Evaluation for language and speech development in Kabuki make-up syndrome: a case report.

摘要

Kabuki make-up syndrome (KMS) is defined as a rare syndrome with mental retardation, growth deficiency and multiple anomalies of unknown cause. Cases have a characteristic facial appearance of broad and low auricles, wide forehead, broad and flattened nose root. In this article, 4-year, 10-month-old boy with speech delay reported due to characteristics of the facial appearance is considered as KMS, a rare syndrome. Otological, audiological and developmental evaluation of the patient consisted of six parameters. (1) ENT examination: normal. (2) Audiological findings were at normal hearing levels. (3) General development (according to the Denver II test), was normal. (4) Language and speech development: receptive language development was 2 years more than the chronological age. However in expressive language development, there was 5-month delay which was likely to complete by training in a short time. (5) The development of speech sounds and articulation: the delay is observed in CVC words. Speech sounds of /l/, /t/, /r/ and /g/ were evaluated as "distorted expression". He used /v/ instead of /l/; /y/ instead of /r/; /d/ instead of /g/. (6) Observations: diffident, deficit in self-confidence, and difficulty in communicating have been observed.Unlike the cases in literature, mental retardation, growth deficiency and learning difficulties were not found in our case with KMS. Normal findings were obtained in five parameters. Only the /l/, /r/ and /g/ speech sounds were expressed as distorted. For our case, we planned to follow him in the future to see whether developmental and central auditory processing disorders will occur or not.