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1.
Psicol. teor. prát ; 21(3): 437-455, sept.-Dec. 2019. ilus
Artigo em Inglês | LILACS-Express | ID: biblio-1040917

RESUMO

The regression of previously acquired skills has been highlighted as a potential early indicator of Autism Spectrum Disorder (ASD). The aims of the study were to validate parental reports regarding the occurrence of word loss and to investigate the characteristics of the words and other skills in a child aged 42 months with ASD over a 10-month period. It is a longitudinal and exploratory case study using systematic observation. Ten home videos showing the child's behavior between 13 and 23 months of age were analyzed according to the home video observation protocol and PROTEA-R. A total of 171 episodes involving the investigated behaviors were identified, which included the use of 51 words (the majority being nouns). Word loss and loss of other skills (play and social abilities) were observed. Word loss was the first or primary motive for parental concern, reinforcing that this phenomenon constitutes a potential early indicator of ASD.


A regressão de habilidades previamente adquiridas tem sido destacada como um potencial indicador precoce do Transtorno do Espectro Autista (TEA). Os objetivos do estudo de caso longitudinal e exploratório, utilizando observação sistemática foram validar os relatos dos pais sobre a perda de palavras, investigar suas características e outras habilidades em uma criança de 42 meses com TEA ao longo de um período de 10 meses. Foram analisados dez vídeos mostrando o comportamento da criança entre 13 e 23 meses de idade de acordo com um protocolo de observação de vídeos caseiros e do PROTEA-R. Analisamos 171 episódios envolvendo os comportamentos investigados, incluindo o uso de 51 palavras (a maioria substantivos). Observamos perda de palavras e perda de outras habilidades (de brincar e habilidades sociais). A perda de palavras foi o primeiro ou principal motivo de preocupação dos pais, reforçando que esse fenômeno constitui um indicador precoce potencial de TEA.


La regresión de habilidades previamente adquiridas es destacada como un potencial indicador precoz del Trastorno del Espectro del Autismo (TEA). Los objetivos del estudio de caso longitudinal y exploratorio, utilizando observación sistemática, fueron validar relatos de los padres sobre pérdida de vocabulario, investigar sus características y otras habilidades en un niño de 42 meses con TEA en un período de 10 meses. Se analizaron diez vídeos mostrando la conducta del niño entre 13 y 23 meses de edad de acuerdo con un protocolo de observación de vídeos caseros y el PROTEA-R. Analizamos 171 episodios que involucra los comportamientos investigados, incluyendo el uso de 51 palabras (la mayoría de ellos sustantivos). Observamos pérdida de vocabulario y pérdida de otras habilidades (jugar y habilidades sociales). La pérdida de vocabulario fue el primer o principal motivo de preocupación de los padres, reforzando que ese fenómeno constituye un indicador precoz potencial de TEA.

2.
J Autism Dev Disord ; 48(5): 1780-1791, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29247310

RESUMO

Simple and low-cost observational-tools to detect symptoms of Autism Spectrum Disorder (ASD) are still necessary. The OERA is a new assessment tool to screen children eliciting observable behaviors with no substantial knowledge on ASD required. The sample was 99 children aged 3-10: 76 with ASD and 23 without ASD (11/23 had intellectual disability). The 13 remained items exhibited high interrater agreement and high reliability loaded onto a single latent trait. Such model showed excellent fit indices evaluated via confirmatory factor analysis and no item showed differential function in terms of age/sex/IQ. A cutoff of five points or higher resulted in the highest sensitivity (92.75) and specificity (90.91) percentages. OERA is a brief, stable, low-cost standardized observational-screening to identify ASD children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/economia , Técnicas de Observação do Comportamento/economia , Técnicas de Observação do Comportamento/normas , Programas de Rastreamento/economia , Programas de Rastreamento/normas , Transtorno do Espectro Autista/psicologia , Criança , Pré-Escolar , Análise Custo-Benefício , Análise Fatorial , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/economia , Deficiência Intelectual/psicologia , Masculino , Reprodutibilidade dos Testes
3.
J. pediatr. (Rio J.) ; 93(6): 592-600, Nov.-Dec. 2017. tab
Artigo em Inglês | LILACS-Express | ID: biblio-894076

RESUMO

Abstract Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. Methods: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample. This protocol was culturally adapted to Brazilian Portuguese. Results: The frequency of 82 morphological characteristics was established in the sample; of 82 characteristics, 50% were considered morphological anomalies (frequency less than 4%). At least 25% of the sample presented more than one minor morphological anomaly. Age was shown to influence the frequency of the following morphological characteristics: widow's peak, prominent antihelix, prominent upper lip, irregular or crowded teeth, and clinodactyly, but had no influence on the frequency of minor morphological anomalies. Gender influenced dysplastic ears and attached earlobe, but had no influence on the frequency of minor morphological anomalies; ethnicity showed influence on camptodactyly and prominent antihelix. A statistically significant divergence was observed regarding 43 of the 73 morphological characteristics that could be compared with literature data (58.9%). Conclusions: The study determined the frequency of 82 morphological characteristics in 239 children with typical development. Age was the variable that showed more influence on the frequency of morphological characteristics, and comparison with literature data showed that the frequency depends on variables such as age and ethnicity.


Resumo Objetivo: Estabelecer a frequência de 82 características morfológicas em uma amostra de crianças brasileiras (entre três e 13 anos), para entender a influência da idade, do sexo e da etnia. Métodos: Estudo transversal. Avaliamos 239 crianças com desenvolvimento típico (entre três e 13 anos), em relação à presença de 82 características morfológicas. Aplicamos um protocolo descrito anteriormente, baseado no London Dysmorphology Database, para avaliar nossa amostra. Esse protocolo foi culturalmente adaptado ao português do Brasil. Resultados: A frequência de 82 características morfológicas foi estabelecida em nossa amostra; de 82 características, 50% foram consideradas anomalias morfológicas (frequência inferior a 4%). Pelo menos 25% da nossa amostra apresentaram mais de uma anomalia morfológica menor. A idade mostrou influência na frequência das seguintes características morfológicas: "bico de viúva", "anti-hélice proeminente", "lábio superior proeminente", "dentes irregulares ou encavalados" e "clinodactilia", mas não teve influência na frequência de anomalias morfológicas menores. O sexo mostrou influência nas seguintes características: "orelhas displásicas" e "lóbulo da orelha aderente", mas não teve influência na frequência de anomalias morfológicas menores; a etnia mostrou influência na "camptodactilia" e "anti-hélice proeminente". Houve divergência (estatisticamente significativa) em 43 características morfológicas de 73 que pudemos comparar com os dados da literatura (58,9%). Conclusões: Estabelecemos a frequência de 82 características morfológicas em 239 crianças com desenvolvimento típico. A idade foi a variável que mostrou maior influência na frequência de características morfológicas e a comparação com dados da literatura mostrou que a frequência depende de variáveis como idade e etnia.

4.
J Pediatr (Rio J) ; 93(6): 592-600, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28756062

RESUMO

OBJECTIVE: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. METHODS: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample. This protocol was culturally adapted to Brazilian Portuguese. RESULTS: The frequency of 82 morphological characteristics was established in the sample; of 82 characteristics, 50% were considered morphological anomalies (frequency less than 4%). At least 25% of the sample presented more than one minor morphological anomaly. Age was shown to influence the frequency of the following morphological characteristics: widow's peak, prominent antihelix, prominent upper lip, irregular or crowded teeth, and clinodactyly, but had no influence on the frequency of minor morphological anomalies. Gender influenced dysplastic ears and attached earlobe, but had no influence on the frequency of minor morphological anomalies; ethnicity showed influence on camptodactyly and prominent antihelix. A statistically significant divergence was observed regarding 43 of the 73 morphological characteristics that could be compared with literature data (58.9%). CONCLUSIONS: The study determined the frequency of 82 morphological characteristics in 239 children with typical development. Age was the variable that showed more influence on the frequency of morphological characteristics, and comparison with literature data showed that the frequency depends on variables such as age and ethnicity.


Assuntos
Variação Anatômica , Adolescente , Brasil , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Fatores Sexuais
5.
Arq Neuropsiquiatr ; 75(4): 244-247, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28489145

RESUMO

Objective: To assess the diagnostic status, the sociodemographic and health profiles for students with special educational needs (SEN) in a public educational system, and to map their use of educational/social services. Methods: The sample comprised 1,202 SEN students from a total of 59,344 students. Results: Only 792 students of the 1,202 had an established diagnosis. The most prevalent SEN condition was intellectual disability. There was a low percentage (29.4%) of use of specialized educational services or support. It was found that, for some neurodevelopmental disorders, prevalence data suggest an under-reporting in the school system. Conclusion: Results suggest that there is a mismatch between the diagnostic reports and the SEN condition legally recognized according to Brazilian law, in addition to the under-reporting and under specialized service use of students with disabilities.


Assuntos
Crianças com Deficiência/classificação , Educação Especial/estatística & dados numéricos , /métodos , Adolescente , Criança , Pré-Escolar , Crianças com Deficiência/estatística & dados numéricos , Educação Especial/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores Socioeconômicos
6.
Autism ; 21(5): 603-610, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28366047

RESUMO

Video modeling using applied behavior analysis techniques is one of the most promising and cost-effective ways to improve social skills for parents with autism spectrum disorder children. The main objectives were: (1) To elaborate/describe videos to improve eye contact and joint attention, and to decrease disruptive behaviors of autism spectrum disorder children, (2) to describe a low-cost parental training intervention, and (3) to assess participant's compliance. This is a descriptive study of a clinical trial for autism spectrum disorder children. The parental training intervention was delivered over 22 weeks based on video modeling. Parents with at least 8 years of schooling with an autism spectrum disorder child between 3 and 6 years old with an IQ lower than 70 were invited to participate. A total of 67 parents fulfilled the study criteria and were randomized into two groups: 34 as the intervention and 33 as controls. In all, 14 videos were recorded covering management of disruptive behaviors, prompting hierarchy, preference assessment, and acquisition of better eye contact and joint attention. Compliance varied as follows: good 32.4%, reasonable 38.2%, low 5.9%, and 23.5% with no compliance. Video modeling parental training seems a promising, feasible, and low-cost way to deliver care for children with autism spectrum disorder, particularly for populations with scarce treatment resources.


Assuntos
Análise do Comportamento Aplicada/métodos , Transtorno do Espectro Autista/terapia , Comportamento Infantil/psicologia , Poder Familiar/psicologia , Avaliação de Programas e Projetos de Saúde/métodos , Gravação de Videoteipe , Adulto , Transtorno do Espectro Autista/psicologia , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Relações Pais-Filho , Pais/psicologia
7.
Arq. neuropsiquiatr ; 75(4): 244-247, Apr. 2017. tab
Artigo em Inglês | LILACS-Express | ID: biblio-838894

RESUMO

ABSTRACT Objective To assess the diagnostic status, the sociodemographic and health profiles for students with special educational needs (SEN) in a public educational system, and to map their use of educational/social services. Methods The sample comprised 1,202 SEN students from a total of 59,344 students. Results Only 792 students of the 1,202 had an established diagnosis. The most prevalent SEN condition was intellectual disability. There was a low percentage (29.4%) of use of specialized educational services or support. It was found that, for some neurodevelopmental disorders, prevalence data suggest an under-reporting in the school system. Conclusion Results suggest that there is a mismatch between the diagnostic reports and the SEN condition legally recognized according to Brazilian law, in addition to the under-reporting and under specialized service use of students with disabilities.


RESUMO Objetivo Avaliar a situação diagnóstica, o perfil sociodemográfico e de saúde dos alunos com necessidades educacionais especiais (NEE) de uma rede municipal de educação, assim como mapear o uso de serviços educacionais e sociais. Métodos A amostra foi composta por 1202 alunos com NEE de um total de 59344 alunos. Resultados Dos 1202 alunos somente 792 tinha diagnóstico estabelecido. A condição de NEE mais prevalente foi a deficiência intelectual. Verificou-se um baixo percentual (29,4%) de uso de serviços educacionais especializados ou de apoio. Foi constatado que, para alguns transtornos do neurodesenvolvimento, os dados de prevalência parecem indicar uma subnotificação. Conclusão Os resultados sugerem um descompasso entre os registros diagnósticos e a condição de necessidade educacional especial segundo a legislação brasileira, além disso verificou-se uma subnotificação diagnóstica e baixo uso de serviços especializados entre estudantes com deficiências.

8.
Cien Saude Colet ; 21(10): 3297-3302, 2016 Oct.
Artigo em Português, Inglês | MEDLINE | ID: mdl-27783802

RESUMO

The present study aimed to present an overview of recent national and international research on the Zika virus (ZIKV), as well as to explore possible action plans focused on children, their families and the health teams involved.Therefore, the study proposes the implementation of tracking systems in order to identify, describe and characterize the potential correlates of prenatal exposure to ZIKV, divided into three lines of action: 1. Diagnostic and etiological evaluation as well as screening of developmental problems in children confirmed or suspected of prenatal ZIKV infection. 2. Investigation of the emotional impact, quality of life, coping strategies and support network of the affected children and their families. 3. Training of multidisciplinary teams to conduct assessments and intervention programs throughout these children's development, especially in the first three years of life. In conclusion, the recent ZIKV outbreak in Brazil and several other Latin American countries places a significant burden on the health care systems: to understand the real meaning of a potential new teratogen; to unravel the pathogenic mechanisms of ZIKV, particularly in a prevention perspective; and to recognize the broad spectrum of clinical manifestations in order to devise intervention programs.


Assuntos
Atitude Frente a Saúde , Microcefalia/virologia , Infecção por Zika virus/complicações , Criança , Família , Pessoal de Saúde , Humanos
9.
Ciênc. saúde coletiva ; 21(10): 3297-3302, Out. 2016.
Artigo em Português | LILACS | ID: lil-797034

RESUMO

Resumo O presente estudo objetivou apresentar um panorama nacional e internacional atual dos estudos sobre o vírus Zika (ZIKV) e, ancorado no avanço deste conhecimento, refletir sobre planos de ação voltados para as crianças, famílias e equipes de saúde envolvidas. Neste sentido, o estudo propôs a implementação de sistemas de seguimento para conhecer, descrever e caracterizar aspectos que devem estar relacionados à exposição pré-natal ao ZIKV, divididos em três eixos de atuação: 1. Avaliação diagnóstica e etiológica e rastreamento de problemas de desenvolvimento nas crianças incluídas como casos confirmados ou suspeitos. 2. Investigação do impacto emocional, da qualidade de vida, das estratégias de enfrentamento e da rede de apoio às famílias das crianças incluídas. 3. Capacitação de equipes multiprofissionais para avaliar e elaborar programas de intervenção ao longo do desenvolvimento das crianças, principalmente nos três primeiros anos de vida. Como conclusão, o presente trabalho ressalta que o sistema de assistência à saúde encontra-se diante de grandes desafios: entender o real significado de um potencial novo teratógeno; desvendar os mecanismos patogênicos do ZIKV, principalmente para o enfrentamento preventivo, e reconhecer o amplo espectro de manifestações clínicas para a elaboração de programas de intervenção.


Abstract The present study aimed to present an overview of recent national and international research on the Zika virus (ZIKV), as well as to explore possible action plans focused on children, their families and the health teams involved.Therefore, the study proposes the implementation of tracking systems in order to identify, describe and characterize the potential correlates of prenatal exposure to ZIKV, divided into three lines of action: 1. Diagnostic and etiological evaluation as well as screening of developmental problems in children confirmed or suspected of prenatal ZIKV infection. 2. Investigation of the emotional impact, quality of life, coping strategies and support network of the affected children and their families. 3. Training of multidisciplinary teams to conduct assessments and intervention programs throughout these children’s development, especially in the first three years of life. In conclusion, the recent ZIKV outbreak in Brazil and several other Latin American countries places a significant burden on the health care systems: to understand the real meaning of a potential new teratogen; to unravel the pathogenic mechanisms of ZIKV, particularly in a prevention perspective; and to recognize the broad spectrum of clinical manifestations in order to devise intervention programs.


Assuntos
Humanos , Criança , Atitude Frente a Saúde , Microcefalia/virologia , Infecção por Zika virus/complicações , Família , Pessoal de Saúde
10.
Psicol. teor. prát ; 18(1): 166-177, abr. 2016.
Artigo em Português | LILACS-Express | ID: lil-791821

RESUMO

Entre 20% e 30% dos indivíduos encaminhados com suspeita diagnóstica de autismo para avaliação por equipes multidisciplinares, têm o diagnóstico descartado. Entre os casos positivos, 15% a 20% apresentam comorbidades genéticas e/ou ambientais. Entre setembro de 2011 e dezembro de 2014, foram avaliados 151 escolares da rede municipal de ensino de Barueri (SP) com o objetivo de validar a suspeita diagnóstica de transtorno global do desenvolvimento e investigar comorbidades genéticas e ambientais. Avaliação: anamnese perinatal, crescimento e desenvolvimento, histórico de saúde, comorbidades (anoxia perinatal, prematuridade, infecções e defeitos congênitos, síndromes genéticas, deficiência intelectual, epilepsia); escalas de triagem Inventário de Comportamentos Autísticos (Autism Behavior Checklist – ABC) e Questionário de Avaliação de Autismo (Autism Screening Questionnaire – ASQ). O método utilizado foi o de estudo de caso com a documentação disponível. Os principais resultados alcançados foram a exclusão do diagnóstico de TEA em 44 crianças (30%). Dentre os alunos com TEA, 22 (21%) apresentaram diversas comorbidades de causas genéticas e ambientais. Conclusões: 1. o diagnóstico de autismo registrado pelas escolas deve ser validado; 2. equipes acadêmicas interdisciplinares podem efetuar parcerias com sistemas educacionais; 3. protocolos clínicos básicos e disponíveis em nosso meio são eficazes tanto para validar o diagnóstico como para conhecer melhor o perfil cognitivo‑comportamental e as condições gerais de saúde dos alunos com autismo.


Among 20‑30% of patients with suspected autism referred for evaluation by multidisciplinary teams, have the diagnosed discarded and 15 to 20% have genetic and / or environmental comorbidities. From September 2011 to December 2014, through 15 task forces, physicians and neuropsychologists evaluated 151 children enrolled in municipal schools in the city of Barueri, São Paulo. Evaluation: perinatal history, growth and developmental milestones, health history, perinatal anoxia, prematurity, infection and birth defects, genetic syndromes, intellectual disability and epilepsy were recorded. Screening scales used were Autism Behavior Checklist (ABC) and the Autism Screening Questionnaire (ASQ). The main results were the exclusion of ASD diagnosis in 44 children (30%). Among ASD students 22 (21%) had several comorbidities of genetic and environmental causes. Conclusions: 1. the diagnosis of autism should be validated; 2. interdisciplinary academic teams with expertise in evaluation can make partnerships with educational systems and develop appropriate methods for this purpose; 3. basic and clinical protocols available in Brazil are effective both to validate the diagnosis and to better know the general health and cognitive‑behavioral of the students with autism.


Entre 20% e 30% de los individuos encaminados con sospecha diagnóstica de autismo para evaluación por equipos multidisciplinares tienen diagnóstico descartado. Entre los casos positivos, 15% a 20% presentan comorbidades genéticas y/o ambientales. Entre septiembre de 2011 a diciembre de 2014, fueron evaluados 151 escolares de una red municipal de enseñanza de Barueri, São Paulo. Evaluación: anamnesis perinatal, crecimiento y desarrollo, histórico de salud, comorbilidades (anoxia perinatal, prematuridad, infecciones y defectos congénitos, síndromes genéticos, deficiencia intelectual, epilepsia); escalas de despistaje Inventario de Conductas Autísticas (Autism Behavior Checklist – ABC) y Cuestionario de Evaluación de Autismo (Autism Screening Questionnaire – ASQ). Los principales resultados fueron la exclusión del diagnóstico de TEA en 44 niños (30%). Entre los estudiantes con TEA, 22 (21%) tuvieran varias comorbidades de causas genéticas e ambientales. Conclusiones: 1. el diagnóstico de autismo registrado por las escuelas debe ser validado; 2. equipos académicos interdisciplinares pueden efectuar colaboraciones con sistemas educacionales; 3. protocolos clínicos básicos y disponibles en nuestro medio son eficaces tanto para validar el diagnóstico como para conocer mejor las condiciones generales de salud y cognoscitivo‑conductuales de los alumnos con autismo.

11.
Psicol. teor. prát ; 18(1): 178-193, abr. 2016.
Artigo em Português | LILACS-Express | ID: lil-791822

RESUMO

A síndrome de Williams (SW) é uma desordem genética causada pela deleção de múltiplos genes no cromossomo 7. Evidências clínicas alertam para indicadores de prejuízos socioemocionais compatíveis com Transtorno do Espectro Autista (TEA). O objetivo do estudo foi identificar indicadores socioemocionais e comportamentais compatíveis com autismo em pessoas com SW. A amostra foi composta por 30 indivíduos com diagnóstico de SW e 22 com TEA. Os instrumentos de coleta de dados foram Inventário de Comportamentos Autísticos (Autism Behavior Checklist – ABC); e Questionário de Avaliação de Autismo (Autism Screening Questionnaire – ASQ), respondidos pelos respectivos cuidadores. Foi conduzida uma análise discriminante (modelo Step Wise) para diferenciação dos grupos a partir dos itens dos inventários ABC e ASQ. O grupo de pessoas com SW apresentou um número expressivo de sinais de alterações socioemocionais, comunicativas e de comportamento compatíveis com Autismo que predominaram na fase dos quatro a cinco anos de idade.


Williams Syndrome (WS) is a genetic disorder caused by the deletion of multiple genes on chromosome 7. Clinical evidence points to socio‑emotional alterations compatible with Autism Spectrum Disorder (ASD). The goal of this study was to identify socio‑emotional and behavioral signs compatible with ASD in individuals with WS. The sample consisted of 30 individuals with WS and 22 with ASD. The data collection instruments were Autism Behavior Checklist (ABC); and Autism Screening Questionnaire (ASQ) that were answered by the caregivers. We conducted a discriminant analysis (Step Wise) to differentiate the groups from items of the ABC and ASQ inventories. The WS group showed a large number of signs of socio‑emotional, communicative and behavioral alterations compatible with Autism that prevailed at the age of four to five years.


El Síndrome de Williams (SW) es una enfermedad genética causada por la delección de múltiplos genes en el cromosoma 7. Evidencias clínicas alertan para indicadores de afectaciones socio‑emocionales compatibles con Trastorno del Espectro del Autismo (TEA). El objetivo del estudio fue identificar indicadores socio‑emocionales y conductuales compatibles con Autismo en personas con SW. La muestra fue compuesta por 30 individuos con diagnóstico de SW y 22 con TEA. Los instrumentos de colecta de datos fueron Inventario de Conductas Autisticos (Autism Behavior Checklist – ABC); y Cuestionario de Conducta y Comunicación Social (Autism Screening Questionnaire – ASQ), respondidos por los respectivos cuidadores. Fue conducido un análisis discriminante (modelo Step Wise) para diferenciación de los grupos a partir de los itens de los inventarios ABC y ASQ. El grupo de personas con SW presentó un número expresivo de señales de alteraciones socio‑emocionales, comunicativas y de conducta compatibles con Autismo que predominaron en la fase de los cuatro a cinco años de edad.

12.
Cien Saude Colet ; 20(5): 1363-9, 2015 May.
Artigo em Inglês, Português | MEDLINE | ID: mdl-26017939

RESUMO

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.


Assuntos
Divórcio/estatística & dados numéricos , Síndrome de Down , Síndrome de Rett , Adolescente , Brasil , Saúde da Família , Feminino , Humanos , Masculino , Adulto Jovem
13.
Ciênc. saúde coletiva ; 20(5): 1363-1369, 05/2015. tab
Artigo em Inglês | LILACS | ID: lil-747187

RESUMO

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.


Este estudo buscou avaliar o impacto do nascimento de uma criança com Síndrome de Down ou Rett na estabilidade e manutenção do casamento. As variáveis consideradas foram a morbidade das síndromes e o estado marital dos casais antes e após o nascimento das crianças afetadas. A taxa de divórcio nas famílias com síndrome de Down foi de 10%, semelhante a da população brasileira. Para a Síndrome de Rett, a taxa de divórcio encontrada foi significativamente maior, 23,5%. Considera-se que tanto a maior morbidade da síndrome de Rett, bem como o momento do diagnóstico podem ser fatores relevantes para aumento de taxa de divórcio associada a esta síndrome.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Divórcio/estatística & dados numéricos , Síndrome de Down , Síndrome de Rett , Brasil , Saúde da Família
14.
Am J Med Genet A ; 164A(7): 1659-65, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24700634

RESUMO

We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient 6 displayed constitutional mosaicism with a normal cell line. Five patients had deletions in the ring chromosome 22, and in four of them the breakpoints--unique for each patient--could be identified by genome-wide SNP-array analysis. One patient presented with a 22q11.2 deletion concomitant with the deletion caused by the ring formation. Common phenotypic features included autism, speech delay and seizures, as previously reported for individuals with r(22) and/or 22q13.3 deletions. Investigation of the genes within the deletions revealed multiple genes related to development of the central nervous system, psychomotor delay, severe language impairment, hypotonia, and autistic symptoms. There was no clear correlation between the severity of clinical features and the size of the deleted segment. This study underscores the variability in ring structure and clinical presentation of the r(22) and adds information to the limited literature on this rare disorder.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Estudos de Associação Genética , Adolescente , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Fenótipo , Cromossomos em Anel
15.
Am J Med Genet A ; 164A(5): 1170-4, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24478002

RESUMO

Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17 bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Aracnodactilia/diagnóstico , Aracnodactilia/genética , Blefarofimose/diagnóstico , Blefarofimose/genética , Contratura/diagnóstico , Contratura/genética , Córnea/anormalidades , Doenças da Córnea/diagnóstico , Doenças da Córnea/genética , Homozigoto , Receptores Depuradores Classe F/genética , Deleção de Sequência , Adulto , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Cromossomos Humanos Par 22 , Éxons , Facies , Deformidades Congênitas da Mão , Humanos , Masculino , Fenótipo , Radiografia , Análise de Sequência de DNA , Adulto Jovem
16.
Mol Syndromol ; 5(6): 268-75, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25565926

RESUMO

Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.

17.
J Med Case Rep ; 6: 283, 2012 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-22958471

RESUMO

INTRODUCTION: Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported in the literature. There are only two previous reports of cases where patients with ring chromosome 15 have been followed-up. CASE PRESENTATION: We report here on the 20-year clinical and cytogenetic follow-up of a patient with a ring chromosome 15. Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, café-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen, dorsolumbar scoliosis and mild intellectual disability. She was followed-up from the age of eight to 28 years. When she was 27 years old, she was reported by her mother to present with compulsive overeating and an aggressive mood when challenged. Karyotyping revealed that the majority of her cells harbored one normal chromosome and one ring chromosome. Silver staining revealed the presence of the nucleolar organizer region in the ring chromosome. Ring loss and/or secondary aberrations exhibited a slight increase over time, from 4.67% in 1989 to 7.67% in 2009, with the presence of two monocentric rings, cells with interlocked rings, a dicentric ring, and broken or open rings. A genome-wide array technique detected a 5.5Mb deletion in 15q26.2. CONCLUSIONS: We observed that some phenotypic alterations in our patient can be associated with gene loss and haploinsufficiency. Other features may be related to different factors, including ring instability and epigenetic factors.

18.
Gene ; 496(1): 59-62, 2012 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-22285927

RESUMO

We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification (MLPA) techniques identified an unexpected large unbalanced genomic aberration: a 17.6Mb deletion of 9p associated to a 14.8 Mb duplication of 20p. The deleted 9p genes, especially CER1 and FREM1, seem to be more relevant to the phenotype than the duplicated 20p genes. This study also shows the relevance of using molecular techniques to make an accurate diagnosis in patients with dysmorphic features and multiple anomalies suggestive of chromosome aberration, even if on G-banding their karyotype appears to be normal. Fluorescence in situ hybridization (FISH) was necessary to identify a masked balanced translocation in the patient's mother, indicating the importance of associating cytogenetic and molecular techniques in clinical genetics, given the implications for patient management and genetic counseling.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos Par 20 , Cromossomos Humanos Par 9 , Anormalidades Múltiplas/diagnóstico , Adulto , Bandeamento Cromossômico , Duplicação Cromossômica/genética , Cromossomos Humanos Par 20/genética , Cromossomos Humanos Par 9/genética , Análise Citogenética , Reações Falso-Negativas , Feminino , Humanos , Lactente , Cariótipo , Masculino , Atrofia Muscular/genética , Adulto Jovem
19.
Rev. psiquiatr. Rio Gd. Sul ; 33(2): 116-120, 2011. tab
Artigo em Português | LILACS-Express | ID: lil-599959

RESUMO

Os transtornos globais do desenvolvimento (TGD) são caracterizados por anormalidades qualitativas e abrangentes em três domínios do desenvolvimento: interação social recíproca, comunicação e presença de um repertório comportamental de interesses restritos, repetitivo e estereotipado. Estudos genéticos têm identificado a recorrência de TGD numa mesma família. O presente estudo teve por objetivo rastrear a ocorrência de sinais e sintomas de TGD em irmãos de indivíduos com esse diagnóstico. Participaram do estudo 25 sujeitos provenientes de 19 famílias. A coleta de dados foi realizada mediante a utilização da versão brasileira do Autism Screening Questionnaire (ASQ), ou Questionário de Comportamento e Comunicação Social. Foram confirmados dois casos de irmãos com TGD (10,52 por cento dos casos), sendo um irmão gêmeo monozigótico e um irmão de um probando com diagnóstico de síndrome de Asperger. Os dados apontam para taxas mais elevadas do que aquelas descritas na literatura (2-6 por cento) e se aproximam dos achados que relatam 10 por cento de recorrência familiar em gêmeos dizigóticos. Esse resultado fornece evidências de possíveis fatores neurogenéticos para explicar a ocorrência de TGD nos familiares dos probandos estudados e salienta a necessidade de efetuar o rastreamento desse transtorno não só na criança avaliada, mas também em seus irmãos.


Pervasive developmental disorders (PDD) are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening Questionnaire (ASQ). Two cases of PDD in siblings were confirmed (10.52 percent of cases): a monozygotic twin brother and the brother of a proband with a diagnosis of Asperger syndrome. Our data indicate higher rates of PDD in siblings than described in the literature (2-6 percent), close to the findings that suggest a 10 percent rate of familial recurrence in dizygotic twins. This result provides evidence of possible neurogenetic factors to explain the occurrence of PDD in relatives of the probands assessed and underscores the need to screen not only the child under evaluation, but also their siblings.

20.
Am J Med Genet A ; 152A(11): 2865-9, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20979193

RESUMO

We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture.


Assuntos
Cromossomos Humanos Par 14/genética , Análise Citogenética , Cromossomos em Anel , Criança , Pré-Escolar , Bandeamento Cromossômico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Gravidez , Adulto Jovem
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