LANGUAGE IN INDIA

Strength for Today and Bright Hope for Tomorrow

Volume 16:7 July 2016
ISSN 1930-2940

Managing Editor: M. S. Thirumalai, Ph.D.
Editors: B. Mallikarjun, Ph.D.
         Sam Mohanlal, Ph.D.
         B. A. Sharada, Ph.D.
         A. R. Fatihi, Ph.D.
         Lakhan Gusain, Ph.D.
         Jennifer Marie Bayer, Ph.D.
         G. Baskaran, Ph.D.
         L. Ramamoorthy, Ph.D.
         C. Subburaman, Ph.D. (Economics)
         N. Nadaraja Pillai, Ph.D.
         Renuga Devi, Ph.D.
         Soibam Rebika Devi, M.Sc., Ph.D.
Assistant Managing Editor: Swarna Thirumalai, M.A.

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

Kamalika Chowdhury, M.ASLP
Nirnay Kumar Keshree, M.ASLP
Ayushi Pathak, B.ASLP

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 .

Keywords: Cornelia de Lange Syndrome (CdLS), Syndactyly, Speech and Language Delay, Autistic-like Behaviors, Conductive Hearing Loss, Multidisciplinary Team.

Introduction

Cornelia de Lange syndrome (CdLS), is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency; feeding difficulties, psychomotor delay behavioral problems, and associated malformations that mainly involve the upper extremities. This is a developmental disability first reported by Brachman in 1916 and further investigated by De Lange in 1933 (Goodman & Gorlin, 1977). It may also be referred to as De Lange’s syndrome, Brachmann-de Lange syndrome, Amsterdam dwarfism syndrome, and typus dengenerativus amsteiodamensis. The syndrome tends to be relatively uncommon, with reported incidence rates varying from 1:30,000 to 1: 50,000 live births and appears to affect males and females equally (Corlett, 2003). Currently, no definitive tests or genetic analysis to confirm the diagnosis exists. However, it is suspected of being caused by a deletion on the short arm of chromosome 5 (5p12) (Goodart et al., 1994; Overhauser et al., 1994). Diagnosis rests on the presence or absence of a number of physical, cognitive and behavioral characteristics. Diagnosing classic cases of de Lange syndrome is usually straightforward, but diagnosing mild cases may be challenging, even for an experienced clinician.

This is only the beginning part of the article. PLEASE CLICK HERE TO READ THE ENTIRE ARTICLE IN PRINTER-FRIENDLY VERSION.

Kamalika Chowdhury; M.ASLP
Lecturer (Speech Language Pathology)
Department of Speech & Hearing
Sri Aurobindo Institute of Medical Science (SAIMS)
Indore-Ujjain State Highway
Indore 453555
Madhya Pradesh
India
kamalika27@gmail.com

Nirnay Kumar Keshree, M.ASLP
Lecturer (Audiology)
Department of Speech & Hearing
Sri Aurobindo Institute of Medical Science (SAIMS)
Indore-Ujjain State Highway
Indore 453555
Madhya Pradesh
India
nirnay@mail.com

Ayushi Pathak; B.ASLP
Student Intern
Department of Speech & Hearing
Sri Aurobindo Institute of Medical Science (SAIMS)
Indore-Ujjain State Highway
Indore 453555
Madhya Pradesh
India
aayushi.125@gmail.com

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