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Down Syndrome (down + syndrome)
Kinds of Down Syndrome Terms modified by Down Syndrome Selected AbstractsPerspective: chromosomal aneuploidy in leukemia,lessons from down syndromeHEMATOLOGICAL ONCOLOGY, Issue 1 2006Shai Izraeli Abstract Abnormal number of chromosomes, aneuploidy, is the most common abnormality in leukemia and cancer. However, the casual relationship between aneuploidy and cancer is unclear. Additional copies of chromosome 21 are frequently found in leukemic cells. Constitutional trisomy 21 that characterizes Down Syndrome is associated with markedly increased risk for childhood leukemia. In this perspective I review recent studies that suggest that constitutional trisomy 21 promotes leukemic transformation during fetal hematopoiesis. As most of childhood leukemias arise in-utero, these studies are of general relevance to sporadic childhood leukemias. Copyright © 2005 John Wiley & Sons, Ltd. [source] Attention and Vigilance in Children with Down SyndromeJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 6 2008Kim L. Trezise Background, Down syndrome (DS) has been the focus of much cognitive and developmental research; however, there is a gap in knowledge regarding sustained attention, particularly across different sensory domains. This research examined the hypothesis that children with DS would demonstrate superior visual rather than auditory performance on a sustained attention task and that this modality difference would not be seen in children with non-specific intellectual disability (NSID). Materials and Methods, Eleven children with DS and 16 children with NSID were compared on two versions of the sustained attention to response test (SART), varying only in presentation modality (visual or auditory). Errors of commission (failure to withhold response to target) and errors of omission (failure to respond to non-target distractors) were recorded. Results, Significant group differences were found in the visual modality and mental age was also found to effect error rates in the visual condition. No effect of group or mental age was observed in the auditory SART. Conclusions, Results suggest that, for individuals with DS, presentation of education material in a visual medium may facilitate sustained attention and thus learning. Further research using tools such as the SART to explore modality differences in sustained attention and additional cognitive domains is recommended. [source] Selective Abortion for Down Syndrome: The Relation Between the Quality of Intergroup Contact, Parenting Expectations, and Willingness to TerminateJOURNAL OF APPLIED SOCIAL PSYCHOLOGY, Issue 3 2010Karen L. Lawson This study examines the links between familiarity with individuals with Down syndrome (DS), perceptions of parenting a child with DS, and willingness to consider selective termination subsequent to a fetal diagnosis of DS. Within a sample of childless young adults (N = 280), those reporting personal familiarity indicated both more positive attitudes toward parenting a child with DS and more certainty that they would not abort following a prenatal diagnosis. In further support of contact theory, the quality of the past intergroup interactions moderated these findings. The potential role of negative stereotypes in selective-abortion decision making and implications for prenatal counseling protocols are discussed. [source] Executive function in adolescents with Down SyndromeJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 4 2010S. Lanfranchi Abstract Background The present work is aimed at analysing executive function (EF) in adolescents with Down Syndrome (DS). So far, EF has been analysed mainly in adults with DS, showing a pattern of impairment. However, less is known about children and adolescents with this syndrome. Studying adolescents with DS might help us better understand whether performances on EF tasks of individuals with DS are determined by age or by Alzheimer disease, as some studies suggest, or whether their performances are directly related to DS cognitive profile. Method A battery of EF tasks assessing set shifting, planning/problem-solving, working memory, inhibition/perseveration and fluency, as well as a tasks assessing sustained attention has been administered to a group of 15 adolescents with DS and 15 typically developing children matched for mental age. All EF tasks were selected from previous studies with individuals with intellectual disabilities or from developmental literature and are thought to be useful for the samples considered. Results The present results revealed that the group of individuals with DS performed at a significantly lower level on tasks assessing set shifting, planning/problem-solving, working memory and inhibition/perseveration, but not on the tasks assessing fluency. In addition, individuals with DS demonstrated a greater number of errors and less strategy use for the sustained attention task. Conclusions The results suggest a broad impairment in EF in adolescents with DS, and are consistent with several similar studies conducted with adults with DS. We assume that EF deficit is a characteristic of DS. [source] Fathers' play with their Down Syndrome childrenJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 6 2008S. De Falco Abstract Background In children with Down Syndrome (DS), as in other groups of special needs children, development depends crucially on the degree to which parents provide appropriate stimulation and effective support. The majority of recent studies investigating interactions between parents and children with DS have been conducted on mothers. Method Through observation of child solitary play, child collaborative play with their father, and father play with their child, the current study focused on paternal contributions to child play in association with the effective quality of father,child interactions. A total of 19 children (M chronological age = 35.32 months, SD = 10.35; M mental age = 19.58, SD = 5.43) with DS and their fathers participated in the study. Two 10-min sessions, of child solitary play and collaborative play with their father, were videorecorded. A coding system for exploratory and symbolic play was applied to both sessions, and the Emotional Availability (EA) Scales were independently applied to the collaborative play session as a measure of the effective quality of the father,child interaction. Results Children showed more symbolic play during collaborative sessions compared with solitary sessions. Bivariate correlations showed positive associations between father play and child exploratory and symbolic play. Cluster analysis identified dyads in low, medium and high EA groups, which differed in terms of each partner's play. Specifically, both fathers and children of high EA dyads were more likely to show more symbolic play and less exploratory play than those with low EA dyads. Conclusions Our findings enrich the theoretical perspective that dyadic interactions based on emotional involvement may lead to enhanced cognitive functioning in children with DS. [source] Vascular catheterization is difficult in infants with Down syndromeACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 1 2009D. S. SULEMANJI Background: Our aim was to compare difficulties in vascular access interventions in infants with and without Down Syndrome (DS) undergoing congenital heart surgery. Methods: The anesthesia records of infants with DS undergoing congenital heart surgery (Group DS, n=61) were reviewed and matched with records of infants without DS (Group ND, n=61). Vascular cannulation sites, the experience of the anesthesiologists performing each procedure, the number of clinicians who attempted each procedure until it was successfully performed, and the number of attempts for each catheterization were recorded. Results: The rate of unsuccessful peripheral venous cannulation in any of the four extremities was higher in Group DS (P=0.026). The success rate of radial artery cannulation was lower in Group DS (P=0.048). Although the total number of attempts for arterial cannulation was higher in Group DS, the difference was not statistically significant (P=0.058). However, in Group DS, the clinician who was able to cannulate the artery successfully required a significantly higher number of attempts at cannulation (P=0.011). For central venous catheterization, cannulation site and the number of attempts required before success was achieved were similar in both groups. The specialist-to-resident ratio was higher in Group DS (P=0.037). Conclusion: Our results indicate a trend toward clinicians having more difficulty performing arterial and peripheral venous catheterizations in infants with DS compared with performing the same procedure in infants without DS. Anesthesiologists should be prepared for catheterization difficulties in this patient population. In infants with DS, we recommend that catheterizations be performed by more experienced physicians. [source] Design and Implementation of a Multicenter Trial of Vitamin E in Aging Individuals with Down SyndromeJOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES, Issue 2 2005Paul S. Aisen Abstract, Older individuals with Down syndrome have an extremely high risk of Alzheimer's disease (AD). Advances in understanding the pathophysiology of AD, and the development of effective therapies for individuals with sporadic AD, have raised the possibility that aging Down syndrome individuals may benefit from therapy directed against AD. As no prior large clinical trials had been conducted with this population, the authors launched "A Multicenter Trial of Vitamin E in Aging Individuals with Down Syndrome." The authors describe how they assembled an international group of investigators to develop the infrastructure and methodology for studying the efficacy of therapeutic interventions aimed at slowing the process of AD in Down syndrome. The process of designing and implementing the trial drew together clinical scientists and clinicians from two distinct but overlapping areas: researchers in the areas of Down syndrome and AD therapeutics. The authors review the issues considered and decisions made regarding various aspects of the trial design. [source] Generalized Lichen Nitidus, with Perioral and Perinasal Accentuation, in Association with Down SyndromePEDIATRIC DERMATOLOGY, Issue 1 2009MICHELLE HENRY M.S. We report the third such case, with unusual perioral and perinasal accentuation. [source] The "Consecutive Combined Test",using Double test from week 8 + 0 and Nuchal Translucency Scan, for first trimester screening for Down SyndromePRENATAL DIAGNOSIS, Issue 12 2006Kirsten Marie Schiøtt Abstract Objective To test the performance of the "Consecutive Combined Test", applied on a high-risk population. The classic "Combined Test" (Double test (DT) and Nuchal Translucency (NT) measurement on the same day at app. week 12) gives detection rates (DR) for Down syndrome (DS) of 80,90% for false positive rates (FPR) of 5%. In affected pregnancies, however, the low PAPP-A level is more pronounced, the earlier in pregnancy. Thus, we hypothesized that the Double Test could be taken as early as from week 8 + 0, without compromising the excellent performance of the Combined Test. This "Consecutive Combined Test" allows for a centralised laboratory function. Methods Inclusion criteria were maternal age > 35 years (80%) or a family history (20%). Double test was taken at a median gestational age (GA) = 10 weeks. NT was measured at GA = 11 + 0 , 13 + 6. A combined risk estimate of > 1:400 at birth was used as cut-off. Results 881 had the full test. Screen positive = 34. CVS with aneuploidy = 11 (6 trisomy-21, 5 others). FPR = 3.2%. Positive Predictive Value (PPV) = 17.6% for T-21. Conclusion The "Consecutive Combined Test" applied on a high-risk population seems to be highly efficient with a remarkably high PPV. Copyright © 2006 John Wiley & Sons, Ltd. [source] Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVSPRENATAL DIAGNOSIS, Issue 12 2006S. K. Allen Abstract Objectives QF-PCR analysis can be used as a rapid test to diagnose primary trisomy in prenatal samples. Mosaicism in CVS detected by QF-PCR has previously been reported; however, no case has so far been reported in which the QF-PCR result was completely discrepant to that of the karyotype analysis from a long-term culture. Methods A CVS, referred because of a high serum screening risk of 1:10 for Down Syndrome and 1:110 for Edwards Syndrome, was tested by QF-PCR analysis and chromosome analysis of cultured cells. Subsequent analyses were carried out on a follow-up amniotic fluid sample and foetal tissue samples. Results Conflicting results were obtained between QF-PCR analysis on two independent fronds from the chorionic villi and chromosome analysis on cultured CVS. Cytogenetic and molecular analysis on a subsequent amniotic fluid sample indicated trisomy 18 with no evidence of mosaicism. Analysis of follow-up tissue confirmed trisomy in a foetal skin sample and mosaicism for trisomy 18 in four placental sites tested. Conclusion We report here an apparently normal CVS QF-PCR result that was completely discrepant with the trisomy 18 positive karyotype result on long-term culture. This has important implications regarding our current testing protocol. Copyright © 2006 John Wiley & Sons, Ltd. [source] Down syndrome: Common otolaryngologic manifestations,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2006Sally R. Shott Abstract Otolaryngologic or ear, nose, and throat (ENT) problems are common in children with Down Syndrome (DS). This includes problems with chronic ear infections and chronic middle ear effusions with associated hearing loss, airway obstruction, and sleep apnea, as well as problems with chronic rhinitis and sinusitis. In addition, many of these ENT problems require surgical interventions, and there are special anesthesia considerations that need to be addressed in children with DS. These include subglottic stenosis, post-operative airway obstruction, and cervical spine concerns. As the care of children with DS has become more consistent and proactive, outcomes from the treatment of these ENT manifestations have improved. Aggressive interventions, both medical and surgical, have led to a decreased incidence of hearing loss, good control of the chronic rhinitis, and a better awareness of the incidence of sleep apnea and sleep-disordered breathing in individuals with DS. These common otolaryngologic manifestations of DS are reviewed with recommendations for ongoing care and monitoring. © 2006 Wiley-Liss, Inc. [source] Ear, Nose and Throat Disorders in Children With Down SyndromeTHE LARYNGOSCOPE, Issue 2 2003Ron B. Mitchell MD Abstract Objective To document the reasons for which children with Down syndrome were referred to a pediatric otolaryngology practice, the underlying causes for these referrals, and the complications of routine surgical therapy. Study Design The study is a retrospective review of children referred to the Pediatric Otolaryngology Clinic at the University of New Mexico Health Sciences Center (Albuquerque, NM) during a period of 2.5 years. Methods Data were collected on 55 parameters related to ethnicity, demographics, diagnosis, surgical therapy, complications, and systemic comorbid conditions. Results The ethnicity of the study population was predominantly Hispanic or Latino (62%). The majority of children (76%) were referred for upper airway obstruction. Obstructive sleep apnea and laryngomalacia were the most common disorders in these children. An otological disorder was diagnosed in 70% of the children. Complications occurred after 27% of procedures for insertion of pressure equalization (PE) tubes to treat recurrent otitis media. Systemic comorbid conditions were present in 93% of the children, and the most common was gastroesophageal reflux disease. Conclusions Obstructive sleep apnea and laryngomalacia were the most common reasons for referral of children with Down syndrome. Routine surgical procedures that required general anesthesia caused complications that are not common in other children. Treatment for systemic comorbid conditions should be considered as a component of therapy for otolaryngological disorders in children with Down syndrome. [source] Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF,PCR)ANNALS OF HUMAN GENETICS, Issue 5 2001V. CIRIGLIANO Rapid prenatal diagnoses of major chromosome aneuploidies have been achieved successfully using quantitative fluoresent PCR (QF,PCR) assays and small tandem repeat (STR) markers. Here we report the results of evaluating the use of previously untested X-linked STRs, (DXS6803) and (DXS6809), together with modified amelogenin (AMXY) sequences and the X22 marker that maps in the pseudoautosomal region PAR2 on the long arm of the X and Y chromosomes. These markers will allow prenatal diagnoses of sex chromosome aneuploidies such as 45,X (pure Turner Syndrome), 47,XXY and 47,XYY, while assessing the sex of the fetuses. Data are also presented concerning the difficulties associated with the evaluation of the frequencies of the various types of sub-populations of cells in amniotic fluid samples collected from fetuses with sex chromosome mosaicism. The results of evaluating the use of new markers for the rapid diagnosis of aneuploidies affecting chromosomes 21,18 and 13 are also presented. Three chromosome 21 specific STRs have been found to produce trisomic triallelic or diallelic patterns from all amniotic samples retrieved from fetuses with Down Syndrome. Since all samples tested were amplified and no false positive or negative results were observed, the present results confirm the diagnostic value of QF,PCR for the prenatal detection of major numerical chromosome disorders. [source] Lithium Restores Neurogenesis in the Subventricular Zone of the Ts65Dn Mouse, a Model for Down SyndromeBRAIN PATHOLOGY, Issue 1 2010Patrizia Bianchi Abstract Down syndrome (DS), a high-incidence genetic pathology, involves brain hypoplasia and mental retardation. Emerging evidence suggests that reduced neurogenesis may be a major determinant of brain underdevelopment in DS. To establish whether it is possible to improve neurogenesis in DS, Ts65Dn mice,the most widely used model for DS,and euploid mice were treated with control or lithium chow for 1 month. During the last 3 days animals received one daily injection of 5-bromo-2-deoxyuridine (BrdU),a marker of proliferating cells,and were sacrificed 24 h after the last injection. Neurogenesis was examined in the subventricular zone (SVZ), a region that retains a neurogenic potential across life. We found that Ts65Dn mice had less (,40%) BrdU+ cells than euploid mice, indicating severe proliferation impairment. Treatment with lithium increased the number of Brdu+ cells in both euploid and Ts65Dn mice. In the latter the number of Brdu+ cells became similar to that of untreated euploid mice. Our study shows that lithium is able to restore cell proliferation in the SVZ of the Ts65Dn mouse and point at treatments with mood stabilizers as a potential tool to improve neurogenesis in patients with DS. [source] Compulsive-like Behavior in Individuals with Down Syndrome: Its Relation to Mental Age Level, Adaptive and Maladaptive BehaviorCHILD DEVELOPMENT, Issue 2 2000David W. Evans This study examined the nature of repetitive, ritualistic, and compulsive-like behaviors in 50 typically developing children and 50 individuals with Down syndrome (DS), matched on mental age (MA; M = 59.72 months). Parents reported on their children's compulsive-like behaviors , including ritualistic habits , and perfectionistic behaviors, as well as their children's adaptive and maladaptive behaviors. Results indicated that children with DS show similar MA-related changes in compulsive-like behaviors compared to the MA-matched comparison group. Younger children (both typical and DS) exhibited significantly more compulsive-like behaviors than older children. In general, children with and without DS did not differ from each other in terms of the number of compulsive-like behaviors they engaged in, although participants with DS engaged in more frequent, more intense repetitive behaviors. Compulsive-like behaviors were differentially related to adaptive and maladaptive behaviors across the MA and mental retardation groups. The results extend the "similar sequence" model of development to the construct of compulsive-like behaviors, and also suggest that some repetitive behaviors may be among the behavioral phenotype of individuals with DS. [source] Epidemiology of Down syndromeDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 3 2007Stephanie L. Sherman Abstract Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in ,1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:221,227. [source] The next exclusion debate: Assessing technology, ethics, and intellectual disability after the human genome projectDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2007Kelly M. Munger Abstract Recent scientific discoveries have made it much easier to test prenatally for various genetic disabilities, such as Down syndrome. However, while many observers have heralded such "advances" for their effectiveness in detecting certain conditions, others have argued that they perpetuate discrimination by preventing the birth of children with disabilities. This article examines the ethical and social implications of the Human Genome Project for individuals with intellectual disabilities and their families. It details the critique of prenatal testing articulated by many disability rights activists as well as scholarly and professional responses to that critique. A review of the pertinent research literature includes perspectives of genetic professionals, ethicists, disability studies scholars, parents of children with disabilities, and disabled individuals themselves. Finally, the article explores how future research endeavors, policies, and practices may more effectively integrate and respect the positions of these various stakeholders. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:121,128. [source] Language and communication development in down syndromeDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2007Joanne E. Roberts Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains,hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:26,35. [source] Language phenotypes and intervention planning: Bridging research and practiceDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2007Deborah J. Fidler Abstract This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication, and that intervention planning for children with each syndrome may take an approach informed by these profiles. Issues related to within-group variability, shared outcomes among syndromes, and the need for empirical validation for syndrome-specific recommendations are discussed. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007; 13:47,57. [source] Complementary and alternative therapies for Down syndromeDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2005Nancy J. Roizen Abstract In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy, and a host of other therapies such as massage therapy have been used. There is a lack of well-designed scientific studies on the use of alternative therapies in individuals with Down syndrome. Antioxidants hold theoretical promise for treatment of the cognitive, immune, malignancy, and premature aging problems associated with Down syndrome. Medications for treatment of Alzheimer's disease may also result in benefit for the population of individuals with Down syndrome. © 2005 Wiley-Liss, Inc. MRDD Research Reviews 2005;11:149,155. [source] Characterization of the cardiac phenotype in neonatal Ts65Dn miceDEVELOPMENTAL DYNAMICS, Issue 2 2008Austin D. Williams Abstract The Ts65Dn mouse is the most-studied of murine models for Down syndrome. Homology between the triplicated murine genes and those on human chromosome 21 correlates with shared anomalies of Ts65Dn mice and Down syndrome patients, including congenital heart defects. Lethality is associated with inheritance of the T65Dn chromosome, and anomalies such as right aortic arch with Kommerell's diverticulum and interrupted aortic arch were found in trisomic neonates. The incidence of gross vascular abnormalities was 17% in the trisomic population. Histological analyses revealed interventricular septal defects and broad foramen ovale, while immunohistochemistry showed abnormal muscle composition in the cardiac valves of trisomic neonates. These findings confirm that the gene imbalance present in Ts65Dn disrupts crucial pathways during cardiac development. The candidate genes for congenital heart defects that are among the 104 triplicated genes in Ts65Dn mice are, therefore, implicated in the dysregulation of normal cardiogenic pathways in this model. Developmental Dynamics 237:426,435, 2008. © 2007 Wiley-Liss, Inc. [source] Are the cognitive functions of children with Down syndrome related to their participation?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 1 2010TANYA RIHTMAN Aim, There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method, Sixty children (33 males, 27 females) with Down syndrome (age range 6,16y; mean age 9y 3mo, SD 28.8mo), who had received standard, holistic, early intervention, were assessed. Of these, 42 (70%) had congenital anomalies, 12 had severe congenital heart defects. Participants were assessed on measures of cognitive function (Beery,Buktenica Developmental Test of Visual,Motor Integration; Stanford,Binet Intelligence Scale) and participation (Vineland Adaptive Behaviour Scales). Results, No difference was found on any measure on the basis of severity of congenital anomaly. Results showed improvements in age-related body function and correlations between specific body functions and participation. No decline in IQ was found with age, and significant correlations between IQ and all other measures were noted. Although sex differences were found in the body functions of short-term memory and motor function, no difference in measures of activity performance and participation was found. Interpretation, Our findings emphasize the need for paediatric Down syndrome intervention to encourage improved body functions while emphasizing the acquisition of functional skills that enable enhanced participation in age-appropriate activities. [source] Exploring effects of different treadmill interventions on walking onset and gait patterns in infants with Down syndromeDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2007Jianhua Wu PhD Two cohorts of participants were included to investigate the effects of different treadmill interventions on walking onset and gait patterns in infants with Down syndrome (DS). The first cohort included 30 infants with DS (17 males, 13 females; mean age 10mo [SD 1.9mo]) who were randomly assigned to either a lower-intensity-generalized (LG) training group, or a higher-intensity-individualized (HI) training group. A control (C) group from another study, who did not receive treadmill training, served as the control (eight males, seven females; mean age 10.4mo [SD 2.2mo]). Mean age at walking onset was 19.2, 21.4, and 23.9 months for the HI, LG, and C groups respectively. At walking onset the HI group was significantly younger than the C group (p=0.011). At the gait follow-up that was conducted between 1 and 3 months after walking onset, three groups significantly different in overall gait patterns (p=0.037) were examined by six basic gait parameters including average velocity, stride length, step width, stride time, stance time, and dynamic base. Post-hoc analyses demonstrated that stride length was the gait parameter largely contributing to this overall group difference (p=0.033), and the HI group produced a significantly longer stride length than the C group (p=0.030). In conclusion, the HI treadmill intervention significantly promoted earlier walking onset and elicited more advanced gait patterns (particularly in stride length) in infants with DS. [source] Surveillance of vision and ocular disorders in children with Down syndromeDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2007Elma Stephen MBBS MD MRCPCH Children with Down syndrome have a high prevalence of ocular disorders. The UK Down's Syndrome Medical Interest Group (DSMIG) guidelines for ophthalmic screening were locally implemented into a protocol that included neonatal eye examination by an opthalmologist and a comprehensive ophthalmological examination (cycloplegic refraction, ophthalmoscopy, and orthoptic assessement) by at least the age of 3 years, followed by preschool follow-up as indicated. We audited retrospectively surveillance for ocular disorders before and after the DSMIG-based guidelines were locally adopted in 1995. Results were compared for children born before and after the implementation of screening guidelines. A total of 81 children (43 females, 38 males) with Down syndrome were identified. After the DSMIG protocol, 34/36 children received a full ophthalmological examination in the neonatal period, compared with 9/27 children before 1995 (p<0.001). Neonatal screening resulted in the detection of cataracts in three infants. Mean age of first comprehensive ophthalmic screening outside the neonatal period was similar in the two groups (1y 6mo before guidelines vs 1y 9mo after), as were the proportion of children receiving preschool eye checks (27/30 before; 17/18 after). Overall, 65.7% children were screened in accordance with the guidelines, improving to 100% in recent years. At school age, 43% of the study population had significant refractive errors, with 27% having hypermetropia and astigmatism. Earlier prescription of glasses for refractive errors was seen (mean age 5y 6mo before guidelines; 3y 6mo after; p<0.001). Prevalence of other ocular disorders included strabismus (34/72, 47%), nasolacrimal duct obstruction (26/73, 35.6%), cataracts (5/64, 7.8%), and nystagmus (12/72, 16%). Establishment of the DSMIG-based local protocol has streamlined ocular surveillance. It is anticipated that this will improve developmental and functional outcomes in Down syndrome. [source] Weak hand preference in children with down syndrome is associated with language deficitsDEVELOPMENTAL PSYCHOBIOLOGY, Issue 3 2008M. A. Groen Abstract This study explores associations between language ability and hand preference in children with Down syndrome. Compared to typically developing children of the same age, children with Down syndrome showed weaker hand preference, were less consistent in the hand they used and also less willing to reach to extreme positions in contralateral space. Within the group of children with Down syndrome, those who showed a stronger or more consistent hand preference had better language and memory skills. This association could not be explained by differences in non-verbal cognitive ability or hearing loss. These findings are discussed within the theory of neurolinguistic development proposed by Locke [Locke (1997). Brain & Language, 58, 265,326]. © 2008 Wiley Periodicals, Inc. Dev Psychobiol 50: 242,250, 2008. [source] Judgements of facial and vocal signs of emotion in infants with down syndromeDEVELOPMENTAL PSYCHOBIOLOGY, Issue 8 2006Fernando Carvajal Abstract We address how adults perceive facial and vocal signs of emotions in infants with and without Down syndrome. A set of naturalistic data from infants with trisomy 21 and typically developing infants (joy expression of young infants, 3.8,4.4 months, and anger and neutral expressions of older infants, 6.8,12.8 months) was rated by adult judges categorically or dimensionally. Facial signs alone, vocal signs alone, and both facial and vocal signs were presented for each expression. Raters were university students who did not have regular contact with infants, nor with people with mental retardation. Young infants' joy expressions were correctly recognized more frequently for typically developing infants than for infants with Down syndrome and, specifically, joy vocalizations in infants with Down syndrome were not identified. Facial signs were also more communicative than vocal signs in the case of older infants' anger and neutral expressions. These results are relevant to the way infant emotion is perceived by others, and may be particularly useful in facilitating interaction between adults and infants with Down syndrome. © 2006 Wiley Periodicals, Inc. Dev Psychobiol 48: 644,652, 2006 [source] The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal developmentEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 5 2008Barbara Hämmerle Abstract It is widely accepted that the neurological alterations in Down syndrome (DS) are principally due to modifications in developmental processes. Accordingly, a large part of the research on DS in recent years has focused on chromosome 21 genes that influence brain development. MNB/DYRK1A is one of the genes on human chromosome 21 that has raised most interest, due to its relationship with the brain functions that are altered in DS. Although a number of interesting experimental mouse models for DS are being developed, we still know little about the expression of Mnb/Dyrk1A during mouse brain development. Here, we report that Mnb/Dyrk1A displays a rather dynamic spatio-temporal expression pattern during mouse central nervous system development. Our data indicate that Mnb/Dyrk1A is specifically expressed in four sequential developmental phases: transient expression in preneurogenic progenitors, cell cycle-regulated expression in neurogenic progenitors, transient expression in recently born neurones, and persistent expression in late differentiating neurones. Our results also suggest that the subcellular localization of MNB/DYRK1A, including its translocation to the nucleus, is finely regulated. Thus, the MNB/DYRK1A protein kinase could be a key element in the molecular machinery that couples sequential events in neuronal development. This rich repertoire of potential functions in the developing central nervous system is suitable to be linked to the neurological alterations in DS through the use of mouse experimental models. [source] Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome,Hirschsprung disease association,HUMAN MUTATION, Issue 5 2009Stacey Arnold Abstract Individuals with Down syndrome (DS) display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET+9.7 (rs2435357:C>T) at chromosome 10q11.2 is associated with HSCR in DS individuals both by transmission disequilibrium (P=0.0015) and case,control (P=0.0115) analysis of matched cases. Interestingly, the RET+9.7 T allele frequency is significantly different between individuals with DS alone (0.26±0.04), HSCR alone (0.61±0.04), and those with HSCR and DS (0.41±0.04), demonstrating an association and interaction between RET and chromosome 21 gene dosage. This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders. Hum Mutat 30:1,5, 2009. © 2009 Wiley-Liss, Inc. [source] The effects of early relational antecedents and other factors on the parental sensitivity of mothers and fathersINFANT AND CHILD DEVELOPMENT, Issue 1 2003Diane Pelchat Abstract This study examines the effect of early relational antecedents (ERA, i.e. the quality of parenting parents recalled receiving as children), parenting stress, marital stress, socio-economic factors and children's characteristics (gender and disability condition) on the parental sensitivity of mothers and fathers. The sample consisted of 116 mothers and 84 fathers of 117 eighteen month old children drawn from a larger longitudinal study on the adaptation of parents to a child with a disability. Thirty-four children were diagnosed with Down syndrome (DS), 51 with a cleft lip and/or palate (CLP), and 32 were non-disabled children. Multiple regression analyses reveal that mothers' sensitivity is best predicted by her level of education and family income, whereas fathers' sensitivity is best predicted by their ERA, marital stress, family income and the child's disability condition. Mothers with more education and a greater family income displayed a greater sensitivity to their children, as did fathers who perceive less marital stress, those with a greater family income and those who perceived their parents as less controlling. Also, fathers of children with DS displayed less sensitivity for their children than fathers of children with CLP or fathers of non-disabled children. These results concord with many studies about the importance of socio-economic factors, ERA, marital stress, parent's gender and children's factors in the understanding of parental sensitivity. Copyright © 2003 John Wiley & Sons, Ltd. [source] Play and emotional availability in young children with Down syndromeINFANT MENTAL HEALTH JOURNAL, Issue 2 2008Paola Venuti This study investigates mother,child interaction and its associations with play in children with Down syndrome (DS). There is consensus that mother,child interaction during play represents an important determinant of typical children's play development. Concerning children with DS, few studies have investigated mother,child interaction in terms of the overall emotional quality of dyadic interaction and its effect on child play. A sample of 28 children with DS (M age = 3 years) took part in this study. In particular, we studied whether the presence of the mother in an interactional context affects the exploratory and symbolic play of children with DS and the interrelation between children's level of play and dyadic emotional availability. Children showed significantly more exploratory play during collaborative play with mothers than during solitary play. However, the maternal effect on child symbolic play was higher in children of highly sensitive mothers relative to children whose mothers showed lower sensitivity, the former displaying more symbolic play than the latter in collaborative play. Results offer some evidence that dyadic emotional availability and child play level are associated in children with DS, consistent with the hypothesis that dyadic interactions based on a healthy level of emotional involvement may lead to enhanced cognitive functioning. [source] | |||||||||||||||||||||||||||||||||||||||||||