RT Journal Article
SR Electronic
T1 Aetiological investigations in early developmental impairment: are they worth it?
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP archdischild-2017-312843
DO 10.1136/archdischild-2017-312843
A1 Anthony Richard Hart
A1 Ruchi Sharma
A1 Mark Atherton
A1 Samer Alabed
A1 Sally Simpson
A1 Stuart Barfield
A1 Judith Cohen
A1 Nicholas McGlashan
A1 Asha Ravi
A1 Michael James Parker
A1 Daniel JA Connolly
YR 2017
UL http://adc.bmj.com/content/early/2017/07/18/archdischild-2017-312843.abstract
AB 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.