Dataset Information

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?ConclusionsSSS 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.

SUBMITTER: Fredwall SO

PROVIDER: S-EPMC7249360 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Publications

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

Fredwall Svein O SO Steen Unni U de Vries Olga O Rustad Cecilie F CF Eggesbø Heidi Beate HB Weedon-Fekjær Harald H Lidal Ingeborg B IB Savarirayan Ravi R Månum Grethe G

Orphanet journal of rare diseases 20200525 1

<h4>Background</h4>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 o ...[more]

PMID: 32450891

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Project description:BackgroundAchondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia, but few studies have investigated hearing loss in adults with this condition.ObjectivesThis population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia.MethodsWe collected data on 45 adults with genetically confirmed achondroplasia: 23 men and 22 women, aged 16-70 years. All participants underwent a comprehensive audiologic assessment, including medical history, pure-tone audiometry, speech audiometry, and impedance audiometry. According to the Global Burden of Disease classification, pure-tone average ≥ 20 decibel hearing level (dB HL) was considered clinically significant hearing loss.ResultsInsertion of ventilation tubes had been performed in 44% (20/45) of the participants, 49% (22/45) had a history of adenoidectomy, while 20% (9/45) used hearing aids. Hearing loss in at least one ear was found in 53% (24/45) of the participants; in 57% (13/23) of the men and 50% (11/22) of the women. In the youngest age group (age 16-44 years), 50% (14/28) had hearing loss, although predominantly mild (20-34 dB HL). An abnormal tympanometry (Type B or C) was found in 71% (32/45) of the participants. The majority (15/24) had conductive hearing loss, or a combination of conductive and sensorineural hearing loss (8/24).ConclusionsAdults with achondroplasia are at increased risk of early hearing loss. Our findings underline the importance of a regular hearing assessment being part of standard care in achondroplasia, including adolescents and young adults. In adult patients diagnosed with hearing loss, an evaluation by an otolaryngologist should be considered, and the need for hearing aids, assistive listening devices, and workplace and educational accommodations should be discussed. Clinical trial registration ClinicalTrials.gov identifier NCT03780153.

Project description:BackgroundSymptomatic intracranial stenosis was perceived to convey a high risk of recurrent stroke, but two previous trials (SAMMPRIS and VISSIT) did not show superiority of intracranial stenosis stenting over intensive medical management alone. These findings were partly due to a lower than expected risk of recurrent stroke without stenting, possibly reflecting the young age of recruits (median age <60 years), and raise questions about generalisability to routine clinical practice. We therefore studied the age-specific prevalence, predictors, and prognosis of symptomatic intracranial stenosis in a population-based cohort of patients with transient ischaemic attack and minor stroke on intensive medical management.MethodsThe Oxford Vascular Study (OXVASC) is a prospective incidence cohort study of all vascular events in a population of 92 728 people residing in Oxfordshire, UK. All patients, irrespective of age, with transient ischaemic attack and minor ischaemic stroke occurring between March 1, 2011, and March 1, 2018 (follow-up to Sept 28, 2018), were ascertained with multiple methods, including assessment in a dedicated daily emergency clinic and daily review of all hospital admissions. Imaging was by MR angiography of the intracranial and cervicocranial arteries, by CT angiography if MR angiography was contraindicated, and by transcranial Doppler and carotid ultrasound if CT angiography was contraindicated. All patients received intensive medical treatment without stenting, and those with intracranial vascular imaging were analysed in our study, which assessed the age-specific prevalence of 50-99% intracranial stenosis and the associated stroke risk of 50-99% and 70-99% stenosis (adjusted for age and vascular risk factors) during follow-up to Sept 28, 2018.FindingsOf 1368 eligible patients with intracranial vascular imaging, 241 (17·6%) had 385 50-99% symptomatic or asymptomatic intracranial stenosis. The prevalence of symptomatic 50-99% intracranial stenosis increased from 29 (4·9%) of 596 at younger than 70 years to 10 (19·6%) of 51 at 90 years or older (ptrend<0·0001). Of 94 patients with 50-99% symptomatic intracranial stenosis, 14 (14·9%) had recurrent strokes (12 ischaemic and two haemorrhagic) during a median follow-up of 2·8 years (IQR 1·5-4·6). Although symptomatic intracranial stenosis conveyed an increased risk of ischaemic stroke compared with no intracranial stenosis (adjusted hazard ratio 1·43, 95% CI 1·04-1·96), the risk of same-territory ischaemic stroke in patients with 70-99% symptomatic intracranial stenosis tended to be less than those reported in the non-stenting groups of the previous trials (1-year risk 5·6% [95% CI 0·0-13·0] vs 9·4% [3·1-20·7] in VISSIT; 2-year risk 5·6% [0·0-13·0] vs 14·1% [10·1-19·4] in SAMMPRIS).InterpretationThe prevalence of 50-99% symptomatic intracranial stenosis increases steeply with age in predominantly Caucasian patients with transient ischaemic attack and minor ischaemic stroke. However, the risk of recurrent stroke on intensive medical treatment of symptomatic intracranial stenosis is consistent with the two previous randomised controlled trials in younger cohorts, supporting the generalisability of the trial results to routine practice.FundingWellcome Trust, Wolfson Foundation, British Heart Foundation, National Institute for Health Research, National Institute for Health Research Oxford Biomedical Research Centre, Association of British Neurologists.

Project description:Objective: To determine if the attractor for acceleration gait data is similar among healthy persons defining a reference attractor; if exercise-induced changes in the attractor in patients with symptomatic lumbar spinal stenosis (sLSS) are greater than in healthy persons; and if the exercise-induced changes in the attractor are affected by surgical treatment. Methods: Twenty-four healthy subjects and 19 patients with sLSS completed a 6-min walk test (6MWT) on a 30-m walkway. Gait data were collected using inertial sensors (RehaGait®;) capturing 3-dimensional foot accelerations. Attractor analysis was used to quantify changes in low-pass filtered acceleration pattern (δM) and variability (δD) and their combination as attractor-based index (δF = δM* δD) between the first and last 30 m of walking. These parameters were compared within healthy persons and patients with sLSS (preoperatively and 10 weeks and 12 months postoperatively) and between healthy persons and patients with sLSS. The variability in the attractor pattern among healthy persons was assessed as the standard deviation of the individual attractors. Results: The attractor pattern differed greatly among healthy persons. The variability in the attractor between subjects was about three times higher than the variability around the attractor within subject. The change in gait pattern and variability during the 6MWT did not differ significantly in patients with sLSS between baseline and follow-up but differed significantly compared to healthy persons. Discussion: The attractor for acceleration data varied largely among healthy subjects, and hence a reference attractor could not be generated. Moreover, the change in the attractor and its variability during the 6MWT differed between patients and elderly healthy persons but not between repeated assessments. Hence, the attractor based on low-pass filtered signals as used in this study may reflect pathology specific differences in gait characteristics but does not appear to be sufficiently sensitive to serve as outcome parameter of decompression surgery in patients with sLSS.

Project description:AimsWe aim to determine the temporal trends of incidence, prevalence, and death of aortic stenosis (AS, I35.0) in an East Asian population.Methods and resultsData for 3773 patients who were newly diagnosed with AS from 2006 through 2017 were extracted from the National Health Insurance Service in Korea. The age-standardized incidence rate, prevalence rate, and death rate, survival rate (SR), and death risk of AS were calculated. Overall, the mean (standard deviation) age of AS patients was 69.9 (15.3) years [66.2 (15.7) years for men and 72.7 (14.4) years for women (P = 0.007)], and the proportion of men was 42.7%. The proportion of AS patients ≥60 years old was 80% (71.8% in men and 86% in women, P < 0.001). The proportion of patients who died of AS was 36.4% during the period from 2006 through 2017. The most common causes of death were disease of the circulatory system. The age-standardized incidence, prevalence, and death rates in 2017 were 0.85, 2.79, and 0.58 persons per 100 000 persons, respectively. The 10 year SR was 49.2%. The higher adjusted HRs [95% CI] for AS were observed in 70- to 79-year-old people (9.08 [1.27, 64.7], P = 0.027), in individuals 80 years of age or older (22.7 [3.18, 161.9], P = 0.001), in men (1.46 [1.31, 1.63], P < 0.001), among the middle socioeconomic group (1.19 [1.03, 1.37], P = 0.016), among the lower income levels (1.32 [1.17, 1.49], P < 0.001), in those with myocardial infarction (1.57 [1.16, 2.13], P = 0.003), with heart failure (1.63 [1.44, 1.85], P < 0.001), with ischaemic stroke (3.26 [1.20, 8.85], P = 0.015), with haemorrhagic stroke (2.51 [1.94, 3.25], P = 0.02), with chronic kidney disease (2.51 [1.94, 3.25], P < 0.001), and with malignant neoplasm (2.33 [1.64, 3.31], P < 0.001).ConclusionsThe proportion of AS at age ≥60 years was 80%. For AS, the age-standardized incidence rates were steady, prevalence rates increased, and death rates decreased by year over a decade. The 10 year SR of AS was about 50%. The most common cause of death in AS was disease of the circulatory system. Given the progressively higher incidence of AS with age continued efforts are required to increase awareness regarding AS-related symptoms and potential complications in aged people.

Dataset Information

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

Background

Methods

Results

Publications

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

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