Prevalence of tuberous sclerosis estimated by capture-recapture analysis

  title={Prevalence of tuberous sclerosis estimated by capture-recapture analysis},
  author={Finbar O'callaghan and Alistair W. Shiell and John P Osborne and Christopher N. Martyn},
  journal={The Lancet},

Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis.

The prevalence of lymphangioleiomyomatosis is higher than that previously recorded and that many patients with LAM are undiagnosed, suggesting a large number of patients remain undi diagnosed.

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

This prospective surveillance study demonstrates a low age at first diagnosis of TSC in children and adolescents, likely due to antenatal detection of cardiac rhabdomyoma, using current revised criteria for TSC.

Prevalence of chronic pain with or without neuropathic characteristics in France using the capture–recapture method: a population-based study

This first electronic health record–based study on CP using the capture–recapture method revealed a high prevalence of CP, with a significant proportion of neuropathic pain patients.

Prevalence of Tuberous Sclerosis Complex in Taiwan: A National Population-Based Study

The low prevalence of TSC in Taiwan might result from differences in penetrance, family planning, ethnic groups, and disease-modifying genes.

Capture-recapture: a useful methodological tool for counting traffic related injuries?

  • A. MorrisonD. Stone
  • Medicine
    Injury prevention : journal of the International Society for Child and Adolescent Injury Prevention
  • 2000
Using capture-recapture it is found that routine databases enumerate TRI fatalities accurately, in contrast to injury morbidity databases that do not.

Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis

The quality of life of adult patients with TS is diminished compared to the general population, and the condition is less severe with less frequent epileptic seizures and intellectual disability.

Clinical, Genetic and Quality of Life Study of a Cohort of Adult Patients With Tuberous Sclerosis

Up to 50% of adult patients with TS were diagnosed in adulthood, and the condition is less severe with less frequent epileptic seizures and intellectual disability, compared to the general population.

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes, heart, and lungs, is summarized.

Estimating prevalence in single-gene kidney diseases progressing to renal failure.

Although their impact in terms of morbidity, hospitalizations, mortality, and cost to society is high, this review shows that information on the prevalence of single-gene kidney diseases is far from complete.



Frequency of Epiloia in Northern Ireland

None of the thirteen living parents, who were all examined, show any signs of the trait, and none of the parents are known to be related in any way, and no history was obtained of major skin stigmata and their occupations do not suggest mental defect.


Neurological complications and other causes of morbidity were studied in 122 of 131 individuals with tuberous sclerosis and learning disorder was strongly correlated with age at onset of seizures, type of seizure and outcome for seizure control.

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation was seen in six apparently unrelated patients, which suggests that hamartin acts as a tumor suppressor.