The effects of alcohol on laboratory-measured impulsivity after L: -Tryptophan depletion or loading.

RATIONALE: Indirect evidence supports a link between serotonergic activity and individual differences in the behavioral response to alcohol, but few studies have experimentally demonstrated that an individual's biological state can influence the sensitivity to alcohol-induced behaviors. OBJECTIVE: Our purpose was to temporarily modify serotonin synthesis in healthy individuals to determine how altered biological states may interact with alcohol administration to affect impulsive behavior. MATERIALS AND METHODS: In a repeated-measures design, 18 normal controls consumed a 50-g L: -tryptophan (Trp) depleting (ATD) or loading (ATL) amino-acid beverage that temporarily decreased or increased (respectively) serotonin synthesis before receiving either a moderate dose of alcohol (0.65 g/kg) or placebo. All participants completed three impulsivity testing sessions on each of the five experimental days. Session one was a baseline session. Session two included testing after ATD-only or ATL-only. Session three included: (1) placebo after ATL (ATL+PBO); (2) placebo after ATD (ATD+PBO); (3) alcohol after ATL (ATL+ALC); (4) alcohol after ATD (ATD+ALC); and (5) Alcohol-only conditions. Impulsivity was assessed using the Immediate Memory Task (Dougherty et al., Behav Res Methods Instrum Comput 34:391-398, 2002), a continuous performance test yielding commission errors that have been previously validated as a component of impulsive behavior. RESULTS: Primary findings were that ATD-only increased impulsive responding compared to ATL-only, and ATD+ALC increased commission errors to levels higher than either the ATL+ALC or Alcohol-only conditions. CONCLUSIONS: These findings demonstrate that reduced serotonin synthesis can produce increased impulsivity even among non-impulsive normal controls, and that the behavioral effects of alcohol are, in part, dependent on this biological state.

Mothers' accounts of screening newborn babies in Wales (UK).

OBJECTIVE: To explore mothers' accounts of screening newborn babies to increase our understanding of how they define screening and talk about the process of consent. DESIGN: A purposive sample of mothers, whose newborn babies had recently been screened, were invited to take part in a semi-structured interview. SETTING: Primary and community-care settings in one region of Wales, UK. PARTICIPANTS: Mothers (n=18) who had recently given birth and been offered screening for their newborn babies. FINDINGS: Information giving about newborn screening was reported to be ad hoc, with most women receiving information in the postnatal period. Mothers talked about newborn screening as a routine procedure that 'had' to be done. There was some recognition that consent for screening should have been given, but this was often compromised because the test was being offered by a trusted health professional and a social expectation that responsible mothers should have their babies tested. CONCLUSIONS: Mothers agreed that information about newborn-baby screening should be given during pregnancy. This is in line with recent recommendations from the UK Newborn Screening Programme Centre. This policy urgently needs to be translated effectively into everyday practice. In addition, the nature of consent required for each test needs to be clarified so that midwifery practice is not compromised and mothers are aware that some tests are advisable whereas others, for less treatable diseases, are a matter of individual choice.

Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection.

OBJECTIVE: To address the issue of diagnostic delay in Duchenne Muscular Dystrophy (DMD) using developmental data from a cohort of affected boys detected by newborn screening and data on the diagnostic pathways of a group of boys diagnosed clinically. DESIGN: Quantitative and semi-qualitative. SETTING: Primary care. SUBJECTS: 1. Cohort of boys diagnosed by newborn screening (NBS cohort), 2. Group of mothers whose sons were diagnosed clinically (LCD group) Interventions. NBS cohort: (a) Developmental milestones, (b) Griffiths assessment, (c) clinic letters, (d) family case studies. LCD group: semi-structured interview. MAIN OUTCOME MEASURE: 1. The effectiveness of previously proposed strategies for the earlier clinical diagnosis of DMD. 2. Diagnostic pathways of the LCD group. Factors contributing to diagnostic delay in the LCD group. RESULTS: 1. Previously proposed strategies for earlier diagnosis would have had limited effectiveness in detecting the NBS cohort. 2. Diagnostic delay continues because: (a) initial observations are usually non-specific and made by the family, (b) age of presentation and presenting symptoms are highly variable, (c) first concerns are usually expressed to the primary care team who are less likely to recognise the early indicators, (d) early locomotor symptoms could suggest an orthopaedic rather than a paediatric referral. CONCLUSIONS: The identification and implementation of an effective screening tool to reduce diagnostic delay is more complex than previously portrayed. In the light of this evidence service providers need to ask whether newborn screening is the only feasible solution to diagnostic delay.