I-TOPS With Patients With Genetic Syndrome SYN-TOPS

NCT07563218 | Recruiting DMC

• 1 other identifier: 276/25
• Study Type: interventional
• Target: 42
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Genetic Syndrome

Keywords

executive functions; social skills; adaptive skills; telerehabilitation; rehabilitation

Outcome Measures

Primary Outcomes (2)

• 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.

  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).

• 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.

  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 (10)

• Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-2 (BRIEF-2) -parent informant-report form

  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).

• Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-informant-report form.

  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).

• Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function Second Edition (BRIEF 2)-self-report form

  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).

• Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-self-report form

  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).

• Total score from Youth Self-Report 11-18 (YSR 11-18)

  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).

Study Arms (2)

Treatment-first

EXPERIMENTAL

Participants assigned to this arm will receive the I-TOPS intervention, a combined web-based and telehealth program. The intervention includes two integrated components: (1) a digital platform through which patients independently complete structured psychoeducational activities (e.g., informational materials on neurological conditions and video-based problem-solving strategies for everyday situations), and (2) scheduled telemedicine sessions delivered by a psychologist trained in cognitive-behavioral therapy and experienced in neuropsychological rehabilitation. These sessions provide clinical guidance, monitor adherence, and support the application of learned strategies to daily life. The intervention is designed to integrate psychoeducation with cognitive-behavioral and neuropsychological rehabilitation principles. Participants will undergo assessments at three time points: T0 (baseline, prior to treatment), T1 (immediately post-treatment) and T2 (six-month post-treatment follow-up).

Behavioral: Italian Tailored Online Problem-Solving (I-TOPS)

Waiting-list-first

ACTIVE COMPARATOR

Participants assigned to this arm will receive the I-TOPS intervention after a waiting-list period corresponding to the treatment period of Group 1 (experimental group). Participants will undergo assessments at three time points: T0 (baseline, prior to the waiting-list period), T1 (immediately after the waiting-list period), and T2 (immediately post-treatment).

Behavioral: Italian Tailored Online Problem-Solving (I-TOPS)

Interventions

Italian Tailored Online Problem-Solving (I-TOPS) BEHAVIORAL

The 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-first; Waiting-list-first

Eligibility Criteria

• Age: 11 Years - 39 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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;
• Presence of at least one parent, caregiver or guardian living with the patient who is available to participate in the intervention.

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS Fondazione Don Carlo Gnocchi, Milano: collaborator
• IRCCS Eugenio Medea: lead

Study Sites (1)

Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy

Bosisio Parini, Lecco, 23842, Italy

RECRUITING

Related Publications (7)

• Wade SL, Jones KM, Corti C, Adlam AR, Limond J, Bardoni A, Gies LM. Adapting intervention approaches to new contexts: Three case studies of international adaptation of the Teen Online Problem Solving (TOPS) program. Rehabil Psychol. 2021 Nov;66(4):356-365. doi: 10.1037/rep0000414.

  PMID: 34871027 BACKGROUND

• Corti C, Papini M, Strazzer S, Borgatti R, Romaniello R, Poggi G, Storm FA, Urgesi C, Jansari A, Wade SL, Bardoni A. Examining the Implementation of the Italian Version of the Teen Online Problem-Solving Program Coupled With Remote Psychological Support: Protocol for a Randomized Controlled Trial. JMIR Res Protoc. 2025 Feb 21;14:e64178. doi: 10.2196/64178.

  PMID: 39984161 BACKGROUND

• Wade SL, Walsh K, Slomine BS, Davis KC, Heard C, Maggard B, Sutcliffe M, Van Tubbergen M, McNally K, Deidrick K, Kirkwood MW, Lantagne A, Ashman S, Scratch S, Chesley G, Johnson-Kerner B, Johnson A, Cirincione L, Austin C. Widespread clinical implementation of the teen online problem-solving program: Progress, barriers, and lessons learned. Front Rehabil Sci. 2023 Feb 7;3:1089079. doi: 10.3389/fresc.2022.1089079. eCollection 2022.

  PMID: 36824180 BACKGROUND

• Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D. Cognitive, adaptive, and behavioral features in Joubert syndrome. Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17.

  PMID: 27530364 BACKGROUND

• Tavano A, Borgatti R. Evidence for a link among cognition, language and emotion in cerebellar malformations. Cortex. 2010 Jul-Aug;46(7):907-18. doi: 10.1016/j.cortex.2009.07.017. Epub 2009 Sep 16.

  PMID: 19857864 BACKGROUND

• Butti N, Urgesi C, Mussa A, Montirosso R. Cognitive, Social, and Emotional-Behavioral Outcomes in Children and Adolescents With Beckwith-Wiedemann Syndrome. Am J Med Genet B Neuropsychiatr Genet. 2025 Mar;198(2):e33006. doi: 10.1002/ajmg.b.33006. Epub 2024 Sep 25.

  PMID: 39320140 BACKGROUND

• Butti N, Urgesi C, Alfieri P, Priolo M, Montirosso R. Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome. Children (Basel). 2025 Jan 27;12(2):147. doi: 10.3390/children12020147.

  PMID: 40003249 BACKGROUND

MeSH Terms

Conditions

Genetic Diseases, Inborn; Social Skills

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Social Behavior; Behavior

Central Study Contacts

Claudia Corti, PsyD; PhD

CONTACT

+39031877111; claudia.corti@lanostrafamiglia.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: The randomization list will be generated by an Institute researcher who is independent from the study team and will be provided exclusively to the psychotherapist responsible for conducting the remote sessions with patients and families. After completing each patient's baseline assessment (T0), the psychotherapist will contact the patient's parents (for minors) or the patient (for adults) via Google Meet to explain the subsequent study phases according to the assigned condition. Consequently, only the psychotherapist and the independent researcher will have access to treatment allocation. The psychotherapist will be specifically instructed not to disclose allocation information to any other member of the research team and to maintain a strict separation of roles, facilitated by their position as an external consultant. All other study personnel-including research team members, participants and their parents/guardians/caregivers, test administrators, and the statistician conducting th
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2026
• First Posted: May 1, 2026
• Study Start: February 18, 2026
• Primary Completion (Estimated): February 17, 2027
• Study Completion (Estimated): February 17, 2028
• Last Updated: May 1, 2026

Record last verified: 2026-04

Locations

IT (1)