Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder

Author:

Sudnawa Khemika K.12,Garber Alison3ORCID,Cohen Ryan3,Calamia Sean3,Kanner Cara H.4,Montes Jacqueline4,Bain Jennifer M.5ORCID,Fee Robert J.6,Chung Wendy K.1

Affiliation:

1. Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

2. Department of Pediatrics Pramongkutklao Hospital and Pramongkutklao College of Medicine Bangkok Thailand

3. Department of Pediatrics Columbia University New York New York USA

4. Department of Rehabilitation and Regenerative Medicine Columbia University Irving Medical Center New York New York USA

5. Department of Neurology Columbia University Irving Medical Center New York New York USA

6. Department of Neurology Columbia University Vagelos College of Physicians and Surgeons and New York‐Presbyterian Hospital New York New York USA

Abstract

AbstractPathogenic heterozygous loss of function variants in CTNNB1 are associated with CTNNB1 neurodevelopmental disorder. We report the clinical phenotype of individuals with CTNNB1 neurodevelopmental disorder using both caregiver‐reported data (medical history, adaptive function, quality of life, and behavior issues) and in‐person clinical assessments (neurological, motor, and cognitive function) in 32 individuals with likely pathogenic or pathogenic CTNNB1 variants. Most individuals had truncal hypotonia, muscle weakness, hypertonia, dystonia, microcephaly, and many had a history of tethered cord. Visual problems included strabismus, hyperopia, and familial exudative vitreoretinopathy. Half of individuals walked without an assistive device. The mean Gross Motor Functional Measure‐66 score was 56.6 (SD = 14.8). Average time to complete Nine‐Hole Peg Test was slower than norms. Mean general conceptual ability composite scores from Differential Ability Scales Second Edition were very low (M = 58.3, SD = 11.3). Fifty‐five percent of individuals had low adaptive functioning based on the Vineland Adaptive Behavioral Scales. Based upon the Child Behavior Checklist total problems score, the majority (65%) of individuals had behavioral challenges. The mean overall Quality of Life Inventory‐Disability score was 81.7 (SD = 11.9). These data provide a detailed characterization of clinical features in individuals with CTNNB1 neurodevelopmental disorder.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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