The pathophysiology of D/EE-SWAS has traditionally been conceptualized as a cause–effect continuum wherein genetic and environmental factors influence brain morphology, subsequently inducing electrical abnormalities during sleep, resulting in cognitive impairment. A network-based perspective could play a key role towards a comprehensive understanding of this complex condition, allowing the reframing of each individual element in its dynamic interactions with neurodevelopmental processes.
Childhood cerebral adrenoleukodystrophy (CCALD) can present as a first-time seizure early enough in the disease course to allow for disease-modifying therapy. Seizure severity correlates with disease burden on MRI (Loes ≥6) and more advanced clinical symptoms. The prevalence of seizures in CCALD appears higher than previously recognized, indicating that X-linked adrenoleukodystrophy should be in the differential diagnosis for males presenting with first-time seizure.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal transmission, and metabolic dysfunction. Evidence for ACTH/corticosteroids altering these processes is limited. IESS likely involves interacting processes affecting neurodevelopment. Understanding aetiopathogenic mechanisms further may lead to improved therapies and outcomes.
GMFM-66-IS scores were supported by strong construct validity and moderate responsiveness evidence for use with infants and toddlers at high risk for CP.
This systematic review examines the issue of bone health in adults with cerebral palsy. Skeletal fragility is highest in adults with poor functional state, nutritional deficits and anticonvulsant use.
This systematic review examined the association and diagnostic accuracy of MRI acquired < 36 weeks postmenstral age to detect cerebral palsy and other adverse motor outcomes at or beyond 3 years corrected age in infants born preterm.
Viral nucleic acid recognition induces a physiological type I interferon mediated innate immune response. In some cases of Aicardi-Goutières syndrome, this same response is proposed to be triggered by self-derived nucleic acid generated through reverse transcription. Here, reverse transcriptase inhibitors were assessed in such cases.
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