"You only have one mother!": institutional violence in experiences of double motherhood in healthcare.

The objective was to understand experiences of double motherhood during antenatal, childbirth and postpartum healthcare, using a qualitative method involving individual online interviews and asynchronous, online focus groups of cisgender women, mostly in same-sex relationships. The results revealed how these women's experiences of parenting were marginalised, highlighting institutional violence in Brazilian healthcare services, which are presented here in two thematic dimensions: 1) Cisheteronormativity and its impact on experiences of double motherhood; and 2) Institutional violence in healthcare services: from curiosity to LGBTQIA+phobia. It was concluded that cisheteronormativity hinders healthcare for these experiences, especially by rendering the non-gestational mother invisible.

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ().

Background And Objectives: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials.

Methods: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic variant and (2) ID and/or autism spectrum disorder.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense variant in ATP1A3 encoding the catalytic α3 subunit of neuronal NaK ATPases. The remainder of the patients are genetically unexplained.

Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1-Developmental and epileptic encephalopathy and optic pathway glioma.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the central nervous system (CNS) and are particularly at risk for optic pathway gliomas (OPG). Epilepsy is another recognized neurologic complication in patients with NF1, with a prevalence estimated between 4% and 14%.