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

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Irish Journal of Medical Science (1971 -) Aims and scope Submit manuscript

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.

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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.

Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland

    J. J. O’Byrne, S. A. Lynch & D. R. Betts

  2. National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin 1, Ireland

    E. P. Treacy

  3. Department of Neurology, Temple Street Children’s University Hospital, Dublin 1, Ireland

    M. D. King

  4. Department of Biochemistry, Temple Street Children’s University Hospital, Dublin 1, Ireland

    P. D. Mayne

  5. Department of Paediatrics, Midland Regional Hospital, Mullingar, Co. Westmeath, Ireland

    F. Sharif

Authors
  1. J. J. O’Byrne
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  2. S. A. Lynch
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  3. E. P. Treacy
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  4. M. D. King
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  5. D. R. Betts
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  6. P. D. Mayne
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  7. F. Sharif
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Corresponding author

Correspondence to J. J. O’Byrne.

Appendix

Appendix

If any of the following are present, they should be included in clinical details to accompany request for metabolic investigations:

  1. (i)

    GDD/LD (state domains and degree of delay)

  2. (ii)

    Family history of metabolic disease

  3. (iii)

    Consanguinity

  4. (iv)

    Membership to an ethnic group

  5. (v)

    Dysmorphic features

  6. (vi)

    Hypoglycaemia (state glucose requirements)

  7. (vii)

    Seizures

  8. (viii)

    Microcephaly/macrocephaly

  9. (ix)

    Hypotonia

  10. (x)

    Hepatomegaly

  11. (xi)

    Eye abnormalities

  12. (xii)

    Hearing abnormalities

  13. (xiii)

    Vomiting

  14. (xiv)

    Sepsis

  15. (xv)

    Mechanical ventilation

  16. (xvi)

    Intravenous (IV) fluids e.g. dextrose

  17. (xvii)

    Medications (IV/oral) e.g. dopamine, antiepileptics

  18. (xviii)

    Failure to thrive (state if on feed containing medium chain triglyceride (MCT) oil or carnitine)

  19. (xix)

    Time of sampling in relation to last meal

  20. (xx)

    Lethargy

  21. (xxi)

    Metabolic acidosis

  22. (xxii)

    Raised plasma lactate

  23. (xxiii)

    Raised plasma ammonia

  24. (xxiv)

    Raised plasma CPK

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O’Byrne, J.J., Lynch, S.A., Treacy, E.P. et al. Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations. Ir J Med Sci 185, 241–248 (2016). https://doi.org/10.1007/s11845-015-1284-7

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  • DOI: https://doi.org/10.1007/s11845-015-1284-7

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