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1.
Arch. argent. pediatr ; 120(2): e89-e92, abril 2022.
Article in Spanish | LILACS, BINACIS | ID: biblio-1363982

ABSTRACT

ElsíndromedeDownpredisponeatrastornosmieloproliferativos. Se estima que del 5 % al 30 % de los neonatos con esta condición desarrollarán mielopoyesis anormal transitoria. El tratamiento no está estandarizado; la exanguinotransfusión y la citarabina podrían ser efectivos. Se describen dos casos de pacientes con síndrome de Down, quienes durante el período neonatal presentaron leucemia mieloide aguda y mielopoyesis anormal transitoria, los tratamientos utilizados y sus desenlaces. Se considera que la sospecha y el diagnóstico temprano de esta entidad son factores determinantes en el pronóstico.


Down syndrome predisposes to haematological disorders. It is estimated that 5-30% of neonates with this condition will develop transient abnormal myelopoiesis. Treatment is not standardized; exchange transfusion and the use of cytarabine could be effective. We present two clinical cases of patients with Down syndrome, who during the neonatal period showed acute myeloid leukemia and transient abnormal myelopoiesis, the treatments used and their outcomes. Suspicion and early diagnosis of this entity are considered determining factors in prognosis.


Subject(s)
Humans , Male , Female , Infant, Newborn , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/diagnosis , Down Syndrome/complications , Down Syndrome/diagnosis , Leukemoid Reaction/diagnosis , Leukemoid Reaction/etiology , Leukemoid Reaction/therapy , Myeloproliferative Disorders/complications , Myeloproliferative Disorders/diagnosis
2.
Niger. J. Dent. Res. (Online) ; 7(1): 1-9, 2022. figures, tables
Article in English | AIM, AIM | ID: biblio-1354981

ABSTRACT

Background: The assessment of skeletal maturity is important in the timing of orthodontic treatment especially in the modification of dento-facial growth. The use of cervical vertebrae as a method of assessment of skeletal maturity has rarely been used among Down Syndrome. Objective: To assess skeletal maturity among individuals with Down Syndrome using the cervical vertebrae maturation stages. Methods: The study was conducted among 21 Down Syndrome with mean ages of 11.70  1.83 years (males) and 13.64  1.75 years (female); and 21 control individuals with mean ages of 12.00  2.00 years (male), and 13.50  1.90 years (female). The independent t-test and chi-square test were used to determine significant differences among the continuous (age) and categorical variables (cervical vertebrae maturation stages) respectively when matched with gender and chronological age. Fischer exact test was used when an expected frequency presentation was <5. A p-value of < 0.05 was set as statistically significant. Results: Down Syndrome males had delayed maturation at 11 years but accelerated at 12 with early attainment of maturity at 15 years. Down Syndrome female had a delay tendency in skeletal maturation from 11­15 years of age. Overall, Down Syndrome had a 1.242 probability of either having a delay or advancement in skeletal maturation which was not statistically significant. Conclusively, the skeletal maturation pattern between Down syndrome patients and normal individuals was not statistically different. Conclusion: The average timing for commencement of orthodontic treatment especially growth modification for normal individuals can be applied for individuals with Down Syndrome as this present study did not show any statistically significant difference in their overall skeletal maturation.


Subject(s)
Humans , Male , Female , Orthodontics , Age Determination by Skeleton , Cervical Vertebrae , Down Syndrome
3.
São Paulo; s.n; 2022. 73 p.
Thesis in Portuguese | LILACS | ID: biblio-1361891

ABSTRACT

Introdução. A síndrome de Down (SD), também denominada trissomia 21 (T21), é a cromossomopatia mais frequentemente associada à deficiência intelectual. A informação sobre as potencialidades e dificuldades funcionais das crianças com T21 pode auxiliar pais, terapeutas, gestores da saúde e educadores, favorecendo serviços de apoio à saúde e educação dessa população. Objetivo. Avaliar as habilidades funcionais e a assistência prestada pelos pais de crianças e adolescentes com T21 em idade escolar e explorar a eventual influência de algumas características socioambientais. Método. Estudo observacional, analítico, transversal com amostra de conveniência composta por 44 crianças em idade escolar e adolescentes, parte de um estudo anterior, cujos dados foram coletados através da aplicação do Inventário de Avaliação Pediátrica de Incapacidades (PEDI) e respondidos pelos pais de crianças e adolescentes com T21 que aceitaram participar do estudo, após terem assinado o termo de consentimento livre e esclarecido. Resultados. 45,5% eram crianças e adolescente com idade entre 7 anos e 7 meses a 12 anos e 54,5% entre 12 anos e 1 mês a 19 anos e 6 meses, predominando o sexo masculino (63,5%). 36,6% tiveram diagnóstico de cardiopatia congênita, 93,0% frequentavam escolas. Dos cuidadores 47,6% tinham apenas o primeiro grau incompleto. Quanto ao acompanhamento terapêutico algumas crianças e adolescentes ainda recebiam cuidados: por fisioterapeutas (9,1%), por fonoaudiólogos (31,8%) e por terapeutas ocupacionais (13,6%). Observou-se diferença estatisticamente significante (p<0,005) no domínio função social e o grau de assistência prestado pelo cuidador no mesmo. As demais relações entre o grau de desempenho da criança e o grau de atenção que o cuidador presta nos demais domínios não evidenciaram diferenças estatisticamente significantes. Quanto às outras variáveis apenas idade e frequência à escola da criança e do adolescente, bem como, receber assistência de Fisioterapia e Fonoaudiologia mostraram discrepâncias entre desempenho e o grau de cuidado prestado, de maneira significante estatisticamente no que se refere ao domínio de autocuidado e função social. Conclusão. A interpretação desses resultados revela haver um descompasso no domínio função social entre o desempenho das crianças e adolescentes e o grau de assistência prestada pelos cuidadores, que parece ser excessiva em relação às necessidades destas crianças e adolescentes. Com relação a outras variáveis apenas idade, frequência à escola e os cuidados de Fisioterapia e Fonoaudiologia mostraram que podem influenciar positiva ou negativamente o desempenho da criança e do adolescente e a relação entre estes e o cuidador, particularmente nos domínios de autocuidado e função social.


Background. Down syndrome (DS), also called trisomy 21 (T21), is the most common chromosomal disorders associated with intellectual disability. Information about the potential and functional difficulties of children with T21 can help parents, therapists, health managers and educators, favoring health support services and education for this population. Objective. Evaluate the functional abilities and the care provided by parents of school-age children and adolescents with T21 and explore the possible influence of some socio-environmental characteristics. Method. Observational, analytical, cross-sectional study with a convenience sample of 44 school-age children and adolescents, part of a previous study, whose data were collected through the application of the Pediatric Evaluation of Disability Inventory (PEDI) and answered by the parents of children and adolescents with T21 who agreed to participate in the study, after signing the informed consent form. Results. 45.5% were children and adolescents aged between 07 years old and 07 months to 12 years old, and 54.5% between 12 years old and 01 month to 19 years old and 06 months, predominantly male (63.5%). 36.6% were diagnosed with congenital heart disease, 93.0% attended schools. As per the caregivers, 47.6% had only an incomplete elementary school. As for therapeutic follow-up, some children and adolescents still receiving care: by physical therapists (9.1%), by speech therapists (31.8%) and by occupational therapists (13.6%). There was a statistically significant difference (p<0.005) in the social function domain and the degree of care assistance provided by the caregiver. The other relationships between the child's level of performance and the level of attention the caregiver pays in the different domains did not show statistically significant differences. As for the other variables, only the age and school attendance of the child and the adolescent, as well as the ones receiving physical therapy and speech therapy assistance, showed discrepancies between performance and the degree of care provided, in a statistically significant way concerning the domain of selfcare and social function. Conclusion. The interpretation of these results reveals a mismatch in the social function domain between the performance of the children and the adolescents and the degree of assistance provided by caregivers, which seems to be excessive to the needs of these children and adolescents. Regarding the other variables, only the age, the school attendance, and the Physical Therapy and Speech Therapy care showed that they can positively or negatively influence the performance of the child and the adolescent and the relationship between them and the caregiver, particularly in the domains of self-care and social function.


Subject(s)
Child , Adolescent , Trisomy , Public Health , Caregivers , Down Syndrome , Functional Status , Child Health , Adolescent Health
4.
Rev. ADM ; 78(4): 189-194, jul.-ago. 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1292408

ABSTRACT

Introducción: La salud oral en pacientes con síndrome de Down (SD) es un reto, ya que las alteraciones en la motricidad ocasionadas por la discapacidad intelectual (DI) hacen que tareas como la remoción del biofilm oral o placa dentobacteriana (PDB) con el cepillado sea deficiente. La efectividad de los cepillos eléctricos (CE) comparada con los manuales (CM) en afectados con SD sigue siendo un tema debatible ya que no se ha encontrado una homogeneidad de resultados. Es conveniente mayor investigación sobre el tema, debido a que el SD es considerada la alteración cromosómica más frecuente y la causa principal de DI en el mundo. Objetivo: Conocer la efectividad del CE en comparación con el CM para la remoción de PDB en pacientes mexicanos con SD de entre seis y 14 años. Material y métodos: Estudio transversal experimental, con emparejamiento de sujetos con SD de ambos géneros según la edad (seis a 14 años), asignando el cepillo a utilizar (grupo 1 CM o grupo 2 CE). Se realizó educación dental y método de cepillado con la técnica de Fones, así como control de PDB antes y después el efectuado por medio del índice de O'Leary durante tres días. Se analizaron los resultados utilizando estadística descriptiva e inferencial (prueba de normalidad Lilliefors, prueba t para variables independientes y dependientes). Se aceptó un análisis de significancia p < 0.05. Resultados: La utilización de la t para muestras independientes presentó una mejoría en incremento de dicho marcador de O'Leary en el conjunto total en los tres días de seguimiento respectivamente (t = 6.9, p < 0.00002; t = 8.4, p < 0.00000; y t = 9.5, p < 0.00000). Al comparar por prueba t aplicada a muestras dependientes el índice de O'Leary basal versus cada una de las evaluaciones de seguimiento también se observaron diferencias significativas en los dos conjuntos (grupo 1: p = 0.003, p = 0.0006 y p = 0.0017; grupo 2: p = 0.007, p = 0.0006 y p = 0.0002). Conclusión: La instrucción dental y motivación del paciente fueron determinantes hacia el buen desempeño del cepillado de los dientes y remoción de placa en el par de colectivos, es decir, la reafirmación de la técnica de Fones incrementa gradualmente la mejoría de la forma de uso del cepillo en niños con SD. Ambos métodos con CM y con CE fueron efectivos a fin de remover significativamente la placa, observándose una mayor mejoría en el grupo con CE, sugiriendo que éste disminuye la dificultad de la higiene bucal en personas con SD. Esta línea de investigación es importante en el beneficio de la condición oral de esta población (AU)


Introduction: Oral health in patients having Down syndrome (DS) is a challenge since the changes in motor skills caused by intellectual disability (ID) deteriorate tasks such as the removal of biofilm or dental plaque (DP) with brushing. The effectiveness of electric toothbrushes (ET) compared to manual toothbrushes (MT) in DS patients remains debatable since no homogeneity of results has been found. Further research on the subject is advisable as DS is considered the most frequent chromosomal alteration and the leading cause of ID in the world. Objective: To know the effectiveness of the ET in contrast to the MT for the removal of DP in Mexican DS patients between six and 14 years old. Material and methods: Experimental cross-sectional study, with the pairing of DS subjects of both genders according to age (six to 14 years), assigning the brush to be used (group 1 MT or group 2 ET). Dental education and brushing were performed employing the Fones technique and DP control before and after brushing employing the O'Leary index for three days. The results were analyzed using descriptive and inferential statistics (Lilliefors normality test, t-test for independent and dependent variables). A significance test p < 0.05 was accepted. Results: The t-test for independent samples showed an improvement in the increase of the O'Leary index in the complete group in the three days of follow-up respectively (t = 6.9, p < 0.00002; t = 8.4, p < 0.00000; and t = 9.5, p < 0.00000). When comparing by t-test for dependent samples the baseline O'Leary index versus each of the follow-up evaluations, significant differences were also observed in both groups (group 1: p = 0.003, p = 0.0006 and p = 0.0017; group 2: p = 0.007, p = 0.0006 and p = 0.0002). Conclusion: The dental education and motivation of the patient were decisive for the good performance of tooth brushing and removal of the plaque in both groups. The reaffirmation of the Fones technique gradually increases the improvement of the brushing technique in DS children. Both brushings using MT and ET were effective in removing the biofilm significantly. However, a greater improvement was observed in the group with ET, suggesting that it reduces their difficulty with tooth brushing. This line of research is important to benefit the oral condition of this population (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Toothbrushing , Dental Plaque Index , Down Syndrome , Dental Care for Disabled , Oral Hygiene , Effectiveness , Health Education, Dental , Cross-Sectional Studies , Statistical Analysis , Biofilms , Motor Skills
5.
J. Hum. Growth Dev. (Impr.) ; 31(2): 247-256, May-Aug. 2021.
Article in English | LILACS, INDEXPSI | ID: biblio-1340084

ABSTRACT

INTRODUCTION: Down syndrome individuals have different gait patterns, which include specific characteristics such as foot rotation asymmetryOBJECTIVE: The aim of this study was to analyze the relationship between this asymmetry and the hands-and-knees crawling pattern before gait acquisition in Down syndrome children, as well as the possible association of this gait to gender, ethnicity, comorbidities, physiotherapy, and occupational therapy interventionsMETHODS: In this cross-sectional study, 361 children with or without foot rotation asymmetry were selected. An online questionnaire was administered to the parents or guardians of those childrenRESULTS: Hands-and-knees crawling decreased the prevalence of foot rotation asymmetry in Down syndrome children. The longer it took for walking onset, the higher the prevalence of this asymmetry. Indeed, for each month of delay, there was a 7% increase in prevalence. There was a significant relationship between orthopedic alterations in knees or flat feet and foot rotation asymmetry. There was no significance related to gender, ethnicity, other comorbidities, physiotherapy, or occupational therapy interventionsCONCLUSION: The findings in this study revealed that foot rotation asymmetry might be related to the acquisition of motor skills, hands-and-knees crawling and the walking onset


INTRODUÇÃO: As pessoas com síndrome de Down (SD) apresentam diferentes padrões de marcha, incluindo algumas características específicas como a marcha de base alargadaOBJETIVO: O objetivo deste estudo foi analisar a relação entre a marcha de base alargada e a aquisição motora engatinhar em quatro apoios adquiridas antes da marcha em crianças com SD, bem como a provável associação desta marcha com gênero, etnia, comorbidades e tratamentos de fisioterapia e terapia ocupacionalMÉTODO: Neste estudo transversal, foram selecionados 361 indivíduos que apresentaram ou não marcha de base alargada. Um questionário on-line foi administrado para pais / responsáveis destas criançasRESULTADOS: O engatinhar em quatro apoios diminuiu a prevalência da marcha de base alargada em crianças com SD. Quanto maior o tempo em meses para os primeiros-passos, maior a prevalência de base alargada, sendo que, a cada mês de atraso, a prevalência aumenta em 7%. Foi observada significância entre as alterações ortopédicas em joelhos e pés planos e a marcha de base alargada. Não foi encontrada significância relacionada a gênero, etnia, outras comorbidades, fisioterapia ou terapia ocupacionalCONCLUSÃO: Os achados deste estudo mostraram que o aparecimento da base alargada pode estar relacionado às aquisições motoras, engatinhar em quatro apoios, e aos primeiros passos


Subject(s)
Humans , Male , Female , Posture , Cross-Sectional Studies , Down Syndrome , Locomotion , Motor Skills
6.
Ciênc. Saúde Colet ; 26(8): 3019-3030, ago. 2021. tab, graf
Article in Portuguese | LILACS | ID: biblio-1285958

ABSTRACT

Resumo A autonomia é um processo que nos capacita a compreender e agir sobre nós mesmos e sobre o ambiente. Na adolescência, transformações resultam no desenvolvimento da autonomia. Adolescentes com Síndrome de Down (ASD) têm limitações percepto-cognitivas e poucas oportunidades para aquisição de autonomia. Analisamos o desenvolvimento da autonomia em um grupo terapêutico de Terapia Ocupacional, com díades de ASD e seus principais cuidadores. A análise dos materiais documentais produzidos no processo terapêutico apontou quatro categorias de análise: autopercepção, percepção do outro, vivência compartilhada e mudança de atitude. Os resultados mostram relações simbióticas entre a díade, que dificultam o processo de individuação e limitam as oportunidades para realização das atividades de modo independente. O processo terapêutico baseado na pedagogia freiriana mobilizou de uma consciência ingênua para crítica, acarretando mudanças nas atitudes dos cuidadores em relação à identificação de potenciais e aceitação de limitações próprias e do ASD cuidado. Essa simbiose dificulta o processo de individuação e o acesso a experiências necessárias para o desenvolvimento de autonomia. O processo terapêutico pode modificar as atitudes dos cuidadores e propiciar continuidade do desenvolvimento e autonomia.


Abstract Autonomy is a process that enables us to understand and act on the environment and on ourselves. During adolescence, transformations result in the development of autonomy. Adolescents with Down syndrome (ADS) have perceptual-cognitive limitations and few opportunities to acquire autonomy. The development of autonomy in an occupational therapy group, with dyads of ADS and their main caregivers was analyzed. The evaluation of the materials produced in the therapeutic process pointed to four categories of analysis: self-perception, perception of the other, shared experience and change of attitude. The results show symbiotic relationships between the dyad, which hamper the individuation process and limit the opportunities to carry out activities independently. The therapeutic process based on Paulo Freire's pedagogy raised the level from an ingenuous to a critical awareness, resulting in changes in the attitudes of caregivers in relation to the identification of potential and acceptance of their own limitations and the ADS under care. This symbiosis complicates the individuation process and the access to experiences necessary for the development of autonomy. The therapeutic process can modify the attitudes of caregivers and foster continuity in development and autonomy.


Subject(s)
Humans , Adolescent , Down Syndrome , Caregivers
8.
Rev. cuba. med. gen. integr ; 37(2): e2010, 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1352014

ABSTRACT

Introducción: Este estudio desarrolla una propuesta metodológica de inclusión de tres niños con síndrome Down en colegios de educación inicial Regular, Perú; cuyo proceso se desarrolló atendiendo a las inteligencias múltiples. Objetivo: Diseñar una estrategia didáctica que responda a la diversidad a fin de potenciar las inteligencias múltiples de niños del nivel de educación inicial. Métodos: Fue una investigación cuantitativa: diseño preexperimental y cualitativo. Se aplicó el test sobre inteligencias múltiples, cuyos resultados permitieron diversificar las estrategias metodológicas y la evaluación de los aprendizajes. Conclusiones: Los niños con síndrome de Down desarrollan formas de pensamiento lógico, creativo, demuestran poseer una memoria y buen nivel de socialización. Se logró mejoras significativas en el 58 porciento de las inteligencias múltiples de los niños participantes en el estudio(AU)


Introduction: This study develops a methodological proposal of inclusion of three children with Down syndrome in regular initial education schools, whose process was developed according to multiple intelligences. Methods: It was a quantitative research: pre-experimental and qualitative design. The test was applied on multiple intelligences, whose results allowed to diversify the methodological strategies and the evaluation of the learning. Conclusions: Children with Down syndrome develop logical, creative thinking, demonstrate a memory and a good level of socialization. Significant improvements were achieved in 58 percent of the children's multiple intelligences(AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Down Syndrome , Down Syndrome/epidemiology , Evaluation Studies as Topic , Peru
9.
Rev. cuba. med. gen. integr ; 37(2): e1369, 2021. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1352007

ABSTRACT

Introducción: Las enfermedades genéticas se corresponden con variaciones genéticas del desarrollo que precisan ayuda médica, educativa, social o combinaciones de estas. Objetivo: Caracterizar clínica y epidemiológicamente a los pacientes con enfermedades genéticas. Método: Estudio descriptivo transversal. El universo estuvo constituido por los 521 pacientes evaluados en la consulta de asesoramiento genético del municipio Mayarí y la muestra estuvo representada por los 216 pacientes portadores de enfermedades genéticas pertenecientes al Policlínico Universitario 26 de Julio; del Área de Salud de Mayarí, durante el año 2018. Resultados: Predominó el sexo femenino (53,24 por ciento), el grupo de edades de 41 a 50 años (18,06 por ciento), las enfermedades monogénicas (58,8 por ciento), los pacientes con síndrome de Down (20,37 por ciento), los pacientes que no cuentan con antecedentes familiares (54,63por ciento). Conclusiones: Prevalecieron los pacientes con discapacidad mental, con diagnóstico posnatal y con más de 20 años de diagnóstico. El mayor número no realizaba tratamiento. Los pacientes vinculados integralmente a la sociedad resultaron minoría, así como los que tenían antecedentes familiares de enfermedad genética(AU)


Introduction: Genetic diseases are due to developmental genetic variations that require medical, educational and social help, or combinations of these. Objective: To characterize, clinically and epidemiologically, patients with genetic diseases. Method: Descriptive and cross-sectional study. The universe was made up of the 521 patients assessed in the genetic counseling consultation of Mayarí Municipality and the sample was represented by the 216 patients with genetic diseases belonging to 26 de Julio University Polyclinic of the health area of Mayarí, during the year 2018. Results: The female sex predominated (53.24 percent), together with the age group 41-50 years (18.06 percent), monogenic diseases (58.8 percent), patients with Down syndrome (20.37 percent), and patients with no family history of diseases (54.63 percent). Conclusions: Patients with mental disabilities, with postnatal diagnosis and with more than twenty years of diagnosis prevailed. The largest number did not undergo treatment. Patients fully linked to society were a minority, as well as those with a family history of genetic disease(AU)


Subject(s)
Humans , Male , Female , Down Syndrome/genetics , Genetic Diseases, Inborn , Intellectual Disability/epidemiology , Epidemiology, Descriptive , Cross-Sectional Studies
10.
Rev. medica electron ; 43(3): 750-769, 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1289816

ABSTRACT

RESUMEN El síndrome de Down con frecuencia se acompaña de defectos bucodentales que comprometen la función masticatoria y fonatoria del paciente. Las acciones de prevención y promoción de salud bucal, el diagnóstico precoz y seguimiento de estas enfermedades, contribuyen al logro del verdadero enfoque interdisciplinario que demandan estos pacientes, para lograr una plena inclusión social. Se realizó una búsqueda bibliográfica sobre el tema, con el objetivo de estructurar los referentes teóricos relacionados con los principales defectos bucodentales -congénitos y adquiridos- que afectan a la población con síndrome de Down, para lograr la prevención de estos defectos y el incremento de la calidad de vida de los pacientes. Los defectos bucodentales congénitos más frecuentes encontrados en la trisomía 21, fueron la microdoncia, la macroglosia y la erupción dental tardía. La enfermedad periodontal fue el defecto adquirido de mayor presentación, al que se asocian diversos factores de riesgo, muchos modificables. Las intervenciones tempranas en salud bucal pueden incrementar la calidad de vida de los niños y adultos que padecen este trastorno, ayudándolos a lograr un pleno desarrollo como seres humanos (AU).


ABSTRACT Down's syndrome is frequently accompanied by oral-dental defects compromising the masticatory and phonatory function of the patients. Oral health promotion and prevention actions, precocious diagnosis and follow-up of these diseases contribute to achieving the true interdisciplinary approach these patients demand to reach their full social inclusion. A bibliographic search on the theme was carried out, with the objective of structuring the theoretical referents related to the main oral-dental defects -congenital and acquired-, affecting the population with Down's syndrome to reach these defects prevention and increasing these patients' life quality. The congenital oral-dental defects more commonly found in trisomy 21 were microdontia, macroglossia, and delayed tooth eruption. Periodontal disease was more frequently found acquired defect, to which several risk factors are associated, many of them modifiable. Early interventions in oral health may improve the life quality of these children and adults, helping them to achieve a full development as human beings (AU).


Subject(s)
Humans , Male , Female , Tooth Diseases/congenital , Down Syndrome/pathology , Mouth Diseases/congenital , Tooth Diseases/diagnosis , Tooth Diseases/therapy , Oral Health , Mouth Diseases/diagnosis , Mouth Diseases/therapy , Dental Physiological Phenomena
11.
Medicina (B.Aires) ; 81(3): 367-374, jun. 2021. graf
Article in Spanish | LILACS | ID: biblio-1346471

ABSTRACT

Resumen La parálisis cerebral y el síndrome de Down son dos afecciones que cursan con déficit del desarrollo motor. Este retraso mejora con el uso de cinta rodante. Se realizó una revisión sistemática en dife rentes bases de datos con el propósito de analizar estudios y s u calidad metodológica en relación a la aplicación del uso exclusivo de cinta rodante y su combinación con otras terapias para fomentar la marcha y equilibrio en niños menores de 12 años con parálisis cerebral y síndrome de Down. Se seleccionaron únicamente ensayos clínicos aleatorizados publicados hasta la fecha en PubMed, PEDro, Cochrane y Science Direct. La calidad me todológica de los estudios identificados se evaluó a través de la escala PEDro. De los 324 artículos inicialmente encontrados, se seleccionaron los 10 que cumplieron con los criterios de inclusión establecidos para su análisis cualitativo. Las variables analizadas fueron la marcha y el equilibrio en ambas poblaciones tras la intervención con cinta rodante, con y sin suspensión del peso corporal. Concluimos que la aplicación de cinta rodante como única herramienta terapéutica resulta una intervención eficaz para favorecer el desarrollo de la marcha y el equilibrio en niños de 0 a12 años con parálisis cerebral y síndrome de Down.


Abstract Cerebral palsy and Down syndrome are two conditions that present with a deficit in motor development. Treadmill interventions were found to improve this delay in development. This work aimed to describe and analyze the methodological quality of studies that applied treadmill interventions alone or combined with other therapies to promote gait and balance in children under 12 years of age with cerebral palsy and Down syndrome. A systematic review was made in different databases: PubMed, PEDro, Cochrane and Science Direct. Only randomized clinical trials published to date were selected. The methodological quality of the identified studies was assessed using the PEDro scale. Of the 324 articles initially found, 10 were selected, which met the established inclusion criteria for qualitative analysis. The variables analyzed were gait and bal ance in both populations after the treadmill intervention, with and without suspension of body weight. The main conclusion was that the application of a treadmill alone is an effective intervention to promote the development of gait and balance in children under 12 years with cerebral palsy and Down syndrome.


Subject(s)
Humans , Child , Cerebral Palsy , Down Syndrome/therapy , Body Weight , Exercise Test , Exercise Therapy , Gait
12.
Arch. argent. pediatr ; 119(5): e504-e507, oct. 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1292674

ABSTRACT

El colesteatoma adquirido en niños es una enfermedad agresiva debido a su rápido crecimiento y la alta tasa de recurrencia. Las complicaciones se dividen en dos grandes grupos: las relacionadas con el hueso temporal (dentro o fuera de él) y las complicaciones intracraneales. El absceso subperióstico es la complicación extratemporal más común y es más frecuente en los niños más pequeños. Los pacientes que padecen síndrome de Down tienen una prevalencia elevada (superior al 80 %) de otitis media con efusión, que puede estar determinada anatómicamente por la hipoplasia mediofacial con una nasofaringe estrecha y adenoides hipertrófica, junto a trastornos funcionales y mecánicos de la trompa auditiva. Se presenta un niño de 8 años con síndrome de Down que desarrolló un absceso subperióstico como complicación de un colesteatoma que requirió abordaje quirúrgico inmediato para su resolución.


Acquired cholesteatoma in children is an aggressive disease due to its rapid growth and high recurrence rate. The complications are divided into intra-and extratemporal complications or intracranial complication. Subperiosteal abscess is the most common extratemporal complication. It is most frequent in young children. However, there are also other associated complications described in the literature. Down syndrome patients have anatomical and functional predisposing factors that contribute to chronic cholesteatomatous otitis media. The prevalence is greater than 80 %. In this report, we present a case of subperiosteal abscess in an 8-year-old child with Down's syndrome. This abscess presented as a complication of an extended cholesteatoma and required inmediate surgery for resolution.


Subject(s)
Humans , Male , Child , Cholesteatoma , Down Syndrome/complications
13.
Diaeta (B. Aires) ; 39(174): 39-44, mayo 2021. graf
Article in Spanish | LILACS, BINACIS, UNISALUD | ID: biblio-1339813

ABSTRACT

Introducción: se ha reportado una alta prevalencia de malnutrición por exceso en pacientes con Síndrome de Down (SD), tanto en niños, como en adolescentes y adultos. Evaluar correctamente el gasto energético basal (GEB) en estos pacientes, es un aspecto crítico del control de peso, que ha sido escasamente explorado. Objetivo: evaluar el estado nutricional y el GEB mediante calorimetría indirecta y dos ecuaciones predictivas, en pacientes con SD de Concepción, Chile. Materiales y método: estudio descriptivo y transversal en 6 pacientes con SD: 2 niños y 4 mujeres adultas. Se midieron el peso y la talla y se calcularon el índice peso/edad (niños) y el índice de masa corporal (adultos). La determinación del GEB, se realizó mediante calorimetría indirecta y utilizando dos ecuaciones predictivas: Harris & Benedict y FAO/OMS (1985). Los resultados se expresaron como medianas y rangos, y la comparación de los valores del GEB, se realizó a través de la prueba de Wilcoxon (α= 0,05). Resultados: se encontró que el 50% de los pacientes presentó sobrepeso. No se encontraron diferencias estadísticamente significativas entre el GEB calculado por las ecuaciones predictivas, y el obtenido por calorimetría indirecta. Conclusión: en el grupo de pacientes con SD evaluados, se podría estimar la GEB a través de las ecuaciones predictivas (Harris & Benedict y FAO/OMS, 1985), dada su concordancia con los valores obtenidos por calorimetría indirecta, lo que puede ser muy útil en la práctica clínica, permitiendo la elaboración de planes de alimentación adecuados para estos pacientes(AU)


Introduction: a high prevalence of malnutrition due to overweight and obesity has been reported in patients with Down Syndrome (DS), in children, adolescents and adults. A correct evaluation of the basal energy expenditure (BEE) in these patients is a critical aspect of weight control; however, this aspect has not been thoroughly studied. Objective: to evaluate the nutritional status and BEE using indirect calorimetry and two predictive equations in patients with DS from Concepción, Chile. Materials and methods: a descriptive and cross-sectional study was carried out in 6 patients with DS: 2 boys and 4 adult women. Weight and height were measured, and the weight/age index (children) and the body mass index (adults) were calculated. The determination of the BEE was carried out by indirect calorimetry and using two predictive equations: Harris & Benedict and FAO/WHO (1985). The results were expressed as means, standard deviations, medians and ranges, and the comparison of the BEE values was performed using the Wilcoxon test (α = 0.05). Results: 50% of the patients were overweight. No statistically significant differences were found between the BEE calculated by the predictive equations, and that obtained by indirect calorimetry. Conclusion: In the group of patients with DS evaluated, BEE could be estimated through the predictive equations (Harris & Benedict and FAO/ WHO, 1985), given its agreement with the values obtained by indirect calorimetry, which can be very useful in clinical practice, allowing the elaboration of adequate feeding plans for these patients(AU)


Subject(s)
Down Syndrome , Malnutrition , Basal Metabolism , Nutritional Status , Energy Metabolism
15.
Gac. méd. Méx ; 157(2): 140-146, mar.-abr. 2021. tab
Article in Spanish | LILACS | ID: biblio-1279093

ABSTRACT

Resumen Introducción: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. Objetivo: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. Método: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). Resultados: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). Conclusiones: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.


Abstract Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: Case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and FHTD (cases) were compared with those of 183 DS newborns without FHTD (reference group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Results: Nine newborns with DS in our sample had CH (4.1 %). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Conclusions: FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.


Subject(s)
Humans , Male , Female , Infant, Newborn , Thyroid Diseases/genetics , Family Health , Down Syndrome/complications , Congenital Hypothyroidism/etiology , Thyroid Function Tests/statistics & numerical data , Sex Factors , Epidemiologic Methods , Congenital Hypothyroidism/epidemiology
16.
Rev. cuba. med. gen. integr ; 37(1): e1102, tab
Article in Spanish | LILACS, CUMED | ID: biblio-1280310

ABSTRACT

Introducción: Los niños con síndrome de Down presentan una comorbilidad alta, por lo que se hace necesario mantener un adiestramiento a los médicos de familia para el control y prevención de estas enfermedades. Objetivo: Evaluar un curso de capacitación a médicos de familia sobre los cuidados biopsicosociales a niños con síndrome de Down. Métodos: Se realizó un cuasi experimento a través de un diseño antes-después con un grupo estudio y otro grupo control. En una primera etapa o pretest se aplicó un cuestionario a ambos grupos, después se impartió el curso de capacitación al grupo estudio y en la última etapa o postest se volvió a emplear el mismo cuestionario a los dos grupos y determinar el nivel de conocimiento alcanzado. Resultados: Antes del curso de capacitación, 7 (26,9 por ciento) de médicos de familia del grupo estudio obtuvieron calificación de aceptable; después de recibir el curso aumentó a 22 (84,6 por ciento). La diferencia estándar y la media fue superior en el grupo estudio en relación al grupo control. Conclusiones: Con el curso de capacitación diseñado y aplicado a médicos de familia aumentaron los conocimientos sobre los cuidados biopsicosociales a los niños con síndrome de Down(AU)


Introduction: Children with Down syndrome present high comorbidity, a reason why it is necessary to maintain training for family doctors for the control and prevention of such conditions. Objective: To assess a training course targeted at family doctors about biopsychosocial care for children with Down syndrome. Methods: A quasiexperimental study was carried out using a before-after design with a study group and a control group. In a first stage, or pretest, a questionnaire was applied to both groups. Afterwards, the training course was given to the study group. In the last stage, or post-test, the same questionnaire was used again for the two groups, after which the level of knowledge reached was determined. Results: Before receiving the training course, 7 (26.9 percent) family doctors in the study group obtained an acceptable rating. After receiving the course, it increased to 22 (84.6 percent). The mean and standard difference was higher in the study group compared to the control group. Conclusions: With the training course designed and given to family doctors, the knowledge about biopsychosocial care for children with Down syndrome increased(AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Physicians, Family/education , Down Syndrome/epidemiology , Training Courses
17.
Int. j. med. surg. sci. (Print) ; 8(1): 1-10, mar. 2021.
Article in Spanish | LILACS | ID: biblio-1151623

ABSTRACT

La alimentación es un acto complejo que requiere integración entre los sistemas nerviosos central y periférico, las estructuras gastrointestinales, cardiopulmonares, mecanismo velofaríngeo, estructuras craneofaciales y musculoesqueléticas. Para que se convierta en un acto placentero para el niño, dependerá de las experiencias sensoriales vividas o aprendidas en los primeros meses de vida y de la interacción con el entorno y sus cuidadores. Por ello, es de extrema importancia el amamantamiento exclusivo durante los primeros seis meses y su complementación hasta los dos años de vida del niño, para que pueda transitar los períodos de cambios en la dieta sin traumas ni estrés. Cualquier interrupción en este proceso puede llevar a una pérdida en la introducción y desarrollo de la nutrición, generando una dificultad alimentaria (AD). Esta se define como cualquier problema que puede influir negativamente en la forma en que los padres y los cuidadores proporcionan alimentos al niño, y sus probables consecuencias son alteración en el desarrollo general, oral, motriz, sensorial y psicosocial, dependiendo de la gravedad del caso. El fonoaudiólogo puede intervenir mediante enfoques amplios e integradores, con el fin de lograr una alimentación más segura y eficaz, estimulando el sistema sensorial motor oral, mejorando la masticación y promoviendo una mayor coordinación entre las funciones de succión, respiración y deglución. Los niños con síndrome de Down, al poseer una determinada condición genética, presentan algunas características clínicas como la protrusión lingual, alteraciones en la deglución, disminución del tono muscular, reflujo gastroesofágico, intolerancia alimentaria, mala absorción intestinal, paladar ojival, coordinación motora deficiente y otros factores que pueden causar un retraso en el desarrollo del sistema estomatognático, facilitando la aparición de dificultades en la alimentación. Sabiendo que la nutrición es un factor importante para el desarrollo saludable del niño, el objetivo de este estudio es presentar los datos disponibles en la literatura sobre las dificultades de alimentación en los niños con síndrome de Down.


Feeding is a complex act that requires integration between the central and peripheral nervous systems, gastrointestinal and cardiopulmonary process, velopharyngeal mechanism, craniofacial and musculoskeletal structures. To become a pleasurable act for the child, it will depend on the sensory experiences lived or learned in the first months of life and the interaction with the environment and its caregivers. therefore, exclusive breastfeeding in the first six months and supplementation until the baby's two years is extremely important to the child can go through periods of dietary changes without trauma and stress. Any interference in this process can generate impairment in the introduction and development of feeding, creating feeding difficulty. This is defined as any problem that can negatively influence how parents and caregivers provide food for the child, and its probable consequences are changes in the overall development, oral motor and psychosocial development, depending on the severity of the case. The speech therapist can intervene through broad and integrative approaches, aiming a safer and more effective diet, through the stimulation of the oral motor sensory system, improving chewing and promoting greater coordination between the suction, breathing and swallowing functions. Children with Down Syndrome, for having a specific genetic condition, have some clinical characteristics such as tongue protrusion, swallowing disorders, decreased muscle tone, gastroesophageal reflux, food intolerance, intestinal malabsorption, ogival palate, impaired motor coordination and other factors that can cause a delay in the development of the stomatognathic system, facilitating the appearance of feeding difficulties. Knowing that nutrition is an important factor for the healthy development of the child, the aim of this study is to present the data available in the literature about feeding difficulties in children with Down Syndrome.


Subject(s)
Humans , Child , Child Nutritional Physiological Phenomena , Down Syndrome/complications , Child Nutrition
18.
Arq. odontol ; 57: 158-165, jan.-dez. 2021. tab
Article in Portuguese | LILACS, BBO | ID: biblio-1343735

ABSTRACT

Objetivo:Identificar o perfil sociodemográfico e a condição de saúde periodontal de indivíduos diagnosticados com Síndrome de Down. Métodos:Trata-se de um estudo epidemiológico transversal envolvendo indivíduos diagnosticadas com Síndrome de Down na cidade de Campina Grande, Paraíba. A coleta dos dados sociodemográficos foi realizada através de um questionário semiestruturado aplicado com os cuidadores. O exame clínico foi realizado em ambiente clínico. A amostra foi do tipo não probabilística, por conveniência (n = 20). Realizou-se a análise estatística descritiva. Para as variáveis categóricas foram calculadas as frequências absolutas e percentuais, para as variáveis quantitativas foram calculadas as medidas de tendência central e de variabilidade. As análises foram realizadas com o auxílio do software IBM SPSS Statistics versão 20.0. Resultados:Observou-se uma paridade entre os indivíduos pesquisados em relação ao sexo, 60% eram de cor branca e a média de idade foi de 24,6 anos (DP = 7,08) e renda familiar de 2,47 salários mínimos (DP = 3,57). A higiene bucal é realizada pelo próprio indivíduo (89,5%), usando rotineiramente escova e pasta (68,4%), duas vezes ao dia (50%). A maior parte dos entrevistados já realizou alguma visita ao dentista (84,2%), mais de 4x (66,7%), há menos de 6 meses (53,3%), somente no setor privado (50,0%), sendo o motivo principal da consulta a prevenção (31,3%). Observou-se que a média do índice de placa foi elevado (89,53%). A média do índice de sangramento à sondagem foi de 39,93% e a média de profundidade de sondagem foi de 2,09 mm. Conclusão:Estudos com grupos de indivíduos com SD, que apresentam atendimento odontológico preventivo contínuo e sistemático, demonstraram uma melhora efetiva da saúde periodontal.


Aim:To recognizethe sociodemographic profile and the periodontal health condition of individuals diagnosed with Down syndrome. Methods:This is a cross-sectional epidemiological study involving individuals diagnosed with Down syndrome in the city of Campina Grande, Paraíba, Brazil. The collection of sociodemographic data was carried out through a semi-structured questionnaire applied to caregivers. The clinical examination was performed in a clinical setting. The sample was non-probabilistic, for convenience (n = 20). Descriptive statistical analysis was performed. For categorical variables, absolute and percentage frequencies were calculated, for quantitative variables, measures of central tendency and variability were calculated. The analyzes were performed with the help of IBM SPSS Statistics software version 20.0. Results: There was a parity among the individuals surveyed in relation to sex, 60% were white, and the average age was 24.6 years (SD = 7.08), with a family income of 2.47 minimum wages (SD = 3.57). Oral hygiene is performed by the individual (89.5%), using a toothbrush and toothpaste (68.4%), twice a day (50%). Most interviewees have already visited the dentist (84.2%), more than 4x (66.7%), less than 6 months ago (53.3%), only in the private sector (50.0%), the main reason for the consultation being prevention (31.3%). It was observed that the average plaque index was high (89.53%). The average bleeding rate on probing was 39.93%, and the average probing depth was 2.09 mm. Conclusion:Studies with groups of individuals with DS who have continuous and systematic preventive dental care have demonstrated an effective improvement in periodontal health dental care, have demonstrated an effective improvement in periodontal health.


Subject(s)
Oral Hygiene , Periodontal Diseases , Health Profile , Oral Health , Down Syndrome , Cross-Sectional Studies
19.
Article in Chinese | WPRIM | ID: wpr-880084

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and treatment effects of children with acute megakaryoblastic leukemia without down syndrome (non-DS-AMKL).@*METHODS@#The clinical data of 19 children with non-DS-AMKL treated in the Pediatric Hematology Ward in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from May 2008 to April 2018 were analyzed retrospectively. The clinical characteristics, laboratory test and treatment methods of the children were concluded. All patients were followed up to evaluate the effect of treatment.@*RESULTS@#The 19 cases of children included nine male and ten female, the median age of onset was 2 years old. The clinical manifestations showed nonspecific. The median white blood cell of peripheral blood was 15.88×10@*CONCLUSION@#Non-DS-AMKL was rare in children and difficult to be diagnosed. Determination of MICM classification as early as possible was helpful for diagnosis, and genetic testing played an important role for diagnosis and prognosis evaluation. Early hematopoietic stem cell transplantation in patients with CR after chemotherapy might be an effective way to cure AMKL.


Subject(s)
Child , Child, Preschool , DEAD-box RNA Helicases , DNA Helicases , Down Syndrome , Female , Humans , Leukemia, Megakaryoblastic, Acute/genetics , Male , Prognosis , Retrospective Studies , Trisomy
20.
Article in Chinese | WPRIM | ID: wpr-879619

ABSTRACT

OBJECTIVE@#To study the correlation between DNA methylation patterns and gene expression in Down syndrome (DS).@*METHODS@#Induced pluripotent stem cells (iPSCs) derived from normal controls and DS patients were subjected to whole genome bisulfite sequencing and differentially methylated region (DMR) screening. Statistical analysis for chromosomal and gene element distribution were carried out for DMR. Gene ontology (GO) and enrichment-based cluster analysis were used to explore the molecular function of differentially expressed genes.@*RESULTS@#A total of 1569 DMR were identified in iPSCs derived from DS patients, for which the proportion of hypermethylation in promoter regions was significantly greater than that of the genebody. No DMR enrichment was noted on chromosome 21. Hypermethylation of the promoter and genebody was predicted to be inhibitory for gene expression. Functional clustering revealed the pathways related to neurodevelopmental, stem cell pluripotency and organ size regulation to be significantly correlated with differentially methylated genes.@*CONCLUSION@#Extensive and stochastic anomalies of genome-wide DNA methylation has been discovered in iPSCs derived from DS patients, for which the pattern and molecular regulation of methylation were significantly different from those of normal controls. Above findings suggested that DNA methylation pattern may play a vital role in both the pathogenesis of neurodevelopmental disorders and other phenotypic abnormalities during early embryonic development.


Subject(s)
DNA Methylation , Down Syndrome/genetics , Female , Humans , Induced Pluripotent Stem Cells , Pregnancy , Promoter Regions, Genetic , Whole Genome Sequencing
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