Abstract
Autism or Autism Spectrum Disorders (ASD) is serious lifelong neurobehavioral impairment, significantly complicating the integration of an individual into the normal life. Etiology of ASD is usually complex combination of different disturbances, and remains unknown in a majority of cases.
Cerebral Folate Deficiency (CFD) is a neurodegenerative syndrome characterized by reduced concentrations of metabolically active folate in cerebrospinal fluid (CSF) and normal serum levels in most cases. While a serious CFD can be easily diagnosed because of presence of obvious motor and sensory impairment, a mild CFD can play a role in the development of various behavioral disabilities including ASD with no apparent physical disability.
Severity of CFD is highly variable. The CFD is usually partially, rarely completely, compensable syndrome and some publications reported also positive therapeutic effect on the core ASD symptoms (impaired communication, social interaction, abstraction and stereotypic behavior), commonly referred to as incurable.
Rarely, the full recovery from the ASD symptoms in the patients with proven CFD, have been published. Although the CFD has been described already in 2002, the first study aimed at the effect of the treatment focused on the idiopathic ASD core symptoms was published in 2013.
The aim of this review was to summarize available information on the coincidence of CFD and ASD, to describe the importance of folate depletion for development and function of the Central Nervous System (CNS) and to point out the potential relationships to other pathological findings in ASD. Another objective was to map the most common causes of CFD, to quantify coincidence of CFD and ASD and to evaluate the treatment effectiveness tested so far, again focused on improving the ASD core symptoms.
Further research in this area could lead to new therapeutic options of idiopathic autism.