Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 242
Filter
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.
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
3.
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
4.
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
5.
Arch. endocrinol. metab. (Online) ; 65(5): 562-569, 2021. tab
Article in English | LILACS | ID: biblio-1345194

ABSTRACT

ABSTRACT Objective: People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population. Subjects and methods: A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. Results: The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively). Conclusion: We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Down Syndrome/complications , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Brazil/epidemiology , Autoimmunity , Case-Control Studies
6.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(supl.2): 553-557, 2021. graf
Article in English | LILACS | ID: biblio-1279617

ABSTRACT

Abstract Introduction: although pediatric patients have comparatively fewer cases of COVID-19, children with Down Syndrome exhibit comorbidities such as immunodeficiency, diabetes and, in this perspective, are considered a population at risk for severe COVID-19. In addition, the literature also points to an unfavorable perspective on co-infection with Mycobacterium tuberculosis, considered an important comorbidity and a predictor of a worse clinical outcome. Description: female child, nine years old, with Down Syndrome, congenital heart disease and prematurity, with significant weight loss and intermittent fever for six months. A week ago, she had an intensification of fever, productive cough and mild respiratory distress. RT-PCR for SARS-CoV-2 detectable in nasopharynx swab, chest X-ray with diffuse alveolar infiltrate, chest CT with consolidations, excavation, solid micronodules in a sprouting tree pattern mainly in the right upper and lower lobes. Molecular rapid test for Mycobacterium tuberculosis detectable in gastric lavage. After specific treatment, the patient progressed well and was discharged from the hospital after 72 hours without fever and improvement in her breathing pattern. Discussion: despite the extensive pulmonary involvement, the patient did not require invasive ventilatory support and presented a satisfactory short-term outcome. Therefore, the relevance of the association of Tuberculosis and COVID-19 and other comorbidities in the pediatric age group still remains uncertain.


Resumo Introdução: apesar dos pacientes pediátricos apresentarem, comparativamente, menos casos da COVID-19, crianças com Síndrome de Down manifestam comorbidades como imunodeficiência, diabetes e, nessa perspectiva, são apontadas como população de risco para COVID-19 grave. Ademais, a literatura também sinaliza para um cenário desfavorável na coinfecção com Mycobacterium tuberculosis, considerada comorbidade importante e preditora para pior desfecho clínico. Descrição: criança de nove anos, sexo feminino, com Síndrome de Down, cardiopatia congênita e prematuridade, história de perda ponderal significativa e febre intermitente vespertina há seis meses. Há uma semana, apresentou intensificação da febre, tosse produtiva e desconforto respiratório leve. RT-PCR para SARS-CoV-2 em swab de nasofaringe detectável, radiografia de tórax com infiltrado alveolar difuso, tomografia de tórax com consolidações, focos de escavação, micronódulos sólidos em padrão de árvore em brotamento principalmente em lobos superior e inferior direitos. Teste rápido molecular para Mycobacterium tuberculosis detectável em lavado gástrico. Após início de tratamento específico, a paciente exibiu melhora clínica e de padrão respiratório e recebeu alta hospitalar após 72 horas afebril. Discussão: apesar do extenso comprometimento pulmonar, a paciente não necessitou de suporte ventilatório invasivo e apresentou um desfecho satisfatório em curto prazo. Portanto, a relevância da associação de tuberculose e COVID-19 e outras comorbidades na faixa etária pediátrica ainda permanecem incertas.


Subject(s)
Humans , Female , Child , Tuberculosis, Pulmonary/diagnosis , Comorbidity , Down Syndrome/complications , Coinfection , COVID-19/diagnosis , Mycobacterium tuberculosis , Risk Groups , Brazil/epidemiology
7.
Rev. cuba. pediatr ; 92(3): e677, jul.-set. 2020. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126771

ABSTRACT

Introducción: La malabsorción de glucosa y de galactosa es una enfermedad genética autosómica recesiva debida a una mutación que afecta al cotransportador de sodio-glucosa. Objetivo: Describir una asociación infrecuente entre el síndrome de Down y la mala absorción de glucosa y de galactosa. Presentación del caso: Niño desnutrido de 3 ½ meses de edad con síndrome de Down, de padres consanguíneos. Presentó precozmente diarrea explosiva, vómitos con deshidratación. Se mejoró tras la eliminación de la alimentación oral y la perfusión hidroelectrolítica y empeoró con la utilización de las sales de rehidratación oral y las fórmulas lácteas, sin proteínas de leche de vaca. El estudio de las heces mostró un pH fecal /5, presencia de glucosa, ionograma de las 24 horas fue: sodio 0,5 mEq (1-10), potasio 2,6 mEq (8-22) y el cálculo realizado para distinguir entre diferentes causas de diarrea dio aumentado: 168 mOsm/kg (50-125). Ante este cuadro clínico se consideró el diagnóstico de malabsorción de glucosa y de galactosa sobre todo tras la mejora de la sintomatología bajo dieta exclusivamente azucarada con fructosa. Conclusiones: Es importante tener en cuenta la malabsorción de glucosa y de galactosa dentro de los diagnósticos diferenciales de las diarreas acuosas congénitas. El diagnóstico precoz y la dieta adecuada con fructosa evitan deshidratación y malnutrición. La particularidad de nuestro caso es la asociación de la malabsorción de glucosa y de galactosa con el síndrome de Down, que, según nuestro conocimiento, es la primera vez que se describe y podría aumentar la morbilidad(AU)


Introduction: Malabsorption of glucose and galactose is a genetic autosomic recesive disease caused by a mutation that affects the co-transportator of sodium-glucose. Objective: To describe an unfrequent relation between the Down syndrome and the malabsortion of glucose and galactose. Case presentation: Undernourished child, 3 and half months old with Down syndrome from parents by blood. He early presented explosive diarrhea and vomiting with dehydration. He improved his state after elimination of oral feeding and a hydroelectrolitic perfusion, and his state worsened with the use of oral rehydration salts and dairy formula, even without cow´s milk proteins. The study of feces showed a fecal pH /5, presence of glucose, and the ionogram after 24 hours showed: sodium 0,5mEg (1-10), potasium 2,6 mEg (8-22) and the calculation made to identify the different causes of diarrhea was increased: 168 mOsm/kg (50-125). Having this clinical records, it was considered a diagnostic of glucose and galactose malabsorption, mainly after the improvement of the symptoms under a diet exclusively sugared with fructose. Conclusions: It is important to take into account glucose and galactose malabsortion in the differential diagnosis of congenital watery diahrrea. The early diagnosis and an adequate diet with fructose avoid dehytration and malnutrition. The particularity of this case is the relation of glucose and galactose malabsorption with Down syndrome, that according to our knowledge is the first time it is described and it can increase the morbility(AU)


Subject(s)
Humans , Male , Infant , Down Syndrome/complications , Glucose Intolerance/complications , Malabsorption Syndromes/complications , Galactose/analysis
8.
Rev. Soc. Odontol. La Plata ; 29(57): 25-31, dic. 2019. graf
Article in Spanish | LILACS | ID: biblio-1049947

ABSTRACT

El síndrome de Down (SD) es un trastorno genético que se caracteriza por la presencia de un grado variable de discapacidad cognitiva, rasgos y características físicas peculiares, que también, repercuten a nivel estomatognático. Los autores presentamos un estudio clínico y descriptivo, detallando las características odontológicas y estomatognáticas más prevalentemente diagnosticadas en ochenta (80) pacientes que presentan SD, atendidos durante el lapso de 2 años en el consultorio externo del Hospital Bollini, ubicado en el Instituto Psicopedagógico Especial de la Ciudad de La Plata. Nuestro objetivo fue evaluar las manifestaciones clínico­epidemiológicas del paciente con SD, y cómo estas repercuten en el funcionamiento y estructura del sistema estomatognático


Down syndrome (DS) is a genetic disorder characterized by the presence of a variable degree of cognitive disability, features and peculiar physical characteristics, affecting them at the stomatognathic level. We present a clinical and descriptive study, detailing the dental and stomatognathic characteristics most prevalently diagnosed in 80 eighty patients with SD, treated during a period of 2 years in the outpatient clinic of Hospital Bollini, located in The Special Psycopedagogical Institute of the city of La Plata Our the objetive was evaluate the clinical and epidemiological manifestastations of the patient's of SD, and how these affect functioning and structure of the stomatognatic system


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Tooth Abnormalities , Down Syndrome/complications , Dental Care for Disabled , Down Syndrome
9.
Rev. chil. pediatr ; 90(6): 589-597, dic. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058189

ABSTRACT

INTRODUCCIÓN: La enfermedad celíaca (EC) en niños con síndrome de Down (SD) ha sido publicada por varios paí ses, sin que existan datos para Colombia. OBJETIVO: Determinar la frecuencia y factores relacionados de EC en niños con SD, comparado con un grupo de niños sin SD, analizando las manifestaciones clínicas, inmunológicas y genéticas. PACIENTES Y MÉTODO: Fueron estudiados 209 niños, 1-18 años de edad (8,4 ± 4,1 años; 55,5% sexo femenino): 97 con SD y 112 sin SD usando como marcador serológico los anticuerpos anti-transglutaminasa (tTG2); se estudiaron variables de edad, genero, raza, ori gen, peso, talla y síntomas digestivos. A los niños con tTG2 positivos, se les realizó biopsia duodenal y genotipo. Se estimó la proporción de niños con SD, sin SD y EC y su IC95%; medidas de tendencia central, análisis univariado y bivariado, siendo significativa una p < 0,05. RESULTADOS: Ocho niños con SD (8,2%) y 5 niños sin SD (4,5%) fueron tTG2 positivos (p = 0,200). Ninguno presentó deficiencia de IgA sérica. Un niño con SD presentó EC con Marsh II (1,0%); y 2 niños con SD (2,1%) y 2 sin SD (1,8%), presentaron EC potencial (p = 0,432). Tres niños fueron HLA-DQ2. Hubo mayor opor tunidad de presentar EC en el grupo de pre-escolares (OR = 6,14 IC95% = 0,41-87,35 p = 0,0462). CONCLUSIONES: La frecuencia de EC por biopsia intestinal en estos niños con SD es muy inferior a lo relatado en la literatura, estando asociada al pre-escolar, y siendo su principal alelo el DQ2, hallazgos similares a lo descrito a nivel mundial.


INTRODUCTION: Celiac disease (CD) in children with Down syndrome (DS) has been published by several countries, without available data for Colombia. OBJECTIVE: To determine the frequency and related factors of CD in children with DS, compared with a group of children without DS, analyzing the clinical, im munological, and genetic manifestations. PATIENTS AND METHOD: A total of 209 children between 1-18 years of age (8.4 ± 4.1 years, 55.5% female) were studied, 97 with DS and 112 without DS, using anti-transglutaminase antibodies as serological marker (tTG2). Variables of age, gender, race, ori gin, weight, height, and digestive symptoms were studied. Children with positive tTG2 underwent duodenal biopsy and genotype. The proportion of children with DS, without DS, and CD was esti mated and their 95% CI; measures of central tendency, univariate and bivariate analysis, considering a p < 0.05 significant. RESULTS: Eight children with DS (8.2%) and five children without DS (4.5%) were tTG2 positive (p = 0.200). None presented serum IgA deficiency. One child with DS presented CD with Marsh II (1.0%), and two children with DS (2.1%) and two without DS (1.8%), presen ted potential CD (p = 0.432). Three children were HLA-DQ2. CD was more likely in the preschool group (OR = 6.14 95%CI = 0.41-87.35 p = 0.0462). CONCLUSIONS: The CD frequency due to intestinal biopsy in children with DS is much lower than that reported in the literature, being associated with preschool, and having DQ2 as its main allele. These findings are similar to those described worldwide.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Celiac Disease/complications , Down Syndrome/complications , Celiac Disease/diagnosis , Celiac Disease/epidemiology , Down Syndrome/epidemiology , Colombia/epidemiology
10.
Geriatr., Gerontol. Aging (Impr.) ; 13(2): 111-117, abr-jun.2019.
Article in English | LILACS | ID: biblio-1096823

ABSTRACT

The estimated average survival of people with Down syndrome (DS) is currently over 50 years of age. This demographic finding warrants attention of health professionals who will care for an increasing number of adults with DS. Clinical evaluation of adults with DS should correlate characteristics inherent to the age group, especially the peculiarities produced by the syndrome. The present article proposes the development of preventive and vaccination programs ­ according to gender and age ­ and screening of diseases and conditions associated with the syndrome: 1) endocrine diseases; 2) cardiac diseases; 3) mental health; 4) dental care; 5) sensory organs; 6) osteoarticular abnormalities; 7) skin and appendages; 8) gastrointestinal diseases; and 9) cancer. However, there is scant information on the impact of comorbidities on life expectancy and quality of life or on the social and hospital costs of adults with DS.


A estimativa da sobrevida média de indivíduos com síndrome de Down (SD) passa atualmente dos 50 anos de idade. Esse dado demográfico justifica a atenção de profissionais da saúde que prestarão cuidados a um número crescente de adultos com SD. A avaliação clínica desse grupo de pacientes adultos deve correlacionar características inerentes à faixa etária, principalmente as peculiaridades produzidas pela síndrome. O presente artigo propõe o desenvolvimento de programas de prevenção e vacinação ­ conforme gênero e idade ­ e triagem de doenças e quadros associados à síndrome: 1) doenças endócrinas; 2) doenças cardíacas; 3) saúde mental; 4) saúde bucal; 5) órgãos sensoriais; 6) anomalias osteoarticulares; 7) pele e anexos; 8) doenças gastrointestinais; 9) câncer. Entretanto, há poucas informações sobre o impacto das comorbidades na expectativa de vida e na qualidade de vida, além dos custos hospitalares e sociais de adultos com SD.


Subject(s)
Humans , Quality of Life , Down Syndrome/complications , Down Syndrome/epidemiology , Comprehensive Health Care/trends , Quality-Adjusted Life Expectancy , Primary Prevention , Brazil , Comorbidity , Program Development , Disabled Persons
11.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 41(3): 225-233, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1011501

ABSTRACT

Objective: Alzheimer's disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down's syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS. Methods: Two psychiatrists, working independently, evaluated 92 adults with DS ≥ 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment. Results: The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items. Conclusion: The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.


Subject(s)
Humans , Adult , Down Syndrome/diagnosis , Dementia/diagnosis , Cognitive Dysfunction/diagnosis , Neuropsychological Tests , Translating , Brazil/epidemiology , Epidemiologic Methods , Down Syndrome/complications , Down Syndrome/epidemiology , Dementia/complications , Dementia/epidemiology , Intellectual Disability , Middle Aged
12.
Rev. bras. cir. cardiovasc ; 34(1): 1-7, Jan.-Feb. 2019. tab, graf
Article in English | LILACS | ID: biblio-985248

ABSTRACT

Abstract Objective: To analyze data related to surgical treatment in patients with congenital heart defects (CHD) and Down syndrome (DS) based on information from International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC). Methods: Between July 1, 2010 and December 31, 2017, 139 patients with CHD and DS underwent surgery at Hospital de Base and Hospital da Criança e Maternidade de São José do Rio Preto (FUNFARME)/Faculdade de Medicina de São José do Rio Preto - SP (FAMERP). A quantitative, observational and cross-sectional study was performed in which the pre, intra and postoperative data were analyzed in an IQIC database. The data included gender, age, prematurity, weight, preoperative procedures, diagnosis, associated cardiac and non-cardiac anomalies, Risk Adjustment for Congenital Heart Surgery (RACHS-1), type of surgery, cardiopulmonary bypass (CPB), perfusion time, aortic clamping time and CPB temperature, bacterial sepsis, surgical site infection and other infections, length of stay in intensive care unit (ICU), length of hospital stay and in-hospital mortality. Results: The most prevalent procedures were complete atrioventricular septal defect repair (58 - 39.45%), followed by closure of ventricular septal defect (36 - 24.49%). The RACHS-1 categories 1, 2, 3 and 4 were distributed as 22 (15%); 49 (33.3%); 72 (49%) and 4 (2.7%), respectively. There were no procedures classified as categories 5 or 6. Bacterial sepsis occurred in 10.2% of cases, surgical site infection in 6.1%, other infections in 14.3%. The median length of ICU stay was 5 days and the median length of hospital stay was 11 days. In-hospital mortality was 6.8%. Conclusion: Surgical treatment in patients with CHD and DS usually does not require highly complex surgical procedures, but are affected by infectious complications, resulting in a longer ICU and hospital length of stay with considerable mortality.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Down Syndrome/complications , Down Syndrome/mortality , Heart Defects, Congenital/surgery , Postoperative Complications/mortality , Surgical Wound Infection/etiology , Surgical Wound Infection/mortality , Infant, Premature , Cross-Sectional Studies , Risk Factors , Treatment Outcome , Hospital Mortality , Sepsis/microbiology , Sepsis/mortality , Risk Assessment , Quality Improvement , Heart Defects, Congenital/complications , Heart Defects, Congenital/mortality , Intensive Care Units , Length of Stay
13.
Rev. bras. anestesiol ; 69(1): 78-81, Jan.-Feb. 2019. graf
Article in English | LILACS | ID: biblio-977424

ABSTRACT

Abstract Background: Livedo reticularis is a benign dermatological condition characterized by ischemic areas permeated by erythematous-cyanotic areas in a lacy pattern, and may be transient or permanent and is frequently associated with body exposure to cold. Cutaneous arterial vasospasm promotes ischemia, and venous dilation of the congested areas occurs by tissue hypoxia or autonomic dysfunction. Patients with Down's syndrome, due to their physiological peculiarities, constitute a representative part of those who require dental care under general anesthesia, and livedo reticularis has a reported incidence of 8-12% in Down's syndrome patients. Objectives: To describe the physiological livedo reticularis in a Down's syndrome patient, with the onset during the anesthetic-surgical procedure. Case report: 5-year-old female patient with Down's syndrome, admitted for dental treatment under balanced general anesthesia with sevoflurane, fentanyl, and atracurium. Transoperative hypothermia occurred with axillary temperature reaching 34.5 °C after 30 min after the beginning of anesthesia. At the end of the procedure, red-purplish skin lesions interspersed with areas of pallor were observed exclusively on the ventromedial aspect of the right forearm, with no systemic signs suggestive of allergic reactions. The established diagnosis was physiological livedo reticularis. There was a total fading of the lesions within 5 days. Conclusion: This report evidences the need for thermal control of patients undergoing anesthesia, as well as the manifestation of livedo reticularis as a consequence of transoperative hypothermia.


Resumo Justificativa: O livedo reticular representa quadro dermatológico benigno, caracterizado por áreas isquêmicas permeadas por áreas eritematocianóticas em padrão rendilhado, pode ser transitório ou permanente e frequentemente é associado à exposição corporal ao frio. O vasoespasmo arterial cutâneo promove a isquemia e a dilatação venosa das áreas congestas e ocorre por hipóxia tecidual ou por disfunção autonômica. Os portadores da síndrome de Down, devido às suas peculiaridades fisiológicas, constituem uma representativa parcela daqueles que necessitam de atendimento odontológico sob anestesia geral e o livedo reticular tem incidência relatada de 8% a 12% em pacientes com síndrome de Down. Objetivos: Descrever quadro de livedo reticular fisiológico em paciente portador de síndrome de Down, com aparecimento durante o ato anestésico-cirúrgico. Relato do caso: Paciente de cinco anos, sexo feminino, síndrome de Down, admitida para tratamento odontológico sob anestesia geral balanceada, com emprego de sevoflurano, fentanil e atracúrio. Houve ocorrência de hipotermia transoperatória, a temperatura axilar atingiu 34,5 ºC após 30 minutos do início da anestesia. Ao término do procedimento, notaram-se lesões cutâneas vermelho-arroxeadas, intercaladas com áreas de palidez, exclusivamente na face ventromedial do antebraço direito, sem sinais sistêmicos sugestivos de reações alérgicas. O diagnóstico firmado foi de livedo reticular fisiológico. Houve esmaecimento total das lesões em cinco dias. Conclusão: O relato apresentado evidencia a necessidade de controle térmico de pacientes submetidos a anestesias, bem como registra manifestação de livedo reticular em consequência de hipotermia transoperatória.


Subject(s)
Humans , Female , Child, Preschool , Dental Care , Down Syndrome/complications , Livedo Reticularis/etiology , Hypothermia/complications , Anesthesia, Dental
14.
Rev. pediatr. electrón ; 15(3): 2-6, oct. 2018. tab
Article in Spanish | LILACS | ID: biblio-998129

ABSTRACT

Introducción La infección respiratoria aguda en nuestro medio generalmente es de característica viral, siendo el virus respiratorio sincicial (VRS) el principal responsable de hospitalización en niños menores de dos años. Es más susceptible en los prematuros, con cardiopatía asociada y con síndrome de Down. (DS). El objetivo principal de este estudio es dar a conocer la incidencia de infección y hospitalización de niños con síndrome de Down por VRS. Para lo cual se realiza la revisión de la base de datos con el número de niños que se atienden en el Hospital Roberto del Río, durante los años 2014-2015, así como la revisión de sus historias clínicas de SD atendidos en el Hospital Roberto del Rio durante este periodo. Resultados: SE analizan 60 niños con SD atendidos en el hospital Roberto del Río que se hospitalizan con infección respiratoria aguda, en su mayoría son de sexo femenino, con VRS negativo, con un rango de hospitalización mínimo entre 7 a 10 días, y máximo de 20 días, y se asocian con más frecuencia a cardiopatía congénita. Se observó un prematuro SD solamente en el estudio. Conclusiones: El 40% de niños atendidos en el Hospital Roberto del Rio se hospitalizan con infección respiratoria aguda y un 41% de los hospitalizados están asociados al VRS. Los niños con SD y con condiciones clínicas asociadas como cardiopatía congénita tienen una alta incidencia de infección y hospitalización.


Summary Introduction: Acute respiratory infection in our environment is usually viral in nature, with respiratory syncytial virus (RSV) being the main cause of hospitalization in children under two years of age, with preterm infants with associated heart disease and Down syndrome being more susceptible. The main objective of this study is to describe the incidence of infection and hospitalization of children with Down syndrome (DS) due to RSV. Method: For this purpose, the database is revised with the number of children with DS treated at the Roberto del Río Children´s Hospital, during the years 2014-2015, as well as the review of their clinical histories. We analyzed 60 cases of children with DS. Results: Hospitalized SD children with acute respiratory infection, were mostly female, with negative RSV, hospitalization range between 7 to 10 days, and a maximum of 20 days, most associated with congenital heart disease. A premature DS baby was observed only in the study. Conclusions: Forty percent of the DS children treated at the Roberto del Rio Children´s Hospital hospitalized with acute respiratory infection and 41% of hospitalized patients were related to RSV, children with DS and associated clinical conditions such as congenital heart disease have a higher incidence of infection and hospitalization.


Subject(s)
Humans , Male , Female , Infant , Down Syndrome/epidemiology , Respiratory Syncytial Virus Infections/epidemiology , Respiratory Tract Infections/epidemiology , Chile/epidemiology , Incidence , Down Syndrome/complications , Hospitalization/statistics & numerical data , Length of Stay
15.
Arch. argent. pediatr ; 116(4): 500-507, ago. 2018. graf, tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-950042

ABSTRACT

Introducción: Los niños con síndrome de Down (SD) tienen mayor frecuencia de leucemia linfoblástica aguda (LLA) y menor supervivencia que pacientes sin síndrome de Down (NSD). Analizamos las características clínicas, demográficas-biológicas y respuestas al tratamiento en SD-LLA versus NSD-LLA. Pacientes y métodos: Pacientes (0-19 años) con LLA desde enero de 1990 a noviembre de 2016. Se compararon características demográficas biológicas y respuestas al tratamiento con chi cuadrado y Wilcoxon rank sum. La supervivencia global y el intervalo libre de eventos (ILE) se analizaron con Kaplan-Meier y el test log-rank. Resultados: Se incluyeron 1795 pacientes, 54 con SD. Los SD-LLA presentaron edad mayor (p= 0,0189). T odos inmuno fenotipo precursor-B, con menor incidencia de anomalías recurrentes (p < 0,0001). Demostraron mejor tasa de respuesta a prednisona (p= 0,09) y mayor mortalidad en inducción y remisión completa (p < 0,0001). Todas las muertes de los SD-LLA fueron relacionadas con el tratamiento. La sobrevida libre de eventos en niños SD-LLA vs.NSD-LLA fue 47 (± 8)% vs. 73 (± 1)% (p= 0,006) y el ILE de los SD-LLA vs. NSD-LLA fue 54 (± 9)% vs. 75 (± 1)% (p= 0,0297). La tasa de recaídas fue similar en ambos grupos (p= 0,6894). El ILE de los SD-LLA fue menor en el grupo de 6-9 años: 39 (± 19)% (p= 0,7885). Conclusiones: Los niños de 6-9 años con SD-LLA años presentó menor sobrevida. Aunque estos niños presentaron una mejor respuesta temprana, la sobrevida libre de eventos e ILE fueron menores debido a la mortalidad relacionada con el tratamiento.


Introduction. Children with Down syndrome (DS) more commonly have acute lymphoblastic leukemia (ALL) and a lower survival rate than those without Down syndrome (WDS). We analyzed the clinical, demographic, and biological characteristics and treatment response of children with DS-ALL versus those WDS-ALL. Patients and methods: Patients with ALL between January 1990 and November 2016. The demographic and biologic characteristics and treatment response were compared using the χ² and Wilcoxon rank-sum tests. The overall survival and event-free interval (EFI) were analyzed using the Kaplan-Meier and log-rank tests. Results. 1795 patients were included; 54 had DS. Patients with DS-ALL were older (p= 0.0189). All had B-cell precursor immunophenotype and a lower incidence of recurrent abnormalities (p < 0.0001). They showed a better response rate to prednisone (p= 0.09) and a higher mortality in induction and complete remission (p < 0.0001). All deaths of patients with DS-ALL were treatment-related. The event-free survival (EFS) was 47% (± 8%) versus 73% (± 1%) (p= 0.006) and the EFI was 54% (± 9%) versus 75% (± 1%) (p= 0.0297) among patients with DS-ALL versus those WDS-ALL, respectively. The rate of relapse was similar in both groups (p= 0.6894). The EFI of patients with DS-ALL was lower in the group aged 6-9 years: 39% (± 19%) (p= 0.7885). Conclusions. A lower survival was observed among children aged 6-9 years with DS-ALL. Although these children showed a better early response, their EFS and EFI were lower due to treatment-related mortality.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Prednisone/administration & dosage , Down Syndrome/complications , Antineoplastic Agents, Hormonal/administration & dosage , Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology , Recurrence , Remission Induction , Survival Rate , Retrospective Studies , Age Factors , Statistics, Nonparametric , Disease-Free Survival , Kaplan-Meier Estimate , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy
16.
Säo Paulo med. j ; 136(1): 84-88, Jan.-Feb. 2018. tab
Article in English | LILACS | ID: biblio-904130

ABSTRACT

ABSTRACT CONTEXT: Bariatric surgery has become the gold-standard treatment for refractory morbid obesity. Obesity is frequently associated with certain syndromes that include coexisting cognitive deficits. However, the outcomes from bariatric surgery in this group of individuals remain incompletely determined. CASE REPORT: A 25-year-old male with Prader-Willi syndrome, whose intelligence quotient (IQ) was 54, was admitted with a body mass index (BMI) of 55 kg/m2, associated with glucose intolerance. He underwent the Scopinaro procedure for biliopancreatic diversion, with uneventful postoperative evolution, and presented a 55% loss of excess weight one year after the surgery, with resolution of glucose intolerance, and without any manifestation of protein-calorie malnutrition. A 28-year-old male with Down syndrome, whose IQ was 68, was admitted with BMI of 41.5 kg/m2, associated with hypertension. He underwent Roux-en-Y gastric bypass, with uneventful postoperative evolution. He presented a 90% loss of excess weight one year after the surgery, with resolution of the hypertension. CONCLUSION: Bariatric surgery among individuals with intellectual impairment is a controversial topic. There is a tendency among these individuals to present significant weight loss and comorbidity control, but less than what is observed in the general obese population. The severity of the intellectual impairment may be taken into consideration in the decision-making process regarding the most appropriate surgical technique. Bariatric surgery is feasible and safe among these individuals, but further research is necessary to deepen these observations.


RESUMO CONTEXTO: A cirurgia bariátrica tornou-se o tratamento padrão ouro para a obesidade mórbida refratária. A obesidade está frequentemente associada a certas síndromes nas quais também coexistem déficits cognitivos, entretanto, os resultados da cirurgia bariátrica nesse grupo de indivíduos ainda não foram completamente determinados. RELATO DE CASO: Um homem de 25 anos com síndrome de Prader-Willi, cujo quociente de inteligência (QI) era estimado em 54, foi admitido com índice de massa corporal (IMC) de 55 kg/m2, associado com intolerância à glicose. Foi submetido a uma derivação biliopancreática à Scopinaro, com evolução pós-operatória sem complicações significativas. Apresentou perda de 55% do excesso de peso um ano após a cirurgia, com resolução da intolerância à glicose, sem manifestação de desnutrição proteico-calórica. Outro paciente, homem de 28 anos com syndrome de Down, cujo QI era de 68, foi admitido com IMC de 41,5 kg/m2, associado a hipertensão arterial. Foi submetido ao bypass gástrico em Y de Roux, com evolução pós-operatória sem complicações. Apresentou perda de 90% do excesso de peso após um ano e resolução da hipertensão. CONCLUSÃO: A cirurgia bariátrica em indivíduos com déficits intelectuais é um tópico controverso. Existe uma tendência entre esses indivíduos de apresentar perda de peso e controle de comorbidades significativos, porém menores que os observados na população obesa geral. A gravidade do déficit intelectual pode ser considerada no processo de decisão sobre a técnica cirúrgica mais adequada. A cirurgia bariátrica é factível e segura nesse grupo de indivíduos. Porém, mais estudos são necessários para aprofundar estas observações.


Subject(s)
Humans , Male , Adult , Prader-Willi Syndrome/complications , Obesity, Morbid/surgery , Down Syndrome/complications , Bariatric Surgery , Obesity, Morbid/complications , Treatment Outcome
17.
CoDAS ; 30(2): e20170164, 2018. tab
Article in English | LILACS | ID: biblio-890837

ABSTRACT

ABSTRACT Purpose To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). Methods Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction. The scores obtained by the individuals in the ABCD were correlated to those obtained on the Lawton-IADL scale. Results Individuals with DS had significantly lower performance than cognitively normal adults and elderly as described in Brazilian studies. Due to the lack of similar studies in our country, we compared our results to those of elderly with Alzheimer's Disease (AD), verifying that the performance of the DS population is similar to that of AD patients, although the former presented better scores on episodic immediate memory tests. There was a significant positive correlation between the scores obtained in the Lawton-IADL and those on the constructs Mental State, Episodic Memory, Linguistic Comprehension and Total ABCD. Conclusion The ABCD battery is a useful tool in the evaluation of adults and elderly with DS and the performance of individuals in this battery correlates with indices of functionality. This is a pioneer study in Brazil, and it points to the need for a better characterization of the linguistic abilities of individuals with DS, in order to allow the elaboration of strategies that stimulate their communicative abilities as to promote greater social insertion for this population.


RESUMO Objetivo Caracterizar o perfil linguístico de adultos e idosos com Síndrome de Down (SD) através da Bateria Arizona para Desordens da Comunicação em Demência (ABCD). Método Foram avaliados trinta indivíduos adultos e idosos com SD, através da bateria cognitiva MoCA, 4 escalas funcionais (Pfeffer, Lawton-IADL, Katz-IADL e IQCODE), e a bateria ABCD, que avalia os domínios Estado Mental, Memória Episódica, Expressão Linguística, Compreensão Linguística e Construção Visuoespacial. Os escores obtidos pelos indivíduos na ABCD foram correlacionados aos obtidos na escala Lawton-IADL. Resultados Os indivíduos com SD apresentaram desempenho bastante inferior ao de adultos e idosos cognitivamente normais descrito na literatura brasileira. Na ausência de estudos semelhantes em nosso meio, comparamos os resultados aos de idosos com Doença de Alzheimer (DA), verificando que o desempenho da população com SD é equiparável ao de indivíduos com DA, embora os primeiros apresentem melhores escores em provas de memória episódica imediata. Houve correlação positiva significante entre os escores obtidos na escala Lawton-IADL e os escores dos construtos Estado Mental, Memória Episódica, Compreensão Linguística e Total da ABCD. Conclusão A bateria ABCD é um instrumento útil na avaliação de adultos e idosos com SD e o desempenho dos indivíduos nesta bateria apresenta correlação com índices de funcionalidade. Este estudo é pioneiro em nosso meio e mostra a necessidade de melhor caracterização das habilidades linguísticas de indivíduos com SD, a fim de permitir a elaboração de estratégias de estímulo de suas habilidades comunicativas a fim de proporcionar maior inserção social desta população.


Subject(s)
Humans , Male , Female , Adult , Aged , Down Syndrome/complications , Communication Disorders/etiology , Pilot Projects , Prospective Studies , Reproducibility of Results , Alzheimer Disease , Middle Aged , Neuropsychological Tests
19.
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1253763

ABSTRACT

La atresia de duodeno es una causa poco frecuente de oclusión intestinal. Generalmente el diagnóstico se realiza en etapa prenatal o en el período neonatal principalmente para aquellos casos de oclusión completa, mientras que aquellos con oclusión incompleta pueden diagnosticarse más tardíamente. Se presenta el caso clínico de una paciente con una forma de presentación infrecuente, con diagnóstico luego del año de vida. Se realizó una duodeno-duodeno anastomosis, con buena evolución postoperatoria.


Duodenal atresia is a rare cause of intestinal occlusion. Generally, the diagnosis is made in the prenatal stage or in the neonatal period mainly for those cases of complete occlusion, whereas those with incomplete occlusion may be diagnosed later. We present the case of a patient with an uncommon presentation, with diagnosis after one year of life. A duodenum-duodenum anastomosis was performed, with good postoperative evolution.


A atresia duodenal é uma causa rara de oclusão intestinal. O diagnóstico geralmente é feito no estágio pré-natal ou no período neonatal principalmente para os casos de oclusão completa, enquanto aqueles com oclusão incompleta podem ser diagnosticados mais tarde. Apresentamos o caso de uma paciente com uma apresentação incomum, com diagnóstico após o ano de vida. Uma anastomose duodeno-duodeno foi realizada, com boa evolução pós-operatória.


Subject(s)
Humans , Female , Infant , Duodenal Obstruction/surgery , Duodenal Obstruction/diagnostic imaging , Anastomosis, Surgical/methods , Duodenoscopy , Down Syndrome/complications , Ultrasonography, Doppler , Duodenum/abnormalities
20.
Prensa méd. argent ; 103(7): 421-426, 20170000.
Article in Spanish | LILACS, BINACIS | ID: biblio-1372861

ABSTRACT

La frecuencia del síndrome de Down es fuertemente dependiente de la edad materna y la incidencia varia según las edades maternas. Esta incidencia puede diferir de un país a otro de acuerdo a los factores sociales y ambientales predominantes en tales países. Este estudio pretende documentar la prevalencia de defectos cardíacos congénitos en pacientes con síndrome de Down, identificar la asociación entre la edad materna y la frecuencia de enfermedades cardíacas congénitas en estos sujetos. Métodos: El estudio fue prospectivo, cruzado-sectorial y consecutivo, involucrando a sujetos de dos centros los cuales eran un hospital terciario hospital vado y un centro cardiológico principal. Los niños con características clínicas de síndrome de Down fueron sometidos a ecocardiografías transtorácicas efectuadas por un cardiólogo. Resultados: Un total de 195 pacientes con síndrome de Down cuyas edades abarcaban entre 1 día a 12 años, fueron estudiados. La edad media + SD fue 241.03 + 529.71 días y la relación masculino a femenino de 1.04.1. El promedio de la edad materna iba desde los 19 a los 44 años con una edad media +SD de 32.36 + 5.43 años . Hasta el 16.9 % tenían un corazón estructuralmente normal. El defecto más común fue el defecto septal aurículoventricular 24.1 % . No hubo una asociación significativa entre la edad materna y la frecuencia de defectos cardíacos congénitos en estos sujetos. Conclusión: La incidencia de enfermedad cardíaca congénita es alta en los sujetos con síndrome de Down. Los defectos aurículoventriculares fueron los defectos cardíacos más comunes en estos sujetos. La incidencia de defectos cardíacos congénitos en los sujetos fue decreciendo de la edad materna de 36 años y por encima. La evaluación cardíaca rutinaria incluyendo la ecocardiografía se recomienda a todos los pacientes con síndrome de Down.


Summary The occurrence of Down syndrome is strongly dependent on maternal age and incidence varies at various maternal ages. This incidence may differ from one country to another according to the social and environmental factors predominant in such countries. The study aims to document the prevalence of congenital heart defects in patients with Down syndrome, identify the association between maternal age and occurrence of congenital heart disease among these subjects. Methods. The study was prospective, cross-sectional and consecutive, involving subjects from two centers which were, a tertiary hospital a private hospital and a major cardiology center. Children with clinical features of Down syndrome had transthoracic echocardiography done by a cardiologist. Results. A total of 195 patients with Down syndrome with their ages between 1 day to 12 years. The mean age + SD were 241.03 + 529.71 days and male to female ratio of 1.04.1. The mother´s age range was from 19 to 44 years with a mean age of + SD of 32.36+ 5.43 years. Up to 16.9 % had structurally normal heart. The most common heart defect was atrioventricular septal defect 24.1 %. There was no significant association between maternal age and occurrence of congenital heart defects in the subjects. Conclusion. The incidence of congenital heart disease is high among subjects with Down syndrome. Atrioventricular defects were the commonest cardiac defect among the subjects. The incidence of congenital heart defect in the subjects was decreasing from maternal age 36 years and above. Routine cardiac evaluation including echocardiography is recommended for all patients with Down syndrome


Subject(s)
Humans , Infant , Child, Preschool , Child , Echocardiography , Prospective Studies , Follow-Up Studies , Maternal Age , Down Syndrome/complications , Cross-Over Studies , Heart Diseases/congenital
SELECTION OF CITATIONS
SEARCH DETAIL