Speech-Language and Audiological Profile of Cornelia De Lange Syndrome: A Case Report

Abstract

The present study aims toward delineating the speech, language and hearing difficulties in a case of ‘Cornelia de Lange Syndrome (CdLS)’. Pediatrician’s diagnosed the child by observing the phenotypic characteristics, like syndactyly in left leg, tongue tie (repaired), kyphoscoliosis, bushy eyebrows, long philtrum, small stature, small head size, history of delayed eruption of teeth and delayed language and motor developmental milestones. Pedodontic’s surgically corrected the ankyloglossia and reported that the lower incisors were missing congenitally with only the canines and molars being present at this point of time. Psychological evaluation revealed borderline mental retardation, along with presence of autistic-like behavior, by administration of tests like ABC, CARS and VSMS. Speech and Language Analysis conducted via formal (REELS, PAT, Dr. Speech) and informal (PCC & GRBAS) protocols depicted delay in language development (with expression being inferior to comprehension), misarticulation (substitution and distortion errors), severely affected speech intelligibility, and severe hoarse vocal quality. Lastly, a comprehensive audiological evaluation (PTA, Immitance Audiometry & BERA), showed presence of mild conductive hearing loss. These myriad findings are the first of its kind to be documented from Central India, and such information will aid us in gaining a better understanding about multidisciplinary diagnosis and management options for CdLS .