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D Craufurd

Publications and source records attributed to D Craufurd.

33 records · Page 2Linked to original sources
PubMed1996

Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice.

BACKGROUND: In 1989, the gene for cystic fibrosis was cloned and it became possible to detect carriers of the gene among the general population, including pregnant women. AIM: The aim of the pilot study was to assess the acceptability of integrating cystic fibrosis carrier testing into antenatal care by general practitioners at the first booking appointment. METHOD: Between 1 September 1991 and 31 August 1992, inclusive, all patients receiving routine antenatal care in a two-partner training practice in south Manchester were offered carrier testing for cystic fibrosis using a computer protocol for antenatal care developed by the practice. A questionnaire including a Spielberger state-trait anxiety inventory was sent to patients 2 weeks after they received the results of their carrier test, and interviews with the patients in their home were carried out 4 weeks and one year after they received the result. RESULTS: All but one patient (75 out of 76) booking before 14 weeks of pregnancy accepted the offer of cystic fibrosis carrier testing, and 96% (72 out of 75) felt that they had made the right decision and that they had enough time for discussion with their general practitioner before testing. CONCLUSIONS: Cystic fibrosis carrier testing can be successfully integrated into the antenatal booking appointment in general practice and is acceptable to patients. This is a model for other genetic screening opportunities resulting from advances in medical genetics.

Cystic Fibrosis↗
PubMed1995

Frontotemporal dementia and Alzheimer's disease: retrospective differentiation using information from informants.

The study examined the feasibility of differentiating frontotemporal dementia from Alzheimer's disease on the basis of retrospective historical information obtained from relatives of patients. A structured questionnaire was devised of patients' symptoms, with emphasis on those cognitive and neuropsychiatric features found in earlier prospective clinical studies to distinguish the two conditions. The questionnaire was given to close relatives of deceased patients in whom the diagnosis of non-Alzheimer's frontotemporal degeneration of Alzheimer's disease had been verified at necropsy. The interviewer had no previous contact or knowledge of those patients, nor clinical experience of patients with frontotemporal dementia. The questionnaire elicited a distinct profile of responses for the two diagnostic groups with emphasis on early personality change, unconcern, and socially inappropriate behaviour in frontotemporal dementia and disturbance in memory and topographical orientation prominent in patients with Alzheimer's disease. A scoring system separated out individual patients with frontotemporal dementia from those with Alzheimer's disease. It is concluded that it is possible to obtain useful information about the precise pattern of dementia from informants even many years after the patient's death. The questionnaire provides the foundation of a diagnostic instrument for use in family history studies of dementia.

Adult↗
PubMed1994

Schizophrenia in the Afro-Caribbean community.

Previous studies have shown high rates of schizophrenia among the Afro-Caribbean population in Britain. In order to assess the role of genetic factors in the aetiology of this phenomenon, we have used a standardised family history method (FHRDC) to compare lifetime morbidity risks for first-degree relatives of Afro-Caribbean and white patients with RDC schizophrenia admitted in Central Manchester between 1982 and 1988. Lifetime morbidity risk for parents of Afro-Caribbean subjects was 8.9%, and for parents of white patients 8.4%. For the siblings of black probands, however, the risk was 15.9%, as compared with 1.8% for white siblings (P < 0.05). Among siblings of UK-born Afro-Caribbean probands, morbid risk was even higher at 27.3% (P = 0.001). High rates among siblings of younger Afro-Caribbean patients are consistent with previous reports of a higher incidence in the UK-born. These observations suggest that schizophrenia among Afro-Caribbeans is no less familial than for the remainder of the population, but that the increased frequency of the disorder is due to environmental factors which are most common in the Afro-Caribbean community, and capable of precipitating schizophrenia in those who are genetically predisposed.

Adult↗
PubMed1993

Cystic fibrosis carrier testing in early pregnancy by general practitioners.

OBJECTIVE: To assess the feasibility of genetic counselling in general practice by using cystic fibrosis carrier screening at the booking appointment as an integral part of routine antenatal care and as a paradigm for the wider participation of general practitioners in medical genetics. DESIGN: Maternal testing (male partner tested only if woman screens positive) and couple testing for cystic fibrosis carrier status in the antenatal population attending one general practice and, later, in a further six (outreach) practices also. SETTING: Two partner urban training practice (pilot practice) in south Manchester, and six north west practices (two inner city, three urban, one rural dispensing). SUBJECTS: Total practice population of 50,000 (pilot practice plus six outreach practices) with an estimated 500-800 pregnancies per year. MAIN OUTCOME MEASURES: (a) Proportion of carriers of cystic fibrosis identified, counselled, and appropriately managed within the first trimester of pregnancy; (b) questionnaire and interview measures of patient satisfaction and stress. RESULTS: Eleven carriers of cystic fibrosis were detected including one carrier couple. This carrier couple, after extensive counselling, elected to have prenatal diagnosis by chorionic villus biopsy. The fetus was homozygous normal. CONCLUSIONS: General practitioners can successfully integrate genetic counselling and cystic fibrosis carrier screening into the first antenatal booking appointment. When a carrier couple is identified clinical geneticists can help with the discussion of reproductive options, and prenatal diagnosis by chorionic villus biopsy can be completed within the first trimester. The results suggest that general practitioners will have an increasingly important role in medical genetics, subject to continuing evaluation of patient acceptability and stress.

Anxiety↗
PubMed1993

Mutation size and age at onset in Huntington's disease.

The mutation responsible for Huntington's disease is a polymorphic (CAG)n repeat sequence which is expanded on affected chromosomes. The number of repeat units observed on 229 affected chromosomes varied from 27 to 102, while the control chromosomes showed a range of 7 to 34 repeats. There was a highly significant relationship between the size of the expanded region and age at onset, larger mutations being associated with earlier onset. This association was strongest in those with onset before 25 years of age but less clear cut with later onset, and is therefore unlikely to be useful for predicting age at onset in the context of presymptomatic testing.

Adult↗
PubMed1992

Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium.

OBJECTIVE: To evaluate the United Kingdom Huntington's disease presymptomatic testing programme. DESIGN: Postal questionnaire survey to collect data on all tests performed by clinical genetics centres between 1987 and 1990. SETTING: Genetic centres providing presymptomatic testing in the United Kingdom. SUBJECTS: 248 subjects at risk of Huntington's disease who had presymptomatic testing at their request. MAIN OUTCOME MEASURES: Sex, age, prior risk, and risk after testing. RESULTS: The risk of carrying the Huntington disease gene was reduced for 151 (61%) of the applicants and raised for 97 (39%). 158 (64%) of the subjects were female and 90 (36%) male. The median age at which the results were given was 32.5 years. CONCLUSIONS: The demand for testing was lower than expected and may have reached its peak in 1990. The excess of low risk results was not fully explained by the age effect. All the genetics centres concerned have agreed a common service protocol which requires extensive pre-test counselling and post-test follow up. The worth of the procedure remains to be decided. The availability of a large body of pooled data from all the United Kingdom testing centres, which individually are likely to have only a few results, will form a valuable resource for monitoring the long term psychosocial impact of testing.

Adolescent↗
PubMed1990

Localisation of a susceptibility locus for schizophrenia on chromosome 5.

"A considerable proportion of the variance in the liability to develop schizophrenia may be genetic, but segregation analysis, to establish a mode of transmission, has not produced a consistent result. One of these studies was carried out in Iceland and made use of the large family size and extensive genealogical information present in that country. Here we demonstrate genetic linkage of two DNA polymorphisms on the long arm of human chromosome 5 to schizophrenia in seven British and Icelandic families with multiple affected members. The results indicate the existence of a gene locus with a dominant schizophrenia-susceptibility allele. Inheritance of the allele in the families studied suggests that it may also predispose to psychiatric conditions such as schizophrenia spectrum disorders and a variety of other disorders. This report provides the first strong evidence for the involvement of a single gene in the causation of schizophrenia."

Chromosomes, Human, Pair 5↗
PubMed1989

Uptake of presymptomatic predictive testing for Huntington's disease.

Predictive testing by means of gene probes was offered to 110 adults at risk of Huntington's disease (HD). A further 91 individuals spontaneously sought predictive testing. Acceptance rates were highest (85.1%) amongst 47 individuals who spontaneously sought testing and were referred from outside the region, and lowest (15.5%) among the 110 invited to consider predictive testing. Many expressed an interest in predictive testing, then withdrew. Fetal exclusion testing was rarely requested, and then only by individuals who lacked the necessary pedigree structure for predictive testing for themselves.

Adult↗
PubMed1989

Molecular genetics in the National Health Service in Britain.

A recent report from the Departments of Health draws attention to the value of DNA diagnosis for inherited diseases and the need for planning these services in the National Health Service. There is great potential for preventive medicine, but a major immediate benefit is the newfound ability to exclude the carrier state in many people at risk and to protect fetuses from abortion when, as in most cases, they are shown to be normal by DNA tests. However, the widespread application of these new techniques requires prior evaluation and general acceptance. This will only be obtained after public debate, education of professionals and the population, and the establishment of adequate non-directive genetic counselling services. Some of the points to be considered in setting up molecular genetics laboratories are described.

Cystic Fibrosis↗
PubMedDate not supplied

Behavioral changes in Huntington Disease.

OBJECTIVES: This study aimed to gain a better understanding of behavioral abnormalities in Huntington disease (HD) and to develop a method for reliably assessing these changes. BACKGROUND: Behavioral changes are a central feature of HD and often cause considerable distress and difficulty to patients and their relatives. However, they have received little attention from research despite their prevalence and clinical significance. METHODS: One hundred thirty-four patients with HD were assessed using the Problem Behaviors Assessment for Huntington Disease (PBA-HD), an instrument for rating the presence, severity and frequency of behavioral abnormalities in HD. RESULTS: The findings confirm that behavioral problems are common among patients with HD. The most common symptoms were loss of energy and initiative, poor perseverance and quality of work, impaired judgment, poor self-care and emotional blunting. Affective symptoms such as depression, anxiety and irritability occurred in around half the patients studied. Psychotic symptoms (hallucinations and delusions) were rarely reported. Factor analysis distinguished three clusters of behavioral symptoms, which were interpreted respectively as reflecting Apathy, Depression and Irritability. The 'Apathy' factor was highly correlated with duration of illness, whereas no such relationship was observed for the 'Depression' and 'Irritability' factors. CONCLUSIONS: The results suggest that certain behavioral changes are fundamental to the progression of HD, whereas others have a more complex relationship to the disease process. The findings have implications for the choice of behavioral measures used to evaluate efficacy of therapeutic interventions.

Adult↗