Educação sexual: dificuldades dos pais de jovens com síndrome de down / Sex education: difficulties for parents of young people with down syndrome / Educación sexual: dificultades para los padres de jóvenes con síndrome de down

Com este estudo buscou-se conhecer as dificuldades e barreiras de pais na educação sexual de jovens com Síndrome de Down, a partir de uma pesquisa descritiva e de natureza qualitativa, utilizando-se o conceito das representações sociais como referencial teórico-metodológico. O estudo foi conduzido em uma Organização Não Governamental (ONG), localizada em Recife (PE), após aprovação do Comitê de Ética e Pesquisa, sob parecer consubstanciado 3.558.587. A amostra do estudo envolveu 11 pais de jovens com Síndrome de Down com idades entre 15 e 24 anos. A coleta de dados foi realizada por meio de entrevistas semiestruturadas. A abordagem escolhida para a interpretação desses dados foi a análise de conteúdo proposta por Bardin. Pode-se elencar como principais dificuldades enfrentadas pelos pais ao conversarem com seus filhos sobre sexualidade: a infantilização do jovem com Síndrome de Down, julgando-o incapaz de experienciar tais fenômenos e compreender a orientação que pudesse ser repassada; o medo em ultrapassar etapas e, de repente, "estimular" o filho a viver sua sexualidade de maneira "precoce"; e o fato de os pais também terem recebido pouca ou nenhuma orientação sexual por parte de suas famílias. Diante das narrativas dos pais, é possível perceber que ainda são muitos os mitos, tabus e preconceitos que permeiam a sexualidade dos jovens com Síndrome de Down, demonstrando que os responsáveis estão despreparados para dar as devidas orientações.(AU)

This study sought to know the difficulties and barriers of parents in the sexual education of young people with Down Syndrome, from a descriptive, qualitative study, using the concept of social representations as a theoretical-methodological framework. The study was conducted in a Non-Governmental Organization (NGO), located in Recife (PE) after approval by the Ethics and Research Committee, under substantiated opinion 3,558,587. The study sample involved 11 parents of young people with Down Syndrome aged between 15 and 24 years. The data collection was carried out by using semi-structured interviews. The approach chosen for interpretation of these data was the content analysis proposed by Bardin. The main difficulties faced by parents in talking with their children about sexuality can be listed as: the infantilization of young persons with Down Syndrome, deeming them incapable of experiencing such phenomena and understanding the guidance that could be given; the fear of overshooting the stages and, suddenly, "stimulating" the child to live their sexuality in an "early" way; and the facts of the parents also having received little or no sexual guidance from their families. Given the parents' narratives, it is possible to realize that there are still many myths, taboos, and prejudices that permeate the sexuality of young people with Down Syndrome, demonstrating that parents were unprepared to provide the right guidance.(AU)

Este estudio buscó conocer las dificultades y barreras de los padres en la educación sexual de los jóvenes con síndrome de Down a partir de un estudio descriptivo, cualitativo, que utilizó el concepto de representaciones sociales como marco teórico-metodológico. La investigación se llevó a cabo en una Organización No Gubernamental (ONG), ubicada en la ciudad de Recife (Pernambuco, Brasil), después de la aprobación del Comité de Ética e Investigación, bajo la opinión fundamentada 3.558.587. La muestra del estudio incluyó a 11 padres de jóvenes con síndrome de Down con edades comprendidas entre 15 y 24 años. La recolección de datos se realizó mediante entrevista semiestructurada. El enfoque elegido para la interpretación de los datos fue el análisis de contenido propuesto por Bardin. Pueden enumerarse como las principales dificultades que enfrentan los padres para hablar sobre la sexualidad con sus hijos: la infantilización del joven con síndrome de Down, considerándolo incapaz de experimentar tales fenómenos y comprender la orientación que se le puede dar; el miedo de ir más allá de las etapas y, de repente, "estimular" al niño a vivir su sexualidad de una manera "temprana"; y el hecho de que los padres también habían recibido poca o ninguna orientación sexual de sus familias. Dadas las narraciones de los padres, es posible darse cuenta de que todavía hay muchos mitos, tabúes y prejuicios sobre la sexualidad de los jóvenes con síndrome de Down, lo que muestra que los padres no estaban preparados para brindarles este tipo de orientación.(AU)

Percepción de la calidad de vida en para-deportistas y no deportistas chilenos con lesión cerebral / Perception of quality of life in chilean para-athletes and non-athletes with brain injury

Cornejo, M. I., Henríquez, M., Herrera, F., Muñoz, F., Bernardes, N., Auricchio, J. R., y Castelli-Correia de Campos, L. F. (2022). Percepción de la calidad de vida en para- deportistas y no deportistas chilenos con lesión cerebral. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 20 (2), 1-18. La calidad de vida (CV) y la actividad física son aspectos relevantes en la salud de la población, y esta última con un impacto positivo en las personas con discapacidad. Debido a esto, los objetivos de este estudio fueron comparar las características e identificar la asociación entre los dominios de la percepción de la CV entre un grupo de personas con lesión cerebral que practican fútbol, para-deportistas (PD) y personas con lesión cerebral no para-deportistas (NPD), además determinar si existen diferencias en la percepción de la CV según las diferentes clases deportivas (FT1, FT2 y FT3). El estudio se desarrolló en Chile, donde se aplicó el cuestionario WHOQOL-BREF para determinar la CV de los participantes. Los resultados identificaron una relación positiva y significativa entre los distintos dominios de la CV (p < .001, r = .44 - .67). Además, se observó una mejor percepción de la CV en los PD (p < .001, TE = 1.18, grande) en comparación con lo reportado por el grupo NPD. Por otro lado, no se obtuvieron diferencias significativas entre los dominios para las diferentes clases deportivas en el grupo PD. Estos datos refuerzan la idea de que la práctica deportiva influye en la participación social y en la percepción de la CV en PD con lesión cerebral. El desarrollo conjunto de los factores asociados entre la salud y el bienestar socioemocional podrían colaborar con la consolidación de la práctica deportiva y de actividad física, los cuales, a su vez son beneficiosos para las personas con discapacidad tal como lo plantean los objetivos del desarrollo sostenible en su agenda de trabajo provista al año 2030.

Cornejo, M. I., Henríquez, M., Herrera, F., Muñoz, F., Bernardes, N., Auricchio, J. R., y Castelli-Correia de Campos, L. F. (2022). Perception of quality of life in chilean para-athletes and non-athletes with brain injury. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 20 (2), 1-16. Quality of life (QOL) and physical activity are relevant aspects in the health of the population, and the latter has a positive impact on people with disabilities. For this reason, the objectives of this study were to compare the characteristics and identify the association between the domains of QOL perception between a group of people with brain injury who practice soccer, para-athletes (PD) and non-para-athletes with brain injury (NPD), as well as to determine if there are differences in the perception of QOL according to the different sports classes (FT1, FT2 and FT3). The study was carried out in Chile, where the WHOQOL-BREF questionnaire was applied to determine the QOL of participants. The results identified a positive and significant relationship between the different domains of QOL (p < .001, r = .44 - .67). In addition, a better perception of QoL was observed in the PDs (p < .001, TE = 1.18, large) compared to that reported by the NPD group. On the other hand, no significant differences between domains were obtained for the different sport classes in the PD group. These data reinforce the idea that sport practice influences social participation and perception of QoL in PD with brain injury. The joint development of the factors associated between health and socioemotional well-being could collaborate in the consolidation of sports practice and physical activity, which, in turn, are beneficial for people with disabilities, as proposed by the Sustainable Development Goals in their work agenda foreseen for the year 2030.

Cornejo, M. I., Henríquez, M., Herrera, F., Muñoz, F., Bernardes, N., Auricchio, J. R., y Castelli-Correia de Campos, L. F. (2022). Percepção da qualidade de vida em paratletas e não-atletas chilenos com lesões cerebrais. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 20 (2), 1-16. Qualidade de vida (QV) e atividade física são aspectos relevantes da saúde da população, tendo esta última um impacto positivo sobre as pessoas com deficiências. Portanto, os objetivos deste estudo foram comparar as características e identificar a associação entre os domínios da percepção de QV entre um grupo de pessoas com lesões cerebrais que praticam futebol, paratletas (P) e pessoas com lesões cerebrais não paratletas (NP), e determinar se existem diferenças na percepção de QV de acordo com as diferentes classes esportivas (FT1, FT2 e FT3). O estudo foi realizado no Chile, onde o questionário WHOQOL-BREF foi utilizado para determinar o QV dos participantes. Os resultados identificaram uma relação positiva e significativa entre os diferentes domínios da QV (p < 0,001, r = 0,44 - 0,67). Além disso, uma melhor percepção de QV foi observada nos Ps (p < 0,001, TE = 1,18, grande) em comparação com a relatada pelo grupo NP. Por outro lado, não foram obtidas diferenças significativas entre os domínios para as diferentes classes esportivas do grupo P. Estes dados reforçam a ideia de que a prática esportiva influencia a participação social e a percepção da QV nos P com lesão cerebral. O desenvolvimento conjunto de fatores associados à saúde e ao bem-estar socioemocional poderia contribuir para a consolidação da prática do esporte e da atividade física, que, por sua vez, são benéficos para as pessoas com deficiência, conforme estabelecido nas Metas de Desenvolvimento Sustentável em sua agenda para 2030.

Carga de la enfermedad y costos en salud por la exposición a mercurio: revisión de alcance / Burden of disease and health costs from mercury exposure: Scoping review

Resumen Introducción: El mercurio circula por el aire; persiste en suelos, sedimentos y agua, y causa efectos en la salud humana. Las mujeres en edad fértil y los neonatos son la población más vulnerable. Objetivo: Analizar las evidencias sobre la carga de enfermedad ocasionada por la exposición a mercurio, así como el impacto económico sobre el sistema de salud. Metodología: Revisión de alcance de la literatura, de las bases de datos PUBMED y EPISTEMONIKOS, búsqueda manual de documentos técnicos de entidades oficiales de diferentes continentes. Resultados: Se identificaron 311 registros en bases de datos y 4 en búsqueda manual en entidades oficiales; 19 artículos fueron incluidos. Discusión: Predomina la afectación del desarrollo neurológico y cognitivo en niños de madres expuestas y lactantes. Los costos se midieron por la pérdida del coeficiente intelectual. Conclusión: Efectos en salud por la exposición a metilmercurio se traducen en gastos para la sociedad y los sistemas de salud.

Abstract Introduction: Mercury circulates through the air, persists in soils, sediments and water, and can affect human health. Women of childbearing age and newborns are the most vulnerable population. Objective: To analyze the evidence on the burden of disease caused by mercury exposure, as well as the economic impact on the health system. Methodology: Review of the literature, PUBMED and EPISTEMONIKOS databases, manual search of technical documents of official entities from different continents. Results: A total of 311 records were identified in databases and four in manual searches from official entities; 19 articles were included. Discussion: Neurological and cognitive development in children of exposed mothers and infants are more predominant. Costs were measured by IQ loss. Conclusion: Health effects of methylmercury exposure translate into costs for society and health systems.

Alta prevalencia de discapacidad intelectual y de comportamiento en niños de 2-17 años, Honduras 2017 / High prevalence of intellectual and behavioral disability in children aged 2-17 years, Honduras 2017

En Honduras el último registro de discapacidad en niños fue en el 2002 y se considera que su valor pudo ser subestimado. Objetivo: Determinar la prevalencia de discapacidad en niños de 2-17 años, Honduras 2017. Métodos: Estudio descriptivo transversal. Estudiantes del último año de la Carrera de Medicina, Universidad Nacional Autónoma de Honduras (UNAH), visitaron 50 casas de las comunidades asignadas mediante muestreo polietápico. Se encuestaron cuidadores adultos de niños de 2-17 años aplicando Instrumento del Grupo de Washington, previo consentimiento/asentimiento informado. Se realizó análisis univariado (frecuencias, porcentajes, prevalencias, IC95%) y bivariado (diferencia de proporciones, p<0.05 se consideró significativo). Resultados: Prevalencia de discapacidad en niños fue 8.96% (IC95% 8.5-9.4), departamentos con prevalencia ≥10%: El Paraíso, Francisco Morazán, Santa Bárbara, Cortés y Comayagua. Se identificó mayor prevalencia en sexo masculino, edad 5-17 años, nivel de escolaridad medio y secundaria y relación inversa entre discapacidad con escolaridad del cuidador y nivel de ingresos del hogar (p<0.01). El tipo de discapacidad encontrado fue intelectual y conductual: comportamiento (1.9%) y comunicación (2.4%) en edad 2-4 años, y comportamiento, aprendizaje, atención y comunicación en edad 5-17 años (prevalencia≥2%). El 80% no había recibido atención alguna. Discusión: La discapacidad en los niños de Honduras es mayor de lo reportado, y estos niños están desatendidos por lo que podrían ser adultos dependientes a futuro. Debe educarse a quienes atienden la primera infancia en identificar la discapacidad en niños y crear políticas públicas que generen mayor atención e inclusión...(AU)

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso / Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

La distonía por mutación en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofaríngeo, disartria, trastorno secundario de la deglución y discapacidad intelectual. Se describe el caso de una escolar de 10 años de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurológica, que presentó alteración de la marcha y distonía de inicio focal, de curso progresivo a una forma generalizada que afectó sus músculos orofaciales y bulbares con alteración significativa del lenguaje y la deglución. Los estudios metabólicos y sistémicos, incluidas las neuroimágenes, no evidenciaron anormalidades. Se hizo una secuenciación genómica completa y se identificó una nueva variante, probablemente patogénica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la distonía de inicio temprano autosómica dominante. Se reporta una nueva mutación heterocigota del gen KMT2B como causa de distonía generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagnóstico de esta afección tiene implicaciones en el tratamiento y el pronóstico de los pacientes, porque las estrategias terapéuticas tempranas pueden prevenir su rápido deterioro y un curso más grave de la enfermedad.

Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing. Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient's phenotype and it is associated to autosomal dominant childhood-onset dystonia-28. Conclusion: We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.

Identificación de aberraciones cromosómicas en una población infantil costarricense con discapacidad intelectual idiopática / Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability

Resumen La prevalencia mundial de la discapacidad intelectual (DI) es del 3 %. Una de las causas más comunes de DI de origen genético son las aberraciones cromosómicas, las cuales resultan fácilmente detectables mediante un cariotipo. Sin embargo, muchas de estas pasan desapercibidas durante el análisis citogenético convencional debido a su tamaño. Estas pequeñas alteraciones se pueden localizar en los subtelómeros y se ha observado que, cuando es así, constituyen una razón importante de DI en pacientes que carecen de un diagnóstico de causalidad. En este estudio de tipo observacional, se utilizó la técnica MLPA con el objetivo de determinar la frecuencia de aberraciones cromosómicas submicroscópicas en los subtelómeros en una población infantil con DI de origen desconocido. Se examinaron 70 muestras de forma exitosa y se obtuvo un caso con una microduplicación en el subtelómero 17p, para una frecuencia del 1,4 %. También, se realizó el análisis citogenético en 33 muestras y se encontró un caso con una aberración cromosómica detectable al microscopio, para una frecuencia del 3 %. El porcentaje de aberraciones cromosómicas subteloméricas fue menor al esperado en comparación con estudios similares. Finalmente, se concluyó que el cariotipo y la técnica MLPA se complementan para el abordaje de personas con DI de origen desconocido.

Abstract The prevalence of intellectual disability (ID) in the global population is 3%. One of the most frequent cause of ID are chromosome aberrations, which are easily detected by a karyotype. However, many of these maygoundetected during a conventional cytogenetic analysis because of their length.These small alterations can be localized in the subtelomeres and it has been observed that when localized there, they are an important cause of ID in patients without a causality diagnostic. In this observational study, we use the MLPA technique for the purpose of identifying the frequency of submicroscopicsubtelomere chromosomal aberrations in a population of people with ID of unknown origin. 70 samples were successfully analyzed with MLPA and we found one case with a microduplication in the 17p subtelomere for a frequency of 1,4%. Also,the karyotype was performed in 33cases, and we foundone case with a chromosome aberration that can be detect by microscope for a frequency of 3%. The subtelomeric chromosome aberration frequency was lower than expected as we compare our results with similar studies. Finally, with this work we conclude that the karyotype and the MLPA technique complement each other for approaching people with ID of unknown origin.

General, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11-2 deletion syndrome / Funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com síndrome de deleção 22q11-2

BACKGROUND: Cognitive dysfunctions are frequently found in the 22q11.2 Deletion Syndrome, being an aggravating factor in the impairment of social relationships and communication, strongly impacting the functionality of the individual. Increasing the knowledge regarding cognitive skills may provide contributions to the diagnostic process and the intervention planning. OBJECTIVES: To estimate the general, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome. METHODS: This is a cross-sectional, descriptive, and case series study regarding 15 individuals between 7-18 years-old diagnosed with 22q11.2 Deletion Syndrome. An assessment of the cognitive functions was performed using the Wechsler Abbreviated Scale of Intelligence (WASI). For data analysis we used a descriptive statistics analysis, having absolute frequencies for variables, and mean, median, standard deviation, minimum and maximum values for numerical variables. RESULTS: In the group analysis, we observed an important cognitive impairment degree. Most of the sampling (n=8; 53.33%) presented a considerably low total intelligence quotient score. Cases showing lower performances also presented greater difficulties regarding Visual Motor and Visuospatial coordination. Regarding the intelligence quotient representative punctuation in the WASI scale, the sample showed a large variability in the results (between 40 and 92 points), with the median total of 83. CONCLUSIONS: We observed important dysfunctions, cognitive difficulties, and intellectual, verbal, and non-verbal disabilities in the population studied. These findings indicate the need for an early intervention to assist not only the cognitive aspect, but also the socio-emotional development of children with the 22q11.2 Deletion Syndrome, aiming at their participation in society.

FUNDAMENTO: Disfunções cognitivas são frequentemente encontradas na Síndrome de Deleção 22q11.2, sendo um agravante no comprometimento das relações sociais e da comunicação, impactando fortemente na funcionalidade do indivíduo. O aumento do conhecimento sobre as habilidades cognitivas pode trazer contribuições no processo diagnóstico e no planejamento da intervenção. OBJETIVO: Estimar o funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com Síndrome de Deleção 22q11.2. MÉTODOS: Estudo transversal, descritivo, tipo série de casos, com 15 indivíduos entre 7-18 anos com diagnóstico da Síndrome de Deleção 22q11.2. A avaliação das habilidades cognitivas foi realizada com a Escala Wechsler Abreviada de Inteligência (WASI). Para análise dos dados, foi utilizada análise estatística descritiva, com frequências absolutas para variáveis, e média, mediana, desvio padrão, mínima e máximo para variáveis numéricas. RESULTADOS: Na análise do grupo, observou-se um importante grau de comprometimento cognitivo. A maior parte da amostra (n=8; 53,33%) mostrou quociente de inteligência total extremamente baixo. Os casos com desempenhos mais baixos apresentaram maiores dificuldades em relação às habilidades de coordenação visuomotora e visuoespacial. Em relação à pontuação representativa do quociente de inteligência na escala WASI, a amostra apresentou uma grande variabilidade de resultados (entre 40 a 92 pontos), com mediana total de 83 pontos. CONCLUSÕES: As dificuldades cognitivas encontradas indicam a necessidade de uma intervenção precoce para auxiliar não só no desenvolvimento cognitivo, mas socioemocional de crianças com a Síndrome de Deleção 22q11.2 visando sua participação na sociedade.

Psychosocial challenges of children with disabilities in Sekhukhune District, Limpopo province of South Africa: Towards a responsive integrated disability strategy

Disability, and everything it encompasses, presents major challenges to individuals, families and communities worldwide. Children with disabilities (CWD) are marginalised and excluded in most societies. Discrimination and prejudice towards CWD are compounded by poverty, lack of essential services and support and sometimes a hostile and inaccessible environment. Objectives: The study sought to examine the psychosocial challenges experienced by CWD in the Sekhukhune district of Limpopo province, South Africa. Based on the identified, articulated and expressed challenges, the study sought to recommend improvement of the existing Integrated National Disability Strategy (INDS) for greater responsiveness to the needs of CWD at both provincial and local levels. Method: The interpretivist qualitative mode of enquiry was the chosen methodology for this study. Phenomenology and descriptive research designs guided the study. Purposive sampling was employed, and data were collected from 36 participants using three triangulated methods: individual in-depth interviews, focus group discussions and key informant interviews. Thematic data analysis was used to analyze data. Results: The findings revealed that CWD in Sekhukhune experienced numerous challenges which affected their social functioning, development and general well-being. Aggravating factors included stigma, labelling and discrimination; disability-specific discrimination and bullying; exclusive education; sexual exploitation; lack of governmental support and poor implementation of disability-specific policies, amongst others. Conclusion: The provisions of the INDS to promote inclusion, integration, mainstreaming and equitable access to resources and services remained an ideal rather than a reality for CWD in Sekhukhune.

Análise das internações psiquiátricas pelo sus no piauí, brasil, de 2008 a 2020 / Analysis of the psychiatric hospitalizations through the sus in piauí, brazil, from 2008 to 2020 / Análisis de las internaciones psiquiátricas a través del sus en piauí, brasil, entre 2008 y 2020

RESUMO Objetivo analisar o comportamento de dados de internações psiquiátricas, no Piauí, no período de 2008 a 2020. Método estudo ecológico com dados secundários de internações psiquiátricas, de 2008 a 2020, no Piauí - Brasil, do Sistema de Informações Hospitalares/DATASUS. Análise descritiva e regressão linear foram realizadas. Resultados foram encontradas 40.608 internações psiquiátricas. As principais causas foram esquizofrenia (17.877) e transtornos de humor (8.239). Retardo mental e esquizofrenia tiveram maior custo e média de permanência. De 2009 a 2012, houve decréscimo de internações e, entre 2016 e 2019, houve aumento, independente da idade e do sexo. As internações foram mais frequentes entre adultos (94,4%) e homens (62,4%). Conclusão a diminuição de internações psiquiátricas no Piauí, de 2009 a 2012, coincide com o fechamento do hospital psiquiátrico do estado e o fortalecimento da Rede de Atenção Psicossocial. Os dados refletem políticas de saúde mental anteriores e permitem planejamento de estratégias de saúde.

ABSTRACT Objective: to analyze the behavior of data referring to psychiatric hospitalizations in Piauí between 2008 and 2020. Method an ecological study conducted with secondary data referring to psychiatric hospitalizations between 2008 and 2020 in Piauí, obtained from the Hospital Information System/DATASUS. Descriptive and linear regression analyses were performed. Results a total of 40,608 psychiatric hospitalizations were found. The main causes were schizophrenia (17,877) and mood disorders (8,239). Mental retardation and schizophrenia presented higher costs and mean hospitalization times. A reduction in the number of hospitalization was recorded from 2009 to 2012 and there was increase between 2016 and 2019, regardless of age and gender. Hospitalizations were more frequent among adults (94.4%) and men (62.4%). Conclusion the reduction in the number of psychiatric hospitalizations in Piauí from 2009 to 2012 coincides with the closing of the state's psychiatric hospital and with the strengthening of the Psychosocial Care Network. The data reflect previous mental health policies and allow planning health strategies.

RESUMEN Objetivo analizar el comportamiento de datos referentes a internaciones psiquiátricas en Piauí, entre 2008 y 2020. Método estudio ecológico realizado con datos secundarios referentes a internaciones psiquiátricas entre 2008 y 2020 en Piauí, Brasil, obtenidos del Sistema de Información Hospitalaria/DATASUS. Se realizó un análisis descriptivo y otro de regresión lineal. Resultados se encontró un total de 40.608 internaciones psiquiátricas. Las causas principales fueron esquizofrenia (17.877) y trastornos del estado de ánimo (8.239). Retraso mental y esquizofrenia presentaron mayores costos y tiempo medio de internación. De 2009 a 2012 se registró una caída en la cantidad de internaciones y entre 2016 y 2019 hubo un aumento, independientemente del sexo. Las internaciones fueron más frecuentes en adultos (94,4%) y en hombres (62,4%). Conclusión la reducción en la cantidad de internaciones psiquiátricas en Piauí registrada entre 2009 y 2012 coincide con el cierre del hospital psiquiátrico en el estado y con el fortalecimiento de la Red de Atención Psicosocial. Los datos reflejan políticas de salud mental anteriores en el tiempo y permiten planificar estrategias de salud.

Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome / 中华儿科杂志

Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review / 中南大学学报(医学版)

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Clinical and genetic analysis of a child with mental retardation autosomal dominant 7 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face.@*METHODS@#The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants.@*RESULTS@#The clinical manifestations of the child were overall developmental backwardness, seizures, autism, and special facial appearance. High throughput sequencing showed that there was a heterozygous mutation of exon 11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) of the DYRK1A gene. The same variant was found in neither of her parents, suggesting that it has a denovo origin.@*CONCLUSION@#The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.

Clinical and genetic analysis of two rare male patients with Rett syndrome / 中华医学遗传学杂志

OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.

De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis.@*METHODS@#Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed.@*RESULTS@#The main manifestations of 2 children were epilepsy, motor or intellectual retardation. Whole exon sequencing showed that CSNK2B gene c. 291+4A>T heterozygous splicing variant was found in case one, and CSNK2B copy number variation(CNV) was lost in case two. Case one received no special treatment, followed up for 8+ months, seizures and motor development were improved; case two had recurrent seizures for 9+ years, and received levetiracetam and clonazepam antiepileptic treatment. No seizures have occurred for 2 years now, and a large number of epileptic discharges can still be seen in video electroencephalogram (VEEG) with slightly backward intelligence and language development.@*CONCLUSION@#Our study further proves that the pathogenic variant of CSNK2B is related to epilepsy with developmental disorder, and enrich is the CSNK2B gene variant spectrum. The pathogenesis of CSNK2B has great clinical heterogeneity, with great difference in severity of nervous system injury and different prognosis, and agenesis of corpus callosum may be one of its clinical phenotypes.

Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene / 中华医学遗传学杂志

OBJECTIVE@#To summarize the clinical phenotype and genotypic characteristics of 3 patients with KBG syndrome and epileptic seizure.@*METHODS@#Clinical data of the patients were collected. Family-trio whole exon sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Patients 1 and 2 were boys, and patient 3 was an adult woman. All patients had epileptic seizures and mental deficiency. Their facial features included triangular face, low hair line, hypertelorism, large forward leaning auricles, broad nasal bridge, upturned nostrils, long philtrum, arched upper lip, and macrodontia. The two boys also had bilateral Simian creases. WES revealed that the three patients all harbored heterozygous de novo frameshift variants in exon 9 of the ANKRD11 gene including c.2948delG (p.Ser983Metfs*335), c.5397_c.5398insC (p.Glu1800Argfs*150) and c.1180_c.1184delAATAA (p.Asn394Hisfs*42). So far 291 patients with ANKRD11 gene variants or 16q24.3 microdeletions were reported, with over 75% being de novo mutations.@*CONCLUSION@#Above findings have enriched the spectrum of ANKRD11 gene mutations underlying KBG syndrome. WES is helpful for the early diagnosis of KBG, and provided reference for genetic counseling of this disease.

Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.@*RESULTS@#The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.@*CONCLUSION@#The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.

Analysis of IQSEC2 gene variant in a child with X-linked mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.@*METHODS@#The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.@*RESULTS@#The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.@*CONCLUSION@#The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.

Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS).@*METHODS@#Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed.@*RESULTS@#On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent.@*CONCLUSION@#SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.

Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.@*METHODS@#Whole exome sequencing was carried out for the child.@*RESULTS@#The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type.@*CONCLUSION@#The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.