Abstract
Objectives
Alberta maintains a universal screening program for congenital hypothyroidism, a condition which, when treated promptly prevents neurological impairment. Because the program relies on multiple stakeholders working in different areas, it is not known how effective the overall process is in achieving timely treatment initiation. Our objective was to analyze and describe the informatics of this program.
Methods
Data were collected from the Newborn Metabolic Screening Program and physician offices for hypothyroidism screen positive infants born between January 1, 2005 and May 31, 2008. Where data were available, times were determined for each interval: birth to sample collection, collection to receipt in central laboratory, receipt to report to the primary clinician, report to confirmatory test, and finally confirmation to thyroxin treatment.
Results
Complete information was found on the stages up until report generation. Although subsequent intervals had less complete data, all but 5 of the 57 newborns were followed to the endpoint of treatment initiation or diagnosis exclusion. The program was consistent and efficient in collecting, analyzing and reporting results to the primary physician by a median of 8 days (range 4–14 days). Subsequent steps resulted in a median time from birth to treatment of 11 days. There were 4 cases for which delays in clinician follow-up led to treatment initiation at 27, 34, 56 and 70 days.
Conclusion
Newborn screening for congenital hypothyroidism in Alberta is efficient and consistent up until responsibility shifts to the community. Quality improvement work is needed to reduce potential delays.
Key words: Newborn screening, congenital hypothyroidism, health informatics
Résumé
Objectifs
L’Alberta administre un programme de dépistage universel de l’hypothyroïdie congénitale, une affection qui peut entraîner des déficiences neurologiques si elle n’est pas traitée promptement. Comme le programme fait appel à de nombreux intervenants qui travaillent dans différents secteurs, on ignore si le processus est efficace, dans l’ensemble, pour amorcer des traitements en temps utile. Nos objectifs étaient d’analyser et de décrire les données informatiques de ce programme.
Méthode
Les données provenaient du programme de dépistage métabolique néonatal de l’Alberta et des rapports des cabinets de médecins sur les nourrissons atteints d’hypothyroïdie nés entre le 1er janvier 2005 et le 31 mai 2008. Lorsqu’il était possible de le faire, nous avons déterminé les dates de chacun des intervalles suivants: de la naissance à la cueillette de l’échantillon; de la cueillette à la réception au laboratoire central; de la réception à la communication du résultat au clinicien de premier recours; de la communication au test confirmatoire; et enfin de la confirmation au traitement par thyroxine.
Résultats
Nos renseignements étaient complets à tous les stades jusqu’à celui de la communication du résultat. Pour les intervalles suivants, nos données étaient moins complètes, mais seuls 5 des 57 nouveau-nés n’ont pas été suivis jusqu’au stade final (amorce du traitement ou diagnostic d’exclusion). Le programme était cohérent et efficient pour ce qui est de la collecte, de l’analyse et de la communication des résultats aux médecins de premier recours en 8 jours environ (valeur médiane), l’intervalle étant de 4 à 14 jours. En incluant toutes les étapes, le temps médian de la naissance au traitement était de 11 jours. Dans quatre cas, des retards dans le suivi par le clinicien ont reporté l’amorce du traitement, qui a eu lieu après 27, 34, 56 et 70 jours, respectivement.
Conclusion
Le dépistage néonatal de l’hypothyroïdie congénitale en Alberta est efficient et cohérent jusqu’au stade où la responsabilité du programme revient à la communauté. Il faudrait apporter des améliorations qualitatives pour réduire les retards possibles.
Mots clés: dépistage néonatal, hypothyroïdie congénitale, informatique Médicale
Footnotes
Conflict of Interest: None to declare.
References
- 1.Fisher DA. Chapter 8: Congenital hypothyroidism. In: Sperling MA, editor. Pediatric Endocrinology. 2nd, ed. Philadelphia, PA: Saunders; 2002. p. 176. [Google Scholar]
- 2.Koch CA, Sarlis NJ. The spectrum of thyroid diseases in childhood and its evolution during transition to adulthood: Natural history, diagnosis, differential diagnosis and management. J Endocrinol Invest. 2001;24(9):659–75. doi: 10.1007/BF03343911. [DOI] [PubMed] [Google Scholar]
- 3.LaFranchi SH. Disorders of the thyroid gland. In: Kliegman R, editor. Nelson Textbook of Pediatrics. 18th, ed. Philadelphia: Saunders; 2007. [Google Scholar]
- 4.Alberta HealthWellness. Newborn metabolic screening in Alberta, 2002–2005. Edmonton, AB: Provincial Health Office; 2006. [Google Scholar]
- 5.Toublanc JE. Guidelines for neonatal screening programs for congenital hypothyroidism. Working group for neonatal screening in paediatric endocrinology of the European Society for Paediatric Endocrinology. Acta Paediatr Suppl. 1999;88(432):13–14. doi: 10.1111/j.1651-2227.1999.tb01147.x. [DOI] [PubMed] [Google Scholar]
- 6.American Academy of Pediatrics, Rose SR; Section on EndocrinologyCommittee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society. Foley T, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117(6):2290–303. doi: 10.1542/peds.2006-0915. [DOI] [PubMed] [Google Scholar]
- 7.US Preventive Services Task Force. Screening for congenital hypothyroidism: US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6(2):166. doi: 10.1370/afm.823. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 8.Alberta HealthWellness. Alberta newborn metabolic screening standards/guidelines. Government document. Edmonton, AB: Health Surveillance, Alberta Health; 1999. [Google Scholar]
- 9.Spady DW, Saunders LD, Bamforth F. Who gets missed: Coverage in a provincial newborn screening program for metabolic disease. Pediatrics. 1998;102(2):e21. doi: 10.1542/peds.102.2.e21. [DOI] [PubMed] [Google Scholar]
- 10.Simpson N, Randall R, Lenton S, Walker S. Audit of neonatal screening programme for phenylketonuria and congenital hypothyroidism. Arch Dis Child Fetal Neonatal Ed. 1997;77(3):F228–F234. doi: 10.1136/fn.77.3.F228. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 11.Ray M, Muir TM, Murray GD, Kennedy R, Girdwood RW, Donaldson MD. Audit of screening programme for congenital hypothyroidism in Scotland 1979–93. Arch Dis Child. 1997;76(5):411–15. doi: 10.1136/adc.76.5.411. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12.Leger J. Screening for congenital hypothyroidism in France. Misdiagnosed cases: Collaborative study of screening centres in France. Eur J Pediatr. 1990;149(9):605–7. doi: 10.1007/BF02034742. [DOI] [PubMed] [Google Scholar]
- 13.Holtzman C, Slazyk WE, Cordero JF, Hannon WH. Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics. 1986;78(4):553–58. [PubMed] [Google Scholar]
- 14.UK Newborn Screening Programme Centre. Newborn blood spot screening in the UK: Policies and standards. London, UK: UK Newborn Screening Programme Centre; 2005. [Google Scholar]
- 15.Grant DB, Smith I. Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982–4. Br Med J (Clin Res Ed) 1988;296(6633):1355–58. doi: 10.1136/bmj.296.6633.1355. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 16.Derksen-Lubsen G. Screening for congenital hypothyroidism in the Netherlands (thesis) Leiden: TNO Institute for Preventive Health Care; 1981. [Google Scholar]
- 17.Virtanen M, Perheentupa J, Maenpaa J, Pitkanen L, Pikkarainen J. Finnish national screening for hypothyroidism. Few false positives, early therapy. Eur J Pediatr. 1984;143(1):2–5. doi: 10.1007/BF00442737. [DOI] [PubMed] [Google Scholar]
- 18.Pharoah PO, Madden MP. Audit of screening for congenital hypothyroidism. Arch Dis Child. 1992;67(9):1073–76. doi: 10.1136/adc.67.9.1073. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 19.Hopfner S, Koehler N, Hopfner B, Rauterberg EW. Neonatal screening for congenital hypothyroidism in Germany. The development of concerned children in retrospect analysis using the federal state “Hessen”. Klin Padiatr. 2007;219(4):206–11. doi: 10.1055/s-2006-921579. [DOI] [PubMed] [Google Scholar]
- 20.AAP Newborn Screening Task Force. Serving the family from birth to the medical home. Newborn screening: A blueprint for the future - a call for a national agenda on state newborn screening programs. Pediatrics. 2000;106(2Pt2):389–422. [PubMed] [Google Scholar]