The effect of syndrome diagnosis on speech remediation.
On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.
Meyerson
M D
MD
D000015:Abnormalities, Multiple / Q000534:rehabilitation*; D002648:Child; D003410:Cri-du-Chat Syndrome / Q000534:rehabilitation; D004314:Down Syndrome / Q000534:rehabilitation; D004476:Ectodermal Dysplasia / Q000534:rehabilitation; D005260:Female; D006130:Growth Disorders / Q000534:rehabilitation; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000534:rehabilitation; D009886:Ophthalmoplegia / Q000151:congenital; D011218:Prader-Willi Syndrome / Q000534:rehabilitation; D013070:Speech Therapy; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities