Rehabilitation of a pediatric achondroplasia patient – Case report
More details
Hide details
1
Department of Nursing, Faculty of Health Science, Collegium Medicum, University of Warmia and Mazury, Olsztyn, Poland
2
Department of Rehabilitation, Regional Specialized Children's Hospital in Olsztyn, Poland
3
Department of Rehabilitation, School of Medicine, Collegium Medicum, University of Warmia and Mazury in Olsztyn, Poland.
Submission date: 2018-08-29
Acceptance date: 2018-10-01
Online publication date: 2018-12-15
Publication date: 2019-06-30
Corresponding author
Alicja Warmowska-Dawid
Department of Nursing, Faculty of Health Science, Collegium Medicum, University of Warmia and Mazury, Olsztyn, Poland, Oczapowskiego 2, 10-719 Olsztyn, Poland. Tel.: +4889 539 32 83.
Pol. Ann. Med. 2019;26(1):55-59
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Achondroplasia is the most common non-lethal osteochondrodysplasia characterized by macrocephaly, frontal bossing and depressed nasal bridge, disproportionate short stature, bowing of the lower legs, rhizomelia and trident hands.
Aim:
The aim of this work is to present a clinical case of a achondroplasia patient and effects of early rehabilitation.
Case study:
A 3-month-old female infant was admitted to our hospital due to insufficient weight gain. Patient was diagnosed with achondroplasia. Due to the truncal hypotonia and right torticollis, between 4. and 24. month of age, rehabilitation according to Vojta method and Bobath concept was conducted.
Results and discussion:
Patient was diagnosed with delayed motor development in comparison to healthy children population. With the use of achondroplasia developmental recording forms psychomotor development was found to be harmonic and normal for this disease entity. As a result of rehabilitation normalization of muscle tone and correction of head position was achieved in the seventh month of age.
Conclusions:
(1) Children with achondroplasia require early rehabilitation adapted to the delay in the certain stage of development. (2) In the assessment of psychomotor development and effects of rehabilitation “achondroplasia developmental recording forms” prove to be useful. (3) Its widespread use by clinicians should be recommended. (4) Development of rehabilitation guidelines for achondroplasia patients requires multicenter cooperation.
ACKNOWLEDGEMENTS
The authors wish to thank the mother of the patient for her co-operation and support and for providing the consent for the publication.
FUNDING
No funding was received.
CONFLICT OF INTEREST
The authors report no conflict of interest.
REFERENCES (24)
1.
Waller DK, Correa A, Vo TM, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A(18):2385–2389.
https://doi.org/10.1002/ajmg.a....
4.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Pract Res Clin Rheumatol. 2008;22(1):3–18.
https://doi.org/10.1016/j.berh....
5.
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics.1995;95(3):443–451.
6.
Hunter AGW, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705–712.
https://doi.org/10.1136/jmg.35....
8.
Ireland PJ, Donaghey S, McGill J, et al. Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol. 2012;54(6):532–537.
https://doi.org/10.1111/j.1469....
9.
Fowler ES, Glinski LP, Reiser CA, Horton VK, Pauli RM. Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. J Dev Behav Pediatr. 1997;18(3):143–150.
https://doi.org/10.1097/000047....
11.
Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117–125.
https://doi.org/10.2147/TACG.S....
12.
Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA. Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthop. 1997;17(6):726–733.
https://doi.org/10.1097/012413....
13.
Takken T, van Bergen MW, Sakkers RJ, Helders PJ, Engelbert RH. Cardiopulmonary exercise capacity in children and adolescent with achondroplasia. J Pediatr. 2007;150(1):26–30.
https://doi.org/10.1016/j.jped....
14.
Kiebzak W, Kowalski IM, Kiebzak M. [The model of rehabilitation]. Rehab Med. 2008;12(2):31–33 [in Polish].
15.
Kowalski IM. Modern neurobiology and progress in rehabilitation. Adv Rehabil. 2005;1(1):121–125.
16.
Binkiewicz-Glińska A, Sobierajska-Rek A, Bakula S, et al. Arthrogryposis in infancy, multidisciplinary approach: case report. BMC Pediatr. 2013;13:184–199.
https://doi.org/10.1186/1471-2....
17.
Kiebzak W, Żurawski A, Dwornik M. Vojta method in the treatment of developmental hip dysplasia – a case report. Ther Clin Risk Manag. 2016;12:1271–1276.
https://doi.org/10.2147/TCRM.S....
18.
Jóźwiak S., Podogrodzki J. [Application and comparison of NDT-Bobath and Vojta methods in treatment of selected pathologies of the nervous system in children]. Przegl Lek. 2010; 67(1):64–66 [in Polish].
19.
Vojta V, Peters A. Das Vojta Prinzip. Berlin: Springer; 2007.
20.
Bobath B. The treatment of neuromuscular disorders by improving patterns of co-ordination. Physiotheraphy. 1969; 55(1):18–22.
21.
Raine S, Meadows L, Lynch-Ellerington M. Bobath Concept: Theory and Clinical Practice in Neurological Rehabilitation. Wiley-Blackwell; 2009.
https://doi.org/10.1002/978144....
22.
Ottenbacher KJ, Biocca Z, DeCremer G, Gevelinger M, Jedlovec KB, Johnson MB. Quantitative analysis of the effectiveness of pediatric therapy. Emphasis on the neurodevelopmental treatment approach. Phys Ther. 1986;66(7):1095–1101.
https://doi.org/10.1093/ptj/66....
23.
Tsorlakis N, Evaggelinou C, Grouios G, Tsorbatzoudis C. Effect of intensive neurodevelopmental treatment in gross motor function of children with cerebral palsy. Dev Med Child Neurol. 2004;46(11):740–745.
https://doi.org/10.1111/j.1469....
24.
Imamura S, Sakuma K, Takahashi T. Follow-up study of children with cerebral coordination disturbance (CCD, Vojta). Brain Dev. 1983;5(3):311–314.
https://doi.org/10.1016/S0387-....