Journal of Neurodevelopmental Disorders最新文献

{"title":"Decreased attention in 10- and 14-month-olds with neurofibromatosis type 1 and association with later ADHD traits.","authors":"Tessel Bazelmans, Francesca Penza, Jannath Begum-Ali, Chloe Taylor, Mark H Johnson, Tony Charman, Jonathan Green, Shruti Garg, Emily J H Jones","doi":"10.1186/s11689-026-09702-3","DOIUrl":"10.1186/s11689-026-09702-3","url":null,"abstract":"<p><strong>Background: </strong>Identifying precursors to ADHD, which affects up to 5% of children, is crucial for early identification and support. To this end, we used a prospective sample to investigate endogenous attention and activity level in infants with and without an elevated likelihood (EL) for ADHD and investigated associations with ADHD traits at 3-years. EL status was based on a family history of autism and/or ADHD or a diagnosis of neurofibromatosis type 1 (NF1), a genetic condition associated with higher rates of ADHD.</p><p><strong>Methods: </strong>Infants (n = 26 typical likelihood (TL), n = 70 EL-autism, n = 28 EL-ADHD, n = 18 EL-autism + ADHD, and n = 29 NF1) participated in a live puppet task at 10 and/or 14 months. Mixed-effect models compared groups on behaviourally coded Focused Attention and Vigilance (i.e. Sustained Attention) and Movement, which was measured concurrently using an accelerometer to capture activity during these distinct attention states. Finally, we examined the bivariate associations of Attention and Movement, and their interaction, with 3-year parent-reported ADHD traits.</p><p><strong>Results: </strong>Infants with NF1 exhibited less Focused Attention and Vigilance than EL-ADHD [t (1,170) = 3.53, p = .005] or EL-autism [t (1,170) = 5.43, p < .001] infants and this did not differ across age. There were no Attention differences between the EL and TL groups and no Group or age differences in Movement, however Movement did vary by Attention type: [Formula: see text](2) = 215.25, p < .001 (Focused Attention < Vigilance < Looking elsewhere). Across the cohort, less Focused Attention at 10 months (rs = -.27, p = .008) was associated with more ADHD traits at 3-years. During Vigilance at 14 months, there was a significant Attention-by-Movement interaction effect (z = 25.65, p < .001), showing that the association between more Vigilance and fewer ADHD traits was most pronounced in infants showing less Movement.</p><p><strong>Conclusions: </strong>Reduced attention was observed from 10 months onwards in those with NF1, but not in those with a familial likelihood of ADHD. Moreover, early focused attention and the ability to modulate activity level by attentive state (i.e. more vigilant, less movement) may be important emerging features associated with later ADHD traits. We consider implications for early detection and early support strategies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13330184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147864083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural oscillatory dynamics reveal altered top-down and integrative mechanisms during face processing in autistic children and unaffected siblings of autistic children.","authors":"Theo Vanneau, Chloe Brittenham, Megan Darrell, John J Foxe, Sophie Molholm","doi":"10.1186/s11689-026-09706-z","DOIUrl":"10.1186/s11689-026-09706-z","url":null,"abstract":"<p><p>Face processing is fundamental to social communication and has been a major focus of autism research. While event-related potential (ERPs) studies of face processing have produced mixed results, little work has examined neuro-oscillatory dynamics, which may better capture the integrity of underlying networks. To address this gap, EEG was recorded from children aged 8-13 across three groups: autistic (n = 50), non-autistic (n = 38) and siblings of autistic children (n = 26), during a visual oddball task. In a blocked design, participants viewed faces and objects, presented upright and inverted (non-targets), to assess the face inversion effect (the FIE; a larger or delayed N170 to inverted than upright faces), and responded to infrequent shadow versions (targets). Analyses using permutation statistics and linear mixed models focused on non-target stimuli, quantifying face-related ERPs (P1, N170) and oscillatory activity associated with sensory and attentional processing (theta, alpha, gamma). Across groups, faces elicited earlier P1 and larger N170 amplitudes than objects, and showed a FIE. Furthermore, the rightward lateralization of the FIE was reduced for autistic participants. Analyses in the frequency domain revealed greater induced theta for inverted versus upright stimuli and for faces versus objects, revealing face specific effects, and stronger theta for inverted faces for the autistic and sibling groups, suggesting greater cognitive effort in processing these social stimuli. Gamma-band inter-trial phase coherence exhibited face selectivity only in the non-autistic group, pointing to differences in early network synchronization in autistic children relative to their non-autistic peers, whereas alpha event-related desynchronization did not vary by group or category. Altogether, these findings support altered neural synchronization/efficiency for autistic participants and siblings of autistic children, that is specific to face stimuli and seen despite largely typical sensory driven encoding. These data suggest that neural oscillatory assays are more sensitive to face processing differences in autism than broadband ERPs and that these oscillatory assays may be endophenotypic.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856381","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":"Emotion regulation and self-inhibition's association with mental health outcomes, caregiver strain, and well-being in parents of autistic children: a dyadic analysis.","authors":"Leonardo Dominguez Ortega, Alexandra Sturm, Meghan M Krushena, Amanda C Gulsrud","doi":"10.1186/s11689-026-09704-1","DOIUrl":"10.1186/s11689-026-09704-1","url":null,"abstract":"<p><strong>Background: </strong>Parents of autistic children report more depression, anxiety, and caregiver strain, and poorer well-being than parents of non-autistic children. Though more research has begun to investigate how parent-specific factors may influence these outcomes, few consider cognitive factors like emotion regulation or self-inhibition. These skills may be particularly relevant given their documented benefits and associations with mental health and well-being in the general population. An important consideration when investigating the needs of parents is the interconnectedness of the family unit. Thus, methodologies that consider this shared context are essential to appropriately support resilience of parents of autistic children.</p><p><strong>Methods: </strong>Our sample consisted of 263 different-sex parent dyads with at least one child formally diagnosed with autism spectrum disorder. Using the Actor-Partner Interdependence Model, we assessed the links between parents' emotion regulation and self-inhibition and their own and their partner's depression and anxiety symptoms, caregiver strain, and well-being. Interdependence was established using correlations given the distinguishable nature of our dyads.</p><p><strong>Results: </strong>Both mothers' and fathers' emotion regulation were associated with their own depression and anxiety symptoms, caregiver strain, and well-being. Stronger emotion regulation was associated with fewer mental health symptoms, less caregiver strain, and better well-being. There was only one significant association for self-inhibition: stronger self-inhibition scores in fathers were linked to better well-being. We did not observe any associations between parents' emotion regulation or self-inhibition and partner outcomes after false discovery rate correction.</p><p><strong>Conclusions: </strong>Emotion regulation, and not self-inhibition, emerged as an important source of resilience for mental health and well-being of parents of autistic children. Previous work has looked to reduce caregiver strain in this population through interventions that directly and indirectly target emotion regulation. Our findings highlight the need for further research on interventions that both directly target parents' emotion regulation skills and modify environmental contexts (e.g., social support, respite care) to enhance regulatory capacity and support parental resilience. As our work was cross-sectional, future work should investigate the causal relationship between emotion regulation, mental health, and well-being in parents of autistic children.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856248","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":"Gaboxadol increases resting theta and alpha power without affecting evoked responses in fragile X syndrome in a home-based setting.","authors":"Lisa A De Stefano, Hyeonseok Kim, Craig A Erickson, Lauren M Schmitt, Kelli C Dominick, Ernest V Pedapati, Richard Huckle, Robert Wilson, Walker S McKinney, Debra L Reisinger, Meredith N Nelson, Ashley E Dapore, Paul S Horn, Makoto Miyakoshi","doi":"10.1186/s11689-026-09700-5","DOIUrl":"10.1186/s11689-026-09700-5","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome (FXS) lacks FDA-approved treatments despite various small molecules contributing to phenotypic rescue in the FMR1 knockout (KO) mouse model. Translation from the mouse model has been hampered by phenotypic heterogeneity that contributes to participation barriers among participants who are most affected and may be unable to regularly visit the research laboratory. The current study utilized a crossover design to test the acute neural and behavioral effects of a single 10 mg dose of gaboxadol and the reliability of electroencephalography (EEG) and behavioral data collected in participant homes compared to the clinic.</p><p><strong>Methods: </strong>Ten adult males with full mutation FXS completed four blinded dosing visits (two placebo, two gaboxadol), with two occurring in-home and two in-lab. Pre- and post-dose assessments included resting high-density EEG, an auditory chirp paradigm, RBANS List Learning, and NIH Toolbox Cognition Battery subtests.</p><p><strong>Results: </strong>No serious adverse events were reported. Compared with placebo, gaboxadol increased theta and alpha band power, with no interaction between collection environment (home vs. lab). Additionally, gaboxadol increased the proportion of electrodes with detectable low-frequency peaks and slowed the peak frequency. There were no effects on auditory-evoked measures or NIH Toolbox, with only a marginal effect on RBANS List Learning. An analysis of pre-dose EEG found reliability estimates across testing locations for all tested resting power and behavioral measures that were similar to in-lab reliability estimates found in the literature.</p><p><strong>Conclusions: </strong>Single-dose gaboxadol augmented theta and alpha power in FXS during resting EEG, similar to previous findings in the typically developing population and in the FMR1 KO, without normalizing gamma abnormalities, altering auditory-evoked responses, or contributing to behavioral change. These results did not significantly differ between the home and lab settings, supporting the feasibility of in-home data collection for clinical trials in FXS, including those that use complex measures such as EEG as endpoints.</p><p><strong>Trial registration: </strong>clinicaltrials.gov, NCT06334419, Registration Date: March 8, 2024.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856245","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":"Prevalence and age of diagnosis of neurodevelopmental conditions among Asian populations in Aotearoa New Zealand.","authors":"Noriko K Panther, Nicholas Bowden, Joanna Chu, Stephanie D'Souza, Sujata Saha, Hiran Thabrew, Laurie K McLay","doi":"10.1186/s11689-026-09695-z","DOIUrl":"10.1186/s11689-026-09695-z","url":null,"abstract":"<p><p>PURPOSE: Asian populations are among the fastest-growing ethnic groups in Aotearoa New Zealand (NZ), yet little is known about the prevalence of neurodevelopmental conditions (NDCs) within these communities. The study compared the prevalence and age of diagnosis of NDCs (Attention Deficit Hyperactivity Disorder [ADHD], autism, communication and language disabilities [CLDs], intellectual disability [ID], motor disabilities [MDs], and specific learning disabilities [SLDs]) between NZ-born Asian and non-Asian populations, and differences across Asian subgroups. METHODS: A national cross-sectional analysis was conducted using linked administrative microdata from the Integrated Data Infrastructure, covering the 2021/22 estimated resident population aged 0–24 years (N = 1,334,247). Following adjustment for socioeconomic factors, standardized NDC rates were calculated for Asian and non-Asian populations and Asian subgroups (Indian, Chinese, Southeast Asian, and Other Asian). RESULTS: Lower standardized rates of NDCs were identified among Asian (2.85%, 95% CI [2.77, 2.94]) compared to non-Asian (4.52%, 95% CI [4.49, 4.56]) participants. Most notably, rates of ADHD (1.1%, 95% CI [1.05, 1.16] vs. 2.94%, 95% CI [2.91, 2.97]) and ID (0.34%, 95% CI [0.31, 0.38] vs. 0.58%, 95% CI [0.57, 0.60]) were significantly lower among Asian participants. Among Asian sub-groups, rates of NDCs were lowest for Chinese children, with particularly low rates of Autism, MDs and SLDs. CONCLUSION: Findings highlight substantial differences in NDC rates between NZ-born Asian and non-Asian ethnicities, suggesting that socioeconomic context, cultural perceptions, and diagnostic pathways may influence identification patterns across and between Asian subgroups. Culturally responsive approaches are critical for equitable NDC identification and support. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13238127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774158","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":"Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis.","authors":"Jarno Koetsier, Nasim Bahram Sangani, Ana Rita Gomes, Maria Margarida Diogo, Tiago G Fernandes, Freek G Bouwman, Edwin C M Mariman, Mehrnaz Ghazvini, Leon J Schurgers, Joost Gribnau, Leopold M G Curfs, Chris P Reutelingsperger, Lars M T Eijssen","doi":"10.1186/s11689-026-09699-9","DOIUrl":"10.1186/s11689-026-09699-9","url":null,"abstract":"<p><p>BACKGROUND: Rett Syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Despite its monogenic nature, the molecular events contributing to RTT pathogenesis are not fully elucidated. METHODS: We applied a multi-omics approach to comprehensively analyse the spatiotemporal gene and protein expression patterns in MeCP2-mutant (RTT) and isogenic control (IC) forebrain organoids. Dorsal and ventral forebrain organoids were cultured for 75 days using patient-derived RTT and IC hiPSC lines. Transcriptomics and proteomics profiles were characterized at days 0, 13, 40, and 75, corresponding to distinct neurodevelopmental phases. RESULTS: The spatiotemporal transcriptomic analysis revealed alterations in GABAergic signaling at the latest neurodevelopmental stages, while changes in neuronal development, DNA-associated processes, and post-transcriptional regulation were found to occur across different stages. These changes were also observed at the protein level and in independent validation datasets. Notably, differentially expressed lncRNA genes such as MIR137HG and PWRN1 may act as regulators of these affected processes. Moreover, our results provide systematic evidence for the involvement of imprinted genes in RTT pathology. CONCLUSIONS: Together, our study lays the foundation for future studies to functionally validate the significance of the identified processes and molecular targets in RTT pathogenesis, and to assess their value as therapeutic targets. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774203","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":"Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.","authors":"Allyson R Herriges, Ryan H Purcell","doi":"10.1186/s11689-026-09696-y","DOIUrl":"10.1186/s11689-026-09696-y","url":null,"abstract":"<p><p>3q29 deletion (3q29Del) syndrome is caused by a 1.6 Mb copy number variant (CNV) located near the telomeric end of the long arm of the third human chromosome. Hemizygosity of this set of 22 protein-coding genes significantly increases risk for schizophrenia and autism spectrum disorders among other neurodevelopmental conditions, but it is not known which genes in this CNV interval are responsible for these phenotypes. We have evaluated existing literature and public genomic resources for this set of genes, categorizing them based on known cellular functions and assessed their potential as phenotypic drivers. We provide a comprehensive, synthetic review of the essential known functions of 3q29 deleted genes, and how multiple 3q29-encoded proteins may functionally interact. Our analysis reveals that ubiquitination/SUMOylation stands out among processes potentially compromised due to compound haploinsufficiency of four 3q29Del genes (UBXN7, FBXO45, RNF168, SENP5). The available genomic evidence indicates that no single gene in the 3q29 locus is solely responsible for the neurodevelopmental phenotypes of 3q29Del syndrome. Overall, we propose that functional, expression, and gene constraint evidence supports six genes (TFRC, UBXN7, FBXO45, PAK2, NCBP2, DLG1) as the most likely phenotypic drivers in 3q29Del syndrome. Haploinsufficiency of these proteins would likely disrupt metabolic, synaptic, and signaling mechanisms in developing and mature neurons, which collectively may impair neural circuit differentiation and function.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774191","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":"Lifestyle intervention and cognitive outcomes in Down syndrome: a horizon 21 European Down syndrome consortium scoping review.","authors":"Eimear McGlinchey, Sarah Pape, Shahid H Zaman, Jessica Eustace-Cook, Anna Stockbauer, Eleni Baldimtsi, Ellen Melbye Langballe, Frode Kibsgaard Larsen, Katja Sandkühler, Phoebe Ivain, Anne-Sophie Rebillat, Pierre Ecrement, Mary McCarron, Bessy Benejam, Wan Ming Khoo, Juan Fortea, Johannes Levin, Fredrik Öhman, Ann-Charlotte Granholm-Bentley, Andre Strydom, Georg Nübling","doi":"10.1186/s11689-026-09694-0","DOIUrl":"10.1186/s11689-026-09694-0","url":null,"abstract":"<p><p>BACKGROUND: Life expectancy for individuals with Down syndrome (DS) has significantly increased, primarily due to medical advances. While DS is considered a genetically determined form of Alzheimer’s disease (DS-AD), with neuropathological markers evident by age 40, the onset of clinical dementia varies. Modifiable risk factors are thought to contribute meaningfully to dementia risk in the general population. Advances in intervention studies in the general population suggest cognitive decline can be reduced through multimodal lifestyle interventions, however no large-scale multimodal studies have been conducted in the DS population. SEARCH STRATEGY: A comprehensive search was conducted across five electronic databases—Medline, EMBASE, CINAHL, Web of Science, and ASSIA to identify studies that examined the relationship between lifestyle interventions and cognitive outcomes in adults with DS. The search combined database-specific controlled language with keywords related to exercise, diet, social activities, cardiovascular health, and brain stimulation. Studies included were peer-reviewed original research articles focusing on adults with DS and reported on cognitive outcomes or AD-related biomarkers. RESULTS: The search yielded 24,774 articles, with 16,868 remaining after duplicates were removed. A total of 44 articles met inclusion criteria across the domains of exercise, diet, cardiovascular health, social connectedness, and cognitive stimulation. Most studies focused on exercise, indicating some cognitive benefits, particularly in executive functions and working memory, though results were inconsistent, and many suggested the necessity of high adherence to intervention protocols. No studies were found that examined the direct impact of diet on cognition in DS. Findings on cognitive stimulation, cardiovascular health and social connectedness suggested potential but inconclusive benefits for cognitive function. CONCLUSIONS: This review underscores the significant gaps in research regarding non-pharmacological interventions for DS-AD. It highlights the need for tailored, well-structured studies to better understand and leverage potential cognitive benefits of lifestyle interventions in the DS population. Implementing such interventions early in life and before significant disease progression may help maintain quality of life and independence among individuals with DS. Future research should focus on comprehensive, multi-domain interventions to ascertain their efficacy and optimal application. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13231590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774233","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":"Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.","authors":"Jan Domaradzki, Dariusz Walkowiak","doi":"10.1186/s11689-026-09693-1","DOIUrl":"10.1186/s11689-026-09693-1","url":null,"abstract":"<p><p>BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disease that severely impacts a person’s health and daily living, requiring lifelong specialist care. This places substantial demands on caregivers, leading to a decline in physical and mental health, financial strain, and reduced quality of life. This study examines the association between a diagnostic journey in Angelman syndrome and parents’ quality of life. METHODS: A self-administered, anonymous, computer-assisted online survey of 120 caregivers was conducted between March and August 2024. The Polish version of the WHO Quality of Life-BREF and the Consumer Financial Protection Bureau Financial Well-Being Scale were used. The collected information was imported into JASP 0.18.3. RESULTS: 54.2% of caregivers experienced difficulties in obtaining timely diagnoses, 51.6% reported receiving misdiagnoses, and 87.4% consulted several specialists before the correct diagnosis was confirmed. Many caregivers believed that a delayed diagnosis harmed their children’s health (31.7%) and resulted in unwarranted or inappropriate hospitalizations (18.3%), medical procedures (26.7%), and medications (16.7%). Caregivers struggled to access genetic counselling and psychological support. AS caregivers had lower quality of life scores compared to the national average across all domains, including social relationships (85.8%), physical health (80.8%), environmental (72.5%), and psychological (61.7%). Caregivers’ quality of life was associated with economic stability, gender, and the timing of diagnosis. CONCLUSION: There is a need for better access to genetic testing, a holistic healthcare approach, and comprehensive support services for caregivers, as well as reliable information, psychological support, financial assistance, and social services. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13196216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147674400","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 prevalence of autism in cerebellar malformations: a systematic review and meta-analysis.","authors":"Douglas A Wells, Danny Jaber, Shreya Dey, J Seth VanZant, Ross A Carson, Mary Lou Klem, Sima Sharghi, Ronald R Seese","doi":"10.1186/s11689-026-09691-3","DOIUrl":"10.1186/s11689-026-09691-3","url":null,"abstract":"<p><p>The cerebellum contributes to the control of movement, language, and sociability. Purkinje cells, the main output neurons of the cerebellar cortex, are reduced in cerebellar malformations (CMs) and in autism spectrum disorder (ASD). Thus, CMs may increase the risk for ASD. We conducted a meta-analysis to determine the prevalence of ASD in individuals with CMs. We searched PubMed, Embase, and APA PsycINFO for studies assessing ASD in patients with radiologically confirmed CMs. We evaluated risk of bias using Joanna Briggs Institute Checklists. Finally, we extracted data to calculate ASD prevalence and assess variation across CM subtypes. From 1,564 screened articles, 32 studies met inclusion criteria, encompassing 1,032 individuals with CMs. ASD prevalence was 31.2%, significantly higher than the general population rate (1 in 31). High heterogeneity was observed (I² = 72.3%; p < 0.0001). Vermis and cerebellar hypoplasia reliably contributed to the high ASD prevalence. Many studies had small sample sizes and used different metrics to diagnose autism. ASD is more common in individuals with CMs, especially vermis malformations, than in the general population. Early neurodevelopmental monitoring may benefit those with prenatally diagnosed CMs.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13224601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690632","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}