Safety, efficacy, and tolerability of memantine for cognitive and adaptive outcome measures in adolescents and young adults with Down syndrome: a randomised, double-blind, placebo-controlled phase 2 trial.

BACKGROUND: Down syndrome is a chromosomal disorder with considerable neurodevelopmental impact and neurodegenerative morbidity. In a pilot trial in young adults with Down syndrome, memantine (a drug approved for Alzheimer's disease) showed a significant effect on a secondary measure of episodic memory. We aimed to test whether memantine would improve episodic memory in adolescents and young adults with Down syndrome. METHODS: We did a randomised, double-blind, placebo-controlled phase 2 trial with a parallel design, stratified by age and sex. Participants (aged 15-32 years) with either trisomy 21 or complete unbalanced translocation of chromosome 21 and in general good health were recruited from the community at one site in Brazil and another in the USA. Participants were randomly assigned (1:1) to receive either memantine (20 mg/day orally) or placebo for 16 weeks. Computer-generated randomisation tables for both sites (allocating a placebo or drug label to each member of a unique pair of participants) were centrally produced by an independent statistician and were shared only with investigational pharmacists at participating sites until unblinding of the study. Participants and investigators were masked to treatment assignments. Neuropsychological assessments were done at baseline (T1) and week 16 (T2). The primary outcome measure was change from baseline to week 16 in the California Verbal Learning Test-second edition short-form (CVLT-II-sf) total free recall score, assessed in the per-protocol population (ie, participants who completed 16 weeks of treatment and had neuropsychological assessments at T1 and T2). Linear mixed effect models were fit to data from the per-protocol population. Safety and tolerability were monitored and analysed in all participants who started treatment. Steady-state concentrations in plasma of memantine were measured at the end of the trial. This study is registered at ClinicalTrials.gov, number NCT02304302. FINDINGS: From May 13, 2015, to July 22, 2020, 185 participants with Down syndrome were assessed for eligibility and 160 (86%) were randomly assigned either memantine (n=81) or placebo (n=79). All participants received their allocated treatment. Linear mixed effect models were fit to data from 149 (81%) participants, 73 in the memantine group and 76 in the placebo group, after 11 people (eight in the memantine group and three in the placebo group) discontinued due to COVID-19 restrictions, illness of their caregiver, adverse events, or low compliance. The primary outcome measure did not differ between groups (CVLT-II-sf total free recall score, change from baseline 0·34 points [95% CI -0·98 to 1·67], p=0·61). Memantine was well tolerated, with infrequent mild-to-moderate adverse events, the most common being viral upper respiratory infection (nine [11%] participants in the memantine group and 12 [15%] in the placebo group) and transient dizziness (eight [10%] in the memantine group and six [8%] in the placebo group). No serious adverse events were observed. Amounts of memantine in plasma were substantially lower than those considered therapeutic for Alzheimer's disease. INTERPRETATION: Memantine was well tolerated, but cognition-enhancing effects were not recorded with a 20 mg/day dose in adolescents and young adults with Down syndrome. Exploratory analyses point to a need for future work. FUNDING: Alana Foundation. TRANSLATION: For the Portuguese translation of the abstract see Supplementary Materials section.

Foot rotation asymmetry in Down syndrome and the relationship with crawling and walking onset: a cross-sectional study / A marcha de base alargada na síndrome de Down e a relação com o engatinhar e os primeiros passos: um estudo transversal

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

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

BACKGROUND: Pathogenic variants involving the MYT1L gene lead to an autosomal dominant form of syndromic obesity, characterized by polyphagia, intellectual disability/developmental delay, and behavioral problems, and that a characteristic facial phenotype does not seem to be recognizable. METHODS: Trio whole exome sequencing was performed in a 10-year-old Brazilian male presenting polyphagia, severe early-onset obesity, intellectual disability, speech delay, macrocephaly, frontal bossing, telecanthus, strabismus, and hypogenitalism. Additionally, we performed a literature review of patients carrying non-copy number MYT1L variants. RESULTS: A de novo genetic variant not previously reported in MYT1L (NM_015025.4:c.2990C>A) was identified in the proband and classified as pathogenic. From a literature search, 22 further patients carrying non-copy number MYT1L variants were identified, evidencing that although the associated phenotype is quite variable, intellectual disability/developmental and speech delays are always present. Further, most patients have obesity or overweight due to polyphagia. Macrocephaly, strabismus, behavioral problems, and hand/feet malformations are also recurrent features. CONCLUSIONS: We described the first Brazilian case of MYT1L related syndrome and highlighted clinical characteristics based on the literature. Other syndromic forms of obesity such as Prader-Willi, Bardet-Biedl, Börjeson-Forssman-Lehmann, MORM, Cohen, Alstrom, and Kleefstra type 1 syndromes should be considered in the differential diagnosis. Further, although obesity is frequent, it is not an obligatory feature of all carriers of MYT1L mutations.

Systematic Review of the Main Motor Scales for Clinical Assessment of Individuals with down Syndrome.

Objective: The aim of the present review was to identify the motor scales currently used to assess individuals with Down Syndrome (DS).Method: PubMed, WOS and BVS databases were systematically searched to identify the most relevant published studies that used motor scales in the evaluation of individuals with DS.Results: Of the 99 studies that met the eligibility criteria in this process, 20 experimental and observational studies were found to fully meet the eligibility criteria.Conclusion: We identified several motor scales including the Alberta Infant Motor Scale (AIMS), Test of Infant Motor Performance (TIMP), BAYLEY, Peabody Gross Motor Scale (PGMS-PDMS-GM), Gross Motor Function Measure (GMFM), Movement Assessment Battery for Children (MABC) and Pediatric Evaluation of Disability Inventory (PEDI).

Functional skills and caregiver assistance of Brazilian children and adolescents with Down syndrome.

BACKGROUND: Research into the evolution of the functional performance of children and adolescents with DS enables parents and professionals involved in their follow-up to promote their development. OBJECTIVE: To evaluate the functional abilities of children and adolescents with Down syndrome and the assistance offered by their parents/caregivers. METHOD: A cross-sectional study, with 100 children and adolescents with DS whom parents or caregivers were interviewed to complete the Paediatric Evaluation of Disability Inventory (PEDI). Linear regression analyses were performed with the software MedCalc version 16.8.4 and GraphPad Prism version 6.07. RESULTS: Children and adolescents with DS need more time to acquire skills of self-care, mobility and social function. Their parents were able to better identify the difficulties before the children reached 8-years of age. CONCLUSION: Parents can identify the difficulties of their children when they are younger and offer more assistance, but this does not happen when the children are of elementary school age. This suggests that they need professional support that is not restricted to the guidelines and the schools.

Clinical and Radiologic Outcomes of the Surgical Treatment of Patellofemoral Instability in Children with Down Syndrome and Dislocated Patella: Case Series.

INTRODUCTION: We attended three skeletally immature patients with Down syndrome (DS) with complaints of severe patellofemoral instability and dislocated patella (preoperatively, Dugdale classification IV or V), in addition to low functional capacity, with falls during gait. The technique (lateral release, medial capsulectomy, reconstruction of the medial patellofemoral ligament (MPFL) with the patellar ligament and associated techniques, and some knees) and results in three children with DS and bilaterally dislocated patella were revealed. CASE REPORT: Our minimum follow-up was 27 months and maximum was 105 months (average of 64 months). All children improved gait, patellar stability, Kujala (58.13%), and subjective IDKC (40.55%) scores and improved the congruence and the trochlea groove angles. CONCLUSION: The patellofemoral instability in children with DS is a challenge. We should use an arsenal of surgical techniques in this complex problem. We believe in early surgery to improve the formation of structures, especially in patients with gross instabilities and frequent falls. In all cases, we detected a weakness of medial components and lateral contracture, reconstructed the MPFL (we were the first researchers to describe this procedure for this group of patients), and performed a medial capsulectomy and lateral release. In some knees, intraoperatively, it was necessary to associate the reconstruction of the medial patellotibial ligament to improve instability. We consider fundamental analysis of the axis with panoramic radiographs and hemiepiphysiodes is in cases of asymmetric or severe valgus.

Trochlear dysplasia and patellar instability in patients with Down syndrome.

OBJECTIVE: To analyze occurrences of trochlear dysplasia in patients with Down syndrome in the presence and absence of femoropatellar instability. METHODS: Eleven knees with stable patellae and thirteen with unstable patellae in patients with Down syndrome were compared. Radiographs were produced to evaluate patellar height, trochlear angle and femoropatellar congruence angle. RESULTS: The prevalence ratio for a high patella between the unstable and the stable patients was 1.01 using the Insall-Salvati index and 0.68 using the Caton-Deschamps index. For an abnormal congruence angle, the prevalence ratio was 2.04. An increased congruence angle was only found in four cases, all presenting instability. CONCLUSIONS: Trochlear dysplasia was only found in cases of instability. The trochlear groove angle and the femoropatellar congruence angle correlated with the presence of patellar instability.

OBJETIVO: Analisar displasia troclear em pacientes portadores de síndrome de Down na presença e na ausência da instabilidade femoropatelar. MÉTODOS: Comparação de 11 joelhos com patelas estáveis e 13 joelhos com patelas instáveis em portadores de síndrome de Down. Foram feitas radiografias em que foram avaliados altura patelar, ângulo da tróclea e ângulo de congruência femoropatelar. RESULTADOS: A razão de prevalência de patela alta entre os pacientes instáveis e os pacientes estáveis foi de 1,01 para o índice de Insall-Salvati e de 0,68 para o índice de Caton-Deschamps. Para o ângulo de congruência alterado, a razão de prevalência foi de 2,04. O ângulo de congruência aumentado foi encontrado apenas em quatro casos, todos com instabilidade. CONCLUSÕES: A displasia da tróclea foi encontrada apenas em casos de instabilidade, o ângulo do sulco da tróclea e o ângulo de congruência femoropatelar se correlacionaram com a presença de instabilidade patelar.

Trochlear dysplasia and patellar instability in patients with Down syndrome / Displasia da tróclea e instabilidade patelar em pacientes com síndrome de Down

OBJECTIVE: To analyze occurrences of trochlear dysplasia in patients with Down syndrome in the presence and absence of femoropatellar instability. METHODS: Eleven knees with stable patellae and thirteen with unstable patellae in patients with Down syndrome were compared. Radiographs were produced to evaluate patellar height, trochlear angle and femoropatellar congruence angle. RESULTS: The prevalence ratio for a high patella between the unstable and the stable patients was 1.01 using the Insall-Salvati index and 0.68 using the Caton-Deschamps index. For an abnormal congruence angle, the prevalence ratio was 2.04. An increased congruence angle was only found in four cases, all presenting instability. CONCLUSIONS: Trochlear dysplasia was only found in cases of instability. The trochlear groove angle and the femoropatellar congruence angle correlated with the presence of patellar instability. .

OBJETIVO: Analisar displasia troclear em pacientes portadores de síndrome de Down na presença e na ausência da instabilidade femoropatelar. MÉTODOS: Comparação de 11 joelhos com patelas estáveis e 13 joelhos com patelas instáveis em portadores de síndrome de Down. Foram feitas radiografias em que foram avaliados altura patelar, ângulo da tróclea e ângulo de congruência femoropatelar. RESULTADOS: A razão de prevalência de patela alta entre os pacientes instáveis e os pacientes estáveis foi de 1,01 para o índice de Insall-Salvati e de 0,68 para o índice de Caton-Deschamps. Para o ângulo de congruência alterado, a razão de prevalência foi de 2,04. O ângulo de congruência aumentado foi encontrado apenas em quatro casos, todos com instabilidade. CONCLUSÕES: A displasia da tróclea foi encontrada apenas em casos de instabilidade, o ângulo do sulco da tróclea e o ângulo de congruência femoropatelar se correlacionaram com a presença de instabilidade patelar. .

Cardiac autonomic modulation of children with Down syndrome.

The aim of this study is to analyze the autonomic modulation in children with Down syndrome (DS). The study was conducted with a convenience sample of children with DS and without heart disease, from the Genetics Clinic of the Hospital Infantil Darcy Vargas and APAE São Paulo, São Paulo, SP, Brazil. The control group was matched for sex and age. The analysis of autonomic modulation was performed using the indices of heart rate variability (HRV). The children remained in the supine position with spontaneous breathing for 20 min. Heart rate was recorded beat-to-beat. HRV analysis was performed in time and frequency domain. For data analysis, we used Student's t test: unpaired and Mann-Whitney. It was considered statistically significant at p < 0.05. From 75 children with DS, 50 were excluded, a total of 25 children [16 boys, 8.6 (1.4) years] participated in this study, and the control group also consisted of 25 children [16 boys, 9.0 (1.2) years] without the syndrome. The BMI of the volunteers with DS was higher than the controls [19.1 (2.9) vs. 15.8 (1.2), p < 0.0001]. There were differences between groups in the indices in frequency domain: LFms(2) [1242.1 (788.25) vs. 786.44 (481.90), p = 0.040], LFun [69.104 (11.247) vs. 57.348 (11.683), p = 0.0004], HFun [30.896 (11.247) vs. 42.520 (11.634), p = 0.0004] and LF/HF [2.594 (1.104) vs. 1.579 (0.9982), p = 0.0004]. No differences were observed in time domain indices. The results indicate increased indices representing the sympathetic branch of the autonomic nervous system and those that indicate the overall modulation in children with DS.

Avaliação da escoliose e seu risco evolutivo em três crianças com síndrome de Marfan / Evaluation of scoliosis and its evolutionary risk in three brothers with Marfan?s syndrome

Síndrome de Marfan (SM) é uma alteração genética, autossômica dominante, envolvendo necessariamente os derivados do tecido conjuntivo, com repercussão multissistêmica, em três sistemas principais: ocular, músculo-esquelético e cardiovascular. Dentre as alterações músculo-esqueléticas se evidencia a escoliose, que se caracteriza por um desvio tridimensional da coluna, apresentando deformidades estruturais e limitações funcionais. O objetivo deste estudo foi avaliar as alterações posturais, em especial a escoliose, bem como seu risco evolutivo em três irmãos com síndrome de Marfan, com idades entre 7 e 8 anos, submetidos a anamnese, avaliação postural por meio da biofotogrametria computadorizada, avaliação radiológica, avaliação pôndero-estatural e presença de caracteres sexuais secundários. As três crianças com SM avaliadas neste estudo apresentam alterações posturais, em que se destaca uma escoliose com risco evolutivo, definido pela correlação com os dados da anamnese, da avaliação radiológica, as características da síndrome e o potencial de crescimento evidenciado, pela avaliação pôndero-estatural e ausência de sinais de amadurecimento sexual.

Acompanhamento nutricional de pacientes com Síndrome de Downatendidos em um consultório pediátrico / Nutritional monitoring of Down Syndrome patients assisted by a pediatric clinic / La supervisión nutricional de los pacientes con Síndrome de Downasistidos por una clínica pediátrica

A Síndrome de Down (SD) é uma condição genética que compreende aproximadamente 18 por cento da população com comprometimento intelectual. Anualmente afeta cerca de 8 mil bebês brasileiros. Apresentam uma variedade de complicações tornando-os mais vulneráveis ao aparecimentode doenças. A inexistência de parâmetros antropométricos específicos e nacionais para todas as idades dificulta a avaliação do desenvolvimentopôndero-estatural, identificação de fatores de risco e prescrição adequada da terapia nutricional a essa população. Esse trabalho visou a definir o perfil antropométrico comparando-se resultados obtidos pelo emprego de dois padrões de referência indicados para classificar o estado nutricionalde indivíduos com SD. Esta pesquisa avaliou 350 crianças com SD, de ambos os gêneros, com idades entre 0 e 11 anos, atendidas em uma clínica pediátrica de São Paulo, a partir da coleta de dados registrados em prontuários. Determinou-se o diagnóstico nutricional de acordo com as curvas de crescimento propostas por dois padrões de referência. A maioria das variáveis antropométricas, pelos dois padrões, foram superiores no gênero masculino. Considerando-se peso e estatura/idade percebeu-se que, utilizando-se o padrão internacional, encontram-se mais indivíduos eutróficos.Comparando-se os resultados obtidos com o emprego dos dois padrões de referência, a classificação de déficit de peso e de baixa estatura paraidade segundo padrão nacional resultou em 2 vezes mais baixo peso e baixa estatura. Novos estudos contemplando curvas de peso/estatura, Índicede Massa Corporal, dobras e perímetros são necessários para maior precisão no diagnóstico nutricional. A avaliação e intervenção nutricional sãofundamentais para garantir longevidade com qualidade.

Down Syndrome (DS) is a genetic condition that affects about 18 per cent of the population with intellectual compromising. Annually it affectsabout 8 thousand Brazilian babies. These babies present a variety of complications that makes them more vulnerable to diseases. The inexistenceof specific and national anthropometric parameters for all ages makes it difficult to evaluate weight and stature development, identify risk factorsand adequately choosing nutritional therapy to this population. This work aims to define these patients anthropometric profile comparing resultsof two sets of reference parameters used for classifying the nutritional condition of individuals with DS. This research evaluated 350 children withDS, both female and male, with ages from 0 to 11 years assisted by a pediatric clinic from São Paulo City on the basis of data registered in clinicalhistories. Nutritional diagnosis was determined according growth curves proposed by two sets of reference parameters. Most anthropometric variables presented higher values for male subjects in both reference parameters. Considering weight and stature/age, we perceived that the use of the international standard reveals a greater number of euthrophic individuals. Comparing results of the two standards, the classification of weight deficit and low stature correlated to age according to Brazil’s standard revealed a double percentage of lower weight and low stature subjects. Newstudies on weight / stature curves, Body Mass Index, folds and perimeters are necessary for higher precision in nutritional diagnosis. Nutritionalevaluation and intervention are vital to guarantee longevity with quality.

La Síndrome de Down (SD) es una condición genética que afecta unos 18 por ciento de la población con comprometimiento intelectual. Afecta anualmente unos 8 mil bebés brasileños. Estos bebés presentan una variedad de complicaciones que los hacen más vulnerables a enfermedades. Lainexistencia de parámetros antropométricos específicos y nacionales para todas las edades hace difícil evaluar el peso y el desarrollo de la estatura, identificar factores de riesgo y elegir terapias nutricionales adecuadas a esta población. Este trabajo apunta definir el perfil antropométrico de estos pacientes comparando resultados de dos sistemas de parámetros de referencia usados para clasificar la condición nutricional de individuos con la SD. Esta investigación evaluó a 350 niños con SD, hembras y varónes, con edades desde 0 hasta 11 años asistidos por una clínica pediátrica de la ciudad de São Paulo en base de los datos registrados en históricos clínicas. Se hizo la diagnosis nutricional según curvas de crecimiento propuestaspor dos sistemas de parámetros de referencia. La mayoría de las variables antropométricas presentaron valores más altos para los sujetos masculinosen ambos parámetros de referencia. Considerando el peso y la estatura/edad, percibimos que el uso del estándar internacional revela un mayor número de individuos eutróficos. Comparando resultados de los dos estándares, la clasificación del déficit del peso y baja estatura por edad, segúnel estándar del Brasil revela un porcentaje doble de sujetos con peso más bajo y baja estatura. Nuevos estudios de curvas de peso/estatura, índice de masa corporal, doblas y perímetros son necesarios para una mayor precisión en diagnosis nutricional. La evaluación y la intervención nutricionalesson vitales como para garantizar longevidad con calidad.

Acompanhamento nutricional de pacientes com Síndrome de Downatendidos em um consultório pediátrico / La supervisión nutricional de los pacientes con Síndrome de Downasistidos por una clínica pediátrica / Nutritional monitoring of Down Syndrome patients assisted by a pediatric clinic

A Síndrome de Down (SD) é uma condição genética que compreende aproximadamente 18 por cento da população com comprometimento intelectual. Anualmente afeta cerca de 8 mil bebês brasileiros. Apresentam uma variedade de complicações tornando-os mais vulneráveis ao aparecimentode doenças. A inexistência de parâmetros antropométricos específicos e nacionais para todas as idades dificulta a avaliação do desenvolvimentopôndero-estatural, identificação de fatores de risco e prescrição adequada da terapia nutricional a essa população. Esse trabalho visou a definir o perfil antropométrico comparando-se resultados obtidos pelo emprego de dois padrões de referência indicados para classificar o estado nutricionalde indivíduos com SD. Esta pesquisa avaliou 350 crianças com SD, de ambos os gêneros, com idades entre 0 e 11 anos, atendidas em uma clínica pediátrica de São Paulo, a partir da coleta de dados registrados em prontuários. Determinou-se o diagnóstico nutricional de acordo com as curvas de crescimento propostas por dois padrões de referência. A maioria das variáveis antropométricas, pelos dois padrões, foram superiores no gênero masculino. Considerando-se peso e estatura/idade percebeu-se que, utilizando-se o padrão internacional, encontram-se mais indivíduos eutróficos.Comparando-se os resultados obtidos com o emprego dos dois padrões de referência, a classificação de déficit de peso e de baixa estatura paraidade segundo padrão nacional resultou em 2 vezes mais baixo peso e baixa estatura. Novos estudos contemplando curvas de peso/estatura, Índicede Massa Corporal, dobras e perímetros são necessários para maior precisão no diagnóstico nutricional. A avaliação e intervenção nutricional sãofundamentais para garantir longevidade com qualidade. Palavras-chave: Síndrome de Down. Antropometria. Avaliação Nutricional.

Down Syndrome (DS) is a genetic condition that affects about 18 per cent of the population with intellectual compromising. Annually it affectsabout 8 thousand Brazilian babies. These babies present a variety of complications that makes them more vulnerable to diseases. The inexistenceof specific and national anthropometric parameters for all ages makes it difficult to evaluate weight and stature development, identify risk factorsand adequately choosing nutritional therapy to this population. This work aims to define these patients anthropometric profile comparing resultsof two sets of reference parameters used for classifying the nutritional condition of individuals with DS. This research evaluated 350 children withDS, both female and male, with ages from 0 to 11 years assisted by a pediatric clinic from São Paulo City on the basis of data registered in clinicalhistories. Nutritional diagnosis was determined according growth curves proposed by two sets of reference parameters. Most anthropometric variables presented higher values for male subjects in both reference parameters. Considering weight and stature/age, we perceived that the use of the international standard reveals a greater number of euthrophic individuals. Comparing results of the two standards, the classification of weight deficit and low stature correlated to age according to Brazil’s standard revealed a double percentage of lower weight and low stature subjects. Newstudies on weight / stature curves, Body Mass Index, folds and perimeters are necessary for higher precision in nutritional diagnosis. Nutritionalevaluation and intervention are vital to guarantee longevity with quality.Keywords: Down Syndrome. Anthropometry. Nutrition Assessment.

La Síndrome de Down (SD) es una condición genética que afecta unos 18 por ciento de la población con comprometimiento intelectual. Afecta anualmente unos 8 mil bebés brasileños. Estos bebés presentan una variedad de complicaciones que los hacen más vulnerables a enfermedades. Lainexistencia de parámetros antropométricos específicos y nacionales para todas las edades hace difícil evaluar el peso y el desarrollo de la estatura, identificar factores de riesgo y elegir terapias nutricionales adecuadas a esta población. Este trabajo apunta definir el perfil antropométrico de estos pacientes comparando resultados de dos sistemas de parámetros de referencia usados para clasificar la condición nutricional de individuos con la SD. Esta investigación evaluó a 350 niños con SD, hembras y varónes, con edades desde 0 hasta 11 años asistidos por una clínica pediátrica de la ciudad de São Paulo en base de los datos registrados en históricos clínicas. Se hizo la diagnosis nutricional según curvas de crecimiento propuestaspor dos sistemas de parámetros de referencia. La mayoría de las variables antropométricas presentaron valores más altos para los sujetos masculinosen ambos parámetros de referencia. Considerando el peso y la estatura/edad, percibimos que el uso del estándar internacional revela un mayor número de individuos eutróficos. Comparando resultados de los dos estándares, la clasificación del déficit del peso y baja estatura por edad, segúnel estándar del Brasil revela un porcentaje doble de sujetos con peso más bajo y baja estatura. Nuevos estudios de curvas de peso/estatura, índice de masa corporal, doblas y perímetros son necesarios para una mayor precisión en diagnosis nutricional. La evaluación y la intervención nutricionalesson vitales como para garantizar longevidad con calidad. Palabras llave: Síndrome de Down. Antropometría. Evaluación Nutricional.

Salivary parameters in infants aged 12 to 60 months with Down syndrome.

The purpose of this study was to measure certain components in whole saliva from children with Down syndrome aged 12 months to 60 months. Twenty children with Down syndrome were compared with 18 children without Down syndrome. Whole saliva was collected under slight suction and the salivary pH was measured with a portable pH meter soon after collection. Electrolyte concentrations were determined by inductively coupled argon plasma with atomic emission spectrometry. Sialic acid was determined by thiobarbituric acid assay. Amylase was assayed measuring the maltose produced by the breakdown of starch and peroxidase with ortho-dianisidine. No statistically significant differences were observed in sialic acid, calcium, phosphorus and magnesium concentrations between the group with Down syndrome and the control group. Protein and sodium concentration were higher in the group with Down syndrome compared to the control group. On the other hand, the flow rate, pH, amylase and peroxidase activities and potassium concentration were lower in those with Down syndrome compared to those children in the control group.

Buffer capacity, pH, and flow rate in saliva of children aged 2-60 months with Down syndrome.

This study measured the flow rate, pH, and buffer capacity of saliva from children with Down syndrome aged 2-60 months. We compared 25 children with Down syndrome with 21 children without Down syndrome. The whole saliva was collected under slight suction and the pH and the buffer capacity were determined using a digital pHmeter. The buffer capacity was measured by titration with 0.01 N HCl. The Down syndrome group demonstrated higher buffer capacity than the control group in the pH ranges of 6.9-6.0, 5.9-5.0, and 4.9-4.0. The flow rate was low in the Down syndrome group. Boys from the Down syndrome group demonstrated higher buffer capacity in the pH ranges 6.9-6.0, 5.9-5.0, and 4.9-4.0 than controls, while girls from the Down syndrome group showed no difference compared with controls. Girls with Down syndrome demonstrated significant difference only in the range of pHi-pH 7.0. Conclusion. These data suggest that the Down syndrome persons present a better buffer capacity, supporting the results observed in several studies which found the low dental caries in persons with Down syndrome.

Electrolyte concentrations in saliva of children aged 6-10 years with Down syndrome.

STUDY DESIGN: In this study sodium, potassium, calcium, phosphorus, zinc, and magnesium ion concentration was analyzed in stimulated whole saliva in 22 children with Down syndrome aged 6 to 10 years. These children were compared with 21 healthy children of the same age. Stimulated saliva was collected by chewing a piece of parafilm for 10 minutes. The pH was measured with a portable pH meter after collection. Electrolyte concentrations were determined by inductively coupled argon plasma with atomic emission spectrometry. RESULTS: No statistically significant differences were observed in phosphorus, zinc, magnesium, and calcium concentration between the children with Down syndrome and the control children. The sodium concentration showed about 66.8% higher value in the Down syndrome than in the control group. On the other hand the flow rate and potassium concentration were lower in the Down syndrome than in the control group. CONCLUSION: Our results suggest that there is alteration in the metabolism of the duct and/or acinar cells of salivary glands of Down syndrome children.

Hipotireoidismo e Sindrome de Down / Hypothireoidism and Down's syndrome

Os autores relatam os resultados da funcao tireoidiana de 40 pacientes portadores de Sindrome de Down estudados no Hospital Infantil Darcy Vargas, Morumbi, Sao Paulo (SP), durante o mes de maio de 1989. Referem as principais etiologias envolvidas no comprometimento tiroidiano na Sindrome de Down.

Síndrome de Beckwith-Wiedemann: considerações de interesse clínico e relato de caso / Beckwith-Wiedemann syndrome: considerations of clinical interest and case report

É apresentado um caso de Síndrome de Beckwith-Wiedemann, acompanhado dos oito meses aos quatro anos de idade. Discutem-se seus aspectos clínicos, sua etiopatogenia, além de se tecerem considerações a respeito de sua terapêutica. Chama-se a atenção do cirurgião-dentista para o diagnóstico desse distúrbio de desenvolvimento, cujo componente mais freqüente é a macroglossia, além da sua relação com o aparecimento de neoplasias de variadas origens

Transposiçäo de pênis e escroto: apresentaçäo de 16 casos de uma nova proposiçäo cirúrgica / Penis and scrotum transposition: report of 16 cases and a new surgical proposition

Apresentam-se 16 casos de crianças com transposiçäo de pênis e escroto, com hipospádia e bifidez escrotal, dos quais 14 foram operados pela técnica de Glenn com modificaçöes. Faz-se uma revisäo bibliográfica, compilando 39 casos de crianças operadas por diferentes técnicas cirúrgicas, dentre as quais a descrita por Glenn. No entanto, näo foi encontrada casuística semelhante à do presente trabalho