Aetiological investigations in early developmental impairment: are they worth it?
Arch Dis Child
; 102(11): 1004-1013, 2017 11.
Article
en En
| MEDLINE
| ID: mdl-28735260
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 OUTCOMEMEASURES:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Desarrollo Infantil
/
Discapacidades del Desarrollo
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Observational_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
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Infant
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Arch Dis Child
Año:
2017
Tipo del documento:
Article
País de afiliación:
Reino Unido