Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

BACKGROUND: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. METHODS: The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites. RESULTS: Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures. CONCLUSION: The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

Depression and quality of life in a community-based glaucoma-screening project.

OBJECTIVE: To identify the prevalence and risk factors of depression among individuals given a glaucoma-related diagnosis at a screening program. DESIGN: Cross-sectional community-based in a university hospital. PARTICIPANTS: Volunteers from a community glaucoma-screening program. METHODS: After collecting sociodemographic information, participants were administered the Geriatric Depression Scale-15 (GDS-15) and the National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25). RESULTS: Participants were predominantly African American (73.5%), older than 65 years (65.7%), single (75.4%), and female (66.8%). Among 268 participants, 89 were diagnosed with glaucoma and 179 as glaucoma suspects. The frequency of depression among the glaucoma and glaucoma suspect participants was 18% and 16.2%, respectively. The mean GDS-15 score was 2.4 ± 2.7 with no difference between glaucoma and glaucoma suspect groups, p = 0.654. The mean VFQ-25 score was 78.6 ± 15.9 and was lower in glaucoma (74.7 ± 19.7) than glaucoma suspect participants (80.4 ± 13.6), p = 0.003. Risk factors for depression included difficulties with paying expenses (p = 0.017), Asian race (p < 0.001), and poorer scores on the VFQ-25 subscales of "General Health" (p < 0.001), "Distance Activities" (p = 0.024), and "Dependency" (p = 0.001). CONCLUSIONS: Prevalence of depression in those diagnosed with glaucoma or glaucoma suspect was higher than previous estimates of the general population. Glaucoma-screening programs might benefit from including depression-screening protocols along with referral services or low-cost treatments of depression.