3. Early epidemiologic studies of Tay-Sachs disease

Publisher Summary This chapter illustrates the early Epidemiologic studies of Tay-Sachs disease (TSD), known only to a modest number of physicians as an arcane storage disorder of infancy, a morbid footnote in the lengthier pediatric texts. Few infants arrested with cerebral development, blindness, hyperacusis, and bizarre retinal change called the “cherry-red spot”, were brought to the unit for diagnostic evaluation and inpatient. The early investigative effort was necessarily primitive, diffuse, and at best marginal to the fundamental metabolic defect of TSD. A host of essentially noninvasive, serial measurements were recorded in order to achieve some notion of the evolution and trajectory of the disease. The expanding collection of cases of Tay-Sachs and allied diseases demanded a more extensive record-keeping system which could then be explored for genetic and epidemiologic insights. An archive was begun and a lengthy questionnaire was devised which sought information pertaining to three generations of maternal and paternal forebears of each proband, their religions, places of birth, occupations, fertilities, illnesses, general causes of death, and ages at death. After appropriate permission, medical records, including autopsies, from other sources and institutions were incorporated in each TSD family record whenever possible.