Genes, Vol. 14, Pages 1843: From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

Genes, Vol. 14, Pages 1843: From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome Genes doi: 10.3390/genes14101843 Authors: Roberta Onesimo Elisabetta Sforza Valentina Trevisan Chiara Leoni Valentina Giorgio Donato Rigante Eliza Maria Kuczynska Francesco Proli Cristiana Agazzi Domenico Limongelli Maria Cistina Digilio Maria Lisa Dentici Maria Macchiaiolo Antonio Novelli Andrea Bartuli Lorenzo Sinibaldi Marco Tartaglia Giuseppe Zampino CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the CTNNB1 gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were collected. Sialorrhea was quantified using the Drooling Quotient 5. Feeding abilities were screened using the Italian version of the Montreal Children’s Hospital Feeding Scale (I-MCH-FS). Mild-to-severe coordination difficulties in single or in a sequence of movements involving the endo-oral and peri-oral muscles were noticed across the entire cohort. Mild-to-profuse drooling was a commonly complained-about iss...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research