Attention bias to emotional faces varies by IQ and anxiety in Williams syndrome

Individuals with Williams syndrome (WS) often experience significant anxiety. A promising approach to anxiety intervention has emerged from cognitive studies of attention bias to threat. To investigate the utility of this intervention in WS, this study examined attention bias to happy and angry faces in individuals with WS (N=46). Results showed a significant difference in attention bias patterns as a function of IQ and anxiety. Individuals with higher IQ or higher anxiety showed a significant bias toward angry, but not happy faces, whereas individuals with lower IQ or lower anxiety showed the opposite pattern. These results suggest that attention bias interventions to modify a threat bias may be most effectively targeted to anxious individuals with WS with relatively high IQ

Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations

The Partners HealthCare Biobank is a Partners HealthCare enterprise-wide initiative whose goal is to provide a foundation for the next generation of translational research studies of genotype, environment, gene-environment interaction, biomarker and family history associations with disease phenotypes. The Biobank has leveraged in-person and electronic recruitment methods to enroll >30,000 subjects as of October 2015 at two academic medical centers in Partners HealthCare since launching in 2010. Through a close collaboration with the Partners Human Research Committee, the Biobank has developed a comprehensive informed consent process that addresses key patient concerns, including privacy and the return of research results. Lessons learned include the need for careful consideration of ethical issues, attention to the educational content of electronic media, the importance of patient authentication in electronic informed consent, the need for highly secure IT infrastructure and management of communications and the importance of flexible recruitment modalities and processes dependent on the clinical setting for recruitment

Studiul privind sănătatea mentală - România

The article shows the findings of Mental Health Survey – Romania 2007, regarding the lifetime prevalence, the age group variation, the onset age of mental disorders, the projected risk by 75 years, and the comparison of the projected risk with the observed lifetime prevalence the proportion of those making initial treatment contacts in the year of onset and by 75 years.     The lifetime prevalence for any mental disorders, among those of 18 years old and older is 13.4% with the onset in the adolescence or early adulthood. Among the mental disorders the highest prevalence can be found for anxiety disorders. For some of the anxiety disorders (specific phobia, social phobia, posttraumatic stress disorders, panic disorders, and alcohol abuse with or without dependence) can be noticed an increase of prevalence in adulthood compared to younger ages, following a decrease at 65 years or older ages. The major depressive episode registers continuous increase reaching the highest prevalence at elderly people. The projected lifetime risk shows higher values compared to the observed lifetime prevalence. The proportion of those making initial treatment contact  in the year of onset is 32-63% for those with bipolar disorder, dysthymia,   drug abuse, 10,2-24,6% for mood disorders and agoraphobia and under 10% for major depressive episode, panic disorder specific phobia alcohol abuse and substance use disorders.Keywords: mental health, mental disorders, lifetime prevalence, services useArticolul prezintă rezultate din Studiul Sănătatea Mentală România 2007, referitoare la prevalenţa pe durata vieţii, variaţia pe grupe de vârstă, vârsta de debut a tulburărilor mentale, riscul proiectat până la vârsta de 75 de ani, comparaţii ale acestui risc cu prevalenţa pe durata vieţii, proporţia celor care se adresează unui profesionist în vederea iniţierii tratamentului în anul de debut sau până la 50 de ani. De-a lungul vieţii, 13,4% dintre adulţii de 18 ani şi peste vorbitori de limba română îndeplinesc criteriile sistemului de diagnostic DSM-IV pentru cel puţin o tulburare mentală, având debutul de obicei în adolescenţă sau la începutul maturităţii. Dintre tulburările mentale, cea mai ridicată prevalenţă se întâlneşte la tulburările de anxietate. Pentru tulburările de anxietate, fobia specifică, fobia socială şi tulburarea posttraumatică de stress, tulburarea de panică, abuzul de alcool, cu sau fără dependenţă, se observă o creştere a prevalenţei la maturitate faţă de tinereţe, urmând un declin la vârsta de 65 de ani şi peste. Tulburarea depresivă majoră înregistrează în schimb creşteri progresive, având cea mai mare prevalenţă la vârstnici.  Riscul proiectat la vârsta de 75 de ani arată valori mai mari decât prevalenţa observată. Proporţia celor care se adresează unui profesionist în anul de debut al afecţiunii este cuprinsă între 32-63% pentru tulburarea bipolară, distimie, abuzul de droguri, între 10,2-24,6% pentru tulburările de dispoziţie şi agorafobie şi se situează sub 10% pentru episodul depresiv major, tulburarea de panică, abuzul de alcool cu dependenţă, anxietatea generalizată, tulburarea posttraumatică de stress, tulburările de anxietate, fobia specifică, abuzul de alcool şi tulburările legate de consumul de alcool şi droguri.   Cuvinte cheie: sănătate mentală, tulburări mentale, prevalenţa în timpul vieţii, utilizarea serviciilo

Services Management

main aspects of lifetime prevalence and service use o

How well do parents identify their child's baby teeth? Engagement and accuracy of parent- reported information on a tooth checklist survey

Objectives: Naturally exfoliated primary teeth are being increasingly collected in child development studies. Most of these odontological collections and tooth biobanks use parent-reported information from questionnaires or tooth checklists to collect data on offspring teeth. To the best of the authors’ knowledge, no studies have assessed parental engagement in tooth checklists, nor parental accuracy in identifying their child’s baby tooth. This study aimed to evaluate these dimensions by analyzing data from the About this Tooth checklist returned with donated primary teeth in a natural experimental study called STRONG (the Stories Teeth Record of Newborn Growth).Methods: Parental self-reported information were analyzed on checklists returned with 825 primary teeth belonging to 199 children. The percentage of blank answers was calculated for each question. The accuracy of parents-reported tooth identification was evaluated by comparing parental ratings to researchers’ ratings. Reliability of researchers’ tooth identification was first evaluated by calculating intra-observer and inter-observer agreements, as well as Cohen’s Kappa values. The percentage of accuracy of parents’ tooth identification (relative to researcher’s) was then calculated, and logistic regressions were used to evaluate if time elapsed between when exfoliation occurred and the checklist was completed associated with parental accuracy in tooth identification.Results: Parents returned 98.4% of the checklists and completed 74.9% to 97.7% of the questions. Excellent reliability was demonstrated for researchers’ intra- and inter-rater tooth identification (agreement percentages > 90%; Cohen’s Kappa values > 0.83). Moderate accuracy of parents-reported tooth identifications was found, with parents correctly identifying 49.5% of the donated tooth. Better parental accuracies were highlighted for partial identifications (87.1% of correct jaw, 75.6% of correct tooth type, and 65.8% of correct lateralization). Logistic regressions showed the odds of correct parental identifications decreased on average by 1.8% every 30 days of distance between tooth exfoliation and checklist completion. Conclusions: While parental engagement is high, parents-reported tooth identifications have moderate accuracy, which decreases over time. High accuracy is however found for partial identifications. Parent-reported information on the accompanying questionnaire of naturally exfoliated primary teeth collection or tooth biobanks, even when filled in a long time after exfoliation took place, should be encouraged. However, expert identifications of teeth should remain best practice

Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research

The purpose of this study is to characterize the potential benefits and challenges of electronic informed consent (eIC) as a strategy for rapidly expanding the reach of large biobanks while reducing costs and potentially enhancing participant engagement. The Partners HealthCare Biobank (Partners Biobank) implemented eIC tools and processes to complement traditional recruitment strategies in June 2014. Since then, the Partners Biobank has rigorously collected and tracked a variety of metrics relating to this novel recruitment method. From June 2014 through January 2016, the Partners Biobank sent email invitations to 184,387 patients at Massachusetts General Hospital and Brigham and Women’s Hospital. During the same time period, 7078 patients provided their consent via eIC. The rate of consent of emailed patients was 3.5%, and the rate of consent of patients who log into the eIC website at Partners Biobank was 30%. Banking of biospecimens linked to electronic health records has become a critical element of genomic research and a foundation for the NIH’s Precision Medicine Initiative (PMI). eIC is a feasible and potentially game-changing strategy for these large research studies that depend on patient recruitment

Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research

The purpose of this study is to characterize the potential benefits and challenges of electronic informed consent (eIC) as a strategy for rapidly expanding the reach of large biobanks while reducing costs and potentially enhancing participant engagement. The Partners HealthCare Biobank (Partners Biobank) implemented eIC tools and processes to complement traditional recruitment strategies in June 2014. Since then, the Partners Biobank has rigorously collected and tracked a variety of metrics relating to this novel recruitment method. From June 2014 through January 2016, the Partners Biobank sent email invitations to 184,387 patients at Massachusetts General Hospital and Brigham and Women’s Hospital. During the same time period, 7078 patients provided their consent via eIC. The rate of consent of emailed patients was 3.5%, and the rate of consent of patients who log into the eIC website at Partners Biobank was 30%. Banking of biospecimens linked to electronic health records has become a critical element of genomic research and a foundation for the NIH’s Precision Medicine Initiative (PMI). eIC is a feasible and potentially game-changing strategy for these large research studies that depend on patient recruitment

Validation of Electronic Health Record Phenotyping of Bipolar Disorder Cases and Controls

Objective: The study was designed to validate use of elec-tronic health records (EHRs) for diagnosing bipolar disorder and classifying control subjects. Method: EHR data were obtained from a health care system of more than 4.6 million patients spanning more than 20 years. Experienced clinicians reviewed charts to identify text features and coded data consistent or inconsistent with a diagnosis of bipolar disorder. Natural language processing was used to train a diagnostic algorithm with 95% specificity for classifying bipolar disorder. Filtered coded data were used to derive three additional classification rules for case subjects and one for control subjects. The positive predictive value (PPV) of EHR-based bipolar disorder and subphenotype di- agnoses was calculated against diagnoses from direct semi- structured interviews of 190 patients by trained clinicians blind to EHR diagnosis. Results: The PPV of bipolar disorder defined by natural language processing was 0.85. Coded classification based on strict filtering achieved a value of 0.79, but classifications based on less stringent criteria performed less well. No EHR- classified control subject received a diagnosis of bipolar dis- order on the basis of direct interview (PPV=1.0). For most subphenotypes, values exceeded 0.80. The EHR-based clas- sifications were used to accrue 4,500 bipolar disorder cases and 5,000 controls for genetic analyses. Conclusions: Semiautomated mining of EHRs can be used to ascertain bipolar disorder patients and control subjects with high specificity and predictive value compared with diagnostic interviews. EHRs provide a powerful resource for high-throughput phenotyping for genetic and clinical research

Genome-wide Association Study Identifies SESTD1 as a Novel Risk Gene for Lithium Responsive Bipolar Disorder

Lithium is the mainstay prophylactic treatment for bipolar disorder (BD), but treatment response varies considerably across individuals. Patients who respond well to lithium treatment might represent a relatively homogeneous subtype of this genetically and phenotypically diverse disorder. Here, we performed genome-wide association studies (GWAS) to identify (i) specific genetic variations influencing lithium response and (ii) genetic variants associated with risk for lithium-responsive BD. Patients with BD and controls were recruited from Sweden and the United Kingdom. GWAS were performed on 2698 patients with subjectively defined (self-reported) lithium response and 1176 patients with objectively defined (clinically documented) lithium response. We next conducted GWAS comparing lithium responders with healthy controls (1639 subjective responders and 8899 controls; 323 objective responders and 6684 controls). Meta-analyses of Swedish and UK results revealed no significant associations with lithium response within the bipolar subjects. However, when comparing lithium-responsive patients with controls, two imputed markers attained genome-wide significant associations, among which one was validated in confirmatory genotyping (rs116323614, P=2.74 × 10-8). It is an intronic single-nucleotide polymorphism (SNP) on chromosome 2q31.2 in the gene SEC14 and spectrin domains 1 (SESTD1), which encodes a protein involved in regulation of phospholipids. Phospholipids have been strongly implicated as lithium treatment targets. Furthermore, we estimated the proportion of variance for lithium-responsive BD explained by common variants ('SNP heritability') as 0.25 and 0.29 using two definitions of lithium response. Our results revealed a genetic variant in SESTD1 associated with risk for lithium-responsive BD, suggesting that the understanding of BD etiology could be furthered by focusing on this subtype of BD