Abstract
OBJECTIVES--To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS--Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examined clinically and in many cases with cranial computerised tomography, renal ultrasound, and skeletal survey but not echocardiography. They provide an unbiased group of tuberous sclerosis patients and allow affected patients with normal intellect to be diagnosed. PATIENTS--Thirty-seven tuberous sclerosis families were ascertained and 26 patients born after the family proband were identified. RESULTS--Sixteen of these 26 patients suffered fits (62%) and 10 patients were mentally retarded (38%). CONCLUSIONS--A lower incidence of fits and mental retardation has been found in an unbiased sample of tuberous sclerosis patients. The lifetime risk for fits might be higher had we been able to follow the patients for longer. However, we believe these are more appropriate figures to use in genetic counselling for this disease.
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Selected References
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- Bundey S., Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry. 1969 Dec;32(6):591–603. doi: 10.1136/jnnp.32.6.591. [DOI] [PMC free article] [PubMed] [Google Scholar]
- FISHER O. D., STEVENSON A. C. Frequency of epiloia in Northern Ireland. Br J Prev Soc Med. 1956 Jul;10(3):134–135. doi: 10.1136/jech.10.3.134. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fryer A. E., Chalmers A., Connor J. M., Fraser I., Povey S., Yates A. D., Yates J. R., Osborne J. P. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987 Mar 21;1(8534):659–661. doi: 10.1016/s0140-6736(87)90416-8. [DOI] [PubMed] [Google Scholar]
- Hunt A., Lindenbaum R. H. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet. 1984 Aug;21(4):272–277. doi: 10.1136/jmg.21.4.272. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Monaghan H. P., Krafchik B. R., MacGregor D. L., Fitz C. R. Tuberous sclerosis complex in children. Am J Dis Child. 1981 Oct;135(10):912–917. doi: 10.1001/archpedi.1981.02130340024010. [DOI] [PubMed] [Google Scholar]
- Nevin N. C., Pearce W. G. Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet. 1968 Dec;5(4):273–280. doi: 10.1136/jmg.5.4.273. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Osborne J. P. Diagnosis of tuberous sclerosis. Arch Dis Child. 1988 Dec;63(12):1423–1425. doi: 10.1136/adc.63.12.1423. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pampiglione G., Moynahan E. J. The tuberous sclerosis syndrome: clinical and EEG studies in 100 children. J Neurol Neurosurg Psychiatry. 1976 Jul;39(7):666–673. doi: 10.1136/jnnp.39.7.666. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Umapathy D., Johnston A. W. Tuberous sclerosis: prevalence in the Grampian region of Scotland. J Ment Defic Res. 1989 Aug;33(Pt 4):349–355. doi: 10.1111/j.1365-2788.1989.tb01486.x. [DOI] [PubMed] [Google Scholar]
- Wiederholt W. C., Gomez M. R., Kurland L. T. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology. 1985 Apr;35(4):600–603. doi: 10.1212/wnl.35.4.600. [DOI] [PubMed] [Google Scholar]
- Zaremba J. Tuberous sclerosis: a clinical and genetical investigation. J Ment Defic Res. 1968 Mar;12(1):63–80. doi: 10.1111/j.1365-2788.1968.tb00243.x. [DOI] [PubMed] [Google Scholar]