Assessment of the importance of neuropediatric diagnostics in the initial clarification of autism

Abstract

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 astandard operating procedure for atargeted assessment. 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. A total of 82 patients were included (male 78%, female 22%; mean age 5.9 ± 2.9years, range 2-16years). 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). Ametabolic diagnostic work-up was performed in 44/82 (53.7%) cases and in 5/44 (11.4%) it resulted in adiagnosis or suspicion of ametabolic 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. Neuropediatric examination in cases of suspected autism should include adetailed history, a thorough neurological examination and an EEG. An MRI, comprehensive metabolic and genetic testing are only recommended if clinically indicated.