Abstract

DOWNS SYNDROME WITH DEAF MUTISM: A CASE STUDY

Keerthi Madabathula*, Uma Sankar Viriti, Manukonda Raji Priscilla, Molli Satya Venkata Sudeep

Abstract

Downs syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this can vary widely. In this present case ,patient came with the complaint of tempered tantrum (banging head frequently), delayed mile stones noticed at 1½ year of age and difficult in language development and also deaf since birth. On examination patient was observed with simians crease, saddle gap, depressed nasal bridge, mongoloid slant, hypoplasia of middle phalanx and partial clinodactyly. By observing these conditions patient was diagnosed as suffering with Downs Syndrome with Deaf Mutism. He was prescribed with Syrup Zincovit which is a amino acid supplement and a multivitamin. It is recommended as an important dietary supplement and is especially beneficial for growth, immunity, mental development and behaviour in children. Patient representative was counseled regarding the disease, its complications, drug therapy and also about alternative, occupational, physical, speech and language therapy.

Keywords: Trisomy 21, simians crease, tempered tantrum, mongoloid slant, partial clinodactyly, Deaf Mutism.