Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation (Gen-Phe CTNNB1)

University Medical Centre Ljubljana

Status

Completed

Conditions

CTNNB1 Gene Mutation

Treatments

Diagnostic Test: The Functional Communication Classification System (FCCS)

Diagnostic Test: The Autism Spectrum Quotient-Children's Version (AQ-Child)

Diagnostic Test: The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F)

Diagnostic Test: Brief Infant Sleeping Questionnaire (BISQ)

Diagnostic Test: The Family Impact Scale (FIS)

Diagnostic Test: The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)

Diagnostic Test: The Gross Motor Function Classification System - Expanded and Revised (GMFCS - E&R)

Diagnostic Test: The Visual Function Classification System (VFCS)

Diagnostic Test: The Viking's Speech Scale

Diagnostic Test: The Early Childhood Oral Health Impact Scale (ECOHIS)

Diagnostic Test: The Eating and Drinking Ability Classification System (EDACS)

Diagnostic Test: Manual Ability Classification System (MACS)

Diagnostic Test: Adaptive Behavior Assessment System Third Edition (ABAS-3)

Diagnostic Test: Mini Manual Ability Classification System (Mini-MACS)

Diagnostic Test: Pediatric Sleep Questionnaire (PSQ)

Diagnostic Test: The Achenbach System of Empirically Based Assessment (ASEBA)

Study type

Observational

Funder types

Other

Identifiers

NCT04812119

0120-80/2021/3

Details and patient eligibility

About

The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.

Full description

CTNNB1 mutation is linked with autism and other neurodevelopmental disorders. So far, there have been 28 studies published describing 71 patients with this syndrome, which leaves much to be yet discovered. The goal of the study is to reach out to the community and include as many families of patients with CTNNB1 syndrome as possible to create a strong and reliable base of information. the investigators are specifically interested in the correlation between different genotypes and phenotypes and the natural course of the disease. The information gathered with this study will help understand CTNNB1 mutations as well as their effect on patient's overall health and wellbeing. The long-term goal is using this information to help create new treatment options, e.g. gene therapy.

The participants will be guided through a detailed questionnaire about the patient's history, prenatal and delivery risk factors, current medical issues and standardized questionnaires on a variety of subjects that constitute the patient's health and daily function. The investigators wil ask the participants to provide results of genetic testing and other diagnostic measures, thus providing the medical community as well as the families of the patients a reliable overview of the syndrome.

Enrollment

100 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

Patients with a diagnosed mutation in the CTNNB1 gene.
Patients whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.

Exclusion criteria

Patients who do not have a diagnosed mutation in the CTTNB1 gene.
Patients whose caregivers have not signed the Informed consent form.

Trial design

100 participants in 1 patient group

Patients with the CTNNB1 mutation

Description:

Patient with a diagnosed CTNNB1 mutation.

Treatment: