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 EDIâˆ’ were less likely to be investigated (Ï‡2=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%, Ï‡2=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
- Diagnosis Differential
- Investigative Techniques
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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.