Down Syndrome Children Research Articles

Gross motor deficits in cerebral palsy, autistic spectrum disorder, mental retardation, and Down syndrome children: A prevalence study

Introduction: Gross motor skills are those which require the movement of the whole body and the involvement of the core stabilizing muscles of the body so as to perform activities of daily living and gross motor deficits refer to the lack of this coordination of muscles. Purpose: This study was conducted to contribute to the researches on gross motor coordination to provide systemic and appropriate physiotherapy guidance in children with motor deficits. Materials and Methods: We assessed the gross motor deficits in four different groups of children – cerebral palsy (CP), autism spectrum disorder (ASD), mental retardation (MR), and Down syndrome (DS), using the Charlop-Atwell scale. Forty children – 10 from each of these groups – were assessed. All children were between the ages of 6 years and 17 years. After the filling of these details and having received the consent of the child's guardian, they were asked to perform 6 different activities. These activities or categories were assessed both subjectively and objectively, and score was given on the basis of the Charlop-Atwell scale. These scores were then analyzed to get the results and draw conclusions. Results: The percent of motor deficits of CP was 65.56% followed by ASD, MR, and DS having 57.76%, 55.26%, and 38.98% motor deficits. Conclusion: CP showed the highest and DS children showed the lowest percent of motor deficits. There was a significant difference among the groups (P = 0.042).

Acute Leukemia in Down Syndrome Children, A Morroccan Retrospective Review

Children with Down syndrome (DS) are at higher risk of developing acute leukemia and has been recognized to have unique clinical features and significant differences in treatment response and toxicity profiles compared to patients without Down syndrome. One of the challenges faced in treating children with Down syndrome and leukemia is balancing curative therapy against potential toxicities. A retrospective review of the clinical features, treatment outcomes of DS children with acute leukemia was conducted in the Center for Pediatric Hematology and Oncology in rabat child hospital.(CHOP) from 2006 to 2016. This review included a total of 30 patients with DS. Ten were diagnosed with acute lymphoblastic leukemia and 20 had acute myeloid leukemia (AML). This study points out that investigators will have to carefully assess the balance between the antileukemic efficacy and treatment-related mortality of current chemotherapy regimens. Several studies are currently in progress that will answer some of the many questions raised in this field.

Gene Expression Profiles and Methylation Analysis in Down Syndrome Related Acute Lymphoblastic Leukemia

BackgroundChildren with Down syndrome (DS), which caused by an extra copy of chromosome 21, are predisposed to develop acute lymphoblastic leukemia (ALL). On the other hand, in non-DS children, acquisition of chromosome 21 gain is observed in 95% of hyperdiploid (HD) ALL, which is the most common cytogenetic abnormality pattern in childhood ALL. These may suggest that gain of chromosome 21 relates molecular pathogenesis of ALL. Genetic aberrations of RUNX1 locus on chromosome 21 including iAMP21 or t(12; 21)(p13; q22)/ETV6-RUNX1 were often found in pediatric ALL. While recent studies implicated that HMGN1 or DYRK1A on chromosome 21 were associated with molecular pathogenesis of DS-ALL, it remains to be elucidated what predispose DS children to develop ALL. Compared with ALL of non-DS children, DS-ALL have uncommon genetic alterations such as mutations in JAK2 and RAS, mutations or overexpression of CRLF2. These suggest that DS-ALL may have unique biological features compared with ALL of non-DS children. Difference of biological basis between them may correlate to worse prognosis of DS-ALL. Although microarray transcript profiling provided some characteristic gene expression in DS-ALL, no study showed comprehensive transcriptome analysis in DS-ALL.PurposeThis study was conducted to elucidate comprehensive transcriptomic landscape in DS-ALL and to reveal biological features through clustering by gene expression profiling.MethodsOur cohort includes 72 pediatric B-cell precursor ALL samples (48 DS-ALL, 13 HD-ALL, and 11 euploid (EP) ALL). All HD-ALL samples gained chromosome 21. Three cases of DS-ALL and one case of EP-ALL had ETV6-RUNX1 rearrangement. We applied genome-wide analysis using whole-transcriptome sequencing (WTS) to 55 samples, Illumina 450k methylation array to 12 samples, and Illumina EPIC methylation array to 26 samples. For gene expression profiling, we conducted consensus clustering algorithms. Data from methylation arrays were normalized by beta-mixture quantile normalization and merged by common probes.ResultsOur consensus clustering analysis of gene expression stratified samples into three groups such as DS-ALL (cluster 1), DS-ALL and HD-ALL (cluster 2), and EP-ALL (cluster 3). Eight cases with DS-ALL having RAS mutations were classified into cluster 1. DYRK1A, HMGN1, ETS2 on chromosome 21 were highly expressed in cluster 1 and cluster 2 compared with cluster 3. Expression of RUNX1 was lower in cluster 1 and cluster 2 although it was not significant. In addition, FLT3, ELK1, and ETV6 were more highly expressed in cluster 1 and cluster 2 compared with cluster 3. Comparing cluster 1 with cluster 2, NRAS, MAP2K1, JUN, FOS, WT1, EPOR, and PDGFRB were highly expressed in cluster 1. Methylation analysis indicated that methylation pattern of DS-ALL was distinct from that of HD-ALL. Using methylation analysis, we detected differentially methylated regions (DMRs) between DS-ALL and HD-ALL. In DMRs of promoter-associated regions, RUNX1, IGF2BP1, and ETV6 were included. These genes were significantly hypermethylated in DS-ALL. Next, we elucidated methylation profiling of DS-ALL compared with HD-ALL and found hypermethylated genes in DS-ALL. Although these genes may participate pathogenesis of DS-ALL, we could not find any association of gene expression pattern.ConclusionWe identified specific gene expression profiling of DS-ALL and significantly upregulated genes in DS-ALL compared with HD-ALL and EP-ALL. Overexpression of these genes was characteristic gene profiling common to ALL with gaining extra chromosome 21. While ETS2, FLT3, ELK1, NRAS, MAP2K, JUN, FOS, and WT1 were highly expressed in AML, overexpression of these genes may also be related to pathogenesis of DS-ALL. In addition, DS-ALL highly expressed PDGFRB and EPOR, to which these genes are targetable by TKIs and may improve prognosis of DS-ALL. Intriguingly, RUNX1 was hypermethylated in DS-ALL compared with HD-ALL and EP-ALL, indicating that underexpression of RUNX1 was a unique gene profiling of DS-ALL and was due to hypermethylation of RUNX1. In DS patient, hyprmethylation of RUNX1 in their normal blood cells has been reported. This aberrant hypermethylation may be related to pathogenesis of DS-ALL. In this study, we unveiled gene expression profiling and methylation pattern of DS-ALL. However, to elucidate the whole picture of molecular pathogenesis of DS-ALL, we may need further analysis. DisclosuresKataoka:Yakult: Honoraria; Boehringer Ingelheim: Honoraria; Kyowa Hakko Kirin: Honoraria. Ogawa:Kan research institute: Consultancy, Research Funding; Sumitomo Dainippon Pharma: Research Funding; Takeda Pharmaceuticals: Consultancy, Research Funding.

Executive function and academic achievement in primary - grade students with Down syndrome.

Executive function (EF) plays a critical role in academic outcomes in typically developing children, but the contribution of EF to academic performance in Down syndrome (DS) is less well understood. This study evaluated differences in early academic foundations between primary school aged children with DS and non-verbal mental-age matched typically developing (TD) children. Additionally, the contribution of EF domains to academic outcomes was evaluated in each group. Participants with DS (n = 29) and mental-age matched TD participants (n = 23) were administered the Woodcock Johnson- III NU Tests of Academic Achievement, as well as a laboratory-based EF battery, including measures of working memory, shifting, inhibition and object-planning. Findings indicated a difference in early academic foundations profile between children with DS and mental-age matched TD children. Patterns of EF contributions towards academic outcomes were also observed across groups. Aspects of EF are critical to academic achievement in DS but differentially so relative to typical development. Implications for educational instruction are discussed.

Relationship between repetitive behaviour and fear across normative development, autism spectrum disorder, and down syndrome.

The present study had two aims: first to compare levels of restricted and repetitive behaviours (RRB) across two groups of typically developing (TD) children, and two disorders: Autism Spectrum Disorder (ASD) and Down syndrome (DS), and second to explore the relationship between fear and repetitive behaviours in these four groups. Parents of 41 offspring with ASD (Mage = 123.39 months, SDage = 27.67), 38 offspring with DS (Mage = 125.37 months, SDage = 45.71), 45 typically developing children matched to the mental age (MA) of the DS group (TD MA; Mage = 51.13 months, SDage = 22.1), and 42 chronological age (TD CA; Mage = 117.93 months, SDage = 22.91) matched TD children, completed measures of RRB and fear. ANOVAs revealed differences across the four groups on the RRB subscale scores: "Just Right" F(3,162) = 16.62, P < 0.001; Rigid Routines F(3,162) = 52.76, P < 0.001; Sensory behaviours F(3,162) = 23.26, P < 0.001. Post-hoc comparisons revealed that children with ASD had the highest RRB levels followed by DS, TD MA, and TD CA children. In children with ASD, higher levels of fear were related to higher RRB levels. Similar, albeit less strong, patterns of associations was found among DS and TD MA children but not in older TD CA children. This study provided evidence of a fear-RRB association in children with ASD, DS, and two groups of TD children. Autism Res 2017, 10: 502-507. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P <0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (χ² = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.

Eyewitness recall and suggestibility in individuals with Down syndrome.

Many criminal justice professionals perceive the eyewitness skills of individuals with intellectual disabilities to be weaker than those of typically developing (TD) individuals. Down syndrome (DS) is one of the most common genetic causes of intellectual disabilities, yet there is no research addressing eyewitness skills in this population. This study examined the eyewitness recall and suggestibility of young people with DS. Young people with DS and mental age-matched TD children viewed a video of a non-violent petty crime and were subsequently asked to freely recall the event before being asked general and specific questions incorporating both misleading and non-leading prompts. Compared with mental age-matched TD individuals, young people with DS produced as much information, were just as accurate and were no more suggestible. The eyewitness memory skills of young people with DS are comparable to those of mental age-matched TD children. The implications of these findings for the forensic context and eyewitness memory are discussed.

Effect of Backward Walking Training on Improves Postural Stability in Children with Down syndrome

Background Motor intervention plays an important role in reducing the disabilities of Down syndrome (DS). A lack of balance and postural control has created motor problems in DS patients. Therefore, the aim of this study was to examine the effect of backward walking on postural stability of DS patients. Materials and Methods Sixteen DS children with 8-10 age range were selected by convenience sampling method and assigned to control and experimental groups. The experimental group performed backward walking training for 8 weeks (2 sessions per week, each session for 25 min). The dynamic postural stability of both groups was examined by Biodex stability system (general balance, medial collateral and anterior-posterior balance indexes) before, during and after the training (pretest, 4th week, 8th week and 18th week). To analyze the data and test the hypotheses, independent t test was used. Results The results of this study showed that the three balance indexes in the experimental group was drastically lower than the control group after 8 weeks of backward walking training (P˂0.01). In addition, significant differences could be observed in balance indexes even 10 weeks after the last session of the backward walking training (P˂0.05). Conclusion It seems that the findings of this study have confirmed the effect of backward walking training on the improvement of postural stability and Syndrome children with 8-10 age range can benefit from this method.

Children with Down syndrome: Clinical course and mortality-associated factors in a French medical paediatric intensive care unit.

To investigate clinical course and mortality-associated factors in children with Down syndrome (DS) managed in a medical paediatric intensive care unit. A single-centre, retrospective study conducted between 2001 and 2010 in DS children aged 1 month to 16 years. Sixty-six patients with a median age of 24 months (1-192) and a male/female ratio of 1.5 were analysed. Patients presented with history of congenital heart disease (n = 52, 78.8%), mechanical ventilation (n = 40, 60.6%) and chronic upper airway obstruction (n = 10, 15.1%). The primary reason for admission was respiratory failure (n = 56, 84.8%). Pulmonary arterial hypertension (PAH) (n = 19, 28.8%), acute respiratory distress syndrome (ARDS) (n = 18, 27.2%) and sepsis (n = 14, 21.2%) were observed during their clinical course. Twenty-six patients died (39.4%). Mortality-associated factors included the following: (i) baseline characteristics: history of mechanical ventilation, chronic upper airway obstruction and congenital heart disease; (ii) clinical course during paediatric intensive care unit stay: sepsis, catecholamine support, ARDS, PAH and nosocomial infection. In multivariate logistic analysis, history of mechanical ventilation, ARDS and PAH remained independently associated with death. The mortality rate in critically ill DS children admitted for medical reasons is high and is predominantly associated with respiratory conditions.

Altered immune parameters correlate with infection-related hospitalizations in children with Down syndrome

In addition to previously studied immunological variables, the relative expression of IFNGR2, IFNAR1, CD18, and CD275 (all encoded in chromosome 21) on circulating leucocytes and multifunctional T cells (evaluated by an intracellular cytokine/proliferation assay) were compared between children with Down syndrome (DS) and healthy controls (HC). As previously reported, numbers of lymphocytes, CD4+ T cells, Treg cells, B cells, and levels of serum IgM were decreased, and levels of IgG and IgA were increased in children with DS. Moreover, the relative expression of CD18 on T and B cells (previously and not previously reported, respectively) were elevated in DS children (p⩽0.01). Age and numbers of B and Treg cells moderately correlated with retrospectively identified infection related hospitalizations (rho: 0.300–0.460, p⩽0.003). Age and the numbers of Treg cells also correlated with prospectively identified infection related hospitalizations. Future studies are necessary to clarify the role of these parameters in the immunity of DS patients.

Human Embryonic Stem Cells in the Treatment of Patients With Down Syndrome: A Case Report

Down syndrome (DS) is a common chromosomal disorder caused by trisomy of chromosome 21 (HSA21q). Individuals with DS suffer from various congenital and progressive diseases. There is no standard treatment for DS. Due to overexpression of genes in trisomic cells, abnormal neuronal development and functional changes occur in the central nervous system of DS patients. The key deficiencies in neural stem and progenitor cell expansion lead to cognitive disabilities in DS. Human embryonic stem cells (hESCs) could serve as an expandable source for neurons production, which could be applied for the treatment of various diseases affecting brain. In this article, we report a case of DS patient treated with hESC therapy. A DS child had delayed milestones, with no speech, subnormal understanding and subnormal motor skills. Following the treatment, patient showed remarkable changes and improvement in the clinical conditions such as better understanding, improved muscle tone of limbs and ability to recognize near ones. hESC therapy was found to be beneficial in the treatment of DS. Further studies are needed to understand the clinical utility of hESC therapy in the patients with DS. J Med Cases. 2016;7(4):123-125 doi: http://dx.doi.org/10.14740/jmc2455w

Infantile Nystagmus and Abnormalities of Conjugate Eye Movements in Down Syndrome.

Subjects with Down syndrome (DS) have an anatomical defect within the cerebellum that may impact downstream oculomotor areas. This study characterized gaze holding and gains for smooth pursuit, saccades, and optokinetic nystagmus (OKN) in DS children with infantile nystagmus (IN). Clinical data of 18 DS children with IN were reviewed retrospectively. Subjects with constant strabismus were excluded to remove any contribution of latent nystagmus. Gaze-holding, horizontal and vertical saccades to target steps, horizontal smooth pursuit of drifting targets, OKN in response to vertically or horizontally-oriented square wave gratings drifted at 15°/s, 30°/s, and 45°/s were recorded using binocular video-oculography. Seven subjects had additional optical coherence tomography imaging. Infantile nystagmus was associated with one or more gaze-holding instabilities (GHI) in each subject. The majority of subjects had a combination of conjugate horizontal jerk with constant or exponential slow-phase velocity, asymmetric or symmetric, and either monocular or binocular pendular nystagmus. Six of seven subjects had mild (Grade 0-1) persistence of retinal layers overlying the fovea, similar to that reported in DS children without nystagmus. All subjects had abnormal gains across one or more stimulus conditions (horizontal smooth pursuit, saccades, or OKN). Saccade velocities followed the main sequence. Down syndrome subjects with IN show a wide range of GHI and abnormalities of conjugate eye movements. We propose that these ocular motor abnormalities result from functional abnormalities of the cerebellum and/or downstream oculomotor circuits, perhaps due to extensive miswiring.

Beliefs Toward Social and Cognitive Competences in People with Down Syndrome

The inclusion of a person with intellectual disability, such as Down Syndrome (DS), depends not only on the skills of the person himself, but also on the attitude that other persons have to him. Most of the studies that focused on the attitude towards people with DS did not thoroughly investigate the beliefs on the competences of people with DS. Our aim is to identify the commonly held beliefs towards the social and cognitive competences of people with DS. Specifically, we want to verify if there are any differences among the beliefs held by parents of Typical Development (TD) children, parents of people with DS and people without children. A second aim is to evaluate a possible association between the level of knowledge about the Syndrome and related positive beliefs. 363 subjects from 18 to 70 years old (M = 37.56; S.D. = 14.73) were recruited. The sample was divided in three different groups: 1) subjects with TD children; 2) subjects with DS children and 3) subjects without children. An ad hoc self-report questionnaire was administered. Results show that people with Down Syndrome are considered more competent in terms of motor skills, but less competent in social skills. The level of knowledge of the Syndrome correlates positively with beliefs in all competences. There are differences in beliefs between the three groups: parents with DS children have more positive beliefs about all skills, especially as regards the socialization. Knowing the beliefs on the skills of DS people can be very useful, in order to improve inclusiveness of those with DS.

KEJADIAN CACAT PADA ANAK USIA 24 - 59 BULAN DAN FAKTOR-FAKTOR YANG BERKAITAN, RISKESDAS 2010

The objective of the analysis is to determine the factors that associated with Down Syndrome (DS), Cerebral Palsy (CP) and other disabilities (blind, deaf, speech impaired, physically disabled, ormentally disabled). The data that used in this analysis were from Basic National Health Survey (Riskesdas) 2010. Subjects were children aged 24-59 months and their birth mother (11.115 children). Nine defect children had been found from West Java Province in 2010 were verified by visiting to their home. In Indonesia, the prevalence of DS, CP and other defects were respectively 0,07%; 0,05%; and 0,39%. Mothers who gave birth above 35 years old have risk of having a DS child 4,8 times (CI: 1,225 to 20,265; p=0,034) than mothers who gave birth at and below 35 years old. Mothers who live in a slum area have risk of having other defect children 2,1 times(CI: 1,225 to 4,109; p=0,021) than mothers who not live in slum area. Maternal age at delivery is associated with DS. Living environment is associated with other defects. Counseling to pregnant women aged ≥ 35 years old and living in a rundown neighborhood in order to antenal care every month so that the incidence of DS and other defects can be prevented.

Acute Leukemia in Down Syndrome Children in Hong Kong: Retrospective Review.

Children with Down syndrome (DS) are at higher risk of developing acute leukemia. Treatment continues to evolve as we accumulate better understanding of the distinctive clinical and biological features of acute leukemia in DS patients. A retrospective review of the clinical features, treatment outcomes, and survival of DS children with acute leukemia in Hong Kong from 1993 to 2013 was conducted. Patients were identified from the registry of the Hong Kong Pediatric Hematology and Oncology study group. This cohort included a total of 29 patients with DS. Ten were diagnosed with acute lymphoblastic leukemia and 19 had acute myeloid leukemia (AML). The mean follow-up duration was 8.3 years (range, 0.6 mo to 18.1 y). The 5-year overall survival and event-free survival for DS-acute lymphoblastic leukemia and DS-AML were 65.6%, 54.9%, 89.5%, and 89.5%, respectively. The clinical characteristics and treatment outcomes of DS patients with acute leukemia in Hong Kong were comparable with results from other international study groups. Patients with DS-AML had a better prognosis.

Analysis of Downs syndrome with molecular techniques for future diagnoses.

Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel’s laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual’s genome. Apart from this next generation sequencing and whole genome sequencing also contribute for identifying the disease marker. From this review, the suggestion was to perform the WES is DS children to identify the marker region.

The Study of Apolipoprotein E4 Allele Distribution in Parents of Down’s Syndrome Children as a Risk Factor in Khorasan Razavi Province, Iran

Backgrounds: Down syndrome (DS) is the most common chromosomal abnormality. The most important factor in DS is increased maternal age so after the age of 35, the risk of Down syndrome in pregnancy increases. Down syndrome can be diagnosed during pregnancy by prenatal screening. Nondisjunction in cell divisions is the main cause of the DS. Apo lipoprotein E is a 317 amino acid glycoprotein that plays an essential role in metabolism and cholesterol transport. Alzheimer’s disease (AD) is one of the symptoms of adults with DS. The apoE allele e4 has been identified as a risk factor for AD and also, played a main role in nondisjunction. An increased risk of AD in mothers of adults with DS has been reported. We hypothesized that young mothers of DS children (<35 age) could have an increased frequency of apoE allele E4 so we studied apoE allele distribution in cases of trisomy 21 and their parents. In present study, we investigated association of 112 codon of APOE gene C/T and 158 codon of APOE gene C/T with DS children and their parents in Northeast of Iran (Khorasan Razavi Provence). Methods: In this case-control study, 33 DS children and their parents were compared in case of age with 90 families without any history of DS. Genotyping was performed by ARMS-PCR technique. Statistical analysis was performed by SPSS v.21 software. Results: It indicated that there is a significant difference in allele distribution between case and control groups. The C allele for 112 codon of APOE gene and the C allele for 158 codon of APOE gene may associate with nondisjunction. In 112 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.000006, OR = 2.66, 95% CI = 1.74 - 4.06). In 158 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.0000, OR = 3.89, 95% CI = 2.38 - 6.34). E4 allele frequency in mothers of DS is about 14% more than those in control group. According to results of this study the C allele in 158 codon of APOE gene and the C allele in 112 codon of APOE gene could be considered as susceptibility genetic factors for nondisjunction in Northeast of Iran.

Human Embryonic Stem Cells in the Treatment of Patients With Down Syndrome: A Case Report

Down syndrome (DS) is a common chromosomal disorder caused by trisomy of chromosome 21 (HSA21q). Individuals with DS suffer from various congenital and progressive diseases. There is no standard treatment for DS. Due to overexpression of genes in trisomic cells, abnormal neuronal development and functional changes occur in the central nervous system of DS patients. The key deficiencies in neural stem and progenitor cell expansion lead to cognitive disabilities in DS. Human embryonic stem cells (hESCs) could serve as an expandable source for neurons production, which could be applied for the treatment of various diseases affecting brain. In this article, we report a case of DS patient treated with hESC therapy. A DS child had delayed milestones, with no speech, subnormal understanding and subnormal motor skills. Following the treatment, patient showed remarkable changes and improvement in the clinical conditions such as better understanding, improved muscle tone of limbs and ability to recognize near ones. hESC therapy was found to be beneficial in the treatment of DS. Further studies are needed to understand the clinical utility of hESC therapy in the patients with DS. J Med Cases. 2016;7(4):123-125 doi: http://dx.doi.org/10.14740/jmc2455w

Cytogenetic study of down syndrome in Algeria: Report and review

Background: Down syndrome (DS) is the most common type of chromosomal trisomy found in newborn. It is associated with mental retardation and characteristic facial features. A clinical diagnosis of DS may be unconfirmed in one-third of cases. Objective: This study was conducted to confirm the clinical diagnosis of suspected cases with DS by a cytogenetic analysis and to evaluate several risk factors associated with trisomy 21 in a group of patients from West region of Algeria, Tlemcen. Materials and Methods: Karyotype analysis was carried out for 22 patients with the clinical diagnosis of DS. GTG-band and RTG-band have been made according to the standard protocols. Results: Among the 22 cases with DS, free trisomy 21 was presented in 20 cases (91%). One case (4.5%) had translocation DS. One other case had mosaic DS. There was an excess of male than female; sex ratio was 1.75:1. The mean maternal age at birth of the affected children was 36.27 ± 7.59 years. It was significantly higher than this of mothers of nontrisomic children (27.83 ± 6.34 years; P = 0.0002). Higher parity was an important risk factor associated with trisomy 21, 81% of affected children were of last or second last birth order. Paternal age and consanguinity had no effect. Conclusion: The identification of specific types of chromosomal abnormalities in DS children is very significant. It greatly helped in the management of these children and to make aware the affected families about the recurrence risk and the options available.

Differential Expression of Inflammation-Related Genes in Children with Down Syndrome.

Objective. The aim of the study was to investigate the expression patterns of a specific set of genes involved in the inflammation process in children with Down Syndrome (DS) and children without the syndrome (control group) to identify differences that may be related to the immune abnormalities observed in DS individuals. Method. RNA samples were obtained from peripheral blood, and gene expression was quantified using the TaqMan® Array Plate Human Inflammation Kit, which facilitated the investigation into 92 inflammation-related genes and four reference genes using real-time polymerase chain reaction (qPCR). Results. Twenty genes showed differential expression in children with DS; 12 were overexpressed (PLA2G2D, CACNA1D, ALOX12, VCAM1, ICAM1, PLCD1, ADRB1, HTR3A, PDE4C, CASP1, PLA2G5, and PLCB4), and eight were underexpressed (LTA4H, BDKRB1, ADRB2, CD40LG, ITGAM, TNFRSF1B, ITGB1, and TBXAS1). After statistically correcting for the false discovery rate, only the genes BDKRB1 and LTA4H showed differential expression, and both were underexpressed within the DS group. Conclusion. DS children showed differential expression of inflammation-related genes that were not located on chromosome 21 compared with children without DS. The BDKRB1 and LTA4H genes may differentiate the case and control groups based on the inflammatory response, which plays an important role in DS pathogenesis.