CTNNB1 Neurodevelopmental Syndrome - Natural History Study

Conditions

• CTNNB1 Neurodevelopmental Syndrome

Interventions

• DIAGNOSTIC_TEST: A General Medical and Neurological Assessment
• DIAGNOSTIC_TEST: World Health Organisation (WHO) Motor Milestones
• DIAGNOSTIC_TEST: Burke-Fahn-Marsden Dystonia Rating Scale
• DIAGNOSTIC_TEST: Spastic Paraplegia Rating Scale
• DIAGNOSTIC_TEST: 5. CTNNB1-Related Neurodevelopmental Disorder (NEDSDV) Cardiac Health Questionnaire
• DIAGNOSTIC_TEST: 10m Walk-Run Test
• DIAGNOSTIC_TEST: The Nine Hole Peg Test
• DIAGNOSTIC_TEST: The Gross Motor Function Classification System
• DIAGNOSTIC_TEST: Bayley Scales of Infant and Toddler Development-4: Fine Motor, Gross Motor, Language, and Cognitive Scales
• DIAGNOSTIC_TEST: Wechsler Non-Verbal Scale of Ability
• DIAGNOSTIC_TEST: The Vineland Adaptive Behaviour Scales - 3
• DIAGNOSTIC_TEST: Aberrant Behaviour Checklist -Community
• DIAGNOSTIC_TEST: The Modified Checklist for Autism in Toddlers
• DIAGNOSTIC_TEST: The Autism Spectrum Quotient Questionnaire -Children's Version
• DIAGNOSTIC_TEST: The Autism-Spectrum Quotient (AQ)-Adolescent Version
• DIAGNOSTIC_TEST: Continuous Movement Monitoring (Actimyo/Syde)
• DIAGNOSTIC_TEST: Sleep Disturbance Scale for Children
• DIAGNOSTIC_TEST: Seizure Diary
• DIAGNOSTIC_TEST: 30min EEG Recording
• DIAGNOSTIC_TEST: PedsQL Family Impact Module

Sponsor

University Medical Centre Ljubljana

Collaborators

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