I-TOPS With Patients With Genetic Syndrome SYN-TOPS
ConditionGenetic Syndrome
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age11-39
SponsorIRCCS Eugenio Medea
About this trial
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.
This 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/young adult and at least one parent, caregiver or legal guardian, as it is a family-centered program.
Participants 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/caregivers/guardians will also be evaluated.
The study aims to provide evidence for an accessible, scalable telehealth intervention to improve cognitive and behavioral outcomes in this underserved population.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Diagnosis of genetic syndrome
Age: 11 to 39 years and 11 months
Ownership of a personal computer and access to the Internet at home;
Basic computer literacy of the patient and/or family, sufficient to manage email, browse the Internet, use websites and conduct video-calls;
Disqualifiers
Presence of severe or profound intellectual disability;
Autism Spectrum Disorder, Level 3 (requiring very substantial support) based on DSM-5;
Presence of an acute psychiatric disorder.
Trial design
Design model
Parallel
Treatments tested in this trial
Italian Tailored Online Problem-Solving (I-TOPS)
BehavioralThe I-TOPS web-based platform is structured into 10 core sessions aimed at providing patients, on the one hand, with information about the effects of their neurological condition and, on the other, with support in learning and applying strategies for planning and organization, enhancement of social skills, and emotion regulation. The combination of patients' independent work on the platform and the online support sessions conducted by the therapist ensures that the intervention goes beyond the mere delivery of informational content and includes practical activities to be carried out in daily life. These activities are based on specific cognitive-behavioral strategies proposed by both the program and the therapist, with personalized support tailored to the patient's real-life context by the clinician (contextualization process).
Treatment groups
42 Participants
are divided into 2 treatment groupsGroup A: Treatment-firstExperimental treatment 1 intervention
Group B: Waiting-list-firstActive comparator 1 intervention
Trial outcomes
Primary outcomes
1
Total score from Child Behavior Checklist 6-18 (CBCL 6-18)
This measure will assess caregiver-reported psycho-behavioral adjustment for participants who are minors (CBCL 6-18). Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).2
Total score from Adult Behavior Checklist 18-59 (ABCL 18-59)
This measure will assess caregiver-reported psycho-behavioral adjustment for participants of legal age (ABCL 18-59). Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).Secondary outcomes
1
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-2 (BRIEF-2) -parent informant-report form
This measure is designed to assess behaviors related to executive functioning in the daily life of children and adolescents aged 5 to 18 years (BRIEF-2), based on parent/caregiver observations. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse performance.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).2
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-informant-report form.
This measure is designed to assess behaviors related to executive functioning in the daily life of adults aged 18 to 59 years (BRIEF-A), based on parent/caregiver/informant observations. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse performance.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).3
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function Second Edition (BRIEF 2)-self-report form
These measures assess executive functioning in daily life based on self-report by minors aged 11 to 18. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).4
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-self-report form
These measures assess executive functioning in daily life based on self-report by adults aged 18 to 59. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame
T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).Sponsors and contacts
Click on the lead sponsor to view all of their trials.
IRCCS Eugenio Medea
Lead sponsor
IRCCS Fondazione Don Carlo Gnocchi, Milano
Collaborator
Source ClinicalTrials.gov