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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.

Verschlimmbesserung: Craniospinal Radiotherapy Is Essential in WNT Medulloblastoma Patients

Standard-risk WNT medulloblastoma patients have an excellent prognosis using the combination of standard dose craniospinal radiotherapy (CSI) followed by platinum and alkylator based chemotherapy. A recent pilot study that attempted to completely omit radiotherapy was terminated early as all patients relapsed rapidly. The study highlights that therapy is the most important prognostic factor, with CSI still required to cure even the most favorable subgroup of medulloblastoma patients.

The Positive Aspects of Being the Parent of a Trans Child: Findings from Trans Pathways

The existing literature exploring the experiences of parenting a trans child tends toward reporting the challenging aspects of the parental journey. Studies also reference positive experiences such as enhanced parent-child connectedness and affirmation of personal values. Limited dedicated research focused on the positive aspects of parenting a trans child exists. We aimed to better understand positive parental experiences accordingly.