Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 448-455

  Rigter, Tessel ^a,b   Weinreich, Stephanie S ^a,b   van El, Carla G ^a   de Vries, Juna M ^b   van Gelder, Carin M ^b   Güngör, Deniz ^b   Reuser, Arnold J J ^b   Hagemans, Marloes L C ^b   Cornel, Martina C ^a,c   Van der Ploeg, Ans T ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Centre for Society and the Life Sciences   (Netherlands)

Author keywords

Cross sectional study; Glycogen storage disease type II; Health status; Neonatal screening

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ASSISTED VENTILATION; CHILD; CROSS-SECTIONAL STUDY; DATA ANALYSIS; DISABILITY; EARLY DIAGNOSIS; FUNCTIONAL STATUS; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH STATUS; HEARING IMPAIRMENT; HEART FUNCTION; HUMAN; INFANT; INTERNATIONAL CLASSIFICATION OF FUNCTIONING, DISABILITY AND HEALTH; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MUSCLE STRENGTH; MUSCLE WEAKNESS; NEWBORN; NEWBORN SCREENING; NOSE FEEDING; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RESPIRATORY FAILURE; SCHOOL CHILD; WALKING AID;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; EARLY DIAGNOSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HEALTH STATUS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOTOR ACTIVITY; MUSCLE WEAKNESS; NEONATAL SCREENING; QUESTIONNAIRES; TIME FACTORS;

EID: 84867896871     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.017     Document Type: Article

References (37)

1. Ausems M.G., Verbiest J., Hermans M.P., Kroos M.A., Beemer F.A., Wokke J.H., Sandkuijl L.A., Reuser A.J., van der Ploeg A.T. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur. J. Hum. Genet. 1999, 7:713-716.
2. van der Ploeg A.T., Reuser A.J. Pompe's disease. Lancet 2008, 372:1342-1353.
3. van den Hout H.M., Hop W., van Diggelen O.P., Smeitink J.A., Smit G.P., Poll-The B.T., Bakker H.D., Loonen M.C., de Klerk J.B., Reuser A.J., van der Ploeg A.T. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003, 112:332-340.
4. Hagemans M.L., Winkel L.P., Van Doorn P.A., Hop W.J., Loonen M.C., Reuser A.J., van der Ploeg A.T. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005, 128:671-677.
5. Kishnani P.S., Corzo D., Leslie N.D., Gruskin D., van der P.A., Clancy J.P., Parini R., Morin G., Beck M., Bauer M.S., Jokic M., Tsai C.E., Tsai B.W., Morgan C., O'Meara T., Richards S., Tsao E.C., Mandel H. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr. Res. 2009, 66:329-335.
6. Kishnani P.S., Corzo D., Nicolino M., Byrne B., Mandel H., Hwu W.L., Leslie N., Levine J., Spencer C., McDonald M., Li J., Dumontier J., Halberthal M., Chien Y.H., Hopkin R., Vijayaraghavan S., Gruskin D., Bartholomew D., van der P.A., Clancy J.P., Parini R., Morin G., Beck M., De la Gastine G.S., Jokic M., Thurberg B., Richards S., Bali D., Davison M., Worden M.A., Chen Y.T., Wraith J.E. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68:99-109.
7. van der Ploeg A.T., Clemens P.R., Corzo D., Escolar D.M., Florence J., Groeneveld G.J., Herson S., Kishnani P.S., Laforet P., Lake S.L., Lange D.J., Leshner R.T., Mayhew J.E., Morgan C., Nozaki K., Park D.J., Pestronk A., Rosenbloom B., Skrinar A., van Capelle C.I., van der Beek N.A., Wasserstein M., Zivkovic S.A. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N. Engl. J. Med. 2010, 362:1396-1406.
8. van den Hout J.M., Kamphoven J.H., Winkel L.P., Arts W.F., de Klerk J.B., Loonen M.C., Vulto A.G., Cromme-Dijkhuis A., Weisglas-Kuperus N., Hop W., van Hirtum H., van Diggelen O.P., Boer M., Kroos M.A., Van Doorn P.A., van der V., Sibbles B., Van Corven E.J., Brakenhoff J.P., van Hove J., Smeitink J.A., De J.G., Reuser A.J., van der Ploeg A.T. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004, 113:e448-e457.
9. Nicolino M., Byrne B., Wraith J.E., Leslie N., Mandel H., Freyer D.R., Arnold G.L., Pivnick E.K., Ottinger C.J., Robinson P.H., Loo J.C., Smitka M., Jardine P., Tato L., Chabrol B., McCandless S., Kimura S., Mehta L., Bali D., Skrinar A., Morgan C., Rangachari L., Corzo D., Kishnani P.S. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet. Med. 2009, 11:210-219.
10. Winkel L.P., Hagemans M.L., Van Doorn P.A., Loonen M.C., Hop W.J., Reuser A.J., van der Ploeg A.T. The natural course of non-classic Pompe's disease; a review of 225 published cases. J. Neurol. 2005, 252:875-884.
11. Chien Y.H., Chiang S.C., Zhang X.K., Keutzer J., Lee N.C., Huang A.C., Chen C.A., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008, 122:e39-e45.
12. Chien Y.H., Lee N.C., Thurberg B.L., Chiang S.C., Zhang X.K., Keutzer J., Huang A.C., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009, 124:e1116-e1125.
13. Chen L.R., Chen C.A., Chiu S.N., Chien Y.H., Lee N.C., Lin M.T., Hwu W.L., Wang J.K., Wu M.H. Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease. J. Pediatr. 2009, 155:271-275.
14. Chien Y.H., Lee N.C., Huang H.J., Thurberg B.L., Tsai F.J., Hwu W.L. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J. Pediatr. 2011, 158:1023-1027.
15. Haddow J.E., Palomaki G.E. ACCE: a model process for evaluating data on emerging genetic tests. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease 2003, 217-233. Oxford University Press. M. Khoury, J. Little, W. Burke (Eds.).
16. Kwon J.M., Steiner R.D. "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology 2011, 77:522-523.
17. Laloui K., Wary C., Carlier R.Y., Hogrel J.Y., Caillaud C., Laforet P. Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?. Neurology 2011, 77:594-595.
18. Marsden D., Levy H. Newborn screening of lysosomal storage disorders. Clin. Chem. 2010, 56:1071-1079.
19. Mechtler T.P., Stary S., Metz T.F., De Jesus V.R., Greber-Platzer S., Pollak A., Herkner K.R., Streubel B., Kasper D.C. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012, 379:335-341.
20. Winkel L.P., van den Hout J.M., Kamphoven J.H., Disseldorp J.A., Remmerswaal M., Arts W.F., Loonen M.C., Vulto A.G., Van Doorn P.A., De J.G., Hop W., Smit G.P., Shapira S.K., Boer M.A., van Diggelen O.P., Reuser A.J., van der Ploeg A.T. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann. Neurol. 2004, 55:495-502.
21. van Capelle C.I., Goedegebure A., Homans N.C., Hoeve H.L., Reuser A.J., van der Ploeg A.T. Hearing loss in Pompe disease revisited: results from a study of 24 children. J. Inherit. Metab. Dis. 2010, 33:597-602.
22. Hagemans M.L., Janssens A.C., Winkel L.P., Sieradzan K.A., Reuser A.J., Van Doorn P.A., van der Ploeg A.T. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004, 63:1688-1692.
23. World Health Organisation International Classification of Functioning, Disability and Health 2001, WHO, Geneva.
24. Poutanen T., Jokinen E. Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography. Pediatr. Cardiol. 2007, 28:201-207.
25. L.E.M. van den Berg, M.R. Drost, G. Schaart, J. de Laat, P.A. Van Doorn, A.T. van der Ploeg, A.J. Reuser, Muscle fiber type distribution and muscle fiber type specific damage in Pompe disease (unpublished results).
26. Medical Research Council: Nerve Injuries Research Committee. His Majesty's Stationery Office, Aids to the Investigation of Peripheral Nerve Injuries, 1942.
27. van der Ploeg R.J., Fidler V., Oosterhuis H.J. Hand-held myometry: reference values. J. Neurol. Neurosurg. Psychiatry 1991, 54:244-247.
28. Andrews A.W., Thomas M.W., Bohannon R.W. Normative values for isometric muscle force measurements obtained with hand-held dynamometers. Phys. Ther. 1996, 76:248-259.
29. Beenakker E.A., van der Hoeven J.H., Fock J.M., Maurits N.M. Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry. Neuromuscul. Disord. 2001, 11:441-446.
30. Miller M.R., Hankinson J., Brusasco V., Burgos F., Casaburi R., Coates A., Crapo R., Enright P., van der Grinten C.P., Gustafsson P., Jensen R., Johnson D.C., Macintyre N., McKay R., Navajas D., Pedersen O.F., Pellegrino R., Viegi G., Wanger J. Standardisation of Spirometry. Eur. Respir. J. 2005, 26:319-338.
31. Quanjer P.H., Tammeling G.J., Cotes J.E., Pedersen O.F., Peslin R., Yernault J.C. Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society. Eur. Respir. J. Suppl. 1993, 16:5-40.
32. Piper M.C., Pinnell L.E., Darrah J., Maguire T., Byrne P.J. Construction and validation of the Alberta Infant Motor Scale (AIMS). Can. J. Public Health 1992, 83(Suppl. 2):S46-S50.
33. van Capelle C.I., van der Beek N.A., de Vries J.M., Van Doorn P.A., Duivenvoorden H.J., Leshner R.T., Hagemans M.L., van der Ploeg A.T. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J. Inherit. Metab. Dis. 2012, 35:317-323.
34. Hagemans M.L., Laforet P., Hop W.J., Merkies I.S., Van Doorn P.A., Reuser A.J., van der Ploeg A.T. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul. Disord. 2007, 17:537-543.
35. Winkel L.P., Kamphoven J.H., van den Hout H.J., Severijnen L.A., Van Doorn P.A., Reuser A.J., van der Ploeg A.T. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003, 27:743-751.
36. Timmermans S., Buchbinder M. Patients-in-waiting: living between sickness and health in the genomics era. J. Health Soc. Behav. 2010, 51:408-423.
37. Weinreich S.S., Rigter T., van El C.G., Dondorp W.J., Kostense P.J., van der Ploeg A.T., Reuser A.J., Cornel M.C., Hagemans M.L. Public support for neonatal screening for Pompe disease, a broad-phenotype condition. Orphanet J. Rare Dis. 2012, 7:15.