X-ALD as the Cause of Autistic Behavior

Background: The workup of the etiology of autism (metabolism, genetics, imaging) usually gains no or only few helpful findings. Therefore, these investigations are often not performed until late or not at all.

Methods: An 8-year-old boy was treated in an outpatient setting for 2 years, then he was referred to a psychiatric clinic. He was found to be autistic; the parents felt to be overbearing and inconsistent in their caretaking. From there he was presented to our Social Pediatric Center (SPZ) with suspected early-infantile autism to perform the ADOS (autism diagnostic observation schedule). Based on the MRI report, we suspected X-linked adrenoleukodystrophy (X-ALD), which was confirmed by genetic findings. At this time, it was already too late for a bone marrow transplantation.

Results: In our examination with the ADOS, the boy showed autism-specific behaviors. The diagnostic criteria for autism were fulfilled (ADOS-2 comparative value 9/10). But when analyzing the videos in the knowledge of the diagnosis X-ALD, it becomes clear that many behaviors have to be interpreted different. Moreover, in retrospective the history taking showed clear differences with classical early-childhood autism, especially the developmental deterioration.

Conclusion: The X-ALD is a rare but important differential diagnosis of early-infantile autism. It is important to know the differences to make the diagnosis at an early stage.