title: Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.
abstract: OBJECTIVE
  Achondroplasia is the most common form of osteochondrodysplasia and is associated with a number of life-threatening complications. The complexity of the condition led to the development of Heath Supervision Guidelines published by the American Academy of Pediatrics in 1995 and revised in 2005. There remains limited population-based information on utilisation of medical and therapy services for children with achondroplasia. Increased information regarding use of these services will assist in future service development.
  
  
  METHODS
  Data regarding frequency and timing of medical and allied health consultations, investigations and interventions were collected from 53 Australasian families via questionnaire, based on recommendations of the Health Supervision Guidelines, an expert reference group and literature review.
  
  
  RESULTS
  Rates varied with age for medical consultations (geneticist, paediatric rehabilitation physician/paediatrician, respiratory physician, orthopaedic consultant, neurologist, neurosurgeon), medical investigations (sleep study, magnetic resonance imaging/computed tomography), operative procedures (brain-stem decompression, tonsillectomy/adenoidectomy, shunt insertion, shunt revision and insertion of grommets) and allied health consultations (physiotherapist, occupational therapist, speech pathologist, dietician and orthotist).
  
  
  CONCLUSIONS
  Access to geneticists and paediatricians within the first year is high as recommended by the 2005 American Academy of Pediatrics guidelines. Utilisation of craniocervical magnetic resonance imaging/computed tomography, polysomnography studies and formal speech review appears low, reflecting more emphasis on clinical monitoring for cervical cord compression and disordered sleep breathing as well as possible difficulties in accessing services for polysomnography and speech pathology. Grommet insertion, tonsillectomy/adenoidectomy and cervicomedullary decompression rates are similar to results reported previously. Over half of the children accessed physiotherapy and/or occupational therapy services, warranting consideration of these professionals in future guideline recommendations.
authors: School of Health and Rehabilitation Sciences School of Population Health, The University of Queensland, Brisbane, Queensland, Australia. penny_ireland@health.qld.gov.au
authors: Penelope J
authors: PJ
authors: Ireland
authors: Sarah
authors: S
authors: Johnson
authors: Samantha
authors: S
authors: Donaghey
authors: Leanne
authors: L
authors: Johnston
authors: Robert S
authors: RS
authors: Ware
authors: Andreas
authors: A
authors: Zankl
authors: Verity
authors: V
authors: Pacey
authors: Jenny
authors: J
authors: Ault
authors: Ravi
authors: R
authors: Savarirayan
authors: David
authors: D
authors: Sillence
authors: Elizabeth
authors: E
authors: Thompson
authors: Sharron
authors: S
authors: Townshend
authors: James
authors: J
authors: McGill
mesh_terms: D000130:Achondroplasia / Q000628:therapy*; D001315:Australia; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D019538:Health Care Surveys; D006296:Health Services / Q000706:statistics & numerical data*; D006297:Health Services Accessibility; D006301:Health Services Needs and Demand; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009520:New Zealand; D017410:Practice Guidelines as Topic; D011446:Prospective Studies; D011795:Surveys and Questionnaires