Effects of video-feedback intervention on harmonious parent-child interaction and sensitive discipline of parents with intellectual disabilities: A randomized controlled trial.

BACKGROUND: This study tested whether video-feedback intervention based on attachment and coercion theory increased harmonious parent-child interaction and sensitive discipline of parents with mild intellectual disabilities or borderline intellectual functioning. METHODS: Observer ratings of video-recorded structured interaction tasks at home formed pretest, post-test, and 3-month follow-up outcome data in a randomized controlled trial with 85 families. Repeated measures analyses of variance and covariance were conducted to test for the intervention effect and possible moderation by IQ and adaptive functioning. RESULTS: The intervention effect on harmonious parent-child interaction was conditional on parental social adaptive behaviour at pretest, with lower adaptive functioning associated with stronger intervention benefit at post-test and follow-up compared to care as usual. Intervention effects were not conditional on parental IQ. Intervention effects for sensitive discipline were not found. CONCLUSION: Although the video-feedback intervention did not affect observed parenting for the average parent, it may benefit interaction between children and parents with lower parental adaptive functioning.

From prenatal anxiety to parenting stress: a longitudinal study.

The objective of this study was to explore how maternal mood during pregnancy, i.e., general anxiety, pregnancy-specific anxiety, and depression predicted parenting stress 3 months after giving birth, thereby shaping the child's early postnatal environmental circumstances. To this end, data were used from 1073 women participating in the Dutch longitudinal cohort Generations2, which studies first-time pregnant mothers during pregnancy and across the transition to parenthood. Women filled out the State Trait Anxiety Inventory (STAI), Pregnancy-Related Anxiety Questionnaire-revised (PRAQ-R), and Beck Depression Index (BDI) three times during pregnancy: at 12, 22, and 32 weeks gestational age. Three months postpartum, a parenting stress questionnaire was filled out yielding seven different parenting constructs. Latent scores were computed for each of the repeatedly measured maternal mood variables with Mplus and parenting stress constructs were simultaneously regressed on these latent scores. Results showed that trait anxiety and pregnancy-specific anxiety were uniquely related to almost all parenting stress constructs, taking depression into account. Early prevention and intervention to reduce maternal anxiety in pregnancy could hold the key for a more advantageous trajectory of early postnatal parenting.

Meta-analysis of genome-wide association studies for personality.

Personality can be thought of as a set of characteristics that influence people's thoughts, feelings and behavior across a variety of settings. Variation in personality is predictive of many outcomes in life, including mental health. Here we report on a meta-analysis of genome-wide association (GWA) data for personality in 10 discovery samples (17,375 adults) and five in silico replication samples (3294 adults). All participants were of European ancestry. Personality scores for Neuroticism, Extraversion, Openness to Experience, Agreeableness and Conscientiousness were based on the NEO Five-Factor Inventory. Genotype data of ≈ 2.4M single-nucleotide polymorphisms (SNPs; directly typed and imputed using HapMap data) were available. In the discovery samples, classical association analyses were performed under an additive model followed by meta-analysis using the weighted inverse variance method. Results showed genome-wide significance for Openness to Experience near the RASA1 gene on 5q14.3 (rs1477268 and rs2032794, P=2.8 × 10(-8) and 3.1 × 10(-8)) and for Conscientiousness in the brain-expressed KATNAL2 gene on 18q21.1 (rs2576037, P=4.9 × 10(-8)). We further conducted a gene-based test that confirmed the association of KATNAL2 to Conscientiousness. In silico replication did not, however, show significant associations of the top SNPs with Openness and Conscientiousness, although the direction of effect of the KATNAL2 SNP on Conscientiousness was consistent in all replication samples. Larger scale GWA studies and alternative approaches are required for confirmation of KATNAL2 as a novel gene affecting Conscientiousness.

Genetic influences on the insulin response of the beta cell to different secretagogues.

AIMS/HYPOTHESIS: The aim of the present study was to estimate the heritability of the beta cell insulin response to glucose and to glucose combined with glucagon-like peptide-1 (GLP-1) or with GLP-1 plus arginine. METHODS: This was a twin-family study that included 54 families from the Netherlands Twin Register. The participants were healthy twin pairs and their siblings of the same sex, aged 20 to 50 years. Insulin response of the beta cell was assessed by a modified hyperglycaemic clamp with additional GLP-1 and arginine. Insulin sensitivity index (ISI) was assessed by the euglycaemic-hyperinsulinaemic clamp. Multivariate structural equation modelling was used to obtain heritabilities and the genetic factors underlying individual differences in BMI, ISI and secretory responses of the beta cell. RESULTS: The heritability of insulin levels in response to glucose was 52% and 77% for the first and second phase, respectively, 53% in response to glucose + GLP-1 and 80% in response to an additional arginine bolus. Insulin responses to the administration of glucose, glucose + GLP-1 and glucose + GLP-1 + arginine were highly correlated (0.62< r <0.79). Heritability of BMI and ISI was 74% and 60% respectively. The genetic factors that influenced BMI and ISI explained about half of the heritability of insulin levels in response to the three secretagogues. The other half was due to genetic factors specific to the beta cell. CONCLUSIONS/INTERPRETATION: In healthy adults, genetic factors explain most of the individual differences in the secretory capacity of the beta cell. These genetic influences are partly independent from the genes that influence BMI and ISI.

Tuberculous pericarditis in children: a review of 44 cases.

This retrospective study reports experience in 44 children with pericardial tuberculosis seen during a 6-year period, 1986 to 1991. Thirty-seven children presented with pericardial effusion (PE), 4 with constrictive pericarditis and 3 with effusive constrictive disease. Features of cardiac tamponade were present in 90%, and in 91% radiologic cardiomegaly was found. A two-dimensional echocardiogram is diagnostic for PE. Culture and biopsy yields for Mycobacterium tuberculosis were low (18%). The Mantoux test was positive (> 10 mm) in 75%. In 14 patients doubt about etiology necessitated treatment for possible pyogenic infection with anterior pericardiotomy as opposed to diagnostic pericardiocentesis with catheter drainage. Twelve cases with PE were treated with steroids and the other 25 received only anti-tuberculous medication. Five cases of PE developed constrictive pericarditis during treatment of whom none received steroids. No statistically significant differences were demonstrated between the two groups. Only 5 of the 12 cases with constrictive pericarditis required pericardiectomy. There were no deaths and recovery has been complete in 43 cases. This study shows that tuberculous pericardial disease is common in areas with a high prevalence of tuberculosis. Prognosis is excellent for a condition in which morbidity and mortality have previously been high.

The role of surgical ligation of patent ductus arteriosus in the era of the Rashkind device.

BACKGROUND: The role of surgery in managing patent ductus arteriosus (PDA) was studied in the era of the Rashkind double-umbrella device. METHODS: All 354 patients with PDA referred to our center in a 5-year period were included in this report. Of the 354 patients, 236 underwent cardiac catheterization with the intent of transcatheter PDA closure, and 118 had surgical intervention. RESULTS: In 46 (19.5%) of the 236 patients having cardiac catheterization, the procedure either was abandoned or failed. Color Doppler echocardiography demonstrated total occlusion of the ductus after 24 hours in 97 patients (41%) in the cardiac catheterization group. An additional 20 patients had no residual leaks at follow-up. Twenty other patients underwent reocclusion because of a residual shunt. Thus, of the 236 patients, 137 (58%) had successful complete closure of the PDA. Surgical PDA ligation was performed in 118 patients as the initial procedure and in 26 of the 46 patients in whom transcatheter closure was abandoned. If the remaining 20 patients in whom transcatheter closure failed are added to the 144 patients who underwent PDA ligation, the percentage having surgical intervention versus transcatheter occlusion is higher than 46%. CONCLUSIONS: Our data suggest that surgery plays a major role in the management of patients with PDA despite the advent of new interventional catheterization techniques.

Closure of residual leak after umbrella occlusion of the patent arterial duct, using Gianturco coils.

Residual leak after transcatheter occlusion of the patent arterial duct (PDA) using the Rashkind double umbrella technique is a well documented problem. At our institution, there is a 15% incidence of persistent residual leak after 12 months. Since September 1994, 15 patients have undergone successful occlusion of the residual leak using single or multiple Gianturco coils. The median age of the patients was 48 months (range: 12-354 months). The median fluoroscopy time was 11 min (range: 4-14). There were no complications and no embolization of the coils. Eleven patients had total occlusion demonstrated on angiography 5-10 min after coil occlusion. A further three patients were demonstrated on colour Doppler echocardiography to have no residual leak before discharge the same day-despite a small leak on angiography. Only one of 15 patients had a small residual leak at the time of hospital discharge and this was finally occluded 1 year later with another coil. Coil occlusion of a residual leak on the umbrella device is effective and a safe and reliable procedure which appears to be an improvement on using a second umbrella device.

Management of pulmonary atresia or critical pulmonary stenosis and intact ventricular septum with a small or hypoplastic right ventricle.

Twenty-one neonates and infants less than 3 months old undergoing cardiac surgery for an obstructed right ventricular outflow tract, intact ventricular septum and a small or hypoplastic right ventricle were retrospectively analyzed, in order to assess the effects of a change in management protocol. Seven of the 8 patients with critical pulmonary stenosis survived surgery using a transannular outflow patch, whereas only 1 of the 8 patients with pulmonary atresia survived the same operation. Two patients in the latter group died 2 and 3 months after surgery but with complications arising from surgery. Of 5 patients with pulmonary atresia who had a modified Blalock Taussig shunt, 3 patients survived the surgery and were discharged home. These results significantly indicate that there is an unacceptably high mortality for the relief of pulmonary atresia (with intact septum) using a transannular outflow patch, and a Blalock Taussig shunt is the preferred operation. The transannular outflow patch is a safe operation for neonates with critical pulmonary stenosis, irrespective of the size of the right ventricle.

Rupture of tendinous chords during acute rheumatic carditis in young children.

Four children (age range 2 3/4-6 1/2 years) presented with acute mitral regurgitation due to rupture of the tendinous chords. All required urgent replacement of their mitral valve. Subsequent histological examination confirmed acute rheumatic carditis in all. Acute rheumatic carditis is a rare cause of ruptured tendinous chords of the mitral valve especially in young children. The difficulties in diagnosis and management are discussed.

A double-blind comparison of flurbiprofen and indomethacin suppositories in the treatment of osteoarthrosis and rheumatoid disease.

Forty patients with osteoarthrosis or rheumatoid arthritis were entered in a 4-week double-blind trial to compare the efficacy, safety and tolerance of a flurbiprofen 100 mg suppository formulation with indomethacin 100 mg suppositories. There were twenty patients each on indomethacin and flurbiprofen. Statistically significant improvements were reported for both treatments during the study with respect to morning stiffness, night pain and the overall progress of the patients. Both treatments were equally effective with respect to the amount of improvement shown for the parameters. No improvement was noted on either treatment with respect to grip-strength, functional capacity or the daily intake of analgesic therapy, while a marginally significant decrease in the erythrocyte sedimentation rate was noted on indomethacin. Both treatments were well tolerated with only a few transient and mild side-effects being reported. On the basis of this trial, flurbiprofen and indomethacin suppositories have equal therapeutic effects in the treatment of night pain and morning stiffness.

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.

The tendency to seek stimulating activities and intense sensations define excitement-seeking, a personality trait akin to some aspects of sensation-seeking. This trait is a central feature of extraversion and is a component of the multifaceted impulsivity construct. Those who score high on measures of excitement-seeking are more likely to smoke, use other drugs, gamble, drive recklessly, have unsafe/unprotected sex and engage in other risky behaviors of clinical and social relevance. To identify common genetic variants associated with the Excitement-Seeking scale of the Revised NEO Personality Inventory, we performed genome-wide association studies in six samples of European ancestry (N=7860), and combined the results in a meta-analysis. We identified a genome-wide significant association between the Excitement-Seeking scale and rs7600563 (P=2 × 10(-8)). This single-nucleotide polymorphism maps within the catenin cadherin-associated protein, alpha 2 (CTNNA2) gene, which encodes for a brain-expressed α-catenin critical for synaptic contact. The effect of rs7600563 was in the same direction in all six samples, but did not replicate in additional samples (N=5105). The results provide insight into the genetics of excitement-seeking and risk-taking, and are relevant to hyperactivity, substance use, antisocial and bipolar disorders.

The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data.

The relationship between major depressive disorder (MDD) and bipolar disorder (BD) remains controversial. Previous research has reported differences and similarities in risk factors for MDD and BD, such as predisposing personality traits. For example, high neuroticism is related to both disorders, whereas openness to experience is specific for BD. This study examined the genetic association between personality and MDD and BD by applying polygenic scores for neuroticism, extraversion, openness to experience, agreeableness and conscientiousness to both disorders. Polygenic scores reflect the weighted sum of multiple single-nucleotide polymorphism alleles associated with the trait for an individual and were based on a meta-analysis of genome-wide association studies for personality traits including 13,835 subjects. Polygenic scores were tested for MDD in the combined Genetic Association Information Network (GAIN-MDD) and MDD2000+ samples (N=8921) and for BD in the combined Systematic Treatment Enhancement Program for Bipolar Disorder and Wellcome Trust Case-Control Consortium samples (N=6329) using logistic regression analyses. At the phenotypic level, personality dimensions were associated with MDD and BD. Polygenic neuroticism scores were significantly positively associated with MDD, whereas polygenic extraversion scores were significantly positively associated with BD. The explained variance of MDD and BD, ∼0.1%, was highly comparable to the variance explained by the polygenic personality scores in the corresponding personality traits themselves (between 0.1 and 0.4%). This indicates that the proportions of variance explained in mood disorders are at the upper limit of what could have been expected. This study suggests shared genetic risk factors for neuroticism and MDD on the one hand and for extraversion and BD on the other.

Exercise participation and self-rated health: do common genes explain the association?

The purpose of this study is to investigate whether there is an association between exercise participation and self-rated health and whether this association can be explained by common genes and/or common environmental influences. In a sample of 5,140 Dutch adult twins and their non-twin siblings from 2,831 families, exercise participation (sedentaries, light or moderate, vigorous exercisers) and self-rated health were assessed by survey. To investigate the etiology of the association, bivariate genetic models using structural equation modeling were applied to the data. The correlation between exercise participation and self-rated health is significant but modest (r = 0.20). Exercise participation and self-rated health are both heritable (around 50% of the variance of both phenotypes is explained by genetic factors). The genetic factors influencing exercise participation and self-rated health partially overlap (r = 0.36) and this overlap fully explains their phenotypic correlation. We conclude that the association between exercise and self-rated health can be explained by genes predisposing to both exercise participation and self-rated health. These genes may directly influence both phenotypes (pleiotropy). Alternatively, genes that affect exercise or self-rated health may indirectly influence the other phenotype through a causal relationship. We propose that identification of the genes that cause differences in exercise behavior will help resolve the issue of causality.

The association between exercise participation and well-being: a co-twin study.

OBJECTIVE: We investigated the association between leisure time exercise participation and well-being (i.e., life satisfaction and happiness) and examined the causality underlying this association. METHOD: The association between exercise participation and well-being was assessed in around 8000 subjects, (age range 18-65 years) from The Netherlands Twin Registry (NTR). Causality was tested with the co-twin control method in 162 monozygotic (MZ) twin pairs, 174 dizygotic (DZ) twin and sibling pairs, and 2842 unrelated individuals. RESULTS: Exercisers were more satisfied with their life and happier than non-exercisers at all ages. The odds ratio for life satisfaction given exercise participation was significantly higher than unity in unrelated pairs, and a trend was visible in DZ pairs. In MZ pairs, the odds ratio was close to unity. The pattern of odds ratios for happiness given exercise participation was similar. CONCLUSION: Exercise participation is associated with higher levels of life satisfaction and happiness. This association is non-causal and appears to be mediated by genetic factors that influence both exercise behavior and well-being.

Regular exercise, anxiety, depression and personality: a population-based study.

OBJECTIVES: To examine whether regular exercise is associated with anxiety, depression and personality in a large population-based sample as a function of gender and age. METHODS: The sample consisted of adolescent and adult twins and their families (N=19,288) who participated in the study on lifestyle and health from The Netherlands Twin Registry (1991-2002). Exercise participation, anxiety, depression and personality were assessed with self-report questionnaires. RESULTS: The overall prevalence of exercise participation (with a minimum of 60 min weekly at 4 METs (Metabolic Energy Expenditure Index)) in our sample was 51.4%. Exercise participation strongly declined with age from about 70% in young adolescents to 30% in older adults. Among adolescents, males exercised more, whereas, among older adults, females exercised more. Exercisers were on average less anxious (-0.18 SD), depressed (-0.29 SD) and neurotic (-0.14 SD), more extraverted (+0.32 SD) and were higher in dimensions of sensation seeking (from+0.25 SD to+0.47 SD) than non-exercisers. These differences were modest in size, but very consistent across gender and age. CONCLUSIONS: This study corroborates and extends previous findings: regular exercise is cross-sectionally associated with lower neuroticism, anxiety and depression and higher extraversion and sensation seeking in the population.

Ventricular Septal Defect.

Ventricular septal defects (VSDs) are the most common congenital heart malformations seen in children. Because spontaneous closure occurs frequently, patients with small VSDs should be followed clinically with no limitations except endocarditis prophylaxis. Surgical closure is recommended for only small defects with significant associated lesions such as aortic regurgitation, aortic valve prolapse, right or left ventricular outflow obstruction, tricuspid regurgitation, left ventricle to right atrial shunt, or recurrent endocarditis. Enlarging left ventricular size or deteriorating left ventricular function would also be an indication for surgical repair. Moderate and large VSDs in infancy often require treatment of congestive heart failure with diuretics, digitalis, and afterload reduction. Surgical closure before 9 months of age is indicated for large VSDs and by 2 years of age for moderate shunts to prevent pulmonary vascular obstructive disease and the consequences of long-standing volume overload. Device closure of VSD is still in the investigational stage but holds promise for treatment of apical or multiple muscular VSDs.

Frontonasal dysplasia associated with tetralogy of Fallot.

Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

Hypertrophic cardiomyopathy in infancy and childhood.

Hypertrophic cardiomyopathy (HCM) presented in 10 children under 2 years of age (group 1) and in 5 between 3 and 8 years (group 2). The clinical, ECG, chest radiographic and echocardiographic features are reviewed and prognosis over a mean follow-up period of 3.5 years is reported. Patients in group 1 had more symptoms and 7 had evidence of heart failure at some stage; all had ECG abnormalities. Group 2 patients presented with murmurs and only 1 had heart failure. Medical management of these patients is discussed and the importance of accurate diagnosis stressed, since HCM may have a poor prognosis in childhood; 3 out of 15 patients have died.