[Assessment of the importance of neuropediatric diagnostics in the initial clarification of autism].

Abstract

Background: The diagnostics of autism spectrum disorder is complex due to missing biological markers and numerous comorbidities. The aim was to assess the role of neuropediatric diagnostics and to develop a standard operating procedure for a targeted assessment.

Method: All patients presenting to the neuropediatric outpatient clinic at Saarland University Hospital between April 2014 and December 2017 with ICD code F84 pervasive developmental disorders were included.

Results: A total of 82 patients were included (male 78%, female 22%; mean age 5.9 ± 2.9 years, range 2-16 years). The most frequent examination was electroencephalography (EEG) (74/82; 90.2%) with pathological findings in 33.8% (25/74). Based on the history and/or EEG epilepsy was diagnosed in 19.5% (16/82). Magnetic resonance imaging (MRI) was performed in 49/82 (59.8%) patients, 22/49 (44.9%) showed at least 1 cerebral abnormality and definite pathologies could be detected in 63.6% (14/22). A metabolic diagnostic work-up was performed in 44/82 (53.7%) cases and in 5/44 (11.4%) it resulted in a diagnosis or suspicion of a metabolic disease. Genetic testing results were available in 29/82 (35.4%) children and 12/29 (41.4%) showed abnormal results. Delay in motor development was more frequently associated with comorbidities, EEG abnormalities, epilepsy and abnormalities in metabolic and genetic testing.

Conclusion: Neuropediatric examination in cases of suspected autism should include a detailed history, a thorough neurological examination and an EEG. An MRI, comprehensive metabolic and genetic testing are only recommended if clinically indicated.