[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,48,84],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100636248","i-tops-with-patients-with-genetic-syndrome-syn-tops-100636248",false,"NCT07563218","I-TOPS With Patients With Genetic Syndrome SYN-TOPS","SYN-TOPS: A Multicenter Randomized Clinical Trial on the Use of the I-TOPS Intervention to Improve Adaptive Skills in Adolescents and Young Adults With Genetic Syndromes","SYN-TOPS","Inclusion Criteria:\n\n* Diagnosis of genetic syndrome\n* Age: 11 to 39 years and 11 months\n* Ownership of a personal computer and access to the Internet at home;\n* Basic computer literacy of the patient and\u002For family, sufficient to manage email, browse the Internet, use websites and conduct video-calls;\n* Presence of at least one parent, caregiver or guardian living with the patient who is available to participate in the intervention.\n\nExclusion Criteria:\n\n* Presence of severe or profound intellectual disability;\n* Autism Spectrum Disorder, Level 3 (requiring very substantial support) based on DSM-5;\n* Presence of an acute psychiatric disorder.","ALL","11 Years","39 Years",{"count":21,"type":22},42,"ESTIMATED","INTERVENTIONAL",[25],"NA","Genetic syndromes involving the central nervous system are often associated with cognitive, behavioral and communication difficulties that negatively impact adaptive functioning and quality of life. Despite advances in digital health, there remains a lack of evidence-based interventions targeting executive functions and psychosocial outcomes in this population.\n\nThis multicenter study aims to evaluate the feasibility and efficacy of an adapted version of the Teen Online Problem-Solving (TOPS) program, a web-based intervention designed to enhance problem-solving, self-regulation and communication skills in everyday contexts. The adapted intervention (I-TOPS) will be tailored for adolescents and young adults with genetic syndromes involving the central nervous system. The I-TOPS intervention requires the participation of both the adolescent\u002Fyoung adult and at least one parent, caregiver or legal guardian, as it is a family-centered program.\n\nParticipants will complete online modules at home, supported by bimonthly videoconference sessions with a cognitive-behavioral psychologist. Outcomes will be assessed through pre- and post-intervention measures of executive functioning, adaptive behavior and psychological well-being, reported by both participants and caregivers. Psychological well-being of participating parents\u002Fcaregivers\u002Fguardians will also be evaluated.\n\nThe study aims to provide evidence for an accessible, scalable telehealth intervention to improve cognitive and behavioral outcomes in this underserved population.",[28],"Genetic Syndrome",[30,31,32,33,34],"executive functions","social skills","adaptive skills","telerehabilitation","rehabilitation","RECRUITING","2026-04-24",{"date":38,"type":39},"2026-05-01","ACTUAL",{"date":41,"type":39},"2026-02-18",{"date":43,"type":22},"2028-02-17",{"name":45,"class":46},"IRCCS Eugenio Medea","OTHER",1,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":54,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":17,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":23,"phases":60,"briefSummary":61,"conditions":62,"keywords":67,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":83},"100567329","speech-therapy-and-parenting-for-early-socio-communicative-skills-100567329","NCT06666777","Speech Therapy and Parenting for Early Socio-communicAtive sKills","Speech Therapy and Parenting for Early Socio-communicative Skills in Children With Neurodevelopmental Disabilities","SPEAK","Inclusion criteria:\n\nFor children:\n\n* Age between 6 months (corrected age in cases of prematurity) and 5 years.\n* Documented developmental delay and\u002For socio-communicative difficulties, based on clinical signs or standardized developmental scales (e.g., Griffiths Scales).\n* Mental age of at least 6 months.\n* Diagnosis of neurodevelopmental disability, including cerebral palsy, genetic syndromes, rare diseases with non-progressive neurological impairments, or congenital disorders of undetermined nature.\n\nFor parents:\n\n* Adult age (≥ 18 yo)\n* Good knowledge and fluency in Italian.\n* No manifest psychiatric conditions.\n* No documented intellectual disability.\n\nExclusion criteria:\n\nFor children:\n\n* Age greater than 5 years at the time of recruitment.\n* Mental age below 6 months.\n* Absence of developmental delay (developmental quotient \\> 85) and socio-communicative difficulties.\n* Diagnosis of neurodevelopmental disability resulting from neurodegenerative diseases or brain tumor outcomes.\n* Severe sensory impairments (profound deafness and\u002For blindness).\n\nFor Parents:\n\n* Inability to speak Italian.\n* Documented psychiatric conditions or intellectual disability.","6 Months","59 Months",{"count":59,"type":22},60,[25],"Every year, millions of children are diagnosed with neurodevelopmental disabilities. This term covers a wide range of conditions, from genetic syndromes to brain injuries such as cerebral palsy. Children with neurodevelopmental disabilities often struggle in multiple areas, including language development. While standard speech therapy mainly focuses on understanding and producing words, these children may also have difficulties with the social and communicative skills needed for language. The parent-child relationship is especially important for helping kids develop in their early years.\n\nThis clinical trial aims to find out if an intervention focused on early social and communication skills, and involving parents, can help children with neurodevelopmental disabilities. The study includes children aged 6 months to 5 years. It seeks to answer two key questions:\n\n* Does this intervention improve social and communication skills better than standard speech therapy?\n* Does this intervention affect how parents interact with their child?\n\nTo find the answers, the study will compare two groups: one group will get the parent-involved intervention that focuses on early communication skills, while the other group will get standard speech therapy.\n\nIn the first intervention, therapists will guide parents in observing and supporting their child's social and communication behaviors during various activities like playtime and snack time. In contrast, the standard speech therapy will focus on traditional goals, such as improving the child's ability to vocalize, understand, and use words, without involving parents.\n\nBoth interventions will follow the same schedule-eight weekly sessions, each lasting 45 minutes, over two months.\n\nBefore and after the interventions, the children and parents will:\n\n* Have an assessment of the child's language, social, and communication development.\n* Participate in a 10-minute video recording of parent-child playtime, which will be used to study parenting behavior.",[63,28,64,65,66],"Neurological Impairments","Neurodevelopmental Disability","Developmental Delays","Language Development Disorders",[68,69,70,71,72,73,74],"Socio-communicative skills","early intervention","Speech therapy","Parenting","Parental support","Intersubjectivity","Neurodevelopmental disabilities","2025-11-18",{"date":77,"type":39},"2025-11-24",{"date":79,"type":39},"2025-03-19",{"date":81,"type":22},"2026-09-01",{"name":45,"class":46},9,{"id":85,"slug":86,"hasResults":11,"nctId":87,"briefTitle":88,"officialTitle":89,"acronym":4,"eligibilityCriteria":90,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":91,"enrollmentInfo":92,"targetDuration":4,"studyType":94,"phases":4,"briefSummary":95,"conditions":96,"keywords":98,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":105,"lastUpdatePostDateStruct":106,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":47},"100320986","diagnostic-odyssey-whole-genome-sequencing-wgs-100320986","NCT03458962","Diagnostic Odyssey: Whole Genome Sequencing (WGS)","Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children","Inclusion Criteria:\n\n* Symptomatic male or female children ages 0-21 who have un unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.\n* Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.\n* Patient whose medical condition can be reasonably attributed to a possible genetic etiology.\n* Patient have had at least one diagnostic test without a definite diagnosis.\n\nExclusion Criteria:\n\n* Unwillingness to consent to research.\n* Affected adults (\\>21 years of age), unless they are a biological relative of the affected child.\n* Any patient whose medical condition cannot be reasonably attributed to a possible genetic etiology or there is a prior diagnosis that explains the child's clinical presentation.","21 Years",{"count":93,"type":22},1000,"OBSERVATIONAL","The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and\u002For multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.",[97,28],"Genetic Disease",[99,100,101,102,103,104],"Nicklaus Children's","Pediatric","Genomic","Precision Medicine","Biorepository","Rady Children's","2024-11-06",{"date":107,"type":39},"2024-11-07",{"date":109,"type":39},"2018-02-20",{"date":111,"type":22},"2070-03",{"name":113,"class":46},"Nicklaus Children's Hospital f\u002Fk\u002Fa Miami Children's Hospital"]