Linguagem, neurodesenvolvimento e comportamento na Síndrome de Angelman: relato de caso / Language, neurodevelopment, and behavior in Angelman syndrome: a case report

RESUMO Objetivo O objetivo deste estudo é apresentar achados de linguagem, comportamento e neurodesenvolvimento de uma menina com diagnóstico da Síndrome de Angelman, avaliada aos três e aos oito anos. Método Os instrumentos de avaliação foram Observação do Comportamento Comunicativo, Early Language Milestone Scale (ELM) e Teste de Screening de Desenvolvimento DENVER-II (TSDD-II). Resultados No caso apresentado, verifica-se a presença dos sinais fenotípicos da SA, tais como boca larga, dentes espaçados, língua protuberante, estrabismo, fissuras palpebrais ascendentes e sialorreia. Na avaliação de linguagem, foram verificados déficits expressivos e receptivos, com ausência de oralidade e prejuízos na compreensão. O TSDD-II e a ELMS indicaram grave comprometimento de todas as habilidades avaliadas aos três e aos oito anos. O desempenho encontrado, nas duas avaliações, foi muito semelhante em todas as áreas do desenvolvimento infantil. Ao longo dos anos, verificou-se pouca evolução, apesar do grande investimento terapêutico e educacional. Conclusão A presença de um quadro complexo como a SA demanda necessidades clínicas de alta complexidade, situação agravada frente à escassez de recursos terapêuticos que possam minimizar os impactos deletérios da síndrome, culminando em comprometimento da qualidade de vida da população com a SA, bem como de suas famílias.

ABSTRACT Purpose This study aimed to present findings on language, behavior, and neurodevelopment in a girl diagnosed with Angelman Syndrome, evaluated when she was three and eight years old. Methods The following evaluation instruments were used: Observation of Communication Behavior, Early Language Milestone (ELM) Scale, and Denver Developmental Screening Test, 2nd edition (DDST-II). Results In this case report, presence of AS phenotype signals such as wide mouth and wide-spaced teeth, tongue thrusting, strabismus, up slanting palpebral fissures, and sialorrhea are verified. Expressive and receptive deficits were verified in the language assessment, with the absence of orality and loss of comprehension with very similar performances in both evaluations. The ELM and DDST-II tests indicated severe impairment of all abilities evaluated at both three and eight years of age. Performance was quite similar in both evaluations in all areas of child development. Little progress was observed over time despite the great therapeutic and educational investment. Conclusion The presence of a complex scenario such as AS demands high complexity clinical needs, a situation that is worsened due to scarcity of therapeutic resources that could minimize the harmful impacts of AS and culminate in increased quality of life for the AS population and their families.

Caracterización de las familias que abandonan el tratamiento de estimulación temprana. Centro Senén Casas Regueiro / Characterization of the families that abandon the early stimulation treatment. Senén Casas Regueiro Center

Introducción: se desconoce por qué las familias y consecuentemente el infante interrumpe o abandona el tratamiento establecido por el Programa de Atención Temprana para los trastornos del neurodesarrollo. Objetivo: Describir las características de las familias que abandonan el tratamiento de estimulación temprana en el centro Senén Casa Regueiro. Material y Métodos: estudio descriptivo, transversal en familias de infantes de 0 a 12 años con trastornos del neurodesarrollo en La Habana Vieja durante el periodo 2014-2015, que considera variables demográficas, sociales y económicas. En el análisis se emplearon las frecuencias absolutas y relativas, la media, la desviación estándar y las pruebas x2. Resultados: la prevalencia de abandono del tratamiento fue del 88,0 por ciento. Los porcentajes de mayor interrupción se presentaron en madres o tutores de 15-18 años (47,20 por ciento, x2 = 10,47 p = 0.0001) y en hijos de padres divorciados (52,00 por ciento). El nivel de escolaridad que mayor porcentaje aportó al problema fue el primario (52,00 por ciento, x2 = 20, 69 p= 0,0000), en familias con mayor número de hijos; de 3-4 hijos (86,40 por ciento, x2 = 29,90 p = 0,00000), que poseían viviendas en malas condiciones (48,00 por ciento x2 = 9,45 p = 0,00021). Los tratamientos más prolongados expresaron mayor porcentaje de abandono (60,00 por ciento, x2 = 3,75 p = 0,053519). Tanto las familias que desertaron del tratamiento, como las que no, presentaron elevados porcentajes de buena satisfacción con el programa (95,20 por ciento y 94,12 por ciento respectivamente). Conclusiones: predominó el abandono al tratamiento en madres cuyos grupos de edades oscilaron entre 15-18 años, divorciadas, en niños con tratamientos más prolongados; destacándose el nivel de escolaridad primario de las madres y las malas condiciones de la vivienda. Asimismo, interrumpieron el tratamiento las familias con mayor número de hijos y menor número de personas con remuneración monetaria(AU)

Introduction: It is unknown why families and consequently, the infant interrupt or abandon the treatment established by the Early Care Program for neurodevelopmental disorders. Objective: To describe the characteristics of families that abandon the early stimulation treatment at the "Senén Casas Regueiro" Center of Comprehensive Pediatric Rehabilitation. Material and Methods: A descriptive, cross-sectional study was conducted in families of infants with neurodevelopmental disorders from 0 to 12 years old in Old Havana, during the period 2014-2015. Demographic, social, and economic variables were considered. Absolute and relative frequencies, the mean, the standard deviation, and the chi-squared tests were used in the analysis. Results: The prevalence of abandonment of treatment was 88.0 percent. The percentages of greatest interruption occurred in mothers or guardians aged 15-18 years (47.20 percent; x2= 10.47; p = 0.0001), and in children of divorced parents (52.00 percent). The level of education that contributed in the highest percentage to the problem was primary schooling (52.00 percent; x2 = 20, 69; p = 0.0000) in families with the largest number of children; families with 3-4 children (86.40 percent; X2 = 29.90; p = 0.00000), who lived in homes in poor conditions (48.00 percent x2 = 9.45; p = 0.00021). Longer treatments expressed a greater percentage of abandonment (60.00 percent; x2 = 3.75; p = 0.053519). Both the families that abandoned the treatment and those that did not do it, showed high percentages of good satisfaction with the program (95.20 percent and 94.12 percent, respectively). Conclusions: Abandonment of treatment predominated in mothers whose age groups ranged between 15-18 years; divorced; in children with more prolonged treatments; highlighting the mothers with primary schooling and poor housing conditions. Likewise, families with a greater number of children and a smaller number of people with monetary remuneration interrupted the treatment(AU)