A total of 155 patients with bilateral hearing loss carrying SLC26A4 gene mutations were further subjected to high-resolution temporal bone CT and thyroid B ultrasound tests.
The age at confirmation of bilateral hearing loss in bilateral "pass" patients with PDS mutation was 31.5 ± 17.9 months, which was significantly delayed compared to the age for bilateral "refer" children (1.75 ± 0.96 months) (p<0.05).
Eleven young children, median age 5 years 7 months (range 3y;11 m to 10y;8 m) with bilateral hearing loss were enrolled in a single-case experimental design and completed a 24-week intervention that incorporated high-tech AAC strategies into a traditional speech-language therapy model (technology-assisted language intervention or TALI).
Our findings are inconsistent with a causative effect of RAB40ALp.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation.
Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilateral hearing loss revealed that 10.3% of Czech patients carry only one monoallelic pathogenic mutation in the coding region of the GJB2 gene, which is significantly more than the population frequency of 3.4%.