Pediatric guidelines

Kemper, Kathi J.; Butler, Lisa D.; Culbert, Tim; Eisenberg, David; Gardiner, Paula; Gaylord, Susan; Glick, Ron; Gold, Jeffrey I.; Guerrera, Mary P.; Harrigan, Roseanne; Kreitzer, Mary Jo; Lee, Roberta; McLean, Thomas W.; Olness, Karen; Pan, John; Pettignano, Robert; Rickhi, Badri; Rosen, Lawrence D.; Sahler, Olle Jane Z.; Sierpina, Victor S.; Tsao, Jennie C.I.; Vohra, Sunita; Weydert, Joy A.; Zeltzer, Lonnie K.; Zempsky, William T.

doi:10.1016/j.explore.2006.06.020

Cited by 1 publication

(2 citation statements)

References 37 publications

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“…Treatment efficacy is determined, and problems with execution and maintenance are identified. The impact of diagnoses on families is also researched, as are the effects of screening on the population ( EURORDIS.Rare diseases, 2005 ; Kemper et al, 2006 ).…”

Section: Resultsmentioning

confidence: 99%

“…Families must be informed of abnormal results as soon as possible so that confirmatory diagnostic tests can be performed and should receive guidance and support from a healthcare professional, usually a pediatrician or neonatologist, to explain the importance of positive screening results, the possibility of false positives and the need for confirmatory tests. At this stage, the treating physician must assess whether the child is in stable health and take appropriate action (Kemper et al, 2006). Frontiers in Genetics frontiersin.org…”

Section: Stages Of the Newborn Screening Processmentioning

confidence: 99%

See 1 more Smart Citation

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Giugliani

Taucher

Hafez³

et al. 2022

Front. Genet.

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Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.

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Section: Resultsmentioning

confidence: 99%

Section: Stages Of the Newborn Screening Processmentioning

confidence: 99%