Communication Profile of de Lange Syndrome
Article Sidebar
Main Article Content
Abstract
Introduction
de Lange Syndrome is an autosomal dominant disorder which was initially described by Vrolik (1849) in a child with severe oligodactayly.
Case Report
A case of 2y2m/Female child came for speech and hearing evaluation. Audiological examination (BOA, DPOAE, ABR /BAER) and Speech-Language Evaluation, Psychological Examination were done by expertise clinicians. Previously, the child was diagnosed with de Lange Syndrome. Audiological evaluation diagnosed the child to have moderately severe hearing loss. After speech and language evaluation the child was detected with speech language disorder. After psychological evaluation the child was diagnosed with severe developmental delay and having low IQ range.
Discussion
de Lange syndrome is an autosomal dominant developmental disorder characterized by the sample number of characteristics which requires more rehabilitation options have to be planned. Unfortunately, there is dearth of literature that addresses the characteristics, assessment and intervention of individuals with de Lange syndrome.
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
References
Kline A, Moss J, Selicorni A, Bisgaard A, Deardorff M, Gillett P et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature Reviews Genetics 2018; 19(10):649-66
de Knecht-van Eekelen A, Hennekam R. Historical study: Cornelia C. de Lange (1871-1950): A pioneer in clinical genetics. American Journal of Medical Genetics. 1994;52(3):257-66
Jackson L, Kline A, Barr M, Koch S. de Lange syndrome: A clinical review of 310 individuals. American Journal of Medical Genetics 1993; 47(7):940-6
Beck B, Fenger K. Mortality, Pathological Findings and Causes of Death in the de Lange Syndrome. Acta Paediatrica 1985; 74(5):765-9
Northern J, Downs M, Hayes D. Hearing in children. San Diego: Plural Publishing; 2014
Hall JW III. Update on Auditory Evoked Responses: Evidence-Based ABR Protocol for Infant Hearing Assessment. Audiologyonline [Internet] Jan24, 2017[cited 6 April 2020]. Available from: https://www.audiologyonline.com/articles/update-on-auditory-evoked-responses-19040.