An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

Autor/inn/en	Mazur, Artur; Jarochowicz, Sabina; Oltarzewski, Mariusz; Sykut-Cegielska, Jolanta; Gradowska, Wanda; Januszek-Trzciakowska, Aleksandra; O'Malley, Grace; Kwolek, Andrzej
Titel	An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland
Quelle	In: Journal of Applied Research in Intellectual Disabilities, 24 (2011) 5, S.482-488 (7 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1360-2322
DOI	10.1111/j.1468-3148.2011.00628.x
Schlagwörter	Mental Retardation; Seizures; Quality of Life; Patients; Nursing Homes; Health Facilities; Foreign Countries; Chemistry; Investigations; Adults; Symptoms (Individual Disorders); Data Analysis; Poland + Suchen Sie Ihr Suchwort? Geistige Behinderung; Anfallsleiden; Lebensqualität; Patient; Sonderheim; Gesundheitszentrum; Ausland; Chemie; Untersuchung; Psychiatrische Symptomatik; Auswertung; Polen
Abstract	Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening and who resided in Social Welfare Homes in south-eastern Poland. Participants were aged between 27 and 89 years (mean 51 years). The screening for PKU was performed by blood test using tandem mass spectrometry method (MS/MS) and analysis of organic acids in urine. Among all new identified untreated individuals, neurological symptoms were recorded and neuropsychiatric disturbances were assessed with The Neuropsychiatric Inventory-Nursing Home Version (NPI-NH). Results: We found 10 previously undiagnosed and one previously diagnosed but untreated individuals with PKU (four women and seven men). The most commonly exhibited neurological manifestations included the following: profound speech disturbances, balance disturbances, muscular hypertonicity, muscular tremors and seizures. The most frequent behaviours included the following: aberrant/troublesome motor behaviour, agitation/aggression and euphoria/elation. Conclusion: Data from the present study indicate that future treatment of these individuals should combine a dietary intervention with individual behavioural therapy and neurorehabilitation to improve general health and quality of life. (As Provided).
Anmerkungen	Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA/
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10