Pediatric intracranial hypertension: A review of presenting symptoms, quality of life, and secondary causes.

Ataxia telangiectasia is a rare autosomal recessive inherited disorder that arises from pathogenic variants in both copies of the (ataxia‐telangiectasia mutated) gene, which is located on chromosome 11q22.3 []. The gene encodes a kinase protein that regulates cellular stress responses by phosphorylating numerous downstream targets. These targets are involved in DNA damage recognition and repair, regulation of RNA splicing, mitochondrial and metabolic signaling, maintenance of redox balance, and defense against oxidative stress, among other essential pathways []. When activity is absent or severely impaired, a wide spectrum of clinical features emerges. The neurological manifestations include progressive cerebellar ataxia, impaired eye movements (oculomotor apraxia), slurred speech (dysarthria), and involuntary movements. Characteristic vascular changes appear in the eyes and skin as telangiectasias. Affected individuals frequently have T‐ and B‐cell immune dysfunction leading to recurrent infections and chronic respiratory disease. Additional features include growth faltering, delayed sexual maturation, marked sensitivity to ionizing radiation, and an increased risk of malignancy due to underlying genomic instability [, , ]. Walking ability, which is crucial for mobility, well‐being, and quality of life for children and adults, declines prematurely in people with ataxia telangiectasia [, , ]. Ambulation allows for independence in exploring the environment, which is important for the cognitive, emotional, and social development of a child [, ]. Loss of the ability to walk is relatively easy to measure and represents a meaningful clinical and research endpoint. However, in ataxia telangiectasia, data on walking capacity loss are scarce. Symptoms of the disease have historically been described and measured using comprehensive ataxia scales, in which walking capacity represents only one component of the overall score.