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Clinical evidence of genomic imprinting in Tourette's syndrome.

Recent genetic studies of Tourette's syndrome (TS) have suggested a sex-specific expression of TS behaviors but not a sex-associated difference in their transmission. In a retrospective study designed to assess the influence of gender of the affected parent on childhood TS phenotype, we compared unmedicated TS subjects with patrilineal (n = 25) or matrilineal (n = 25) inheritance of TS, as determined by family history methodology, with respect to demographic variables, temporal profile of tic evolution, and clinical ratings of tics and associated behaviors, particularly obsessive-compulsive symptoms and attention deficit hyperactivity disorder (ADHD). Maternal transmission of TS was characterized by trends toward greater motor tic complexity and more frequent noninterfering rituals (p < 0.05); paternal transmission was associated with increased vocal tic frequency (p = 0.01), an earlier onset of vocal tics relative to motor tics (p < 0.01), and more prominent ADHD behaviors, including motor restlessness (p < 0.01). These findings are consistent with genomic imprinting in TS. Confirmation of this phenomenon promises not only to advance understanding concerning the genetic link between TS and ADHD but may also help to explain the apparent fit of competing models of genetic transmission in TS.

Adolescent↗

Parental educational level and cardiovascular disease risk factors in schoolchildren in large urban areas of Turkey: directions for public health policy.

BACKGROUND: It is widely accepted that the development of atherosclerosis starts at an early age. However, there are very few studies evaluating the prevalence of the common clinical and behavioral cardiovascular disease (CVD) risk factors among children, especially in developing countries. The aim of the present cross-sectional survey was to evaluate the distribution of blood lipid profile and various behavioral (i.e. dietary habits, physical activity status) factors related to CVD risk and its relationships to paternal (PEL) and maternal educational level (MEL) among primary schoolchildren in Turkey. METHODS: In three major metropolises in Turkey (Istanbul, Ankara and Izmir), a random sample of 1044 children aged 12 and 13 years old was examined. ANOVA was applied to evaluate the tested hypothesis, after correcting for multiple comparisons (Tukey correction). RESULTS: After controlling for energy and fat intake, physical activity status and Body Mass Index (BMI), it was found that mostly PEL had a significant positive effect for most of the subgroups examined (Lower vs. Higher and Medium vs. Higher) on TC and HDL-cholesterol and a negative effect on TC/HDL ratio for both genders. Furthermore, both boys and girls with higher PEL and MEL were found to have higher energy intake derived from fat and protein than their counterparts with Medium and Lower PEL and MEL, while the opposite was observed for the percentage of energy derived from carbohydrates. CONCLUSIONS: Our study provides indications for a possible association between an adverse lipid profile, certain dietary patterns and Higher PEL and MEL among schoolchildren in Turkey. These findings underline the possible role of social status, indicated by the degree of education of both parents, in developing certain health behaviors and health indices among Turkish children and provide some guidance for Public Health Policy.

Adolescent↗

Size breeds success: multiple paternity, multivariate selection and male semelparity in a small marsupial, Antechinus stuartii.

Mating in the marsupial genus Antechinus is a synchronous annual event that is characterized by monoestry in females and abrupt postmating mortality in males. Male semelparity (multiple copulations during a single breeding season per lifetime) is often assumed to occur as a consequence of the intense mating effort expended by males in the rut, but the forces selecting for this remain elusive. Here, we investigate selection in male brown antechinus, Antechinus stuartii, and test two hypotheses for the evolution of semelparity: intermale competition and sperm competition. If intermale competition drives semelparity, we predicted that males would be under strong selection for large body size. If sperm competition is important, we predicted that selection would be strongest on scrotal size, a surrogate for testes volume. Using microsatellite markers, we found that 92% of females in free-living conditions mated with multiple males, producing litters of eight that had up to four fathers. These observations confirm the potential for sperm competition. Using selection analysis, we then found paternity success in 119 males to be related most strongly to body mass and scrotal size, thus providing support for both hypotheses. Large males presumably experience increased paternity success by gaining more matings or prolonged copulations via mate guarding, while large testes may allow increased sperm investment per copulation. Increased levels of free corticosteroid hormones in males facilitate the extreme mating effort during the short period of rut, but lead to immune suppression and consequently to the phenomenon of postmating mortality.

Animals↗

Suicidal behavior among chronic Vietnam theatre veterans with PTSD.

Suicidal behavior among Vietnam veterans with chronic Post-traumatic Stress Disorder (PTSD) was evaluated. Sixty chronic PTSD vets admitted to a Specialized PTSD Unit were divided into two groups based on the presence of suicidal behavior: 29 patients in a Suicide Group and 31 in a Non-suicide Group. Subjects were evaluated on symptoms, psychometric measures, military variables, adjustment factors, and pre-military parental patterns of discipline. Results showed that the Suicide Group possessed problems in paternal child-rearing patterns, current adjustment difficulties, and the PTSD symptoms of survival guilt and crying. In a regression analysis, paternal inconsistency of love, survivor guilt, and tendency to cry, in addition to age and sex, accounted for the significant variance of suicidal behavior.

Chronic Disease↗

A sperm-supplied product essential for initiation of normal embryogenesis in Caenorhabditis elegans is encoded by the paternal-effect embryonic-lethal gene, spe-11.

Loss-of-function mutations in the spe-11 gene in Caenorhabditis elegans result in a paternal-effect embryonic-lethal phenotype: fertilization of wild-type oocytes by sperm from homozygous spe-11 mutant males leads to abnormal zygotic development, whereas oocytes from homozygous spe-11 hermaphrodites when fertilized by wild-type sperm develop normally. Embryos fertilized by sperm from homozygous spe-11 worms fail to complete meiosis and show defects in eggshell formation, mitotic spindle orientation, and cytokinesis. Genetic analysis suggests that the spe-11 gene is expressed before the completion of spermatogenesis and that the wild-type locus encodes a product that is present in sperm and participates, directly or indirectly, in initiating the correct program of early events in C. elegans embryos. Such an ontogenetic role of the spe-11+ gene product in early embryogenesis distinguishes spe-11 mutations from the two paternal-effect mutations identified in Drosophila, ms(3)K81 and pal, which primarily affect chromosome behavior. Analysis of spe-11 provides the first step toward genetic dissection of the functions of the sperm in early embryogenesis in C. elegans.

Animals↗

A forty year perspective on effects of child abuse and neglect.

Case records written between 1939 and 1945 were used to divide 232 males among four categories, according to how they had been treated as children: "Neglected," "Abused," "Rejected," or "Loved." The groups were similar in terms of poverty and proportions from broken homes. The abused and the rejected were more likely to have been reared by aggressive parents. In addition, the abused were most likely to have also been exposed to high demands for adult behaviors and dominant fathers. The rejected were most likely to have experienced parental conflict and paternal alcoholism or criminality. And the loved were most likely to have been raised by self-confident mothers. Between 1975 and 1979, 98% of the men were retraced. Records for juvenile delinquency showed higher rates among the abused, neglected, and rejected boys than among those raised by loving parents. Rates of alcoholism, divorce, and occupational success were similar among the four groups. Approximately half the abused or neglected boys had been convicted for serious crimes, become alcoholics or mentally ill, or died when unusually young. Although paternal alcoholism and criminality were not related to the occurrence of child abuse, they were related to damage from such abuse. Maternal self-confidence and education appeared to decrease vulnerability to the adverse impact of child abuse.

Aggression↗

Prader-Willi syndrome: atypical psychoses and motor dysfunctions.

Prader-Willi syndrome (PWS) is the result of a lack of expression of genes on the paternally derived chromosome 15q11-q13 and can be considered as a hypothalamic disorder. Its behavioral phenotype is characterized by ritualistic, stereotyped, and compulsive behaviors as well as motor abnormalities. After adolescence, recurrent affective psychoses are relatively frequent, especially in patients with uniparental disomy. These psychotic states have a subacute onset with complete recovery and comprise an increase of psychomotor symptoms that show resemblance with catatonia. Some evidence has emerged that gamma-aminobutyric acid (GABA) dysfunctionality is involved in both PWS and catatonia. Treatment of these atypical psychoses should preferably include GABA mimetic compounds like lorazepam, valproic acid, and possibly topiramate.

Adolescent↗

Sexual strategies theory: an evolutionary perspective on human mating.

This article proposes a contextual-evolutionary theory of human mating strategies. Both men and women are hypothesized to have evolved distinct psychological mechanisms that underlie short-term and long-term strategies. Men and women confront different adaptive problems in short-term as opposed to long-term mating contexts. Consequently, different mate preferences become activated from their strategic repertoires. Nine key hypotheses and 22 predictions from Sexual Strategies Theory are outlined and tested empirically. Adaptive problems sensitive to context include sexual accessibility, fertility assessment, commitment seeking and avoidance, immediate and enduring resource procurement, paternity certainty, assessment of mate value, and parental investment. Discussion summarizes 6 additional sources of behavioral data, outlines adaptive problems common to both sexes, and suggests additional contexts likely to cause shifts in mating strategy.

Biological Evolution↗

Celiac disease as a manifestation of Munchausen by proxy.

In typical cases of Munchausen by proxy maltreatment, a mother feigns or produces illness in her child. Her primary goal is to accrue emotional gratification, and no mental disorder better accounts for the behavior. We present the first published case in which the principal manufactured ailment was celiac sprue. In addition, a panoply of other ailments ranging from seizures to behavioral abnormalities was reported. The case is also very unusual in the involvement of the paternal grandmother and, to a lesser extent, the paternal grandfather as the perpetrators. Although definitive intervention to protect the child occurred only after 7 years had passed, multidisciplinary teamwork ultimately resulted in a successful outcome for the child, who is now doing well.

Celiac Disease↗

Child adjustment as related to severity of paternal disability.

Many rehabilitation professionals have speculated that the more severe a parent's physical disability, the more disruptive are the effects on family life and child development. The present study tested this prediction by comparing children of fathers with paraplegia and quadriplegia on measures of personality adjustment, sex role identification, body image, health patterns, athletic interests, interpersonal relationships, parent-child relations, values, and attitudes. Few relationships between severity of paternal disability and child adjustment were found on more than 150 variables of child personality, behavior, and attitudes. When 6 variables showed differences between children of fathers with quadriplegia and paraplegia, there was no evidence of disturbed development in either group.

Adolescent↗

Analysis of imprinted murine Peg3 locus in transgenic mice.

Peg3 is an imprinted gene exclusively expressed from the paternal allele. It encodes a C(2)H(2) type zinc-finger protein and is involved in maternal behavior. It is important for TNF-NFkB signaling and p53-mediated apoptosis. To investigate the imprinting mechanism and gene expression of Peg3 and its neighboring gene(s), we used a 120 kb Peg3-containing BAC clone to generate transgenic mice. The BAC clone contains 20 kb of 5' and 80 kb of 3' flanking DNA, and we obtained three transgenic lines. In one of the lines harboring one copy of the transgene, Peg3 was imprinted properly. In the other two lines, Peg3 was expressed upon both maternal and paternal transmission. Imprinted expression was linked to the differential methylation of a region (DMR) upstream of the Peg3 gene. A second, maternally expressed gene, Zim1, present on the transgene was expressed irrespective of parental inheritance in all lines. These data suggest that, similar to other imprinted genes within domains, Peg3 and Zim1 are regulated by one or more elements lying at a distance from the genes. The imprinting of Peg3 seen in one line may reflect the presence of a responder sequence. Concerning the expression of the Peg3 transgene, we detected appropriate expression in the adult brain. However, this was not sufficient to rescue the maternal behavior phenotype seen in Peg3 deficient animals.

Animals↗

Family conflict and children's internalizing and externalizing behavior: protective factors.

The current investigation examined whether the positive association of family conflict to adolescent depression and conduct problems is attenuated by maternal, paternal, and peer attachment, and maternal and paternal monitoring, within a low-income, multiethnic sample of 284 adolescents. Parental attachment and monitoring moderated the link from family conflict to conduct problems but not depression; the relationships among family conflict, the hypothesized protective factors, and conduct problems were further modified by adolescent gender but not ethnicity. In general, higher levels of the hypothesized protective factors attenuated the relationship between family conflict and conduct problems for girls but exacerbated this relationship for boys. These findings suggest that, in general, parental attachment and monitoring served as protective factors for girls while serving as additional risk factors for boys in conflictual families.

Adolescent↗

Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?

Given that natural selection is so powerful at optimizing complex adaptations, why does it seem unable to eliminate genes (susceptibility alleles) that predispose to common, harmful, heritable mental disorders, such as schizophrenia or bipolar disorder? We assess three leading explanations for this apparent paradox from evolutionary genetic theory: (1) ancestral neutrality (susceptibility alleles were not harmful among ancestors), (2) balancing selection (susceptibility alleles sometimes increased fitness), and (3) polygenic mutation-selection balance (mental disorders reflect the inevitable mutational load on the thousands of genes underlying human behavior). The first two explanations are commonly assumed in psychiatric genetics and Darwinian psychiatry, while mutation-selection has often been discounted. All three models can explain persistent genetic variance in some traits under some conditions, but the first two have serious problems in explaining human mental disorders. Ancestral neutrality fails to explain low mental disorder frequencies and requires implausibly small selection coefficients against mental disorders given the data on the reproductive costs and impairment of mental disorders. Balancing selection (including spatio-temporal variation in selection, heterozygote advantage, antagonistic pleiotropy, and frequency-dependent selection) tends to favor environmentally contingent adaptations (which would show no heritability) or high-frequency alleles (which psychiatric genetics would have already found). Only polygenic mutation-selection balance seems consistent with the data on mental disorder prevalence rates, fitness costs, the likely rarity of susceptibility alleles, and the increased risks of mental disorders with brain trauma, inbreeding, and paternal age. This evolutionary genetic framework for mental disorders has wide-ranging implications for psychology, psychiatry, behavior genetics, molecular genetics, and evolutionary approaches to studying human behavior.

Adaptation, Physiological↗

Psychometric properties of a new measure of fathers' involvement in the management of pediatric chronic diseases.

OBJECTIVE: Despite theoretical and empirical reasons suggesting its potential importance, paternal involvement in the management of pediatric chronic diseases has rarely been a primary focus of research on family adaptation to pediatric disease. This may be due to a lack of appropriate tools to measure relevant behaviors. This study assessed the reliability and validity of the Dads' Active Disease Support scale (DADS), which was designed to measure male and female caregivers' estimates of the amount and helpfulness of paternal involvement in managing six pediatric chronic diseases. METHOD: A sample of 224 heterosexual couples completed the DADS and measures of mother, child, and family functioning, yielding 190 who completed data sets. Of these, 91 mothers and 88 fathers completed the DADS again after a 1-month interval. RESULTS: Results confirmed DADS internal consistency, test-retest reliability, and interparent agreement. Confirmatory factor analysis supported its construct validity: A two-factor model (amount and helpfulness of fathers' involvement) best accounted for participants' responses. Significant correlations with scores on the Family Assessment Device supported DADS convergent validity. DADS scores of mothers and fathers suggest substantial room for improvement in both the amount and the helpfulness of paternal involvement in disease management. Mothers provided significantly higher ratings of the helpfulness of fathers' involvement than did fathers. CONCLUSIONS: The DADS appears to be a reliable and valid measure for studies of the associations between paternal involvement in disease management and child, maternal, and family adaptation to pediatric chronic medical conditions.

Adaptation, Psychological↗

The effects of holding the newborn at delivery on paternal bonding.

Thirty-seven married first-time fathers attending uncomplicated deliveries of normal infants were randomly assigned to two groups, holding or not holding at delivery. At 12 to 36 hours postpartum, bonding behavior frequencies were recorded during ten minutes of father-infant interaction. Two observers measured the behaviors; verbal interaction, smiling, eye contact, fingertip and whole-hand touching. Analysis of the data by multivariate analysis of variance (MANOVA) and univariate analysis of variance (ANOVA) revealed no difference between the groups (p greater than .05). More bonding behaviors were noted with increased levels of education, male infants, breastfed infants, and outlet-forcep or cesarean-section deliveries. Early contact did not appear to enhance bonding, although several other factors seemed to be related, indicating a need for further study on paternal bonding.

Adult↗

Multiple paternity in Littorina obtusata (Gastropoda, Littorinidae) revealed by microsatellite analyses.

Parental identity for juvenile Littorina obtusata was determined from three egg masses by means of microsatellite DNA markers. Results confirm that the attendant adult female in each case was the dam of the offspring and that at least 4-6 males contributed to each brood. This correlates with our behavioral observations that indicated multiple copulations between the female and several males in each experimental aquarium. A significant number of offspring from each brood were sired by non-sampled males (males that had copulated with females before capture) whose sperm had been stored by the female. This is the first direct evidence of multiple paternity in the Littorinidae. Results are discussed in reference to current theories of sperm competition, male precedence, and cryptic female choice.

Animals↗