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
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 42
- 试验地点
- 1
- 主要终点
- Total score from Child Behavior Checklist 6-18 (CBCL 6-18)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- Triple (Participant, Investigator, Outcomes Assessor)
盲法说明
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
入排标准
- 年龄范围
- 11 Years 至 39 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Treatment-first
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).
干预措施: Italian Tailored Online Problem-Solving (I-TOPS) (Behavioral)
Waiting-list-first
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).
干预措施: Italian Tailored Online Problem-Solving (I-TOPS) (Behavioral)
结局指标
主要结局
Total score from Child Behavior Checklist 6-18 (CBCL 6-18)
时间窗: 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).
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.
Total score from Adult Behavior Checklist 18-59 (ABCL 18-59)
时间窗: 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).
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.
次要结局
- 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).)
- Total score from Adult Self-Report 18-59 (ASR 18-59).(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)(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)(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)(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(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).)