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Aetiological investigations in early developmental impairment: are they worth it?
  1. Anthony Richard Hart1,
  2. Ruchi Sharma2,
  3. Mark Atherton3,
  4. Samer Alabed4,
  5. Sally Simpson3,
  6. Stuart Barfield3,
  7. Judith Cohen5,
  8. Nicholas McGlashan4,
  9. Asha Ravi6,
  10. Michael James Parker7,
  11. Daniel JA Connolly4
  1. 1 Department of Paediatric Neurology, Sheffield Children’s Hospital NHS Foundation Trust, Ryegate Children’s Centre, Sheffield, UK
  2. 2 Department of Paediatric Neurodisability, Sheffield Children’s Hospital NHS Foundation Trust, Ryegate Children’s Centre, Sheffield, UK
  3. 3 Department of Paediatrics, Sheffield Children’s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK
  4. 4 Department of Paediatric Neuroradiology, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK
  5. 5 Clinical Trials Research Unit, School of Health and Related Research, University of Sheffield, Sheffield, UK
  6. 6 Department of Community Paediatrics, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK
  7. 7 Department of Clinical Genetics, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr Anthony Richard Hart, Department of Paediatric and Neonatal Neurology, Sheffield Children’s Hospital NHS Foundation Trust, Ryegate Children’s Centre, Tapton Crescent Road, Sheffield S10 5DD, UK; anthony.hart{at}sch.nhs.uk

Abstract

Objective To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations.

Design Retrospective case note review.

Setting Community, neurodisability and neurology department at a UK tertiary centre.

Participants Children referred to determine the aetiology of EDI where a cause was not evident on history and examination. Participants were divided into two groups: EDI and no additional features (EDI−) and EDI with additional features (EDI+).

Main outcome measures The frequency a cause was found for the child’s EDI and which tests contributed to a diagnosis.

Results 699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI− were less likely to be investigated (χ2=12.5, p<0.05). A diagnosis was made in 166 children (23.7%) and was more frequent in EDI+ (EDI− 9.9%, EDI+ 27.3%, χ2=19.0; p<0.05). Full blood count, zinc protoporphyrin, renal or liver function, bone profile, biotinidase, creatine kinase or lead level revealed no diagnoses. The following investigations found causes for EDI: MRI (23.1%), microarray (11.5%), Fragile X (0.9%), plasma amino acids (1.2%), urine organic acids (0.9%) and thyroid function tests (0.5%).

Conclusions The majority of ‘screening’ investigations for EDI do not contribute to a diagnosis, highlighting an area of cost saving for the NHS and reduced burden for patients and families. We propose a streamlined guideline for the investigation of EDI based on our data.

  • Child Development
  • Developmental Disabilities
  • Etiology
  • Diagnosis Differential
  • Investigative Techniques

https://doi.org/10.1136/archdischild-2017-312843

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    Footnotes

    • Contributors ARH designed/conceived the project, collated data from medical notes and investigation software, analysed data and drafted the paper. RS, MA, SA, SS, SB, NM, AR, MJP and DJAC significantly contributed to revising project design, identified participants, reviewed notes and investigation software to determine phenotype and the contribution made to diagnosis by investigations, reviewed and commented on data analysis, reviewed drafts of the paper and agreed on the final version. JC significantly contributed to reviewing study design and recommended changes to methodology, reviewed and assisted with data analysis and interpretation, assisted in drafting the paper and agreed on the final version submitted. All authors are accountable for the integrity and accuracy of the data submitted.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

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