Publications by authors named "Simone Debono"
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Am J Med Genet B Neuropsychiatr Genet
September 2024
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.
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- - Childhood apraxia of speech (CAS) is a severe speech disorder linked to motor planning and genetic factors, with many cases involving specific gene mutations.
- - In a study of 70 individuals with CAS, researchers used genome sequencing to identify damaging genetic variants, discovering high-confidence variants in 26% of participants and doubling the number of known candidate genes related to CAS.
- - The findings highlight the significance of chromatin organization and gene regulation in CAS, suggest shared genetic risks with other neurodevelopmental disorders, and stress the importance of understanding these genetic causes for better diagnosis and treatment options.