RESUMEN
Importance: Studies of brain imaging and movements during REM sleep indicate basal ganglia involvement in pediatric acute-onset neuropsychiatric syndrome (PANS). Characterizing neurological findings commonly present in patients with PANS could improve diagnostic accuracy. Objective: To determine the prevalence of neurological soft signs which may reflect basal ganglia dysfunction (NSS-BG) in youth presenting with PANS and whether clinical characteristics of PANS correlate with NSS-BG. Design, Setting, and Participants: 135 new patients who were evaluated at the Stanford Children's Immune Behavioral Health Clinic between November 1, 2014 and March 1, 2020 and met strict PANS criteria were retrospectively reviewed for study inclusion. 16 patients were excluded because they had no neurological exam within the first three visits and within three months of clinical presentation. Main Outcomes and Measures: The following NSS-BG were recorded from medical record review: 1) glabellar tap reflex, 2) tongue movements, 3) milkmaid's grip, 4) choreiform movements, 5) spooning, and 6) overflow movements. We included data from prospectively collected symptoms and impairment scales. Results: The study included 119 patients: mean age at PANS onset was 8.2 years, mean age at initial presentation was 10.4 years, 55.5% were male, and 73.9% were non-Hispanic White. At least one NSS-BG was observed in 95/119 patients (79.8%). Patients had 2.1 NSS-BG on average. Patients with 4 or more NSS-BG had higher scores of global impairment (p=0.052) and more symptoms (p=0.008) than patients with 0 NSS-BG. There was no significant difference in age at visit or reported caregiver burden. On Poisson and linear regression, the number of NSS-BG was associated with global impairment (2.857, 95% CI: 0.092-5.622, p=0.045) and the number of symptoms (1.049, 95% CI: 1.018-1.082, p=0.002), but not age or duration of PANS at presentation. Conclusions and Relevance: We found a high prevalence of NSS-BG in patients with PANS and an association between NSS-BG and disease severity that is not attributable to younger age. PANS may have a unique NSS-BG profile, suggesting that targeted neurological exams may support PANS diagnosis.
RESUMEN
Although genetic testing can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test to at-risk relatives. A sample of 200 participants from Nevada (100 physicians, 100 non-physicians) completed an 11-item questionnaire asking demographic information, familiarity with genetics and genetic testing, and opinions about a physician's role in a hypothetical case in which a patient does not wish to communicate her BRCA1 mutation to her sister. Although most respondents did not think the physician should notify the sister against the patient's wishes, more non-physicians (40%) than physicians (23%) contended that the physician should do so (p = 0.0119). Most respondents from both groups agreed that the physician should not have the legal duty to notify the sister, would not be morally justified in sharing genetic test results with the sister, but should have the right to notify a patient's relatives if the disease is "serious, preventable, and treatable." More non-physicians than physicians agreed that physicians should have an educational requirement on how to communicate genetic test results to patients and their family (88% vs 65%, p = 0.0002). Most physicians (70%) reported a familiarity/strong familiarity with genetic testing compared to non-physicians (33%; p < 0.0001). Future qualitative research should assess physicians' understanding of issues surrounding familial communication of genetic test results. Educational interventions to facilitate effective communication to patients and families are needed and welcomed by most physicians. Discrepancies between the attitudes of physicians and patients or the public need to be better understood and addressed.