Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity

Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease beginning with facial and shoulder girdle weakness with variable progression. Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been found in association with FSHD. Methods In this retrospective study, muscle affectedness severity was rated as mild, moderate, or severe by a neurologist masked to the retinal images. Three ophthalmologists masked to disease severity graded the degree of arterial and venous tortuosity on a scale of 1 to 4. An automated method estimated an index of tortuosity for arteries and veins from color fundus photographs. Spearman rank correlation coefficients were used to describe the relationship between retinal vessel tortuosity and disease severity. Results Seven patients with an average age of 13 years (range, 7-36 years) were selected. Correlation between the subjective tortuosity for arteries, and the severity of FSHD was 0.78 (p = 0.039). The correlation coefficient for venous tortuosity was −0.06 and was not significant (p = 0.882). The correlation coefficient between the average algorithmic computer-generated tortuosity indices for arteries and FSHD severity was high (0.85, p = 0.016), but for veins it was low and not significant (0.19, p = 0.662). Conclusions The authors of previous reports have shown retinal vascular abnormalities did not correlate to FSHD disease severity. Our results suggest a correlation between the tortuosity of arteries and the severity of disease in FSHD patients. These results suggest the tortuosity of arteries can serve as a biomarker of severity of disease in these FSHD patients, either as determined by human experts or by an automated method

Key Words: pediatric, stroke, psychopathology

Strokes occur during fetal development and at other points in childhood Studies of behavioral and emotional features of children with documented unilateral stroke lesions are rare. Trauner et al. (1996), demonstrated that, regardless of hemispheric involvement, children with focal stroke lesions had higher T scores (indicating greater abnormality) than controls on scales measuring social competence and emotional, behavioral, cognitive, and academic development. Frontal lesions apparently accounted for the cognitive deficits, whereas posterior lesions were more likely to be associated with social problems. Several milestones in neuropsychiatric research influenced the present study's design. First, the Isle of Wight epidemiological study Second, two psychiatric studies directly compared children who had nontraumatic brain disorders with children who had non-CNS chronic disorders ABSTRACT Objectives: To determine the rate, types, and correlates of psychiatric disorder (PD) following stroke and orthopedic disorders in children and adolescents. Method: Children aged 5 to 19 were assessed. The study used a cross-sectional design that compared 29 stroke subjects with 29 congenital clubfoot or scoliosis subjects. Assessments of psychiatric status; cognitive, adaptive, academic, and family functioning; family psychiatric history; neuroimaging; and neurological status were conducted. The main outcome measure was a current PD not present before the stroke or orthopedic disorder. Results: Poststroke PD occurred significantly more often than postorthopedic diagnosis PD (17/29 [59%] versus 4/29 [14%], p ≤ .001). Subjects with ongoing poststroke PD had significantly more impaired intellectual and adaptive functioning, higher intensity family psychiatric history scores, and tended toward higher neurological severity index scores, but they were not different regarding lesion volume or family functioning compared with stroke subjects without PD. Regression analyses showed that neurological severity and family psychiatric history independently contributed significantly to predicting PD. Conclusions: The data suggest that there are significant biopsychosocial correlates of PD in children with focal neurological lesions. These include a relatively abnormal neurological exam, lower IQ, and increased family psychopathology