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. 2020 May 25;15(1):123.
doi: 10.1186/s13023-020-01397-6.

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Svein O Fredwall  1   2 , Unni Steen  3 , Olga de Vries  3 , Cecilie F Rustad  4 , Heidi Beate Eggesbø  5 , Harald Weedon-Fekjær  6 , Ingeborg B Lidal  3 , Ravi Savarirayan  7 , Grethe Månum  8   9
Affiliations

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Svein O Fredwall et al. Orphanet J Rare Dis. .

Erratum in

Abstract

Background: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently. Furthermore, the relationship between SSS and physical functioning has not been investigated in detail. The aims of this study were to describe the prevalence of SSS in Norwegian adults with achondroplasia, and to explore the impact of SSS on physical functioning.

Methods: This was a population-based study on Norwegian community-dwelling adults with genetically confirmed achondroplasia. Prevalence of SSS was defined by clinical symptoms, and confirmed by imaging or surgical reports. Physical functioning was assessed by walking capacity (6-min walk test), hand strength (Grippit), and activities of daily living (the Health Assessment Questionnaire, HAQ). Pain was assessed by pain site locations and intensity (Numeric Rating Scale, NRS).

Results: In total, 50 participants were included (27 males, 23 females). Median age was 41 years (range 16 to 87 years), 34 (68%) had SSS. The estimated median age at first symptom onset was 33 years (95% confidence interval (CI) 29 to 43 years), range 10 to 67 years. The majority had multiple spinal levels affected. The walking distance was 110 m shorter in the SSS group (95% CI - 172 to - 40 m) as compared with the non-SSS group (p < 0.01). There was no considerable difference in hand strength between the two groups. Mean HAQ scores (0-3) for walking and hygiene were significantly higher in the SSS group, reflecting more activity limitations. Mean differences were 0.9 (95% CI 0.3 to 1.4, p < 0.01) and 0.6 (95% CI 0.2 to 1.0, p < 0.01). Pain intensity (NRS 0-10) was also significantly higher in the SSS group with a mean difference of 3.2 (95% CI 0.6 to 5.6, p = 0.02).

Conclusions: SSS was highly prevalent in Norwegian adults with achondroplasia, with symptom onset at young age, and multiple spinal levels affected. The presence of SSS was associated with reduced walking distance, activity limitations, and more pain. The findings underline the importance of thorough assessment and monitoring of SSS in achondroplasia, including a formal assessment of physical functioning.

Keywords: 6-minute walk test; Achondroplasia; Activities of daily living; Adults; Hand strength; Pain; Spinal stenosis.

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Conflict of interest statement

SOF has received a consulting fee from BioMarin. The authors have completed the ICMJE form and have declared no conflict of interest.

Figures

Fig. 1
Fig. 1
Flow of inclusion. a National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital. b The University Hospitals in Oslo, Bergen, Trondheim and Tromsø. c The Norwegian Restricted Growth Association (Norsk Interesseforening for Kortvokste). d You Tube, Facebook and Dagbladet Magasinet. e Had another or no skeletal dysplasia
Fig. 2
Fig. 2
Symptomatic spinal stenosis (SSS) by age in adults with achondroplasia. The estimates are based on SSS status at time of inclusion in the study (dotted logistic regression curve) and interview data regarding age at symptom onset (drawn Kaplan-Meier curve). Based on the Kaplan-Meier plot, we estimate that 65% (95% confidence interval 44 to 78%) will have SSS by the age of 40, and 83% (95% confidence interval 62 to 93%) by the age of 45
Fig. 3
Fig. 3
Function in activities of daily living (ADL) in adults with achondroplasia assessed by the Health Assessment Questionnaire (HAQ) for individuals with symptomatic spinal stenosis (SSS) and without (non-SSS). The number of individuals reporting high difficulty score (much difficulty or not able to) was higher in the SSS group for all the HAQ categories compared with the non-SSS group, reflecting more limitations in ADL
See this image and copyright information in PMC

References

    1. Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dynamics. 2017;246(4):291–309. - PMC - PubMed
    1. Carlisle ES, Ting BL, Abdullah MA, Skolasky RL, Schkrohowsky JG, Yost MT, et al. Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function. Spine. 2011;36(11):886–892. - PubMed
    1. Schkrohowsky JG, Hoernschemeyer DG, Carson BS, Ain MC. Early presentation of spinal stenosis in achondroplasia. J Pediatr Orthop. 2007;27(2):119–122. - PubMed
    1. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1. - PMC - PubMed
    1. Kreiner DS, Shaffer WO, Baisden JL, Gilbert TJ, Summers JT, Toton JF, et al. An evidence-based clinical guideline for the diagnosis and treatment of degenerative lumbar spinal stenosis (update) Spine J. 2013;13(7):734–743. - PubMed

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