Objectives Patients starting highly active antiretroviral therapy (HAART) may have a suboptimal CD4 increase despite rapid virological suppression. The frequency and the significance for patient care of this discordant response are uncertain. This study was designed to determine the incidence of a discordant response at two time‐points, soon after 6 months and at 12 months, and to determine the relationship with clinical outcomes. Methods Data obtained in the UK Collaborative HIV Cohort Study were analysed. A total of 2584 treatment‐naïve patients starting HAART with HIV viral load (VL)>1000 HIV‐1 RNA copies/mL at baseline and <50 copies/mL within 6 months were included in the analysis. Patients were classified at either 6–10 (midpoint 8) months or 10–14 (midpoint 12) months as having a discordant (CD4 count increase <100 cells/μL from baseline) or concordant response (CD4 count increase ≥100 cells/μL). Results Discordant responses occurred in 32.1% of patients at 8 months and in 24.2% at 12 months; 35% of those discordant at 8 months were concordant at 12 months. A discordant response was associated with older age, lower baseline VL, and (at 12 months) higher baseline CD4 cell count. In a multivariate analysis it was associated with an increased risk of death, more strongly at 12 months [incidence rate ratio (IRR) 3.35, 95% confidence interval (CI) 1.73–6.47, P<0.001] than at 8 months (IRR 2.08, 95% CI 1.19–3.64, P=0.010), but not with new AIDS events. Conclusions Discordant responders have a worse outcome, but assessment at 12 months may be preferred, given the number of ‘slow’ responders. Management strategies to improve outcomes for discordant responders need to be investigated.

Abstracts A48J Epidemiol Community Health 2012;66(Suppl I):A1-A66 months between prescriptions. We identified a control group of twice as many non-pregnant women receiving AEDs. These women were randomly selected, but stratified within five year age bands and matched on indication for AEDs as for the pregnant women Cox's regression was used to compare the likelihood of discontinuing AEDs between pregnant and non-pregnant women. Background Chronic kidney disease (CKD) is a prevalent and growing problem, strongly associated with obesity, diabetes, hypertension, and cardiovascular disease. Health inequalities are recognised throughout the CKD pathway, including prevalence of risk factors, prevalence of CKD, progression, and renal replacement therapy. There is evidence that an adequate level of health literacy (defined as 'the cognitive and social skills which determine the motivation and ability of individuals to gain access to, understand, and use information in ways that promote and maintain good health') contributes to improved disease management, and that inadequate health literacy is a potentially modifiable determinant of poor health outcomes and health inequalities in people with chronic disease. The aim of this review was to synthesise and critically appraise the literature evidence on the prevalence and associations of limited health literacy in CKD. Methods Seven databases were searched using terms for CKD and health literacy (HL). Cross sectional studies, and baseline data from cohort and randomised controlled trials were included where they assessed and presented the prevalence of limited HL using a validated tool in adults with CKD of any stage. The primary outcome was an objectively measured prevalence of limited HL in a population with CKD. The secondary outcome was associations of limited HL. Study quality was assessed by two reviewers using standardised criteria. Prevalence values were combined using a random effect model to give overall prevalence. Results 82 studies were identified from searching, of which six met the inclusion criteria. The total number of people with CKD in all studies was 1,405. Five studies were in dialysis or transplant populations, and all were from the US. There was significant heterogeneity in the prevalence of limited HL (9% to 32% (median 25%, inter-quartile range 16%)). The pooled prevalence of limited

Summary Two boys, aged 4 and 8 years, consulted a pediatrician for psychomotor and severe language/ speech delay. Both patients showed growth deficiency and a gracile muscular system. Further investigation revealed an increased urinary creatine/creatinine ratio. DNA sequence analysis of SLC6A8 on the X-chromosome revealed two different mutations resulting in creatine transporter defect. Creatine transporter defect is a recently described cause of X-linked mental retardation that appears to be relatively frequent. The disease is characterized by the neuropsychological profile with mental retardation, ADHD, semantic-pragmatic language disorder and oral dyspraxia. The diagnosis is based on a combination of at least two tests: assessment of the urinary creatine/creatinine ratio, 1 H-MRS of the brain, DNA sequence analysis of SLC6A8 or creatine uptake assay in cultured fibroblasts. Every male patient with mental retardation, speech/language disorder and/or growth deficiency should be screened for creatine transporter defect. a Samenvatting Twee jongens van 4 en 8 jaar oud bezochten de kinderarts in verband met psychomotore en ernstige taal-/spraakontwikkelingsachterstand. Tevens was sprake van groeiachterstand en een geringe spiermassa. In de urine werd een verhoogde creatine/creatinine-ratio gevonden. Bij DNA-analyse van het creatine transporter-gen SLC6A8, gelegen op het X-chromosoom, werd bij elke patie¨nt een verschillende mutatie gevonden. Creatine transporter defect is een recent ontdekte oorzaak van X-gebonden mentale retardatie die relatief vaak lijkt voor te komen. De aandoening kan zich van andere oorzaken van niet-syndromale X-gebonden mentale retardatie onderscheiden door het neuropsychologisch profiel: mentale retardatie, ADHD, semantisch-pragmatische taalstoornis en orale dyspraxie. De diagnose wordt gesteld door een combinatie van ten minste twee van de volgende tests: bepaling van de creatine/creatinine-ratio in urine, protonmagnetische resonantiespectroscopie ( 1 H-MRS) van de hersenen, DNA-analyse van SLC6A8 of een functionele creatineopnametest in gekweekte fibroblasten. Bij iedere mannelijke patie¨nt met mentale retardatie met een spraak/ taaldefect en/of groeiachterstand moet aan een creatine transporter defect gedacht worden. InleidingRecent is een nieuwe oorzaak voor mentale retardatie beschreven: cerebrale creatine deficie¨ntie. Van mentale retardatie is sprake bij een intelligentiequotie¨nt (IQ) lager dan 70. Dit is het geval bij circa 1% van de bevolking, als geı¨soleerde afwijking of als onderdeel van een syndroom.