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The authors combine known models for the evolution of (a) strategies in animal conflicts, and (b) gene frequencies for differential fecundity in order to relate the sociobiological notion of evolutionarily stable strategy with the genetic mechanism of Mendelian populations.
PURPOSE/METHOD: There is increasing agreement that many genetic disorders have characteristic behavioural phenotypes; that is genetic anomalies have specific effects on behaviour. In this paper the existing literature is reviewed with an aim to identify behavioural and emotional features that are candidates for Rett syndrome (RS) specific behaviours. RESULT/CONCLUSION: A number of behavioural and emotional features have been reported to be common in individuals with RS. These behaviours may constitute an RS-specific profile of behaviour or behavioural phenotype. Alternatively, these behaviours may simply reflect the multiple disabilities found in individuals with severe or profound cognitive impairment. The diagnostic criteria for Rett syndrome include a number of the behavioural features, such as hand stereotypies and breathing difficulties, although other behavioural features are not included.
It is argued here that bioethicists might inadvertently be promoting genetic determinism: the idea that genes alone determine human traits and behaviours. Discussions about genetic testing are used to exemplify how they might be doing so. Quite often bioethicists use clinical cases to support particular moral obligations or rights as if these cases were representative of the kind of information we can acquire about human diseases through genetic testing, when they are not. On other occasions, the clinical cases are presented in simplistic ways that portray genetic testing as yielding information more accurate than it actually is. It is concluded that, because of the problematic implications that the ideology of genetic determinism might have for individuals' wellbeing and for our public policies, bioethicists should be careful to present these issues in ways that do not promote questionable ideas about the causal role of genes in human diseases and behaviours.
The idea that heredity could influence behaviour, including personality is very old. Until the early 1980s, the evidence for genetic influences on personality derived almost exclusively from twin studies. More recently, studies comparing twins raised together with those raised in different environment confirmed that about 40% of the observed personality variance can be attributable to genetic factors. Since complex behaviours, such as those underlying personality functioning, are likely to be influenced by many genes, a continuum of genetic risk underlying behavioural dimensions that extend from normal to abnormal behaviour has been hypothesized. Behaviours related to aggressive impulses regulation could delineate a biologically anchored model of dispositions to both normal and pathological functioning: these behaviours are identified in animal species where they are genetically transmitted, and a growing body of evidence suggests that disturbances in the regulation of aggressive impulses could belong to a behavioural dimension (disturbances of impulse control) linked to serotonin. Theorists involved in modelling personality according to psychobiologic basis agree with the idea of an inhibitory function of serotonin on impulsive behaviour and recognise that the way individuals control their impulses could underlie a basic psychobiological personality dimension. According to genotypes and to environmental factors, these serotonin mediated behaviours may be diversely expressed varying from minor personality peculiarities (characterised by impulsivity, hostility, irritability, psychopathic deviance, excessive violence or by more clear-cut personality dysfunctioning such as antisocial, borderline, narcissistic and histrionic personality traits or disorders) to major psychiatric disturbances (suicidal behaviour, overt aggressive behaviour, intermittent explosive disorder, pathological gambling, pyromania, bulimia and some type of substance or alcohol abuse). Finally, recent molecular genetic studies have demonstrated that genes encoding some key proteins involved in serotonin transmission could present some polymorphism in relation with impulsive-aggressive behaviours.
Not only do genetic traits sometimes translate into physical and mental illnesses, they may also manifest themselves as tendencies towards certain behaviours. This discovery has led to the misinterpretation and misapplication of genetic information, and has been directed to unforeseen uses, from criminal defence to genetic racism. The issue is especially sensitive when deciding if and when parents should have access to the genetic information of their children. The author begins with an overview of the principles of behavioural genetics and types of behaviour currently under study. Next, the social and psychological risks associated with genetic testing are presented, along with guidelines necessary to distinguish between testing which is therapeutic and that which is non-therapeutic. The distinction is a crucial one, as the author proposes a therapeutic-benefit test, advocating testing only where an effective intervention is available. Finally, the author concludes that legislation is the more appropriate medium for defining the extent of parental rights once intervention is allowed rather than leaving physicians to decide on a case-by-case basis.
We examined the adult neural phenotypes of the Bent tail mutant mouse. The Bent tail mutant mouse was recently shown to lack a submicroscopic part of the X chromosome containing the Zic3 gene, which encodes a zinc-finger protein controlling vertebrate neural development. While nearly one-fourth of hemizygous Bent tail (Bn/Y, Zic3-deficient) mice developed neural tube defects in their midbrain and hindbrain region, the other Bn/Y mice showed apparently normal behaviour in a C57BL/6 genetic background. A battery of behavioural and eye movement tests revealed impaired spontaneous locomotor activity, reduction of muscle tone and impairments of vestibuloocular and optokinetic eye movements in these mice. Morphological examination of the mutant brain showed a significant reduction in the cell numbers in the cerebellar anterior lobe and paraflocculus-flocculus complex. Our results indicate that the cerebellar dysgenesis characterized by subregional hypoplasia affects the locomotor activity, muscle tone and eye movement control of the mice. These findings may have some clinical implications in relation to disorders characterized by cerebellar dysgenesis, such as Joubert syndrome.
Molecular genetics don't explain the behaviour of cells. It is well known, however, that changes in behaviour precede changes of genetic manifestation. Since only soma cells are working onto-genetically throughout life, they should be thought capable of evolutionary functions. Their precedence is possible because of their surplus of genetic outfit, and the soma cells even must precede from the zygote stage on when their "struggle for life" starts. This notion of Darwin ("struggle for life") should therefore be more emphasized as motor force than his other 2 notions: "variation" and "selection". The phylogenetic development of the egg-tooth of sauropsids is taken as an example for this change-over in evolutionary theorization.
1. Behavioural development in groups of 8 pullets kept in pens with litter floors, and fed on either mash or pellets, was studied from 0 to 10 weeks in a White Leghorn x broiler (F2) hybrid line (experiment 1) and from 0 to 24 weeks in Hisex, White Leghorn and Brown Leghorn strains (experiment 2). The aim was to identify precursors of feather pecking and cannibalism. 2. Rates of body weight gain were consistently greater with pellets than with mash in both experiments. In experiment 2, the onset of lay was at 17 weeks of age in Hisex, 21 weeks in White Leghorns and 23 weeks in Brown Leghorns. 3. Persistent feather pecking, which was not seen in experiment 1, developed in 2 of 12 groups (one Hisex and one White Leghorn, both fed on pellets) in experiment 2, and was studied in detail at 23 and 24 weeks. The more damaging pecking in the Hisex group was followed by cannibalism in the same group. 4. Based on the (often inconsistent) effects of genetic strain, age and food form on behaviour that were observed, a working hypothesis was constructed to account for the aetiology of feather pecking and cannibalism in situations where there is floor litter. 5. An age-related decline in one or more foraging activities may coincide with increases in preening and non-damaging pecking at other birds. Consumption of litter particles and moulted feathers may be reinforcing. Dustbathing may enhance the stimulus value of litter particles when they are contrasted against background plumage colour. This may direct pecking towards the backs of birds, where feathers as well as litter particles may be removed and eaten. Regular pecking and feather removal may lead eventually, after the onset of lay, to vent pecking and cannibalism. This sequence of events may be more likely in groups where activity levels are high.
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Obesity in children arises from a complex interplay between genetic susceptibility and behaviour, primarily relating to dietary habits and physical activity. Evidence for specific behavioural factors that promote or protect against excess weight gain in children is more limited than in adults, and the effects of growth and development are not clear. A number of behavioural risk factors has been postulated, including diets with a high energy density, high consumption of sugar-sweetened beverages, large portion sizes, eating patterns, high levels of sedentary behaviour and low levels of physical activity. However, most evidence is derived from cross-sectional studies which frequently yield conflicting results. More prospective studies with accurate measures of exposures and outcomes in terms of body composition are needed to provide more robust evidence on which to base interventions to achieve long-term behavioural change and prevent excess weight gains in children.
The nature of the mechanisms underlying observed sex differences in human behaviour continues to be debated. This review concentrates on the thesis that genes on the sex chromosomes other than those directly controlling sex determination, and whose functions are, at least in part, independent from hormonal influences, play a significant role in determining gender differences in behaviour. To provide an adequate basis for examining this issue, the current understanding of the nature of sex determination, differences in behaviour and the influences of sex hormones are evaluated. The possible contribution to behavioural differences of those X-linked genes which escape inactivation, or which may be subjected to imprinting, is discussed. The review concludes with a summary of the genetic basis for two sexually disparate types of behaviour.
Both twin and family studies have revealed the involvement of genetic factors in disorders that affect the regulation of body weight, such as obesity and anorexia nervosa. However, pinpointing the genes that contribute to these human disorders has not yet been very successful. In contrast, genetic studies in animals have been basic for the identification of many genes involved in the regulation of various physiological processes of energy metabolism. We thus plan to review here ways in which findings from animal studies and what is known about behavioural diversity in the human population with eating disorders can be combined. This would probably optimise phenotype-based candidate gene analysis in humans.
Lewis (LEW) and spontaneously hypertensive rats (SHR) have been shown to differ in a series of fear-related behaviours measured in different anxiety/emotionality tests. In the present study, we have investigated some of the genetic mechanisms underlying these differences. To this end, male and female rats from the two inbred strains were crossed to produce two parental (LEW and SHR), two F1 (LEW or SHR mother), and two F2 (LEW or SHR grandmother) groups. All rats were tested in the elevated plus-maze and in the open field, besides being characterised for systolic blood pressure (BP). LEW rats approached the open arms of the plus-maze and the central area of the open field less than SHRs. The two strains also differed in their BP (SHR > LEW). LEW/SHR differences were found to be due to direct effects of the genes, rather than to indirect maternal and grand-maternal effects. Central locomotion in the open field was shown to be the most heritable of all the traits considered herein. A factor analysis on the segregating F2 population produced three independent factors. The first one was associated to measures of anxiety from the elevated plus-maze, and the second to measures of locomotion in novel environments. Factor scores revealed that the parental strains differ in relation to the first but not to the second factor. This study demonstrates the usefulness of coupling genetic and multifactorial methods to investigate behavioural traits and it confirms LEW and SHR strains as an interesting genetic tool for the study of anxiety.
The brain is known to be structurally abnormal in schizophrenia, with replicated findings between anatomical deficits and some dysfunctions. These structure-function associations have, however, only very rarely been studied in relatives at risk of schizophrenia. We studied the relationships between structure and schizotypal features (assessed using RISC and SIS) and verbal learning and memory (measured using RAVLT) in relatives at high risk of developing schizophrenia and normal controls. Since these behavioural test scores are strong predictors of schizophrenia in the Edinburgh High Risk Study, we hypothesised that these relationships would differ between those high-risk subjects who will develop schizophrenia from those who will not. We performed multiple regressions of the grey matter segments of the subjects and controls, produced using grey matter optimised, voxel-based morphometry, with their RAVLT, SIS and RISC scores in SPM. Where significant relationships were found, we used SPSS to test for subject group by behavioural score interactions. In those high-risk subjects who became ill, grey matter density (GMD) was significantly correlated with RISC in the left superior temporal gyrus. In subjects who remained well, SIS was significantly correlated with GMD in the right pulvinar. Across the whole HR group, GMD in the right medial dorsal thalamic nucleus was significantly correlated with RAVLT. In those subjects who developed symptoms, RAVLT significantly correlated with GMD in right parahippocampal gyrus whereas in those who became ill, significant correlations existed bilaterally in the pulvinar. These results suggest complex and changing patterns of structural-functional relationships in those subjects at high-risk of schizophrenia.
The new genetics is having an impact on many areas of healthcare. Diversity in the genetic code accounts for differences in phenotypes between populations and it is becoming apparent that genetic differences may have a role in predisposition to and behaviour of disease. Genetic models suggest that there are two types of genetic predisposition to disease: the so-called high and low penetrance genes. At present, most of the impact on medicine has been from highly penetrant genes, and genetic testing for disease predisposition, particularly for diseases of late onset (e.g. certain cancers) is in its infancy. As a general statement, approximately 5-10% of common cancers are due to such highly penetrant genes. The category of genes that will become of increasing interest is that of the low penetrance genes. Often these are normal variations in genes that result in a slightly increased risk of disease. These are analogous to high blood pressure carrying an increased risk of cardiovascular disease. Once rapid genetic analysis is available for these types of genes, such analysis would be analogous to taking someone's blood pressure in a general practitioner's (GP's) surgery to identify individuals at increased risk of cardiovascular disease. This will produce a revolutionary change in the way we practise medicine. Genetic analysis will become faster and may therefore be more commonplace. It is possible to envisage an era when genetic analysis will become a routine part of primary care to identify changes in low penetrance genes that will confer a 'risk profile' for patients. This will then enable their primary care physicians to advise about primary prevention and even prescribe certain preventive drugs to decrease the risk of certain diseases occurring. This proactive rather than reactive style of practising medicine is potentially exciting, however it carries with it ethical, legal and social implications for how we deal with this new knowledge.
BACKGROUND: The study of the behaviour profile in subjects with Prader-Willi Syndrome (PWS). METHODS: A total of fifty-eight 3- to 29-year-old subjects with PWS were studied using a standardized parent report of behavioural and emotional disturbances. RESULTS: There was an increase of behavioural and emotional disturbances for the adolescent and young adult age range, whereas gender and intelligence were not significant. Increasing body mass index (BMI) was also associated with more behavioural and emotional disturbances. There was no significant relation between genetic status and behavioural abnormalities. CONCLUSIONS: This systematic study supports single case observations of a heightened psychiatric vulnerability of adolescent and young adult PWS subjects.
INTRODUCTION: Angelman syndrome (AS) is characterised by mental retardation, ataxic gait, epilepsy, absence of language and a special series of physical traits behavioural phenotype. Its incidence is estimated as one in every 20,000 individuals. On the basis of discoveries made in molecular biology, patients can be classified as belonging to five types: deletion, paternal uniparental disomy (UPD), imprinting defects, mutation of the UBE3A ubiquitin protein ligase gene and unidentified mechanism (15% 20% of patients). Some studies report significant correlations between the phenotype and the genetic cause. PATIENTS AND METHODS: We reviewed, retrospectively, 37 patients suffering from AS with a positive genetic study and who had been controlled for at least two years in the Neurological Service at the Hospital Sant Joan de D u. Data was collected on physical characteristics, behavioural phenotype, type of communication, sleep disorders and the medication they needed, as well as epilepsy, start age, types of seizures, medication, schooling and social integration. RESULTS: 87% of cases were due to de novo deletion, 8% were caused by UPD, and 5% had their origins in imprinting defects. The average age of diagnosis was 6.5 years. The sleep disorders present in 48% of the patients required medication in 67% of cases, and 95% presented epilepsy. The most frequent seizures were myoclonic, tonic clonic and atonic. The electroencephalogram (EEG) was the characteristic found in the AS in 68%. The most effective treatment was afforded by valproate and clonazepam. CONCLUSIONS: As regards the phenotype, no differences were found according to the genetic alteration. The most effective treatment for the sleep disorders was melatonin. Epilepsy was an almost constant finding in our series, as was cognitive affectation. Lastly, it must be pointed out that educational and socio occupational integration is difficult for patients suffering from AS.
The behaviour of spontaneously hypertensive rats (SHR) may model attention-deficit hyperactivity disorder. For example, SHR are hyperactive in an open field and show high terminal rates of responding on certain fixed-interval schedules. Open field behaviour has been dissociated from the accompanying spontaneous hypertension but fixed interval responding has not. We compared the fixed interval responding of two unrelated strains of genetically hypertensive rat, the SHR (n = 6) and the New Zealand genetically hypertensive rat (GH, n = 5), with their normotensive control strains, the Wistar Kyoto (WKY, n = 6) and Wistar (n = 5), respectively. Both hypertensive rat strains showed increased terminal lever-pressing rates on a multiple fixed-interval schedule (FI-EXT) compared to controls. In order to investigate the association of hypertension and the behavioural characteristics in question, an F-2 hybrid strain was obtained by cross-breeding GH and Wistar rats. When these F-2 hybrids (n = 33) were tested on the FI-EXT schedule, terminal lever-pressing rate was not correlated with blood pressure. The independent segregation of these phenotypical characteristics in the hybrids suggests independent genetic control. By contrast, other behavioural characteristics, including high lever-pressing rates during the extinction component and a tendency to emit responses in bursts, did cosegregate with terminal lever-pressing rates. Taken together, these findings suggest that the genetic loci for high blood pressure and responding on the FI-EXT schedule in these two unrelated rat strains are close but distinct.