2f:I[703058,["/_next/static/immutable/chunks/3bhq_5eh1d760.js","/_next/static/immutable/chunks/1855-ogyi8eh4.js","/_next/static/immutable/chunks/2pfsjpn6k6zlg.js","/_next/static/immutable/chunks/26c7v3_3uwnwu.js","/_next/static/immutable/chunks/25a3ozcrvi1ff.js","/_next/static/immutable/chunks/2r4wx50nvjh_4.js","/_next/static/immutable/chunks/23fsw06hsi5b1.js","/_next/static/immutable/chunks/06_yt270h41rg.js","/_next/static/immutable/chunks/3ezsiz-7shkna.js","/_next/static/immutable/chunks/20x2y96ldu5wx.js","/_next/static/immutable/chunks/2lxntcm3pd1_h.js","/_next/static/immutable/chunks/00dgco8irq3jw.js","/_next/static/immutable/chunks/00nwe-kq0rboc.js","/_next/static/immutable/chunks/2051ffx3xzio9.js"],"PaperListPageClient"] 30:T9b3,Abstract Aims To compare the prevalence of autism spectrum disorder (ASD) in children with and without epilepsy using clinical diagnoses and chart review with research‐defined criteria and to examine sex ratios, age at ASD onset, and intellectual disability between groups. Method The Olmsted County birth cohort included 30 490 individuals, of whom 257 (0.84%) had epilepsy diagnosed before 19 years of age. The cohort was previously screened for ASD using three case definitions: research‐inclusive (ASD‐R I ), research‐narrow (ASD‐R N ), and clinically diagnosed ASD (ASD‐C). For those with ASD‐R I , we assessed sex, intellectual disability (IQ < 70), and age at ASD onset. Means and proportions are reported when available. Results ASD prevalence was significantly higher in participants with epilepsy across all definitions: ASD‐R I 21.4% versus 3.2%; ASD‐R N 14.0% versus 1.6%; and ASD‐C 7.9% versus 0.7%. Children with both epilepsy and ASD‐R I were more often female (38.2% vs 25.8%), had higher rates of intellectual disability (56.5% vs 15.4%), and met the ASD‐R I criteria at a younger age (mean 7 years 5 months vs 8 years 8 months). Interpretation Co‐occurring ASD and epilepsy are frequently associated with intellectual disability, earlier age at ASD diagnosis, and reduced male predominance. 31:T705,Epilepsy affects 22.2% of people with intellectual disability compared with 1% of the general population. This study aims to identify characteristics associated with epilepsy-caused deaths in adults with intellectual disability and epilepsy in England. We conducted a retrospective population-based analysis of all deaths of adults with intellectual disability and epilepsy reviewed by the English Learning from Lives and Deaths programme (2016-2021). Deaths were classified by whether epilepsy was the primary cause or not. Demographic, clinical and care-related variables were analysed using multivariable Cox regression for associations with age at death and factors linked to epilepsy-related mortality. Epilepsy was the primary cause of death in 1584 (16.2%) of 9756 deaths of people with intellectual disability and epilepsy. These individuals died at a significantly younger median age than those who died of other causes (56 vs 62 years; p<0.001). Epilepsy and non-epilepsy-related deaths in this population were more common among people with moderate-to-profound intellectual disability (p<0.001) and those of African or Asian ethnicity (p<0.001). Risk factors included poor quality of care, service gaps and lack of annual health checks (p<0.001). Psychiatry and speech and language therapy (SALT) input was protective. Epilepsy-related deaths in intellectual disability may cause earlier mortality because of pervasive health inequalities and missed prevention opportunities. Targeted interventions, including annual health checks, improved multidisciplinary care access, improved inclusion of ethnic minorities, and integration of specialist psychiatric and SALT support may increase length of life. Systemic service redesign is required to reduce avoidable epilepsy-related mortality.32:T95b, Background Epilepsy affects 22.2% of people with intellectual disability compared with 1% of the general population. This study aims to identify characteristics associated with epilepsy-caused deaths in adults with intellectual disability and epilepsy in England. Methods We conducted a retrospective population-based analysis of all deaths of adults with intellectual disability and epilepsy reviewed by the English Learning from Lives and Deaths programme (2016–2021). Deaths were classified by whether epilepsy was the primary cause or not. Demographic, clinical and care-related variables were analysed using multivariable Cox regression for associations with age at death and factors linked to epilepsy-related mortality. Results Epilepsy was the primary cause of death in 1584 (16.2%) of 9756 deaths of people with intellectual disability and epilepsy. These individuals died at a significantly younger median age than those who died of other causes (56 vs 62 years; p<0.001). Epilepsy and non-epilepsy-related deaths in this population were more common among people with moderate-to-profound intellectual disability (p<0.001) and those of African or Asian ethnicity (p<0.001). Risk factors included poor quality of care, service gaps and lack of annual health checks (p<0.001). Psychiatry and speech and language therapy (SALT) input was protective. Conclusion Epilepsy-related deaths in intellectual disability may cause earlier mortality because of pervasive health inequalities and missed prevention opportunities. Targeted interventions, including annual health checks, improved multidisciplinary care access, improved inclusion of ethnic minorities, and integration of specialist psychiatric and SALT support may increase length of life. Systemic service redesign is required to reduce avoidable epilepsy-related mortality. 25:[[["$","script","0",{"type":"application/ld+json","dangerouslySetInnerHTML":{"__html":"{\"@context\":\"https://schema.org\",\"@type\":\"CollectionPage\",\"name\":\"Intellectual Disability: condition Research & Clinical Takeaways\",\"description\":\"Explore peer-reviewed papers on Intellectual Disability (condition). Clinician-written summaries and actionable practice insights. 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Women with intellectual disabilities showed marked knowledge gaps about menopause, which negatively shaped symptom severity and reduced help-seeking behavior.","limitations":"Very small sample (n=13) from a single linked service provider limits generalizability; qualitative design cannot establish prevalence or causality; restricted to mild or moderate intellectual disabilities, excluding those with severe or profound disability.","practice_takeaway":"Clinicians should proactively screen for menopausal symptoms in women with intellectual disabilities, as knowledge gaps and perceived dismissal create barriers to care. Accessible, tailored educational materials and clear care pathways are needed for this underserved group."}},{"doi":"10.1080/09286586.2026.2711666","pmid":"42536967","title":"Factors Associated with Pediatric Keratoconus – A Population-Based Nested Case–Control Study","journal_title":"Ophthalmic Epidemiology","journal_issn":"0928-6586","published_at":"2026-07-31T00:00:00.000Z","url":"https://doi.org/10.1080/09286586.2026.2711666","source_score":3,"is_retracted":false,"is_open_access":false,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-08-07T13:23:05.022Z","updated_at":"2026-08-07T13:23:05.022Z","tags":[{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"age_group","value":"pediatric","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"category","value":"Ophthalmology","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"condition","value":"Asthma","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"condition","value":"Atopic Dermatitis","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"condition","value":"Keratoconus","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"sample_size","value":"n=21483","value_numeric":21483},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"study_design","value":"Nested Case-Control Study","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"warning","value":"Sample size reported as combined cases (1,953) plus controls (19,530) = 21,483 total; the paper does not report a single aggregate N explicitly.","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"warning","value":"Study population is from a single Israeli insurer; ethnic and genetic composition may differ from other populations, which could affect generalizability of the SES and atopy findings.","value_numeric":null},{"paper_doi":"10.1080/09286586.2026.2711666","tag_type":"warning","value":"The inverse association between smoking and keratoconus is counterintuitive and likely reflects bias (e.g., reduced screening or underdiagnosis in adolescent smokers) rather than a protective biological effect — clinicians should not interpret this as beneficial.","value_numeric":null}],"summaries":{"what_studied":"This retrospective nested case-control study examined factors associated with keratoconus diagnosed before age 18, using data from Israel's largest healthcare provider (Clalit) from 2005–2020, comparing 1,953 pediatric keratoconus cases (mean age 14.2 years) to 19,530 age-matched controls.","key_result":"In multivariable analysis, male sex (OR 1.54), intellectual disability (OR 2.39), asthma (OR 1.41), atopic dermatitis (OR 1.39), and allergy (OR 1.28) were each independently associated with increased keratoconus risk; middle SES (OR 0.71), high SES (OR 0.57), and smoking (OR 0.73) were inversely associated. Diabetes showed no significant association (OR 1.01).","limitations":"- Retrospective design relies on coded diagnoses, risking misclassification or underdiagnosis of keratoconus.\n- The inverse association with smoking likely reflects confounding (e.g., lower screening rates or reporting bias in smoking adolescents) rather than a true protective effect.\n- Single-country, single-payer data may limit generalizability to other populations.","practice_takeaway":"Children with intellectual disability, asthma, atopic dermatitis, or allergies—especially males—are at notably higher risk for keratoconus and warrant proactive corneal screening. Low socioeconomic status should also prompt heightened vigilance, as higher SES was inversely associated with disease."}},{"doi":"10.1111/ppe.70177","pmid":"42444088","title":"Gestational Age as a Risk Factor for Neurodevelopmental Disabilities: Exploring Causal Pathways","journal_title":"Paediatric and Perinatal Epidemiology","journal_issn":"0269-5022","published_at":"2026-07-13T00:00:00.000Z","url":"https://doi.org/10.1111/ppe.70177","source_score":8,"is_retracted":false,"is_open_access":false,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-20T13:36:03.543Z","updated_at":"2026-07-20T13:36:03.543Z","tags":[{"paper_doi":"10.1111/ppe.70177","tag_type":"age_group","value":"neonate","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"age_group","value":"pediatric","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"category","value":"Obstetrics & Gynecology","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"category","value":"Pediatrics","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Attention Deficit Hyperactivity Disorder","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Cerebral Palsy","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Epilepsy","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"condition","value":"Preterm Birth","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"level_of_evidence","value":"2","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"sample_size","value":"n=2900000","value_numeric":2900000},{"paper_doi":"10.1111/ppe.70177","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"study_design","value":"Prospective Cohort Study","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"warning","value":"Sibship analysis controls only for stable inter-pregnancy confounders; residual confounding from pregnancy-specific factors remains possible.","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"warning","value":"The exact total sample size of 2.9 million is stated but the precise integer used for tagging is an approximation (2,900,000). The paper may report a more specific figure.","value_numeric":null},{"paper_doi":"10.1111/ppe.70177","tag_type":"warning","value":"The study spans 1967–2019, covering dramatically different eras of neonatal care; pooled estimates may not reflect current risk levels.","value_numeric":null}],"summaries":{"what_studied":"This prospective cohort study of 2.9 million Norwegian births (1967–2019) examined gestational-age-specific relative risks for five neurodevelopmental disabilities — cerebral palsy (CP), intellectual impairment, epilepsy, ASD, and ADHD — and explored how much of the association is causal vs. confounded by underlying maternal/fetal conditions.","key_result":"Compared to birth at 40 weeks, infants born at 23–27 weeks had RRs of 2.2 (95% CI 2.0–2.5) for ADHD and ~50 (95% CI 44–58) for CP. Post-term birth (≥43 weeks) showed smaller risks (RRs 1.15–1.45). Sibship-matched analyses attenuated preterm RRs, and birth defects showed similar gestational-age risk patterns — indicating substantial unmeasured confounding.","limitations":"Sibling analyses can only control for confounders stable across pregnancies, not pregnancy-specific factors. Registry-based diagnoses may introduce misclassification. The very long study window (1967–2019) spans major changes in obstetric and neonatal care.","practice_takeaway":"The true causal effect of gestational age on neurodevelopment is likely smaller — perhaps much smaller — than observed associations suggest. Clinicians should not assume prematurity alone drives neurodevelopmental risk; prenatal causes warrant equal attention in prevention strategies."}},{"doi":"10.3399/bjgp.2026.0160","pmid":"42392836","title":"Learning disability register enrolment in young people in England: Cohort Study, 2015-2023","journal_title":"British Journal of General Practice","journal_issn":"0960-1643","published_at":"2026-07-02T00:00:00.000Z","url":"https://doi.org/10.3399/bjgp.2026.0160","source_score":1,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-06T13:36:22.961Z","updated_at":"2026-07-06T13:36:22.961Z","tags":[{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"age_group","value":"adolescent","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"age_group","value":"adult","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"category","value":"Primary Health Care","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"condition","value":"Learning Disability","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"impact_flag","value":"safety_signal","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"modality","value":"Primary Care Register / Preventive Health Check","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"sample_size","value":"n=11776","value_numeric":11776},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"study_design","value":"Population-Based Cohort Study","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"warning","value":"The 11,776 figure represents new registrations only (first records), not the total population on the register at any time point — prevalence figures in Table 1 are based on cumulative register data and are much larger. The sample size tag reflects new registrations only.","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"warning","value":"The 2020–2021 peak in registrations may partly reflect COVID-19-related incentives (priority vaccination eligibility) rather than the NHS Long Term Plan alone — causality cannot be established from this observational design.","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"warning","value":"The planned removal of learning disability register targets in 2025/26 NHS operational guidance is noted by authors as a contemporaneous policy risk, but effects on registration rates are not yet observable in this dataset.","value_numeric":null},{"paper_doi":"10.3399/bjgp.2026.0160","tag_type":"warning","value":"The study captures administrative (recorded) prevalence, which substantially underestimates true population prevalence; findings reflect coding behaviour as much as clinical identification.","value_numeric":null}],"summaries":{"what_studied":"A population-based open cohort study using CPRD Aurum primary care data tracked 11,776 young people aged 14–24 in England first recorded on a GP learning disability register between 2015–2023, examining trends in registration rates and prevalence before and after the 2019 NHS Long Term Plan targets.","key_result":"New registration rates peaked in 2020–2021 (up to 15.8/10,000 PYAR in males aged 14–17; 8.4/10,000 in females), then fell back to pre-2019 levels by 2023. Recorded prevalence remains far below true population estimates (max 0.5% vs. 2–5% expected), with males 68–80% more likely to be registered than females (PRR 1.7–1.8). Among 18–21-year-olds, prevalence rose from ~9/10,000 in 2015 to 52.7/10,000 in 2023 in males—an 8–10 fold increase.","limitations":"- Ethnicity data were unavailable for the denominator, preventing ethnicity-adjusted analyses.\n- Under-ascertainment is likely: registration depends on accurate GP coding, and diagnoses made in secondary or community settings may not reach the GP record.\n- Deprivation (IMD) data were missing for ~one-third of patients, precluding deprivation-stratified analysis.","practice_takeaway":"GP practices should not assume eligible young people are already on their learning disability register — active case-finding using NHS England code lists and structured checklists (e.g., the 'Inclusion Tool') is needed, especially during the transition to adult services. Designating a named learning disability lead at practice or primary care network level can help sustain register completeness and equitable access to Annual Learning Disability Health Checks."}},{"doi":"10.1016/j.jaac.2026.06.017","pmid":"42392531","title":"Educational Attainment Polygenic Scores and School Performance in Adolescents With Psychiatric Disorders: A Population-Based Analysis of 86,122 Individuals From the iPSYCH2015 Case-Cohort","journal_title":"Journal of the American Academy of Child & Adolescent Psychiatry","journal_issn":"0890-8567","published_at":"2026-07-02T00:00:00.000Z","url":"https://doi.org/10.1016/j.jaac.2026.06.017","source_score":6,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-07T13:26:09.386Z","updated_at":"2026-07-07T13:26:09.386Z","tags":[{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"age_group","value":"adolescent","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"category","value":"Pediatrics","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Attachment Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Attention-Deficit/Hyperactivity Disorder","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Conduct Disorder","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Eating Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Mood Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Neurotic Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Oppositional Defiant Disorder","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Substance Use Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"condition","value":"Tic Disorders","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"modality","value":"Polygenic Score","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"sample_size","value":"n=86122","value_numeric":86122},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"study_design","value":"Population-Based Case-Cohort Study","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"warning","value":"Level of evidence assigned as 3 (large observational cohort); no randomization or intervention is present, so causal inference is limited.","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"warning","value":"'Neurotic disorders' and 'attachment disorders' are broad, registry-based diagnostic groupings that may not map cleanly to DSM-5 categories used in other clinical settings.","value_numeric":null},{"paper_doi":"10.1016/j.jaac.2026.06.017","tag_type":"warning","value":"The paper's DOI and publication date (July 2, 2026) are in the future relative to standard publication timelines — content appears to be from an accepted/ahead-of-print article; findings should be interpreted accordingly.","value_numeric":null}],"summaries":{"what_studied":"This population-based case-cohort study examined whether polygenic scores for educational attainment (EA-PGS) predict ninth-grade school performance (pass rates, Danish and math grades) in 86,122 Danish adolescents (36,659 with psychiatric disorders) from iPSYCH2015, and whether parental education or sex modified these associations.","key_result":"Higher EA-PGS was linked to better school performance across all adolescents, but those with psychiatric disorders scored worse than controls at comparable EA-PGS levels. EA-PGS effects on pass/fail outcomes differed between cases and controls in 7 disorder groups (attachment, eating, neurotic, mood, substance use, tic disorders, and intellectual disability; qFDR<0.05); effects were larger in cases except for intellectual disability, where they were attenuated. Parental education (but not sex) significantly modified the EA-PGS–passing association (interaction p=0.008), especially at lower EA-PGS levels.","limitations":"- Study is limited to Denmark, so findings may not generalize to other educational systems or populations.\n- Case-cohort design and registry-based diagnoses may introduce ascertainment or misclassification bias.\n- EA-PGS explains only a portion of variance in outcomes; unmeasured environmental confounders remain.","practice_takeaway":"Adolescents with psychiatric disorders face a school performance gap that persists even after accounting for genetic educational potential—clinicians should not assume genetic risk scores fully explain poor academic outcomes. Both genetic factors and parental education level should be considered when supporting at-risk youth, particularly those with lower EA-PGS."}},{"doi":"10.1186/s13229-026-00727-y","pmid":"42380932","title":"Developing a consensus research definition for profound autism using a modified Delphi method","journal_title":"Molecular Autism","journal_issn":"2040-2392","published_at":"2026-06-30T00:00:00.000Z","url":"https://doi.org/10.1186/s13229-026-00727-y","source_score":29,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-12T13:19:50.658Z","updated_at":"2026-07-12T13:19:50.658Z","tags":[{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"category","value":"Neurosciences","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"condition","value":"Profound Autism","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"level_of_evidence","value":"5","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"sample_size","value":"n=78","value_numeric":78},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"study_design","value":"Delphi Consensus Study","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"warning","value":"Level of evidence set to 5 (expert consensus/Delphi); no control group or randomization is involved.","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"warning","value":"No drug or therapeutic modality is evaluated — this is a definitional/classification consensus study. Modality and brand/generic tags are not applicable.","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"warning","value":"The 'impact_flag' of practice_changing reflects the field-defining nature of this consensus definition for research; authors explicitly caution it is NOT yet ready for clinical use.","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"warning","value":"The IQ <50 threshold was included despite not independently reaching the 75% consensus threshold (68% agreement); its inclusion was a steering committee decision made in combination with the verbal ability criterion.","value_numeric":null},{"paper_doi":"10.1186/s13229-026-00727-y","tag_type":"warning","value":"The study was not registered, which is a methodological limitation noted by the authors. Findings follow ACCORD reporting guidelines.","value_numeric":null}],"summaries":{"what_studied":"A modified two-round Delphi consensus study involving 137 invited participants (researchers, clinicians, caregivers, autistic individuals) was conducted in 2024–2025 to develop a standardized research definition of Profound Autism (PA) — a subgroup of ASD requiring lifelong, round-the-clock care.","key_result":"76% of 78 second-round respondents agreed on a research definition of PA: ASD diagnosis + adaptive functioning well below age level + requiring adult supervision for health/safety + age ≥8 years + IQ <50 and/or verbal communication limited to single words or fixed phrases used mainly to meet basic needs. The highest agreement (97%) was on the need for 24/7 adult supervision and significantly impaired adaptive functioning.","limitations":"- Final sample (n=78, 58% response rate) was overwhelmingly US-based (89%), limiting global generalizability.\n- Only 2–3% of respondents self-identified as autistic, underrepresenting that stakeholder group.\n- No IQ cut-off reached the 75% consensus threshold independently; IQ <50 had only 68% agreement, making its inclusion partly provisional.","practice_takeaway":"For now, this definition is intended for **research use only** — not routine clinical application — particularly where IQ testing is inaccessible or unreliable. Clinicians should note that challenging behaviors and comorbidities (e.g., epilepsy, ADHD) were deliberately excluded from the definition, as they are not universal to this group."}},{"doi":"10.1111/dmcn.70337","pmid":"42338150","title":"Sleep profiles in individuals with rare neurogenetic syndromes","journal_title":"Developmental Medicine & Child Neurology","journal_issn":"0012-1622","published_at":"2026-06-23T00:00:00.000Z","url":"https://doi.org/10.1111/dmcn.70337","source_score":8,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-26T13:25:30.500Z","updated_at":"2026-06-26T13:25:30.500Z","tags":[{"paper_doi":"10.1111/dmcn.70337","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"category","value":"Pediatrics","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"Malan Syndrome","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"Neurogenetic Disorders","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"PTEN Hamartoma Tumor Syndrome","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"Sleep Disorders","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"condition","value":"SYNGAP1-Related Intellectual Disability","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"level_of_evidence","value":"4","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"sample_size","value":"n=248","value_numeric":248},{"paper_doi":"10.1111/dmcn.70337","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"study_design","value":"Cross-Sectional Study","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"warning","value":"No pharmacological or therapeutic intervention was studied; modality and brand/generic drug tags are not applicable.","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"warning","value":"The 'other NGDs' group includes several distinct genetic conditions (ADNP, CSNK2A1, GRIN2B, STXBP1), making syndrome-specific conclusions difficult for that subgroup.","value_numeric":null},{"paper_doi":"10.1111/dmcn.70337","tag_type":"warning","value":"The sample spans a very wide age range (3–45 years), mixing pediatric and adult participants, which may obscure age-specific sleep patterns. The age_group tag is set to 'mixed' accordingly.","value_numeric":null}],"summaries":{"what_studied":"This cross-sectional caregiver-report study characterized sleep profiles in 248 individuals (aged 3–45 years) with neurogenetic disorders (NGDs) — including PTEN hamartoma tumor syndrome, SYNGAP1-related intellectual disability, and Malan syndrome — and examined how clinical and psychiatric factors relate to those profiles.","key_result":"Latent profile analysis identified five distinct sleep profiles (low symptomatology, early morning somnolence, insomnia symptoms, high symptomatology, and bedtime resistance); profiles differed significantly by age, intellectual functioning, and psychiatric correlates — notably higher self-injury in the insomnia profile and greater depressed affect in the high sleep symptomatology profile.","limitations":"- Caregiver-report only; no objective sleep measures (e.g., actigraphy or polysomnography).\n- Cross-sectional design precludes causal inference between sleep profiles and psychiatric symptoms.\n- Heterogeneous 'other NGDs' group (n=69) limits generalizability to specific rare diagnoses.","practice_takeaway":"Screen for sleep problems early and routinely in patients with neurogenetic disorders, as distinct sleep profiles — especially insomnia and high symptomatology — track with self-injury and depressed affect regardless of specific genetic diagnosis. Targeting sleep may offer a transdiagnostic entry point for improving broader mental health outcomes in this population."}},{"doi":"10.1177/13591045261453402","pmid":"42200725","title":"Psychiatric Comorbidities in 7-12 Year Old Children Diagnosed With ADHD in South Africa: A Record Review","journal_title":"Clinical Child Psychology and Psychiatry","journal_issn":"1359-1045","published_at":"2026-05-27T00:00:00.000Z","url":"https://doi.org/10.1177/13591045261453402","source_score":1,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-08T13:46:48.564Z","updated_at":"2026-06-08T13:46:48.564Z","tags":[{"paper_doi":"10.1177/13591045261453402","tag_type":"age_group","value":"child","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"category","value":"Psychology, Clinical","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"condition","value":"Attention Deficit Hyperactivity Disorder","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"condition","value":"Generalised Anxiety Disorder","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"condition","value":"Oppositional Defiant Disorder","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"impact_flag","value":"limited_evidence","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"level_of_evidence","value":"4","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"sample_size","value":"n=108","value_numeric":108},{"paper_doi":"10.1177/13591045261453402","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"study_design","value":"Retrospective Cross-Sectional Record Review","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"warning","value":"Sex-based differences in ODD and ASD presentation diverge from most international literature; replication in larger samples is needed before clinical generalisation.","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"warning","value":"Study is from a single tertiary hospital in Johannesburg; findings may not represent community or rural South African settings.","value_numeric":null},{"paper_doi":"10.1177/13591045261453402","tag_type":"warning","value":"The unusually high comorbidity rate (95.5%) likely reflects referral bias inherent to a specialist academic hospital population.","value_numeric":null}],"summaries":{"what_studied":"Retrospective cross-sectional record review of 108 children aged 7–12 years with primary ADHD at a South African academic hospital (CAFU, CMJAH) between January 2020 and December 2022, describing the prevalence and types of psychiatric comorbidities and associated psychosocial factors.","key_result":"95.5% of children had at least one psychiatric comorbidity; the most common were generalised anxiety disorder (52.8%), intellectual disability (38.9%), and oppositional defiant disorder (29.6%). Females were more likely to have ODD (p=.007) and males more likely to have ASD (p=.032). High rates of domestic violence (29.6%), parental substance abuse (33.3%), and parental psychiatric history (30.6%) were documented.","limitations":"- Small sample (n=108 from 573 screened) from a single tertiary centre limits generalisability to broader South African or African populations.\n- Retrospective record review introduces risk of incomplete or inconsistent documentation.\n- Cross-sectional design prevents inference about causality or temporal relationships between psychosocial factors and comorbidities.","practice_takeaway":"Children with ADHD in South Africa carry an exceptionally high burden of psychiatric comorbidities — far exceeding international estimates — making routine, comprehensive, trauma-informed assessment essential at the point of diagnosis. Clinicians should routinely screen for anxiety, intellectual disability, and ODD, and document psychosocial adversities such as domestic violence and parental mental illness as part of every ADHD evaluation."}},{"doi":"10.1192/bjo.2026.11036","pmid":"42187194","title":"Prevalence of mental disorders in people with intellectual disabilities across the lifespan: umbrella review","journal_title":"BJPsych Open","journal_issn":"2056-4724","published_at":"2026-05-26T00:00:00.000Z","url":"https://doi.org/10.1192/bjo.2026.11036","source_score":21,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-30T13:22:52.429Z","updated_at":"2026-05-30T13:22:52.429Z","tags":[{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"category","value":"Psychiatry","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"22q11.2 Deletion Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Anxiety Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Depressive Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Down Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Fragile-X Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Obsessive-Compulsive Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Personality Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Post-Traumatic Stress Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Schizophrenia Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Williams Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"sample_size","value":"n=248606","value_numeric":248606},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"study_design","value":"Umbrella Review","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Level of evidence assigned as 3 (systematic review of lower-quality studies); all but one included review was rated low or critically low on AMSTAR-2, which limits confidence in pooled estimates.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Prevalence comparisons with the general population use mixed timeframes (point, period, lifetime) across studies, limiting direct comparability.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Sample size reported is the unadjusted sum across meta-analyses only; overlap with primary studies across reviews cannot be excluded and total N may be inflated.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"The umbrella review did not extract or re-analyse primary-level data, so overlap between reviews could not be formally quantified.","value_numeric":null}],"summaries":{"what_studied":"This umbrella review synthesised 26 systematic reviews (7 meta-analyses, 19 narrative reviews) on the prevalence of specific mental disorders in people with intellectual disabilities (ID) across the lifespan, with or without co-occurring neurodevelopmental conditions such as autism spectrum disorder (ASD), searched up to December 2024.","key_result":"Compared with the general population, schizophrenia prevalence was 6× higher (3.55–4.80% vs. 0.3–0.7%), OCD was roughly double (2.4% vs. 1.1–1.8%), and anxiety disorders were elevated (5.4–5.5%). Mood disorders (6–7%), personality disorders, and PTSD appeared lower than in the general population, likely reflecting underdiagnosis. Anxiety was markedly high in fragile-X (49%), Williams (48%), and 22q11.2 deletion syndromes (38%). Overall quality of included reviews was low to critically low.","limitations":"- Most included reviews rated 'low' or 'critically low' on AMSTAR-2, limiting certainty in prevalence estimates.\n- Major evidence gaps exist for bipolar disorder, eating disorders, substance use disorders, and dementia; stratified data by sex, age, and ID severity are scarce.\n- Overlapping primary studies across included reviews could not be formally evaluated, and underdiagnosis is likely for several conditions (especially mood disorders and PTSD).","practice_takeaway":"Clinicians should maintain a high index of suspicion for schizophrenia, OCD, and anxiety disorders in people with ID, especially those with fragile-X, Williams, or 22q11.2 deletion syndromes. Apparent lower rates of mood disorders and PTSD likely reflect underdiagnosis rather than true lower burden, so active screening using ID-adapted tools is warranted."}},{"doi":"10.1016/j.psychres.2026.117246","pmid":"42214315","title":"The proportion of intellectual disability in autism spectrum disorder over two decades","journal_title":"Psychiatry Research","journal_issn":"0165-1781","published_at":"2026-05-26T00:00:00.000Z","url":"https://doi.org/10.1016/j.psychres.2026.117246","source_score":11,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-02T13:27:29.115Z","updated_at":"2026-06-02T13:27:29.115Z","tags":[{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"category","value":"Psychiatry","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"sample_size","value":"n=3045819","value_numeric":3045819},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"study_design","value":"Population-Based Registry Study","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"warning","value":"Level of evidence set to 3 (large observational cohort); no experimental design or comparator intervention is present.","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"warning","value":"The DOI and publication year (2026) are future-dated relative to common databases — verify citation availability before clinical referencing.","value_numeric":null},{"paper_doi":"10.1016/j.psychres.2026.117246","tag_type":"warning","value":"The 'practice_changing' flag reflects a major epidemiological shift in co-occurrence rates, but the study is observational and causality (e.g., specific role of DSM-5 vs. ICD-10/11 changes) cannot be confirmed from registry data alone.","value_numeric":null}],"summaries":{"what_studied":"This Swedish population-based registry study examined the proportion of co-diagnosed intellectual disability (ID) in individuals with autism over two decades (2001–2020), drawing from 3,045,819 individuals born 1988–2016, of whom 81,286 received an autism diagnosis.","key_result":"Autism prevalence rose 800% from 2001–2020. Among 81,286 autistic individuals, 13,403 (16.5%) also had ID. The proportion of ID in autism fell sharply from 55.8% in 2001 to 6.7% in 2020, with parallel declines in both females and males and in subgroups diagnosed before age 13 or 7.","limitations":"- Registry-based data may miss undiagnosed cases and cannot confirm whether diagnostic broadening fully explains the trend.\n- Study is limited to Sweden; results may not generalize to countries with different diagnostic practices or healthcare access.\n- Changes in diagnostic criteria (e.g., DSM/ICD revisions) and clinician awareness are likely confounders but cannot be fully disentangled.","practice_takeaway":"Clinicians should expect that most individuals newly diagnosed with autism today will not have co-occurring intellectual disability — a marked shift from earlier decades. Cognitive ability assessments remain important, but assumptions linking autism to ID are increasingly outdated."}},{"doi":"10.1016/j.neuron.2026.04.032","pmid":"42155452","title":"Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target","journal_title":"Neuron","journal_issn":"0896-6273","published_at":"2026-05-18T00:00:00.000Z","url":"https://doi.org/10.1016/j.neuron.2026.04.032","source_score":51,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-23T13:24:46.998Z","updated_at":"2026-05-23T13:24:46.998Z","tags":[{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"category","value":"Neurosciences","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"condition","value":"Fragile X Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"generic","value":"EPAC2 antagonist","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"level_of_evidence","value":"5","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"modality","value":"cAMP Signaling Antagonist","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"study_design","value":"Preclinical Animal Study","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"warning","value":"Sample sizes (number of animals per group) are not reported in the abstract; this limits assessment of statistical robustness.","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"warning","value":"The abstract contains a likely typo: 'direftly' appears to be 'directly' — this does not affect data extraction but may indicate a pre-final manuscript version.","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"warning","value":"The DOI and publication date (2026-05-18) are in the future relative to most training data; content is taken at face value from the abstract as provided. No peer-review status beyond journal acceptance can be confirmed.","value_numeric":null},{"paper_doi":"10.1016/j.neuron.2026.04.032","tag_type":"warning","value":"The 'practice_changing' impact flag reflects the identification of a novel mechanistic target with in-vivo rescue data, not yet human clinical evidence — clinicians should interpret with caution.","value_numeric":null}],"summaries":{"what_studied":"Cell-type-specific translatomic profiling of cortical excitatory (Camk2a) and inhibitory (Pvalb) neurons in Fmr1 knockout mice was used to identify molecular targets, then EPAC2 antagonism was tested for its ability to restore circuit function and behavior in fragile X syndrome (FXS) mouse models.","key_result":"184 genes were concordantly dysregulated across both cell types; only *Rapgef4* (EPAC2) was upregulated in Fmr1 KO, brain-enriched, an FMRP target, and linked to neurodevelopmental disorders. Pharmacological EPAC2 antagonism restored cortical circuit function and improved multiple behavioral phenotypes in Fmr1 KO mice.","limitations":"Findings are based entirely on a mouse (Fmr1 KO) model; translational relevance to human FXS patients remains undemonstrated. Only two specific neuron subtypes (Camk2a, Pvalb) were profiled, potentially missing contributions from other cell types. Behavioral and circuit rescue data derive from animal studies with no dose-optimization or safety data in higher organisms.","practice_takeaway":"EPAC2 (encoded by *Rapgef4*) is a novel, biologically prioritized therapeutic target in FXS; clinicians and researchers should watch for early-phase trials testing EPAC2 antagonists in FXS patients. No human treatment recommendations can be made yet."}},{"doi":"10.1111/dmcn.70288","pmid":"42087773","title":"Prevalence of autism in children with epilepsy: A population‐based study","journal_title":"Developmental Medicine & Child Neurology","journal_issn":"0012-1622","published_at":"2026-05-06T00:00:00.000Z","url":"https://doi.org/10.1111/dmcn.70288","source_score":72,"is_retracted":false,"is_open_access":false,"raw_metadata":{"ooir":{"day":"2026-05-06","doi":"10.1111/dmcn.70288","days":"14","issn":"0012-1622","rank":"5","field":"Clinical Medicine","score":"72","category":"Clinical Neurology","categories":["Clinical Neurology","Pediatrics"],"_categories":["Clinical Neurology","Pediatrics"]},"pubmed":{"doi":"10.1111/dmcn.70288","title":"Prevalence of autism in children with epilepsy: A population-based study.","journal":"Developmental medicine and child neurology","methods":"The Olmsted County birth cohort included 30 490 individuals, of whom 257 (0.84%) had epilepsy diagnosed before 19 years of age. The cohort was previously screened for ASD using three case definitions: research-inclusive (ASD-R","results":"ASD prevalence was significantly higher in participants with epilepsy across all definitions: ASD-R","abstract":"To compare the prevalence of autism spectrum disorder (ASD) in children with and without epilepsy using clinical diagnoses and chart review with research-defined criteria and to examine sex ratios, age at ASD onset, and intellectual disability between groups.\nThe Olmsted County birth cohort included 30 490 individuals, of whom 257 (0.84%) had epilepsy diagnosed before 19 years of age. The cohort was previously screened for ASD using three case definitions: research-inclusive (ASD-R\nASD prevalence was significantly higher in participants with epilepsy across all definitions: ASD-R\nCo-occurring ASD and epilepsy are frequently associated with intellectual disability, earlier age at ASD diagnosis, and reduced male predominance.","keywords":[],"pubmed_id":"42087773","conclusions":"","publication_date":"2026-05-06T00:00:00"},"crossref":{"DOI":"10.1111/dmcn.70288","URL":"https://doi.org/10.1111/dmcn.70288","ISSN":["0012-1622","1469-8749"],"link":[{"URL":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.70288","content-type":"application/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dmcn.70288","content-type":"application/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.70288","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"page":null,"type":"journal-article","issue":null,"score":1,"title":["Prevalence of autism in children with epilepsy: A population‐based study"],"author":[{"given":"Mariya","family":"Saify","sequence":"first","affiliation":[{"name":"Mayo Clinic, Neurology Rochester MN USA"}]},{"given":"Maja Z.","family":"Katusic","sequence":"additional","affiliation":[{"name":"Mayo Clinic, Developmental Behavioral Pediatrics Rochester MN USA"}]},{"given":"Scott M.","family":"Myers","sequence":"additional","affiliation":[{"name":"Geisinger, Department of Developmental Medicine Lewisburg PA USA"},{"name":"Geisinger College of Health Sciences Scranton PA USA"}]},{"given":"Robert G.","family":"Voigt","sequence":"additional","affiliation":[{"name":"Michael R. 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Neuro"],"is-referenced-by-count":0},"unpaywall":{"doi":"10.1111/dmcn.70288","is_oa":false,"title":"Prevalence of autism in children with epilepsy: A population‐based study","updated":"2026-05-07T14:04:23+00:00","published_date":"2026-05-06","best_oa_location":null}},"created_at":"2026-05-07T22:50:54.752Z","updated_at":"2026-05-14T15:13:26.918Z","tags":[{"paper_doi":"10.1111/dmcn.70288","tag_type":"age_group","value":"pediatric","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"category","value":"Clinical Neurology","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"category","value":"Pediatrics","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"condition","value":"Epilepsy","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"level_of_evidence","value":"2","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"sample_size","value":"n=30,490","value_numeric":30490},{"paper_doi":"10.1111/dmcn.70288","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"study_design","value":"Population-Based Cohort Study","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"warning","value":"The epilepsy subgroup (n=257) is relatively small; subgroup comparisons (e.g., sex, ID) should be interpreted with caution.","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"warning","value":"The study uses three different ASD case definitions (ASD-RI, ASD-RN, ASD-C), which produce substantially different prevalence estimates — clinicians should note that the broadest definition (ASD-RI) may overestimate clinically recognized ASD rates.","value_numeric":null},{"paper_doi":"10.1111/dmcn.70288","tag_type":"warning","value":"This is a birth cohort from a single U.S. county (Olmsted County, MN), which may not reflect ethnically or socioeconomically diverse populations.","value_numeric":null}],"summaries":{"what_studied":"This population-based birth cohort study (Olmsted County, n=30,490) compared ASD prevalence in children with epilepsy (n=257, diagnosed before age 19) versus those without, using three case definitions: research-inclusive (ASD-RI), research-narrow (ASD-RN), and clinically diagnosed (ASD-C). It also examined sex ratios, intellectual disability rates, and age at ASD onset.","key_result":"ASD prevalence was markedly higher in children with epilepsy across all definitions — ASD-RI 21.4% vs. 3.2%, ASD-RN 14.0% vs. 1.6%, and ASD-C 7.9% vs. 0.7%. Those with both conditions were more often female (38.2% vs. 25.8%), had higher rates of intellectual disability (56.5% vs. 15.4%), and received ASD criteria at a younger mean age (7y 5mo vs. 8y 8mo).","limitations":"- The epilepsy group was small (n=257), limiting statistical power for subgroup analyses.\n- Olmsted County is geographically and demographically narrow, limiting generalizability.\n- Chart review-based ascertainment may miss milder ASD cases, especially in the clinical definition group.","practice_takeaway":"Clinicians managing children with epilepsy should have a low threshold to screen for ASD — especially in girls and those with intellectual disability, who are at disproportionately higher risk. Earlier ASD onset in this group underscores the value of proactive developmental surveillance from the time of epilepsy diagnosis."}},{"doi":"10.1001/jamapediatrics.2026.0857","pmid":"41973413","title":"Risk of Cardiovascular Disease in Parents of Children Diagnosed With Neurodevelopmental Disorders","journal_title":"JAMA Pediatrics","journal_issn":"2168-6203","published_at":"2026-04-13T00:00:00.000Z","url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13077574/","source_score":35,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-10T14:23:47.972Z","updated_at":"2026-06-10T14:23:47.972Z","tags":[{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"age_group","value":"adult","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"category","value":"Pediatrics","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"condition","value":"Attention-Deficit/Hyperactivity Disorder","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"condition","value":"Cardiovascular Disease","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"condition","value":"Neurodevelopmental Disorders","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"level_of_evidence","value":"2","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"sample_size","value":"n=2063076","value_numeric":2063076},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"study_design","value":"Cohort Study","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"warning","value":"The 'impact_flag' of practice_changing is applied cautiously — the authors themselves note findings need confirmation by future studies before clinical guidelines change.","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"warning","value":"The paper references 'all 3 NDDs' but does not explicitly name them in the abstract; likely ADHD, autism spectrum disorder, and intellectual disability based on common Swedish registry studies — clinicians should verify in the full text.","value_numeric":null},{"paper_doi":"10.1001/jamapediatrics.2026.0857","tag_type":"warning","value":"Total sample size of ~2.06M is the sum of mothers and fathers; these may not be independent individuals (couples sharing children), which could affect interpretation of combined statistics.","value_numeric":null}],"summaries":{"what_studied":"This Swedish national registry cohort study examined whether parents of children diagnosed with neurodevelopmental disorders (NDDs — including ADHD, autism, and intellectual disability) face a higher risk of cardiovascular disease (CVD), following 1.18M mothers and 882K fathers from first childbirth through up to 2023.","key_result":"Parents of NDD-affected children had significantly higher CVD risk vs. parents without NDD children (mothers: HR 1.27 [95% CI 1.25–1.29]; fathers: HR 1.20 [95% CI 1.18–1.22]). Risk scaled with number of affected children — mothers with ≥3 NDD children had HR 1.66 [95% CI 1.56–1.77]; the pattern held across all NDD types and major CVD subtypes, and was consistent in sibling comparison analyses.","limitations":"- Observational registry design cannot establish causality; residual confounding by shared genetic factors or socioeconomic status is possible.\n- Study population is Swedish, limiting generalizability to other healthcare systems and ethnicities.\n- NDD and CVD diagnoses rely on register coding accuracy; milder or undiagnosed cases may be missed.","practice_takeaway":"Clinicians caring for parents of children with NDDs — especially those with multiple affected children — should consider earlier and more proactive cardiovascular risk screening. This dose-response relationship across NDD burden suggests cumulative caregiver stress may be a modifiable CVD risk factor worth addressing."}},{"doi":"10.1002/cpp.70202","pmid":"41496656","title":"Adapting Psychological Therapies for Individuals With Intellectual Disabilities: A Systematic Review","journal_title":"Clinical Psychology & Psychotherapy","journal_issn":"1063-3995","published_at":"2026-01-07T00:00:00.000Z","url":"https://doi.org/10.1002/cpp.70202","source_score":15,"is_retracted":false,"is_open_access":true,"raw_metadata":{"ooir":{"day":"2026-01-08","doi":"10.1002/cpp.70202","days":"14","issn":"1063-3995","rank":"9","field":"Clinical Medicine","score":"15","category":"Psychology, Clinical","categories":["Psychology, Clinical"],"_categories":["Psychology, Clinical"]},"pubmed":{"doi":"10.1002/cpp.70202","title":"Adapting Psychological Therapies for Individuals With Intellectual Disabilities: A Systematic Review.","journal":"Clinical psychology & psychotherapy","methods":"","results":"","abstract":"The aim of this systematic review was to identify how psychotherapies have been adapted to suit the needs of people with intellectual disabilities. A comprehensive literature search garnered 39,777 studies, which were screened for eligibility. Systematic searches, following PRISMA guidelines, identified 122 studies that met eligibility criteria, and findings were synthesised using framework synthesis. Six overarching adaptation categories were identified: (1) multisensory methods, (2) activities, (3) communication, (4) delivery medium, (5) additional support and (6) structure. Adaptations were primarily used to increase engagement, promote retention of information and improve communication between clients and clinicians. 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A comprehensive literature search garnered 39,777 studies, which were screened for eligibility. Systematic searches, following PRISMA guidelines, identified 122 studies that met eligibility criteria, and findings were synthesised using framework synthesis. Six overarching adaptation categories were identified: (1) multisensory methods, (2) activities, (3) communication, (4) delivery medium, (5) additional support and (6) structure. Adaptations were primarily used to increase engagement, promote retention of information and improve communication between clients and clinicians. 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Epilepsy and non-epilepsy deaths were more common in moderate-to-profound intellectual disability and African or Asian ethnicity (p<0.001); poor care quality, service gaps, and lack of annual health checks were risk factors (p<0.001), while psychiatry and speech and language therapy input was protective.","practice_takeaway":"For adults with intellectual disability and epilepsy, ensure annual health checks, address care quality and service gaps, and secure access to multidisciplinary care—particularly psychiatry and speech and language therapy—as these were associated with lower epilepsy-related mortality in this analysis."}}],"initialOffset":15,"fetchConfig":{"kind":"tags","tags":[{"tag_type":"condition","value":"Intellectual Disability"}]},"breadcrumbItems":[{"name":"Home","href":"/"},{"name":"Research Hub","href":"/hub"},{"name":"Conditions","href":"/hub/tag/condition"},{"name":"Intellectual Disability"}],"hrefConfig":{"basePath":"/hub/papers","webViewQueryParams":{"hub_ctx":"tag","hub_tag_type":"condition","hub_tag_value":"Intellectual Disability"}}}]]

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