I-TOPS With Patients With Genetic Syndrome SYN-TOPS

IRCCS Eugenio Medea

Status: Enrolling

Conditions: Genetic Syndrome

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

Study type: Interventional

Funder types: Other

Identifiers

NCT07563218

276/25

Details and patient eligibility

About

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.

Full description

Genetic syndromes involving the central nervous system often entail not only physical complications but also cognitive, communication, and behavioral difficulties that negatively affect quality of life and social participation. Executive functions-such as planning, organization, and behavioral regulation-are particularly vulnerable, and their impairment has significant consequences for adaptive functioning.

In recent years, cognitive and behavioral rehabilitation programs have increasingly incorporated remote delivery methods that leverage digital technologies to enhance treatment intensity and accessibility. However, evidence-based interventions specifically targeting higher-order cognitive functions and the psychological and behavioral difficulties associated with neurological conditions remain limited.

The present project aims to address this gap by adapting the Teen Online Problem-Solving (TOPS) program-an evidence-based, web-delivered intervention developed in the United States to improve everyday executive functioning in individuals with neurological conditions-for adolescents and young adults with genetic syndromes involving the central nervous system. TOPS is designed to enhance behavioral adjustment in daily life by providing a contextualized intervention focused on problem-solving, self-regulation, and communication skills within an ecological framework.

The TOPS program includes online sessions delivered through a dedicated web platform, which patients and their families complete independently at home. These sessions provide educational and informational materials, interviews exploring cognitive, psychological, and behavioral challenges associated with the individual's neurological condition, and video demonstrations illustrating problem-solving strategies relevant to situations commonly experienced as challenging by adolescents and young adults.

In addition, the intervention includes biweekly videoconference sessions conducted by a psychologist with expertise in cognitive-behavioral therapy. These sessions aim to monitor adherence to the program and completion of the online modules, support the application of executive-function-based strategies to real-life challenges, and promote the use of metacognitive techniques to strengthen self-monitoring and self-regulation.

In Italy, the dissemination of remote rehabilitation interventions remains limited, particularly for young individuals with neurological conditions, due to geographical barriers and restricted economic resources. Nonetheless, the growing interest in telemedicine is creating new opportunities for accessible and continuous care.

This multicenter study will evaluate the efficacy and feasibility of an adapted version of TOPS for patients with genetic syndromes involving the central nervous system, with the goal of improving cognitive, psychological, and behavioral functioning in the target population.

To assess efficacy, patients will undergo pre- and post-treatment evaluations of functioning, including performance-based measures and questionnaires completed by participants or their parents/guardians/caregivers, addressing psycho-behavioral adjustment and executive functioning, as well as the psychological well-being of parents/guardians/caregivers involved in the intervention.

The new Italian version of the TOPS program-adapted both for the target population and to include young adult participants-will be named Italian Tailored Online Problem Solving (I-TOPS). This designation preserves continuity with the original program while emphasizing, through the term Tailored, the evolution of the intervention toward a broader focus, an expanded age range, and increased opportunities for personalization.

Enrollment: 42 estimated patients

Sex: All

Ages: 11 to 39 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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.

Exclusion criteria

• 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

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Triple Blind

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42 participants in 2 patient groups

Treatment-first

Experimental group

Description:

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).

Treatment:

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

Waiting-list-first

Active Comparator group

Description:

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).

Treatment:

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