Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.

OBJECTIVES: To evaluate the performance of a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow-up and review patient choices for women with high-risk results. METHODS: In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP-based NIPT and subsequently evaluated. Follow-up was conducted for all cases with a high-risk result. RESULTS: Ninety-five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (PPV) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high-risk cases: 57.1% (48/84) had invasive testing and 42.9% (36/84) did not. Ultrasound anomalies were present in 81.8% of true-positive and 18.0% of false-positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing. CONCLUSIONS: Clinical experience with this SNP-based non-invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high-risk pregnancies.

Access to inpatient or residential substance abuse treatment among homeless adults with alcohol or other drug use disorders.

OBJECTIVES: We conducted a theoretically guided study of access to inpatient or residential treatment among a probability sample of homeless adults with alcohol or drug use disorders in Houston, Texas. METHODS: This study used a cross-sectional, retrospective design with data collected from a multistage random sample of 797 homeless adults age 18 or older who were living in Houston shelters and streets in 1996. Structured, face-to-face interviews produced screening diagnoses for alcohol and drug use disorders, treatment use data, and candidate predictors of treatment use. Logistic and linear regression analyses were performed on the subset of 326 homeless persons with either alcohol or drug use disorder. RESULTS: 27.5% of persons with substance use disorder had accessed inpatient or residential treatment during the past year. Controlling for additional need factors such as comorbidity, persons having public health insurance and a history of treatment for substance problems had greater odds of receiving at least one night of treatment. Contrary to expectation, contact with other service sectors was not predictive of treatment access. Schizophrenia and having a partner appeared to hinder access. Greater need for treatment was associated with fewer nights of treatment, suggesting retention difficulties. CONCLUSIONS: This study adds to previous findings on access to health care among homeless persons and highlights a pattern of disparities in substance abuse treatment access. Health insurance is important, but enhancing access to care involves more than economic considerations if homeless persons are to receive the treatment they need. Referral relationships across different service sectors may require strengthening.

Case management and quality of life: assessing treatment and outcomes for clients with chronic and persistent mental illness.

OBJECTIVE: To examine the impact of treatment setting and exposure to case management services on the quality of life of U. S. veterans with chronic and persistent mental illness. DATA SOURCES/STUDY SETTING: Data were collected longitudinally on a panel of 895 clients enrolled in 14 pilot programs in Department of Veterans Affairs long-term psychiatric hospitals by the Serious Mental Illness Treatment Research and Evaluation Center during the period 1991-96. STUDY DESIGN: Data were collected using two primary survey instruments (clinician assessment and client assessment) at baseline, every six months for the first two years, and every year thereafter, for a total of four years of follow-up. Case management exposure over time and its impact on the client's quality of life represent the key variables in the study. Additional controls included a variety of sociodemographic, socioeconomic, and psychiatric characteristics. DATA COLLECTION/EXTRACTION METHODS: Hierarchical linear modeling was used to control for potential selection bias, test for the compositional effect of treatment setting, and examine the impact of case management exposure over time on the individual client's quality of life. PRINCIPAL FINDINGS: Increased exposure to case management results in an improved quality of life across several domains, including both objective and subjective dimensions for health, general, leisure, and social, and the subjective dimension only for housing. CONCLUSIONS: The study findings provide managers, clinicians, and policymakers a fuller understanding of how this mode of service delivery-case management-affects several domains of quality of life for clients with chronic illnesses.

The temporal relationship between emotional distress and cigarette smoking during adolescence and young adulthood.

Empirical evidence regarding the causal nature of the relationship between emotional distress and tobacco use in male and female adolescents provides support for both the distress-to-use and the use-to-distress hypotheses. Using a cross-lagged model with 3 waves of data from 2,961 adolescents followed into young adulthood, the authors tested the hypothesis that this relationship changes over time. As hypothesized, emotional distress in Grade 10 was associated with increased smoking in Grade 12 for both boys and girls. Smoking in Grade 12 was in turn associated with increased emotional distress in young adulthood. The addition of 3 third factors (rebelliousness, deviance, and family problems) to the model did not alter the results. Results suggest that the relationship between tobacco use and emotional distress is a dynamic one in which distress initially leads to use but then becomes exacerbated by it over time.

The effects of treatment team diversity and size on assessments of team functioning.

Team-based health care assumes that groups representing multiple disciplines can work together to implement care plans that are comprehensive and integrated. It also assumes that professionals can function effectively in an interdependent relationship with members of other occupational groups. However, we know little about what makes effective team functioning. This article examines the factors related to health care team functioning, with specific emphasis on team demographic composition and size. Hierarchical linear modeling is used to analyze 106 Veterans Affairs (VA) hospitals. Results indicate that individuals who operate on more heterogenous and larger teams have lower perceptions of team functioning.