Speech and Language Delay: Hearing Loss of Unknown Origin or Manifestation of a Syndrome?

Background and Aim: Speech and language development is a useful indicator of a child's overall development and cognitive ability. Identification of children at risk for developmental delay or related problems may lead to intervention services and family support at the earliest possible age, when the chances for improvement are highest. Various disorders may cause delay in speech and language development (oral and motor problems, neurological disorders, psychiatric diseases, etc.). However, in all cases hearing loss should first be excluded.

Case Report: A 3-year-old girl was referred to our department due to speech and language delay. In her history, there was nothing worth mentioning during the prenatal and perinatal periods except for a congenital heart problem. The examination revealed hypertelorism, drooping of the eyelids (ptosis), broad forehead, and curly hair; she showed no signs of otitis media. We performed otoacoustic emissions and ABR that were within normal limits. The multidisciplinary approach led to the diagnosis of Noonan syndrome. This is a relatively common congenital condition with some principal features such as heart failure, short stature, learning problems, and a characteristic configuration of facial features. However, the range and severity of features can vary greatly. Despite identification of four causative genes, the diagnosis of NS is still based on clinical features.

Conclusion: Although no hearing loss was found in this case, the cause of speech and language delay—a common feature of Noonan syndrome—was identified.