[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"intellectual-developmental-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:intellectual-developmental-disorder":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,38,70,104,140],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":4},"100630786","high-depth-exome-sequencing-on-dna-from-a-salivary-sample-by-mouth-smear-100630786",false,"NCT07492199","High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.","Evaluation of the Diagnostic Performance of High-depth Exome Sequencing on DNA From a Salivary Sample by Oral Smear in the Etiological Assessment of Patients With a Syndromic Neurodevelopmental Disorder or an Intellectual Development Disorder and for Which the Sequencing of the Genome on Blood Has Proved Inconclusive.","SEPASA","Inclusion Criteria:\n\n* Patient with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD)\n* Trio genome sequencing on blood inconclusive\n* Men and women\n* All ages\n* No objection to participating in the study\n* Affiliation with a French social security system or beneficiary of such a system\n\nExclusion Criteria:\n\n* Pregnant women and nursing mothers\n* Persons deprived of their liberty by judicial or administrative decision; persons undergoing compulsory psychiatric care; persons admitted to a health or social care facility for purposes other than research\n* Subjects who are in the exclusion period of another study or listed in the \"national volunteer registry\"\n* Genetic cause identified in the preliminary etiological assessment\n* Phenocopy: other likely non-genetic cause of TND (perinatal anoxia, infection, trauma, etc.)\n* Patients without health insurance\n* Patients unlikely to cooperate with the study and\u002For anticipated low cooperation by the investigator","ALL",{"count":19,"type":20},50,"ESTIMATED","OBSERVATIONAL","Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups. However, identifying a precise etiological diagnosis is essential to optimize patient care, clarify their prognosis, consider targeted therapies, refer families to appropriate resources and support, and provide genetic counseling to relatives. The tests typically offered as part of the etiological assessment of syndromic NDDs and IDD include DNA microarray analysis, testing for fragile X syndrome and genome sequencing from a blood sample. When this assessment remains negative, the cause usually remains unknown.\n\nMosaic genomic abnormalities (or post-zygotic variations) are a common cause of negative results in current diagnostic genetic tests and represent a field of research that has yet to be fully explored outside of skin disorders. Identifying mosaic genomic abnormalities remains technically complex due to the difficulty of detecting low levels of mosaicism and limited access to the tissue of interest when the variation is absent from blood tissue.\n\nHigh-depth exome sequencing is the technique of choice for detecting low levels of mosaicism. In the case of NNDs, as the affected tissue is not available, the buccal epithelium is an interesting alternative to blood, as it is easily accessible and inexpensive.\n\nThe objective of our study is to evaluate the diagnostic yield of high-depth exome sequencing technology on a DNA extracted from a buccal swab in the etiological assessment of patients with IDD or syndromic NDD whose reference analysis (genome sequencing on blood) proved inconclusive.",[24,25],"Neurodevelopmental Disorders","Intellectual Developmental Disorder","NOT_YET_RECRUITING","2026-04-09",{"date":29,"type":30},"2026-04-14","ACTUAL",{"date":32,"type":20},"2026-04-01",{"date":34,"type":20},"2029-04-01",{"name":36,"class":37},"Centre Hospitalier Universitaire de Besancon","OTHER",{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":44,"eligibilityCriteria":45,"healthyVolunteers":46,"sex":17,"minAge":47,"maxAge":48,"enrollmentInfo":49,"targetDuration":4,"studyType":51,"phases":52,"briefSummary":54,"conditions":55,"keywords":56,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":69},"100616258","emotional-processes-in-adults-with-intellectual-developmental-disorder-100616258","NCT07303270","Emotional Processes in Adults With Intellectual Developmental Disorder","Assessing Emotional Processes in Adults With Intellectual Developmental Disorder Using the ACQUISS Battery","EmoTDI","Inclusion Criteria:\n\nIDD group :\n\n* Diagnosis of IDD according to DSM-V criteria\n* aged between 18 and 3 years\n* French speaking\n* Membership or entitlement to a social security plan\n* informed consent, or that of the tutor, to take part in the study\n* presence of a caregiver to complete the questionnaires at V2.\n\nControl group :\n\n* aged between 18 and 35 years\n* French speaking\n* Membership or entitlement to a social security plan\n* Informed written consent to take part in the study.\n\nExclusion Criteria:\n\nIDD group :\n\n* visual or auditory impairments, evaluated at V1\n* non stabilized epilepsy\n* undergoing treatments that can impact brain or psychological functioning\n* major motor disorders\n* breastfeeding or pregnant woman\n\nControl group :\n\n* neurodevelopmental or psychiatric disorder\n* history of brain trauma (TBI, stroke, etc…) or non-stabilized epilepsy\n* visual or auditory impairments, evaluated at V1\n* non stabilized epilepsy\n* undergoing treatments that can impact brain or psychological functioning\n* major motor disorders\n* breastfeeding or pregnant woman",true,"18 Years","35 Years",{"count":50,"type":20},60,"INTERVENTIONAL",[53],"NA","Emotions play a crucial part in the quality of life, interpersonal relationships and mental health in general. In adults presenting with intellectual developmental disorder (IDD), emotional abilities may be hindered, thus leading to more challenging behaviors. A better understanding of emotional processes of adults with IDD may help improve the efficiency of behavioral interventions and better improve their quality of life.\n\nThe primary goal of this study is to better characterize the abilities and weaknesses of adults with IDD concerning their emotional processes, in comparison to a healthy population. The secondary goals are :\n\n* to determine if these difficulties are underlined by oculomotor and attention (auditory and visual) processes\n* to determine if behavioral difficulties, as reported by the families of adults with IDD, are underlined by specific difficulties in facial emotion recognition, emotion identification in context and\u002For identification of vocal emotions.",[25],[25,57,58,59],"emotional processing","Cognitive assessments","Social cognition","RECRUITING","2026-03-31",{"date":32,"type":30},{"date":64,"type":30},"2026-02-19",{"date":66,"type":20},"2028-11-20",{"name":68,"class":37},"Hôpital le Vinatier",1,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":76,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":78,"enrollmentInfo":79,"targetDuration":4,"studyType":51,"phases":81,"briefSummary":82,"conditions":83,"keywords":87,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":100,"leadSponsor":102,"locationsCount":69},"100616164","impact-and-determinants-of-success-of-a-mobile-multidisciplinary-intervention-system-specialized-in-pain-management-for-patients-with-moderate-to-severe-intellectual-development-disorder-isolated-or-associated-with-an-asd-or-multiple-disability-100616164","NCT07302048","Impact and Determinants of Success of a Mobile Multidisciplinary Intervention System Specialized in Pain Management for Patients With Moderate to Severe Intellectual Development Disorder, Isolated or Associated With an ASD or Multiple Disability","Impact and Determinants of Success of a Mobile Multidisciplinary Intervention System Specialized in Pain Management for Patients With Moderate to Severe Intellectual Development Disorder, Isolated or Associated With an ASD or Multiple Disability - MoDIDol","MoDIDol","Inclusion Criteria:\n\n* Aged from birth up to 24 years inclusive (i.e., under 25 years old)\n* Medical diagnosis of intellectual disability (ID), isolated or associated with autism spectrum disorder (ASD), developmental disorder (DD), or profound multiple disabilities, based on international classification systems (ICD-11 or DSM-5)\n* Confirmed probable or definite pain diagnosis, as validated by the MoDIDol team\n* PGIC score ≥ 3\n* Living in or receiving care in the departments of Finistère, Côtes-d'Armor, or Morbihan\n* Written informed consent provided by parents, legal guardians, or holders of parental authority, authorizing data collection for research and publication purposes\n* Affiliated with or benefiting from a French national health insurance scheme\n\nExclusion Criteria:\n\n* More than three places of residence and\u002For care settings\n* Parents or legal guardians who do not have sufficient language or comprehension skills to provide informed consent or complete study questionnaires","24 Years",{"count":80,"type":20},80,[53],"Pain is described by patients with a Neurodevelopmental Disorder (NDD), including Autism Spectrum Disorder (ASD), Intellectual Development Disorder (IDD) or multiple disabilities, and the family as one of the main associated disorders; its management is also one of the main concerns of families and professionals. At present, there is no validated and tested pain management system in populations facing complex pain situations. In response to the lack of a pain management services, a multi-disciplinary mobile team was set up in September 2022 at the Brest University Hospital (Mobile Pain Handicap Team Intellectual Disability 0-25 years; MoDIDol). This team offers a specific protocol for the assessment and management of pain that takes into account the social and family environment, the living context and the clinical characteristics of patients (children, adolescents and young adults (0-25 years) with IDD, ASD or multiple disabilities). The team includes at least one paediatrician specialising in the assessment and treatment of pain and a nurse, and travels to patients' usual living environments.",[84,85,86,25],"Autism Disorder","Multiple Disabilities","Pain",[86,88,89,90,91,92,93,94],"Children","Adolescents","young adults","Intellectual Developmental Disability","Autism Spectrum Disorder","multiple disabilities","mobile team","2025-12-11",{"date":97,"type":30},"2025-12-24",{"date":99,"type":30},"2025-10-14",{"date":101,"type":20},"2028-04-20",{"name":103,"class":37},"University Hospital, Brest",{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":109,"acronym":110,"eligibilityCriteria":111,"healthyVolunteers":11,"sex":17,"minAge":112,"maxAge":113,"enrollmentInfo":114,"targetDuration":113,"studyType":21,"phases":4,"briefSummary":116,"conditions":117,"keywords":123,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":131,"lastUpdatePostDateStruct":132,"startDateStruct":134,"completionDateStruct":136,"leadSponsor":138,"locationsCount":69},"100603447","speech-of-kids-after-neonatal-encephalopathy-100603447","NCT07136636","Speech of Kids After Neonatal Encephalopathy","Investigating the Prognostic Accuracy of Different Biomarkers for Detection of Developmental Language Disorder in Children With Neonatal Encephalopathy","SANE","Children born between 2017 and 2023 with moderate to severe HIE, treated with therapeutic hypothermia at Semmelweis University Children's Hospital.\n\nInclusion criteria\n\n1. Born at ≥ 35th week of gestation\n2. Attended follow-up examinations at two years of age\n3. Has parental informed consent\n\nExclusion criteria\n\n1. Hearing loss\n2. Multilingual language environment\n3. Congenital abnormalities\n4. Metabolic disease\n5. Sudden unexpected postnatal collapse\n6. Brain injury not caused by HIE\n7. Severe motor impairment defined as a score \\\u003C70 on the psychomotor development index (PDI) at 2 years of age","0 Years","7 Years",{"count":115,"type":20},93,"The goal of this ambispective cohort study is to reveal the early indicators of delayed language development in children born with hypoxic-ischemic encephalopathy (HIE).\n\nWe will examine the prognostic accuracy of different biomarkers, with a special focus on the ADC values of the corpus callosum.\n\nThe main questions it aims to answer are:\n\n1. To what extent does hypoxic-ischemic encephalopathy (HIE) in infancy affect intellectual development (IQ), receptive and expressive language abilities at different levels of the language system, and memory capacities related to language development?\n2. What is the relationship between early biomarkers of brain injury-such as blood gas levels, lactate, aEEG, and MRI findings (Weeke scoring system, ADC values of the corpus callosum)-and long-term cognitive developmental outcomes?\n3. What is the incidence of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in this high-risk population of infants with HIE?\n4. Is there an association between the Weeke Total Score and long-term language developmental outcomes?\n5. Can restricted diffusion (ADC values) of the splenium of the corpus callosum serve as an early neuroradiological marker of developmental language disorder (DLD)?\n\nOur participants are children born between 2017 and 2023 with moderate to severe HIE, treated with therapeutic hypothermia at Semmelwies University Children's Hospital. During their first days of life, several neonatal measurements were taken (blood gas markers, aEEG etc.), and at day 4-5, they had an MRI scan of their brain. The MRI scans will be reanalyzed, using the Weeke MRI scoring system. These children underwent a neurodevelopmental follow-up at the age of 2 years and currently, they will have another follow-up at the age of 4-7 years.",[118,119,120,121,122,25],"HIE - Hypoxic - Ischemic Encephalopathy","Language Delay","Autism","ADHD - Attention Deficit Disorder With Hyperactivity","Specific Language Impairment",[118,124,125,126,127,128,129,130],"delayed language development","neurodevelopment","MRI","biomarker","corpus callosum diffusion restriction","IQ","newborn prediction tool","2025-08-14",{"date":133,"type":30},"2025-08-22",{"date":135,"type":30},"2025-04-01",{"date":137,"type":20},"2026-12",{"name":139,"class":37},"Semmelweis University",{"id":141,"slug":142,"hasResults":11,"nctId":143,"briefTitle":144,"officialTitle":145,"acronym":4,"eligibilityCriteria":146,"healthyVolunteers":11,"sex":17,"minAge":147,"maxAge":148,"enrollmentInfo":149,"targetDuration":4,"studyType":51,"phases":151,"briefSummary":152,"conditions":153,"keywords":156,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":169,"locationsCount":69},"100595755","easy-to-read-content-effectiveness-evaluation-100595755","NCT07036575","Easy-to-Read Content Effectiveness Evaluation","Integrated Program for Promoting Visual Health and Technological Applications for Individuals With Intellectual Disabilities","Inclusion Criteria:\n\n* Children and adolescents aged 3 to under 18\n* Children and adolescents with intellectual disabilities and developmental delays.\n* Children and adolescents who are able to correctly identify at least two out of the three images in the pre-assessment phase.\n\nExclusion Criteria:\n\n* Severe cognitive impairments, hearing impairments, speech disorders, or motor disabilities that would interfere with assessment procedures or participation in the instructional activities.","3 Years","17 Years",{"count":150,"type":20},250,[53],"Individuals with intellectual disabilities face challenges in accessing medical services and health education due to communication barriers and limited support tools. Traditional information delivery methods often fail to meet their needs, leading to unequal access to preventive care and early screening.\n\nThis integrated program aims to promote visual health among individuals with intellectual disabilities through the development and implementation of inclusive technologies. The program consists of three sub-projects:\n\n1. Visual Health Promotion and Development of an Inclusive Information Platform for Individuals with Intellectual Disabilities - developing accessible health materials for individuals with intellectual disabilities and their families.\n2. Development and Promotion of a Digital Visual Health Screening System for Individuals with Intellectual Disabilities - designed to support early detection and intervention tailored to this population.\n3. Development of a Healthcare Access Platform and Assistive Technologies for Individuals with Intellectual Disabilities - reducing communication barriers during medical visits through technological support.\n\nPreviously, our team developed and tested easy-to-read (ETR) materials with adults with intellectual disabilities, focusing on medical visits, eye diseases, and eye care. Once validated, these materials are planned to be adapted into digital versions and serve as the foundation for an online platform.\n\nTo evaluate the effectiveness of ETR content, we will conduct an experimental study with 250 children and adolescents with special needs from across Taipei and New Taipei City in Taiwan. Participants will receive different types of visual health education, and outcomes will be measured by improvements in their knowledge. This study aims to validate the impact of ETR resources in reducing health information inequality and improving visual health awareness in this underserved population.",[154,25,155],"Health Knowledge","Visual Impairment",[157,158,159,160,161,162],"Easy-to-Read","intellectal disability","children","special needs","visual impairment","vision health education","2025-06-17",{"date":165,"type":30},"2025-06-25",{"date":167,"type":20},"2025-06",{"date":137,"type":20},{"name":170,"class":37},"National Taiwan University Hospital"]