diagnosis are identifiable in only a limited number of persons diagnosed with an ASD.
By contrast, other investigators hypothesized that progressive childhood encephalopathy through a neurodegenerative pathway is an important etiological factor in ASD pathogenesis (Kern et al., 2013). In support of their hypothesis, these investigators described that on a clinical basis a significant number of children diagnosed with an ASD were observed to undergo developmental regression manifested by a loss of verbal
Janet K. Kern,
David A. Geier,
Kristin G. Homme,
Mark R. Geier
Acta Neurobiologiae Experimentalis , ISSUE 1, 66–75
(mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), KSS (Kearns-Sayre syndrome), NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa and ptosis). The authors emphasize importance of comprehensive neuropsychological assessment in differential diagnosis of MIDs. Conclusion. Mild and selective cognitive impairment was identified. The type and degree of cognitive function impairment is not sufficient to diagnose dementia in this particular case of MERRF. Comprehensive
Emilia J. Sitek,
Journal of Epileptology , ISSUE 1, 69–74
Journal of Epileptology , ISSUE 2, 71–87
spectrum of GLUT1-DS is known to be a continuum between the classic phenotype and the dystonia 18, atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings (ataxia, choreoathetosis, dystonia, and alternating hemiplegia).
The most severe GLUT1-DS type 1 is characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination and spasticity (Brockmann, 2017; De Giorgis, Veggiotti, 2013). The
Journal of Epileptology , 49–54
research. Methods. All of our previously published and unpublished data were reviewed in order to investigate the pathophysiology of LGS and using PubMed database for relevant literature. Results and Discussion. While LGS usually occurs in infancy, it has become apparent that there is a form of late-onset LGS (L-LGS) that may occur at age eight or older. L-LGS often occurs when there is a history of encephalitis/encephalopathy or status epilepticus. The long-term progression of LGS includes mainly
Journal of Epileptology , ISSUE 1, 7–23