Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity
Fig 6
Clinical outcome scores based on symptom analyses of patient case reports.
[A] Distribution of Clinical Outcomes Scores as a measure of disease severity in 74 patients based on quantitative determination of major symptomatic domains of seizures, muscle/movement control, cognition, and brain malformations as presented in Tables 4 and 5. The bulk of patient scores ranged from 2–9 although two patients showed scores of 12. Scores above five were designated severe, yielding 29 patients with severe disease, 43 with attenuated disease, and 2 who were asymptomatic. [B] Gender distribution of COS Scores. Of the 74 patients, 40 were male and 34 were female. Male and female patients had similar distributions of severe and attenuated scores, suggesting COS reveals no gender preference. [C] Age distribution. Examination of COS scores as a function of age for both males and females suggests that severe disease is dominant in patients < 5 years old.