跳至主要内容
临床试验/NCT06677866
NCT06677866招募中不适用

Effectiveness of Cooperative Group Therapy in Adolescents With Fragile X Syndrome (FXS) and in Adolescents With Autism Spectrum Disorder (ASD)

Bambino Gesù Hospital and Research Institute2 个研究点 分布在 1 个国家目标入组 20 人开始时间: 2022年9月1日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
20
试验地点
2
主要终点
Global Clinical Impression - Severity Scale (CGI-S)

研究概览

简要总结

Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism Spectrum Disorder (ASD) due to a single gene-mutation. Many individuals with FXS exhibit symptoms overlapping with those of ASD, including difficulties in social-communication skills, challenges in peer relationships, restricted and repetitive behaviors/interests and deficits in adaptive functioning. Both in ASD and FXS, individuals with greater deficits in executive functions, socio-pragmatic, and socio-relational skills also demonstrate lower adaptive functioning and, consequently, reduced autonomy/independence throughout the life course and greater severity of the disorder.

Among empirically validated treatments recommended by National and International Guidelines for the treatment of ASD, cognitive-behavioral and psychosocial interventions have been shown to improve some aspects of ASD, such as core symptoms, emotional-behavioral disturbances, adaptive skills, and quality of life. Currently, it appears that cognitive-behavioral therapies, which include psychoeducation programs, are particularly appropriate for ASD, with greater efficacy for group interventions compared to individual ones. Regarding FXS, despite the well-established knowledge of the cognitive-behavioral phenotype and the clear need for scientifically validated programs, research on intervention strategies remains quite limited.

Considering the similarities between ASD and FXS and the need for standardized interventions, the present research project aims to conduct an RCT to evaluate the feasibility of Cooperative Group Therapy (CGT) in two different groups of adolescents with ASD and FXS. The decision to target the intervention to adolescents is due to the few clinical studies on this age group, which is a crucial target since, in FXS, there is often a plateau or reversal of intellectual and adaptive development after the age of 10, and in adolescents with ASD, the development and complexity of social, pragmatic skills, and executive functions are crucial for good adaptive functioning and a basic quality of life. Te main hypothesis is that CGT could contribute to the reduction of severity illness and in the enhancement of socio-communicative skills.

详细描述

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder affecting approximately 1% of the global population, characterized by early onset, difficulties in communication and reciprocal social interaction, and associated with unusually restricted and repetitive behaviors and interests.

Fragile X Syndrome (FXS) is a rare genetic syndrome affecting about 1 in 4.,000 males and 1 in 8.,000 females, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of ASD due to a mutation in a single gene.

Research shows that many individuals with FXS exhibit symptoms overlapping with those of ASD, including difficulties in social-communication skills, challenges in peer relationships, restricted and repetitive behaviors/interests, and deficits in adaptive functioning. In both syndromes, individuals with greater deficits in executive functions, socio-pragmatic, and socio-relational skills also demonstrate lower adaptive functioning and, consequently, reduced autonomy/independence throughout the life course and greater severity of the disorder.

Among empirically validated treatments recommended by National and International Guidelines for the Treatment of Autism, cognitive-behavioral and psychosocial interventions have been shown to improve some aspects of ASD, such as core symptoms, emotional-behavioral disturbances, adaptive skills, and quality of life. Currently, it appears that cognitive-behavioral therapies, which include psychoeducation programs, are particularly appropriate for ASD, with greater efficacy for group interventions compared to individual ones. However, a very recent meta-analysis of Conrad and colleagues (2021) highlighted that there are currently only 30 RCTs (Randomized Clinical Trials) on ASD and that most of these studies have been conducted in a limited geographical area, with few studies in Europe. Regarding FXS, despite the well-established knowledge of the cognitive-behavioral phenotype and the clear need for scientifically validated programs, research on intervention strategies remains quite limited. In a 2011 systematic review, Moskowitz and Carr analyzed 31 studies investigating the effectiveness of behavioral treatment in FXS and pointed out that most of them were conducted with limited methodological rigor. Indeed, their review revealed that the examined interventions employed various behavioral strategies, often using a single patient per technique, making it difficult to draw conclusions about individual techniques. The lack of empirically validated cognitive-behavioral intervention models remains a significant issue for all clinicians working with individuals with FXS and ASD. Consequently, parents continue to rely on intervention methods whose clinical effectiveness has not been tested, monitored, or replicated through studies with valid methodological rigor. As a result, there is an undeniable need to develop new interventions: a) conducted with methodological rigor (RCTs), b) applicable across different age groups, and c) structured, empirically measurable, and replicable.

In 2020, Valeri and colleagues conducted the first European RCT to assess the clinical effectiveness of Cooperative Parent-Mediated Therapy (CPMT) in preschool children with Autism, showing that CPMT is effective in improving socio-communication skills, core ASD symptoms, and in reducing parental stress related to dysfunctional parent-child interactions.

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
Double (Investigator, Outcomes Assessor)

盲法说明

The study is conducted by four main professionals: the neuropsychiatrist principal investigator (Dr. Paolo Alfieri) responsible for the FXS treatment group; the neuropsychiatrist (Dr. Giovanni Valeri) responsible for the ASD treatment group; the cognitive behavioral therapist performing the intervention with the FXS treatment group (Dr. Alice Federica Maria Montanaro) and the cognitive behavioral therapist performing the intervention with the ASD treatment group (Dr. Laura Casula).

The two neuropsychiatrists conducting the clinical evaluation of the severity of the disorder and the presence of changes following the intervention (using the CGI-S scale) remain blind to treatment allocation during the trial and analyses until the conclusion of the study. Furthermore, the evaluating psychologists (who are different from the two therapists performing the intervention) and a speech therapist perform blinded assessments at T0-T1-T2.

入排标准

年龄范围
13 Years 至 19 Years(Child, Adult)
性别
All
接受健康志愿者

入选标准

  • Inclusion Criteria
  • Clinical diagnosis of FXS confirmed by genetic testing.
  • Age between 13 and 19 years.
  • Language skills compatible with group intervention (verbal language at sentence level).
  • Impairment in adaptive functioning measured by VABS II <
  • Informed consent for participation and data processing provided by parents.

排除标准

  • Severe visual or hearing impairments.
  • Diagnosis of epilepsy or a history of seizures requiring medication.
  • Participation in other non-pharmacological treatments.
  • Changes in pharmacological therapy within the last 3 months.
  • Presence of medical problems or behaviors that could interfere with group activities, as measured by the Autism Behavior Checklist (ABC) (ABC Irritability Scale < 18).
  • IQ < 40 measured by the Leiter third edition (Leiter 3)
  • Severe adaptive functioning, measured by VABS II <
  • Inclusion Criteria
  • Clinical diagnosis of Autism Spectrum Disorder (ASD) confirmed by ADOS-2 and ADI-R interviews.
  • Age between 13 and 19 years.
  • Language skills compatible with group intervention (verbal language at sentence level).
  • Impairment in adaptive functioning measured by VABS II <
  • Informed consent for participation and data processing provided by parents.
  • Exclusion Criteria
  • Severe visual or hearing impairments.
  • Identification of specific genetic abnormalities or presence of known genetic syndromes associated with ASD (e.g., TSC, FXS, 22q11, 16p11.2, Rett Syndrome).
  • Diagnosis of epilepsy or a history of seizures requiring medication.
  • Participation in other non-pharmacological treatments.
  • Changes in pharmacological therapy within the last 3 months.
  • Presence of medical problems or behaviors that could interfere with group activities, as measured by the Autism Behavior Checklist (ABC) (ABC Irritability Scale < 18).
  • IQ < 40 measured by the Leiter third edition (Leiter 3)
  • Severe adaptive functioning, measured by VABS II < 20.

结局指标

主要结局

Global Clinical Impression - Severity Scale (CGI-S)

时间窗: 6 months

- Clinical improvement: Clinical Global Impression - Severity scale Clinical Global Impression - Severity scale is a 7-point scale used to measure baseline severity of patients (Higher scores indicate more severe patient)

次要结局

  • Clinical Global Impression - Improvement scale (CGI-I)(6 months)
  • Child Behavior Checklist 6-18 (CBCL 6-18)(6 months)
  • Total Scale and the Subdomains of the Vineland Adaptive Behavior Scales, Second Edition (VABS-II)(6 months)
  • Parenting Stress Index Short Form (PSI- SF)(6 months)
  • Pediatric Quality of Life- Family Impacts(6 months)
  • Multidimensional Anxiety Scale for Children-II (MASC-II)(6 months)
  • Conners' Parent Rating Scale (CPRS)(6 months)
  • Social Responsiveness Scale (SRS)(6 months)
  • Behavior Rating Inventory of Executive Functioning second edition (BRIEF II)(6 months)
  • Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (KSADS-PL)(6 months)
  • Children's Global Assessment Scale(6 months)
  • Children's Communication Checklist - Second Edition (CCC-2)(6 months)

研究者

发起方
Bambino Gesù Hospital and Research Institute
申办方类型
Other
责任方
Principal Investigator
主要研究者

Paolo Alfieri

medical doctor

Bambino Gesù Hospital and Research Institute

研究点 (2)

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