In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting .

Background: Heterozygous disruptions of were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition.

Methods: Here we phenotyped 28 individuals from 17 families with pathogenic -only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.

Neurocognitive development in isolated Robin sequence treated with the Tuebingen palatal plate.

Objectives: We aimed to determine the neurocognitive development of cleft palate patients with and without Robin sequence (RS).

Materials And Methods: Children with isolated RS with cleft palate and children with cleft palate only (CPO) were contacted at the age of 5-6 years. All RS children had undergone initial polygraphic sleep study (PG) with a mixed-obstructive apnea index (MOAI) of ≥ 3/h and were consequently treated with the Tuebingen palatal plate.