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Aya Education - February 2024

Turner Syndrome and AAC

Robert Shprintzen, Ph.D

August 25, 2003

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Question

I see a student with Turner's Syndrome. She has a AAC device becuase her speech is not functional. Breath support is compromised. Is this a common issue related to Turner's syndrome and if so, what is the treatment course indicated?

Answer

Turner syndrome (please note that in genetic terminology, we do not use the possessive form, ''Turner's''...it is an eponym, not ownership) is the most common monosomy in humans and is caused by absence of one sex chromosome and the presence of a single X chromosome, hence the karyotype of 45X. Phenotypic features of Turner syndrome may also be present with other rearrangements of the X chromosome, or with chromosomal mosaicism where only a portion of the cells have the deletion. Birth frequency is estimated at 1:2,500. Your description does not mention the association of other anomalies. You simply state that ''speech is not functional'' and further suggest that ''breath support is compromised.'' Poor breath support would not result in a ''speech'' problem, per se, but might certainly cause voice problems. One of the common anomalies in Turner syndrome is the presence of aortic arch anomalies, particularly coarctations, but other heart anomalies may also be found on occasion. If the heart anomaly is severe and has not been repaired, then it is possible that respiration and pulmonary capacity might be impaired. Also common in Turner syndrome is submucous cleft palate. Is it possible that what you are observing is severe hypernasality? Also common in Turner syndrome is sensorineural hearing loss, although it is not typically profound. Under any of these circumstances, I am not sure I understand the need for augmentative devices. I have not personally seen a patient with Turner syndrome who required such a treatment approach, and I have seen many patients with this common chromosome disorder. You need to get additional information about her case in order to better proceed with her care.

Robert J. Shprintzen, Ph.D.
Director
Center for Genetic Communicative Disorders
Upstate Medical University
Syracuse, NY


References:

Shprintzen, Robert J. (2000). Syndrome Identification for Speech-Language Pathology: An Illustrated PocketGuide. Singular Publishing/Thomson Learning: San Diego, CA.

Dykens, E. M., Hodapp, Robert M, & Finucane, Brenda M. (2000). Genetics and Mental Retardation Syndromes. Paul Brooks Publishing: Baltimore, MD

Dr. Shprintzen is currently Director of several programs at University Hospital of Upstate Medical University in Syracuse, NY, including the Communication Disorder Unit, the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, and the Center for Genetic Communicative Disorders. He is Professor of Otolaryngology and Communication Sciences and Professor of Pediatrics at Upstate Medical University. Dr. Shprintzen's research career has covered many areas, including clinical genetics, speech physiology, feeding disorders, radiology, fiberoptic endoscopy, cleft palate, and research methodology. He is author or co-author of over 160 peer reviewed papers in more than 25 scholarly journals, and over 20 chapters in scholarly texts. He has published five books including four texts on genetic disorders associated with communication impairment and feeding disorders. He is widely credited for delineating four genetic disorders, several of which bear his name in the medical literature. He is a member of 8 professional societies and has held high office in three. He served as President of the Society of Craniofacial Genetics and also served as Editor for that Society. He was also President of the Society of Ear, Nose, and Throat Advances in Children (SENTAC). He was Editor of The Cleft Palate-Craniofacial Journal from 1988 until 1991. He is an Honorary Fellow of the American Society of Pediatric Otolaryngology. He is a Fellow of the American Speech-Language-Hearing Association. He received the Outstanding Clinical Achievement Award in 1992 from ASHA and the Distinguished Achievement Award in 1992 from the New York State Speech-Language-Hearing Association. Dr. Shprintzen has traveled extensively at the invitation of foreign hospitals and governments in Australia, Brazil, Canada, Denmark, Egypt, England, France, Germany, Israel, Italy, Mexico, The Netherlands, Republic of China, South Africa, Sweden, and Switzerland. He has made over 800 presenta


Robert Shprintzen, Ph.D


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