effectiveness of transcranial electrical stimulation in individuals with specific learning disorder (SLD): systematic review and transfer analysis.","authors":"Vahid Nejati, Fateme Ghafuri, Katayoon Hosseini, Roozbeh Behroozmand","doi":"10.1186/s11689-025-09623-7","DOIUrl":"10.1186/s11689-025-09623-7","url":null,"abstract":"<p><p>This comprehensive review aimed to investigate the transferability of transcranial electrical Stimulation (tES) interventions in individuals with specific learning disabilities (SLD) based on the FIELD model, encompassing function, implements, ecology, level, and durability. A systematic search of electronic databases yielded a total of 13 eligible studies, 11 transcranial direct current stimulation (tDCS), 1 transcranial random noise stimulation (tRNS), and 1 transcranial alternating current stimulation (tACS), encompass 286 individuals with SLD, for inclusion. The overall effect size analysis revealed positive transfer effects in all domains of FIELD, indicating the potential effectiveness of non-invasive brain stimulations (NIBS) interventions in enhancing various aspects of learning and behavior in individuals with SLD. The subgroup analysis further underscored the positive impact of age, dose, and concurrent intervention on transferability. In conclusion, this study contributes valuable insights into the transferability of tES interventions and holds promise for improving learning and behavioral outcomes in individuals with SLD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"66"},"PeriodicalIF":4.0,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12587531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145452292","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":"Development of the Angelman syndrome video assessment: quantifying meaningful change.","authors":"Kriszha A Sheehy, Mindy G Leffler, Rebecca J Woods, Robert Komorowski, Rebecca Crean, Christina K Zigler, Jessica Duis, Olivia Boorom, Nancy Brady, Lauren DeValk, Nicole Harris, Amber Sapp, Caroline Woeber, Anjali Sadhwani, Wen-Hann Tan","doi":"10.1186/s11689-025-09655-z","DOIUrl":"10.1186/s11689-025-09655-z","url":null,"abstract":"<p><strong>Background: </strong>The Angelman Syndrome Video Assessment (ASVA) is a clinician-reported outcome measure that was developed to assess the functional ability of individuals with Angelman Syndrome (AS) in a familiar environment. Through standardized tasks and associated scorecards, clinicians assess four meaningful domains of functioning: communication, activities of daily living (ADLs, which include fine motor skills), gross motor, and external direction (i.e., the ability to follow directions) via scorecards with pre-established criteria. The aim of this project was to develop and refine the scorecards using a rigorous process in partnership with caregivers, clinicians, and researchers in the AS community.</p><p><strong>Methods: </strong>The Scorecard development process included four phases: (1) video source material study, (2) identification of initial scoring criteria, (3) scorecard drafts, and (4) two (Caregiver and Clinician panel and PT panel) two-round modified Delphi processes to reach consensus. All phases were conducted remotely except for Round 2 of the Caregiver and Clinician Delphi Panel, which was conducted in person. Votes were held for each scoring criterion and consensus was defined as ≥ 70% agreement.</p><p><strong>Results: </strong>In the communication, ADLs, and external direction domains, scorecard criteria reached 80 to 100% agreement among caregivers (n = 8) and clinicians (n = 2), resulting in a total of 218 scoring criteria and levels across 10 tasks. In the gross motor domain, scorecard criteria reached 100% agreement among physical therapists (n = 8) with a total of 347 scoring criteria and levels across 8 tasks.</p><p><strong>Conclusions: </strong>The ASVA was developed with insights from the AS community, including caregivers of individuals with AS, clinicians, and researchers. The ASVA is a novel, disease-specific, clinician-reported outcome measure that uses standardized video capture and scorecards that were developed through a rigorous process, resulting in well-developed criteria to quantify meaningful changes of function in individuals with AS in communication, ADLs, gross motor function, and external direction.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"65"},"PeriodicalIF":4.0,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12581235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145438351","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":"Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.","authors":"Elise Brimble, Pam Ventola, Elizabeth Blomenberg, Kelsey Frahlich, Kopika Kuhathaas, Christopher E Hart, Nadia Bahi-Buisson, Heather E Olson, Eric D Marsh, Gai Ayalon","doi":"10.1186/s11689-025-09653-1","DOIUrl":"10.1186/s11689-025-09653-1","url":null,"abstract":"<p><p>BACKGROUND: FOXG1 syndrome is a severe genetic neurodevelopmental disorder characterized by intellectual and developmental disabilities (IDD), postnatal microcephaly, epilepsy, and movement disorder. With the advent of molecular therapies, establishing the natural history of FOXG1 syndrome is critical to enable clinical trial readiness. However, traditional study designs are challenging to implement for rare disorders without significant burden to participants. METHODS: The study population included 101 children and adults with (likely) pathogenic variants in or involving FOXG1 (ages 0.4 - 34.8 years). Participant medical records underwent systematic annotation and harmonization of recorded clinical phenotypes, interventions, and outcomes through use of a patient-centric real-world data (RWD) platform. Retrospective medical record data were paired with prospective administration of validated measures of development and behavior, including the Vineland-3, the Aberrant Behavior Checklist, and the Children’s Sleep Habits Questionnaire. Descriptive and inferential statistics were employed to characterize longitudinal phenotypes and to explore genotype-phenotype correlations. RESULTS: Through systematic evaluation of 101 people with FOXG1 syndrome, we generated a robust dataset encompassing >40,000 annotated clinical terminology concepts that represent >770 cumulative patient data years. Core clinical phenotypes include IDD, gastrointestinal disorders, strabismus, epilepsy, movement disorders, and sleep problems. The FOXG1 syndrome behavioral phenotype is characterized by irritability, including aggressive behaviors, stereotypies, social withdrawal, and lethargy; in those with missense variants, features of autism spectrum disorders are also reported. Data derived from both medical records and validated measures confirm and expand upon previously described genotype-phenotype correlations, whereby truncating variants are associated with greater limitations across motor and communication domains, as well as increased frequency of core FOXG1 syndrome phenotypes. Further, individuals with truncating variants had higher scores on a composite measure of FOXG1 syndrome severity, which persists when modeled longitudinally. Employing the same composite measure, we demonstrate that FOXG1 syndrome is a static encephalopathy without evidence of neurodegeneration. CONCLUSIONS: By combining retrospective RWD with prospective survey administration in a large sample population, we establish the natural history of FOXG1 syndrome and highlight candidate clinical endpoints for use in clinical trials, including quantitative evaluations of communication and movement disorders. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"64"},"PeriodicalIF":3.6,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12551263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145368122","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 patterns differ as a function of co-occurring attentional problems in preschoolers with autism.","authors":"Alex Boxberger, Bosi Chen, Lindsay Olson, Michaela Cordova, Judy Mahmalji, Adriana Rios, Annika C Linke, Inna Fishman","doi":"10.1186/s11689-025-09650-4","DOIUrl":"10.1186/s11689-025-09650-4","url":null,"abstract":"<p><strong>Background: </strong>Symptoms of attention-deficit/hyperactivity disorder (ADHD) are common in children with autism spectrum disorder (ASD), and are associated with greater developmental challenges, poorer clinical outcomes, and alterations in functional connectivity (FC) of the brain. However, despite the consensus that ASD and other neurodevelopmental conditions emerge early in life, little is known about the trajectories of brain and behavioral development during the first years of life in children with ASD and co-occurring attention problems (AP).</p><p><strong>Methods: </strong>In a sample of 122 young children (ages 1.5-5 years) with and without ASD, we examined whether toddlers and preschoolers with ASD and co-occurring AP already differ from peers with ASD without co-occurring AP on adaptive and developmental skills, ASD symptoms, and FC of the frontoparietal and salience networks, which have been previously linked to ADHD symptoms in older children with ASD and ADHD.</p><p><strong>Results: </strong>Results of general linear model analyses revealed lower developmental and adaptive skills across multiple domains in children with ASD and elevated AP compared with their peers with lower AP, despite equivalent levels of ASD symptoms. Further, children with ASD and elevated AP showed reduced FC within the frontoparietal network (p = .027), between the frontoparietal and language networks (p = .004), and the frontoparietal and default mode networks (p = .046) in comparison to their peers with lower AP. No group differences in FC of the salience network were observed (all p > .05).</p><p><strong>Conclusions: </strong>These findings provide evidence that neurodevelopmental and behavioral differences in children with ASD and co-occurring AP emerge very early in life, before a reliable diagnosis of ADHD is typically made. Specifically, these results demonstrate that early inattention symptoms are associated with unique connectivity patterns in executive circuitry as early as the first years of life in toddlers and preschoolers with ASD, likely contributing to the phenotypic and neural heterogeneity recognized in autism. Thus, our results underscore the importance of considering co-occurring conditions early in developmental research and clinical care, as further understanding these trajectories can inform early interventions during the critical time period when they have the greatest potential for positive impact.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"63"},"PeriodicalIF":3.6,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12548181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145355114","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":"Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions.","authors":"Jacqueline Fitzgerald, Ciara J Molloy, Thomas Dinneen, Niamh E Feerick, Matthew O'Sullivan, Richard O'Conaill, Maryam Al-Shehhi, Richard Reilly, Sally Ann Lynch, Eleisa A Heron, Clare Kelly, Sanbing Shen, Louise Gallagher","doi":"10.1186/s11689-025-09625-5","DOIUrl":"10.1186/s11689-025-09625-5","url":null,"abstract":"<p><strong>Background: </strong>NRXN1 deletion (NRXN1 del) is a rare copy number variant associated with several neurodevelopmental, neuropsychiatric, and cognitive outcomes. The NRXN1 gene encodes for a pre-synaptic cell adhesion molecule that is important for synapse formation, regulation and neurotransmission. We used a gene-first approach to investigate neurocognitive and brain phenotypes in NRXN1 del carriers.</p><p><strong>Methods: </strong>Forty-two participants (21 NRXN1 del carriers and 21 neurotypical age and sex-matched comparisons) completed IQ assessments, and a neurocognitive battery, including, executive function, attention, and social cognition tasks. Magnetic resonance imaging (MRI) data, including T1-weighted anatomical scans, resting state functional MRI and diffusion tensor imaging, were acquired in 36 participants (17 NRXN1 del carriers and 19 comparisons).</p><p><strong>Results: </strong>NRXN1 del carriers had lower mean IQ and poorer spatial working memory performance compared to comparisons (p ≤ 0.05). Neuroimaging results revealed group differences in visual and ventral attention resting state networks (p < 0.05). Network-based statistical analysis showed a significant effect of group status for 28/115 connections, with poorer segregation between visual and default networks in NRXN1 del carriers relative to comparisons. No differences in brain structural volume or cortical thickness, or diffusion measures of white matter structural architecture were observed between groups.</p><p><strong>Conclusions: </strong>This exploratory study provides evidence for neurocognitive impacts and brain functional differences related to underlying synaptic mechanisms. Brain functional differences in NRXN1 del carriers may support altered excitation/inhibition dynamics within the brain. Gene-first approaches may establish brain-based translational markers to identify neurobiologically informed subgroups within neurodevelopmental and neuropsychiatric conditions, and ultimately transdiagnostic therapeutic strategies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"62"},"PeriodicalIF":4.0,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12522947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145301389","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":"Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis.","authors":"David J Adams, Alexandra M Klomhaus, Nicole R Wong, Benjamin N Schneider, Charlotte DiStefano, Sunil Mehta, Rujuta B Wilson, Julian A Martinez-Agosto, Shafali S Jeste, Aaron D Besterman","doi":"10.1186/s11689-025-09654-0","DOIUrl":"10.1186/s11689-025-09654-0","url":null,"abstract":"<p><p>BACKGROUND: This study aims to identify clinical and developmental factors associated with psychotropic medication exposure and subspecialty psychiatric service utilization among patients with genetic neurodevelopmental disorders (GNDDs). METHODS: We conducted a retrospective analysis of 316 patients from the Care and Research in Neurogenetics (CARING) Clinic at the University of California, Los Angeles (UCLA). We assessed the association between neurodevelopmental and psychiatric diagnoses, behavioral histories, family history, and service utilization with two outcomes: (1) the number of psychotropic medication classes trialed before clinic intake and (2) whether the patient was evaluated by a CARING psychiatrist. Poisson and logistic regression models were used to evaluate associations while adjusting for demographic and clinical covariates. RESULTS: Individuals with more severe behavioral disturbances had higher psychiatric service needs, while intellectual disability was associated with greater psychotropic medication exposure but not increased psychiatric consultation, possibly due to prior community-based care. The presence of a pathogenic/likely pathogenic genetic variant was not associated with either outcome, suggesting that genetic diagnosis alone does not predict psychiatric needs. Instead, behavioral comorbidities, not genetic status, were the primary drivers of psychotropic use and psychiatric referrals. A history of developmental delay was negatively associated with psychiatric consultation, and mediation analyses indicated that early intervention services partly explained this relationship. Additionally, patients receiving behavioral therapies had higher psychotropic exposure, reflecting greater clinical complexity and frequent use of multimodal treatment strategies. CONCLUSIONS: Our findings suggest that psychiatric needs in GNDDs are more closely tied to behavioral comorbidities than to genetic diagnosis status, reinforcing the importance of symptom-driven psychiatric evaluation. The observed relationship between early developmental interventions and psychiatric service utilization warrants further longitudinal investigation. These results highlight opportunities to optimize psychiatric care pathways through early screening, integrated behavioral and pharmacologic interventions, and targeted resource allocation for individuals with neurodevelopmental disorders. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"61"},"PeriodicalIF":3.6,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12506073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145244643","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 neurodevelopmental spectrum of CASK-related disorder.","authors":"Jessica Martin, Alkistis Mavrogalou-Foti, Josefine Eck, Laura Hattersley, Kate Baker","doi":"10.1186/s11689-025-09643-3","DOIUrl":"10.1186/s11689-025-09643-3","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Although the number of diagnosed cases is rising, current understanding of the CASK-related neurodevelopmental spectrum is limited. Here, we systematically review the published characteristics of individuals with CASK-related disorder, and compare these to a more recently-diagnosed group. We provide quantitative information about the ranges of adaptive abilities, motor function, visual function and social-emotional-behavioural characteristics, and explore within-group associations.</p><p><strong>Methods: </strong>One hundred and fifty-one individuals with CASK variants were identified in published literature. Thirty-one children and young people with CASK variants were recruited to the UK-based Brain and Behaviour in Neurodevelopmental disorders of Genetic Origin (BINGO) project. BINGO-participating caregivers completed a bespoke medical history questionnaire and battery of standardised neurodevelopmental measures.</p><p><strong>Results: </strong>Comparing the recently diagnosed BINGO CASK-related disorder group to previously reported individuals, we found consistent prevalence of tone abnormalities, sensorineural hearing loss and epilepsy, but lower prevalence of severe/profound ID, MICPCH, optic atrophy and nystagmus. Areas of frequent difficulty not highlighted in previous reports include sleep difficulties and cerebral visual impairment (CVI). Neurodevelopmental characteristics were highly variable within the BINGO CASK-related disorder group, and group-wide patterns were similar to those observed in other rare genetic conditions. Within the BINGO CASK-related group, epilepsy is significantly associated with ID severity, after controlling for age. Sub-groups with MICPCH or microcephaly only have equivalent ranges of adaptive function, but MICPCH may be associated with more severe motor difficulties.</p><p><strong>Conclusion: </strong>The spectrum of neurodevelopmental characteristics associated with CASK-related disorder appears to be broadening with increased access to genome-wide diagnostic testing. Further studies are needed to elucidate the relationships between CASK variants, structural brain development, epilepsy, and neurodevelopmental characteristics.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"60"},"PeriodicalIF":4.0,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212896","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":"Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.","authors":"Caleigh D Guoynes, Grace Pavalko, Michael S Sidorov","doi":"10.1186/s11689-025-09648-y","DOIUrl":"10.1186/s11689-025-09648-y","url":null,"abstract":"<p><p>BACKGROUND: Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on daily life for patients and caregivers. To evaluate new therapies for AS, it is crucial to have a mouse model that characterizes meaningful clinical features. Vocalizations are used in many contexts in mice, including pup retrieval, social interactions, courtship, and distress. Previous work in the Ube3am−/p+ mouse model of AS found abnormalities in the number of ultrasonic vocalizations (USVs) mice produced during pup isolation and same-sex social interactions. Here, we evaluated Ube3am−/p+ vocalizations during courtship and distress. Quantifying USVs in these contexts enables comparison of USVs in social (courtship) and non-social (distress) settings. In addition, we assessed the utility of incorporating USV testing into existing Ube3am−/p+ mouse behavioral assessments used to evaluate potential AS treatments. METHODS: We used multiple behavioral paradigms to evaluate courtship vocalizations and tail suspension tests to evaluate distress vocalizations in adult wild-type (WT) and Ube3am−/p+ littermates, and quantified USV properties using the program DeepSqueak. A subset of mice also performed an established Ube3am−/p+ behavioral battery that included rotarod, open field, marble burying, and nest building. We used principal component analysis to evaluate the value of USV testing in this cohort in the context of other behaviors. RESULTS: In both social courtship and nonsocial distress behavioral paradigms, Ube3am−/p+ mice made fewer USVs compared to WT mice. Spectral properties of USVs were abnormal in Ube3am−/p+ mice on courtship tests but mostly typical on distress tests. Including USVs in the Ube3am−/p+ mouse behavior battery increased the distance between Ube3am−/p+ and WT clusters in principal component space. CONCLUSIONS: Ube3am−/p+ mice have disrupted USV production in social and nonsocial contexts. Spectral properties of USVs are most impacted in the social courtship context. Adding USVs to the Ube3am−/p+ behavior battery may improve sensitivity to detect group differences and changes in communication. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"59"},"PeriodicalIF":3.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.","authors":"Nadia Y van Silfhout, Maud M van Muilekom, Clara D van Karnebeek, Lotte Haverman, Agnies M van Eeghen","doi":"10.1186/s11689-025-09647-z","DOIUrl":"10.1186/s11689-025-09647-z","url":null,"abstract":"<p><p>BACKGROUND: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs), which represent patient perspective on their health and functioning. Currently, various, and potentially irrelevant PROs are being measured for individuals with (G)ID. The aim of this study is to identify relevant PROs from the perspective of different stakeholders, as one of the first steps towards development of a meaningful PRO set for children and adults with (G)ID. METHODS: A qualitative study was performed using focus groups and interviews with individuals with (G)ID, caregivers, healthcare professionals (HCPs) and European patient representatives. A focus group- and interview guide was developed including two themes: the impact of (G)ID on daily life and important topics to discuss with HCPs. Data collection took place until data sufficiency was reached. All sessions were recorded and transcribed verbatim. Transcripts were analysed by three researchers using a thematic analysis approach. PROs were classified and conceptualized (i.e., describing the content of each PRO in detail) within a conceptual framework. RESULTS: Ten focus groups and 13 interviews were conducted with a total of 51 participants. In total, seven adolescents and 10 adults with (G)ID, 12 caregivers, 13 multidisciplinary HCPs and nine European patient representatives participated. Data sufficiency was reached. PROs reported by participants were related to all health domains including physical, mental, and social functioning. Themes related to the negative impact of (G)ID were prioritized for discussion during consultations. CONCLUSIONS: This study sheds light on relevant PROs for individuals with (G)ID, marking one of the first steps in developing a meaningful PRO set for (G)ID. Once established, this set will inform care, research agendas, policymaking, and the development of a generic patient reported outcome measure (PROM) set for (G)ID, improving care quality and research impact for this complex and vulnerable population. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"57"},"PeriodicalIF":3.6,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191888","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 association between infant EEG aperiodic exponent and the trajectory of restricted and repetitive behaviors for toddlers with and without autism.","authors":"Haerin Chung, Alex Job Said, Helen Tager-Flusberg, Charles A Nelson, Carol L Wilkinson","doi":"10.1186/s11689-025-09651-3","DOIUrl":"10.1186/s11689-025-09651-3","url":null,"abstract":"<p><strong>Background: </strong>Restricted and repetitive behaviors (RRB) are core features of autism but are also observed in typical development. Our understanding of the neural underpinnings of RRBs is limited. Given that excitation-inhibition (E/I) balance may underlie RRBs, we aimed to evaluate the relationship between aperiodic exponent (as a proxy of E/I balance) and changes in RRBs over time in infants with and without elevated likelihood of autism.</p><p><strong>Methods: </strong>Resting-state EEG data were collected from 12-to-14-month-old infants and aperiodic exponent was calculated. Parent-reported RRBs were obtained using the Repetitive Behavior Scale-Revised questionnaire to measure the severity and change in RRBs from 12-to-36 months. Multiple linear regressions were conducted to assess relationships between aperiodic and change in RRBs.</p><p><strong>Results: </strong>Marginal effects analysis of linear regressions revealed significant associations such that lower aperiodic exponent was associated with elevated RRBs reported over time across the whole sample ([Formula: see text]=0.31, β= -0.21, p = 0.01), which was more prominently observed in the infants who later received an autism diagnosis (δy/δx = -15.57, p < .001).</p><p><strong>Conclusions: </strong>Results suggest that early EEG aperiodic activity may serve as a potential correlate of increased manifestation of RRBs. Longitudinal studies are needed to elucidate whether the early trajectory of aperiodic activity in development influences the severity of RRBs in childhood.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"58"},"PeriodicalIF":4.0,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191914","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}