Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Objective: PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described.

Fetal myelomeningocele diagnosed in the antenatal period: Maternal-fetal characteristics and their relationship with pregnancy decision-making.

Background: Spina bifida is the most common fetal anomaly of the central nervous system, which affects approximately 1:1000 live births in the United States. Myelomeningocele (MMC) is the most common presentation of spina bifida, representing half of these cases. Given the deformation to the spinal cord and the nerve roots, this defect may result in significant morbidity to infants and major life-long disabilities.