Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders.

Few registries are available for evaluating population differences for rare, newly, or ill-defined pediatric neurologic disorders. The purpose of this article is to present standard methodologies for establishing a population-based registry and evaluating the completeness of a registry's case ascertainment. The Texas Rett Syndrome Registry (TRSR) is used as a model. The combination of health care and education resources has identified approx. 89-100% of the Rett syndrome cases in Texas. Cases reported by non-physician sources, although older on average (10.7 vs 7.7 years of age), did not differ by other demographic characteristics from those reported by physicians. Non-physician health and education professionals participated with the TRSR at a significantly higher rate than physicians, 89 and 37% (p < 0.05), respectively. Capture-recapture techniques, both two-sample and log-linear modeling, were used to quantitatively evaluate case ascertainment. Standardized national and international population-based registries could be the basis of an initiative to identify the etiology and perhaps preventive measures for pediatric neurologic disorders.

Epidemiology of Rett syndrome: a population-based registry.

The Texas Rett Syndrome Registry maintains the largest population-based registry of cases and potential cases of Rett syndrome in the world. The most precise estimate of the prevalence of Rett syndrome of 1 per 22800 (0.44/10000) females aged 2 through 18 years of age was generated from this Registry. In addition, the first prevalence figures for black and Hispanic female cases were estimated. Registry cases are actively ascertained from multiple sources. Registry staff identify presumptive cases from review of information provided to the Registry by the parent or guardian. Preliminary diagnostic evaluation includes standardized review of medical records and videotape of key behaviors. Diagnosis is confirmed at clinical evaluation. The active surveillance system is monitored with the two-source capture-recapture methodology and case ascertainment is projected. The 1990 prevalence estimate of Rett syndrome indicates that the syndrome occurs less frequently than previously estimated. Until a biologic marker for Rett syndrome is identified or a standard definition for an incident case of Rett syndrome is designated, the prevalence of Rett syndrome will remain a major investigative issue of its epidemiology, and the Registry will be an important, systematic mean to gather case material for clinical and laboratory studies providing the foundation for the development of preventive interventions.

A cluster classification for histologic diagnoses of CNS tumors in an epidemiologic study.

This paper introduces a method which was utilized to sort multiple pathologic diagnoses pertaining to brain tumors into clusters of equivalent diagnostic terms for an epidemiological study of brain cancer. The method enabled the medical record abstractors to ascertain cases for the study. It enabled the reviewing pathologist to identify differences between original and reviewed diagnoses. It identified the large range of classification systems of brain tumors used by practicing pathologists as a factor contributing to confusion of data if slide reviews are not incorporated into epidemiological studies, and demonstrated how the use of a cluster classification alleviates this problem.

Development and evaluation of modifications to the Sickness Impact Profile for head injury.

Three modifications were made to the Sickness Impact Profile, a behavior-based measure of health status, to improve its sensitivity to the effects of head injury. (1) Additional items were included to capture head injury sequelae and behaviors typical of young adults, the age group to which head injury most frequently occurs. (2) Subjects individually excluded behaviors irrelevant to them, thus allowing the score to better reflect injury-related changes. (3) The different areas of functioning on the Sickness Impact Profile were reweighted to reflect global judgments of the construct's contribution to overall functioning rather than the sum of the item contributions. Only the first modification is head-injury specific. The others, are relevant to any disease or injury. The performance of the modifications was evaluated in a longitudinal study of 102 head injured and 102 comparison subjects tested at 1 and 12 months after injury. The evaluation of the modifications was based on their ability to distinguish head injury from comparison subjects and on the strength of their relationship with measures of brain dysfunction. Despite a few statistically significant improvements in discrimination, differences of a practical degree were not obtained. The standard Sickness Impact Profile performed well and is recommended for evaluation of day-to-day functioning in head injury studies.

Cinromide in epilepsy: a pilot study.

Monotherapy with the experimental antiepileptic drug cinromide was evaluated in 11 adult outpatients with uncontrolled partial epilepsy. They were treated with phenytoin for 2 months, cinromide for 4 months, and carbamazepine for 4 months. Four patients withdrew from the study during or shortly after crossover to cinromide due to increased seizure frequency or severity. Of the remainder, three preferred carbamazepine, two cinromide, and two phenytoin, based on both seizure control and degree of toxicity. Overall seizure control was not significantly different with any of the three agents, but during cinromide administration secondarily generalized seizure control was uniformly worst and there was also a tendency toward decreased performance on neuropsychological tests. CNS toxicity and gastrointestinal toxicity were prominent during the first month of cinromide treatment, but subsided with time or dose reduction. No abnormalities requiring drug withdrawal were found with laboratory testing. The results suggested, at best, a very limited clinical usefulness for cinromide, and it has been withdrawn from testing by its manufacturer.

Treadmill test responses to an early exercise program after myocardial infarction: a randomized study.

The effects of an exercise program started early after myocardial infraction and the added effects of an outpatient teaching-counseling program were studied. At random, 84 patients were allocated to a control group (A), 88 patients to an exercise group (B1) and 86 patients to an exercise and teaching-counseling group (B2). The same exercise program was prescribed for patients in groups B1 and B2 and was started about 4.5 days after myocardial infarction and continued for 3 months. The outpatient teaching-counseling program consisted of eight group sessions pertaining to risk factor reduction and psychosocial adjustment to myocardial infraction. A low-level treadmill test and an exercise test were performed at 3 months and the exercise test was repeated at 6 months. The clinical, hemodynamic and electrocardiographic responses to these tests were not different among the three groups. However, by the end of 3 months, patients in group B1 and B2 reported walking greater distances than patients in group A. The incidence of morbidity and mortality was not different between the groups. No deleterious or beneficial physiologic effects of an exercise program either by itself or combined with a teaching-counseling program were demonstrated. Routine medical care and our interventions were equally effective in permitting the spontaneous hemodynamics improvements after myocardial infraction. More than 3 months after myocardial infarction, the group as a whole manifested spontaneous recovery in the form of a significant decrease in resting heart rate (p less than 0.001) and a significant increase in systolic and diastolic blood pressure at rest and with submaximal exercise (p less than 0.001). No further improvements were observed between 3 and 6 months.

In-hospital exercise after myocardial infarction does not improve treadmill performance.

Prolonged bed rest after myocardial infarction is thought to result in deconditioning, manifested by increased heart-rate and blood-pressure responses to exercise and decreased functional capacity. We studied the effects of early, supervised exercises in preventing deconditioning after acute myocardial infarction. Eighty-four patients were randomized to a control group and 174 to an exercise group. Enrollment in the exercise program occurred an average of 4.5 days after admission (range, one to nine). Discharge from the hospital occurred an average of 10.3 days after admission in the control group and 10.4 days in the exercise group. Most patients had a low-level treadmill test on the day before hospital discharge. There were no differences between the two groups in the clinical, hemodynamic, or electrocardiographic responses to the treadmill test. Incidences of complications and deaths (one death in each group) during hospitalization were not significantly different in the two groups, although six patients (3 per cent, all in the exercise group) required cardiac surgery--four because of recurrent chest pain and two because of rupture of heart muscle. Thus, we were unable to demonstrate any significant beneficial or deleterious effects of an early, in-hospital exercise program.

Dormont High School (Pittsburgh, Pennsylvania) blood pressure study.

A cohort of high school students examined in a school health study between 1957-63 were followed to 1977, when as adults still living in the area, 373 (71%) were reexamined. Mean age at 17-year follow-up was 34 years. The mean systolic blood pressure (SBP) at follow-up for men was 125 mm Hg, women 111 mm Hg. The boys' SBP had increased 4.0 Hg while the girls' declined 4.0 mm Hg in 17 years. The boys had gained an average of 37.2 lbs, and 1 inch, the girls 16.7 lbs, and 0.5 inch. Tracking was studied in several ways. The correlation coefficient of the SBP taken 17 years apart ws 0.44 for boys and 0.39 for girls. Current SBP was 115 mm Hg for boys with the lowest tenth of high school SBPs and 131 mm Hg for the boys in the highest tenth. Thirty-nine had hypertension, DBP greater than or equal to 90, or were on antihypertensive medication. They had had substantially higher SBP and weight in high school, and had gained more weight from high school to adult life than controls. After adjusting for high school SBP, weight gain for boys was the major determinant of subsequent high blood pressure (BP).