Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND: Algorithms describe clinical choices to treat a specific disorder. To many, algorithms serve as important tools helping practitioners make informed choices about how best to treat patients, achieving better outcomes more quickly and at a lower cost. Appearing as flow charts and decision trees, algorithms are developed during consensus conferences by leading experts who explore the latest scientific evidence to describe optimal treatment for each disorder. Despite a focus on "optimal" care, there has been little discussion in the literature concerning how costs should be defined and measured in the context of algorithm-based practices. AIMS OF THE STUDY: This paper describes the strategy to measure costs for the Texas Medication Algorithm project, or TMAP. Launched by the Texas Department of Mental Health and Mental Retardation and the University of Texas Southwestern Medical Center at Dallas, this multi-site study investigates outcomes and costs of medication algorithms for bipolar disorder, schizophrenia and depression. METHODS: To balance costs with outcomes, we turned to cost-effectiveness analyses as a framework to define and measure costs. Alternative strategies (cost-benefit, cost-utility, cost-of-illness) were inappropriate since algorithms are not intended to guide resource allocation across different diseases or between health- and non-health-related commodities. "Costs" are operationalized consistent with the framework presented by the United States Public Health Service Panel on Cost Effectiveness in Medicine. Patient specific costs are calculated by multiplying patient units of use by a unit cost, and summing over all service categories. Outpatient services are counted by procedures. Inpatient services are counted by days classified into diagnosis groups. Utilization information is derived from patient self-reports, medical charts and administrative file sources. Unit costs are computed by payer source. Finally, hierarchical modeling is used to describe how costs and effectiveness differ between algorithm-based and treatment-as-usual practices. DISCUSSION: Cost estimates of algorithm-based practices should (i) measure opportunity costs, (ii) employ structured data collection methods, (iii) profile patient use of both mental health and general medical providers and (iv) reflect costs by payer status in different economic environments. IMPLICATION FOR HEALTH CARE PROVISION AND USE: Algorithms may help guide clinicians, their patients and third party payers to rely on the latest scientific evidence to make treatment choices that balance costs with outcomes. IMPLICATION FOR HEALTH POLICIES: Planners should consider consumer wants and economic costs when developing and testing new clinical algorithms. IMPLICATIONS FOR FURTHER RESEARCH: Future studies may wish to consider similar methods to estimate costs in evaluating algorithm-based practices.
...
PMID:Measuring costs of guideline-driven mental health care: the Texas Medication Algorithm Project. 1196 19

Reduction of intelligence should be differentiated from interference with the use of intelligence by such non-intellective factors as partial deafness and emotional disturbance. The parents of a retarded child want an assessment, a prediction of the eventual achievement level, and a causal explanation if possible. There are varying degrees of knowledge of causation, from recognition of reduced intelligence only, to an understanding of the mechanism of causation in considerable detail from primary cause to ultimate consequence, as in phenylketonuria or isoimmunization. A diagnosis should be as complete as possible, using available modern techniques of investigation, such as chromatography and cytogenetic studies.AMONG THE RECENTLY DESCRIBED SYNDROMES ASSOCIATED WITH MENTAL RETARDATION ARE: (1) spastic paralysis and congenital ichthyosis; (2) Rud's syndrome; (3) deaf-mutism, infantilism, ataxia and a disturbance of hormone metabolism; and (5) sex-linked deaf-mutism.
...
PMID:MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES. 1408 87

OBJECTIVE: To discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and autism. SOURCES: The authors carried out a bibliographic review on each syndrome involved, correlating and characterizing the neurological manifestations, as well as describing genetic mechanisms and identifying biological markers. SUMMARY OF THE FINDINGS: The authors were able to confirm that Rett Sydrome is a genetic disease resulting from the mutation of the MECP2 gene and clinical variations can be explained by different mutations in this gene. Angelman syndrome has four genetic mechanisms responsible for phenotypic variations and different risks of recurrence. In Fragile-X syndrome, the degree of cognitive impairment is related to the number of trinucleotide repeats. CONCLUSIONS: Different genetic mechanisms of the three syndromes are responsible for clinical variability. By identifying the biological markers, the diagnosis will be performed earlier and it will be possible to identify new subtle expressions of the disease.
...
PMID:[Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes] 1467 69