Advertisement

Irish Journal of Medical Science (1971 -)

, Volume 185, Issue 1, pp 241–248 | Cite as

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations

  • J. J. O’Byrne
  • S. A. Lynch
  • E. P. Treacy
  • M. D. King
  • D. R. Betts
  • P. D. Mayne
  • F. Sharif
Original Article

Abstract

Background

Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty.

Aims

A guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID.

Methods and recommendations

A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs.

Conclusion

It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.

Keywords

Guidelines Global developmental delay Learning disability First line investigations 

Notes

Acknowledgments

This guideline has been developed in collaboration with the following contributions:

Prof. A.J. Green, Dr. D.E. Barton, Dr. M. Sweeney: contributions from The Department of Clinical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland.

Dr. A.A. Monavari, Dr. E. Crushell, Dr. J. Hughes, Dr. I. Knerr: contributions from The National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin 1, Ireland

Ms. P. Fitzsimons: contributions from The Department of Biochemistry, Temple Street Children’s University Hospital, Dublin 1, Ireland.

Dr. S. Macken: contributions from The Department of Developmental Paediatrics, Temple Street Children’s University Hospital, Dublin 1, Ireland.

References

  1. 1.
    Shevell M, Ashwal S, Donley D et al (2003) 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 60(3):367–380PubMedCrossRefGoogle Scholar
  2. 2.
    Sherr EH, Shevell MI (2012) Global developmental delay and mental retardation/intellectual disability. Pediatric neurology: principles and practice, 5th edn. Elsevier Saunders, Philadelphia, pp 554–574Google Scholar
  3. 3.
    Central Statistics Office (2012) Census 2011 Profile 8-Our Bill of Health.  The Stationary Office, Dublin, pp 22–23Google Scholar
  4. 4.
    Yeargin-Allsopp M, Murphy CC, Cordero JF, Decouflé P, Hollowell JG (1997) Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol 39(3):142–149PubMedCrossRefGoogle Scholar
  5. 5.
    Saudubray JM (2009) Neurometabolic disorders. J Inherited Metab Dis 32:595–596PubMedCrossRefGoogle Scholar
  6. 6.
    Garcia Cazorla A, Wolf NI, Serrano M (2009) Mental retardation and inborn errors of metabolism. J Inherited Metab Dis 32(5):597–608PubMedCrossRefGoogle Scholar
  7. 7.
    Moeschler JB, Shevell M, Committee On Genetics (2014) Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 134(3):e903–e918PubMedCrossRefGoogle Scholar
  8. 8.
    Gringras P (1998) Child choice of medical investigations for developmental delay: a questionnaire survey. Child Care Health Dev 24(4):267–276PubMedCrossRefGoogle Scholar
  9. 9.
    McDonald L, Rennie A, Tolmie J et al (2006) Investigation of global developmental delay. Arch Dis Child 91(8):701–705PubMedPubMedCentralCrossRefGoogle Scholar
  10. 10.
    Moeschler JB, Shevell M (2006) Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117(6):2304–2316PubMedCrossRefGoogle Scholar
  11. 11.
    Moeschler JB (2008) Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 15:2–9PubMedCrossRefGoogle Scholar
  12. 12.
    Cleary MA, Green A (2005) Developmental delay: when to suspect and how to investigate for an inborn error of metabolism. Arch Dis Child 90:1128–1132PubMedPubMedCentralCrossRefGoogle Scholar
  13. 13.
    Sherr EH, Michelson DJ, Shevell MI et al (2013) Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol 74:164–170PubMedCrossRefGoogle Scholar
  14. 14.
    National Metabolic Biochemistry Network, lead author Galloway P (2010) Best practice guidelines for the biochemical investigation of global developmental delay for inherited metabolic disorders (IMD), Version 2.0Google Scholar
  15. 15.
    Majnemer A, Shevell MI (1995) Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 127(2):193–199PubMedCrossRefGoogle Scholar
  16. 16.
    Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M (2000) Etiologic yield of single domain developmental delay: a prospective study. J Pediatr 137(5):633–637PubMedCrossRefGoogle Scholar
  17. 17.
    Battaglia A, Bianchini E, Carey JC (1999) Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet 82(1):60–66PubMedCrossRefGoogle Scholar
  18. 18.
    Coss KP, Doran PP, Owoeye C et al (2013) Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis 36(1):21–27PubMedCrossRefGoogle Scholar
  19. 19.
    Murphy AM, Lambert D, Treacy EP, O’Meara A, Lynch SA (2009) Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish Republic. Arch Dis Child 94(1):52–54PubMedCrossRefGoogle Scholar
  20. 20.
    Murphy AM, Flanagan O, Dunne K, Lynch SA (2007) High prevalence of Cohen syndrome among Irish travellers. Clin Dysmorphol 16(4):257–259PubMedCrossRefGoogle Scholar
  21. 21.
    Srour M, Shevell M (2014) Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child 99(4):386–389PubMedCrossRefGoogle Scholar
  22. 22.
    Miller DT, Adam MP, Aradhya S et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749–764PubMedPubMedCentralCrossRefGoogle Scholar
  23. 23.
    Abrams L, Cronister A, Brown WT (2012) Newborn carrier and early childhood screening recommendations for fragile X. Paediatrics 130:1126–1135CrossRefGoogle Scholar
  24. 24.
    Hersch JH, Saul RA, Committee on Genetics (2011) Health supervision for children with fragile X syndrome. Paediatrics 127:994–1006CrossRefGoogle Scholar
  25. 25.
    Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J (2014) Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A 164(7):1648–1658CrossRefGoogle Scholar
  26. 26.
  27. 27.
    Smith K, Chandler K, Hindley D, Ramsden SC (2013) Fragile X syndrome testing in the North West. Arch Dis Child 98(3):239PubMedCrossRefGoogle Scholar
  28. 28.
    de Vries BB, Mohkamsing S, van den Ouweland AM et al (1999) Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group. J Med Genet 36(6):467–470PubMedPubMedCentralGoogle Scholar
  29. 29.
    Demaerel P, Kingsley DP, Kendall BE (1993) Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients. Pediatr Radiol 23(1):29–33PubMedCrossRefGoogle Scholar
  30. 30.
    Michelson DJ, Shevell MI, Sherr EH et al (2011) Evidence report: genetic and metabolic testing on children 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 77(17):1629–1635PubMedCrossRefGoogle Scholar
  31. 31.
    Van Karnebeek CDM, Jansweijer MCE, Leenders AGE, Offringa M, Hennekam RCM (2005) Diagnostic investigations in individuals with mental retardation: a system literature review. Eur J Hum Genet 13:6–25PubMedCrossRefGoogle Scholar
  32. 32.
    Trakadis Y, Shevell M (2011) Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis. Dev Med Child Neurol 53(11):994–999PubMedCrossRefGoogle Scholar
  33. 33.
    Honeycutt A, Dunlap L, Chen H, al Homsi G, Grosse S, Schendel D (2004) Economic costs associated with mental retardation, cerebral palsy, hearing loss and vision impairment United States, 2003. MMWR Morb Mortal Wkly Rep 53:57–59Google Scholar
  34. 34.
    Bokhoven H (2011) Genetic and epigenetic networks in intellectual disabilities. Ann Rev Genet 45:81–104PubMedCrossRefGoogle Scholar
  35. 35.
    The Online Metabolic and Molecular Bases of Inherited Disease (2014) http://ommbid.mhmedical.com/book.aspx?bookID=474 Academic Press: McGraw-Hill Medical
  36. 36.
    Van Karnebeek CD, Stockler S (2012) Treatable inborn errors of metabolism causing intellectual disability: a systemic literature review. Mol Genet Metab 105:368–381PubMedCrossRefGoogle Scholar
  37. 37.
    Van Karnebeek CD, Shevell M, Zschocke J et al (2014) 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 111(4):428–438PubMedCrossRefGoogle Scholar

Copyright information

© European Union 2015

Authors and Affiliations

  • J. J. O’Byrne
    • 1
  • S. A. Lynch
    • 1
  • E. P. Treacy
    • 2
  • M. D. King
    • 3
  • D. R. Betts
    • 1
  • P. D. Mayne
    • 4
  • F. Sharif
    • 5
  1. 1.Department of Clinical GeneticsOur Lady’s Children’s HospitalDublin 12Ireland
  2. 2.National Centre for Inherited Metabolic DisordersTemple Street Children’s University HospitalDublin 1Ireland
  3. 3.Department of NeurologyTemple Street Children’s University HospitalDublin 1Ireland
  4. 4.Department of BiochemistryTemple Street Children’s University HospitalDublin 1Ireland
  5. 5.Department of PaediatricsMidland Regional HospitalMullingarIreland

Personalised recommendations