Quality of Life of Primary Caregivers of Children With Cerebral Palsy From a Family Perspective.

Background: Cerebral palsy is a heterogeneous group of permanent non-progressive disorders affecting the development of movement and posture, varying in severity, interfering with daily activity, and associated with multiple . Previous studies in different regions of Saudi Arabia have shown links between caregivers' mental health and children's well-being. However, the lack of such research in the Tabuk region necessitates the development of a new survey to assess caregivers' quality of life in this specific area.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects.