Objective: We investigated whether the cerebellum plays a critical or supportive role in in executive and emotion processes in adults. Many investigators now espouse the hypothesis that participants with cerebellar lesions experience executive functions and emotions (EE) disorders. But we hypothesized that these disorders would be milder if the damage is relatively limited to the cerebellum compared to damage involving the cerebellum plus additional cortical areas.Methods: We studied veterans with penetrating Traumatic Brain Injury (pTBI) participating in the Vietnam Head Injury Study (VHIS). We selected veterans with a cerebellar lesion (n = 24), a prefrontal cortex lesion (n = 20), along with healthy controls (HC) (n = 55). Tests of executive functions and emotions were analyzed as well as caregiver burden. We performed between-group null hypothesis significance testing, Bayesian hypothesis tests and correlational analyses.Results: Performance of participants with cerebellar lesions which extended to the cerebral cortex was similar to the HC on the Executive Function tests but they were significantly impaired on the Working Memory Index. No differences were found on the emotional processing tasks with one exception—the Facial Expression of Emotion-Test (FEEST). We then examined a sub-group of participants with large cerebellar lesions (>15%) but minimal lesions in the cerebral cortex (<15%). This sub-group of participants performed similarly to the HC on the Working Memory Index and on the FEEST.Conclusions: We suggest that the cerebellar cortex may not be critical for executive functions or processing emotional stimuli in adults as suggested. Instead, we find that the cerebellum has a supportive role characterized by its computing of the motor requirements when EE processing is required.

This is a retrospective study conducted on patients with OPG, aged less than 19 years, treated with bevacizumab as a single agent, since 2010 at IHOPe (Institute of Pediatric Hematology and Oncology). Efficacy of the treatment was evaluated on the tumor response rate on MRI with a centralized review basing upon RAPNO criteria and with visual assessment basing upon a 0.2 log change in the logMAR scale. Thirty-one patients with OPG have been included. From a radiological point of view, best anytime responses were: 1 major response, 6 partial responses, 7 minor responses and 14 stable diseases; achieving disease control in 28 (96%) out of 29 patients. Ophthalmological response was evaluated in 25 patients and disease control was achieved in 22 (88%) out of 25, with 14 steady states and 8 significant improvements. Among patients treated with chemotherapy after the bevacizumab course, nine relapsed and have been retreated with objective responses. Bevacizumab used as single agent seems effective in children and adolescents with OPG. Our work paves the way for a phase II study in which bevacizumab alone could be used as frontline therapy.

Low-grade gliomas are among the most common CNS lesions in pediatrics and surgery is often the first-line treatment. Intraoperative tools have been developed to maximize the results of surgery, and in particular dyes such as sodium fluorescein (SF) have been investigated in high-grade adult lesions. The use of SF in pediatric low-grade gliomas is still unclear. We retrospectively reviewed 22 pediatric CNS low-grade gliomas operated on with SF from September 2021 to October 2022. A total of 86% of lesions showed SF uptake, which was helpful intraoperatively (confirmation of initial localization of the tumor, or identification of tumor remnants) in 74% of them. The intraoperative fluorescence seems associated with gadolinium enhancement at the preoperative MRI. Interestingly, the extemporaneous pathological sampling (EPS) was informative in every case showing SF uptake, whereas in cases without SF uptake, the EPS was non-informative, although the tissue was later confirmed as pathological. These findings highlight the interest of SF for perioperative diagnosis of tumor tissue and may suggest in which cases the differentiation of tumor–healthy tissue could be especially blurred, posing difficulties for the pathologist.

Background: Some pathogenic variants in Smad6 are implicated in midline craniosynostosis, particularly in metopic synostosis. These variants increase the risk of both nonsyndromic and syndromic presentations. Craniosynostosis, whether treated surgically or not, can be associated with developmental delays. Methods: The authors aimed to assess developmental outcomes in children with craniosynostosis carrying a Smad6 variant. A cohort of children who underwent craniosynostosis surgery at the national reference center for craniosynostosis at Lyon University Hospital (2018–2023) was studied. Children with Smad6 variants were followed postsurgery to evaluate their neuropsychological development. Evaluations were conducted by a multidisciplinary team comprising neurosurgeons, clinical geneticists, and neuropsychologists. Results: Among 249 patients with craniosynostosis, 11 were identified with Smad6 variants. Of these, 7 presented with trigonocephaly, 2 with scaphocephaly, and 2 with oxycephaly. Patients with SMAD6 gene variants followed by the department were between 18 and 121 months, with a sex ratio of 6 girls to 5 boys. None of these children exhibited cardiac abnormalities. Mild walking and/or language acquisition delays are observed in 8 children, 5 of them benefit from ambulatory-specific care, and only one cannot benefit from a normal schooling. Conclusion: Neuropsychological follow-up is crucial for children with craniosynostosis. Most patients with SMAD6 variants show mild to moderate effects, with developmental scores normalizing with appropriate therapies. However, the impact of Smad6, especially in cases with additional variants, requires further study. Early intervention remains key to optimizing cognitive and behavioral outcomes.

The BMP pathway is one of the major signaling pathways in embryonic development, ontogeny and homeostasis, identified many years ago by pioneers in developmental biology. Evidence of the deregulation of its activity has also emerged in many cancers, with complex and sometimes opposing effects. Recently, its role has been suspected in Diffuse Midline Gliomas (DMG), among which Diffuse Intrinsic Pontine Gliomas (DIPG) are one of the most complex challenges in pediatric oncology. Genomic sequencing has led to understanding part of their molecular etiology, with the identification of histone H3 mutations in a large proportion of patients. The epigenetic remodeling associated with these genetic alterations has also been precisely described, creating a permissive context for oncogenic transcriptional program activation. This review aims to describe the new findings about the involvement of BMP pathway activation in these tumors, placing their appearance in a developmental context. Targeting the oncogenic synergy resulting from this pathway activation in an H3K27M context could offer new therapeutic perspectives based on targeting treatment-resistant cell states.