Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years

Penelope J. Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, Robert S. Ware, Andreas Zankl, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend, James McGill

Research output: Contribution to journalReview articleResearchpeer-review

Abstract

Aims: 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.

LanguageEnglish
Pages443-449
Number of pages7
JournalJournal of paediatrics and child health
Volume48
Issue number5
DOIs
Publication statusPublished - May 2012
Externally publishedYes

Fingerprint

Achondroplasia
Guidelines
Middle Ear Ventilation
Adenoidectomy
Tonsillectomy
Referral and Consultation
Polysomnography
Pediatrics
Decompression
Health
Tomography
Magnetic Resonance Imaging
Speech-Language Pathology
Osteochondrodysplasias
Physicians
Nutritionists
Occupational Therapy
Physical Therapists
Operative Surgical Procedures
Sleep Apnea Syndromes

Cite this

Ireland, Penelope J. ; Johnson, Sarah ; Donaghey, Samantha ; Johnston, Leanne ; Ware, Robert S. ; Zankl, Andreas ; Pacey, Verity ; Ault, Jenny ; Savarirayan, Ravi ; Sillence, David ; Thompson, Elizabeth ; Townshend, Sharron ; McGill, James. / Medical management of children with achondroplasia : Evaluation of an Australasian cohort aged 0-5 years. In: Journal of paediatrics and child health. 2012 ; Vol. 48, No. 5. pp. 443-449.
@article{b349212a8bfb4ee69189f410a558a10f,
title = "Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years",
abstract = "Aims: 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.",
author = "Ireland, {Penelope J.} and Sarah Johnson and Samantha Donaghey and Leanne Johnston and Ware, {Robert S.} and Andreas Zankl and Verity Pacey and Jenny Ault and Ravi Savarirayan and David Sillence and Elizabeth Thompson and Sharron Townshend and James McGill",
year = "2012",
month = "5",
doi = "10.1111/j.1440-1754.2011.02255.x",
language = "English",
volume = "48",
pages = "443--449",
journal = "Journal of paediatrics and child health",
issn = "1034-4810",
publisher = "Wiley-Blackwell, Wiley",
number = "5",

}

Ireland, PJ, Johnson, S, Donaghey, S, Johnston, L, Ware, RS, Zankl, A, Pacey, V, Ault, J, Savarirayan, R, Sillence, D, Thompson, E, Townshend, S & McGill, J 2012, 'Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years', Journal of paediatrics and child health, vol. 48, no. 5, pp. 443-449. https://doi.org/10.1111/j.1440-1754.2011.02255.x

Medical management of children with achondroplasia : Evaluation of an Australasian cohort aged 0-5 years. / Ireland, Penelope J.; Johnson, Sarah; Donaghey, Samantha; Johnston, Leanne; Ware, Robert S.; Zankl, Andreas; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; McGill, James.

In: Journal of paediatrics and child health, Vol. 48, No. 5, 05.2012, p. 443-449.

Research output: Contribution to journalReview articleResearchpeer-review

TY - JOUR

T1 - Medical management of children with achondroplasia

T2 - Journal of paediatrics and child health

AU - Ireland, Penelope J.

AU - Johnson, Sarah

AU - Donaghey, Samantha

AU - Johnston, Leanne

AU - Ware, Robert S.

AU - Zankl, Andreas

AU - Pacey, Verity

AU - Ault, Jenny

AU - Savarirayan, Ravi

AU - Sillence, David

AU - Thompson, Elizabeth

AU - Townshend, Sharron

AU - McGill, James

PY - 2012/5

Y1 - 2012/5

N2 - Aims: 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.

AB - Aims: 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.

UR - http://www.scopus.com/inward/record.url?scp=84861201357&partnerID=8YFLogxK

U2 - 10.1111/j.1440-1754.2011.02255.x

DO - 10.1111/j.1440-1754.2011.02255.x

M3 - Review article

VL - 48

SP - 443

EP - 449

JO - Journal of paediatrics and child health

JF - Journal of paediatrics and child health

SN - 1034-4810

IS - 5

ER -