ABSTRACT
The task of genetic counselling of people at risk for Huntington's disease might be facilitated by increased knowledge of relevant population characteristics. The aim of the present study was to clarify select socioeconomic characteristics, knowledge concerning the disease, and attitudes towards predictive tests of people at 50% risk of inheriting Huntington's disease in the state of Victoria. A random sample of subjects was drawn from the Huntington's disease register and 50 questionnaires were analysed. Respondents completed three questionnaires which covered their socioeconomic characteristics, the extent and accuracy of their knowledge about the genetic, progress, and treatment of Huntington's disease, and their attitude and acceptance of predictive tests as well as their intentions about future reproduction. A very positive attitude was found to be held by the respondents towards a predictive test if it was safe, reliable, and non-invasive. Resultant problems which would arise, should a reliable test be found, are discussed. The respondent's knowledge concerning the disease was found to be adequate generally.
Subject(s)
Attitude to Health , Huntington Disease/genetics , Adult , Age Factors , Australia , Female , Genetic Counseling , Humans , Male , Risk , Socioeconomic Factors , Surveys and QuestionnairesSubject(s)
Huntington Disease/genetics , Medical Records, Problem-Oriented , Medical Records , Registries , Australia , Confidentiality , HumansABSTRACT
The phenotypic frequencies of 24 polymorphic blood markers in a sample of patients with Huntington's disease (HD) have been compared with those in a sample of healthy Australian volunteers in an effort to detect any associations between HD and the markers concerned. The Rh factor, c, has a significantly lower frequency in the HD sample while ACP1c and Gm1,2 have a significantly higher frequency. The linkage relations of the HD locus have been analysed with respect to the various marker loci concerned. This analysis involved the development of methods to overcome the general lack of genetic data concerning the affected parent and the possibility that presently unaffected offspring may be asymptomatic carriers of the HD gene. The results suggest that close linkage between the HD locus and Fy, ADA, ACP1, Gc or Bg is highly unlikely. They also suggest a low probability of close linkage to ABO, Rh, Jk, Lu, AK1, PGM1 or C3. Positive linkage scores were obtained for P, Hp and Gm. The results are inconclusive for MNSs, K, Le, Se, GPT and Inv. The available data were uninformative for linkage between the HD locus and Co, 6-PGD or E1.
Subject(s)
Genetic Linkage , Huntington Disease/genetics , Polymorphism, Genetic , Australia , Blood Group Antigens , Humans , Mathematics , Phenotype , RiskABSTRACT
The historical background of Huntington's disease in Australia is briefly described, together with the development of professional and self-help groups. An existing Huntington's disease register in Victoria is described in detail. A case is made for the need for the establishment of an Australia-wide register of Huntington's disease. Certain ethical issues and safeguards necessary to such a register are discussed.
Subject(s)
Huntington Disease/epidemiology , Registries , Australia , Confidentiality , Ethics, Medical , Genetic Counseling , HumansABSTRACT
In an attempt to relate the age at onset of Huntington's disease to parental factors, the effects of parental onset-age (Po) and the age of the transmitting parent at the birth of a subsequently affected child (Pc) have been examined in a sample of cases ascertained from Victorian kindreds. There was a significant positive linear regression of onset-age on the variable Po-Pc; the result was independent of the sex of affected parent or child. It is suggested that the pathogenetic process is activated in individuals at a fixed time before their genetically determined onset-ages and need not commence at birth. Somatic gene mutations accumulating with age may interact with modifiers activated at initiation of pathogenesis and favour the transmission of genes determining early onset. An important conclusion for genetic counselling is the desirability of parents at risk who intend to have children to plan their families early in life so that the illness will tend to appear in late adulthood in their affected children. The regression equation may also be applied to estimate the risk of inheritance of the disorder and, by taking interfamilial variation into account, appears to have an advantage over the esisting method based on the distribution of onsettages.
Subject(s)
Huntington Disease/genetics , Adult , Age Factors , Environment , Female , Genes , Genetic Counseling , Genetic Variation , Humans , Huntington Disease/diagnosis , Male , Middle Aged , Pedigree , Prognosis , Risk , Sex FactorsSubject(s)
Genetics, Population , Huntington Disease/genetics , Sex Ratio , Adolescent , Adult , Age Factors , Australia , Female , Humans , Infant, Newborn , Male , Maternal Age , Middle Aged , Pennsylvania , Time FactorsSubject(s)
Huntington Disease , Adolescent , Adult , Attitude to Health , Australia , Contraception , Counseling , Eugenics , Family , Female , Humans , Huntington Disease/diagnosis , Huntington Disease/epidemiology , Huntington Disease/therapy , Interpersonal Relations , Male , Middle Aged , Social Behavior Disorders , Social Problems , SocietiesSubject(s)
Geriatrics , Hospitalization , Hospitals, Psychiatric , Mental Disorders/therapy , Aged , Depression/diagnosis , Female , Humans , Interpersonal Relations , Length of Stay , Male , Mental Disorders/diagnosis , Patient Readmission , Prognosis , Sex Factors , Social Adjustment , Social Behavior , Social Work, PsychiatricABSTRACT
40 patients with senile dementia, 40 with arteriosclerotic dementia, and 40 people attending an elderly citizens' club have been compared with respect to certain social and personal data. The senile dementia group showed significant tendencies to positive family history, unusual personality characteristics and greater duration of widowhood.
