Epilepsy surgery below the age of 5 years: Are we still in time to preserve developmental and intellectual functions?

Objective: The aim of this study is to describe the pre- and post-operative developmental and intellectual functions in a cohort of patients who underwent surgery for drug-resistant epilepsy (DRE) before the age of 5 years.

Method: We retrospectively reviewed the medical records and neurodevelopmental assessments of a cohort of 80 surgically treated pediatric patients with DRE. We included patients if they had at least one pre- and one post-surgical neuropsychological assessments; 27 met the inclusion criteria.

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.

CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732), characterized by facial dysmorphisms, seizures, intellectual disability, and behavioral disturbances. We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome associated with heterozygous variants of CSNK2B.

Cross-Cultural Adaptation and Preliminary Validation of Upper Limb Lymphedema Quality of Life Questionnaire (ULL-27) in Italian Female Patients with Breast Cancer-Related Lymphedema.

Lymphedema is one of the most recurrent problems reported by breast cancer survivors, which negatively affects quality of life (QoL). The Upper Limb Lymphedema Quality of Life Questionnaire (ULL-27) is a tool that assesses the QoL in patients with breast cancer-related lymphedema. At present, an Italian adaptation does not exist.