Emily Simonoff

Autism as a strongly genetic disorder : evidence from a British twin study

Two previous epidemiological studies of autistic twins suggested that autism was predominantly genetically determined, although the findings with regard to a broader phenotype of cognitive, and possibly social, abnormalities were contradictory. Obstetric and perinatal hazards were also invoked as environmentally determined aetiological factors. The first British twin sample has been re-examined and a second total population sample of autistic twins recruited. In the combined sample 60% of monozygotic (MZ) pairs were concordant for autism versus no dizygotic (DZ) pairs; 92% of MZ pairs were concordant for a broader spectrum of related cognitive or social abnormalities versus 10% of DZ pairs. The findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci. Obstetric hazards usually appear to be consequences of genetically influenced abnormal development, rather than independent aetiological factors. Few new cases had possible medical aetiologies, refuting claims that recognized disorders are common aetiological influences.

Assortative mating for major psychiatric diagnoses in two population-based samples

BACKGROUNDnPrevious studies on assortment for psychiatric disorders have reported discrepant findings. We aimed to test whether there is a significant association for psychiatric diagnoses, including alcoholism, generalized anxiety disorder, major depressive disorder, panic disorder and phobias between husbands and wives in two population-based samples. We further evaluated whether marital resemblance occurs primarily within or across psychiatric disorders and if assortment for psychopathology is primary or secondary to assortment for correlated variables.nnnMETHODSnA model for mate selection addressed whether the correlation between mates for psychiatric disorders arises from direct assortment (primary homogamy) or through correlation with other variables for which assortment occurs (secondary homogamy) or through cross-variable assortment. The model accounted for within-person co-morbidity as well as across-spouse data.nnnRESULTSnFindings suggested that a moderate degree of assortment exists both within and across psychiatric diagnoses. Only a small amount of the observed marital resemblance for mental illness could be explained by assortment for correlated variables such as age, religious attendance and education. Similar results were obtained for the two samples separately and confirmed in their joint analysis, revealing that the co-morbidity and assortment findings, except for the marital correlation for age, religious attendance and education, replicate across samples.nnnCONCLUSIONSnSignificant but moderate primary assortment exists for psychiatric disorders. The bias in twin studies that have ignored the small amount of assortment is negligible.

Genetic and environmental influences on child reports of manifest anxiety and symptoms of separation anxiety and overanxious disorders: a community-based twin study.

Genetic and environmental influences in the determination of individual differences in self-reported symptoms of separation anxiety (SAD), overanxious disorder (OAD), and manifest anxiety (MANX) were evaluated in children and adolescents for three age groups (8–10, 11–13, and 14–16). Symptom counts for SAD and OAD were assessed for 1412 twin pairs using the childrens version of the Child and Adolescent Psychiatric Assessment, and MANX scores were based on child report from the Revised Childrens Manifest Anxiety Scales. Despite significant age and gender differences in thresholds of liability for child reports of symptoms of SAD and OAD, additive genetic and environmental effects could be set equal across age and gender for these variables. For MANX, however, the best-fitting model was a common effects sex-limitation model with estimates of heritabiliry varying dependent upon age and gender. Parameter estimates from the ACE models of OAD and SAD showed that additive genetic variation was a necessary component in the explanation of individual differences in child-reported symptoms of OAD (h2 = .37) across gender, but does not appear to be a major contributor to the explanation of individual differences in symptoms of SAD reported by children. Shared environmental effects (c2 = .40) were found to play a moderate role for SAD but could be dropped from the model for OAD and from all of the age groups for MANX, although the parameter approached significance among 11 yr to 13-year-old males.

The Virginia Twin-Family Study of Adolescent Behavioral Development: assessing sample biases in demographic correlates of psychopathology.

The Virginia Twin-Family Study of Adolescent Behavioral Development (VTSABD) is a current longitudinal study of psychopathology in 1412 pairs of 8-16-year-old Caucasian twins and their parents. The primary aim of the study is to evaluate family-genetic and environmental risk factors for major domains of psychopathology in families representative of the Virginia Caucasian population. In this report, we utilize census-derived indices of neighbourhood income and urban residence to identify departures from population representation arising at the time of family enrollment in the twin registry and family participation in a psychiatric interview. Furthermore, we consider whether demographic sample biases influenced prevalence rates of adult psychopathology (including major depression, generalized anxiety disorder, alcohol dependence, phobias, and panic disorder) in the VTSABD. Results indicated that families that enrolled in the twin registry (83% of those identified by Virginia schools) and that participated in the home interview (75% of those targeted) resided in urban and rural communities with a range of per capita income levels representative of the Virginia population. However, participation biases operated throughout the study and were primarily characterized by losses of families living in low income, urban communities. There was also a smaller number of families living in high income neighbourhoods that did not enroll in the twin registry or that indefinitely postponed the psychiatric interview. These biases had small effects on prevalence rates of adult psychopathology in the VTSABD sample, even though neighbourhood income was significantly related to a subset of adult diagnoses. We emphasize the usefulness of the census methodology in evaluating sample biases in population-based psychiatric genetic studies.

Genetic and environmental influences on ratings of manifest anxiety by parents and children.

Parental reports and childrens self-reports of manifest anxiety were obtained from a community-based sample of twin pairs on two occasions approximately 19 months apart, using the Revised Child Manifest Anxiety Scale (Reynolds & Richmond, 1978). In prior cross-sectional studies, a low degree of agreement between parent and child assessments of anxiety was found. Furthermore, parental reports were found to reflect a higher heritability than childrens self-reports (Eaves et al., 1997; Thapar & McGuffin, 1995). The index of temporal stability was moderate for all informants (circa r = .5 to r = .6). To test whether the components contributing to the temporal stability differed between the informants, structural equation models were fitted to the data using the program, Mx: Statistical Modeling (Neale, 1995). The results showed substantial differences in genetic effects according to both gender and informant. For childrens self-reports, temporal stability was largely a function of environmental effects, with genetic effects contributing a modest 20%, whereas for parental reports, temporal stability was largely a function of genetic effects. The heritability was higher for parental reports than for boys self-reports and the genetic covariance between parents and their sons was near zero, indicating that they were reporting on quite different aspects of anxiety. However, for girls, heritability for maternal reports was lower than for self-reports, and the genetic covariance between mother and daughter was about the same as that between mothers and fathers, meaning that they were assessing the same genetically influenced aspect of anxiety. These results highlight the need to focus on gender differences.