Calidad de vida de los hermanos de pacientes con enfermedad crónica / Quality of life among siblings of patients with chronic conditions

Introducción. La calidad de vida relacionada con la salud (CVRS) es una medida de resultado de salud. Evalúa el impacto subjetivo y global de las enfermedades en la vida cotidiana. Brinda información multidimensional sobre el bienestar físico, relación familiar y sus pares. Los estudios de CVRS de hermanos son limitados.Objetivo. Comparar CVRS de los hermanos de pacientes pediátricos con patologías reumáticas crónicas, trasplante renal o hepático con la de niños sanos con hermanos sin enfermedades crónicas.Resultados. Se compararon hermanos de niños con trasplante renal (n: 65), trasplante hepático (n: 35) y patologías reumáticas crónicas (n: 36) con el grupo control de niños sanos (n: 51). El grupo total de hermanos tuvieron puntuación más baja, estadísticamente significativa, en las dimensiones bienestar físico, amigos-apoyo social y recursos económicos. Los hermanos de trasplante renal tuvieron baja puntuación en las dimensiones de bienestar físico (p < 0,02; tamaño del efecto ­TE­: 0,66) y recursos económicos (p < 0,01; TE: 0,66). Los hermanos de trasplante hepático percibieron menor bienestar físico (p = 0,04), tenían menos amigos y apoyo social (p < 0,01), dificultades en el entorno escolar (p < 0,02) y recursos económicos (p < 0,01). Los hermanos de patologías reumáticas crónicas tuvieron menor bienestar físico (p < 0,05; TE: 0,44) y apoyo social-amigos (p < 0,01; TE: 0,58).Conclusión. La CVRS de niños/as sanos de hermanos con patologías crónicas es menor en bienestar físico, amigos-apoyo social y recursos económicos comparada con el grupo de niños sanos.

Introduction. Health-related quality of life (HRQoL) is a measure of health outcomes. It assesses the subjective and overall impact of diseases on daily life. It also provides multidimensional data about physical well-being, family and peers relations. HRQoL studies on siblings are limited.Objective. To compare HRQoL among siblings of pediatric patients with chronic rheumatic diseases, kidney or liver transplant and healthy children whose siblings had no chronic conditions.Results. The siblings of children with kidney transplant (n: 65), liver transplant (n: 35), and chronic rheumatic diseases (n: 36) were compared to the healthy children group (n: 51). The total siblings group had a lower, statistically significant score in the physical well-being, social support and peers, and financial resources dimensions. The siblings of kidney transplant patients had a low score in the physical well-being (p < 0.02; effect size [ES]: 0.66) and financial resources (p < 0.01; ES: 0.66) dimensions. The siblings of liver transplant patients perceived a lower physical well-being (p = 0.04), less social support and peers(p < 0.01), and difficulties in relation to school environment (p < 0.02) and financial resources (p < 0.01). The siblings of those with chronic rheumatic diseases had a lower score in the physical well-being (p < 0.05; ES: 0.44) and social support and peers (p < 0.01; ES: 0.58) dimensions.Conclusion. HRQoL among healthy children whose siblings have a chronic disease was lower in the physical well-being, social support and peers, and financial resources dimensions compared to the healthy children group.

Calculation of Likelihood Ratio for Identifying Half Sibling Relationship When Both Biological Mothers Participate / 法医学杂志

Objective To derive the formulae for likelihood ratio （LR） calculation of half sibling relationships when both mothers participate. Methods Based on the fact that both biological mothers participate in the identification of half sibling relationship between the two individuals, test hypothesis for the identification of half sibling relationship was established. Conditional probability ratios of genetic evidence under null hypothesis and alternative hypothesis conditions were simplified, and then applied to a real case of half sibling relationship identification. At the same time, the LR of half sibling relationships under the assumption that only a single biological mother or none of the biological mothers participate were respectively calculated. Results In the cases of identification of half sibling relationship from same fathers, with no biological father involved, after the same genetic indicator test analysis, when both biological mothers participate in the identification, the accumulated LR value was higher than that of accumulated LR with only a single biological mother or no parents participating. Conclusion When the autosome STR test is used for the identification and analysis of half sibling relationship between two individuals, the calculation of LR is more simple, intuitive and operable with both mothers participating. The biological mothers should participate in the test as much as possible, otherwise the number of STR loci would need to be increased for a more specific conclusion.

Application of Multiple Genetic Markers in Determination of Full and Half Sibling Relationship： A Case Report / 法医学杂志

Objective To investigate the application of the comprehensive use of multiple genetic markers in full and half sibling relationship testing through the identification of a case of suspected sibling relationship. Methods Genomic DNA were extracted from bloodstain samples from 4 subjects （ZHANG-1, ZHANG-2, male; ZHANG-3, ZHANG-4, female）. Autosomal STR loci, X-STR, Y-STR loci and polymorphisms of mtDNA HV-Ⅰ and Ⅱwere genotyped by EX20 STR kit, X19 kit, Data Y24 STR kit, and Sanger sequencing, respectively. Results According to autosomal STR based IBS scoring results, full sibling relationships were indicated among ZHANG-2, ZHANG-3 and ZHANG-4, but those were not indicated between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4. According to autosomal STR based FSI and HSI, with ITO method and discriminant function method, full sibling relationships among ZHANG-2, ZHANG-3 and ZHANG-4 were indicated, and half sibling relationships between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4 were also indicated. X-STR and mtDNA sequencing results showed that all the 4 samples came from a same maternal line, and Y-STR results showed that ZHANG-1 and ZHANG-2 did not come from a same paternal line, which supported the half sibling relationship between ZHANG-1 and ZHANG-2 or ZHANG-3 or ZHANG-4, verified by parental genotype reconstruction based on autosomal STR genotyping. Conclusion For the identification of sibling relationships, it is effective to have reliable results with the mutual verification and support of multiple genetic markers （autosomal STR, sex chromosomal STR and mtDNA sequence） and calculations （IBS, ITO, discriminant function method and family reconstruction）.

Full Sibling Testing Based on NGS-SNP Genotyping Method and IBS Strategy / 法医学杂志

Objective To evaluate the effectiveness of single nucleotide polymorphism （SNP） genoty-ping in combination with identity by state （IBS） strategy in full sibling testing. Methods Thirty-five blood samples were collected from a four-generation family. Ninety autosomal SNPs were genotyped using Precision ID Identity Panel. The distribution of IBS scores for full siblings and other relationships were calculated and compared. The relationships were determined using Fisher discriminant function and threshold method, respectively. Results Based on family members and previous research, 44, 30, 111, 71 and 1 000 pairs of full siblings （FS）, grandparent-grandchild （GG）, uncle/aunt-nephew/niece （UN）, first cousins （FC） and unrelated individuals （UI） were obtained, respectively. The average IBS scores were 148, 130, 132, 124 and 120, respectively. Except for the GG and UN pairs, the distribution differences among the other relationships had statistical significance （P<0.05）. The false rates of Fisher discriminant function to determine relationships were 1.3%, 22.3%, 17.0% and 38.7% for FS, GG, UN and FC, respectively. Based on the simulation data, the thresholds t1=128 and t2=141 were recommended to determine full sibling relationships （the false rate ≤0.05%）. Conclusion The 90 SNP genetic markers included in the Precision ID Identity Panel meet the testing requirements for full sibling relationships. The threshold method based on IBS has a relatively lower false rate and is more flexible.

Full Sibling Identification by IBS Scoring Method and Establishment of the Query Table of Its Critical Value / 法医学杂志

Objective T o establish a query table of IB S critical value and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards. Methods Sam ples of 267 pairs of full siblings and 360 pairs of unrelated individuals w ere collected and 19 auto-som al ST R loci w ere genotyped by G oldeneyeTM 20A system . T he full siblings w ere determ ined using IB S scoring m ethod according to the 'R egulation for biological full sibling testing'. T he critical values and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards w ere calculated by theoretical m ethods. Results A ccording to the form al IB S scoring criteria, the identification pow er of full siblings and unrelated individuals w as 0.7640 and the rate of false judgm ent w as 0. T he results of theoretical calculation w ere consistent w ith that of sam ple observation. T he query table of IB S critical value for identification of full sibling detection system s w ith different num bers of ST R loci w as successfully established. Conclusion T he IB S scoring m ethod defined by the regulation has high detection efficiency and low false judgm ent rate, w hich provides a relatively conservative result. T he query table of IB S critical value for identification of full sibling detection sys-tem s w ith different num bers of ST R loci provides an im portant reference data for the result judgm ent of full sibling testing and ow ns a considerable practical value.

Full Sibling Identification by IBS Scoring Method and Establishment of the Query Table of Its Critical Value / 法医学杂志

OBJECTIVES@#To establish a query table of IBS critical value and identification power for the detection systems with different numbers of STR loci under different false judgment standards.@*METHODS@#Samples of 267 pairs of full siblings and 360 pairs of unrelated individuals were collected and 19 autosomal STR loci were genotyped by Goldeneye™ 20A system. The full siblings were determined using IBS scoring method according to the 'Regulation for biological full sibling testing'. The critical values and identification power for the detection systems with different numbers of STR loci under different false judgment standards were calculated by theoretical methods.@*RESULTS@#According to the formal IBS scoring criteria, the identification power of full siblings and unrelated individuals was 0.764 0 and the rate of false judgment was 0. The results of theoretical calculation were consistent with that of sample observation. The query table of IBS critical value for identification of full sibling detection systems with different numbers of STR loci was successfully established.@*CONCLUSIONS@#The IBS scoring method defined by the regulation has high detection efficiency and low false judgment rate, which provides a relatively conservative result. The query table of IBS critical value for identification of full sibling detection systems with different numbers of STR loci provides an important reference data for the result judgment of full sibling testing and owns a considerable practical value.

Repercussões do autismo no subsistema fraterno na perspectiva de irmãos adultos / Impacts of autism in the fraternal subsystem from adult siblings' perspective

O autismo é um quadro clínico de início precoce que compromete o processo de desenvolvimento humano, especialmente nos âmbitos da comunicação e da socialização. Desse modo, o objetivo principal deste estudo foi compreender as repercussões de ter um irmão com autismo na trajetória de vida de sujeitos adultos. Para tanto, realizou-se uma pesquisa qualitativa com delineamento exploratório e transversal. A coleta de dados compreendeu entrevistas semiestruturadas realizadas individualmente com quatro participantes adultos que têm irmãos autistas. Os resultados indicaram que a relação fraterna foi afetada em decorrência do transtorno austístico, influenciando nas escolhas pessoais e modos de ser dos participantes, além de exigir-lhes uma rotina de cuidados diferenciada que se estende ao longo da vida. Conclui-se que os irmãos de autistas precisam de suporte para enfrentar essa vivência. Assim, a Psicologia pode auxiliar na ampliação da rede de apoio às famílias, em especial na escuta desses irmãos.

Autism is a clinical condition with early onset that compromises the process of human development, especially in communication and socialization areas. Therefore, the main objective of this study was to understand the impacts of having an autistic sibling on the life course of adult subjects. A qualitative exploratory research with a transversal design was carried out. Data were collected through semi-structured interviews conducted individually with four adults with autistic siblings. The results indicated that the fraternal relationship was affected by having a sibling with autism, influencing personal choices and traits of the respondents, besides demanding a specific and lifelong routine care. It is concluded that bothers and sisters of individuals with autism need support to cope with it. Psychology can contribute to expand family support groups and services, especially in terms of the sibling's perspective.

As relações fraternas no contexto do autismo: um estudo descritivo / Fraternal relations in autistic context: a descriptive study

Os estudos acerca do Transtorno do Espectro Autista (TEA) no âmbito das relações familiares têm enfatizado, em sua maioria, a figura materna. Nesse contexto, investigações sobre as relações fraternas são escassas. Nessa direção, o presente estudo de cunho qualitativo e descritivo teve por objetivo caracterizar as interações sociais entre sujeitos com desenvolvimento típico (DT) e seus irmãos com TEA. Participaram do estudo duas díades de irmãos. Os instrumentos utilizados foram: Formulário de Informações sobre a Família, Formulário de Informações sobre o irmão com TEA e entrevista semiestruturada. Os resultados indicaram que as interações se constituem por sentimentos ambíguos, altruísmo, maturidade, conflitos devido às características da síndrome, companheirismo, poucas responsabilidades frente ao irmão com TEA e apoio familiar. Em suma, a relação entre os irmãos foi facilitada por amizades em comum, orientações das mães junto aos filhos com DT, relativa autonomia do irmão com TEA e redes de apoio familiar e especializado. Os fatores que dificultam tais interações relacionam-se às características clássicas do autismo e falta de tempo por parte dos pais. Conclui-se que as particularidades de cada família determinam as interações sociais entre sujeitos com DT e irmãos com TEA.

Most studies related to Autism Spectrum Disorder (ASD) in the sphere of family relations are focused on maternal figure. In this context, researches about the fraternal relations are scarce. Therefore, this qualitative descriptive study aimed to describe the social interactions between subjects with typical development (TD) and their siblings with ASD. Thus, two pairs of siblings participated in this study. To collect data, instruments included the Family Information Questionnaire, Information Questionnaire about sibling with ASD and semi-structured interviews. The results indicated that the interactions are constituted by ambiguous feelings, altruism, maturity, conflicts due to the syndrome characteristics, companionship, few responsibilities toward the sibling with ASD and family support. In summary, the relation between siblings was facilitated through common friendships, guidance of the mothers directed to the subjects with TD, relative autonomy of the sibling with ASD and network of family and specialized support. The elements that difficult these interactions are related to autism classic characteristics and lack of time by the parents. In conclusion, the particularities of each family determinate the social interactions between the subjects with TD and the siblings with ASD.

Microdeletion and Mutation of Y Chromosome in Full Sibling Identification / 法医学杂志

OBJECTIVES@#To explore the identification method of full sibling between two males with microdeletion and mutation of Y chromosome.@*METHODS@#DNA were extracted from two samples. The type testing of Y-STR and autosomal STR were performed. Full sibling between two individuals was calculated by IBS, ITO and discriminant functions methods.@*RESULTS@#There were 2 loci mutations existed in 33 Y-STR loci and one of the two samples had 19 loci deletions. The IBS of two samples was 53 and greater than the threshold which was 42; FSI was 1.36×10¹⁶ and far greater than 19. The discriminant function of full sibling-unrelated individual DFS2 was greater than DR2, which meant the two individuals tend to be full sibling.@*CONCLUSIONS@#The methods of IBS, ITO and discriminant functions of full sibling-unrelated individual can be used comprehensively to provide more reliable expert opinion in microdeletion and mutation of Y chromosome in full sibling identification.

Adaptação do questionário de tarefas domésticas e de cuidado de irmãos / Adaptation of the household responsibilities and sibling care questionnaire

O objetivo deste estudo foi adaptar o Household Responsibilities Questionnaire para avaliação de cuidado de irmãos e realização de tarefas domésticas por adolescentes brasileiros. Para isso, realizou-se a tradução e a adaptação dos itens para a população-alvo, seguindo as diretrizes de adaptação de testes da International Test Commission. Responderam à versão final do questionário 113 participantes com média de idade de 14,7 anos (DP = 0,8), sendo 61,9% do sexo feminino. O conjunto de itens foi submetido a uma análise de eixos principais que revelou a solução bifatorial como mais apropriada. Os dois fatores, referentes a cuidado de irmãos e tarefas domésticas, apresentaram coeficientes alfa adequados de 0,75 e de 0,69 respectivamente. Esses resultados sugerem evidências de validade de construto para o questionário, assim como de fidedignidade. Assim, o questionário permite acessar esses fenômenos sistematicamente, o que pode ser fundamental para o avanço do conhecimento e de estimativas realizadas em nível nacional.

The aim of this study was to adapt the Household Responsibilities Questionnaire for the assessment of sibling care and household responsibilities among Brazilian adolescents. To do this, we carried out the translation and adaptation of items for the target population following the test-adaptation guidelines of the International Test Commission. Participants were 113 adolescents (61.9% female) with a mean age of 14.7 years (SD = 0.8) who answered the final version of the questionnaire. The set of items underwent principal axes analysis which revealed the two-factor solution as the most appropriate. The two factors, related to sibling care and household responsibilities, presented adequate alpha coefficients of 0.75 and 0.69 respectively. These results show evidence of construct validity for the questionnaire as well as reliability. Thus, this questionnaire enables systematic access to these phenomena, which can be critical to the advancement of knowledge and production of estimates at the national level...

Experiência do irmão sadio em relação à doença e hospitalização do irmão com câncer / Experience of a healthy brother in relation to the disease and hospitalization of his brother with cancer / Experiencia del hermano saludable en relación a la enfermedad y hospitalización del hermano concáncer

OBJETIVO: Compreender o significado da experiência de ter um irmão com câncer na perspectiva do irmão sadio. MÉTODOS: Pesquisa descritiva de abordagem qualitativa. Foram realizadas entrevistas semiestruturadas com cinco irmãos de crianças com câncer assistidas em instituição filantrópica localizada no Município de São Paulo. RESULTADOS: O tema central tornando-se amadurecido com o sofrimento permitiu revelar que o irmão sadio torna-se amadurecido em razão do sofrimento que lhe é imposto no decorrer dos acontecimentos. Passa a valorizar a convivência familiar e os pequenos atos do cotidiano que lhe eram despercebidos. CONCLUSÃO: A equipe de saúde precisa reconhecer a experiência do irmão e incluí-lo no cuidado prestado em todas as fases da doença.

OBJECTIVE: To understand the meaning of the experience of having a sibling with cancer from the perspective of healthy brother. METHODS: A descriptive qualitative research approach. Semi-structured interviews were conducted with five siblings of children with cancer who were receiving care in a philanthropic institution located in São Paulo. RESULTS: The central theme that emerged was suffering as it was revealed that the healthy brother became mature because of the suffering that is imposed in the course of events. They valued family and small acts of daily life that are often undetected. CONCLUSION: The health care team must recognize the experience of the brother and include it in the care provided at all stages of the disease.

OBJETIVO: Comprender el significado de la experiencia de tener un hermano con cáncer en la perspectiva del hermano saludable. MÉTODOS: Investigación descriptiva de abordaje cualitativo. Fueron realizadas entrevistas semiestructuradas con cinco hermanos de niños con cáncer asistidos en una institución filantrópica localizada en el Municipio de Sao Paulo. RESULTADOS: El tema central tornándose maduro con el sufrimiento permitió revelar que el hermano saludable madura en razón del sufrimiento que le es impuesto en el transcurso de los acontecimientos. Pasa a valorizar la convivencia familiar y los pequeños actos del cotidiano que le eran desapercibidos. CONCLUSIÓN: El equipo de salud necesita reconocer la experiencia del hermano e incluirlo en el cuidado prestado en todas las fases de la enfermedad.

Terapia de linguagem de irmãos com transtornos invasivos do desenvolvimento: estudo longitudinal / Language therapy of brothers with pervasive developmental disorders: longitudinal study

O objetivo deste trabalho foi descrever o processo de intervenção fonoaudiológica de dois irmãos com transtornos invasivos do desenvolvimento, por meio de um estudo longitudinal de caso clínico. Participaram dois irmãos, um de nove e outro de 11 anos de idade, ambos do gênero masculino, com autismo (Caso 1) e transtorno invasivo do desenvolvimento sem outra especificação (Caso 2). Como procedimento de coleta e análise de dados foi realizado um estudo longitudinal, por meio de acompanhamento dos casos ao longo de quatro anos de intervenção fonoaudiológica. Foram realizadas filmagens durante as sessões de terapia, análise documental de informações dos prontuários referentes à anamnese, avaliação e relatórios terapêuticos fonoaudiológicos, exames e avaliações multidisciplinares. Em ambos os casos houve melhora no contato visual, na interação social, no vocabulário e na brincadeira simbólica. No Caso 1 ocorreu aumento de 2,0 para 6,2 atos comunicativos por minuto, no Caso 2 de 3,5 para 8,0 atos e ambos demonstraram predominância do meio verbal e maior variedade de funções comunicativas. Outros fatores influenciaram estes resultados, como a deficiência intelectual, a dinâmica familiar, os conflitos no relacionamento entre os irmãos e o ambiente escolar em que estavam inseridos. Confirmou-se a relevância do fonoaudiólogo em intervenções nos transtornos invasivos do desenvolvimento, junto a equipes multidisciplinares, para a discussão diagnóstica e de condutas mais adequadas. Estudos longitudinais podem contribuir para uma análise mais detalhada e fidedigna de intervenções terapêuticas nesses casos, para esclarecer lacunas existentes na literatura e subsidiar a atuação do fonoaudiólogo clínico.

The aim of this research was to describe the language intervention process of two brothers with pervasive developmental disorders, through a longitudinal clinical case study. Two brothers - one nine and the other 11 years old - participated in the study. Subjects had diagnosis of autism (Case 1) and pervasive developmental disorder-not otherwise specified (Case 2), respectively. As a procedure for data collection and analysis, a longitudinal study was carried out through a follow up of the cases during the four years of language therapy. The procedure included filmed therapy sessions, documental analysis of information contained in the patients' records regarding anamnesis, assessments and therapeutic reports, and multidisciplinary evaluations and exams. In both cases there was an improvement on visual contact, social interaction, vocabulary and symbolic play. For Case 1, there was an increase from 2.0 to 6.2 communicative acts per minute; for Case 2, an increase from 3.5 to 8.0 acts. Both subjects demonstrated predominance of the verbal communicative mean and greater variety of communicative functions. Other factors influenced these results, such as the intellectual deficiency, the family dynamics, the conflicts on the relationship between the brothers and the school environment in which they were placed. The study confirmed the relevance of the speech-language pathologist in interventions of pervasive developmental disorders, along with multidisciplinary teams, for the discussion of diagnoses and of the most appropriate procedures. Longitudinal studies can contribute for more detailed and reliable analysis of therapeutic intervention in these cases, in order to clarify gaps existent in literature and to support the role of clinical speech-language pathologists.

La violencia doméstica en Medellín y demás municipios del Valle de Aburrá, 2003-2004 / Domestic violence in Medellín and other municipalities of Aburrá Valley 2003-2004

Objetivo: estimar la magnitud y distribución por sexo de la violencia doméstica (de pareja, de padres a hijos y entre hermanos) en Medellín y los otros nueve municipios del Valle de Aburrá 2003-2004. Métodos: encuesta cara a cara en una muestra multietápica representativa de la población de 12 a 60 años, no institucionalizada, del área urbana de cada municipio. Resultados: en miembros de la pareja se encontró agresión y victimización verbal o sicológica (64 y 61%); física sin lesión (17 y 14%); física con lesión (2 y 3%). Se observan proporciones de agresión y victimización similares en hombres y en mujeres. La agresión verbal y física a hijos por sus padres es cercana a 60% y la que deja lesiones físicas es de 10%. En 55% de las familias hubo peleas entre hermanos y en 3%, secuelas de lesión física. En Medellín se presentan mayores proporciones de violencia doméstica que en los demás municipios agrupados. La proporción de no denuncia es muy alta (80 a 95%) y es significativamente mayor entre los hombres. Conclusiones: no es aconsejable fincar las políticas públicas y programas de prevención y control de la violencia doméstica en las estadísticas de las cuales dispone el Estado; se recomienda realizar encuestas periódicas en muestras poblacionales completas (hombres y mujeres). Se sugiere tener dos tipos de programas: unos de prevención de la violencia doméstica, considerando a la familia como una unidad total, y otros de rehabilitación de agresores crónicos y severos.

Objective: To estimate the magnitude and distribution by sex of domestic or family violence (between partners, siblings, and from parents to children) in Medellin, Colombia and nine surrounding municipalities (Medellin metropolitan area), 2003-2004. Methods: Household survey to a representative multistage sample to non institutionalized population, within 12 and 60 years of age, in the urban area of each municipality. Results: Verbal or psychological aggression and victimization: 64% and 61%, physical violence without physical injury: 17% and 14%, physical violence with physical injury: 2% and 3% between intimate partners. Intimate partners’ aggression and victimization do no differentiate by sex. Verbal, psychological and physical aggression from parents toward children is 60%, and physical aggression with physical injury is near 10%. 55% of families reported fights among siblings, and 3% with physical injury. Medellin has the highest rates of family or domestic violence compared with the other municipalities of Aburra Valley. Domestic violence charge is very low (5-20%), and masculine victims rather prefer not to report. Conclusions: We suggest not to ground public policies on current statistics, but to establish a system of periodic surveys, representative of general population or families. It seems important to have two different types of interventions: domestic or family violence prevention considering family as a unit that interaCTS with the surrounding; and rehabilitation of chronic and severe domestic aggressors.