Sequential testing with brief cognitive tools has been recommended to improve cognitive screening and monitoring, however the few available tools still depend on an external evaluator and periodic visits. We developed a self-administered computerized test intended for longitudinal cognitive testing (Brain on Track). The test can be performed from a home computer and is composed of several subtests, expected to evaluate different cognitive domains, all including random elements to minimize learning effects. An initial (A) and a refined version of the test (B) were applied to patients with mild cognitive impairment or early dementia (n = 88) and age and education-matched controls. A subsample of a population-based cohort (n = 113) performed the test at home every three months to evaluate test-retest reliability. The test’s final version Cronbach’s alpha was 0.90, test scores were significantly different between patients and controls (p = 0.001), the area under the receiver operating characteristic curve was 0.75 and the smallest real difference (43.04) was lower than the clinical relevant difference (56.82). In the test-retest reliability analysis 9/10 subtests showed two-way mixed single intraclass consistency correlation coefficient >0.70. These results imply good internal consistency, discriminative ability and reliability when performed at home, encouraging further longitudinal clinical and population-based studies.

Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%. Spirometry was available for 94 patients; 41.5% had abnormal results with a restrictive pattern in 38.3% patients. There was a correlation between FVC; CSS score and D4Z4 fragment length with a higher probability of severe respiratory involvement in the early onset group, moderate/severe disease and D4Z4 fragments <18 kb. Patients with severe respiratory involvement showed a high prevalence of sleep-disordered breathing. FVC decline over time was indicative of three progression groups. Respiratory involvement for both ambulant and non-ambulant patients with FSHD is more frequent and severe than previously suggested. Sleep-disordered breathing is frequent and negatively influences the respiratory status. Annual screening of the respiratory status with spirometry and clinical assessment is thus warranted in FSHD patients, even while ambulant.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-017-8525-9) contains supplementary material, which is available to authorized users.

Background: Vascular disease may play an important role in the epidemiology of dementia in countries with high stroke incidence, such as Portugal. Objective: To assess the prevalence and etiology of cognitive impairment in a population-based cohort from Portugal. Methods: Individuals 55 years (n ¼ 730) from the EPIPorto cohort were assessed using the Mini-Mental State Examination and the Montreal Cognitive Assessment. Those scoring below the age-/education-adjusted cutoff points were further evaluated to identify dementia or mild cognitive impairment (MCI) and to define its most common causes. Results: Thirty-six cases of MCI/dementia were identified, corresponding to adjusted prevalences of 4.1% for MCI and 1.3% for dementia. The most common cause of MCI/dementia was vascular (52.8%), followed by Alzheimer's disease (36.1%). Conclusion: These findings highlight the importance of vascular cognitive impairment in the epidemiology of dementia in Portugal and carry an important public health message regarding its prevention and management, possibly extending to other countries with a highstroke burden.

No abstract

No abstract

Editor So-called histiocytic (epithelioid) infiltrates occur in the skin as a secondary event, as the result of an underlying infection, dyslipidaemia or neoplasm, or as a primary proliferation of macrophages. In the latter, they can be divided into Langerhans cell disease (LCD) and non-LCD (n-LCD).

No abstract

Background: Anti-NMDAR encephalitis is the best-characterized and most common antibody-mediated encephalitis. With early aggressive immunosuppression, prognosis is usually good, although recurrences have been reported in up to 20-25% of patients, mostly in patients without teratoma. Guidelines for the best medical management are still lacking, especially concerning its duration, the comparative efficacy of individual treatments and the role of corticoid-sparing agents. It is also unclear if tumors should be sought after an initial negative screening in males and females younger than 18. Case report:We report the case of a 30-month boy with previous speech delay, who presented with insidious onset of irritability, asymmetric dystonia and chorea, sleep disturbance and consciousness fluctuations. Infections and metabolic disturbances were excluded. NMDAR antibodies were identified in serum and CSF. MRI showed right insular and frontal cortex T2-hyperintensity. Tumor screening was negative. He was initially treated with metilprednisolone pulses and IVIG and then kept on monthly IVIG and prednisolone 1mg/Kg/day, followed by slowly tapering after 2 months of sustained clinical improvement. Follow-up MRI disclosed some brain atrophy and the patient remains with a significant speech delay after 5 months. Despite the good response to first-line treatments, as in this case, steroid side effects in children may be severe and irreversible. On the other hand, quick withdrawal may compromise recovery and increase relapse probability, especially in cases without associated tumor. Conclusions:This case is illustrative of the difficulties faced by clinicians in the long-term management of NMDAR-encephalitis, namely in respect to the need and best choice of second-line treatments. Citation: Moreira et al. Long-term management of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in young children-still a matter of debate. Abstract NMDAR encephalitis in young children 2 ARC Publishing