Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

Metabolic evaluation of children with global developmental delay

  • Eun, So-Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Hahn, Si Houn (Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine)
  • Received : 2014.12.15
  • Accepted : 2015.03.04
  • Published : 2015.04.15
Download PDF
⟨ Previous Next ⟩

Abstract

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

Keywords

References

  1. Shevell M, Majnemer A, Platt RW, Webster R, Birnbaum R. Developmental and functional outcomes in children with global developmental delay or developmental language impairment. Dev Med Child Neurol 2005;47:678-83. https://doi.org/10.1017/S0012162205001386
  2. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003;60:367-80. https://doi.org/10.1212/01.WNL.0000031431.81555.16
  3. Jimenez-Gomez A, Standridge SM. A refined approach to evaluating global developmental delay for the international medical community. Pediatr Neurol 2014;51:198-206. https://doi.org/10.1016/j.pediatrneurol.2013.12.018
  4. Sherr EH, Shevell MI. Global developmental delay and mental retardation/intellectual disability. In: Swaiman KF, Ashwal S. Ferriero DM, Schor NF. Swaiman's pediatric neurology. 5th ed. Elsevier Saunders, 2012:554-74.
  5. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 2014;134:e903-18. https://doi.org/10.1542/peds.2014-1839
  6. van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 2005;13:6-25. https://doi.org/10.1038/sj.ejhg.5201279
  7. Clarke JT. A clinical guide to inherited metabolic diseases. Cambridge: Cambridge University Press, 2006.
  8. van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, et al. Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 2005;110:253-67. https://doi.org/10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2
  9. Sempere A, Arias A, Farre G, Garcia-Villoria J, Rodriguez-Pombo P, Desviat LR, et al. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J Inherit Metab Dis 2010;33:1-7.
  10. Engbers HM, Berger R, van Hasselt P, de Koning T, de Sain-van der Velden MG, Kroes HY, et al. Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol 2008;64:212-7. https://doi.org/10.1002/ana.21435
  11. Papavasiliou AS, Bazigou H, Paraskevoulakos E, Kotsalis C. Neurometabolic testing in developmental delay. J Child Neurol 2000;15:620-2. https://doi.org/10.1177/088307380001500909
  12. Mueller S, Sherr EH. The importance of metabolic testing in the evaluation of intellectual disability. Ann Neurol 2008;64:113-4. https://doi.org/10.1002/ana.21468
  13. van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab 2012;105:368-81. https://doi.org/10.1016/j.ymgme.2011.11.191
  14. van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 2014;11:428-38.

Cited by

  1. 감각통합접근 부모교육이 발달지체 아동의 감각처리능력에 대한 부모의 이해도에 미치는 효과 vol.13, pp.1, 2015, https://doi.org/10.18064/jkasi.2015.13.1.033
  2. Effect of multi-sensory stimulation on children with global developmental delay vol.44, pp.10, 2015, https://doi.org/10.1016/j.asjsur.2021.06.051