nach oben

Erschienen in:

01.03.2016 | Original Article

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

verfasst von: Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner, Chris Mühlhausen, Angels Garcia-Cazorla, Florian Gleich, Gisela Haege, Peter Burgard, on behalf of the E-IMD consortium

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2016

Einloggen, um Zugang zu erhalten

Abstract

Background

Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected.

Methods

Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data.

Results

Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31 % of OAD, 43 % of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95 %CI: 1.39–27.99), but HRQoL was independent from both variables.

Conclusions

Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients’ HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.

Nur mit Berechtigung zugänglich

Albrecht GL, Devlieger PJ (1999) The disability paradox: high quality of life against all odds. Soc Sci Med 48:977–988CrossRefPubMed

American Psychiatric Association (2000) Diagnostic and statistical manual of mental disorders 4th edn. Diagnostic and Statistical Manual of Mental Disorders

Angermeyer MC, Kilian R, Matschinger H (2000) WHOQOL-100 und WHOQOL-BREF: Handbuch für die deutschsprachige Version der WHO-Instrumente zur Erfassung von Lebensqualität: Hogrefe & Huber

Barlow JH, Ellard DR (2006) The psychosocial well-being of children with chronic disease, their parents and siblings: an overview of the research evidence base. Child Care Health Dev 32:19–31CrossRefPubMed

Baumgartner MR, Horster F, Dionisi-Vici C et al (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 9:130PubMedCentralCrossRefPubMed

Bennett S, Sharan R, Coughtrey A, Walker S, Heyman I (2015) Psychological interventions for mental health disorders in children with chronic physical illness: a systematic review. Arch Dis Child 100:308–316CrossRef

Canning EH (1994) Mental disorders in chronically ill children: case identification and parent–child discrepancy. Psychosom Med 56:104–108CrossRefPubMed

Cederbaum JA, LeMons C, Rosen M, Ahrens M, Vonachen S, Cederbaum SD (2001) Psychosocial issues and coping strategies in families affected by urea cycle disorders. J Pediatr 138:S72–80CrossRefPubMed

Cottrell D (2015) Prevention and treatment of psychiatric disorders in children with chronic physical illness. Arch Dis Child 100:303–304CrossRef

de Ridder D, Geenen R, Kuijer R, van Middendorp H (2008) Psychological adjustment to chronic disease. Lancet 372:246–255CrossRefPubMed

Dykens E (1998) Maladaptive behavior and dual diagnosis in persons with genetic syndromes. In: Hodapp Robert M, Edward Z (eds) Burack Jacob A. Cambridge University Press, Handbook of mental retardation and development New York, pp 542–562

Esser G (1989) Mannheimer Elterninterview: MEI; strukturiertes Interview zur Erfassung von kinderpsychiatrischen Auffälligkeiten. Weinheim, Beltz

Fletcher RJ, Havercamp SM, Ruedrich SL et al (2009) Clinical usefulness of the diagnostic manual-intellectual disability for mental disorders in persons with intellectual disability: results from a brief field survey. J Clin Psychiatry 70:967–974CrossRef

Gramer G, Haege G, Glahn EM, Hoffmann GF, Lindner M, Burgard P (2014) Living with an inborn error of metabolism detected by newborn screening-parents’ perspectives on child development and impact on family life. J Inherit Metab Dis 37:189–195CrossRefPubMed

Gropman AL, Summar M, Leonard JV (2007) Neurological implications of urea cycle disorders. J Inherit Metab Dis 30:865–879PubMedCentralCrossRefPubMed

Grunert SC, Wendel U, Lindner M et al (2012) Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis 7:9PubMedCentralCrossRef

Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML (2004) Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 55:80–86CrossRefPubMed

Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752CrossRefPubMed

Holman H, Lorig K (2000) Patients as partners in managing chronic disease. Partnership is a prerequisite for effective and efficient health care. BMJ 320:526–527PubMedCentralCrossRefPubMed

Horster F, Baumgartner MR, Viardot C et al (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62:225–230CrossRefPubMed

Hyman SL, Porter CA, Page TJ, Iwata BA, Kissel R, Batshaw ML (1987) Behavior management of feeding disturbances in urea cycle and organic acid disorders. J Pediatr 111:558–562CrossRefPubMed

Kolker S, Garbade SF, Boy N et al (2007) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 62:357–363CrossRefPubMed

Kolker S, Cazorla AG, Valayannopoulos V, et al (2015a) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis Apr 15 [Epub ahead of print]

Kolker S, Dobbelaere D, Haberle J, et al (2015b) Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep doi: 10.1007/8904_2015_408

Kolker S, Valayannopoulos V, Burlina AB, et al (2015c) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis Apr 15 [Epub ahead of print]

Krivitzky L, Babikian T, Lee HS, Thomas NH, Burk-Paull KL, Batshaw ML (2009) Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatr Res 66:96–101PubMedCentralCrossRefPubMed

Kunz JH, Greenley RN, Howard M (2011) Maternal, paternal, and family health-related quality of life in the context of pediatric inflammatory bowel disease. Qual Life Res 20:1197–1204CrossRefPubMed

Kupfer DJ, Kuhl EA, Wulsin L (2013) Psychiatry’s integration with medicine: the role of DSM-5. Annu Rev Med 64:385–392CrossRefPubMed

Leek JT, Peng RD (2015) Statistics. What is the question? Science 347:1314–1315CrossRefPubMed

Miller JJ 3rd (1993) Psychosocial factors related to rheumatic diseases in childhood. J Rheumatol Suppl 38:1–11

Msall M, Monahan PS, Chapanis N, Batshaw ML (1988) Cognitive development in children with inborn errors of urea synthesis. Acta Paediatr Jpn 30:435–441CrossRefPubMed

Pless IB, Nolan T (1991) Revision, replication and neglect--research on maladjustment in chronic illness. J Child Psychol Psychiatry 32:347–365CrossRef

Rutter M, Cox A (1981) Psychiatric interviewing techniques: I. Methods and measures. Br J Psychiatry 138:273–282CrossRefPubMed

Serrano M, Martins C, Perez-Duenas B et al (2010) Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol 25:352–358CrossRefPubMed

Sprangers MA, Schwartz CE (1999) Integrating response shift into health-related quality of life research: a theoretical model. Soc Sci Med 48:1507–1515CrossRefPubMed

Stein RE (2015) Are we on the right track? Examining the role of developmental behavioral pediatrics. Pediatrics 135:589–591CrossRefPubMed

Ubel PA, Loewenstein G, Schwarz N, Smith D (2005) Misimagining the unimaginable: the disability paradox and health care decision making. Health Psychol 24:S57–62CrossRefPubMed

Upton P, Lawford J, Eiser C (2008) Parent–child agreement across child health-related quality of life instruments: a review of the literature. Qual Life Res 17:895–913CrossRefPubMed

Varni JW, Seid M, Rode CA (1999) The PedsQL: measurement model for the pediatric quality of life inventory. Med Care 37:126–139CrossRefPubMed

Varni JW, Limbers C, Burwinkle TM (2007) Literature review: health-related quality of life measurement in pediatric oncology: hearing the voices of the children. J Pediatr Psychol 32:1151–1163CrossRefPubMed

Walterfang M, Bonnot O, Mocellin R, Velakoulis D (2013) The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis 36:687–702CrossRefPubMed

Waters E (2000) Assessing quality of life. In Moyer Virginia A, Elliot Elizabeth E, Davis Robert L et al eds. Evidence based pediatrics and child health London: BMJ Books, 79–90. 10

World Health Organization (2004a) The World Health Organization Quality of Life (WHOQOL)-BREF: World Health Organization

World Health Organization (2004b) The International statistical classification of diseases and health related problems ICD-10. In Editor Book The International statistical classification of diseases and health related problems ICD-10

Zeltner NA, Huemer M, Baumgartner MR, Landolt MA (2014) Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism inverted question mark a systematic review. Orphanet J Rare Dis 9:159PubMedCentralCrossRefPubMed

Titel: Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
verfasst von: Dagmar Jamiolkowski
Stefan Kölker
Esther M. Glahn
Ivo Barić
Jiri Zeman
Matthias R. Baumgartner
Chris Mühlhausen
Angels Garcia-Cazorla
Florian Gleich
Gisela Haege
Peter Burgard
on behalf of the E-IMD consortium
Publikationsdatum: 01.03.2016
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 2/2016
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-015-9887-8

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders