Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers.

Down Syndrome (DS) caused by trisomy 21 results in various congenital and developmental complications in children. It is crucial to cytogenetically diagnose the DS cases early for their proper health management and to reduce the risk of further DS childbirths in mothers. In this study, we performed a cytogenetic analysis of 436 suspected DS cases using karyotyping and fluorescent in situ hybridization. We detected free trisomies (95.3%), robertsonian translocations (2.4%), isochromosomes (0.6%), and mosaics (1.2%). We observed a slightly higher incidence of DS childbirth in younger mothers compared to mothers with advanced age. We compared the somatic aneuploidy in peripheral blood of mothers having DS children (MDS) and control mothers (CM) to identify biomarkers for predicting the risk for DS childbirths. No significant difference was observed. After induced demethylation in peripheral blood cells, we did not observe a significant difference in the frequency of aneuploidy between MDS and CM. In conclusion, free trisomy 21 is the most common type of chromosomal abnormality in DS. A small number of DS cases have translocations and mosaicism of chromosome 21. Additionally, somatic aneuploidy in the peripheral blood from the mother is not an effective marker to predict DS childbirths.

Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21.

OBJECTIVE: In our previous work, we performed the first genome-wide association study to find genetic risk factors for maternal nondisjunction of chromosome 21. The objective of the current work was to perform stratified analyses of the same dataset to further elucidate potential mechanisms of genetic risk factors. METHODS: We focused on loci that were statistically significantly associated with maternal nondisjunction based on this same dataset in our previous study and performed stratified association analyses in seven subgroups defined by age and meiotic recombination profile. In each analysis, we contrasted a different subgroup of mothers with the same set of fathers, the mothers serving as cases (phenotype: meiotic nondisjunction of chromosome 21) and the fathers as controls. RESULTS: Our stratified analyses identified several genes whose patterns of association are consistent with generalized effects across groups, as well as other genes that are consistent with specific effects in certain groups. CONCLUSIONS: While our results are epidemiological in nature and cannot conclusively prove mechanisms, we identified a number of patterns that are consistent with specific mechanisms. In many cases those mechanisms are strongly supported by available literature on the associated genes.

Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center.

OBJECTIVE: To assess the correlation between Z-scores of positive noninvasive prenatal testing (NIPT) results and the positive predictive value (PPV) of NIPT. METHODS: Pregnancies with positive NIPT results at Guangzhou Women and Children's Medical Centre between July 2017 and May 2020 were included in this study. Fetal karyotyping or microarray analysis was provided to patients with abnormal NIPT results for confirmatory testing. Logistic regression analyses was applied to study the relationship between the Z scores and the PPV performance. The optimal cutoff values for indicating fetal common trisomies were obtained based on receiver operating characteristic (ROC) curve analysis, and then the PPV were calculated in pregnancies with positive NIPT results at Z-score greater than or equal to cutoff value and in patients with a Z-score between 3 and cutoff value respectively. RESULTS: A total of 214 pregnancies with positive NIPT results for fetal common trisomies were validated by invasive prenatal diagnosis and follow up in this study. Of these, NIPT indicated trisomy 13 in 25 cases, trisomy 18 in 54 cases and trisomy 21 in 135 patients. Logistic regression analyses showed a significant association (p < 0.05) between the Z-scores and true positive results for T21 and T18. For T13, the significant association was not observed (p > 0.05). The ROC curve analysis showed that the optimal cutoff Z-score for indicating fetal trisomies 13, 18, and 21 were 6.889, 7.574 and 6.612 respectively, and the corresponding area under curve were 0.706, 0.916, and 0.954. In this cohort with abnormal NIPT results, the cutoff values revealed a sensitivity of 96.8% and a specificity of 90% for indicating trisomies 21, and a sensitivity of 88.9% and a specificity of 92.6% for trisomies 18. However, probably due to the sample size, the sensitivity and specificity for indicating trisomy 13 were lower (85.7% and 61.1%) than that for trisomies 21 and 18. The PPVs in pregnancies with positive NIPT results at Z-score greater than or equal to cutoff value were 99.18% (121/122) for trisomy 21, 92.31% (24/26) for trisomy 18 and 46.15% (6/13) for trisomy 13. In patients with a Z-score between 3 and cutoff Z-score, the PPV of NIPT for trisomies 21, 18, and 13 were 30.77% (4/13), 10.71% (3/28), and 8.33% (1/12) respectively. Moreover, by classifying Z scores as 3 ≤ Z < 5, 5 ≤ Z < 10, and Z ≥ 10, the majority of Z scores were above 10 with a PPV of 99% for T21 and just 5.2% were between 3 and 5 with a PPV of 14.3%. In contrast for T18, over a third of tests had Z scores between 3 and 5. The PPV in this group is just over 5%. CONCLUSIONS: The present results show that the PPV performance of NIPT for fetal trisomies 13, 18, and 21 are closely associated with Z-score. The higher the Z-score, the greater the likelihood that the aneuploidy result is correct. Our experience in evaluating the Z-score accuracy of NIPT in this study could be of use in similar work.

Behavioral Phenotyping for Down Syndrome in Mice.

Down syndrome (DS) is the most frequent genetic cause of intellectual disability, characterized by alterations in different behavioral symptom domains: neurodevelopment, motor behavior, and cognition. As mouse models have the potential to generate data regarding the neurological basis for the specific behavioral profile of DS, and may indicate pharmacological treatments with the potential to affect their behavioral phenotype, it is important to be able to assess disease-relevant behavioral traits in animal models in order to provide biological plausibility to the potential findings. The field is at a juncture that requires assessments that may effectively translate the findings acquired in mouse models to humans with DS. In this article, behavioral tests are described that are relevant to the domains affected in DS. A neurodevelopmental behavioral screen, the balance beam test, and the Multivariate Concentric Square Field test to assess multiple behavioral phenotypes and locomotion are described, discussing the ways to merge these findings to more fully understand cognitive strengths and weaknesses in this population. New directions for approaches to cognitive assessment in mice and humans are discussed. © 2020 Wiley Periodicals LLC. Basic Protocol 1: Preweaning neurodevelopmental battery Basic Protocol 2: Balance beam Basic Protocol 3: Multivariate concentric square field test (MCSF).

Systematic Review of Recent Pediatric Down Syndrome Neuropsychology Literature: Considerations for Regression Assessment and Monitoring.

OBJECTIVES: To conduct a systematic review of recent pediatric Down syndrome (DS) neuropsychology research that may be useful to clinicians and researchers examining regression in this population. METHODS: We reviewed original peer-reviewed articles published between 2013 and 2018 studying neuropsychological profiles in DS. RESULTS: Thirty-one articles (of 1231 included in the original search) passed all inclusion criteria, were evaluated for bias, and were included in the analysis. CONCLUSION: Findings argued against a single "DS profile" and revealed multiple within-group differences as well as expected and unexpected differences relative to typically developing children and children with other intellectual and developmental disabilities. Areas identified as most germane to regression monitoring included working memory, inhibition, letter and word identification, navigational route learning, motor skills (when strong at baseline), single word receptive/expressive vocabulary, and adaptive function.

Estudo do metaboloma salivar e sua associação com a doença periodontal em pacientes com síndrome de Down / Saliva metabolome in patients with Down syndrome and its association with periodontal disease

Os pacientes com Síndrome de Down (SD) possuem grande incidência de doença periodontal (DP), caracterizada por um curso precoce e com maior severidade. O estudo de metaboloma pode contribuir para o entendimento deste curso da doença, identificando possíveis metabólitos como biomarcadores nestes indivíduos. Para entender o perfil metabolômico dos indivíduos com síndrome de Down e a sua relação com a doença periodontal, realizamos a identificação de metabólitos salivares de adolescentes e adultos jovens, entre 12 e 21 anos, ambos os gêneros. Foram coletados dados sobre o estado geral de saúde e realizados exames clínicos bucais, como índice de higiene oral simplificado, sangramento e profundidade de sondagem. Para a análise do metaboloma foi coletada amostra de saliva não estimulada, analisadas por meio de cromatografia gasosa acoplada á espectrometria de massas. Saliva e fluido crevicular gengival também foram coletados para identificação microbiana através do MALDI-TOF. Os dados encontrados foram submetidos a análise estátisca por meio da Análise dos Componentes Principais (PCA) e quantificação relativa dos metabólitos foi avaliada por testes não paramétricos, Mann-Whitney

e Kruskal-Wallis. Foi possível observar através dos modelos de PCA separação dos indivíduos com SD e controles, independente da doença periodontal. A quantificação relativa revelou maiores níveis de glicina, lprolina, l-leucina, l-serina, ácido palmítico, ácido pentanóico, ácido tetradecanóico, tirosina e l-fenilalanina nos grupos SD quando comparados aos controles. Controles com DP também apresentaram níveis elevados de glicina, l-alanina, l-serina e manopiranose quando comparados com controles saudáveis. A microbiota de indivíduos com SD apresentous diferenças siginificantes em relação aos individuos controles, principalmente para Rothia dentocariosa, Staphylococcus epidermidis, Tannerella forsythia quando avaliado a saliva e A. Actinomycetemcomitans, Micrococcus luteus, Rothia aeria, Treponema denticola no fluido crevicular gengival. Em conclusão, o perfil metabolômico impresso nos indivíduos com SD difere significativamente dos indivíduos controles, independente da doença periodontal. Entretanto, os metabólitos que diferenciam indivíduos controles com e sem DP, apresentam-se elevados em todos indivíduos com SD, promovendo novos "insights" para o perfil metabólico relacionado a DP na SD.

Down Syndrome (DS) patients have a high incidence of periodontal disease (PD), characterized by an early course and greater severity. The metabolome study may contribute to the understanding of the disease course, identifying possible metabolites as biomarkers in these individuals. To understand the metabolomic profile of the DS and their relationship with PD, we conducted the identification of salivary metabolites of adolescents and young adults between 12 and 21 years, both genders. Data were collected on general health and was performed oral clinical examination, as the IHOS, bleeding index and probing depth. For metabolome analysis was collected unstimulated saliva sample, analyzed by gas chromatography coupled to mass spectrometry. Saliva and gingival crevicular fluid were also collected for microbial identification by MALDI-TOF. Data were submitted to analysis-statistic by PCA and relative quantification

of metabolites was evaluated by Mann-Whitney and Kruskal-Wallis tests. It can be observed through the PCA models separation of DS groups and controls groups, regardless of periodontal disease. Relative quantification showed higher levels of glycine, L-proline, L-leucine, L-serine, palmitic acid, pentanoic acid, tetradecanoic acid, tyrosine and L-phenylalanine in the SD groups when compared to controls groups. Controls with PD also showed high levels of glycine, L-alanine, L-serine and mannopyranose compared with healthy controls. The microbiota of individuals with DS groups show significant differences compared to control groups, especially for Rothia dentocariosa, Staphylococcus epidermidis, Tannerella forsythia when evaluated saliva and A. actinomycetemcomitans, Micrococcus luteus, Rothia aeria, Treponema denticola in gingival crevicular fluid. In conclusion, the printed metabolomic profile in individuals with Down syndrome differs significantly from control subjects, regardless of periodontal disease. However, the metabolites that distinguish controls group with and without PD, show up high in all DS individuals, promoting new "insights" to the metabolic profile related to PD in DS.

Variability of the aging process in dementia-free adults with Down syndrome.

The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. Each participant was assessed on cognitive functioning and social adaptation, and was checked for the presence of psychopathological disorders. Results revealed an age-related deterioration in both cognitive and social adaptation skills, the extent of this decline depending on the dimension under scrutiny, and interindividual variability in aging profiles.

La habilidad visuo-espacial en el síndrome de Down: ¿es realmente un punto fuerte? Resumen de un meta-análisis / No disponible

El síndrome de Down muestra serios problemas en las habilidades verbales y relativamente mejores habilidades visuo-espaciales. A menudo se considera a la habilidad visuo-espacial como un punto fuerte o fortaleza en el síndrome de Down. Sin embargo, no está claro si se trata de una fortaleza sólo en comparación con sus habilidades verbales, o, lo que sería más impactante, en relación con su capacidad cognitiva en general. Para responder a esta cuestión, hemos realizado una extensa revisión de los estudios sobre habilidades visuoespaciales en las personas con síndrome de Down, desde enero de 1987 a marzo de 2013. Basándonos en la taxonomía general de las habilidades espaciales y en los estudios existentes sobre el síndrome de Down, hemos incluido cinco dominios diferentes de habilidades espaciales: la memoria visuo-espacial, la construcción visuoespacial, la rotación mental, el cierre gestáltico y la selección de un camino o senda. Hemos evaluado un total de 49 trabajos que han incluido 127 estudios diferentes comparaciones. La mayoría de ellas utilizaban un grupo con síndrome de Down vs. un grupo con desarrollo normal pero de la misma edad mental, enfrentados los dos a una misma tarea que medía una de las cinco habilidades visuo-espaciales. Aunque se necesita realizar más estudios para llegar a conclusiones firmes sobre algunas de estas habilidades, no se apreció evidencia alguna de que la habilidad visuo-espacial constituya un punto fuerte en el síndrome de Down cuando se la compara con la habilidad cognitiva general. Más bien, la revisión sugiere un perfil variable de habilidades visuo-espaciales en el síndrome de Down, en la que algunas de ellas guardan correspondencia con a las del nivel cognitivo, mientras que otras se Encuentra por debajo de dicho nivel

Down syndrome (DS) is associated with extreme difficulty in verbal skills and relatively better visuo-spatial skills. Indeed, visuospatial ability is often considered strength in DS. However, it is not clear whether this strength is only relative to the poor verbal skills, or, more impressively, relative to cognitive ability in general. To answer this question, we conducted an extensive literature review of studies on visuo-spatial Abilities in people with Down syndrome from January 1987 to May 2013. Based on a general taxonomy of spatial abilities and existing studies of DS, we included five different domains of spatial abilities - visuo-spatial memory, visuo-spatial construction, mental rotation, closure, and wayfinding. We evaluated a total of 49 studies including 127 different comparisons. Most comparisons involved a group with DS vs. a group with typical development matched on mental age and compared on a task measuring one of the five visuo-spatial abilities. Although further research is needed for firm conclusions on some visuo-spatial abilities, there was no evidence that visuo-spatial ability is a strength in DS relative to general cognitive ability. Rather, the review suggests an uneven profile of visuo-spatial abilities in DS in which some abilities are commensurate with general cognitive ability level, and others are below

Revised medical criteria for evaluating congenital disorders that affect multiple body systems. Final rule.

We are revising the criteria in the Listing of Impairments (listings) that we use to evaluate cases involving impairments that affect multiple body systems in adults and children under titles II and XVI of the Social Security Act (Act). The revisions reflect our program experience and address adjudicator questions we have received since we last comprehensively revised this body system in 2005. We do not expect any decisional differences due to the revisions in this body system.

Down syndrome diagnosis based on Gabor Wavelet Transform.

Down syndrome is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It has different facial symptoms. These symptoms contain distinctive information for face recognition. In this study, a novel method is developed to distinguish Down Syndrome in a custom face database. Gabor Wavelet Transform (GWT) is used as a feature extraction method. Dimension reduction is performed with Principal Component Analysis (PCA). New dimension which has most valuable information is derived with Linear Discriminant Analysis (LDA). Classification process is implemented with k-nearest neighbor (kNN) and Support Vector Machine (SVM) methods. The classification accuracy is carried out 96% and 97,34% with kNN and SVM methods, respectively. Different from the studies related with the Down Sydrome, feature selection process is applied before PCA according to the correlation between components of feature vectors. Best results are achieved with euclidean distance metric for kNN and linear kernel type for SVM. In this way, we developed an efficient system to recognize Down syndrome.

Perfil da função respiratória de crianças portadoras de Síndrome de Down na faixa etária de 5 a 12 anos / Respiratory function profile in 5-12 years old children with Down Syndrome

A Síndrome de Down (SD) é uma condição genética, cuja incidência é de 1: 700 nascidos vivos, caracterizada pela presença de um cromossomo extra no par 21 que leva o portador a apresentar uma série de características clínicas destacando-se em particular a hipotonia muscular. Isso se constitui fator colaborativo para o déficit de força muscular de tronco, que, por sua vez, resulta na perda de força da musculatura respiratória. Estudos prévios com adolescentes e adultos sinalizaram que tal debilidade reduz a mobilidade torácica, a capacidade respiratória e propicia maior susceptibilidade às infecções. O objetivo deste estudo foi traçar o perfil da função respiratória em crianças de 5 a 12 anos portadoras de Síndrome de Down. 20 crianças portadoras de Síndrome de Down, de ambos os gêneros, foram submetidas a um protocolo de avaliação do sistema respiratório: inspeção e palpação do tórax, cirtometria torácica, força muscular respiratória (Pimax e Pemax)e pico de fluxo expiratório (PFE). Paralelamente, foi aplicado um questionário/entrevista aos responsáveis, referente à investigação sobre a ocorrência de doenças associadas, condições sociais e familiares desses indivíduos. Na manovacuometria foram encontrados valores de PImax e PEmax médios de (-28,75 ± 1 0,24 cm H2O) e (37,35 ± 11,87 cm H2O), respectivamente, e PFE de (126,25 + 46,70 l/min), tais valores estavam significativamente (p < 0,001) abaixo dos preditos na literatura. Além disso, encontrou-se grande hipotonia da musculatura abdominal em 45 por cento da amostra, respiradores do tipo bucal em 60 por cento e infecções respiratórias de repetição em 40 por cento das crianças. A avaliação da função respiratória da amostra estudada produziu um perfil de crianças portadoras de SD entre 5 e 12 anos, além de revelar baixos valores de força muscular respiratória e PFE, em função da hipotonia muscular, inerente a SD.

Down syndrome (DS) is the most common chromosomal disorder, occurring in approximately one out of every 700 births. It is characterized by an extra chromosome in the 21st pair. There are a lot of clinical symptoms such as muscle hypotonia, which is a factor that reduce thoracic muscle force, resulting in a respiratory muscle weakness. Previous studies with adolescents and adults showed that there is a reduction of thoracic motion, respiratory capacity and, consequently, a higher susceptibility in developing respiratory infection. The aim of this study was to trace a respiratory function profile in children 5-12 years old with DS. Twenty children of both genders were submitted to an evaluation protocol of respiratory function: chest inspection and palpation, thoracic cirtometry, maximal respiratory pressures (PImax and PEmax), Peak Expiratory Flow (PEF). At the same time, a questionnaire was applied to child’s parent or legal guardian, to investigate family history, social and familiar conditions. Values of PImax and PEmax were (-28.75 ± 10,24 cm H2O) and (37.35 ± 11.87 cm H2O) respectively and PEF (126.25 + 46.70 l/min), these values were significant (p < 0,001) below values predicted in literature. In addition, it was found an abdominal muscle hypotonia in 45 percent of the sample, mouth breathing in 60 percent and repetitive respiratory disease in 40 percent of the children. The evaluation of respiratory function of the studied sample produced a profile of children aged between 5-12 with DS and also revealed low values of muscle force and PEF, due to muscle hypotonia, inherent to DS.

The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.

Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a potential "threshold" effect due to trisomic imbalance, lymphocyte and buccal mucosa nuclei were scored using FISH. Overall, buccal cells showed a significantly higher frequency of trisomy than lymphocytes (P < 0.0001). Using latent class analysis, two phenotypic classes were identified based on the clinical findings of the propositi. Patients from class 1 had significantly fewer traits and a lower percentage of trisomic cells (mean of 37.3% lymphocytes; 34.5% buccal mucosa cells) when compared to those stratified into class 2 (54.0% lymphocytes; 53.4% buccal mucosa cells). Tissue-specific influences were also detected, with buccal mucosa trisomy levels being significantly correlated with IQ (P = 0.0094; both ectodermal derivatives), while congenital heart defects were significantly correlated with lymphocytes (P = 0.0286; both mesodermal embryonic derivatives). In conclusion, allowing for the distinction of two groups, we observed variation in phenotype, associated with the percentage of trisomic cells. We also observed tissue-specific effects on phenotype. The results of this study should enable geneticists and other health care professionals to provide information regarding optimal diagnostic approaches and anticipated clinical outcomes.

Current use of medical eponyms--a need for global uniformity in scientific publications.

BACKGROUND: Although eponyms are widely used in medicine, they arbitrarily alternate between the possessive and nonpossessive forms. As very little is known regarding extent and distribution of this variation, the present study was planned to assess current use of eponymous term taking "Down syndrome" and "Down's syndrome" as an example. METHODS: This study was carried out in two phases - first phase in 1998 and second phase in 2008. In the first phase, we manually searched the terms "Down syndrome" and "Down's syndrome" in the indexes of 70 medical books, and 46 medical journals. In second phase, we performed PubMed search with both the terms, followed by text-word search for the same. RESULTS: In the first phase, there was an overall tilt towards possessive form - 62(53.4%) "Down's syndrome" versus 54(46.6%) "Down syndrome." However, the American publications preferred the nonpossesive form when compared with their European counterpart (40/50 versus 14/66; P < 0.001). In the second phase, PubMed search showed, compared to "Down syndrome," term "Down's syndrome" yielded approximately 5% more articles. The text-word search of both forms between January 1970 and June 2008 showed a gradual shift from "Down's syndrome" to "Down syndrome," and over the last 20 years, the frequency of the former was approximately halved (33.7% versus 16.5%; P < 0.001). The abstracts having possessive form were mostly published from the European countries, while most American publications used nonpossesive form consistently. CONCLUSION: Inconsistency in the use of medical eponyms remains a major problem in literature search. Because of linguistic simplicity and technical advantages, the nonpossessive form should be used uniformly worldwide.

Estudo comparativo dos marcos do desenvolvimento motor das crianças com Síndrome de Down em relação à escala evolutiva de Denver II / Comparative study of motor milestones development of children with Down syndrome in relation to Denver II scale

Objetivo: Esta pesquisa tem como objetivo comparar os marcos motores das crianças com Síndrome de Down (SD) em relação à escala de Denver II. Métodos: Foram incluídas na pesquisa as crianças com diagnóstico de SD, de ambos os sexos, com faixa etária menor que 18 meses e que participavam do programa de intervenção precoce na Associação dos Pais e Amigos dos Excepcionais (APAE), Maceió/AL, sendo excluídas as que não possuíam diagnóstico de SD, maiores de 18 meses e as que abandonaram o programa. Participaram da pesquisa 12 crianças. Foi realizada a coleta de dados e a avaliação do desenvolvimento das crianças utilizando a Escala de Denver II. Após o período de acompanhamento, as crianças foram divididas em dois grupos e posteriormente se fez uma correlação entre os fatores de risco e a presença de atraso no desenvolvimento. Os dados foram analisados por meio das estatísticas descritiva e analítica e do Teste de Fischer cujo nível de significância foi de 5 por cento. Resultados: Verificou-se o alcance nos marcos motores objetivados em 66,66 por cento, sendo a média de idade de aquisição de 5,5 meses, 11,11 meses, 13 meses e 23 meses, respectivamente para a aquisição do controle de cabeça, do sentar, ficar de pé e andar em relação à escala de Denver II. Conclusão: Há a existência de um atraso nas aquisições motoras das crianças com SD em relação à Escala de Denver II, mesmo quando submetidas à intervenção precoce, porém ele pode ser minimizado principalmente quando ocorre uma participação efetiva dos pais na terapia, freqüência regular e início precoce do tratamento.

Objective: The aim of this research was to compare children’s motor milestones with Down Syndrome (DS) in relation to Denver II scale. Methods: This research was composed by children with clinic diagnosis of DS, both gender, age group below 18 months who were participating to a precocious intervention program carried out in the Association of Parents and Friends of Disabled Individuals (APAE), Maceió/AL. Children with no diagnosis of DS, above 18 months and those who abandoned the program were excluded. After a period of follow-up, the children were divided into two groups and then a correlation between risk factors and development delay was observed. Data was analyzed based on a descriptive and analytical statistics and Fischer test with significance level of 5 percent. Results: It was observed the range of motor milestones in 66.66 percent and average age of acquisition 5.5 months, 11.11 months, 13 months and 23 months, respectively for the acquisition of head control, sitting down, standing up and walking according to Denver’s II scale. Conclusion: We conclude that children with SD exhibit motor delay in relation to Denver’s II scale, even when they are submitted to the precocious intervention, but can be minimized specially when parents participate effectively during therapy, regular periodicity and start treatment earlier.

Maternal serum screening in cases of mosaic and translocation Down syndrome.

OBJECTIVES: To determine if the second-trimester maternal serum markers (MSM) screening for Down syndrome (DS) is efficient in DS mosaicism or structural rearrangement cases. METHOD: DS mosaic or translocation cases were reviewed from databases of routine MSM DS screening. The control group consisted of 977 trisomy 21 cases included in a series of 854 902 patients (routine screening). DS risk was calculated by combination of maternal age and MSM [alpha-fetoprotein (AFP) and human choriogonadotrophin (hCG) or free beta-hCG and/or uE3] expressed in multiples of median (MoM). Mosaic DS cases were divided into three groups, < 10%, 10-49%, and >or= 50% trisomy 21 cells. Translocation DS cases were divided into three groups, isochromosome, Robertsonian, or reciprocal translocation. Detection rate (DR) and MoMs were evaluated in each group. RESULTS: As many as 76 cases of nonstandard trisomy 21 were collected. For mosaic DS cases (n = 43) DR was 69.8% (not significantly different from the 70.8% of control group). When mosaicism was less than 10%, the DR dropped to 25%. For translocation DS cases (n = 33) DR was 75.7% (not significantly different from control group) whatever the types of translocation. CONCLUSION: In the nonstandard DS cases, second-trimester MSMs gave the same detection rate as for standard trisomy 21, except the cases with low-level mosaicism (<10%).

A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms.

OBJECTIVE: To replicate the factor structure and predictive validity of revised Autism Diagnostic Observation Schedule algorithms in an independent dataset (N = 1,282). METHOD: Algorithm revisions were replicated using data from children ages 18 months to 16 years collected at 11 North American sites participating in the Collaborative Programs for Excellence in Autism and the Studies to Advance Autism Research and Treatment. RESULTS: Sensitivities and specificities approximated or exceeded those of the old algorithms except for young children with phrase speech and a clinical diagnosis of pervasive developmental disorders not otherwise specified. CONCLUSIONS: Revised algorithms increase comparability between modules and improve the predictive validity of the Autism Diagnostic Observation Schedule for autism cases compared to the original algorithms.