title: Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings.
abstract: BACKGROUND
  The aim of the present study was to show the results of an overnight polysomnography in a cohort of 9 children (7 females and 2 males) with achondroplasia, aged between 1 and 12 years (5.56±4.7 years). All of the children carried the Gly380Arg (G380R) mutation on the FGFR3 gene.
  
  
  METHODS
  All the young patients underwent nocturnal polysomnography without sleep deprivation. Sleep staging was noted according to the guidelines of the American Academy of Sleep Medicine. At the time of registration, the parents answered to a Sleep Control Test questionnaire regarding medical history and diurnal and nocturnal symptoms of their children.
  
  
  RESULTS
  Respiratory sleep disorder was present in 78% of cases, and was generally mild. In 67% of the children there was respiratory effort for more than 30% of the total sleep time. The sample was divided into two age categories: 5 children under the age of 3 years and 4 children over 10 years old. A higher incidence of sleep disorder was found in the first few years of life, where the obstructive pattern predominates. Regarding sleep architecture, we did not find macroscopic alterations of sleep architecture and its phasic manifestations in our paediatric group. However, parents have not been referred daytime sleepiness, attention deficiency, hyperactivity and nocturnal enuresis. Only one had referred recurrent respiratory infections.
  
  
  CONCLUSIONS
  Polysomnography is a very useful tool in the evaluation of sleep-disordered breathing in children with achondroplasia.
authors.affiliation: Pediatric Section, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy - marco.zaffanello@univr.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Zaffanello
authors.affiliation: Pediatric Section, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Lo Tartaro
authors.affiliation: Pediatric Section, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Piacentini
authors.affiliation: Unit of Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Cantalupo
authors.affiliation: Pediatric Section, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Gasperi
authors.affiliation: Pediatric Section, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Antoniazzi
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000235:genetics; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D017286:Polysomnography / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D011795:Surveys and Questionnaires
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3