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.

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.

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.

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.

Comparison between the safety profile and clinical results of the Cook detachable and Gianturco coils for transcatheter closure of patent ductus arteriosus in 272 patients.

OBJECTIVES: We evaluated the occlusion rate and safety of Cook detachable coils versus Gianturco coils in transcatheter closure of patent ductus arteriosus (PDA). BACKGROUND: The Cook detachable coil recently was introduced in an attempt to improve the safety of transcatheter closure of PDA. METHODS: Between January 1994 and September 1998, 272 patients underwent transcatheter PDA closure. Cook detachable coils were used in 137 patients, with a mean age of 43.9 months and weight of 13.8 kg. In 135 patients, Gianturco coils were used, with a mean age of 56.8 months and weight of 17.8 kg. The mean narrowest diameter of the PDA in the Cook detachable coil group was 2.85 mm versus 2.32 mm for the Gianturco coil group. RESULTS: The Cook detachable coil group was younger and weighed less than the Gianturco group (P < 0.05 and 0.02, respectively). Their narrowest PDA diameter was larger (P < 0.01). Embolization rate was significantly lower in the Cook coil group (9[6.5%] of 137 vs 22 (16.3%) of 135; P = < 0.013). The mean follow-up for the Cook coil group was significantly shorter (0.55 years) than for the Gianturco coil group (1.18 years; P < 0.001). On an intention-to-treat basis, complete occlusion by echocardiography was achieved in 99 (72.3%) of 137 patients in the Cook detachable coil group, which was significantly less than the Gianturco coil group (114 [84.4%] of 135; P = 0.008). CONCLUSION: Cook detachable coils for transcatheter closures of the PDA are safer than Gianturco coils. Hence, children with large ductal can be treated earlier in life. Short-term complete occlusion rate was lower in the Cook detachable coil group. This rate can be explained by a shorter follow-up time, larger ductal diameter, and the different materials used for the detachable coils.

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.

Problems encountered during introduction of Gianturco coils for transcatheter occlusion of the patent arterial duct.

OBJECTIVE: To define the problems encountered during transcatheter occlusion of the patent arterial duct using Gianturco coils. METHODS: Between January 1994 and November 1995, 93 patients were admitted in whom it was intended to occlude the patent arterial duct using Gianturco coils. Anterograde transcatheter coil occlusion was performed via the femoral vein in 81 patients. In the remaining 12 the procedure was done via the femoral artery. RESULTS: Coils were implanted successfully in 82/93 (88%) patients. In 11 patients the procedure was a failure. In 19/93 patients (20%), inadvertent embolization of the coil occurred. The coils were retrieved in all except one patient. In 17 of these patients, new coils were then reimplanted successfully. Doppler echocardiography after the procedure showed that in 9/82 (11%) patients the left pulmonary artery Doppler peak velocity exceeded 1.5 m.s-1 (mean 1.2 m.s-1) raising concern about left pulmonary artery branch stenosis. The complete occlusion rate at discharge from hospital was 72/82 (88%). Follow-up ranges from 1 day to 14 months (mean 2/12 months) in the 82 patients in whom successful deployment of coils was possible. In two patients, the arterial duct became occluded at follow-up. One additional patient had complete occlusion after reocclusion using another coil. Thus, after short-term follow-up a total of 75/82 patients (91.4%) have a completely occluded arterial duct after coil implantation. CONCLUSION: Transcatheter occlusion of the patent arterial duct using Gianturco coils is an effective and safe technique. In the learning curve there is a relatively high rate of inadvertent embolization, but the coils can be retrieved in the vast majority of patients. The complication rate is offset by the high early occlusion rate and the inexpensiveness of the procedure.

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.

Clinical results and radiographic appearance of the Rashkind double umbrella device in patients with occlusion of the ductus arteriosus.

BACKGROUND: The Rashkind double umbrella device for patent arterial duct occlusion has been used in many patients. Its radiographic appearance has not been sufficiently described. OBJECTIVE: To present the varying radiographic appearances of the Rashkind double umbrella device on the chest X-ray. MATERIALS AND METHODS: The chest radiographs of 69 patients (median age 60 months; median weight 17 kg), who underwent closure of their patent arterial duct between March 1990 and August 1994, were reviewed. The following parameters were evaluated: 1) the size of the heart (cardio-thoracic ratio) and pulmonary vessels, 2) the position of the device in AP/PA and lateral projections. The results of occlusion of the patent arterial duct were also reviewed. RESULTS: Sixty-two of 69 (90 %) patients had complete occlusion after a follow-up between 2 months and 3(1)/2 years. The cardio-thoracic ratio showed significant reduction at follow-up (P < 0.001). The two different size devices could be well differentiated in the AP and the lateral projection. In 14 patients (20 %) the device was in an asymmetrical position. There was no significant correlation between position of the device and success of occlusion in our material. CONCLUSION: Complete occlusion of the arterial duct using Rashkind double umbrella devices can be achieved in 90 % of our population. In 20 % the device will have an asymmetrical position. There is no correlation between asymmetrical position of the device in the chest radiograph and residual shunting.

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.

Thrombosis on the Rashkind double umbrella device: a complication of PDA occlusion.

A 3-year-old child with a patent arterial duct underwent percutaneous transcatheter occlusion using Rashkind's "double umbrella" technique. The procedure, using a 17 mm device, was uncomplicated. An echocardiogram done 6 hr later showed a mobile 5 x 3 mm thrombus on the pulmonary aspect of the device. The thrombus resolved after 24 hr of intravenous heparin.

Anterograde transcatheter occlusion of the patent ductus arteriosus with Gianturco coils--a new, effective and inexpensive technique.

OBJECTIVE: To report the use of Gianturco coils in non-surgical closure of patent ductus arteriosus (PDA). DESIGN: Retrospective review of patient data. SETTING: Two specialist paediatric cardiology units in Riyadh, Saudi Arabia, and Cape Town, South Africa. PATIENTS: Thirty children (median age 36 months, weight 12.5 kg) and one adult (24 years old) with PDA underwent attempted transcatheter closure of the duct between August 1994 and February 1995. OUTCOME MEASURES: Assessment of duct closure as measured angiographically or with colour flow Doppler techniques after insertion of a Gianturco coil or coils. RESULTS: Total occlusion was achieved in 90% of patients. In 2 patients accidental embolisation of the coil occurred during the procedure. The coils were easily retrieved with a snare retrieval device. The median diameter of PDA occluded was 2.5 mm. Between 1 and 6 coils were used to achieve occlusion. The median procedure time was 79 minutes. Seventy-nine per cent of patients in Riyadh were handled as day cases. CONCLUSION: Anterograde transcatheter occlusion of a small to moderate PDA with Gianturco coils is safe and effective. The technique is considerably less expensive than the Rashkind double umbrella.

The switch to balloon atrial septostomy with echocardiographic guidance--a severe complication.

To warn about a severe complication of balloon atrial septostomy (BAS) guided by echocardiography, a retrospective review was undertaken of all BASs performed at Red Cross War Memorial Children's Hospital in Cape Town from 1984 to the end of 1992. BAS with fluoroscopy was carried out in 41 infants (group I). Since April 1991, 17 infants had BAS with two-dimensional echocardiography guidance in the intensive care unit (group II). The majority of patients (72%) had simple transposition of the great arteries. Only 3 patients in group I were catheterised via the umbilical vein (the remaining 38 via the femoral vein). In group II, 12 patients (71%) were catheterised via the umbilicus. The only fatality as a result of the procedure occurred in group II. This was the result of rupture of the splenic vein. The patient was catheterised via the umbilical vein, and echocardiography was not adequately used to guide the catheter below the diaphragm. There were no other severe complications in either group. Although echocardiographically guided BAS is easier, quicker, potentially safer and keeps the baby in a better homeostatic environment, we describe a severe complication of this procedure in the learning phase that has not been noted previously.