Educational attainment of children born to mothers with epilepsy.

OBJECTIVE: Small prospective studies have identified that children exposed to valproate in utero have poorer scores on cognitive testing. We wanted to identify whether children exposed to antiepileptic drugs (AEDs) in utero have poorer school performance. METHODS: We used anonymised, linked, routinely collected healthcare records to identify children born to mothers with epilepsy. We linked these children to their national attainment Key Stage 1 (KS1) tests in mathematics, language and science at the age of 7 and compared them with matched children born to mothers without epilepsy, and with the national KS1 results. We used the core subject indicator (CSI) as an outcome measure (the proportion of children achieving a minimum standard in all subjects) and the results in individual subjects. RESULTS: We identified 440 children born to mothers with epilepsy with available KS1 results. Compared with a matched control group, fewer children with mothers being prescribed sodium valproate during pregnancy achieved the national minimum standard in CSI (-12.7% less than the control group), mathematics (-12.1%), language (-10.4%) and in science (-12.2%). Even fewer children with mothers being prescribed multiple AEDs during pregnancy achieved a national minimum standard: CSI (by -20.7% less than the control group), mathematics (-21.9%), language (-19.3%) and science (-19.4%). We did not observe any significant difference in children whose mothers were prescribed carbamazepine or were not taking an AED when compared with the control group. CONCLUSIONS: In utero exposure to AEDs in combination, or sodium valproate alone, is associated with a significant decrease in attainment in national educational tests for 7-year-old children compared with both a matched control group and the all-Wales national average. These results give further support to the cognitive and developmental effects of in utero exposure to sodium valproate as well as multiple AEDs, which should be balanced against the need for effective seizure control for women during pregnancy.

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence epilepsy (CAE) and particularly with generalised or genetic epilepsy with febrile seizures plus (GEFS+). In clinical practice, despite efforts to categorise epilepsy and epilepsy families into syndromic diagnoses, many generalised epilepsies remain unclassified with a presumed genetic basis. During the systematic collection of epilepsy families, we assembled a cohort of families with evidence of GEFS+ and screened for variations in the γ2 subunit of the γ-aminobutyric acid (GABA) type A receptor gene (GABRG2). We detected a novel GABRG2(p.R136*) premature translation termination codon in one index-case from a two-generation nuclear family, presenting with an unclassified GGE, a borderline GEFS+ phenotype with learning difficulties and extended behavioural presentation. The GABRG2(p.R136*) mutation segregates with the febrile seizure component of this family's GGE and is absent in 190 healthy control samples. In vitro expression assays demonstrated that γ2(p.R136*) subunits were produced, but had reduced cell-surface and total expression. When γ2(p.R136*) subunits were co-expressed with α1 and ß2 subunits in HEK 293T cells, GABA-evoked currents were reduced. Furthermore, γ2(p.R136*) subunits were highly-expressed in intracellular aggregations surrounding the nucleus and endoplasmic reticulum (ER), suggesting compromised receptor trafficking. A novel GABRG2(p.R136*) mutation extends the spectrum of GABRG2 mutations identified in GEFS+ and GGE phenotypes, causes GABAA receptor dysfunction, and represents a putative epilepsy mechanism.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with SGCE mutations may have an increased rate of psychiatric disorders. We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype. In all, 89 patients with clinically suspected myoclonus dystonia syndrome were recruited from the UK and Ireland. SGCE was analysed using direct sequencing and for copy number variants. In those patients where no mutation was found TOR1A (GAG deletion), GCH1, THAP1 and NKX2-1 were also sequenced. SGCE mutation positive cases were systematically assessed using standardized psychiatric interviews and questionnaires and compared with a disability-matched control group of patients with alcohol responsive tremor. Nineteen (21%) probands had a SGCE mutation, five of which were novel. Recruitment of family members increased the affected SGCE mutation positive group to 27 of whom 21 (77%) had psychiatric symptoms. Obsessive-compulsive disorder was eight times more likely (P < 0.001) in mutation positive cases, compulsivity being the predominant feature (P < 0.001). Generalized anxiety disorder (P = 0.003) and alcohol dependence (P = 0.02) were five times more likely in mutation positive cases than tremor controls. SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms.

Examining health information-seeking behaviors of older adults.

This study aims to examine which resources older adults utilize for their health information needs, how trustworthy and reliable they find these resources, and the difficulties they face in obtaining health-related information. A 41-item survey designed to understand the information-seeking characteristics of older adults was developed and distributed to retirement communities. Some items were taken from the Health Information National Trends Survey. Of 1520 surveys, 403 were returned completed (26.6%). Respondents' mean age was 77.65 years. Average scores indicated respondents trusted particular sources of health information in the following order (highest to lowest): health care providers, pharmacists, friends and relatives, retirement community staff, newspapers, the Internet, television, and the radio. In conclusion, older adults have a greater amount of trust in a person with whom they are able to actively discuss their health as opposed to a nonliving source, which they have to access or manipulate, such as the Internet. Efforts must be made to help older adults better navigate and utilize the Internet and recognize dependable online sources so that they may increase their trust in its use, thereby increasing satisfaction with their own ability to seek and use sources of health information.

Comparative mapping in watermelon [Citrullus lanatus (Thunb.) Matsum. et Nakai].

The first single-nucleotide polymorphism (SNP) maps for watermelon [Citrullus lanatus (Thunb.) Matsum. et Nakai] were constructed and compared. Three populations were developed from crosses between two elite cultivars, Klondike Black Seeded × New Hampshire Midget (KBS × NHM), an elite cultivar and wild egusi accession, Strain II × PI 560023 (SII × Egusi) and an elite cultivar and a wild citron accession, ZWRM50 × PI 244019 (ZWRM × Citroides). The SII × Egusi and ZWRM × Citroides F(2) populations consisted of 187 and 182 individuals respectively while the KBS × NHM recombinant inbred line (RIL) population consisted of 164 lines. The length of the genetic maps were 1,438, 1,514 and 1,144 cM with average marker distances of 3.8, 4.2, and 3.4 cM for the KBS × NHM, SII × Egusi and ZWRM × Citroides populations, respectively. Shared markers were used to align the three maps so that the linkage groups (LGs) represented the 11 chromosomes of the species. Marker segregation distortion were observed in all three populations, but was highest (12.7 %) in the ZWRM × Citroides population, where Citroides alleles were favored. The three maps were used to construct a consensus map containing 378 SNP markers with an average distance of 5.1 cM between markers. Phenotypic data was collected for fruit weight (FWT), fruit length (FL), fruit width (FWD), fruit shape index (FSI), rind thickness (RTH) and Brix (BRX) and analyzed for quantitative trait loci (QTL) associated with these traits. A total of 40 QTL were identified in the three populations, including major QTL for fruit size and shape that were stable across genetic backgrounds and environments. The present study reports the first SNP maps for Citrullus and the first map constructed using two elite parents. We also report the first stable QTL associated with fruit size and shape in Citrullus lanatus. These maps, QTL and SNPs should be useful for the watermelon community and represent a significant step towards the potential use of molecular tools in watermelon breeding.

A collaborative approach to diabetes management: the choice made for Colorado schools.

Students with diabetes deserve a school nurse who can effectively manage the disease. Tensions between the school and families sometimes emerge when a child with diabetes goes to school. To resolve these tensions in Colorado, stakeholders collaborated to implement a statewide program to meet the needs of students with diabetes. Colorado school nursing leadership partnered with the National Association of School Nurses to adapt components of the Managing and Preventing Diabetes and Weight Gain Program (MAP), funded by the Centers for Disease Control and Prevention. The Healthy Learner Model for Chronic Condition Management, integral to MAP, provided guidance for the Colorado Collaborative to design the Diabetes Resource Nurse Program. The program supports the practicing school nurse, and facilitates collaboration between the family, school, and health care provider. This article describes how stakeholders in Colorado chose to collaborate when faced with rising tensions over how to best manage students with diabetes.

"Removing the thorns": the role of the arts in recovery for people with mental health challenges.

BACKGROUND: While the arts have long been associated with mental health, the role of self-directed arts participation in recovery has not been fully explored. METHODS: We explored the question: From the perspectives of people living with mental health challenges, how does participation in and exhibiting or performing one's art impact recovery? Six individual interviews and 19 narratives by artists with mental health challenges associated with an arts exhibit were analyzed using inductive thematic analysis. RESULTS: The data are described by the themes providing structure and continuity, (re)creating our personal stories and building community. Novel findings include ongoing engagement in the arts as providing continuity during turbulent times. The role of the arts in advocacy on mental health was highlighted. CONCLUSION: While artists sometimes perceived paternalism in audience members, the arts provided a powerful means of communicating about mental illness, countering stigma and challenging dominant ways of conceptualizing mental illness.

Clinical and Patient-centered Outcomes of Nonsurgical Root Canal Retreatment in First Molars Using Contemporary Techniques.

INTRODUCTION: There have been many recent technical advances in modern endodontics that have the potential to affect treatment outcomes. Reports on treatment outcomes using contemporary techniques are relatively scarce, especially in the field of nonsurgical retreatment. The purpose of this study was to determine the success of nonsurgical root canal retreatment in molars using contemporary endodontic techniques. METHODS: Sixty-three patients referred for retreatment in first molars were enrolled in the study. The retreatment procedures were performed by endodontic residents using a semistandardized treatment protocol. Patients were followed-up at 6, 12, and 24 months. Treatment outcomes were categorized into healed, healing, or nonhealing based on clinical and radiographic criteria. Healed and healing were considered as successes, and nonhealing was considered a failure. Outcomes were also evaluated using patient-centered criteria that included oral health-related quality of life scores and subjective chewing ability. RESULTS: Fifty-two of the 63 patients were available for final analysis. Five cases (9.6%) were determined to be nonhealing at the last follow-up with new or persistent periapical lesions. Thirty-seven (71.2%) patients had complete resolution of apical periodontitis, and the remaining 10 (19.2%) remained asymptomatic and showed radiographic evidence of healing. Oral health-related quality of life scores and chewing ability improved significantly over time (P < .05), with the biggest increase observed within the first week of treatment completion. CONCLUSIONS: This study showed that endodontic retreatment using contemporary techniques significantly improved patients' quality of life and chewing ability over time, with a success rate of 90.4% after 2 years.

Trust in health information sources differs between young/middle and oldest old.

PURPOSE: Examine differences in trust of health information sources between the oldest old and young/middle old. DESIGN: Cross-sectional survey using convenience sampling. SETTING: Eleven retirement communities. SUBJECTS: Older adults ≥65 years (N = 353). MEASURES: Self-rated trust in health information sources. ANALYSIS: Mann-Whitney U-test or Fisher exact test to compare trust between age groups; multinomial ordered logistic regression analyses to model trust in Internet information sources. RESULTS: The overall survey response rate was 26.6%. Differences in trust were identified between oldest old (n = 108) and young/middle old (n = 245) for pharmacist (p < .05), Internet (p < .001), television (p < .05), radio (p < .001), and newspaper (p < .05) sources. In the oldest old, we found associations between levels of trust in Internet sources and frequency of Internet use (ß = 4.13, p < .001). CONCLUSION: Understanding where differences in trust arise can inform the design of resources to support the information-seeking process. When planning widespread distribution of health information to these distinct groups, program developers need to consider these differences.

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and determined the frequency and type of SGCE mutations. The aim was to establish the motor phenotype in mutation carriers and utility of current diagnostic criteria. Eighty-nine probands with clinical features compatible with MDS were recruited from the UK and Ireland. Patients were phenotypically classified as "definite", "probable" or "possible" MDS according to previous guidelines. SGCE was analyzed using direct sequencing and copy number variant analysis. In those where no mutation was found, DYT1 (GAG deletion), GCH1, THAP1 and NKX2.1 genes were also sequenced. Nineteen (21.3%) probands had an SGCE mutation. Three patterns of motor symptoms emerged: (1) early childhood onset upper body myoclonus and dystonia, (2) early childhood onset lower limb dystonia, progressing later to more pronounced myoclonus and upper body involvement, and (3) later childhood onset upper body myoclonus and dystonia with evident cervical involvement. Five probands had large contiguous gene deletions ranging from 0.7 to 2.3 Mb in size with distinctive clinical features, including short stature, joint laxity and microcephaly. Our data confirms that SGCE mutations are most commonly identified in MDS patients with (1) age at onset ≤10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia. Cases with whole SGCE gene deletions had additional clinical characteristics, which are not always predicted by deletion size or gene involvement.

Differences in masticatory function in patients with endodontically treated teeth and single-implant-supported prostheses: a pilot study.

Endodontic treatment and dental implants are both viable treatment options to restore a compromised dentition. How these treatments impact patients' ability to chew has not been studied. The purpose of this study was to compare various parameters of masticatory function in patients with endodontically treated teeth and single-implant supported prostheses. Fifty patients were included in this study. Twenty-five patients had mandibular molar root canals, and 25 had single implant-supported prostheses in the mandibular molar region. The natural tooth contralateral to the treated side served as the internal control. Maximum bite force, chewing efficiency, and areas of occlusal contact and near contact (ACNC) were recorded for each subject, along with a questionnaire to evaluate subjective chewing ability. When compared with contralateral controls, dental implants were found to have significantly lower maximum bite forces, reduced chewing efficiency, and smaller ACNC. Endodontically treated teeth were not statistically different than their contralateral controls. These results indicate that endodontically treated natural teeth may provide more effective occlusal contact during masticatory function compared with implant-supported restorations, leading to more efficient mastication.