Linked Life Data

15669675

Source:http://linkedlifedata.com/resource/pubmed/id/15669675

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2005-1-26
pubmed:abstractText
Galactosaemia (galactose-1-phosphate uridyltransferase deficiency) is a pan-ethnic autosomal recessive disorder of galactose metabolism, with an estimated prevalence of 1 in 40-50000. In this pilot study, we aimed to examine the impact of galactosaemia on patients' everyday emotions, schooling, work, friendships, communication, physical activities, self-esteem and body image. We interviewed all patients with galactosaemia who attended our clinic over 2002-2003, aged 6 years and above (n = 13, age range 6-23 years) and, when possible, their parents (n = 12). The questionnaire used was based on an adaptation of the Minneapolis-Manchester QOL survey and the Australian Child Health Questionnaire. Interpersonal problems, bullying and having a hard time getting along with others, excessive anger on a regular basis, sleeping problems and problems with academic achievement, particularly with mathematics, were common. Significant differences were found between patients' and parents' perceptions, with 7/13 patients nominating the dietary restrictions and 4/7 parents nominating long-term issues as the most distressing aspect of having galactosaemia. In addition, most patients felt they were treated differently from their siblings by their parents, yet all parents felt they treated their child with galactosaemia as their other children. We conclude that galactosaemia has a significant impact on the psychosocial aspects of patients' lives. Clinicians should be aware that parents and patients can have different perspectives of the impact of galactosaemia on quality of life.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
601-8
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
The impact of galactosaemia on quality of life--a pilot study.
pubmed:affiliation
Metabolic Service, Genetic Health Services and RCH, University of Melbourne, Melbourne, Australia.
pubmed:publicationType
Journal Article