Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome

NCT04610424 | Unknown DMC

• 1 other identifier: 1324_OPBG_2017
• Study Type: interventional
• Target: 14
• Locations: 1 country
• Sites: 1

Brief Summary

Fragile X Syndrome (FXS) and Williams-Beuren Syndrome (WBS) are relatively rare disorders characterized by developmental delay associated to socio-communicative deficit and autistic-like behaviours. WBS has been considered for a long time as the "polar opposite" of ASD, given their hypersociable phenotype. Nonetheless, recent researches have emphasized similarities between ASD and WBS phenotypes. By following some authors "social abnormalities in ASD and WS can be characterized in terms of analogous difficulties in social cognition), and distinct patterns of social motivation which appears to be reduced in ASD and enhanced in WBS". More than opposite condition, these authors suggests that WBS and ASD could share the same difficult in comprehension of social relationship, with opposite pattern of social engagement (enhanced in WBS and weakened ASD). Given, these similarities authors suggest testing the feasibility and validity of therapy for ASD in children with WBS. Parent Mediated Therapy (PMT) is a group of "technique-focused interventions where the parent is the agent of change and the child is the direct beneficiary of treatment". PMT demonstrated evidence of effectiveness in socio-communicational improvement for children with ASD in a randomized controlled trial (RCT). Some recent researchers have extended the use of PMT to children with genetic disorders and autistic features, such as FXS. While showing encouraging results, the samples of research were limited. They main aim of this research is to to verify effectiveness of Cooperative PMT (CMPT) for socio-communicative deficit in children with FXS and WBS. Our hypothesis is that CPMT, in addition to conventional rehabilitation therapies (mainly speech therapy and occupational therapies), could contribute to the enhancement of socio-communicative skills and the reduction of behavioural problems. We also expected also an improvement in family quality of life and a reduction of parental stress.

Conditions

Fragile X Syndrome; Williams Syndrome

Outcome Measures

Primary Outcomes (7)

• Joint attention

  Joint attention score from ESCS assessment. Score expressed in percentage of behavior/number of occasion (from 0% to 100%). Higher scores indicate better functioning

  6 months

• Assertivity

  Assertivity as measured by Skills Socio-Conversational of the Child. Scores from 1 to 5 (Higher scores indicate better functioning)

  6 months

• Responsivity

  Assertivity as measured by Skills Socio-Conversational of the Child. Scores from 1 to 5 (Higher scores indicate better functioning)

  6 months

• Expressive language (Word)

  Expressive language as measured by word production scale of Primo vocabolario del bambino (from 0 to 408). higher raw scores indicate higher level of language

  6 months

• Expressive language (Gestures)

  Expressive language as measured by gestures production scale of Primo vocabolario del bambino (from 0 to 63). higher raw scores indicate higher level of language

  6 months

• Receptive Language (Word)

  Receptive language as measured word comprehension scale of Primo vocabolario del bambino (from 0 to 408). higher raw scores indicate higher level of language

  6 months

• Receptive Language (Sentences)

  Receptive language as measured by sentence comprehension scale of Primo vocabolario del bambino (from 0 to 28). higher raw scores indicate higher level of language

  6 months

Secondary Outcomes (13)

• Behavioral and emotional problem

  6 months

• Change in Adaptive Level (Vineland Adaptive Behavior Scales, Second Edition)

  6 months

• Clinical improvement: Clinical Global Impression - Severity scale

  6 months

• Clinical Global Impression - Improvement scale (CGI-I)

  6 months

• Cognitive/developmental Level

  6 months

Study Arms (2)

Cooperative Parent Mediated Therapy

EXPERIMENTAL

Cooperative Parent Mediated Therapy" (CPMT) is a targeted parent-mediated intervention focused on the ASD core symptoms (Bearss et al., 2015). CPMT is based on the most significant models of parent training for ASD, in the perspective of Naturalistic Developmental Behavioral Interventions-NDBI with specific attention to the promotion of cooperative interactions (Schreibman et al., 2016). The aim of CPMT is to improve parental skills, to enable parents promoting the following seven target skills in their child: socio-emotional engagement, emotional regulation, imitation, communication, joint attention, play and cognitive flexibility and cooperative interaction. An individualized treatment plan is designed for each child in order to determine his developmental level and treatment goals (Valeri et al., 2019).

Behavioral: Cooperative Parent Mediated Therapy" (CPMT); Behavioral: As usual

Control

ACTIVE COMPARATOR

Control group

Behavioral: As usual

Interventions

Cooperative Parent Mediated Therapy" (CPMT) BEHAVIORAL

CMPT usually last 6 months, for a total amount of 15 sessions of 90 min; twelve core sessions (one session per week) are delivered in the first 3 months, followed by 3 monthly booster sessions. Each weekly core session had a specific focus and specific intervention strategies based on active parent coaching during parent-child interaction, and included the parent-child dyad with the parent being actively coached by a trained therapist. Live active coaching increases parents' competence in implementing strategies to enhance child development, and at the same time increases their confidence. This intervention has demonstrated evidence of effectiveness in socio-communicational improvement as measured by ADOS-G (Valeri, 2019) in a randomized controlled trial (RCT).

Cooperative Parent Mediated Therapy

As usual BEHAVIORAL

Speech Language Therapy and Occuapational Therapy provided as usual by National Health Services

Control; Cooperative Parent Mediated Therapy

Eligibility Criteria

• Age: 1 Year - 7 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Molecularly confirmed diagnosis of Fragile X Syndrome
• Molecularly confirmed diagnosis of Williams-Beuren Syndrome
• Autism features
• Score \> or = 4 in Clinical Global Impression (Guy et al., 1976)

You may not qualify if:

• Parent yet enrolled in a parent training during first evaluation

Sponsors & Collaborators

• Bambino Gesù Hospital and Research Institute: lead
• Autour Des Williams: collaborator
• Acea: collaborator

Study Sites (1)

Ospedale Pediatrico Bambino Gesù

Roma, 00146, Italy

RECRUITING

MeSH Terms

Conditions

Fragile X Syndrome; Williams Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; 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; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases

Study Officials

• Paolo Alfieri, PhD, MD

  Ospedale Pediatrico Bambino Gesù

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Paolo Alfieri, PhD, MD

CONTACT

0668594721; paolo.alfieri@opbg.net

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD

Study Record Dates

• First Submitted: October 8, 2020
• First Posted: October 30, 2020
• Study Start: May 17, 2017
• Primary Completion: June 1, 2021
• Study Completion: June 1, 2021
• Last Updated: October 30, 2020

Record last verified: 2020-10

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)