title: Orofacial dysfunction in children and adolescents with myotonic dystrophy.
abstract: Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty-six individuals with DM (30 males, 26 females; median age 13y 2mo; range 2y 6mo-21y 5mo) were compared with healthy controls. They were divided into four subgroups: severe congenital DM (n=18); mild congenital DM (n=18); childhood DM (n=18); and classical DM (n=2). A speech-language pathologist assessed different variables of oral motor function, intelligibility, and lip force. The families used a questionnaire to report on eating difficulties and drooling. All individuals with DM had impaired facial expression. Intelligibility was moderately or severely reduced in 30 patients (60%), excluding six patients without speech. Most had a moderate or severe impairment of lip motility (76.0%), tongue motility (52.2%), and lip force (69.2%), causing deviant production of bilabial and dental consonants. The families reported problems with eating (51.9%) and drooling (37.0%). Oral motor dysfunction was most prominent in congenital DM, and males were more affected than females.
authors.affiliation: Mun-H-Center Orofacial Resource Centre for Rare Disorders and Department of Speech Pathology, Institute of Neuroscience and Physiology, Sahlgrenska Academy at Göteborg, Göteborg, Sweden. lotta.sjogreen@vgregion.se
authors.forename: Lotta
authors.initials: L
authors.lastname: Sjögreen
authors.forename: Monica
authors.initials: M
authors.lastname: Engvall
authors.forename: Anne-Berit
authors.initials: AB
authors.lastname: Ekström
authors.forename: Anette
authors.initials: A
authors.lastname: Lohmander
authors.forename: Stavros
authors.initials: S
authors.lastname: Kiliaridis
authors.forename: Már
authors.initials: M
authors.lastname: Tulinius
mesh_terms: D000293:Adolescent; D001184:Articulation Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D004409:Dyskinesia, Drug-Induced / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008046:Lip / Q000503:physiopathology; D008297:Male; D009223:Myotonic Dystrophy / Q000453:epidemiology* / Q000235:genetics; D015588:Observer Variation; D010290:Parents; D010700:Phonetics; D015995:Prevalence; D012720:Severity of Illness Index; D017678:Sex Distribution