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1.
Rev Paul Pediatr ; 42: e2023017, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38716993

RESUMO

OBJECTIVE: To evaluate the pattern of eye-gaze of preterm (PT), autism spectrum disorder (ASD) and neurotypical (Ty) children. METHODS: A cross-sectional study with eight preterm (born with ≤2000 g weight), nine ASD and five Ty male children, between six and nine years old, was performed. The eye gaze was evaluated presenting a board with a couple in social interaction, and a video with four children playing with blocks, projected in a screen computer, successively, evaluating the time that the children looked at each stimulus. RESULTS: Although all the groups focus on the central social figure with no significant differences, ASD presented significant differences in time fixation of the objects (p=0.021), while premature children fixated more time in the central social interaction than in the whole scene than typical children. CONCLUSIONS: Although this study found noteworthy differences in the eye-gaze patterns among the three groups, additional research with a more extensive participant pool is necessary to validate these preliminary results.


Assuntos
Transtorno do Espectro Autista , Fixação Ocular , Recém-Nascido Prematuro , Comportamento Social , Interação Social , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Prematuro/psicologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Humanos , Masculino , Criança , Estudos Transversais , Tecnologia de Rastreamento Ocular , Movimentos Oculares , Recém-Nascido
2.
Eur J Paediatr Neurol ; 51: 1-8, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38729045

RESUMO

OBJECTIVE: This study evaluated the receptive vocabulary of girls diagnosed with Rett Syndrome (RS) by employing eye-tracking technology and examined how these objective measures compared with parents' perceptions of their daughters' language abilities. METHOD: Fourteen girls with RS and eleven typically developing peers participated. Instruments included the Kerr Scale, a parental questionnaire on communication skills, the Peabody Picture Vocabulary Test - PPVT-4, and eye-tracking equipment. The PPVT-4's initial 12 cards, each displaying four images, were presented on screen for 5 s for the child's initial inspection. Subsequently, the same card was shown for 5 s with instructions to identify the picture matching the word, repeated three times in a randomized order. RESULTS: Eye-tracking assessments revealed that girls with RS with less severe symptoms, performed below typically developing peers with aged 3-4 years. The number of eye fixations emerged as a reliable metric for assessing their performance. A positive correlation was found between parental reports of their daughters' vocabulary knowledge and their ability to identify the correct stimulus, suggesting comprehension and active engagement in the testing process. CONCLUSION: This study presents a pioneering approach by combining parental perceptions with eye-tracking measures to assess receptive vocabulary in girls diagnosed with Rett Syndrome. Despite showing lower performance levels compared to significantly younger peers, the findings suggest that these individuals use less effectively eye contact as a mode of communication.


Assuntos
Movimentos Oculares , Pais , Síndrome de Rett , Vocabulário , Humanos , Síndrome de Rett/fisiopatologia , Síndrome de Rett/psicologia , Feminino , Movimentos Oculares/fisiologia , Pré-Escolar , Pais/psicologia , Criança , Tecnologia de Rastreamento Ocular , Testes de Linguagem , Inquéritos e Questionários
3.
Front Psychol ; 12: 666245, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33995223

RESUMO

Background: This study developed a photo and video database of 4-to-6-year-olds expressing the seven induced and posed universal emotions and a neutral expression. Children participated in photo and video sessions designed to elicit the emotions, and the resulting images were further assessed by independent judges in two rounds. Methods: In the first round, two independent judges (1 and 2), experts in the Facial Action Coding System, firstly analysed 3,668 emotions facial expressions stimuli from 132 children. Both judges reached 100% agreement regarding 1,985 stimuli (124 children), which were then selected for a second round of analysis between judges 3 and 4. Results: The result was 1,985 stimuli (51% of the photographs) were produced from 124 participants (55% girls). A Kappa index of 0.70 and an accuracy of 73% between experts were observed. Lower accuracy was found for emotional expression by 4-year-olds than 6-year-olds. Happiness, disgust and contempt had the highest agreement. After a sub-analysis evaluation of all four judges, 100% agreement was reached for 1,381 stimuli which compound the ChildEFES database with 124 participants (59% girls) and 51% induced photographs. The number of stimuli of each emotion were: 87 for neutrality, 363 for happiness, 170 for disgust, 104 for surprise, 152 for fear, 144 for sadness, 157 for anger 157, and 183 for contempt. Conclusions: The findings show that this photo and video database can facilitate research on the mechanisms involved in early childhood recognition of facial emotions in children, contributing to the understanding of facial emotion recognition deficits which characterise several neurodevelopmental and psychiatric disorders.

4.
Braz J Psychiatry ; 31(1): 30-3, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19506772

RESUMO

OBJECTIVE: To translate into Portuguese, back-translate, culturally adapt and validate a screening instrument for pervasive developmental disorder, the Autism Screening Questionnaire, for use in Brazil. METHOD: A sample of 120 patients was selected based on three groups of 40: patients with a clinical diagnosis of pervasive developmental disorder, Down syndrome, or other psychiatric disorders. The self-administered questionnaire was applied to the patients' legal guardians. Psychometric measures of the final version of the translated questionnaire were tested. RESULTS: The score of 15 had sensitivity of 92.5% and specificity of 95.5% as a cut-off point for the diagnosis of pervasive developmental disorder. Internal validity for a total of 40 questions was 0.895 for alpha and 0.896 for KR-20, ranging from 0.6 to 0.8 for both coefficients. Test and retest reliability values showed strong agreement for most questions. CONCLUSIONS: The final version of this instrument, translated into Portuguese and adapted to the Brazilian culture, had satisfactory measurement properties, suggesting preliminary validation proprieties. It was an easy-to-apply, useful tool for the diagnostic screening of individuals with pervasive developmental disorder.


Assuntos
Transtorno Autístico/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Comparação Transcultural , Programas de Rastreamento , Inquéritos e Questionários/normas , Análise de Variância , Transtorno Autístico/psicologia , Brasil , Criança , Transtornos Globais do Desenvolvimento Infantil/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Métodos Epidemiológicos , Feminino , Humanos , Idioma , Masculino , Psicometria , Tradução
5.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 42: e2023017, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1559165

RESUMO

ABSTRACT Objective: To evaluate the pattern of eye-gaze of preterm (PT), autism spectrum disorder (ASD) and neurotypical (Ty) children. Methods: A cross-sectional study with eight preterm (born with ≤2000 g weight), nine ASD and five Ty male children, between six and nine years old, was performed. The eye gaze was evaluated presenting a board with a couple in social interaction, and a video with four children playing with blocks, projected in a screen computer, successively, evaluating the time that the children looked at each stimulus. Results: Although all the groups focus on the central social figure with no significant differences, ASD presented significant differences in time fixation of the objects (p=0.021), while premature children fixated more time in the central social interaction than in the whole scene than typical children. Conclusions: Although this study found noteworthy differences in the eye-gaze patterns among the three groups, additional research with a more extensive participant pool is necessary to validate these preliminary results.


RESUMO Objetivo: Avaliar o padrão de fixação visual de crianças nascidas prematuras (PT), com transtorno do espectro do autismo (TEA/ASD) e neurotípicas (Ty). Métodos: Estudo transversal incluindo oito meninos prematuros (nascidos com peso ≤2000 g), nove TEA e cinco Ty, com idade entre 6 e 9 anos. A varredura visual foi avaliada apresentando-se imagem de casal em interação social e vídeo com crianças brincando. A figura e o vídeo foram projetados em tela de computador, sucessivamente, sendo avaliado o tempo de fixação para cada estímulo. Resultados: Apesar de os três grupos de crianças focarem o olhar na figura social central sem diferenças significativas, crianças com TEA apresentaram diferenças significativas no tempo de fixação em objetos (p=0,021), enquanto prematuros fixaram o olhar mais tempo na interação social central do que na cena como um todo. Conclusões: Embora tenham sido notadas algumas diferenças significativas nos padrões de olhar para os três grupos, é necessário realizar mais pesquisas com uma amostra maior para confirmar esses resultados iniciais.

6.
Med Hypotheses ; 70(2): 352-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-17601677

RESUMO

Neurogenesis studies had an increased development after BrdU (5-bromo-3'-deoxyuridine), a marker of cell proliferation. Today, several studies have showed the relevance of neurogenesis in the hippocampal formation. Notwithstanding, other brains areas have been described presenting neurogenesis, including the amygdala. This key structure is a complex cerebral region which has been associated with social behaviors and the emotional significance of the daily experiences. Several studies have associated the amygdala to the autism, a severe neurodevelopmental disorder. In this paper, we discuss the hypothesis of neurogenesis in the amygdala as a contributing cause of autism. The social skills require competent new neuronal connections, including efficient plasticity synaptic rearranging. Interestingly, emotional context cannot be imprinting in mature neurons in the presence of GABA, a neurotransmitter release during new environments experiences. However, it is known that new neurons are not well responsive to GABA stimulation, allowing the long-term potentiation necessary for the learning process. Based on these evidence it is tantalizing to hypothesize that the sociability impairment seen in some individuals with autism may partly be assigned to impaired regulation of the GABAergic system and to the impact of this impairment on the adequate functioning of the amygdala and on its capacity to store new experiences and to modulate the plasticity of the corticostriatal connections.


Assuntos
Tonsila do Cerebelo/fisiopatologia , Transtorno Autístico/etiologia , Tonsila do Cerebelo/crescimento & desenvolvimento , Tonsila do Cerebelo/patologia , Animais , Transtorno Autístico/patologia , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia , Humanos , Modelos Neurológicos , Plasticidade Neuronal , Comportamento Social , Ácido gama-Aminobutírico/fisiologia
7.
J. bras. psiquiatr ; 72(1): 4-11, jan.-mar. 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1440449

RESUMO

ABSTRACT Objective: The aim of this study was to compare the social cognition profiles of male adults with ASD (n = 15), SCHZ (n = 16) and controls (n = 20). Change the second sentence of the abstract. Methods: A cross-sectional assessment of social cognition domains with emotional face perception with eye tracking was performed, and two IQ measures (Verbal IQ and Performance IQ) (Wechsler Adult Intelligence Scale), and the DSM-IV Structured Clinical Interview were applied. Results: There were no significant differences in terms of average performance in social cognition tests or eye tracking tasks between the ASD and SCHZ groups. However, both had lower performances in most cases when compared to the control group. In the social cognition tasks, individuals in the control group performed better than both clinical groups. Conclusion: Although differences were identified between individuals with ASD and SCHZ, it was not possible to determine patterns or to differentiate the clinical groups.


RESUMO Objetivo: O objetivo deste estudo foi comparar os perfis de cognição social de adultos do sexo masculino com TEA (n = 15), SCHZ (n = 16) e controles (n = 20). Métodos: Foram aplicadas uma avaliação transversal dos domínios de cognição social com percepção emocional com rastreamento ocular, duas medidas de QI (QI verbal e QI de desempenho) (Escala de Inteligência Adulta de Wechsler) e a Entrevista Clínica Estruturada DSM-IV. Resultados: Não houve diferenças significativas em termos de desempenho médio em testes de cognição social ou tarefas de rastreamento ocular entre os grupos ASD e SCHZ. No entanto, ambos tiveram desempenhos mais baixos na maioria dos casos, quando comparados ao grupo controle. Nas tarefas de cognição social, os indivíduos do grupo controle tiveram melhor desempenho do que ambos os grupos clínicos. Conclusão: Embora tenham sido identificadas diferenças entre indivíduos com TEA e SCHZ, não foi possível determinar padrões ou diferenciar os grupos clínicos.

8.
Arq Bras Oftalmol ; 70(1): 31-6, 2007.
Artigo em Português | MEDLINE | ID: mdl-17505715

RESUMO

PURPOSE: To analyze eye movements in asymmetric visual search using the task of normal and mirrored position letters. To evaluate the effect of familiarity and stimulus features. METHODS: Eighty-three university students with normal or corrected-to-normal vision were asked to search for a letter in inverted position to the letters in a group of either normal or mirrored letters. Four types of letters were used (Z, N, E and G) and the eye movements were tracked by a specialized computer-based system (eyetracking). The analyzed measurements were: reaction time, fixation number and duration, saccade distance and duration. RESULTS: All measures varied with the type of letter. Reaction time, fixation number, and saccade distance were higher when the task was to find the normal letter in a group of mirrored letters. In this condition, fixation duration was smaller. Interaction was found between familiarity and the type of letter for the reaction time, fixation number and duration. The reaction time and fixation number increased together with the stimulus complexity, with a greater increase for the normal letter target. Fixation duration, however, decreased with the complexity of the stimuli and the search condition. CONCLUSIONS: Finding a mirrored letter among normal letters proved to be easier than the contrary. The letter type also affected the performance. When the context is formed of unfamiliar complex stimuli, the fixation duration is shorter, indicating a narrower span for visual processing. Therefore, a greater number of fixations with shorter duration are needed for the unfamiliar context while less fixations with greater duration are needed for the familiar context.


Assuntos
Movimentos Oculares/fisiologia , Reconhecimento Visual de Modelos , Estimulação Luminosa/métodos , Tempo de Reação/fisiologia , Adulto , Análise de Variância , Feminino , Fixação Ocular/fisiologia , Humanos , Masculino
9.
J Pediatr (Rio J) ; 82(1): 33-9, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16532145

RESUMO

OBJECTIVE: To describe the profile of premature newborns participating in the Kangaroo Mother Care Program and the data from follow-up, and to verify possible correlations between these descriptive data. METHODS: A descriptive study of 70 children, 5-34 months old, born between April 1999 and 2002, with gestational age of 32.5 weeks, birth weight 1,560 g, participating in the Kangaroo Mother Care Program (modified for Brazil) for at least 3 days. They were discharged from Kangaroo Mother Care weighing around 3,000 g and followed-up to 1 year. RESULTS: Birth weight, gestational age and Apgar scores were determinants of better clinical, nutritional and motor outcomes as well as for enrollment on the Kangaroo Mother Care Program. During the second phase of the program 8.6% of the children were readmitted due to apnea. Exclusive breastfeeding started at a mean postconceptual age of 35.3 weeks and mean age postpartum of 18.6 days. By hospital discharge, children were at a mean age of 29 days, mean weight of 1,734 g and 85.7% were on exclusive breastfeeding. Predominant breastfeeding up to 6 months of age was observed in 60.3%. We initially identified motor disorders in 42.8% decreasing to 14.3% in the final review of records, including cerebral palsy (6.9%) and retarded motor development (6.9%). CONCLUSIONS: Enrollment on the Kangaroo Mother Care Program, in common with data on breastfeeding and clinical outcomes were determined by gestational age and birth weight and were influenced by clinical conditions of each preterm infant. Kangaroo Mother Care proved itself a good breastfeeding instrument, but its role as an intervention for motor development must be better investigated.


Assuntos
Desenvolvimento Infantil/fisiologia , Cuidado do Lactente , Recém-Nascido Prematuro/fisiologia , Estado Nutricional/fisiologia , Adulto , Peso ao Nascer , Aleitamento Materno , Pré-Escolar , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Alta do Paciente , Estudos Retrospectivos , Aumento de Peso
10.
Distúrbios da comunicação ; 33(3): 462-472, set.2021. tab, ilus
Artigo em Português | LILACS | ID: biblio-1410530

RESUMO

Introdução: Movimentos repetitivos associados a alterações de linguagem representam dois importantes sinais de alerta para os TEA (Transtornos do Espectro do Autismo). Ainda que, segundo pesquisas atuais, o atraso na aquisição da linguagem não faça parte do conjunto de características comumente observadas em crianças na primeira infância com Transtorno do Movimento Estereotipado (TME), a sua coocorrência pode ser mais comum do que se imagina, o que pode levar a diagnósticos falso positivo para os TEA. Objetivo: Caracterizar o processo desviante de aquisição da linguagem associado ao TME, buscando diferenciar das características específicas aos TEA. Método: A presente pesquisa apresenta o relato de caso de duas crianças, na faixa etária dos 30 aos 36 meses, com importante atraso na aquisição da fala associado à presença de movimentos estereotipados, com perfis considerados de risco para o autismo. Resultados: Na primeira avaliação as duas crianças apresentavam escore médio referente ao número de sinais de alerta para os TEA. Após intervenção de 6 meses, para diagnóstico diferencial, houve queda no número de sinais de risco, como remissão de alguns comportamentos característicos dos TEA, melhora na intensidade dos movimentos repetitivos e aumento do repertório de fala. Conclusão: Ainda que a presença de movimentos repetitivos ou estereotipadas seja um dos sinais clássicos dos TEA, mesmo que coocorra com outras alterações igualmente sugestivas a este diagnóstico, como o atraso na fala, para que o diagnóstico seja conclusivo, é necessária a observação da presença de outros sintomas que se manifestam de forma persistente ao longo do desenvolvimento.


Introduction: The repetitive movements associated with language disorders represent two important warning signs for ASD (Autism Spectrum Disorders). Even if, according to current research, the delay in language acquisition may not be part of the set of characteristics commonly observed in toddlers with Stereotyped Movement Disorder (SMD), this co-occurrence of language impairment and Stereotyped Movement Disorder may be more common than can be imagined, which leads to mistaken ASD diagnoses. Objective: To characterize the deviant language acquisition process associated with SMD, seeking to differentiate the specific characteristics of ASD. Method: This research presents a case report of two toddlers, aged 30 to 36 months, with an important delay in the acquisition and development of speech associated with the presence of stereotyped movements, with profiles considered at risk for autism. Results: The first assessment showed important results indicating ASD for both children. After a 6-month intervention, there was a decrease in the number of risk signs, such as remission of some behavior characteristic of ASD, improvement in the intensity of repetitive movements and increase of the speech repertoire. Conclusion: Although the presence of repetitive or stereotyped movements is one of the classic signs of ASD, even if it co-occurs with other disorders equally suggestive to this diagnosis, such as delayed speech, for a conclusive diagnosis it is necessary the observation of other symptoms that manifest themselves persistently throughout development.


Introducción: Los movimientos repetitivos asociados con los cambios de lenguaje representa importantes señales de advertencia para los TEA (Trastornos del Espectro Autista). Aunque, según la investigación actual, el retraso en la adquisición del lenguaje no es parte del conjunto de características comúnmente observadas en niños en la primera infancia con trastorno de movimientos estereotipados, su coocurrencia puede ser más común de lo imaginado, lo que conduce a diagnósticos falsos positivos de TEA. Objetivo: Caracterizar el proceso de adquisición del lenguaje desviado asociado al Trastorno de Movimientos Estereotipados (TME), buscando diferenciar las características específicas de los TEA. Método: Esta investigación presenta el caso clínico de dos niños, de 30 a 36 meses, con un importante retraso en la adquisición y desarrollo del habla asociado a la presencia de movimientos estereotipados, con perfiles considerados en riesgo de autismo. Resultados: En la primera evaluación, los dos niños obtuvieron una puntuación media con respecto al número de señales de advertencia de TEA. Después de una intervención de 6 meses, diagnóstico diferencial, hubo una disminución en el número de signos de riesgo, como la remisión de algunos comportamientos característicos de los TEA, una mejora en la intensidad de los movimientos repetitivos y un aumento en el repertorio del habla. Conclusión: Si bien la presencia de movimientos repetitivos o estereotipados es uno de los signos clásicos de los TEA, aunque concurra con otros cambios igualmente sugestivos para este diagnóstico, como el retraso en el habla, para que el diagnóstico sea concluyente es necesaria la observación de la observación. otros síntomas que se manifiestan de forma persistente a lo largo del desarrollo.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Transtorno de Movimento Estereotipado/complicações , Diagnóstico Diferencial , Transtornos do Desenvolvimento da Linguagem/complicações , Avaliação de Eficácia-Efetividade de Intervenções , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/etiologia
11.
Arch. Clin. Psychiatry (Impr.) ; 48(3): 155-161, May-June 2021. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1349967

RESUMO

ABSTRACT Objective: Voluntary and automatic orienting of attention enable proper processing of environmental information. Few studies have assessed how this process varies during development in children with attention deficit hyperactivity disorder (ADHD). Methods: This study analyzed voluntary and automatic orienting in 30 children with ADHD and 30 age and sex matched controls (Control group-CG). Two experiments assessed voluntary and automatic orienting by recording reaction times (RT) to conditions in relation to temporal interval, spatial position, cue validity and age. The RT medians calculated for each condition and participant were analyzed using ANOVA to compare ADHD and CG. Results: Children with ADHD exhibited globally higher RT than the CG group. They also showed prejudices during the reorienting process and demonstrated adequate voluntary orienting for shorter intervals. In automatic task, there was no group interaction, expressing early facilitation, but not inhibition of return. Conclusion: These results identify correlations of ADHD and the children's age in relation to voluntary and automatic orienting of attention.

12.
Brain Dev ; 27(6): 437-8, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15967617

RESUMO

This study details a case of Rett Syndrome where the patient's respiratory dysfunction was improved after buspirone was administered. Polygraphic studies in the waking state, before and after treatment with 5 mg of buspirone twice a day, were obtained. Breathing movements, oxygen saturation and end-tidal carbon were monitored. Average oxygen saturation increased from 86.9 to 91%, and the period of saturation below 90% was reduced by 42.2%. The oxygen saturation improvement observed in this case suggests that buspirone might be useful in treating respiratory dysfunction associated with Rett Syndrome. Controlled clinical trials are needed to provide more evidence.


Assuntos
Buspirona/administração & dosagem , Insuficiência Respiratória/tratamento farmacológico , Síndrome de Rett/tratamento farmacológico , Agonistas do Receptor de Serotonina/administração & dosagem , Adolescente , Feminino , Humanos , Oxigênio/sangue , Insuficiência Respiratória/etiologia , Síndrome de Rett/complicações
14.
Arq Neuropsiquiatr ; 73(5): 402-7, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-26017205

RESUMO

OBJECTIVE: To compare visual fixation at social stimuli in Rett syndrome (RT) and autism spectrum disorders (ASD) patients. METHOD: Visual fixation at social stimuli was analyzed in 14 RS female patients (age range 4-30 years), 11 ASD male patients (age range 4-20 years), and 17 children with typical development (TD). Patients were exposed to three different pictures (two of human faces and one with social and non-social stimuli) presented for 8 seconds each on the screen of a computer attached to an eye-tracker equipment. RESULTS: Percentage of visual fixation at social stimuli was significantly higher in the RS group compared to ASD and even to TD groups. CONCLUSION: Visual fixation at social stimuli seems to be one more endophenotype making RS to be very different from ASD.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Olho/fisiopatologia , Fixação Ocular/fisiologia , Síndrome de Rett/fisiopatologia , Percepção Visual/fisiologia , Adolescente , Adulto , Fatores Etários , Análise de Variância , Criança , Pré-Escolar , Face , Feminino , Humanos , Masculino , Projetos Piloto , Percepção Social , Fatores de Tempo , Adulto Jovem
15.
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
16.
Braz J Psychiatry ; 25(2): 110-3, 2003 Jun.
Artigo em Português | MEDLINE | ID: mdl-12975709

RESUMO

This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology. and clinical outcome (epilepsy, respiratory disorders, autonomic disturbances and nutritional aspects). Although it has been known as a female condition, nowadays it is described the possibility of affected males with a different phenotype.


Assuntos
Síndrome de Rett , Feminino , Humanos , Masculino , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética
17.
Psicol. teor. prát ; 21(1): 170-185, jan.-abr. 2019. tab
Artigo em Inglês, Português | LILACS | ID: biblio-1002929

RESUMO

This study examined the parents' journey in the search of a diagnosis of Autism Spectrum Disorder (ASD) for their child and it was accomplished in two stages. The Stage 1 included the analysis of 20 records of children diagnosed with ASD attended in a clinic (2015-2017). We verified that the symptoms had been noticed between ages 13-24 months by most parents; the most reported symptom was verbal communication delay and different neuropediatricians were suspicious of the diagnosis; the most performed treatment was speech therapy. The Stage 2 was implemented to complement the findings of stage 1 and to characterize the clinic (311 cases in total). In this sample, we verified that 65.5% of the children were diagnosed with ASD; the parents and a single neuropediatrician were responsible for the referral. Despite the early detection of changes and seeking help, the parents sometimes received guidance that the child's development matched the expected for the age.


Este estudo averiguou o percurso de pais em busca de diagnóstico de Transtorno do Espectro Autista (TEA) para seus filhos e foi realizado em duas fases. Na fase 1, foi realizada a análise de 20 prontuários de pessoas atendidas em uma clínica entre 2015-2017 e que receberam diagnóstico de TEA. Nessa amostra, constatou-se que a maioria dos pais percebeu os sintomas entre 13-24 meses; o sintoma mais relatado foi atraso na comunicação verbal; os profissionais que mais levantaram suspeita de TEA foram diferentes neuropediatras; o tratamento mais realizado foi o fonoaudiológico. Na fase 2, para complementar os achados da fase 1 e caracterizar a clínica, o banco de dados foi analisado (total de 311 casos). Nessa amostra, verificou-se que 65,5% dos casos tiveram diagnóstico de TEA; as origens da maioria dos encaminhamentos eram um único neuropediatra e os pais. Apesar de detectarem alterações em idades precoces e buscarem ajuda, os pais, algumas vezes, receberam orientações de que o desenvolvimento da criança estava adequado para a idade.


Este estudio determinó el recorrido de los padres en busca del diagnóstico del Trastorno del Espectro Autista (TEA). Se llevó a cabo en dos fases: 1) análisis de 20 registros médicos de personas atendidas en una clínica (2015-2017) y que recibieron diagnóstico del TEA. La mayoría de los padres percibieron los síntomas entre 13-24 meses; lo más reportado era retardo de lenguaje; profesionales que levantaron la sospecha del TEA fueron diversos neuropediatras; terapia del habla fue tratamiento más logrado; 2) para complementar los hallazgos de la fase 1 y caracterizar la clínica, se analizó su base de datos (total: 311 casos): 65,5% de los casos tenía el diagnóstico del TEA; origen de la mayoría de los referidos: un solo neuropediatra y padres. A pesar de detectar cambios en las edades tempranas y buscar ayuda, los padres a veces recibieron orientación que el desarrollo del niño era apropiado para la edad.


Assuntos
Humanos , Pré-Escolar , Sinais e Sintomas , Estudo Comparativo , Desenvolvimento Infantil , Relações Familiares , Transtorno do Espectro Autista , Acessibilidade aos Serviços de Saúde , Transtorno Autístico , Terapias Complementares , Diagnóstico
18.
Arq Neuropsiquiatr ; 71(11): 871-6, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24394874

RESUMO

OBJECTIVE: To evaluate the theory of mind in autism spectrum disorders (ASD) and control individuals by applying the Strange Stories test that was translated and adapted to the Portuguese language. METHOD: Twenty-eight children with ASD and 56 controls who were all male and aged between 6 and 12 years participated in the study. RESULTS: There were significant differences between the median scores of the groups for each of the 12 stories of the test and for the sum total of all the median scores. The median scores for all stories were significantly greater in the control group than those in the experimental group (children with ASD). In addition, the protocol had excellent internal consistency. CONCLUSION: The theory of mind skills assessed with the Strange Stories test indicated alterations in children with ASD compared with children in the control group.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Testes Neuropsicológicos , Teoria da Mente/fisiologia , Fatores Etários , Análise de Variância , Estudos de Casos e Controles , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Humanos , Relações Interpessoais , Masculino , Valores de Referência , Reprodutibilidade dos Testes , Percepção Social , Inquéritos e Questionários
19.
Psicol. teor. prát ; 20(3): 86-99, Sept.-Dec. 2018. ilus, tab
Artigo em Inglês, Português | LILACS | ID: biblio-984887

RESUMO

Prematurity has been associated with Autism Spectrum Disorders (ASD), and the early diagnosis is relevant for this population. This study compares the frequency of positive screening for ASD signs using M-CHAT at 18-24 months (n = 60) and ABC questionnaires at 30-36 months (n = 58) of corrected age in toddlers born prematurely with birth weight < I500g and investigates ASD diagnosis in suspected cases. Toddlers screened positive were evaluated with a DSM-5 diagnostic protocol. 6.7% of toddlers screened positive for M-CHAT and 5.2% for ABC. ASD diagnosis was confirmed for 3.3% of children. An agreement between M-CHAT and ABC questionnaires was low (k = 0.241, p = 0.063). The frequency of suggestive signs of ASD detected by the M-CHAT and the ABC at different moments was similar, and the diagnosis rate of ASD was high. The screening at I8-24 month added to the screening at 30-36 months increased the frequency of positive screening for signs of ASD in preterm.


Prematuridade tem sido associada com Transtorno do Espectro do Autismo (TEA). Diagnóstico precoce é relevante para essa população. Este estudo comparou a frequência de rastreamento positivo para sinais de TEA utilizando os questionários M-CHAT aos 18-24 meses (n = 60) e ABC aos 30-36 meses (n = 58) de idade corrigida em prematuros nascidos com peso < 1.500 g e investigou diagnóstico de TEA nos casos suspeitos com protocolo diagnóstico seguindo DSM-5. Dos prematuros, 6,7% foram positivos para M-CHAT e 5,2% para ABC. Diagnóstico de TEA foi confirmado para 3,3% das crianças. Houve baixa concordância entre M-CHAT e ABC (k = 0,241, p = 0,063). A frequência de sinais sugestivos de TEA detectada pelos dois instrumentos em diferentes momentos foi similar; e a taxa de diagnóstico de TEA, alta. O rastreamento aos 18-24 meses, acrescido de rastreamento aos 30-36 meses, aumenta a frequência de rastreamento positivo para sinais de TEA em prematuros.


Prematuridad es asociada al Transtorno del Espectro del Autismo (TEA). Diagnóstico precoz es relevante para esta población. Este estudio comparó la frequen-cia de rastreo positivo para senales de TEA utilizando los questionários M-CHAT a los 18-24 meses (n = 60) y ABC a los 30-36 meses (n = 58) de edad corregida em prematuros nacidos com peso < 1.500 g, y averiguo diagnóstico de TEA em los casos sospe-chosos, con protocolo diagnóstico siguiendo DSM-5. 6,7% de los prematuros fueron positivos para M-CHAT y 5,2% para ABC. Diagnóstico de TEA fue confirmado en 3,3% de los prematuros. Hubo baja concordância entre M-CHAT y ABC (k = 0,241, p = 0,063). La frequencia de senales de TEA detectada por los dos instrumentos en diferentes momentos fue similar, y la tasa de diagnóstico de TEA fue alta. El rastreo a los 18-24 meses, sumado al rastreo a los 30-36 meses aumenta la frequência de rastreo positivo para senales de TEA en prematuros.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Recém-Nascido Prematuro , Diagnóstico , Transtorno do Espectro Autista , Recém-Nascido de Baixo Peso , Criança , Desenvolvimento Infantil , Inquéritos e Questionários
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