Craniofacial screening profile: quick screening for congenital malformations.

The correct identification of syndromes and other congenital malformations at an early age is critical for the child, family and care providers. Most specialists who conduct large screenings of young children are not adequately trained to recognize signs and symptoms that should lead to appropriate referral to the clinical geneticist and/or diagnostic team. A systematic approach for recognizing important signs is presented here; a Craniofacial Screening Profile. Following a brief training program, the Profile was validated by 39 speech-language pathologists in screening 3,539 kindergarten and first grade children. The results were excellent (specificity was 99.6%), demonstrating that with limited training, specialists can effectively screen for important signs and symptoms of a major group of syndromes and other congenital malformations.

Symbolic representation of cleft lip and palate.

Since the introduction of symbolic representations of cleft lip and palate anomalies in 1964, they have served the clinician as a quick and easy method of recording these disorders. This paper reviews the evolution of the schematic classification systems and evaluates them. It then presents a new scheme that synthesizes what the authors feel are the most advanced of the existing symbolic representations. This proposed new symbolic representation scheme also specifically provides for ratings of severity (including the documentation of microforms) and facilitates computerized data storage and analysis.

Incidence and prevalence of cleft lip and palate: what we think we know.

The descriptive epidemiology of the spectrum of orofacial cleft disorders has many methodologic problems, including (1) casefinding using data sources such as birth certificates, fetal death certificates, and hospital records that often produce ascertainment bias, selection bias, or both and (2) the multiple comparisons problem (i.e., the chance occurrence of statistically significant findings). The resultant incidence and prevalence rates from studies with inadequate designs or inadequate data are limited and may be misleading. A variety of reasons is advanced to explain the wide discrepancies in reported statistics on orofacial clefting from different geographic areas, ethnic groups, and time periods. Specific recommendations are offered for producing better epidemiologic data. An example of how higher quality descriptive statistics can be used for future hypothesis testing is also provided.

Theories of the etiology of multiple sclerosis: a critical review.

In summary, research studies to date have not identified a unitary cause of MS; rather, genetic predisposition (particularly, inherited immunoregulatory abnormalities) and environmental links in the causal chain of disease (antigenic exposures, trauma, or other insults) have been postulated to interact with each other and with additional host susceptibility factors (acquired faulty immune system regulation, age, nutritional status, endocrine status, etc.). Two mechanisms have been proposed as their final common pathway: dysmyelination (i.e., defective myelin production) and inadequate myelin maintenance. Myelin production, turnover rate, and neurological function are all apparently normal prior to disease onset, although studies addressing possible preexisting lipoprotein metabolic defects have not been performed in MS patients as in laboratory animals. The demyelination process characteristic of the disease appears to result from inadequate maintenance due to an active degradative process, rather than from deficient formation or a simple passive metabolic imbalance between anabolic and catabolic processes, as had been suggested by Sperry and Waelsch (205). Among other lines of evidence, it is offered that deficient replacement postpubertally would not explain the rapid onset of symptoms often seen in MS. Accelerated myelin destruction could be due either to faulty regulation of the rate-limiting enzymes, for which there is no substantiation, or to immune system malfunction, for which the evidence is mounting. Immune system attack seems to be both humoral and cell-mediated, but the triggers remain unknown. This article has briefly but critically reviewed toxins, trauma, thrombosis, subacute fat embolism, viruses, and biochemical factors in the etiology of MS, with emphasis on hormonal and other types of mediation of the immune response.

Pica: an overview.

Pica is the persistent, compulsive ingestion of food or nonfood substances. It is a worldwide problem that has no barriers of age, race, sex or geographic region. Its high prevalence in the United States is largely unrecognized. Causes and risk factors for pica are not well established, although mineral deficiencies and culturally ingrained food preferences play a role. For diagnosis, pica must be suspected and sought. Physicians must be aware that pica can be cured and that prevention can be lifesaving.

Rates of senile dementia, Alzheimer's type, in the Baltimore Longitudinal Study.

Research participants (519) in the ongoing Baltimore Longitudinal Study, Gerontology Research Center, National Institute on Aging, from 1958-1978 were screened for new onset of Senile Dementia-Alzheimer's Type (SDAT), a global and progressive cognitive disorder. Their medical record abstracts were reviewed by two psychiatrists, who applied algorithmic criteria to identify 27 incident cases and date onsets. Intrarater bias, interrater reliability, and concurrent validity of the case ascertainment methods were assessed. A radix was created to estimate age-specific incidence rates, prevalence rates, remaining lifetime morbid risk for the disease-free and expected years of impairment with disease. Incidence was modeled as an exponential function of chronological age beyond 60. Survival analysis failed to detect premature death among SDAT cases; death rates depended only on chronological age--not on disease acquisition, duration, or age at onset. Prevalence at every age depended on incidence, exceeding 50% among those 95 and over.

Critique of an earlier study of the Sacramento Medical Care Foundation's Certified Hospital Admission Program (CHAP).

The Certified Hospital Admission Program (CHAP), which was originated by the Medical Care Foundation of Sacramento, California, is regarded as a prototype of admission certification programs and the concurrent monitoring of inpatient care. These peer review functions have now been made key elements of provider utilization review requirements and of Professional Standards Review Organizations' program operations for Medicare and Medicaid. The present article questions, on methodological and interpretive grounds, earlier published findings and conclusions about CHAP's effectiveness. Significant deficiencies in evaluating its impact may mean that the success of CHAP has not yet been demonstrated and, hence, that an adequate basis for formulating certain national peer review policies may not exist.