Fragile X Syndrome Clinical Trial
Official title:
Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome
NCT number | NCT04610424 |
Other study ID # | 1324_OPBG_2017 |
Secondary ID | |
Status | Recruiting |
Phase | N/A |
First received | |
Last updated | |
Start date | May 17, 2017 |
Est. completion date | June 2021 |
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.
Status | Recruiting |
Enrollment | 14 |
Est. completion date | June 2021 |
Est. primary completion date | June 2021 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 1 Year to 7 Years |
Eligibility | Inclusion Criteria: - 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) Exclusion Criteria: - Parent yet enrolled in a parent training during first evaluation |
Country | Name | City | State |
---|---|---|---|
Italy | Ospedale Pediatrico Bambino Gesù | Roma |
Lead Sponsor | Collaborator |
---|---|
Bambino Gesù Hospital and Research Institute | Acea, Autour Des Williams |
Italy,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | |
Primary | Assertivity | Assertivity as measured by Skills Socio-Conversational of the Child. Scores from 1 to 5 (Higher scores indicate better functioning) | 6 months | |
Primary | Responsivity | Assertivity as measured by Skills Socio-Conversational of the Child. Scores from 1 to 5 (Higher scores indicate better functioning) | 6 months | |
Primary | 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 | |
Primary | 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 | |
Primary | 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 | |
Primary | 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 | Behavioral and emotional problem | Behavioral and emotional problems as measurd by Child Behavior Checklist (T-scores, Mean 50, standard deviation 15). Higher scores indicate severe problems. >64 borderline >70 clinical | 6 months | |
Secondary | Change in Adaptive Level (Vineland Adaptive Behavior Scales, Second Edition) | Adaptive functioning of children. Scores are expressed in standard scores (mean 100, Standard deviation 15). Higher scores indicate better functioning. | 6 months | |
Secondary | 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 | Clinical Global Impression - Improvement scale (CGI-I) | Clinical Global Impression - Improvement scale (CGI-I) s a 7-point scale used to measure improvement after treatment (Higher scores indicate more severe symptoms) | 6 months | |
Secondary | Cognitive/developmental Level | Developmental/cognitive level of children as measured by Leiter 3 /Griffiths III. Scores are expressed in standard scores (mean 100, Standard deviation 15). Higher scores indicate better functioning | 6 months | |
Secondary | Quality of Life (Social Relationship) of parents | Quality of life (Social Relationship) as measured by (WHOQOL). Scores are expressed in raw scores from 0 to 100 (higher scores indicate better quality of life. | 6 momths | |
Secondary | Quality of Life (Environmental) of parents | Quality of life (Environmental) as measured by (WHOQOL). Scores are expressed in raw scores from 0 to 100 (higher scores indicate better quality of life. | 6 momths | |
Secondary | Quality of Life (Fisical) of parents | Quality of life (Fisical) as measured by (WHOQOL). Scores are expressed in raw scores from 0 to 100 (higher scores indicate better quality of life. | 6 momths | |
Secondary | Quality of Life (Psychological) of parents | Quality of life (Psychological) as measured by (WHOQOL). Scores are expressed in raw scores from 0 to 100 (higher scores indicate better quality of life. | 6 momths | |
Secondary | Change in Parenting Stress (Parental Distress) | Parenting Stress as measured by Parendal Distress Scale of Parenting Stress Index Short Form. Scores are expressed in percentile (from 5° to 100°). Higher scores indicate higher level of stress | 6 months | |
Secondary | Change in Parenting Stress (Difficult Child) | Parenting Stress as measured by Difficult Child Scale of Parenting Stress Index Short Form. Scores are expressed in percentile (from 5° to 100°). Higher scores indicate higher level of stress | 6 months | |
Secondary | Change in Parenting Stress (Parent-Child Dysfunctional Interaction) | Parenting Stress as measured by Parent-Child Dysfunctional Interaction Scale of Parenting Stress Index Short Form. Scores are expressed in percentile (from 5° to 100°). Higher scores indicate higher level of stress | 6 months | |
Secondary | Change in Parenting Stress (Total Score) | Parenting Stress as measured by Total Stress Scale of Parenting Stress Index Short Form. Scores are expressed in percentile (from 5° to 100°). Higher scores indicate higher level of stress | 6 months |
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