Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.

Hdl Handle:
http://hdl.handle.net/10147/188310
Title:
Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.
Authors:
Mazur, Artur; Jarochowicz, Sabina; Ołtarzewski, Mariusz; Sykut-Cegielska, Jolanta; Kwolek, Andrzej; O'Malley, Grace
Affiliation:
Medical Faculty, University of Rzeszów, Poland. drmazur@poczta.onet.pl
Citation:
Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria. 2009, 56 (4):613-8 Acta Biochim. Pol.
Journal:
Acta biochimica Polonica
Issue Date:
2009
URI:
http://hdl.handle.net/10147/188310
PubMed ID:
19997658
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/19997658
Abstract:
The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.
Item Type:
Article In Press
Language:
en
MeSH:
Accidental Falls; Activities of Daily Living; Adult; Female; Gait; Humans; Male; Middle Aged; Phenylketonurias; Poland; Postural Balance; Risk Assessment
ISSN:
1734-154X

Full metadata record

DC FieldValue Language
dc.contributor.authorMazur, Arturen
dc.contributor.authorJarochowicz, Sabinaen
dc.contributor.authorOłtarzewski, Mariuszen
dc.contributor.authorSykut-Cegielska, Jolantaen
dc.contributor.authorKwolek, Andrzejen
dc.contributor.authorO'Malley, Graceen
dc.date.accessioned2011-11-01T11:56:49Z-
dc.date.available2011-11-01T11:56:49Z-
dc.date.issued2009-
dc.identifier.citationMeasurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria. 2009, 56 (4):613-8 Acta Biochim. Pol.en
dc.identifier.issn1734-154X-
dc.identifier.pmid19997658-
dc.identifier.urihttp://hdl.handle.net/10147/188310-
dc.description.abstractThe aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/19997658en
dc.subject.meshAccidental Falls-
dc.subject.meshActivities of Daily Living-
dc.subject.meshAdult-
dc.subject.meshFemale-
dc.subject.meshGait-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshPhenylketonurias-
dc.subject.meshPoland-
dc.subject.meshPostural Balance-
dc.subject.meshRisk Assessment-
dc.titleMeasurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.en
dc.typeArticle In Pressen
dc.contributor.departmentMedical Faculty, University of Rzeszów, Poland. drmazur@poczta.onet.plen
dc.identifier.journalActa biochimica Polonicaen
dc.description.provinceLeinster-

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