Trends in Performance Using Early Speech Perception Test in Typically Developing Tamil-Speaking Children.

BACKGROUND AND OBJECTIVES: The study attempted to trace age-related changes in speech perception in typically developing children (≥3 to ≤6 years) using the "Early Speech Perception (ESP)" in Tamil. The test was developed in line with the original English version of ESP but adapted to suit the linguistic requirement of the Tamil language. SUBJECTS AND METHODS: Using a cross-sectional design, the test was administered to 205 children with normal hearing who were classified into three age groups (≥3 to ≤4, >4 to ≤5, and >5 to ≤6 years). The developed test had three subtests (syllable categorization, bisyllable word identification, and trisyllable word identification). RESULTS: All three age groups obtained perfect or near-perfect scores on the three subtests of ESP. There was no significant difference observed between the two adjacent age groups (≥3 to ≤4 vs. >4 to ≤5 years, >4 to ≤5 vs. >5 to ≤6 years) for all three subtests. However, significant differences were seen only between the youngest and the oldest age groups for the three subtests (≥3 to ≤4 vs. >5 to ≤6 years). CONCLUSIONS: The results indicated that ESP in Tamil can be performed effectively in all the three age groups studied.

Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment.

BACKGROUND: Consanguineous marriage, a common practice in South India, increase the incidence of autosomal recessive diseases such as nonsyndromic hearing loss (NSHL) in offspring. This trend was noted in the children with hearing impairment (HI) who received cochlear implants (CI) at our University hospital in Porur, Chennai, India. To ascertain the genetic etiology of HI in these patients, we performed multiplex ligation-dependent probe amplification (MLPA) analysis. METHODS: A total of 25 families who had a child with NSHL were included in the study. MLPA screening of GJB2, GJB6, and GJB3 was performed for all the recruited individuals. RESULTS: The pathogenic p.W24X* mutation of GJB2 was detected in 2 patients; both of their parents were heterozygous carriers. Both families had a second-degree consanguineous marriage. CONCLUSION: This study has important implications for molecular-diagnosis strategy and genetic counseling for families with HI in South India.