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Irish Journal of Medical Science (1971 -)
Published in: Irish Journal of Medical Science (1971 -) 1/2016

01-02-2016 | Original Article

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

Authors: J. J. O’Byrne, S. A. Lynch, E. P. Treacy, M. D. King, D. R. Betts, P. D. Mayne, F. Sharif

Published in: Irish Journal of Medical Science (1971 -) | Issue 1/2016

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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.
Appendix
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Literature
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):367–380PubMedCrossRef
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 554–574
3.
Central Statistics Office (2012) Census 2011 Profile 8-Our Bill of Health.  The Stationary Office, Dublin, pp 22–23
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):142–149PubMedCrossRef
5.
6.
Garcia Cazorla A, Wolf NI, Serrano M (2009) Mental retardation and inborn errors of metabolism. J Inherited Metab Dis 32(5):597–608PubMedCrossRef
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–e918PubMedCrossRef
8.
Gringras P (1998) Child choice of medical investigations for developmental delay: a questionnaire survey. Child Care Health Dev 24(4):267–276PubMedCrossRef
9.
10.
Moeschler JB, Shevell M (2006) Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117(6):2304–2316PubMedCrossRef
11.
12.
13.
Sherr EH, Michelson DJ, Shevell MI et al (2013) Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol 74:164–170PubMedCrossRef
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 2.0
15.
Majnemer A, Shevell MI (1995) Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 127(2):193–199PubMedCrossRef
16.
Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M (2000) Etiologic yield of single domain developmental delay: a prospective study. J Pediatr 137(5):633–637PubMedCrossRef
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):60–66PubMedCrossRef
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):21–27PubMedCrossRef
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):52–54PubMedCrossRef
20.
Murphy AM, Flanagan O, Dunne K, Lynch SA (2007) High prevalence of Cohen syndrome among Irish travellers. Clin Dysmorphol 16(4):257–259PubMedCrossRef
21.
Srour M, Shevell M (2014) Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child 99(4):386–389PubMedCrossRef
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):749–764PubMedPubMedCentralCrossRef
23.
Abrams L, Cronister A, Brown WT (2012) Newborn carrier and early childhood screening recommendations for fragile X. Paediatrics 130:1126–1135CrossRef
24.
Hersch JH, Saul RA, Committee on Genetics (2011) Health supervision for children with fragile X syndrome. Paediatrics 127:994–1006CrossRef
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):1648–1658CrossRef
26.
27.
Smith K, Chandler K, Hindley D, Ramsden SC (2013) Fragile X syndrome testing in the North West. Arch Dis Child 98(3):239PubMedCrossRef
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):467–470PubMedPubMedCentral
29.
Demaerel P, Kingsley DP, Kendall BE (1993) Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients. Pediatr Radiol 23(1):29–33PubMedCrossRef
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):1629–1635PubMedCrossRef
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 13:6–25PubMedCrossRef
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):994–999PubMedCrossRef
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 53:57–59
34.
Bokhoven H (2011) Genetic and epigenetic networks in intellectual disabilities. Ann Rev Genet 45:81–104PubMedCrossRef
35.
36.
Van Karnebeek CD, Stockler S (2012) Treatable inborn errors of metabolism causing intellectual disability: a systemic literature review. Mol Genet Metab 105:368–381PubMedCrossRef
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):428–438PubMedCrossRef
Metadata
Title
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations
Authors
J. J. O’Byrne
S. A. Lynch
E. P. Treacy
M. D. King
D. R. Betts
P. D. Mayne
F. Sharif
Publication date
01-02-2016
Publisher
Springer London
Published in
Irish Journal of Medical Science (1971 -) / Issue 1/2016
Print ISSN: 0021-1265
Electronic ISSN: 1863-4362
DOI
https://doi.org/10.1007/s11845-015-1284-7

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