Audiological, Speech-Language Assessment and Management in Noonan Syndrome: A Longitudinal Case Study

Abstract

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. It is associated with hearing loss and speech problems. In approximately 50% of cases the disease is caused by mutations in the PTPN11 gene (www.betterhealth.vic.gov.au). Case Report We present longitudinal case report of a boy, 13 years old with complaint of hearing and speech problem. The case was under observation and rehabilitation since last eleven years. The general examination of the head and face revealed that the ears were lowset. Audiological and speech language examination revealed a profound sensorineural hearing loss bilaterally with deficient speech and language skills. Genetic analysis confirmed the diagnosis of Noonan syndrome. An attempt has been made in this paper to highlight on one of the associated problems that is hearing loss and consequent speech-language delay. Early and regular monitoring through Audiological and Speech language assessment and management can lead to better rehabilitation.