La salud bucodental de escolares con retraso mental como prioridad del Sistema Nacional de Salud / The Oral Health of Mentally Retarded Schoolchildren as a Priority of the National Health System

El siglo xxi llega y se presenta con algo peculiar, el término calidad de vida no solo teñirá las intenciones y acciones de individuos que gozan de mayores posibilidades de elección, decisión y optan por una vida de mayor calidad, sino también de los servicios humanos, en general, que se verán obligados a adoptar técnicas para el mejoramiento de sus procedimientos. El Sistema Nacional de Salud ha alcanzado gran desarrollo en este sentido, pero la necesidad de perfeccionarlo ha requerido un cambio cualitativo en lo que se refiere a la atención médica y estomatológica primaria, a partir del reconocimiento del hombre como ser social y de su salud como un estado condicionado y determinado por los factores ambientales y sociales en los que él vive. Es prioridad del Sistema Nacional de Salud garantizar la salud a toda la población y brindar prioridad a las personas más vulnerables a las enfermedades, como son los pacientes discapacitados, y tiene como premisa que la salud es un derecho de todos los individuos y una responsabilidad del Estado.1 La salud bucodental es un componente de la salud general de las personas y es vital para un adecuado crecimiento y desarrollo del niño,1 debido a que las enfermedades bucales afectan diversos aspectos del vivir diario, como son la función masticatoria y fonoarticular, la apariencia física y las relaciones interpersonales y comprometen el bienestar biosocial y la calidad de vida.2) Estas enfermedades son prevenibles y relacionadas con problemas en el autocuidado de la salud oral.3 La necesidad de establecer hábitos y costumbres beneficiosas para la salud desde los primeros momentos de la vida es de interés, pues en esta etapa se forjan los cimientos que consolidan una calidad de vida superior y duradera. La discapacidad puede considerarse un fenómeno universal que se manifiesta en las personas en cualquier momento de su vida; y su definición no es obra terminada, coexisten diferentes maneras de enfocarla y, con frecuencia, no es aceptada por...(AU)

Caracterización de pacientes con enfermedades genéticas / Characterization of Patients with Genetic Diseases

Introducción: Las enfermedades genéticas se corresponden con variaciones genéticas del desarrollo que precisan ayuda médica, educativa, social o combinaciones de estas. Objetivo: Caracterizar clínica y epidemiológicamente a los pacientes con enfermedades genéticas. Método: Estudio descriptivo transversal. El universo estuvo constituido por los 521 pacientes evaluados en la consulta de asesoramiento genético del municipio Mayarí y la muestra estuvo representada por los 216 pacientes portadores de enfermedades genéticas pertenecientes al Policlínico Universitario 26 de Julio; del Área de Salud de Mayarí, durante el año 2018. Resultados: Predominó el sexo femenino (53,24 por ciento), el grupo de edades de 41 a 50 años (18,06 por ciento), las enfermedades monogénicas (58,8 por ciento), los pacientes con síndrome de Down (20,37 por ciento), los pacientes que no cuentan con antecedentes familiares (54,63por ciento). Conclusiones: Prevalecieron los pacientes con discapacidad mental, con diagnóstico posnatal y con más de 20 años de diagnóstico. El mayor número no realizaba tratamiento. Los pacientes vinculados integralmente a la sociedad resultaron minoría, así como los que tenían antecedentes familiares de enfermedad genética(AU)

Introduction: Genetic diseases are due to developmental genetic variations that require medical, educational and social help, or combinations of these. Objective: To characterize, clinically and epidemiologically, patients with genetic diseases. Method: Descriptive and cross-sectional study. The universe was made up of the 521 patients assessed in the genetic counseling consultation of Mayarí Municipality and the sample was represented by the 216 patients with genetic diseases belonging to 26 de Julio University Polyclinic of the health area of Mayarí, during the year 2018. Results: The female sex predominated (53.24 percent), together with the age group 41-50 years (18.06 percent), monogenic diseases (58.8 percent), patients with Down syndrome (20.37 percent), and patients with no family history of diseases (54.63 percent). Conclusions: Patients with mental disabilities, with postnatal diagnosis and with more than twenty years of diagnosis prevailed. The largest number did not undergo treatment. Patients fully linked to society were a minority, as well as those with a family history of genetic disease(AU)

Descripción clínica de pacientes pediátricos con enfermedades neuromusculares en una muestra de población chilena / Clinical description of pediatric patients with neuromuscular diseases in a Chilean population sample

OBJETIVO: Describir clínica y diagnóstico de 152 pacientes pediátricos asistentes al policlínico del Programa de Enfermedades Neuromusculares (ENM) en un centro terciario de la Región Metropolitana, Chile. METODOLOGÍA: Revisión de fichas programa EMN (2012-2016). RESULTADOS: 49% niñas, mediana de edad: 9 años (rango, 0­18), consultan por alteraciones de la marcha, debilidad e hipotonía. Segmentos más afectados son músculo y nervio periférico (92%). Diagnósticos más frecuentes son neuropatías adquiridas (26,1%), distrofias musculares (14,8%) y trastornos miotónicos (12,7%). Comorbilidades más frecuentes son patología traumatológica (23,2%) y discapacidad intelectual (13,4%). Los pacientes con patología hereditaria tienen mayor chance de requerir ventilación mecánica (OR 15,4; IC 95% 1,9­119,2) y presentar morbilidad traumatológica (OR 4,1; IC 1,03­16,4) que los con patología adquiridas. Confirmación genético-molecular en 38,4% de los pacientes con patología hereditaria. CONCLUSIONES: El conocimiento de características clínicas y posibilidades de estudio de las ENM puede mejorar las estrategias de atención.

INTRODUCTION: Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. OBJECTIVES: To clinically and epidemiologically characterize the pediatric population attending a polyclinic run using the NMS program of a hospital in the Metropolitan Region in Chile. Methodology: A review was made of database and clinical records of patients diagnosed with NMS between January 2012 and December 2016. RESULTS: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, decreased strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%) and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having a traumatological disease (OR 4.1 [CI 1.03-16.4]) compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through molecular genetic testing. CONCLUSIONS: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Keywords: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.

Comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual / Open communication between mental health professionals and parents of patients with intellectual disabilities

Resumen Objetivo: Estimar los factores asociados con la comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual y otros trastornos del neurodesarrollo. Material y métodos: Encuesta transversal en 759 profesionales de la salud mental. Se estimó la asociación entre el patrón de comunicación abierto y los atributos de la comunicación a través de un modelo logístico, ordinal y multivariado. Resultados: La prevalencia del patrón de comunicación abierta en profesionales de la salud mental fue de 30.6% (IC95% 27.4-34.0). Los factores asociados fueron menor edad (RM=2.42, IC95% 1.57-3.75), especialidad (RM=1.56, IC95% 1.09-2.23), alto valor a la verdad (RM=4.95, IC95% 3.21-7.65), bajo paternalismo (RM=10.93, IC95% 7.22-16.52) y cursos de bioética (RM=1.45, IC95% 1.01-2.09), ajustando por variables confusoras. Conclusión: Los profesionales de la salud mental reportaron bajos niveles de comunicación abierta con los padres de personas con trastornos del neurodesarrollo, por lo que priorizar el valor a la verdad, promover un menor paternalismo y el respeto a la autonomía de los pacientes puede contribuir a cambiar estos patrones de comunicación en la práctica clínica en México.

Abstract Objective: To estimate the factors associated with open communication between mental health professionals and parents of patients with intellectual disabilities and other neurodevelopmental disorders. Materials and methods: Cross-sectional survey in 759 mental health professionals. The association between the pattern of open communication and the attributes of communication was estimated through a logistic, ordinal, multivariate model. Results: The prevalence of the pattern of open communication in mental health professionals was 30.6% (95%CI 27.4-34.0). The associated factors were younger age (RM=2.42, 95% CI 1.57-3.75), specialty (RM= 1.56, 95%CI 1.09-2.23), high value to the truth (RM= 4.95, 95% CI 3.21-7.65), low paternalism (RM= 10.93, 95%CI 7.22-16.52) and courses in bioethics (RM= 1.45, 95%CI 1.01-2.09), adjusted for confusing variables. Conclusion: Mental health professionals reported low levels of open communication with parents of people with neurovelopmental disorders, so prioritizing the value to the truth, promoting less paternalism, and respecting the autonomy of patients, can contribute to changing these patterns of communication in clinical practice in Mexico.

Necesidad de tratamiento estomatológico en niños de la Escuela Especial Jardín de La Alegría, 2016 / Need for stomatological treatment in children of the Special School Jardín de La Alegría, 2016

RESUMEN Introducción: La salud bucal del paciente discapacitado intelectual ha sido una gran preocupación a nivel mundial. Cuba no se escapa de ello, por lo que ha implementado programas que priorizan a este tipo de individuos. Objetivo: Determinar la necesidad de tratamiento estomatológico de los pacientes con discapacidad intelectual según la categoría diagnóstica de la Escuela Especial Jardín de la Alegría. Métodos: Estudio descriptivo transversal realizado en el período comprendido entre 2016-2017. El universo de estudio estuvo constituido por 105 niños que representa la matrícula total de la escuela. El examen clínico de los escolares se realizó en el sillón dental. Para la recolección de la información se confeccionó una planilla encuesta teniendo en cuenta las características del grupo objeto de estudio: edad, sexo, categoría diagnóstica, índice COP-D y ceo-d, índice de necesidad de tratamiento periodontal comunitario, y la higiene bucal mediante el índice de higiene bucal simplificado de Greene y Vermillon. Resultados: La categoría diagnóstica que prevaleció fue el discapacitado intelectual leve con 82,8 por ciento. El 68,6 por ciento de la población estudiada presentó higiene bucal regular. El 67,6 por ciento de los niños presentó enfermedad periodontal, el 59,0 por ciento maloclusión y el 54,2 por ciento caries dental. Según necesidad de tratamiento, el 67,0 por ciento requiere tratamiento periodontal, el 59,0 por ciento tratamiento ortodóncico y el 45,7 por ciento tratamiento conservador. Conclusiones: Existió una alta necesidad de tratamiento periodontal en los individuos con discapacidad intelectual leve(AU)

ABSTRACT Introduction: The oral health of the intellectually disabled patient has been a great concern worldwide. Cuba does not escape this concern by implementing programs that prioritize this type of individuals. Objective: To determine the need for stomatological treatment of patients with intellectual disability according to the diagnostic category of the Jardín de la Alegría Special School. Methods: a cross-sectional descriptive study conducted in the period 2016-2017. The clinical examination of the students was carried out in the dental chair. For the collection of the information a survey form was made taking into account the characteristics of the group under study: age, sex, diagnostic category, COP-D index and ceo-d, index of need for community periodontal treatment, and oral hygiene using the simplified oral hygiene index of Greene and Vermillon. The universe of study was constituted by 105 children that represents the total enrollment of the school. Results: the diagnostic category that prevailed was the mild intellectual disability with 82.8. 68.6 percent of the studied population presented regular oral hygiene. 67.6 percent of the children presented periodontal disease, 59.0 percent malocclusion and 54.2 percent dental caries. According to need of treatment, 67 percent need periodontal treatment, 59.0 percent orthodontic treatment and 45.7 percent need conservative treatment. Conclusions: there was a high need for periodontal treatment in individuals with mild intellectual disability(AU)

Caracterización clínica de niños, niñas y adolescentes atendidos en una unidad de neuropsicología de Medellín, Colombia / Clinical characterization of children and adolescents attended in a neuropsychology unit of Medellín, Colombia

Introducción. La neuropsicología es el estudio de los procesos cognoscitivos comportamentales y sus alteraciones cuando se encuentra presente un daño o disfunción cerebral. En el caso de la neuropsicología infantil, esta busca evaluar e intervenir los procesos cognitivos relacionados con el aprendizaje que influyen en el desempeño académico, social, familiar y adaptativo. Objetivo. Caracterización clínica de niños y adolescentes que consultaron en la unidad de neuropsicología del Instituto Neurológico de Colombia entre los años 2013 - 2018. Métodos. Investigación observacional, descriptiva y transversal para una sola muestra de pacientes. Se extrajeron 17.623 registros de pacientes menores de 18 años que consultaron al servicio de neuropsicología del Instituto Neurológico de Colombia. Se analizaron las variables de edad, sexo y diagnóstico, mediante análisis univariados y bivariados. Se empleó la Clasificación internacional de Enfermedades (CIE-10). Resultados. Los principales diagnósticos de la población infantil fueron perturbación de la actividad y de la atención (31.9%), trastorno mixto de las habilidades escolares (2.6%) y retraso mental leve: deterioro del comportamiento significativo que requiere atención o tratamiento (2.6%). Conclusiones. Estos resultados muestran los principales tipos de trastornos neuropsicológicos de la población perteneciente al departamento de Antioquia que consulta para valoración e intervención cognitiva, lo que favorece la implementación mecanismos de prevención, diagnóstico y tratamiento para la población infantil con alteraciones en el neurodesarrollo y sus familias, mejorando su funcionamiento social y escolar.

Introduction. Neuropsychology is the study of behavioral cognitive processes and their alterations when brain damage or dysfunction is present. In the case of childhood neuropsychology, it seeks to evaluate cognitive processes related to learning that influence academic, social, family and adaptive performance. Objective. Clinical characterization of children and adolescents who consulted in the neuropsychology unit of a Colombian Neurological Institute, between 2013 - 2018. Methods. Observational, descriptive and cross-sectional research for a single sample of patients. 17,623 records were extracted from patients under 18 who consulted the neuropsychology service of a neurological institute in the city. The variables of age, sex and diagnosis were analyzed, using univariate and bivariate analyses. The International Classification of Diseases (ICD-10) was used. Results. The main diagnoses of the child population were activity and attention disturbance (31.9%), a mixed disorder of school skills (2.6%), mild mental retardation: the significant decline of the behavior that requires attention or treatment. Conclusions. These results show the most frequent neuropsychologic diagnosis of the Antioquia department residents that consult for cognitive attention and treatment, this benefits the implementation of prevention, diagnosis and treatment mechanism for the infant population with neurodevelopment disturbance and their families, improving their social and school functioning.

Homelessness and incarceration among psychiatric patients in Brazil / Pacientes psiquiátricos em situação de rua e encarceramento no Brasil

Abstract Psychiatric patients are at increased risk of adverse life events, such as being incarcerated and homelessness in their life course. Using data from a cross-sectional multicenter study of 2,475 patients selected from 26 mental health services in Brazil, we examined the association of sociodemographic, clinical, behavioral, and adverse life characteristics with history of homelessness, incarceration or their co-occurrence during lifetime. Odds ratios were obtained by multinomial logistic regression models. The prevalence of homelessness, incarceration and co-occurrence of these two conditions were 8.6%, 16.4%, and 9.4%, respectively. Lower income, living in unstable condition, intellectual disability, and cigarette smoking were associated with homelessness. Being male, lower schooling, sex under effect of alcohol or drugs, and multiple sex partners were associated with incarceration. Psychiatric hospitalizations, substance use, and history of sexually transmitted diseases, and sexual, physical, or verbal violence were associated with co-occurrence of both conditions. Our findings suggest that incarceration and homelessness are very prevalent and correlated in psychiatric patients in Brazil. Many of the associated factors are potentially modifiable, and may act synergistically requiring integrated care.

Resumo Os pacientes psiquiátricos estão em risco aumentado de eventos adversos da vida, como ser preso e morar na rua. Investigamos a associação de características sociodemográficas, clínicas, comportamentais e eventos adversos de vida com o histórico de morar na rua, encarceramento e a coocorrência dessas duas condições ao longo da vida em um estudo multicêntrico de corte transversal de 2.475 usuários de 26 serviços de saúde mental no Brasil. "Odds ratios" foram obtidos por modelos de regressão logística multinomial. A prevalência de morar na rua, encarceramento e coocorrência dessas condições foi de 8,6%, 16,4% e 9,4%, respectivamente. Menor renda, viver em habitações instáveis, deficiência mental e tabagismo foram associados a morar na rua. Ser do sexo masculino, ter menor escolaridade, histórico de sexo sob efeito de álcool ou drogas e múltiplos parceiros sexuais foram associados ao encarceramento. Internações psiquiátricas, uso de substâncias, histórico de doenças sexualmente transmissíveis e violência sexual, física ou verbal foram associados à coocorrência das duas condições. Encarceramento e morar na rua são eventos muito prevalentes e correlacionados em pacientes psiquiátricos. Muitos dos fatores associados são modificáveis e podem agir sinergicamente exigindo cuidados integrados.

Burden of Mild Mental Retardation attributed to prenatal methylmercury exposure in Amazon: local and regional estimates / Carga de Retardo Mental Leve atribuída à exposição pré-natal ao metilmercúrio na Amazônia: estimativas local e regional

Abstract The gold rush in the Amazon Region caused an increase of mercury (Hg) levels in the environment, and, consequently, raised human exposure. Once released into aquatic systems, Hg could generate methylmercury (MeHg), an extremely toxic compound, which is accumulated through trophic chains. Several studies have provided evidences of the brain sensitivity to MeHg, as well as, of the fetus vulnerability during pregnancy. The main objective of this study was to estimate the Mild Mental Retardation (MMR) in Amazonian populations, caused by prenatal exposure to MeHg, using the methodology proposed by Poulin (2008), which quantifies the environmental burden of disease. The estimates of the MMR burden, attributed to prenatal MeHg exposure, were based on the calculation of Disability-Adjusted Life Years (DALY), which were obtained from MMR incidence rate in the studied populations. At the local level, the MMR incidence rate calculations were based on primary data of MeHg exposure of riverine women at childbearing age. The MMR incidence rate was equal to 5.96/1,000 infants, which would result in 2.0 IQ points loss in 34.31% of the newborns. The estimated DALY/1,000 infants was equal to 71.2, while the DALY was 576. For the regional estimates, different exposure scenarios were created. The calculated DALY varied from 3,256 to 65,952 per year.

Resumo A corrida pelo ouro na Amazônia elevou os níveis de mercúrio (Hg) no ambiente e, consequentemente, aumentou a exposição humana. Uma vez liberado em sistemas aquáticos, o Hg pode gerar metilmercúrio (MeHg), um composto tóxico que se acumula ao longo de cadeias tróficas. Vários estudos têm gerado evidências sobre a sensibilidade do cérebro ao MeHg, bem como sobre a vulnerabilidade do feto durante a gravidez. O principal objetivo deste trabalho foi estimar a carga de Retardo Mental Leve (RML) em populações amazônicas, causada pela exposição pré-natal ao MeHg, utilizando a metodologia proposta por Poulin (2008). As estimativas de RML, atribuída à exposição ao MeHg pré-natal, foram baseadas no cálculo dos Anos de Vida Ajustados por Incapacidade (DALY), que foi desenvolvido a partir de taxa de incidência RML nas populações estudadas. Em nível local, o cálculo da taxa de incidência RML baseou-se em dados primários sobre a exposição ao MeHg em mulheres ribeirinhas em idade fértil. A taxa de incidência RML foi igual a 5,96/1.000 nascidos, o que resulta na perda de 2,0 pontos de QI em 34,31% dos nascidos. A estimativa de DALY/1.000 nascidos foi igual a 71,2, enquanto o DALY foi de 576. Para as estimativas regionais, foram criados diferentes cenários de exposição. Os DALYs calculados variaram de 3.256 a 65.952 por ano.

Atención odontológica a personas con discapacidad intelectual: una cuestión de derecho / Dental care for people with intellectual disabilities: a matter of law

En el planeta hay 100 millones de personas con alguna discapacidad yen México es el 6.2 por ciento de la población total. Estas personas son altamente vulnerables porque el entorno donde se desenvuelven no ofrece las condiciones para favorecer su integración y participación social, como el acceso a servicios médicos. De acuerdo con la Organización Mundialde la Salud, las personas con discapacidad son las menos atendidas en los Servicios Odontológicos, principalmente por inexperiencia del profesionista sobre el trato a estas personas, o bien por desconocimiento de los familiares-cuidadores de la importancia de mantener una boca sana. Las personas con discapacidad intelectual (PDI) constituyen un retopara el odontólogo, quien tiene que capacitarse para diseñar estrategiaspara su atención, ya que los tratamientos para este tipo de pacientes son específicos y poco convencionales. Adicionalmente conviene tomar precauciones en su atención dental, debido a que los PDI consumen diversos medicamentos, por lo que el odontólogo debe asegurarsecon otros especialistas para su manejo. Un punto medular sobre las características de la atención odontológica es que ésta tiene que generar confianza y enfrentar con paciencia y destreza a un PDI que cumpla con las expectativas del usuario, trato digno, calidez y confianza centrada en la prevención como principal criterio en la intervención odontológica, sobre todo en la supervisión de la higiene por parte de los familiares. Actualmente se habla de la relación médico-paciente participativa donde se define lo que corresponde a cada persona involucrada en el cuidado de la PDI, sin olvidar que esta atención conviene que sea en equipo. Así, ante este contexto, los odontólogos tendrían que formarseen el cuidado de la salud de las PDI quienes son sujetos de derecho,por tanto tienen que ser atendidos, respetados y tratados con dignidad.

On the planet, there are 100 million people with some disability andin Mexico; it is 6.2% of the total population. These people are highly vulnerable because the environment where they operate does not offer the conditions to favor their integration and social participation, such as access to medical services. According to the World Health Organization, people with disabilities are the least attended in the dental services, mainly because of the inexperience of the professional about the treatment of these people, or because the family/caregivers do notknow about the importance of maintaining a healthy mouth. People with intellectual disabilities (PIDs) are a challenge for the dentist,who has to be trained to design strategies for their care since the treatments for these types of patients are specific and unconventional.In addition, precautions should be taken in dental care, because PIDsconsume different medications, so the dentist must be sure with other specialists to handle them. A central point about the characteristicsof dental care is that it has to generate trust and face with patience and dexterity a PDIs that meets user expectations, dignified treatment, warmth, and confidence focused on prevention as the main criterion inthe intervention dental care, especially in the supervision of the hygieneby the relatives. At the moment we are talking about the participative doctor-patient relationship where it is defined that corresponds to eachperson involved in the care of the PDIs, without forgetting that this careshould be in a team. Thus in this context dentists should be trained inthe health care of the IDPs who are subjects of law, therefore have tobe attended, respected and treated with dignity.

Consent to care of persons with intellectual disability in Quebec: from vulnerability to capability / Consentimiento para el cuidado de las personas con discapacidad intelectual en Quebec: desde la vulnerabilidad hasta la capacidad

Abstract: Persons with an intellectual disability (ID) who interact with the Quebec health and social services system are faced with major decisions regarding the care they are offered. As consent to care derives from the fundamental right of all persons to personal inviolability and to autonomous decision making, they therefore have the right to accept or refuse any and all health and psychosocial care proposed. However, as free and informed consent to care must be given by an able person, the situation becomes somewhat more complicated whereas persons with ID are concerned. This article presents reflections on the challenges and issues relative to these persons' consent to health and psychosocial care.

Resumen: Las personas con discapacidad intelectual (ID) que interactúan con el sistema de salud y los servicios sociales de Quebec se enfrentan a decisiones importantes sobre la atención que se les brinda. Dado que el consentimiento a la atención se deriva del derecho fundamental de todas las personas a la integridad personal y a la toma de decisiones autónomas, éstas tienen el derecho de aceptar o rechazar cualquier atención de salud y psicosocial que se les proponga. Sin embargo, como el consentimiento libre e informado a la atención debe ser dado por una persona apta, la situación se vuelve más complicada en las personas con ID. Este artículo presenta reflexiones sobre los desafíos y temas relativos al consentimiento de estas personas hacia la salud y la atención psicosocial.

Health profiles in people with intellectual developmental disorders / Perfiles de salud en personas con trastornos del desarrollo intelectual

Abstract: Objective: To better understand the health profiles of people with intellectual disability (ID), focusing on the variables that are associated with a poorer health status. Materials and methods: Data were collected from the Survey on Disability, Personal Autonomy and Dependency (EDAD 2008) of the Spanish National Statistics Institute (INE). The health data of 2840 subjects with IDD were analyzed in order to verify the impact of different variables on their health profiles. Results: People with severe and profound levels of IDD presented a higher number of medical diagnoses. At residence centers there was a larger proportion of individuals with a higher prevalence of chronic diseases and more severe conditions; age also was an important factor. Conclusion: The health profiles of individuals with IDD differ depending on the severity level of their IDD and their degree of institutionalization. Further research is needed to provide better health care for people with IDD.

Resumen: Objetivo: Conocer los perfiles de salud de las personas con discapacidad intelectual (DI), incidiendo en las variables que se relacionan con un peor estado de salud. Material y métodos: Se han empleado datos procedentes de la Encuesta sobre Discapacidades, Autonomía personal y situaciones de Dependencia (EDAD 2008) del Instituto Nacional de Estadística (INE). Se han comparado los datos de salud de 2840 sujetos con discapacidad intelectual para analizar las diferencias en sus perfiles de salud. Resultados: En los centros residenciales hay una mayor proporción de personas con DI profunda y severa, de edad más avanzada y con mayor prevalencia de enfermedades crónicas. Las personas con niveles más graves de DI presentan un mayor número de diagnósticos de enfermedades. Conclusión: Los perfiles de salud de las personas con DI difieren en función de su grado de institucionalización y su nivel de DI. Es necesario seguir investigando para ofrecer una mejor atención sanitaria a las personas con DI.

Nuevas consideraciones sobre la salud de las personas con trastornos del desarrollo intelectual / New considerations on the health of the persons with intellectual developmental disorders

Resumen: La literatura reciente indica que las personas con trastornos del desarrollo intelectual (TDI) presentan diferencias respecto de la población general en cuanto a la prevalencia de determinadas enfermedades y a la atención sanitaria que reciben. El conocimiento actual con base en la evidencia es aún muy escaso en países no anglosajones. Los proyectos europeos POMONA-I y POMONA-II tenían el objetivo de recoger información sobre el estado de salud de las personas con TDI en Europa. Actualmente, el proyecto POMONA-ESP en España pretende recoger dicha información en una muestra amplia y representativa de personas con TDI. También se están llevando a cabo otros estudios sobre la necesidad de contar con servicios especializados y sobre la formación que reciben los profesionales sanitarios sobre TDI. En este artículo se revisan las últimas evidencias sobre la salud de las personas con TDI y se exponen las principales actividades de investigación y asistencia sanitaria sobre este tema.

Abstract: Recent literature indicates that people with Disorders of Intellectual Development (DID) experience health disparities in the pathologies that they present, and a worst access to health care. However, current evidence-based knowledge is still sparse outside the Anglo-Saxon countries. The POMONA-I and POMONA-II European projects aimed to collect information on the health status of people with DID in Europe. The POMONA-ESP project in Spain is meant to collect health information in a wide and representative sample of persons with DID. Also, there are studies that claim for the need of specialized services for people with DID at the public health system. There are also studies about the current state of the education and training about DID for students within the health sector. In this paper we review the latest evidences about the health of the persons with DID and we present the main research activities and care initiatives about this issue.

Body mass index and waist circumference of Latin American adult athletes with intellectual disability / Índice de masa corporal y circunferencia de cintura en atletas adultos latinoamericanos con discapacidad intelectual

Abstract: Objectives: To examine both body mass index (BMI) status and waist circunference (WC) in a large international sample of adult Special Olympics participants from Latin America. It also explored the association of age and sex with obesity in this population. Materials and methods: BMI and WC records from a total of 4174 (2683 male and 1491 female) participant records from the Special Olympics International Health Promotion database were examined. Results: The prevalence of overweight and obesity was quite high (i.e. > 40%), but generally lower than studies involving adults with intellectual disabilities from Europe and the USA. Chi-square analyses revealed that both increasing age and being female significantly predicted levels of overweight, obesity, and WC. Conclusions: These results suggest that efforts need to be made to prevent and reduce rates of overweight and obesity among Latin American Special Olympics participants, particularly women.

Resumen: Objetivos: Examinar tanto el estado de índice de masa corporal (IMC) como la circunferencia de cintura (WC) en una muestra significantemente grande de participantes internacionales de Olimpiadas Especiales de América Latina. También este estudio exploró la asociación de la edad y el género con la obesidad en esta población. Material y métodos: Se examinaron los registros de IMC y WC de un total de 4174 (2683 hombres y 1491 mujeres) del banco de datos de la Promoción Internacional de la Salud de Special Olympics (Special Olympics International Health Promotion). Resultados: El predominio de sobrepeso y obesidad fue bastante alta (es decir, > 40%), pero generalmente menor en comparación con los estudios con adultos con discapacidad intelectual de Europa y los Estados Unidos. El análisis Ji cuadrada reveló que tanto el aumento de la edad y ser mujer predijo significativamente los niveles de sobrepeso, obesidad y WC. Conclusiones: Estos resultados sugieren que hay que hacer esfuerzos para prevenir y reducir las tasas de sobrepeso y obesidad entre los participantes de las Olimpiadas Especiales de América Latina, particularmente las mujeres.

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study / Tamiz bioquímico y metabolómico en el estudio de los trastornos del desarrollo intelectual en México

Abstract: Objective: Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods: Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD. Conclusion: Identification of new metabolomic profiles associated with IDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico.

Resumen: Objetivo: Los errores innatos del metabolismo (EIM) son condiciones genéticas que pueden asociarse con trastornos del desarrollo intelectual (TDI). El objetivo de este estudio es contribuir a la caracterización metabólica de los pacientes con TDI de etiología desconocida. Material y métodos: Se realizará un tamiz metabólico mediante espectrometría de masas-tándem y fluorometría para descartar EIM; además, se analizará el perfil metabolómico de los pacientes con TDI. Conclusión: La identificación de perfiles metabolómicos asociados con los TDI de etiología desconocida contribuirá al desarrollo de nuevos esquemas diagnósticos y terapéuticos para la prevención y tratamiento de los TDI en México.

Acceso y morbilidad hospitalaria en personas con trastornos del desarrollo intelectual / Hospital admissions and morbidity in people with intellectual developmental disorders

Resumen: Objetivo: Las personas con trastornos del desarrollo intelectual (TDI) suelen presentar peor estado de salud que la población general. El objetivo de este estudio es evaluar el acceso y la morbimortalidad hospitalaria en los pacientes con TDI y compararla con la población general. Material y métodos: Se realizó un estudio transversal retrospectivo y se compararon los datos de los ingresos y altas hospitalarias entre pacientes con TDI y sin dichos transtornos, en Ciudad Real, España. Resultados: De un total de 51 325 altas, 441 (0.9%) correspondían a personas con TDI. Estas personas presentaban significativamente menos ingresos programados que la población general y menos intervenciones quirúrgicas y, a su vez, más ingresos debidos a enfermedades mentales y del sistema respiratorio. Conclusiones: Las personas con TDI tienen patrones de morbilidad diferentes a los del resto de la población. Además este estudio revela posibles dificultades en el acceso a la atención sanitaria en estas personas.

Abstract: Objective: People with intellectual developmental disorders (IDD) have worse health statuses in comparison with general population. The objective of this paper is to compare access and hospital morbimortality in people with IDD and general population. Material and methods: We conducted a retrospective cross-sectional analytical study and analyzed data on admissions and discharges between IDD patients and the rest of them, in Ciudad Real, España. Results: Out of 51 325 hospital admissions, 441 (0.9%) belonged to the group of persons with IDD. The IDD group had fewer programmed hospitalization than the general population and fewer surgical interventions. They presented more admissions for mental disorders and respiratory system diseases. Conclusions: The data presented confirm TDI population have different patterns of disease. Furthermore, this study reveal potential difficulties in access to health care in this population.

Disability due to maternal common mental disorders (CMDs) as a risk factor for chronic childhood malnutrition: cross-sectional study / Incapacidade decorrente de transtornos mentais comuns (TMC) maternos como fator de risco para desnutrição crônica infantil: estudo transversal

ABSTRACT: CONTEXT AND OBJECTIVE: The disability associated with maternal common mental disorders (CMDs) is among the possible explanations for the association between chronic childhood malnutrition and CMDs. CMDs may impair the mother's ability to perform her role, particularly in deprived environments. The present study aimed to evaluate whether disability relating to CMDs could be part of the pathway of the association between childhood malnutrition and maternal CMDs. DESIGN AND SETTING: Cross-sectional study conducted in two institutions: one for malnourished children and another for eutrophic children living in a low-income community in the state of Alagoas, Brazil. METHOD: The cases consisted of 55 malnourished children aged from 12 to 60 months who were attending a nutritional rehabilitation center, with height-for-age z-scores < 2. The controls were 70 eutrophic children of the same age who were attending a day care center in the same area as the cases. The Self-Report Questionnaire made it possible to identify likely cases of maternal CMD. The Sheehan Disability Scale enabled evaluation of the associated disability. RESULTS: Chronic childhood malnutrition was significantly associated with maternal disability relating to CMDs (OR = 2.28; 95% CI: 1.02-5.1). The best logistic regression model using chronic childhood malnutrition as the dependent variable included the following independent variables: higher number of people living in the household; absence of the biological father from the household; and maternal disability relating to CMDs. CONCLUSIONS: If confirmed, the association between chronic childhood malnutrition and maternal disability relating to CMDs may be useful in helping to identify the causal chain between childhood malnutrition and maternal CMDs and to indicate environmental risk factors associated with chronic childhood malnutrition.

RESUMO: CONTEXTO E OBJETIVO: A incapacidade associada aos transtornos mentais comuns (TMCs) maternos está entre as explicações possíveis para a associação entre a desnutrição infantil crônica e os TMCs. Os TMCs podem comprometer a capacidade materna de desempenhar seu papel, especialmente em ambientes precários. O presente estudo objetivou avaliar se a incapacidade relacionada com TMCs pode fazer parte do processo de associação entre a desnutrição infantil e TMCs maternos. DESENHO E LOCALIZAÇÃO: Estudo transversal realizado em duas instituições, uma para crianças desnutridas e outra para crianças eutróficas vivendo em uma comunidade de baixa renda no estado de Alagoas, Brasil. METODOLOGIA: Casos foram 55 crianças desnutridas de 12 a 60 meses atendidas num centro de recuperação nutricional com escore z da idade para altura < 2. Controles foram 70 crianças eutróficas da mesma idade que frequentavam uma creche na mesma área do que os casos. O "Self-Report Questionnaire" permitiu identificar casos prováveis de TMCs maternos; a "Sheehan Disability Scale" possibilitou a avaliação de incapacidade associada. RESULTADOS: A desnutrição crônica infantil e a incapacidade maternal relacionada ao TMCs mostraram-se associados (OR = 2.28, IC 95% 1.02-5.1). O melhor modelo de regressão logística utilizando desnutrição crônica infantil como variável dependente incluiu um maior número de residentes na casa, ausência do pai biológico na residência e incapacidade materna relacionada ao TMCs como variáveis independentes. CONCLUSÕES: Se confirmada, a associação entre desnutrição crônica infantil e incapacidade materna relacionada a TMCs pode ser útil para ajudar a identificar a cadeia causal entre a desnutrição infantil e os TMCs maternos e indicar fatores de risco ambientais associados com a desnutrição crônica infantil.

Co-occurrence of communication disorder and psychiatric disorders in maltreated children and adolescents: relationship with global functioning

Objective: To study the co-occurrence of psychiatric disorders (PD) and communication disorders (CD) and their relationship with global functioning in maltreated children and adolescents. Methods: The sample comprised 143 maltreated children and adolescents (55.8% male). All underwent clinical communication and psychiatric evaluations, as well as global functioning assessment using the Children’s Global Assessment Scale (C-GAS). Results: Four groups emerged from evaluation: Group 1 (n=7, 4.9%) did not exhibit any disorders; Group 2 (n=26, 18.2%) exhibited PD; Group 3 (n=34, 23.8%) exhibited CD; and Group 4 (n=76, 53.1%) exhibited both PD and CD on evaluation. Significant differences in global functioning scores were found between G1 and G2, G1 and G4, G2 and G4, and G3 and G4, with the highest C-GAS scores found in G1 and the lowest in G4. Conclusion: Rates of PD and CD are high in this maltreated population. The presence of PD has a major impact on C-GAS score, and the simultaneous presence of CD increases the already impaired function of PD. Demonstration of the additive effects of PD and CD on youth functioning suggests that professionals should be alert to the presence of both disorders to better act preventively and therapeutically in a high-risk population.

Prevalence of neurobehavioral symptoms among sixth grade school students with low scholastic achievement in Assiut City

This study was designed to determine the prevalence of neurobehavioral symptoms among sixth grade primary school students with low scholastic achievement in Assiut city at Upper Egypt. This is a cross sectional study conducted among 4363 six grade students at 38 governmental primary schools in Assiut City screening of neurobehavioral symptoms that may be associated with low scholastic achievement [school marks;<70% in previous year] compared to students with school marks >/= 70% out of 1120 students 762 students proved to have low scholastic achievements and another 600 students with good scholastic achievement were randomly selected as control group. Both groups were screened for neurobehavioral symptoms by application of 1] validated standardized Arabic screening questions aire for screening most common neurological disorders [El-Tallway et al., 2010] followed by complete clinical and neurological assessment for those who screened positive for any of neurological disorders 2]. Child behavior checklist [youth form][Achenbach, 1991]. 3] Assessment of socioeconomic state by using socioeconomic scale [Abd-Eltawab, 2010].4] Assessment of reading skills by using Schonell's test. 5] Assessment of intelligence level by application of Stand ford Binet 4th edition. Out of 4363 students, 1120 students were identified with low scholastic achievement, with prevalence rate [25.7%]. It was higher among males than females [66.8% and 33.2% respectively]. About 25.1% of them had neurological disorders whereas headache was the most frequent symptom followed by nocturnal enuresis and epilepsy [14%; 7.2% and 3.1% respectively]. There is significant difference in all scales among poor and good academic achievers [P<0.001] with higher scores of externalized syndromes than that of internalized syndromes [12.1 +/- 4 vs. 8.6 +/- 3.6 respectively] among poor achievers. Most of these students [99%] had below average intelligence [IQ scores<90] and higher behavior problem scores. Moreover, more than two thirds of them [73.2%] were poor readers. High prevalence rate of neurobehavioral symptoms was recorded among students with low scholastic achievement compared to students with normal scholastic achievement. Early identification of those high risky students and early intervention by primary care physician in schools could improve their scholastic achievement and education system outcome

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

BACKGROUND: Mental retardation (MR) has a prevalence of 1‑3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4‑28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15‑25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. MATERIALS AND METHODS: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. RESULTS: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re‑evaluation) are removed. CONCLUSION: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.