A prospective cohort study of antipsychotic medications in pregnancy: the first 147 pregnancies and 100 one year old babies

BACKGROUND: Many women diagnosed with varying psychiatric disorders take antipsychotic medications during pregnancy. The safety of antipsychotic medications in pregnancy is largely unknown.

METHODS: We established the National Register of Antipsychotic Medications in Pregnancy in 2005. Women who are pregnant and taking an antipsychotic medication are interviewed every 6 weeks during pregnancy and then followed until their babies are one year old. The baby's progress is closely followed for the first year of life.

FINDINGS: As of April 18 2012, 147 pregnancies had been followed through to completion. There were 142 live births and data is available for 100 one year old babies. 18% of babies were born preterm, with a higher dose of antipsychotic medication correlating to an increased likelihood of premature delivery; 43% of babies required special care nursery or intensive care after birth; 37% had any degree of respiratory distress and 15% of babies developed withdrawal symptoms. Congenital anomalies were seen in eight babies. Most pregnancies resulted in the birth of live, healthy babies. The use of mood stabilisers or higher doses of antipsychotics during pregnancy increased the likelihood of babies experiencing respiratory distress or admission to Special Care Nursery or Neonatal Intensive Care Units.

CONCLUSION: There is a great need for safety and efficacy information about the use of antipsychotic medications in pregnancy. Live, healthy babies are the most common outcome following the use of antipsychotic medication in pregnancy, but clinicians should be particularly mindful of neonatal problems such as respiratory distress.

Comparing children's self-report instruments for health-related quality of life using the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY)

Children with chronic conditions often experience a long treatment which can be complex and negatively impacts the child's well-being. In planning treatment and interventions for children with chronic conditions, it is important to measure health-related quality of life (HrQoL). HrQoL instruments are considered to be a patient-reported outcome measure (PROM) and should be used in routine practice. Purpose: The aim of this study was to compare the content dimensions of HrQoL instruments for children's self-reports using the framework of ICF-CY. Method: The sample consist of six instruments for health-related quality of life for children 5 to 18 years of age, which was used in the Swedish national quality registries for children and adolescents with chronic conditions. The following instruments were included: CHQ-CF, DCGM-37, EQ-5D-Y, KIDSCREEN-52, Kid-KINDL and PedsQL 4.0. The framework of the ICF-CY was used as the basis for the comparison. Results: There were 290 meaningful concepts identified and linked to 88 categories in the classification ICF-CY with 29 categories of the component body functions, 48 categories of the component activities and participation and 11 categories of the component environmental factors. No concept were linked to the component body structures. The comparison revealed that the items in the HrQoL instruments corresponded primarily with the domains of activities and less with environmental factors. Conclusions: In conclusion, the results confirm that ICF-CY provide a good framework for content comparisons that evaluate similarities and differences to ICF-CY categories. The results of this study revealed the need for greater consensus of content across different HrQoL instruments. To obtain a detailed description of children's HrQoL, DCGM-37 and KIDSCREEN-52 may be appropriate instruments to use that can increase the understanding of young patients' needs.

Using health-related quality of life instruments for children with long-term conditions : On the basis of a national quality registry system

Introduction: There has been a continuous development of new technologies in healthcare that are derived from national quality registries. However, this innovation needs to be translated into the workflow of healthcare delivery, to enable children with long-term conditions to get the best support possible to manage their health during everyday life. Since children living with long-term conditions experience different interference levels in their lives, healthcare professionals need to assess the impact of care on children’s day-to-day lives, as a complement to biomedical assessments. Aim: The overall aim of this thesis was to explore and describe the use of instruments about health-related quality of life (HRQOL) in outpatient care for children with long-term conditions on the basis of a national quality registry system. Methods: The research was conducted by using comparative, cross-sectional and explorative designs and data collection was performed by using different methods. The questionnaire DISABKIDS Chronic Generic Measure -37 was used as well as semi-structured interviews and video-recordings from consultations. Altogether, 156 children (8–18 years) and nine healthcare professionals participated in the studies. Children with Type 1 Diabetes (T1D) (n 131) answered the questionnaire DISABKIDS and children with rheumatic diseases, kidney diseases and T1D (n 25) were interviewed after their consultation at the outpatient clinic after the web-DISABKIDS had been used. In total, nine healthcare professionals used the HRQOL instrument as an assessment tool during the encounters which was video-recorded (n 21). Quantitative deductive content analysis was used to describe content in different HRQOL instruments. Statistical inference was used to analyse results from DISABKIDS and qualitative content analysis was used to analyse the interviews and video-recordings. Results: The findings showed that based on a biopsychosocial perspective, both generic and disease-specific instruments should be used to gain a comprehensive evaluation of the child’s HRQOL. The DISABKIDS instrument is applicable when describing different aspects of health concerning children with T1D. When DISABKIDS was used in the encounters, children expressed positive experiences about sharing their results with the healthcare professional. It was discovered that different approaches led to different outcomes for the child when the healthcare professionals were using DISABKIDS during the encounter. When an instructing approach is used, the child’s ability to learn more about their health and how to improve their health is limited. When an inviting or engaging approach is used by the professional, the child may become more involved during the conversations. Conclusions: It could be argued that instruments of HRQOL could be used as a complement to biomedical variables, to promote a biopsychosocial perspective on the child’s health. According to the children in this thesis, feedback on their results after answering to web-DISABKIDS is important, which implies that healthcare professionals need to prioritize time for discussions about results from HRQOL instruments in the encounters. If healthcare professionals involve the child in the discussion of the results of the HRQOL, misinterpreted answers could be corrected during the conversation. Concurrently, this claims that healthcare professionals invite and engage the child.

Factors facilitating a national quality registry to aid clinical quality improvement : findings of a national survey

Objectives: While national quality registries (NQRs) are suggested to provide opportunities for systematic follow-up and learning opportunities, and thus clinical improvements, features in registries and contexts triggering such processes are not fully known. This study focuses on one of the world's largest stroke registries, the Swedish NQR Riksstroke, investigating what aspects of the registry and healthcare organisations facilitate or hinder the use of registry data in clinical quality improvement. Methods: Following particular qualitative studies, we performed a quantitative survey in an exploratory sequential design. The survey, including 50 items on context, processes and the registry, was sent to managers, physicians and nurses engaged in Riksstroke in all 72 Swedish stroke units. Altogether, 242 individuals were presented with the survey; 163 responded, representing all but two units. Data were analysed descriptively and through multiple linear regression. Results: A majority (88%) considered Riksstroke data to facilitate detection of stroke care improvement needs and acknowledged that their data motivated quality improvements (78%). The use of Riksstroke for quality improvement initiatives was associated (R2=0.76) with ‘Colleagues’ call for local results’ (p=<0.001), ‘Management Request of Registry data’ (p=<0.001), and it was said to be ‘Simple to explain the results to colleagues’ (p=0.02). Using stepwise regression, ‘Colleagues’ call for local results’ was identified as the most influential factor. Yet, while 73% reported that managers request registry data, only 39% reported that their colleagues call for the unit's Riksstroke results. Conclusions: While an NQR like Riksstroke demonstrates improvement needs and motivates stakeholders to make progress, local stroke care staff and managers need to engage to keep the momentum going in terms of applying registry data when planning, performing and evaluating quality initiatives.

Text2PreventCVD: Protocol for a systematic review and individual participant data meta-analysis of text-message based interventions for the prevention of cardiovascular diseases.

Introduction Text message interventions have been shown to be effective in prevention and management of several non-communicable disease risk factors. However, the extent to which their effects might vary in different participants and settings is uncertain. We aim to conduct a systematic review and individual participant data (IPD) meta-analysis of randomised clinical trials examining text message interventions aimed to prevent cardiovascular diseases (CVD) through modification of cardiovascular risk factors (CVRFs). Methods and analysis Systematic review and IPD meta-analysis will be conducted according to Preferred Reporting Items for Systematic review and Meta-Analysis of IPD (PRISMA-IPD) guidelines. Electronic database of published studies (MEDLINE, EMBASE, PsycINFO and Cochrane Library) and international trial registries will be searched to identify relevant randomised clinical trials. Authors of studies meeting the inclusion criteria will be invited to join the IPD meta-analysis group and contribute study data to the common database. The primary outcome will be the difference between intervention and control groups in blood pressure at 6-month follow-up. Key secondary outcomes include effects on lipid parameters, body mass index, smoking levels and self-reported quality of life. If sufficient data is available, we will also analyse blood pressure and other secondary outcomes at 12 months. IPD meta-analysis will be performed using a one-step approach and modelling data simultaneously while accounting for the clustering of the participants within studies. This study will use the existing data to assess the effectiveness of text message-based interventions on CVRFs, the consistency of any effects by participant subgroups and across different healthcare settings. Ethics and dissemination Ethical approval was obtained for the individual studies by the trial investigators from relevant local ethics committees. This study will include anonymised data for secondary analysis and investigators will be asked to check that this is consistent with their existing approvals. Results will be disseminated via scientific forums including peer-reviewed publications and presentations at international conferences.

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

OBJECTIVE: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia.

METHODS: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death.

DESIGN: Prospective observational cohort study.

PARTICIPANTS: 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015.

RESULTS: 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78-85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15-18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8-36% of ALS phenotypes and 2-9% of the flail phenotypes. Non-invasive ventilation was started in 16-22% of ALS phenotypes and 21-29% of flail phenotypes.

CONCLUSIONS: The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.

The Notion of the “Concept Instance”: Problems in Modeling Concept Change in SKOS

The U.S. National Science Foundation metadata registry under development for the National Science Digital Library (NSDL) is a repertory intended to manage both metadata schemes and schemas. The focus of this draft discussion paper is on the scheme side of the development work. In particular, the concern of the discussion paper is with issues around the creation of historical snapshots of concept changes and their encoding in SKOS. Through framing the problem as we see it, we hope to find an optimal solution to our need for a SKOS encoding of these snapshots. Since what we are seeking to model is concept change, it is necessary at the outset to make it clear that we are not talking about changes to a concept of such a nature that would require the declaration a new concept with its own URI.In the project, we avoid the use of the terms “version” and “versioning” with regard to changes in concepts and reserve their use to the significant changes of schemes as a whole. Significant changes triggering a new scheme version might include changes in scheme documentation that express a significant shift in the purpose, use or architecture of the scheme. We use the term “snapshot” to denote the state of a scheme at identifiable points in time. Thus, snapshots are identifiable views of a scheme that record the incremental changes that have occurred to concepts, relationships among concepts, and scheme documentation since the last snapshot. Aspects of concept change occur that we need to capture and make available both through the registry and through potentially in transmission of a scheme to other registries. We call these capturings “concept instances.”

Estado de las enfermedades raras que cursan con discapacidad intelectual en Colombia

Las enfermedades raras o huérfano son una problemática que ha tomado mucha importancia en el contexto mundial del presente siglo, estas se han definido como crónicas, de difícil tratamiento de sus síntomas y con baja prevalencia en la población; muchas de estas enfermedades cursan con varios tipos de discapacidad, siendo el objetivo del presente trabajo el enfocarse en aquellas enfermedades raras que cursan con discapacidad intelectual. Para poder profundizar en estas enfermedades se realizó una revisión teórica sobre las enfermedades raras, así como de la discapacidad psíquica y su importancia a nivel mundial y nacional. A partir de estas definiciones, se revisaron en profundidad 3 enfermedades raras que cursan con discapacidad intelectual en el contexto colombiano, como son: el síndrome de Rett, el síndrome de Prader-Willi y el síndrome de X frágil. En cada una de estas enfermedades además se explicaron los tipos de diagnóstico, intervención, prevención, grupos de apoyo y tipos de evaluación que más se usan en el contexto nacional

Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.

Modelo de gestión para la atención integral de pacientes con enfermedades huérfanas o raras en Colombia

Las enfermedades raras o huérfanas corresponden a aquellas con baja prevalencia en la población, y en varios países tienen una definición distinta de acuerdo con el número de pacientes que afectan en la población. La Organización Mundial de la Salud (OMS), las define como un trastorno que afecta de 650 a 1.000 personas por millón de habitantes, de las que se han identificado alrededor de 7.000. En Colombia su prevalencia es menor de 1 por cada 5.000 personas y comprenden: las enfermedades raras, las ultra-huérfanas y las olvidadas. Los pacientes con este tipo de enfermedades imponen retos a los sistemas sanitarios, pues si bien afectan a un bajo porcentaje de la población, su atención implica una alta carga económica por los costos que involucra su atención, la complejidad en su diagnóstico, tratamiento, seguimiento y rehabilitación. El abordaje de las enfermedades raras requiere un manejo interdisciplinar e intersectorial, lo que implica la organización de cada actor del sistema sanitario para su manejo a través de un modelo que abraque las dinámicas posibles entre ellos y las competencias de cada uno. Por lo anterior, y teniendo en cuenta la necesidad de formular políticas sanitarias específicas para la gestión de estas enfermedades, el presente trabajo presenta una aproximación a la formulación de un modelo de gestión para la atención integral de pacientes con enfermedades raras en Colombia. Esta investigación describe los distintos elementos y características de los modelos de gestión clínica y de las enfermedades raras a través de una revisión de literatura, en la que se incluye la descripción de los distintos actores del Sistema de Salud Colombiano, relacionados con la atención integral de estos pacientes para la documentación de un modelo de gestión integral.

Caracterización sociodemográfica de las enfermedades huérfanas en Colombia

Las enfermedades huérfanas en Colombia, se definen como aquellas crónicamente debilitantes, que amenazan la vida, de baja prevalencia (menor 1/5000) y alta complejidad. Se estima que a nivel mundial existen entre 6000 a 8000 enfermedades raras diferentes(1). Varios países a nivel mundial individual o colectivamente, en los últimos años han creado políticas e incentivos para la investigación y protección de los pacientes con enfermedades raras. Sin embargo, a pesar del creciente número de publicaciones; la información sobre su etiología, fisiología, historia natural y datos epidemiológicos persiste escasa o ausente. Los registros de pacientes, son una valiosa herramienta para la caracterización de las enfermedades, su manejo y desenlaces con o sin tratamiento. Permiten mejorar políticas de salud pública y cuidado del paciente, contribuyendo a mejorar desenlaces sociales, económicos y de calidad de vida. En Colombia, bajo el decreto 1954 de 2012 y las resoluciones 3681 de 2013 y 0430 de 2013 se creó el fundamento legal para la creación de un registro nacional de enfermedades huérfanas. El presente estudio busca determinar la caracterización socio-demográfica y la prevalencia de las enfermedades huérfanas en Colombia en el periodo 2013. Métodos: Se realizó un estudio observacional de corte transversal de fuente secundaria sobre pacientes con enfermedades huérfanas en el territorio nacional; basándose en el registro nacional de enfermedades huérfanas obtenido por el Ministerio de Salud y Protección Social en el periodo 2013 bajo la normativa del decreto 1954 de 2012 y las resoluciones 3681 de 2013 y 0430 de 2013. Las bases de datos obtenidas fueron re-categorizadas en Excel versión 15.17 para la extracción de datos y su análisis estadístico posterior, fue realizado en el paquete estadístico para las ciencias sociales (SPSS v.20, Chicago, IL). Resultados: Se encontraron un total de 13173 pacientes con enfermedades huérfanas para el 2013. De estos, el 53.96% (7132) eran de género femenino y el 46.03% (6083) masculino; la mediana de la edad fue de 28 años con un rango inter-cuartil de 39 años, el 9% de los pacientes presentaron discapacidad. El registro contenía un total de 653 enfermedades huérfanas; el 34% del total de las enfermedades listadas en nuestro país (2). Las patologías más frecuentes fueron el Déficit Congénito del Factor VIII, Miastenia Grave, Enfermedad de Von Willebrand, Estatura Baja por Anomalía de Hormona de Crecimiento y Displasia Broncopulmonar. Discusión: Se estimó que aproximadamente 3.3 millones de colombianos debían tener una enfermedad huérfana para el 2013. El registro nacional logró recolectar datos de 13173 (0.4%). Este bajo número de pacientes, marca un importante sub-registro que se debe al uso de los códigos CIE-10, desconocimiento del personal de salud frente a las enfermedades huérfanas y clasificación errónea de los pacientes. Se encontraron un total de 653 enfermedades, un 34% de las enfermedades reportadas en el listado nacional de enfermedades huérfanas (2) y un 7% del total de enfermedades reportadas en ORPHANET para el periodo 2013 (3). Conclusiones: La recolección de datos y la sensibilización sobre las enfermedades huérfanas al personal de salud, es una estrategia de vital importancia para el diagnóstico temprano, medidas específicas de control e intervenciones de los pacientes. El identificar apropiadamente a los pacientes con este tipo de patologías, permite su ingreso en el registro y por ende mejora el sub-registro de datos. Sin embargo, cabe aclarar que el panorama ideal sería, el uso de un sistema de recolección diferente al CIE-10 y que abarque en mayor medida la totalidad de las enfermedades huérfanas.