A rare manifestation of specific learning disability in a child with Aicardi syndrome

Abstract

Aicardi syndrome is a rare genetic disorder characterized by agenesis of corpus callosum, infantile spasm, and chorio-retinal lacunae. Psychomotor retardation and moderate-to-severe speech and language impairment are observed in almost all the reported cases of Aicardi syndrome. The present case report is highlighting the speech-language and hearing characteristics of a 9-year-old female child diagnosed with Aicardi syndrome. Detailed profiling of speech and language skills revealed reading, writing, and arithmetic problems in the child, focusing toward the presence of specific learning disability. Audiological evaluation revealed normal peripheral hearing sensitivity with auditory closure deficits, commonly seen in cases with specific learning disability. Dichotic test results were consistent with corpus callosum agenesis. The co-morbidity of specific learning disability with Aicardi syndrome is rare and the present case is showing variability of processing skills among such individuals.

Keywords:

• Auditory processing
• corpus callosum agenesis
• genetic disorder
• language disorders

Acknowledgements

The authors extend their sincere gratitude to Dr. N. P. Nataraja, Director, Jagadguru Sri Shivarathreeswara Institute of Speech and Hearing, University of Mysore, Mysuru, for granting permission to carry out this study. We also like to convey our thanks to the participant and her mother for their kind cooperation throughout the testing procedures.

Funding information

No funding is received for the present case report.

Notes on contributor

Saransh Jain is Lecturer in Audiology and teaching audiology and related subjects to undergraduate and post graduate students. His research interest includes auditory processing, psychoacoustic testing and assessing speech perception abilities in different set of population. Nagashreeya Dinesh is intern student pursuing her graduation in audiology and speech language pathology