Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.

Methionine adenosyltransferase I/III deficiency, also known as Mudd's disease, is a rare inborn error of methionine metabolism. Because pathophysiological mechanisms of the disease remain poorly understood, the consequences of this disorder and the need for medical management remain uncertain; likewise, the effect of medical interventions on clinical outcomes in Mudd's disease is largely unknown due to a relative lack of published longitudinal clinical data. There are few reports of adults in the medical literature affected with this disease. Clinical symptoms of reported adults range from asymptomatic to individuals with neurological, developmental, or behavioral symptoms. Here we report three siblings affected with Mudd's disease that were ascertained following an abnormal newborn screen for hypermethioninemia in the case of our index patient. All three had a variable degree of longstanding neurologic or psychiatric symptoms which had not prompted a clinical investigation for a genetic or metabolic disorder prior to identification through our clinic. While the causal association of these symptoms to the metabolic disorder remains unclear in these cases, all three patients demonstrated a degree of amelioration of symptoms and/or improvement in measurements on standardized psychiatric ratings scales when specific therapy for the metabolic disorder was instituted. The symptoms, treatment, and outcomes over the course of six years of follow-up are presented here, expanding the possible natural history of Mudd's disease.

A randomized study of the effect of anonymity, quasi-anonymity, and Certificates of Confidentiality on postpartum women's disclosure of sensitive information.

BACKGROUND: Under-reporting of substance use and other sensitive information is a substantial threat to internal study validity, particularly during the perinatal period. Anonymous approaches are associated with greater disclosure but are incompatible with longitudinal follow-up. Alternative approaches include use of a U.S. Federal Certificate of Confidentiality (CoC) and quasi-anonymous methods, in which there is no link between name and data. However, the relative effect of these procedures on disclosure is unknown. This randomized study was designed to evaluate the effects of consent condition (anonymous, quasi-anonymous, CoC, and traditional confidentiality) on disclosure of sensitive information among postpartum women. METHODS: Participants were 200 postpartum, primarily African-American women who were randomly assigned to one of the four consent conditions and completed a brief computer-delivered assessment of alcohol and drug use, sexual risk, intimate partner violence, and emotional distress. RESULTS: Participants in the anonymous and quasi-anonymous conditions disclosed significantly more sensitive information than those in the traditional consent condition. In contrast, no advantage in overall disclosure was observed for the CoC condition. This result was largely consistent across specific content areas with the exception of emotional distress, disclosure of which was unrelated to consent condition. CONCLUSIONS: Although use of a CoC has limited impact on disclosure, the quasi-anonymous method may increase disclosure to a similar extent as full anonymity. Quasi-anonymous approaches should be considered when under-reporting is likely, a context in which the disadvantages of this approach must be balanced against its advantages.

A randomized trial of the effects of anonymity and quasi anonymity on disclosure of child maltreatment-related outcomes among postpartum women.

Anonymity may facilitate disclosure of maltreatment-related variables among parents, particularly in the perinatal period. This study was conducted in order to (a) confirm the effect of anonymity on commonly used measures in the field of child maltreatment; (b) examine the extent to which quasi anonymity (in which identifying information is collected but not linked to research data) can also facilitate disclosure on maltreatment-related measures; and (c) examine potential explanatory mechanisms of any association between level of anonymity and disclosure. This study further sought to evaluate these associations in the perinatal period, a crucial point for intervention that is also a time when rates of disclosure may be particularly low. A total of 150 postpartum, primarily African American women were randomly assigned to conditions involving traditional confidentiality, quasi anonymity, or full anonymity. Overall, disclosure on maltreatment-related measures was more than twice as likely for participants in the anonymous condition; quasi anonymity resulted in similar but somewhat smaller increases in disclosure. Anonymous methods may be greatly underutilized in child maltreatment research, and quasianonymous methods show promise as an alternative for longitudinal designs.

Commission versus receipt of violence during pregnancy: associations with substance abuse variables.

The tendency for women to report both commission and receipt of violence is an understudied phenomenon. In particular, little is known about individual differences as a function of commission vs. receipt of partner violence among pregnant women. Using a sample of 78 cohabiting low-SES pregnant women, the current study examines three violence subtypes based on self-report (primarily commission of violence, primarily receipt of violence, and no report of violence) and investigated differences in a range of other risk factors among these subtypes. In this sample, 47% reported higher levels of intimate partner violence (IPV) perpetration than victimization; 14% reported more IPV victimization than perpetration; and 39% reported no IPV. Results demonstrate clear differences between women reporting IPV and those not reporting IPV and clear differences between IPV subtypes in terms of partner substance use, with women reporting primarily receipt of violence also reporting more drug and alcohol abuse by their partners. Although preliminary, these findings suggest that the commission of violence may be more common during pregnancy than the receipt of violence, but that risks for these two subgroups are similar.

Computer-based brief motivational intervention for perinatal drug use.

Computer-based brief motivational interventions may be able to reach a high proportion of at-risk individuals and thus have potential for significant population impact. The present studies were conducted to determine the acceptability and preliminary efficacy of a computer-based brief motivational intervention (the motivation enhancement system, or MES). In Study 1, quantitative and qualitative feedback from 30 postpartum women and 17 women in treatment for drug use were used to modify the software. In Study 2, 50 urban postpartum women who reported drug use in the month before pregnancy completed the intervention and provided repeated within-session ratings of state motivation. In Study 3, 30 women were randomly assigned to intervention or control conditions with 1-month follow-up. Overall, women rated the MES as highly acceptable and easy to use and reported significant increases in state motivation at postintervention and at 1-month follow-up (d = .49). These preliminary results are encouraging and suggest that further work in this area is warranted.

When grades determine self-worth: consequences of contingent self-worth for male and female engineering and psychology majors.

The impact of grades on daily self-esteem, affect, and identification with major was examined in a sample of 122 male and female students majoring in engineering and psychology. Self-esteem, affect, and identification with major increased on days students received good grades and decreased on days they received poor grades; basing self-esteem on academic competence moderated the effect of bad grades. Bad grades led to greater drops in self-esteem but not more disidentification with the major for women in engineering. Instability of self-esteem predicted increases in depressive symptoms for students initially more depressed.