Results: Twenty five studies (3394 patients) met inclusion criteria. We identified four conventional major risk factors which were evaluated in at least 4 studies and found to be statistically associated with an increased risk of death in at least 2 studies: previous adverse cardiac event (pooled hazard ratio 5.4 (95% CI 3.67-7.95), p <0.001 ); non-sustained ventricular tachycardia (pooled hazard ratio 2.13 (95% CI 1.21-3.74), p=0.009); unexplained syncope (pooled hazard ratio 1.89 (95% CI 0.69-5.16), p=0.22);and extreme left ventricular hypertrophy (pooled hazard ratio 1.80 (95% CI 0.75-4.32), p=0.19). Left atrial diameter did not meet the major risk factor criteria, however is likely to be an additional significant risk factor. 'Minor' risk factors included a family history of sudden cardiac death, gender, age, symptoms, ECG changes, abnormal blood pressure response to exercise and left ventricular outflow tract obstruction. Conclusions:A lack of well-designed, large population based studies in childhood hypertrophic cardiomyopathy means the evidence-base for individual risk factors is not robust. We have identified four clinical parameters which are likely to be associated with increased risk of SCD, SCD-equivalent event or CVD. Multi-centre prospective studies are needed to further determine their relevance in predicting SCD in childhood HCM and to identify novel risk markers. Condensed abstract:3 A systematic review and meta-analysis of clinical risk factors predicting sudden cardiac death (SCD) in childhood hypertrophic cardiomyopathy (HCM) was performed identifying four 'major' factors: previous adverse cardiac event; non-sustained ventricular tachycardia; syncope and extreme left ventricular hypertrophy. Well-designed multi-centre studies are required in the future to confirm these findings.4

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

Aim To investigate the effects of home‐based early intervention in children with severe visual impairment (SVI) using the Developmental Journal for babies and young children with visual impairment (DJVI). Method A longitudinal observational study was undertaken with a national cohort (OPTIMUM) of infants with congenital disorders of the peripheral visual system (CDPVS) and profound‐SVI; and followed up after 12 months and 24 months. Intervention was categorized according to the practitioner diary records of their usual practice over 12 months from baseline comparing those receiving the DJVI and those receiving ‘Other Support’. Outcome measures of cognition and language, behaviour difficulties, parenting stress, and satisfaction with parent–practitioner partnership were collected. Results In the 54 children (26 males, 28 females, baseline mean age 13.5mo, SD 2.3mo, range 8–17mo) with ‘total’ CDPVS (including 16 ‘complex’ and 38 ‘simple’ with or without known brain disorder respectively), linear mixed effects pointed towards acceleration in sensorimotor understanding and expressive language especially in the ‘simple’ subsample (11.72 developmental quotient, 95% confidence interval −1.17 to 24.61, p>0.05) in those receiving the DJVI. Vision level also predicted outcomes (p<0.05). The DJVI group showed improvements in behavioural withdrawal (η2=0.20, p=0.02, ‘simple’) and parenting stress (d=0.78, d=0.92, p=0.02 total and ‘simple’ respectively) and perceived practitioner–parent relationship (η2=0.16, p=0.01). Interpretation Infants and young children with visual impairment receiving home‐based early intervention using the DJVI with a structured developmental approach had better outcomes than those receiving ‘other’ home‐based early interventions. Moderate to large effect improvements were found in child cognition and language, behaviour and parenting stress and the perceived practitioner‐parent relationship, although cognition did not reach 5% significance level. What this paper adds Early intervention using the Developmental Journal for babies and young children with visual impairment was associated with enhanced developmental outcomes compared to other approaches. Improvements were also found in child behaviour, parenting stress, and perceived parent practitioner outcomes. Type and complexity of visual impairment also influenced outcomes.

BackgroundAnxiety and depression are closely associated. However, they are typically treated separately and there is a dearth of information on tackling them together.AimsThe study’s purpose was to establish how best to treat co-occurring anxiety and depression in a routine clinical service—specifically, to compare cognitive behaviour therapy (CBT) focusing only on depression (CBT-D) to a broader CBT focusing on both depression and anxiety (CBT-DA).MethodCase notes of 69 patients with equally severe clinical levels of depression and anxiety seen in a routine clinical service were randomly selected to review from a pool of 990 patients. The mean age was 44.61 years (SD = 12.97). 65% of the sample were female and 88% reported their ethnicity white. The content of electronic records reporting techniques used and scores on a measure of depression (The Patient Health Questionnaire) and anxiety (The Generalized Anxiety Disorder Assessment) were reviewed to categorise therapy as CBT-D or CBT-DA.ResultsResults indicated significant overall improvement with CBT; 70% and 77% of the sample met criteria for reliable improvement on The Patient Health Questionnaire and The Generalized Anxiety Disorder Assessment respectively. Fewer patients who received CBT-DA met The Generalized Anxiety Disorder Assessment recovery criteria at the end of treatment than those who received CBT-D. Mean post treatment PHQ-9 and GAD-7 scores remained above threshold for those receiving CBT_DA but not those receiving CBT-D. There was no evidence suggesting CBT-DA was superior to CBT-D.ConclusionsIn patients with equally severe clinical levels of depression and anxiety, a broader treatment addressing both anxiety and depression does not appear to be associated with improved outcomes compared to treatment focused on depression.