Group therapy study for teens with fragile X syndrome or autism

Trial details

Who runs it

Bambino Gesù Hospital and Research Institute

Trial code

NCT06677866

Record updated

8 November 2024

Original description

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.Read full original descriptionShow less

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

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.

Inclusion: 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; Informed consent for participation and data processing provided by parents. Exclusion Criteria; 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.

Exclusion: Changes in pharmacological therapy within the last 3 months; 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; Severe visual or hearing impairments; Participation in other non-pharmacological treatments; 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.

FXS group:.

ClinicalTrials.gov NCT06677866