- Vigabatrin therapy for infantile epileptic spasms syndrome with periventricular leukomalacia. [Journal Article]Brain Dev. 2026 Jul 20; 48(4):104574. [Online ahead of print]BD
- CONCLUSIONS: Vigabatrin was effective for treating 42.8% of our patients with both IESS and PVL. Vigabatrin was well tolerated, with only a mild effect observed in patients with IESS and PVL. Some treatment-related ERG abnormalities were normalized after vigabatrin was reduced or stopped.
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- Natural history of a cohort of children with type 2 spinal muscular atrophy from southern India - A retrospective single-centre study. [Journal Article]Brain Dev. 2026 Jul 20; 48(4):104575. [Online ahead of print]BD
- CONCLUSIONS: Our results align with earlier studies indicating that disease progression in type 2 SMA varies among children, highlighting its heterogeneous nature.
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- Associations of muscle thickness and echo intensity with pneumonia onset in patients with severe cerebral palsy: a longitudinal study. [Journal Article]Brain Dev. 2026 Jul 14; 48(4):104571. [Online ahead of print]BD
- CONCLUSIONS: These findings suggest that low IO MT may help identify patients with severe CP at risk of pneumonia onset.
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- Associations between patterns of diffusion-weighted magnetic resonance imaging and long-term outcomes in acute encephalopathy with biphasic seizures and late reduced diffusion. [Journal Article]Brain Dev. 2026 Jul 14; 48(4):104572. [Online ahead of print]BD
- CONCLUSIONS: Acute-phase MRI findings in AESD were associated with long-term neurological outcomes. Lesion distribution and deep white matter extension may serve as potential prognostic factors. Frontal BTA-E and Rolandic BTA-E were associated with cognitive impairment and motor paralysis, respectively.
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- Clinical practices in prehospital rescue medication use for pediatric status epilepticus in Japan: a nationwide questionnaire survey. [Journal Article]Brain Dev. 2026 Jul 11; 48(4):104573. [Online ahead of print]BD
- CONCLUSIONS: Prehospital rescue medication prescribing is primarily guided by seizure duration rather than diagnostic categories. Variability in caregiver instructions highlights the need for clearer guidance to optimize prehospital seizure management.
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- Reply to the letter: Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome. [Journal Article]Brain Dev. 2026 Jul 08; 48(4):104569. [Online ahead of print]BD
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- Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases. [Journal Article]Brain Dev. 2026 Jul 08; 48(4):104570. [Online ahead of print]BD
- CONCLUSIONS: Our findings underscore RNU4-2 as a major cause of NDDs in ES-negative cases and further delineate the phenotypic spectrum of ReNU syndrome. Recognition of the characteristic "lip and philtrum gestalt" serves as a vital clinical clue, prompting targeted genetic evaluation for this frequently overlooked disorder.
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- Association of relative age with medical consultations for developmental concerns: A nationwide birth cohort study in Japan. [Journal Article]Brain Dev. 2026 Jul 03; 48(4):104568. [Online ahead of print]BD
- CONCLUSIONS: In this Japanese cohort, being born in the relatively younger months of the academic year was significantly associated with a higher frequency of medical consultations for developmental concerns. The findings suggest that relative age may serve as a contextual factor in the process of seeking medical advice, although whether this reflects true differences in clinical need or misattribution of normal immaturity remains to be elucidated. Clinicians should consider relative age when evaluating children for developmental concerns.
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- Extending the combined N-back/Nogo paradigm: Toward subtype-sensitive and translationally meaningful ERP research in ADHD. [Letter]Brain Dev. 2026 Jul 03; 48(4):104566. [Online ahead of print]BD
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- Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome. [Letter]Brain Dev. 2026 Jul 01; 48(4):104567. [Online ahead of print]BD
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- From weather stations to the home environment: Refining seizure prediction in pediatric drug-resistant epilepsy. [Letter]Brain Dev. 2026 Jun 25; 48(4):104562. [Online ahead of print]BD
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- Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes. [Journal Article]Brain Dev. 2026 Jun 24; 48(4):104565. [Online ahead of print]BD
- CONCLUSIONS: Pediatric GBS with myelitis frequently presents with severe neurological involvement. Although combination immunotherapy demonstrates efficacy, the severe subgroup shows significant residual morbidity. Early aggressive intervention is warranted to mitigate long-term disability.
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- Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study. [Journal Article]Brain Dev. 2026 Jun 22; 48(4):104564. [Online ahead of print]BD
- CONCLUSIONS: Taken together, this study enhances our understanding of the genetic background of Canavan disease among the Iranian population. We propose functional assays or cohort studies for unresolved classifications.
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- Third nationwide survey of bilirubin encephalopathy in preterm infants in Japan. [Journal Article]Brain Dev. 2026 Jun 20; 48(4):104561. [Online ahead of print]BD
- CONCLUSIONS: The clinical characteristics of pBE were consistent across the three surveys. Infants with pBE had severely impaired gross motor function but relatively preserved manual function and verbal communication. MRI and ABR findings can aid in the diagnosis of pBE.
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- Urine protein/osmolality and creatinine/osmolality ratios for assessing proteinuria and motor function in children with spinal muscular atrophy. [Journal Article]Brain Dev. 2026 Jun 20; 48(4):104563. [Online ahead of print]BD
- CONCLUSIONS: The UPr/Osm test may be a reliable alternative for assessing proteinuria in patients with SMA. UCr/Osm may also be associated with motor function in patients with later-stage SMA.
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