The relative proportions of genetic and environmental variance in behavioral measures have been studied extensively. A growing body of literature has examined changes in heritability measures over time, but we are unaware of any prior efforts to assess developmental heritability changes for multiple behavioral phenotypes using multiple data sources. We have chosen to explore the proportional genetic influences on a variety of behaviors during the genetically and environmentally labile adolescent and young adult years. This meta-analysis examined 8 behavioral domains and incorporated only primary research articles reporting two or more heritability time points in order to minimize the age-to-age error variability. Linear regression analyses revealed significant cross-time heritability increases for externalizing behaviors, anxiety symptoms, depressive symptoms, IQ, and social attitudes and nonsignificant increases for alcohol consumption, and nicotine initiation, but no evidence of heritability changes for attention-deficit/hyperactivity disorder. A variety of mechanisms may underlie these findings including the rising importance of active genotype-environment correlation, an increase in gene expression, or proportional reductions in environmental variance. Additional longitudinal studies and the inclusion of measures of total variance in primary research reports will aid in distinguishing between these possibilities. Further studies exploring heritability changes beyond young adulthood would also benefit our understanding of factors influencing heritability of behavioral traits over the lifespan.

Results obtained from previous longitudinal studies of reading difficulties indicate that reading deficits are generally stable. However, little is known about the etiology of this stability. Thus, the primary objective of this first longitudinal twin study of reading difficulties is to provide an initial assessment of genetic and environmental influences on the stability of reading deficits. Data were analyzed from a sample of 56 twin pairs, 18 identical (monozygotic, MZ) and 38 fraternal (dizygotic, DZ), in which at least one member of each pair was classified as reading-disabled in the Colorado Learning Disabilities Research Center, and on whom follow-up data were available. The twins were tested at two time points (average age of 10.3 years at initial assessment and 16.1 years at follow-up). A composite measure of reading performance (PIAT Reading Recognition, Reading Comprehension and Spelling) was highly stable, with a stability correlation of .84. Data from the initial time point were first subjected to univariate DeFries-Fulker multiple regression analysis and the resulting estimate of the heritability of the group deficit (h2g) was .84 (± .26). When the initial and follow-up data were then fitted to a bivariate extension of the basic DF model, bivariate heritability was estimated at .65, indicating that common genetic influences account for approximately 75% of the stability between reading measures at the two time points.

Girls who report first sexual intercourse during their early teen years have much higher rates of teenage pregnancy and childbearing than girls who delay sexual onset until older adolescence. In this study, we examine genetic and environmental influences on variation in teenage pregnancy and covariation with age at first sexual intercourse in two cohorts of Australian female twins. In the older twin cohort, born 1893–1964, we observe substantial heritable variation in teenage pregnancy that is largely shared with heritable variation in age at first sexual intercourse, with shared environment contributintablg little to variation in teenage pregnancy. Genetic influences on teenage pregnancy are smaller and nonsignificant in the younger twin cohort, born 1964–1971, where shared environment contributes much more and overlaps entirely with shared environmental variation in age at first intercourse.

Etiological factors for stability and change in symptoms of anxiety and depression, including sex differences, are largely unexplored in young adults. Using biometric modeling and two-wave longitudinal data from 4393 Norwegian twins aged 18 to 31 we explored (i) heritabilities of symptoms of anxiety and depression, (ii) effects of genetic and environmental factors on the stability and change of such symptoms, and (iii) sex-specific effects. The phenotypic cross-time correlations for symptoms of anxiety and depression were estimated to .54 and .49 for males and females, respectively. The best fitting longitudinal model specified additive genetic and individual environmental influences and emerging effects from the shared environment for females only. For both males and females, long-term stability was mainly attributable to stable additive genetic factors, whereas change was essentially related to environmental influences. Minor time-specific genetic effects were indicated, and some stable variance was due to the individual environment. Additive genetic risk factors explained 87% and 68% of the phenotypic cross-time correlation for males and females, with the unique environment accounting for the remaining covariance. The results provide strong evidence for the temporal stability of genetic risk factors for symptoms of anxiety and depression in young adults, and substantial sex-specific influences on heritability, stability and change.

In recent years, there has been a renewed interest in the relationship between intelligence and personality. Extraversion, in particular, has been suggested to influence intelligence, but the direction of this relationship has been controversial (Wolf & Ackerman, 2005). In a young adult sample, the NEO PI-R was completed by 103 pairs of monozygotic twins, 181 pairs of dizygotic twins and 210 of their nontwin siblings. IQ data (Multidimensional Aptitude Battery) were available for approximately three quarters of this sample, and were collected at 16 years as part of an ongoing study of cognition conducted by the Queensland Institute of Medical Research. All extraversion facets were significantly influenced by genes with both additive and nonadditive genetic effects being important (heritabilities ranged from .25 for activity to .54 for warmth). While a significant correlation between the extraversion domain score and IQ was not found, the extraversion facet of excitement-seeking (E5) was significantly negatively correlated with both verbal (r = −.15) and performance (r = −.11) IQ scores. The facet of gregariousness was significantly correlated with verbal IQ only (r = −.09). The relationship between excitement-seeking and IQ was further shown to be solely due to additive genetic influences. These common genetic effects may stem from a dependence on brain dopamine, a neurotransmitter that has been implicated in both personality and cognition.

Many studies that found associations between depression and nicotine dependence have ignored possible shared genetic influences associated with antisocial traits. The present study examined the contribution of genetic and environmental effects associated with conduct disorder (CD) and antisocial personality disorder (ASPD) to the comorbidity of major depression (MD) and nicotine dependence (ND). A telephone diagnostic interview, the Diagnostic Interview Schedule-III-R, was administered to eligible twins from the Vietnam Era Twin (VET) Registry in 1992. Multivariate genetic models were fitted to 3360 middle-aged and predominantly white twin pairs (1868 monozygotic, 1492 dizygotic pairs) of which both members completed the pertinent diagnostic interview sections. Genetic influences on CD accounted for 100%, 68%, and 50% of the total genetic variance in risk for ASPD, MD and ND, respectively. After controlling for genetic influences on CD, the partial genetic correlation between MD and ND was no longer statistically significant. Nonshared environmental contributions to the comorbidity among these disorders were not significant. This study not only demonstrates that the comorbidity between ND and MD is influenced by common genetic risk factors, but also further suggests that the common genetic risk factors overlapped with those for antisocial traits such as CD and ASPD in men.

Genetic and environmental contributions to body size from birth to 5 years in a population-based twin cohort were studied. Sex differences in gene–environment etiology were also explored. Analyses used data from the Quebec Newborn Twin Study (QNTS), a population-based birth cohort of 672 twin pairs. The final sample consisted of 177 complete twin pairs. Heritability of weight was moderate at birth while common environmental factors accounted for almost half of the variance. Influence of family environment disappeared by 5 months and genetic effects were high (approximately 90%) for both sexes at 5 months and 5 years. Adjustment of weight for height yielded similar results as for weight alone. Slight but significant sex-limitation of genetic effects was observed at 5 months. Overall, genetic factors accounted for 40% of birthweight variance, with intrauterine environment influences explaining almost half. However, genetic factors accounted for most of the variance in weight. These results do not imply a lack of environmental effects on body weight, but rather a lack of: (1) environmental effects that are independent from genetic liability, and/or (2) a lack of significant environmental variation in the population (e.g., uniform nutritional habits) that leaves genetic differences between children to generate most of the variance in weight.

Neurofibromatosis type 1 (NF1) is the most frequent neurocutaneous disorder with autosomal dominant inheritance. Phenotype variability is high ranging from merely several café-au-lait spots to malignant peripheral nerve sheath tumors or severe disfigurement through plexiform neurofibromas. Identification of genetic factors that modify the NF1 phenotype would contribute to the understanding of NF1 pathophysiology and improve patient counselling. As even monozygotic (MZ) twins with NF1 may differ phenotypically, we wondered whether these variations might be inherited in a non-Mendelian fashion. Mitochondrial DNA (mtDNA) is inherited extrachromosomally through the cytoplasm of the oocyte and often harbours heteroplasmic sequence variations. At the time of blastomere separation, these variants may be skewedly distributed and effect phenotypic differences. Because of their co-localization with the tumor suppressor protein neurofibromin, which is mutated in NF1, mitochondria were particular attractive candidates for investigation. MtDNA was extracted from nucleated blood cells of four pairs of discordant MZ twins with NF1 and from cutaneous neurofibromas of one twin pair. We sequenced the entire mitochondrial genome and determined the state of heteroplasmy by investigating a microsatellite region of the mitochondrial D-loop (D310-tract). The clinical diagnosis was confirmed in all patients by detection of pathogenic mutations in the NF1 gene. Monozygosity was verified by genotyping. However, we did not detect evidence for mtDNA sequence differences or for different degrees of heteroplasmy between individuals of the same twin pair. The phenotypic discordance of MZ twins with NF1 cannot be explained by skewed distribution of mtDNA mutations or polymorphisms.

The gene expression profile of a normal-suffering monozygotic twin pair is investigated to explore biological mechanisms of spastic type cerebral palsy. Main works include following three aspects: First, a cDNA microarray test is carried out to get the differentially expressed genes of the patient with cerebral palsy compared to her monozygotic twin sister. Second, these differentially expressed genes are searched for their bioinformation within 4 biological databases: FatiGO, FatiGOPlus, KEGG, and SOURCE. Third, a set of special genes and gene families are screened out from the spastic type cerebral palsy patient. These biological analyses reveal that those genes for cell junction are mostly down-regulated, while those genes for metabolism are mostly up-regulated. The individual genes, gene family, and their associated biological functions can reflect the pathological and physiological characteristics of the cerebral palsy.

It is common opinion that the stillbirth rate is higher among monozygotic (MZ) than among dizygotic (DZ) twins. This is supported by the fact that stillbirth rates are higher among same-sexed than among opposite-sexed twins, and the relatively high stillbirth rates among twins of young mothers. In this study we present a method to estimate the stillbirth rates for MZ and DZ twins and identify the difference. We performed analyses based on the assumptions of (a) Weinberg's differential rule, including the assumption that the secondary sex ratio is 100, (b) the stillbirth rates among opposite-sexed twins hold for all DZ twins, and (c) the stillbirth rates estimated for MZ and DZ male and female twins yield for both sexes the observed total number of stillborn twins. Our methods are applied to data from Sweden, 1869–1967, the Åland Islands, 1750–1949, Saxony, 1881–1900, and England and Wales, 1996–2003. We observed that the ratio between the estimated stillbirth rates among MZ and DZ twins were on average 1.75, and the ratio among same-sexed and DZ (opposite-sexed) twins were on average 1.31. For Sweden and Saxony similar values were obtained, but for England and Wales the values were higher and for Åland lower. With exception of Åland, the estimated stillbirth rates were in all populations the lowest for DZ, medium for same-sexed and highest for MZ twins.

Advances in perinatal technology that improved survival may have also resulted in prolonged death from the neonatal to the postneonatal period for some infants. The objectives of this study were to determine if the medical advances that occurred in the 1990s benefited infants of multiple births more than their singleton counterparts, and if these changes prevented or postponed mortality for the smallest and most immature infants. The study population included live births of 22 to 43 weeks' gestation from the 1989–1991 and 1999–2001 US Birth Cohort Linked Birth/Infant Death Data Sets. Odds ratios were calculated to evaluate the change in risk by plurality, gestation, and to compare the change to that for singletons. Neonatal and infant mortality rates declined for all pluralities; postneonatal mortality increased for births at less than 26 weeks, but declined at later gestations. In general, the risk of death for twins and triplets compared to singletons decreased, and the improvement in survival was greater for multiples during the early neonatal period and overall. Infant mortality rates improved by 28% for singletons, 32% for twins and triplets during the 1990s, although for the most premature infants, some deaths were postponed from the early to the late neonatal period.

Our objective was to examine the neonatal outcome of second twins depending on presentation and mode of delivery. Using a database we analyzed the short-term neonatal outcome in twin pregnancies offered a trial of labor with special emphasis on the second twin depending on presentation and mode of delivery. Neonatal outcome was evaluated by Apgar scores, umbilical cord blood pH values, and perinatal or neonatal morbidity and mortality. Overall, in 219 (78%) of 281 pregnancies successful vaginal birth (VB) of both twins (VB–VB) was possible, 48 (17%) women had to be delivered by cesarean section (CS) of both twins (CS–CS), and in 14 (5%) women the second twin had to be delivered by CS after VB of the first twin (VB–CS). Successful VB was most common for vertex-vertex (V/V; n = 171, 82%) and vertex-nonvertex (n = 48, 75%) presentation (V/NV). Twins delivered by VB–CS had the lowest values for pHart (p = .006) and pHven (p = .010). pHart less than or equal to 7.00 values occurred only in second twins delivered VB–VB or VB–CS. Lower Apgar scores of the second twin occurred more frequently in the VB–CS and in the VB–VB than in the CS–CS groups (ps < .05). Lower levels of pHart (p = .002) and frequency of pHart less than or equal to 7.00 occurred more often in nonvertex second twins than in vertex second twins (p < .022). The high CS rate in V/NV presentation and the significantly worse perinatal short-term outcome of NV second twins after VB of the first twin underline that randomized studies are necessary to evaluate the best delivery mode for V/NV twins.

Twin research exploring genetic and environmental influences on athletic interests and talents is reviewed. Illustrative examples of twin athletes representing a variety of sports activities are presented. This is followed by an overview of twin studies offering critical insights into the onset and progress of leukemia. In the last section, timely events involving twins and parents of twins will be described — each case provides a new look at an old question.