Orofacial dysfunction in children and adolescents with myotonic dystrophy

Dev Med Child Neurol. 2007 Jan;49(1):18-22. doi: 10.1017/s0012162207000060.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Articulation Disorders / diagnosis
  • Articulation Disorders / epidemiology
  • Articulation Disorders / physiopathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cross-Sectional Studies
  • Dyskinesia, Drug-Induced / diagnosis
  • Dyskinesia, Drug-Induced / epidemiology*
  • Dyskinesia, Drug-Induced / physiopathology*
  • Female
  • Humans
  • Lip / physiopathology
  • Male
  • Myotonic Dystrophy / epidemiology*
  • Myotonic Dystrophy / genetics
  • Observer Variation
  • Parents
  • Phonetics
  • Prevalence
  • Severity of Illness Index
  • Sex Distribution