I-TOPS With Patients With Genetic Syndrome SYN-TOPS

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.

• Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-2 (BRIEF-2) -parent informant-report form [Срок оценки: 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. [Срок оценки: 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 [Срок оценки: 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 [Срок оценки: 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) [Срок оценки: 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 Self-Report 18-59 (ASR 18-59). [Срок оценки: 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 Severity Index (GSI) from Symptom Checklist-90 (SCL-90) [Срок оценки: 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 Beck Anxiety Inventory (BAI) [Срок оценки: 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).]
• Coping Orientation to the Problems Experienced-Nuova Versione Italiana [New Italian Version] (COPE-NVI) [Срок оценки: 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).]
• Batteria di Cognizione Sociale [Battery on Social Cognition] by Prior, Sartori and Marchi [Срок оценки: 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).]