Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Lindner, Martin ^a   Gramer, Gwendolyn ^a   Haege, Gisela ^a   Fang Hoffmann, Junmin ^a   Schwab, Karl O ^b   Tacke, Uta ^b   Trefz, Friedrich K ^c   Mengel, Eugen ^d   Wendel, Udo ^e   Leichsenring, Michael ^f   Burgard, Peter ^a   Hoffmann, Georg F ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c Children's Hospital   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f UNIVERSITY OF ULM   (Germany)

Author keywords

newborn screening; tandem mass spectrometry

Indexed keywords

AMINO ACID DISORDER; ARTICLE; CLINICAL EFFECTIVENESS; COHORT ANALYSIS; FATTY ACID OXIDATION OXIDATION DISORDER; GERMANY; HEALTH STATUS; HUMAN; INBORN ERROR OF METABOLISM; INTELLECT; MAJOR CLINICAL STUDY; METABOLIC DECOMPENSATION; METABOLIC DISORDER; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; ONSET AGE; ORGANIC ACID DISORDER; OUTCOME ASSESSMENT; OUTCOME VARIABLE; PROSPECTIVE STUDY; SYMPTOM; UREA CYCLE DISORDER; BIOMEDICAL TECHNOLOGY ASSESSMENT; FEMALE; MALE; METHODOLOGY; NEWBORN DISEASE; PHENYLKETONURIA; TANDEM MASS SPECTROMETRY;

FEMALE; GERMANY; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OUTCOME ASSESSMENT (HEALTH CARE); PHENYLKETONURIAS; TANDEM MASS SPECTROMETRY; TECHNOLOGY ASSESSMENT, BIOMEDICAL;

EID: 79959187550     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-44     Document Type: Article

References (30)

1. Developing a national collaborative study system for rare genetic diseases. MS Watson C Epstein RR Howell MC Jones BR Korf ER McCabe JL Simpson, Genet Med 2008 10 325 329 10.1097/GIM.0b013e31817b80fd 18496030 (Pubitemid 351770401)
2. Newborn screening: Toward a Uniform Screening Panel and System-Executive Summary. American College of Medical Genetics Newborn Screening Expert Group, Pediatrics 2006 117 296 S307 16735256
3. Gemeinsamer Bundesausschuss der rzte und Krankenkassen, Beschluss über eine nderung der Richtlinen des Bundesausschusses der rzte und Krankenkassen über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres (Kinder-Richtlinien) zur Einführung des erweiterten Neugeborenen-Screenings, 2005. (Accessed May 18, 2011, at http://www.g-ba.de/informationen/beschluesse/zur-richtlinie/15/#170 )
4. NHS Newborn Bloodspot Screening Programme. UK Newborn Screening Programme Centre, (Accessed May 18, 2011 at http://newbornbloodspot.screening.nhs.uk )
5. Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant. (Accessed May 18, 2011 at http://www.afdphe.fr)
6. Newborn screening in the Asia Pacific region. CD Padilla BL Therrell, J Inherit Metab Dis 2007 30 490 506 10.1007/s10545-007-0687-7 17643195 (Pubitemid 47377044)
7. JMG Wilson G Jungner, Principles and Practice of Screening for Disease Geneva, Switzerland: World Health Organization 1968 Public Health Papers, No. 34
8. The President's Council on Bioethics 2008. The Changing Moral Focus of Newborn Screening, An Ethical Analysis by The President's Council on Bioethics, Washington, DC, December 2008 Accessed May 18, 2011 at http://bioethics. georgetown.edu/pcbe/reports/newborn-screening
9. Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach. A Andermann I Blancquaert S Beauchamp I Costea, Public Health Genomics 2011 14 9 16 10.1159/000272898 20051674
10. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. A Andermann I Blancquaert S Beauchamp V Déry, Bull World Health Organ 2008 86 4 317 319 10.2471/BLT.07.050112 18438522 (Pubitemid 351521860)
11. Neue Screening-Richtlinien - Richtlinien zur Organisation und Durchführung des Neugeborenenscreenings auf angeborene Stoffwechselstö rungen und Endokrinopathien in Deutschland. E Harms A Roscher A Grüters U Heinrich O Genzel-Boroviczény R Rossi A Schulze S Zabransky, Monatsschr Kinderheilkd 2002 150 1424 1440 10.1007/s00112-002-0611-z
12. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. A Schulze M Lindner D Kohlmüller K Olgemöller E Mayatepek GF Hoffmann, Pediatrics 2003 111 1399 1406 10.1542/peds.111.6.1399 12777559 (Pubitemid 36682277)
13. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. B Wilcken M Haas P Joy V Wiley F Bowling K Carpenter J Christodoulou D Cowley C Ellaway J Fletcher EP Kirk B Lewis J McGill H Peters J Pitt E Ranieri J Yaplito-Lee A Boneh, Pediatrics 2009 124 241 248 10.1542/peds.2008-0586 19620191
14. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A >G identified by neonatal screening. U Nennstiel-Ratzel S Arenz EM Maier I Knerr J Baumkötter W Röschinger B Liebl HB Hadorn AA Roscher R von Kries, Mol Genet Metab 2005 85 2 157 159 10.1016/j.ymgme.2004.12.010 15896661 (Pubitemid 40724542)
15. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. B Wilcken M Haas P Joy V Wiley M Chaplin C Black J Fletcher J McGill A Boneh, Lancet 2007 369 37 42 10.1016/S0140-6736(07)60029-4 17208640 (Pubitemid 46027226)
16. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. RJ Pollitt JV Leonard, Arch Dis Child 1998 79 116 119 10.1136/adc.79.2.116 9797590 (Pubitemid 28384843)
17. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. TG Derks DJ Reijngoud HR Waterham WJ Gerver MP van den Berg PJ Sauer GP Smit, J Pediatr 2006 148 665 670 10.1016/j.jpeds.2005.12.028 16737882
18. Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. B Wilcken J Hammond M Silink, Arch Dis Child 1994 70 410 412 10.1136/adc.70.5.410 8017963 (Pubitemid 24183479)
19. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. S Kölker SF Garbade CR Greenberg JV Leonard JM Saudubray A Ribes HS Kalkanoglu AM Lund B Merinero M Wajner M Troncoso M Williams JH Walter J Campistol M Martí-Herrero M Caswill AB Burlina F Lagler EM Maier B Schwahn A Tokatli A Dursun T Coskun RA Chalmers DM Koeller J Zschocke E Christensen P Burgard GF Hoffmann, Pediatr Res 2006 59 840 847 10.1203/01.pdr.0000219387.79887.86 16641220 (Pubitemid 44297640)
20. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. S Kölker SF Garbade N Boy EM Maier T Meissner C Mühlhausen JB Hennermann T Lücke J Häberle J Baumkötter W Haller E Muller J Zschocke P Burgard GF Hoffmann, Pediatr Res 2007 62 357 363 10.1203/PDR.0b013e318137a124 17622945 (Pubitemid 47301490)
21. Clinical research for rare disease: opportunities, challenges, and solutions. RC Griggs M Batshaw M Dunkle R Gopal-Srivastava E Kaye J Krischer T Nguyen K Paulus PA Merkel Rare Diseases Clinical Research Network, Mol Genet Metab 2009 96 20 26 10.1016/j.ymgme.2008.10.003 19013090
22. The consequences of extended newborn screening programmes: Do we know who needs treatment? B Wilcken, J Inherit Metab Dis 2008 31 173 177 10.1007/s10545-008-0843-8
23. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. C Ficicioglu N Thomas C Yager PR Gallagher C Hussa A Mattie DL Day-Salvatore BJ Forbes, Mol Genet Metab 2008 95 206 212 10.1016/j.ymgme.2008.09.005 18976948
24. An evidence development process for newborn screening. JM Perrin AA Knapp MF Browning AM Comeau NS Green EA Lipstein DR Metterville L Prosser D Queally AR Kemper, Genet Med 2010 12 131 134 10.1097/GIM.0b013e3181d28eb1 20154629
25. Evaluation of population newborn screening practices for rare disorders in Member States of the European Union, The tender No. EAHC/2009/Health/09 (Accessed May 18, 2011, at http://www.iss.it/cnmr/prog/cont.php?;id = 1621&lang = 1&tipo = 64 )
26. Expanded newborn screening: reducing harm, assessing benefit. B Wilcken, J Inherit Metab Dis 2010 30 uppl 2: S205 S210
27. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. M Lindner G Abdoh J Fang-Hoffmann N Shabeck M Al-Sayrafi M Al-Janahi S Ho MO Abdelrahman T Ben-Omran A Bener A Schulze H Al-Rifai G Al-Thani GF Hoffmann, J Inherit Metab Dis 2007 30 522 529 10.1007/s10545-007-0553-7 17510756 (Pubitemid 47377047)
28. Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. H Gan-Schreier M Kebbewar J Fang-Hoffmann J Wilrich G Abdoh T Ben-Omran N Shahbek A Bener H Al Rifai AL Al Khal M Lindner J Zschocke GF Hoffmann, J Pediatr 2010 156 427 432 10.1016/j.jpeds.2009.09.054 19914636
29. Expanded newborn screening experience in Istanbul. M Demirkol S elik G Gökgay I zer T Baykal H Karada R Köse, J Inherit Metab Dis 2007 30 Suppl 1 3
30. Nationwide Survey of Extended Newborn Screening by Tandem Mass Spectrometry in Taiwan. DM Niu YH Chien CC Chiang HC Ho WL Hwu SM Kao SH Chiang CH Kao TT Liu H Chiang KJ Hsiao, J Inherit Metab Dis 2010 30 Suppl 2 295 S305