Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?

Andreea Nissenkorn; Yonit Levi; Daphna Vilozni; Yakov Berkun; Ori Efrati; Moshe Frydman; J Yahav; Dalia Waldman; Raz Somech; Efrat Shenhod

doi:https://doi.org/10.1016/j.jpeds.2011.02.005

doi.org/10.1016/j.jpeds.2011.02.005

Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?

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..., Efrat Shenhod

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The Journal of Pediatrics

Volume: 159, Issue: 3, Pages: 466 - 471.e1

Published: Sep 1, 2011

Abstract

To define the neurologic characteristics and course of ataxia-telangiectasia (A-T). Retrospective cross-sectional chart study of 57 children (ages 2 to 19 years) followed at an A-T clinic. Cerebellar and extracerebellar symptoms were graded according to degree of functional impairment. Head circumferences were plotted from the charts and z-scores were calculated and compared with that of family members. Ataxia was present in 87.7%, followed by...