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

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.

Cardiovascular risk factors and body composition in adults with achondroplasia

“…Details of the recruitment process, inclusion, and exclusion criteria have been described elsewhere. 21 1 Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. 2 Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.…”

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study

“…Table 1 details the characteristics of the study population. All participants had genetically confirmed achondroplasia [ 24 ]. Of those with a preexisting diagnosis of OSA (n = 15), as diagnosed by polysomnography, the previous sleep records were not accessible for three participants.…”

“…Finally, the exact prevalence of achondroplasia within Norway is uncertain. We have estimated the expected population of adults (16 years or older) with achondroplasia in Norway to be between 66 and 101 adults [ 24 ]. As this study included somewhat fewer participants, there is a risk of selection bias that could have affected these outcomes.…”

“…This cross-sectional study was part of The Norwegian Adult Achondroplasia Study, a population-based study conducted between 2017 and 2019 on community-dwelling, Caucasian adults, aged 16 years or older, living in Norway [ 24 ]. Details of the recruitment process, and inclusion and exclusion criteria in The Norwegian Adult Achondroplasia Study have been described elsewhere [ 24 ].…”

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

“…Following the publication of the original article [ 1 ], the authors became aware of the following error in Table 2:…”