Cognition in Childhood Dystonia:A systematic review

Background and aim: Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims at presenting an overview over the existing literature to elucidate the cognitive profile of primary and secondary childhood dystonia. Method: Studies focusing on cognition in childhood dystonia were searched in MEDLINE and PsychInfo up to October 2017. We included studies on idiopathic and genetic forms of dystonia as well as dystonia secondary to cerebral palsy and inborn errors of metabolism. Results: Thirty-four studies of the initial 527 were included. Studies for primary dystonia showed intact cognition and IQ but mild working memory- and processing speed deficits. Studies on secondary dystonia showed more pronounced cognitive deficits and lower IQ scores with frequent mental retardation. Data are missing for attention, language, and executive functioning. Interpretation: This review shows possible cognitive impairments in childhood dystonia. The severity of cognitive impairment seems to intensify with increasing neurological abnormalities. However, the available data on cognition in childhood dystonia are very limited and not all domains have been investigated yet. This underlines the need for future research using standardized neuropsychological procedures in this group

Association of STAT4 with rheumatoid arthritis:A replication study in three European populations

OBJECTIVE: This study was undertaken to investigate the previously reported association of the STAT4 polymorphism rs7574865 with rheumatoid arthritis (RA) in 3 different European populations from Spain, Sweden, and The Netherlands, comprising a total of 2,072 patients and 2,474 controls. METHODS: Three different cohorts were included in the study: 923 RA patients and 1,296 healthy controls from Spain, 273 RA patients and 285 healthy controls from Sweden, and 876 RA patients and 893 healthy controls from The Netherlands. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the STAT4 single-nucleotide polymorphism rs7574865 using a TaqMan 5'-allele discrimination assay. The chi-square test was performed to compare allele and genotype distributions. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. RESULTS: We observed a significantly increased frequency of the minor T allele in RA patients compared with healthy controls in the Spanish population (24.8% versus 20.8%; P = 0.001, OR 1.26 [95% CI 1.09-1.45]). This association was confirmed in both the Swedish population (P = 0.03, OR 1.35 [95% CI 1.03-1.77]) and the Dutch population (P = 0.03, OR 1.45 [95% CI 1.21-1.73]). The overall P value for all 3 populations was 9.79 x 10(-6) (OR 1.25 [95% CI 1.13-1.37]). No association between rs7574865 and the presence of rheumatoid factor or anti-cyclic citrullinated peptide autoantibodies was observed. A meta-analysis of all published STAT4 associations revealed an OR of 1.25 (95% CI 1.19-1.33) (P = 1 x 10(-5)). CONCLUSION: Our findings indicate an association between the STAT4 polymorphism rs7574865 and RA in 3 different populations, from Spain, Sweden, and The Netherlands, thereby confirming previous data

Expedition 361 summary

International Ocean Discovery Program Expedition 361 drilled six sites on the southeast African margin (southwest Indian Ocean) and in the Indian-Atlantic Ocean gateway, from 30 January to 31 March 2016. In total, 5175 m of core was recovered, with an average recovery of 102%, during 29.7 days of on-site operations. The sites, situated in the Mozambique Channel at locations directly influenced by discharge from the Zambezi and Limpopo River catchments, the Natal Valley, the Agulhas Plateau, and Cape Basin, were targeted to reconstruct the history of the greater Agulhas Current system over the past ~5 My. The Agulhas Current is the strongest western boundary current in the Southern Hemisphere, transporting some 70 Sv of warm, saline surface water from the tropical Indian Ocean along the East African margin to the tip of Africa. Exchanges of heat and moisture with the atmosphere influence southern African climates, including individual weather systems such as extratropical cyclone formation in the region and rainfall patterns. Recent ocean model and paleoceanographic data further point at a potential role of the Agulhas Current in controlling the strength and mode of the Atlantic Meridional Overturning Circulation (AMOC) during the Late Pleistocene. Spillage of saline Agulhas water into the South Atlantic stimulates buoyancy anomalies that may influence basin-wide AMOC, with implications for convective activity in the North Atlantic and global climate change. The main objectives of the expedition were to establish the role of the Agulhas Current in climatic changes during the Pliocene–Pleistocene, specifically to document the dynamics of the Indian-Atlantic Ocean gateway circulation during this time, to examine the connection of the Agulhas leakage and AMOC, and to address the influence of the Agulhas Current on African terrestrial climates and coincidences with human evolution. Additionally, the expedition set out to fulfill the needs of Ancillary Project Letter number 845, consisting of high-resolution interstitial water sampling to help constrain the temperature and salinity profiles of the ocean during the Last Glacial Maximum. The expedition made major strides toward fulfilling each of these objectives. The recovered sequences allowed generation of complete spliced stratigraphic sections that range from 0 to between ~0.13 and 7 Ma. This sediment will provide decadal- to millennial-scale climatic records that will allow answering the paleoceanographic and paleoclimatic questions set out in the drilling proposal

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Although movement disorders (MDs) are known complications, the exact frequency and severity remains uncertain in patients with classical galactosemia, especially in children. We determined the frequency, classification and severity of MDs in a cohort of pediatric and adult galactosemia patients, and assessed the association with nonmotor neuropsychological symptoms and daily functioning. Patients from seven centers in the United Kingdom and the Netherlands with a confirmed galactosemia diagnosis were invited to participate. A videotaped neurological examination was performed and an expert panel scored the presence, classification and severity of MDs. Disease characteristics, nonmotor neuropsychological symptoms, and daily functioning were evaluated with structured interviews and validated questionnaires (Achenbach, Vineland, Health Assessment Questionnaire, SIP68). We recruited 37 patients; 19 adults (mean age 32.6 years) and 18 children (mean age 10.7 years). Subjective self-reports revealed motor symptoms in 19/37 (51.4%), similar to the objective (video) assessment, with MDs in 18/37 patients (48.6%). The objective severity scores were moderate to severe in one third (6/37). Dystonia was the overall major feature, with additional tremor in adults, and myoclonus in children. Behavioral or psychiatric problems were present in 47.2%, mostly internalizing problems, and associated with MDs. Daily functioning was significantly impaired in the majority of patients. Only one patient received symptomatic treatment for MDs. We show that MDs and nonmotor neuropsychological symptoms are frequent in both children and adults with classical galactosemia