Dataset Information

Prevalence of neurogenetic disorders in the North of England.

ABSTRACT:

Objective

Genetic disorders enter the differential diagnosis of common neurologic diseases, but their overall prevalence is not known. We set out to determine their minimum prevalence.

Methods

Meta-analysis of epidemiologic data gathered from the same geographic region in the North of England.

Results

Monogenic neurologic disorders affect at least 90.9/100,000 (95% confidence interval 87.6-94.3), or 1 in 1,100 of the population in Northern England.

Conclusion

As a group, neurogenetic disorders are not rare. These findings have implications for clinical service delivery.

SUBMITTER: Bargiela D

PROVIDER: S-EPMC4607600 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Prevalence of neurogenetic disorders in the North of England.

Bargiela David D Yu-Wai-Man Patrick P Keogh Michael M Horvath Rita R Chinnery Patrick F PF

Neurology 20150904 14

<h4>Objective</h4>Genetic disorders enter the differential diagnosis of common neurologic diseases, but their overall prevalence is not known. We set out to determine their minimum prevalence.<h4>Methods</h4>Meta-analysis of epidemiologic data gathered from the same geographic region in the North of England.<h4>Results</h4>Monogenic neurologic disorders affect at least 90.9/100,000 (95% confidence interval 87.6-94.3), or 1 in 1,100 of the population in Northern England.<h4>Conclusion</h4>As a gr ...[more]

PMID: 26341866

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Project description:Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data has been proposed for reliable estimation of disorder prevalence in dogs. Electronic patient record (EPR) data were collected on 148,741 dogs attending 93 clinics across central and south-eastern England. Analysis in detail of a random sample of EPRs relating to 3,884 dogs from 89 clinics identified the most frequently recorded disorders as otitis externa (prevalence 10.2%, 95% CI: 9.1-11.3), periodontal disease (9.3%, 95% CI: 8.3-10.3) and anal sac impaction (7.1%, 95% CI: 6.1-8.1). Using syndromic classification, the most prevalent body location affected was the head-and-neck (32.8%, 95% CI: 30.7-34.9), the most prevalent organ system affected was the integument (36.3%, 95% CI: 33.9-38.6) and the most prevalent pathophysiologic process diagnosed was inflammation (32.1%, 95% CI: 29.8-34.3). Among the twenty most-frequently recorded disorders, purebred dogs had a significantly higher prevalence compared with crossbreds for three: otitis externa (P = 0.001), obesity (P = 0.006) and skin mass lesion (P = 0.033), and popular breeds differed significantly from each other in their prevalence for five: periodontal disease (P = 0.002), overgrown nails (P = 0.004), degenerative joint disease (P = 0.005), obesity (P = 0.001) and lipoma (P = 0.003). These results fill a crucial data gap in disorder prevalence information and assist with disorder prioritisation. The results suggest that, for maximal impact, breeding reforms should target commonly-diagnosed complex disorders that are amenable to genetic improvement and should place special focus on at-risk breeds. Future studies evaluating disorder severity and duration will augment the usefulness of the disorder prevalence information reported herein.

Dataset Information

Prevalence of neurogenetic disorders in the North of England.

Objective

Methods

Results

Conclusion

Publications

Prevalence of neurogenetic disorders in the North of England.

Similar Datasets

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