Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder

NCT06677866 | Recruiting

• 1 other identifier: 2850_OPBG_2022
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fragile X Syndrome (FXS); Autism Spectrum Disorder

Keywords

intellectual disability; adaptive functioning; quality of life; rare genetic syndrome; Cognitive Behavioral Therapy; CBT; fragile x syndrome; autism spectrum disorder; neuropsychology

Outcome Measures

Primary Outcomes (1)

• Global Clinical Impression - Severity Scale (CGI-S)

  \- 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)

  6 months

Secondary Outcomes (12)

• 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

Study Arms (4)

ASD-CGT- Treatment group (ASD-CGT)

EXPERIMENTAL

Group of adolescents with ASD that perform the intervention at the beginning of the study (ASD-CGT)

Behavioral: Cognitive behavioral therapy

FXS- Waiting List group (FXS-WL)

OTHER

Group of adolescents with FXS that perform the intervention once that the sections with the first group are ended (FXS-WL)

Other: Waiting List

FXS- CGT- Treatment group (FXS-CGT)

EXPERIMENTAL

Group of adolescents with FXS that perform the intervention at the beginning of the study (FXS-CGT)

Behavioral: Cognitive behavioral therapy

ASD- Waiting List group (ASD-WL)

OTHER

Group of adolescents with ASD that perform the intervention once that the sections with the first group are ended (ASD-WL)

Other: Waiting List

Interventions

Cognitive behavioral therapy BEHAVIORAL

Cooperative Group Therapy (CGT) is a cognitive-behavioral group therapy based on the theoretical and practical principles of the Cooperative Parent-Mediated Therapy model \[Valeri et al., 2020\]. The goal of CGT is to promote the following core skills: Pragmatics, Executive Functions, and Cooperative Interactions. The CGT program consists of 15 sessions over a total duration of 6 months: 12 group therapy sessions with adolescents and 3 sessions with their parents. Each session focuses on a specific topic and lasts between 90 and 120 minutes. The CGT therapist is a psychotherapist with a cognitive-behavioral orientation who utilizes evidence.-based strategies to enhance pragmatic, socio-conversational skills, cognitive flexibility, emotional regulation, and cooperative interactions. The CGT intervention is conducted by two cognitive-behavioral psychotherapists specialized respectively in the treatment of FXS and ASD.

ASD-CGT- Treatment group (ASD-CGT); FXS- CGT- Treatment group (FXS-CGT)

Waiting List OTHER

The Waiting List (WL) is a control group in which participants who do not receive the experimental treatment are placed on a waiting list to receive the intervention after the active treatment group has completed it. In the case of the WL, the CGT intervention is carried out after at least 6 months to allow the patients in the first group to complete the treatment cycle. This approach enables a comparison between a group of treated patients and a group of patients who have not yet been treated, while still allowing the latter to access the treatment at a later stage.

ASD- Waiting List group (ASD-WL); FXS- Waiting List group (FXS-WL)

Eligibility Criteria

• Age: 13 Years - 19 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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 \< 70.

You may not qualify if:

• 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 \< 20.
• ASD group:
• 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 \< 70.
• Informed consent for participation and data processing provided by parents.
• 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).

Sponsors & Collaborators

• Bambino Gesù Hospital and Research Institute: lead

Study Sites (1)

Bambino Gesù Children's Hospital

Rome, 00165, Italy

RECRUITING

Related Publications (3)

• Valeri G, Casula L, Menghini D, Amendola FA, Napoli E, Pasqualetti P, Vicari S. Cooperative parent-mediated therapy for Italian preschool children with autism spectrum disorder: a randomized controlled trial. Eur Child Adolesc Psychiatry. 2020 Jul;29(7):935-946. doi: 10.1007/s00787-019-01395-5. Epub 2019 Sep 23.

  PMID: 31549310 RESULT

• Alfieri P, Scibelli F, Casula L, Piga S, Napoli E, Valeri G, Vicari S. Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data. Brain Sci. 2021 Dec 23;12(1):8. doi: 10.3390/brainsci12010008.

  PMID: 35053752 RESULT

• Montanaro FAM, Alfieri P, Caciolo C, Spano G, Bosco A, Vicari S. Effects of a combined neuropsychological and cognitive behavioral group therapy on young adults with Fragile X Syndrome: An explorative study. Res Dev Disabil. 2024 Nov;154:104839. doi: 10.1016/j.ridd.2024.104839. Epub 2024 Sep 26.

  PMID: 39332280 RESULT

MeSH Terms

Conditions

Fragile X Syndrome; Autism Spectrum Disorder; Intellectual Disability

Interventions

Cognitive Behavioral Therapy; Waiting Lists

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Behavior Therapy; Psychotherapy; Behavioral Disciplines and Activities; Appointments and Schedules; Organization and Administration; Health Services Administration

Study Officials

• Paolo Alfieri, MD, PhD

  Bambino Gesù Children's Hospital

  PRINCIPAL INVESTIGATOR

• Stefano Vicari, MD, clinical professor

  Bambino Gesù Hospital and Research Institute

  STUDY CHAIR

Central Study Contacts

Alice Federica M Montanaro, PsyD

CONTACT

06/68597009; federica.montanaro@opbg.net

Paolo Alfieri, MD, PhD

CONTACT

06/685974721; paolo.alfieri@opbg.net

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: 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.
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: medical doctor

Study Record Dates

• First Submitted: October 23, 2024
• First Posted: November 7, 2024
• Study Start: September 1, 2022
• Primary Completion: September 15, 2024
• Study Completion: December 31, 2025
• Last Updated: November 8, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)