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Biomedical subjects

E P Parsons

Publications and source records attributed to E P Parsons.

8 recordsLinked to original sources
PubMed2003

Implications of carrier identification in newborn screening for cystic fibrosis.

OBJECTIVE: To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening. DESIGN: Prospective psychosocial assessment. SETTING: Primary care. RESPONDENTS STUDY: (a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10). CONTROL: group of mothers from the general population (n = 82). INTERVENTIONS: Questionnaires and semistructured interviews. MAIN OUTCOME MEASURES: Attitude to screening, assessments of the mother/baby relationship, anxiety, wellbeing. RESULTS: All families were in favour of screening, with no evidence that the mother/baby relationship, anxiety or wellbeing had been adversely affected. Parents, however, did identify problems in terms of the service delivery protocol and genetic counselling practice. CONCLUSION: Six months after disclosure, carrier identification was not perceived by parents to be problematic.

Anxiety↗
PubMed2002

Newborn screening for Duchenne muscular dystrophy: a psychosocial study.

OBJECTIVE: To evaluate the psychosocial implications of newborn screening for Duchenne muscular dystrophy. DESIGN: Prospective psychosocial assessment. SETTING: Primary care. RESPONDENTS STUDY: (a) families of an affected boy identified by screening (n = 20); (b) families of a boy with a transient screening abnormality (n = 18). CONTROL: (a) families of a boy with a later clinical diagnosis (n = 16); (b) random sample of mothers of boys aged 6-9 months (n = 43). INTERVENTIONS: Questionnaires and semistructured interviews. MAIN OUTCOME MEASURES: Attitudes to newborn screening and impact of screening on mother-baby relationship, anxiety/wellbeing, and reproductive patterning within families of an affected boy. RESULTS: Most families of an affected boy were in favour of newborn screening on the grounds of reproductive choice and time to prepare emotionally and practically. There was no evidence of any long term disruption to the mother-baby relationship. Anxiety levels for the screened group were slightly above threshold but returned to normal during the period of the study. There was no evidence, from anxiety or wellbeing scores, that the transient group had suffered any disadvantage. Although the profile of the screened and later clinically diagnosed cohorts was similar after diagnosis, when boys from the screened cohort were 4 years old and more socially aware, their profile was more positive. There was evidence that reproductive patterning had been modified, and four fetuses carrying a mutation causing Duchenne muscular dystrophy were terminated. CONCLUSION: A case can be made for newborn screening provided that the test is optional, a rigorous protocol for service delivery is used, and an infrastructure providing continuing support is in place.

Anxiety↗
PubMed1993

Experience with screening newborns for Duchenne muscular dystrophy in Wales.

OBJECTIVES: To assess the acceptability of screening newborn boys for Duchenne muscular dystrophy. DESIGN: Screening is offered on the basis of informed consent in response to an information sheet entitled "A new test for baby boys--Do you want it?" The programme includes a prospective long term evaluation of family responses to early diagnosis and a comparison of their experiences and perceptions with those families who have undergone the later traditional clinical diagnosis. SETTING: All maternity units throughout Wales. Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism. SUBJECTS: Those families whose son had a positive screening test. MAIN OUTCOME MEASURES: Creatine kinase activity. Venous blood test to confirm positive result. Molecular genetic mutation analysis. Muscle biopsy and dystrophin analysis. Qualitative measure of satisfaction among affected families. RESULTS: 34,219 Boys have been screened and nine affected families have been identified. Eight families were very positive about the programme. Three chose not to complete the diagnostic process. CONCLUSION: The programme should continue to permit a full evaluation of the issues involved and should serve as a model for other initiatives within the community for genetic disease.

Creatine Kinase↗
PubMed1993

Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy.

This paper reports a study of 48 women (16 mothers and 32 daughters representing 28 families) who had lived with Duchenne muscular dystrophy (DMD) in their family. It looks at the way the women talked about their carrier risks during the course of an unstructured interview. It points to a significant difference between lay and health professionals' perspectives, in particular the thresholds they used to distinguish between high and low risk. A number of women, when quoting their risk in a mathematical form, confused their reproductive risks with their carrier risk, another indication of differential perceptions between the women and health professionals. There was evidence that several of the women did not retain their risk in a mathematical form but had translated it into a descriptive category which resolved their risk into greater certainty.

Adult↗