Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation

Conditions

• CTNNB1 Gene Mutation

Interventions

• DIAGNOSTIC_TEST: The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F)
• DIAGNOSTIC_TEST: The Autism Spectrum Quotient-Children's Version (AQ-Child)
• DIAGNOSTIC_TEST: The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
• DIAGNOSTIC_TEST: The Viking's Speech Scale
• DIAGNOSTIC_TEST: The Functional Communication Classification System (FCCS)
• DIAGNOSTIC_TEST: Brief Infant Sleeping Questionnaire (BISQ)
• DIAGNOSTIC_TEST: Pediatric Sleep Questionnaire (PSQ)
• DIAGNOSTIC_TEST: The Eating and Drinking Ability Classification System (EDACS)
• DIAGNOSTIC_TEST: Mini Manual Ability Classification System (Mini-MACS)
• DIAGNOSTIC_TEST: Manual Ability Classification System (MACS)
• 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 Early Childhood Oral Health Impact Scale (ECOHIS)
• DIAGNOSTIC_TEST: The Family Impact Scale (FIS)
• DIAGNOSTIC_TEST: The Achenbach System of Empirically Based Assessment (ASEBA)
• DIAGNOSTIC_TEST: Adaptive Behavior Assessment System Third Edition (ABAS-3)

Sponsor

University Medical Centre Ljubljana

Collaborators

• [object Object]
• [object Object]
• [object Object]
• [object Object]