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MedWorm: Down's Syndrome



MedWorm.com provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in the Down's Syndrome category.



Last Build Date: Tue, 22 Mar 2016 05:55:18 +0100

 



Most Families Cherish a Child With Down Syndrome, Survey Finds

Mon, 21 Mar 2016 14:00:00 +0100

Only younger siblings struggled in some cases, which researchers said wasn't surprising (Source: The Doctors Lounge - Psychiatry)

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Down Syndrome Doesn't Mean Doom and Gloom for Families

Mon, 21 Mar 2016 13:52:57 +0100

Study released on World Down Syndrome Day shows the disease is not viewed as a curse.  (Source: U.S. News - Health)



Is Joe Sanderson the world's oldest man with Down's Syndrome?

Mon, 21 Mar 2016 11:53:39 +0100

Joe Sanderson was not expected to live beyond the age of 21. He marked the milestone of his 80th birthday with family and staff at his care home in Saltburn, North Yorkshire. (Source: the Mail online | Health)



Age-related DNA methylation changes in normal and osteoarthritis cartilage

Sun, 20 Mar 2016 18:07:32 +0100

Purpose: Epigenetic alterations are one of the common cellular hallmarks of aging. Several studies have identified CpG sites whose methylation levels change with age in different tissues, and DNA methylation at 353 ‘clock’ CpG sites can be used to calculate epigenetic age independently of tissue, cell type and disease status. Several human diseases are associated with accelerated epigenetic aging, including Down syndrome and obesity, and it has been hypothesised that the age-related loss of normal epigenetic control may be responsible for the late onset of common human diseases. (Source: Osteoarthritis and Cartilage)



Cell-free DNA

Sat, 19 Mar 2016 00:00:00 +0100

Cell-free fetal DNA screening for Down syndrome has gained rapid acceptance over the past few years with increasing market penetration. Three main laboratory methodologies are currently used: a massive parallel shotgun sequencing (MPSS), a targeted massive parallel sequencing (t-MPS) and a single nucleotide polymorphism (SNP) based approach. Although each of these technologies has its own advantages and disadvantages, the performance of all was shown to be comparable and superior to that of traditional first-trimester screening for the detection of trisomy 21 in a routine prenatal population. Differences in performance were predominantly shown for chromosomal anomalies other than trisomy 21. Understanding the limitations and benefits of each technology is essential for proper counseling to...



When I Picture Myself Being Included, I Don't See Myself Without My Disabilities

Thu, 17 Mar 2016 21:09:51 +0100

I want to live in a world where my existence is just accepted. I don't want to have to undergo drastic physical or neurological changes to be perceived as a normal part the world. When I imagine myself in an inclusive and accepting world, I see myself as me unchanged, still disabled but simply in a world where that does not matter. And yet this is not what people think I should see. This is evidenced by this video, produced for World Down Syndrome Day (March 21). In the video, a narrator talks about her life aspirations and goals while the actor Olivia Wilde lives them out. The implication is that the narrator cannot do those things for some reason. That reason is revealed at the end to be because she has Down Syndrome (DS). The narrator concludes with, "This is how I see myself, how do y...

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Parent-mediated interventions to promote communication and language development in children with down syndrome aged between birth and six years

Thu, 17 Mar 2016 12:16:42 +0100

The objectives are as follows: To systematically assess the evidence for parent-mediated interventions aimed at improving communication and language development in children with Down syndrome aged between birth and six years. As a secondary aim, we will examine the effects of the treatment on parental behaviour and responsivity. We will also assess the effects of the treatment on the children's non-verbal means of communicating and socialisation. (Source: Current Awareness Service for Health (CASH))



Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

Thu, 17 Mar 2016 00:00:00 +0100

Authors: Wilde L, Mitchell A, Oliver C Abstract Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings prov...



A comparison of salivary IgA in children with Down syndrome and their family members

Wed, 16 Mar 2016 00:00:00 +0100

(Source: Archives of Oral Biology)



Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome

Wed, 16 Mar 2016 00:00:00 +0100

To ascertain whether thyroxine (T4)-based screening programs for congenital hypothyroidism (initial measurement of total T4 [tT4] followed by thyroid stimulating hormone [TSH] measurement in patients with tT4 (Source: The Journal of Pediatrics)



Everyday memory in individuals with Down syndrome: Validation of the Observer Memory Questionnaire - Parent Form.

Wed, 16 Mar 2016 00:00:00 +0100

Authors: Spanò G, Edgin JO Abstract The memory profile of individuals with Down syndrome (DS) has mainly been examined through traditional laboratory tasks, often revealing substantial deficits in episodic and declarative memory. Little is known about the relation between memory abilities as measured in the laboratory versus naturalistic settings in this population, and no questionnaire assessments of everyday memory have been formally validated for this group. The current study's aims were twofold: 1) to describe the psychometric characteristics of a parent-reported everyday memory measure (the Observer Memory Questionnaire - Parent Form, OMQ-PF) in this population with known hippocampal and memory impairment (i.e., DS, ages 7-35 years), and 2) to determine if the measure has th...

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Role of DSCAM in the development of the spinal locomotor and sensorimotor circuits

Tue, 15 Mar 2016 00:00:00 +0100

Locomotion is controlled by spinal circuits that generate rhythm and coordinate left-right and flexor-extensor motoneuronal activities. The outputs of motoneurons and spinal interneuronal circuits are shaped by sensory feedback, relaying peripheral signals that are critical to the locomotor and postural control. Several studies in invertebrates and vertebrates have argued that the Down syndrome cell adhesion molecule (DSCAM) would play an important role in the normal development of neural circuits through cell spacing and targeting, axonal and dendritic branching, and synapse establishment and maintenance. Although there is evidence that DSCAM is important for the normal development of neural circuits, little is known about its functional contribution to spinal motor circuits. We show here...



Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM

Tue, 15 Mar 2016 00:00:00 +0100

Down syndrome cell adherence molecule (DSCAM) contributes to the normal establishment and maintenance of neural circuits. Whereas there is abundant literature regarding the role of DSCAM in the neural patterning of the mammalian retina, less is known about motor circuits. Recently, DSCAM mutation has been shown to impair bilateral motor coordination during respiration, thus causing death at birth. DSCAM mutants that survive through adulthood display a lack of locomotor endurance and coordination in the rotarod test, thus suggesting that the DSCAM mutation impairs motor control. We investigated the motor and locomotor functions of DSCAM2J mutant mice through a combination of anatomical, kinematic, force, and electromyographic recordings. With respect to wild-type mice, DSCAM2J mice displaye...



Prescribing, insurance changes get last-minute approval from Florida lawmakers

Mon, 14 Mar 2016 11:05:43 +0100

Florida lawmakers Friday approved measures that would expand the drug-prescribing powers of advanced registered nurse practitioners and address a controversial health-insurance issue known as "balance billing." In a flurry of maneuvering at the end of the annual legislative session, lawmakers also approved an insurance change that will benefit people with Down syndrome — an issue dear to Senate President Andy Gardiner, whose son has Down syndrome. Gardiner has made helping people with developmental… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)



Birth of a healthy child after pre-implantation genetic screening of embryos from sperm of a man with nonmosaic Down syndrome

Mon, 14 Mar 2016 00:00:00 +0100

(Source: Journal of Assisted Reproduction and Genetics)



Cost-Effectiveness of Old and New Technologies for Aneuploidy Screening

Mon, 14 Mar 2016 00:00:00 +0100

This article covers methodology and salient issues of cost-effectiveness. (Source: Clinics in Laboratory Medicine)

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Prevalence of overweight and obesity among students with intellectual disabilities in Taiwan: A secondary analysis

Mon, 14 Mar 2016 00:00:00 +0100

Conclusion The findings not only highlight the high prevalence of overweight/obesity but also stress the need for health promotion initiatives to address issues of overweight/obesity within this population. (Source: Research in Developmental Disabilities)



Retrospective Study of Obesity in Children with Down Syndrome

Mon, 14 Mar 2016 00:00:00 +0100

To assess whether children with Down syndrome in the US are at an increased risk for obesity, we determined the obesity prevalence and analyzed obesity development throughout childhood in a cohort of children with Down syndrome. In addition, we analyzed a comorbidity that is associated with Down syndrome and obesity, obstructive sleep apnea syndrome (OSAS). (Source: The Journal of Pediatrics)



World Down Syndrome Day: Down Syndrome in the Workplace

Sat, 12 Mar 2016 13:39:14 +0100

Campaign to celebrate World Down Syndrome Day on March 21, and awareness of how people with Down Syndrome can find employment (Source: Disabled World)



Health Highlights: March 10, 2016

Thu, 10 Mar 2016 08:53:19 +0100

Here are some of the latest health and medical news developments, compiled by the editors of HealthDay: Indiana Bill Would Ban Abortions for Genetic Birth Defects A bill to ban abortions due to genetic birth defects such as Down syndrome was passed... (Source: Drugs.com - Daily MedNews)



Indiana poised to ban abortions due to fetal defects

Thu, 10 Mar 2016 03:40:19 +0100

INDIANAPOLIS (AP) — Indiana is poised to become the second state to ban abortions sought because a fetus has a genetic abnormality such as Down syndrome under a measure headed to Gov. Mike Pence for approval. (Source: U.S. News - Health)

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MGHfC study finds positive attitudes prevail within families of people with Down syndrome

Tue, 08 Mar 2016 05:00:00 +0100

(Massachusetts General Hospital) A study from a research team led by a MassGeneral Hospital for Children physician finds that, within most families, the experience of having a member with Down syndrome is generally a positive one. (Source: EurekAlert! - Biology)



The polyphenols resveratrol and epigallocatechin-3-gallate restore the severe impairment of mitochondria in hippocampal progenitor cells from a down syndrome mouse model

Tue, 08 Mar 2016 00:00:00 +0100

In this study, to gain insight into the possible role of mitochondria in DS intellectual disability, mitochondrial functions were analyzed in neural progenitor cells (NPCs) isolated from the hippocampus of Ts65Dn mice, a widely used model of DS which recapitulates many major brain structural and functional phenotypes of the syndrome, including impaired hippocampal neurogenesis. We found that, during NPCs proliferation, mitochondrial bioenergetics and mitochondrial biogenic program was strongly compromised in Ts65Dn cells, but not associated with free radical accumulation. These data point to a central role of mitochondrial dysfunction as an inherent feature of DS and not as a consequence of cell oxidative stress. Further, we disclose that, besides EGCG, also the natural polyphenol resverat...



Look At Me: Why Genetic Test Results Don't Tell the Full Story

Mon, 07 Mar 2016 17:48:24 +0100

I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome while she was pregnant with me. She is adamant she never would have aborted me. But today, pre-natal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS. Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual's life will be. A girl who has it -- like me -- can be happy, intelligent and highly successful. I wasn't diagnosed until I was 4. I was on the short side of average, but m...



When Baby Is Due, Genetic Counselors Seen Downplaying False Alarms

Mon, 07 Mar 2016 15:56:33 +0100

Maplewood, N.J. - Little Kate Summersgill certainly didn’t look like a child with Down syndrome — no upward slanting eyes or telltale flat facial features. Devon and Mike Summersgill had believed baby Kate was all but certain to be born with the intellect-stunting disorder because of a blood test Devon’s doctor recommended during her 2014 pregnancy. Even after the birth, when their baby looked fine, their genetic counselor, Laura Limone, insisted that the result of the test was not a mistake, Devon says. Only after the Summersgills agonized over Kate’s future and spent almost $2,000 more on another test were they satisfied that Limone was wrong — their baby was fine. And when they learned that Limone had a financial relationship with the company that makes the...



The polyphenols resveratrol and epigallocatechin-3-gallate restore the severe impairment of mitochondria in hippocampal progenitor cells from a down syndrome mouse model.

Mon, 07 Mar 2016 00:00:00 +0100

In this study, to gain insight into the possible role of mitochondria in DS intellectual disability, mitochondrial functions were analyzed in neural progenitor cells (NPCs) isolated from the hippocampus of Ts65Dn mice, a widely used model of DS which recapitulates many major brain structural and functional phenotypes of the syndrome, including impaired hippocampal neurogenesis. We found that, during NPCs proliferation, mitochondrial bioenergetics and mitochondrial biogenic program was strongly compromised in Ts65Dn cells, but not associated with free radical accumulation. These data point to a central role of mitochondrial dysfunction as an inherent feature of DS and not as a consequence of cell oxidative stress. Further, we disclose that, besides EGCG, also the natural polyphenol resverat...

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Enabling 2-wheeled cycling for youth with Down syndrome - Halayko J, Magill-Evans J, Smith V, Polatajko H.

Sun, 06 Mar 2016 23:34:32 +0100

PURPOSE: To study the effectiveness of cognitive orientation to daily occupational performance (CO-OP) to teach motor skills to youth with intellectual disabilities. METHODS: Six youth aged 12 to 19 years participated in this study. A multiple base... (Source: SafetyLit)



Genes and sex hormones interaction in neurodevelopmental disorders

Sat, 05 Mar 2016 00:00:00 +0100

Publication date: Available online 4 March 2016 Source:Neuroscience & Biobehavioral Reviews Author(s): Emilia Romano, Livia Cosentino, Giovanni Laviola, Bianca De Filippis The prevalence, age of onset and symptomatology of many neurodevelopmental disorders strongly differ between genders. This review examines sex biases in human neurodevelopmental disorders and in validated animal models. A focus is made on disorders of well-established genetic origin, such as Rett syndrome, CDKL5-associated disorders, Fragile X and Down syndrome. Autism is also addressed, given its paradigmatic role as a sex- biased neurodevelopmental disorder. Reviewed literature confirms that a complex interaction between genetic factors and sex hormones may underlie the differential susceptibility of gend...



Strength training versus chest physical therapy on pulmonary functions in children with Down syndrome

Fri, 04 Mar 2016 00:00:00 +0100

Conclusion Strength exercises to lower limb muscles are not effective as chest physical therapy on improving pulmonary functions in children with Down syndrome. (Source: Egyptian Journal of Medical Human Genetics)



Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.

Thu, 03 Mar 2016 00:00:00 +0100

The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical ...



The calcineurin inhibitor Sarah (Nebula) exacerbates A{beta}42 phenotypes in a Drosophila model of Alzheimer's disease [RESEARCH ARTICLE]

Wed, 02 Mar 2016 00:00:00 +0100

ABSTRACT Expression of the Down syndrome critical region 1 (DSCR1) protein, an inhibitor of the Ca2+-dependent phosphatase calcineurin, is elevated in the brains of individuals with Down syndrome (DS) or Alzheimer's disease (AD). Although increased levels of DSCR1 were often observed to be deleterious to neuronal health, its beneficial effects against AD neuropathology have also been reported, and the roles of DSCR1 on the pathogenesis of AD remain controversial. Here, we investigated the role of sarah (sra; also known as nebula), a Drosophila DSCR1 ortholog, in amyloid-β42 (Aβ42)-induced neurological phenotypes in Drosophila. We detected sra expression in the mushroom bodies of the fly brain, which are a center for learning and memory in flies. Moreover, similar to humans with A...

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Prevalence of Obstructive Sleep Apnea in Children with Down Syndrome

Tue, 01 Mar 2016 07:19:03 +0100

Conclusions: Based upon full night polysomnography, an overall 66.4% prevalence of OSA was found in children with Down syndrome. Even in those with a negative history for OSA, the prevalence was 53.8%. Younger age was associated with more severe disease. Citation: Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Prevalence of obstructive sleep apnea in children with Down syndrome. SLEEP 2016;39(3):699–704. (Source: Sleep)



Setting up a Nuchal Translucency Clinic: What Radiologists Need to Know

Tue, 01 Mar 2016 06:00:00 +0100

Abstract: The purpose of this article was to discuss the process of setting up a nuchal translucency (NT) screening clinic in clinical practice, how to interpret the information in combination with other clinical tests, what to do if abnormal results are obtained, and to illustrate some of the fetal anomalies that are associated with an increased NT. The NT was initially implemented to predict the likelihood of a fetus with Down syndrome. Maternal age can be combined with fetal NT and maternal serum biochemistry (free β-hCG and PAPP-A) at 11 to 14 weeks to identify about 90% of affected fetuses. Setting up a clinic to perform the NT screening requires certified physicians and certified sonographers. Certification can be obtained for both physicians and sonographers through Nuchal Transluc...



Partial BACE1 reduction in a Down syndrome mouse model blocks Alzheimer-related endosomal anomalies and cholinergic neurodegeneration: role of APP-CTF.

Tue, 01 Mar 2016 00:00:00 +0100

Authors: Jiang Y, Rigoglioso A, Peterhoff CM, Pawlik M, Sato Y, Bleiwas C, Stavrides P, Smiley JF, Ginsberg SD, Mathews PM, Levy E, Nixon RA Abstract β-amyloid precursor protein (APP) and amyloid beta peptide (Aβ) are strongly implicated in Alzheimer's disease (AD) pathogenesis, although recent evidence has linked APP-βCTF generated by BACE1 (β-APP cleaving enzyme 1) to the development of endocytic abnormalities and cholinergic neurodegeneration in early AD. We show that partial BACE1 genetic reduction prevents these AD-related pathological features in the Ts2 mouse model of Down syndrome. Partially reducing BACE1 by deleting one BACE1 allele blocked development of age-related endosome enlargement in the medial septal nucleus, cerebral cortex, and hippocampus and loss of cholin...



Delay of gratification: a comparison study of children with Down syndrome, moderate intellectual disability and typical development

Tue, 01 Mar 2016 00:00:00 +0100

ConclusionsChildren with Down syndrome appear to have a particular difficulty with delay of gratification. Language abilities would seem to be implicated in this difficulty, although further examination of this hypothesis is required. (Source: Journal of Intellectual Disability Research)



Investigating peer attitudes towards the use of key word signing by children with Down syndrome in mainstream schools

Tue, 01 Mar 2016 00:00:00 +0100

Conclusion: Overall, mainstream school peers demonstrated an understanding and an appreciation of the use of key word signing. However, the success of this approach within the school was limited by a number of challenges evinced by the school peers, including making the signs accurately and remembering their meanings. Given the important interactive role of the peers of a child with Down syndrome in a mainstream school setting, these challenges need to be addressed to optimise the use of key word signing and increase the likelihood of successful communication between children with Down syndrome and their peers. (Source: British Journal of Learning Disabilities)

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Video shows dad tearfully explains why son's Down syndrome is 'the most beautiful thing'

Mon, 29 Feb 2016 07:45:48 +0100

Robb Scott, 39, of Nova Scotia posted a video speaking up for his son and other children with Down syndrome after hearing a stranger call it 'an illness' - Robb totally disagrees. (Source: the Mail online | Health)



Dose–response relationship between intensity of exercise and cognitive performance in individuals with Down syndrome: a preliminary study

Mon, 29 Feb 2016 00:00:00 +0100

ConclusionsFuture research is needed to examine with a larger sample size, and more physiological measures are necessary to explore the underlying mechanisms in the relationship between exercise intensity and cognitive performance in individuals with Down syndrome. (Source: Journal of Intellectual Disability Research)



Prenatal reflex DNA screening for Down syndrome: enhancing the screening performance of the initial first trimester test

Sun, 28 Feb 2016 00:00:00 +0100

ConclusionAdding the specified markers to the Combined test can maintain or improve screening performance with a lower proportion of women reflexed. Our results can be used to determine the most cost‐effective reflex DNA screening policy. © 2016 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)



Gait dyspraxia as a clinical marker of cognitive decline in Down syndrome: A review of theory and proposed mechanisms.

Sat, 27 Feb 2016 00:00:00 +0100

Authors: Anderson-Mooney AJ, Schmitt FA, Head E, Lott IT, Heilman KM Abstract Down syndrome (DS) is the most common genetic cause of intellectual disability in children. With aging, DS is associated with an increased risk for Alzheimer's disease (AD). The development of AD neuropathology in individuals with DS can result in further disturbances in cognition and behavior and may significantly exacerbate caregiver burden. Early detection may allow for appropriate preparation by caregivers. Recent literature suggests that declines in gait may serve as an early marker of AD-related cognitive disorders; however, this relationship has not been examined in individuals with DS. The theory regarding gait dyspraxia and cognitive decline in the general population is reviewed, and potential ap...



Why this father says ‘Down syndrome is the best thing that ever happened to me’

Fri, 26 Feb 2016 13:30:44 +0100

During a recent trip to a store, Robb Scott overheard a little boy ask his father a simple question: "What is Down syndrome?" The boy's father told his son that it's an illness of "not knowing anything." Scott — the father of a 5-year-old with Down syndrome — wanted to correct the man's statement; but, […] (Source: Washington Post: To Your Health)

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'It is not an illness': Emotional moment dad tearfully explains why his five-year-old son's Down syndrome is 'the most beautiful thing' to happen to him and his family

Fri, 26 Feb 2016 03:51:57 +0100

Robb Scott, 39, of Nova Scotia posted a video speaking up for his son and other children with Down syndrome after hearing a stranger call it 'an illness' - Robb totally disagrees. (Source: the Mail online | Health)



Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination

Fri, 26 Feb 2016 00:00:00 +0100

Publication date: Available online 25 February 2016 Source:Neuron Author(s): Jose Luis Olmos-Serrano, Hyo Jung Kang, William A. Tyler, John C. Silbereis, Feng Cheng, Ying Zhu, Mihovil Pletikos, Lucija Jankovic-Rapan, Nathan P. Cramer, Zygmunt Galdzicki, Joseph Goodliffe, Alan Peters, Claire Sethares, Ivana Delalle, Jeffrey A. Golden, Tarik F. Haydar, Nenad Sestan Trisomy 21, or Down syndrome (DS), is the most common genetic cause of developmental delay and intellectual disability. To gain insight into the underlying molecular and cellular pathogenesis, we conducted a multi-region transcriptome analysis of DS and euploid control brains spanning from mid-fetal development to adulthood. We found genome-wide alterations in the expression of a large number of genes, ma...



Genomic analysis pinpoints a potential target for treatment of Down syndrome

Thu, 25 Feb 2016 17:01:00 +0100

A study of changes in the patterns of gene activity in the brains of people with Down syndrome reveals that the formation of the brain’s white matter is affected throughout life, a finding that suggests treatment might be possible for the condition that affects 400,000 Americans. (Source: Yale Science and Health News)



Gene Abnormality May Be Key to Down Syndrome, Scientists Say

Thu, 25 Feb 2016 17:00:00 +0100

Results might eventually lead to new treatments, study authors suggest Source: HealthDay Related MedlinePlus Pages: Down Syndrome, Genes and Gene Therapy (Source: MedlinePlus Health News)



Father's viral Down syndrome video promotes awareness, community says

Thu, 25 Feb 2016 11:00:00 +0100

An emotional video of a Truro father explaining what he's learned from having a son with Down syndrome has struck a chord with parents of special-needs children across Canada and around the world. (Source: CBC | Health)



Partial trisomy of chromosome 21 without the Down syndrome phenotype

Thu, 25 Feb 2016 00:00:00 +0100

We reported two prenatally‐detected cases of partial trisomy 21, and both were inherited from their healthy mothers and without DS phenotypes. These two segments of partial trisomy 21 may suggest copy number variants or minor phenotypes with variable penetrance in the regions of chromosome 21. Oligonucleotide‐based array CGH can be helpful in mapping high‐resolution segments of chromosome 21, and narrowing down the Down syndrome critical region (DSCR). (Source: Prenatal Diagnosis)



Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome?

Wed, 24 Feb 2016 00:00:00 +0100

ConclusionChildren with DS undergoing cardiac surgery during the first year demonstrated poorer neurodevelopmental outcomes as infants/toddler but had no difference at school age compared to children with DS without CHD. These results will guide early interventions to optimize neurodevelopmental outcomes in children with DS and will help with family counseling after CHD repair. (Source: Congenital Heart Disease)



Down syndrome screening information in midwifery practices in the Netherlands: Strategies to integrate biomedical information

Wed, 24 Feb 2016 00:00:00 +0100

The aim of this qualitative study was to analyse counselling with regard to prenatal screening in midwifery consultations in the Netherlands where a national prenatal screening programme has only existed since 2007, after years of social and political debates. The methodology is based on in situ observations of 25 counselling consultations in four midwifery practices in two main cities in the Netherlands. The results of this study show that, since midwives are obliged to offer information on Down syndrome screening to all pregnant women (2007), they have to deal with the communication of medical screening information using biostatistical concepts to explain risks, calculations, probabilities and chromosomal anomalies. In order to avoid the risk of medicalization of their consultation, midw...

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Evolution of myeloid leukemia in children with Down syndrome.

Wed, 24 Feb 2016 00:00:00 +0100

Authors: Saida S Abstract Children with Down syndrome (DS) have a markedly increased risk of leukemia. They are at particular risk of acute megakaryoblastic leukemia, known as myeloid leukemia associated with DS (ML-DS), the development of which is closely linked to a preceding temporary form of neonatal leukemia called transient abnormal myelopoiesis (TAM). Findings from recent clinical and laboratory studies suggest that constitutional trisomy 21 and GATA1 mutation(s) cause TAM, and that additional genetic alteration(s) including those in epigenetic regulators and signaling molecules are involved in the progression from TAM to ML-DS. Thus, this disease progression represents an important model of multi-step leukemogenesis. The present review focuses on the evolutionary process of...



Kenny Cridge aged 76 is the world's oldest man with Down's Syndrome

Tue, 23 Feb 2016 19:19:42 +0100

Like many people of his age with the condition, Kenny Cridge, from Somerset, was not expected to reach his teens. Staff at his care home describe him as a 'true gent'. (Source: the Mail online | Health)



Increased MTHFR promoter methylation in mothers of Down syndrome individuals

Tue, 23 Feb 2016 00:00:00 +0100

Publication date: Available online 22 February 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Fabio Coppedè, Maria Denaro, Pierpaola Tannorella, Lucia Migliore Despite that advanced maternal age at conception represents the major risk factor for the birth of a child with Down syndrome (DS), most of DS babies are born from women aging less than 35 years. Studies performed in peripheral lymphocytes of those women revealed several markers of global genome instability, including an increased frequency of micronuclei, shorter telomeres and impaired global DNA methylation. Furthermore, young mothers of DS individuals (MDS) are at increased risk to develop dementia later in life, suggesting that they might be “biologically older” than mothe...



Genetic testing of aetiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability

Mon, 22 Feb 2016 00:00:00 +0100

ConclusionImprovement can be made in clinical genetic assessment, but results generally support use of molecular karyotyping as first tier testing of cause of unknown intellectual disability in adults, as in the case for paediatric populations. The study highlights a necessary complementary role for clinical geneticists to interpret abnormal results. (Source: Internal Medicine Journal)



Auditory and visual sustained attention in Down syndrome

Sun, 21 Feb 2016 00:00:00 +0100

Conclusions and implications Ultimately, results suggested both auditory and visual SA match developmental level in DS. Further, SA generally predicts STM, though SA does not necessarily predict the pattern of poor auditory relative to visual STM characteristic of DS. (Source: Research in Developmental Disabilities)

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Frontal Lobe Degeneration in Adults with Down Syndrome and Alzheimer's Disease: A Review.

Fri, 19 Feb 2016 12:08:02 +0100

The objective of this study was to investigate the executive functions and changes in behavior associated with frontal lobe degeneration in individuals with Down syndrome who develop AD. We conducted a systematic review selecting studies employing cognitive assessments. SUMMARY: We identified few studies using objective measurements to determine whether cognitive aspects associated with the frontal lobe correlate with dementia in this population. We observed a tendency toward such correlations. Key Messages: There is a need for further studies in which objective measures of cognitive and behavioral factors are evaluated together with data related to brain function and morphology. PMID: 26891227 [PubMed - as supplied by publisher] (Source: Dementia and Geriatric Cognitive Disorders)



Contribution of post-mortem MRI to the evaluation of subtle renal anomalies in a first trimester foetus with Down syndrome.

Fri, 19 Feb 2016 10:55:03 +0100

Authors: Staicu A, Farcasanu AS, Caracostea G, Turcu RV, Simon S, Stamatian F PMID: 26467021 [PubMed - as supplied by publisher] (Source: Journal of Obstetrics and Gynaecology)



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

Fri, 19 Feb 2016 10:35:01 +0100

Conclusions: 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. (Source: Journal of Pediatric Hematology Oncology)



Frontal Lobe Degeneration in Adults with Down Syndrome and Alzheimer's Disease: A Review

Fri, 19 Feb 2016 10:19:33 +0100

The objective of this study was to investigate the executive functions and changes in behavior associated with frontal lobe degeneration in individuals with Down syndrome who develop AD. We conducted a systematic review selecting studies employing cognitive assessments. Summary: We identified few studies using objective measurements to determine whether cognitive aspects associated with the frontal lobe correlate with dementia in this population. We observed a tendency toward such correlations. Key Messages: There is a need for further studies in which objective measures of cognitive and behavioral factors are evaluated together with data related to brain function and morphology.Dement Geriatr Cogn Disord 2016;41:123-136 (Source: Dementia and Geriatric Cognitive Disorders)



A technical and clinical evaluation of a new assay for inhibin A and its use in second trimester Down syndrome screening

Fri, 19 Feb 2016 00:19:17 +0100

Journal Name: Clinical Chemistry and Laboratory Medicine (CCLM)Issue: Ahead of print (Source: Clinical Chemistry and Laboratory Medicine)

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Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

Fri, 19 Feb 2016 00:00:00 +0100

In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. (Source: Journal of Tropical Pediatrics)



Enabling 2-Wheeled Cycling for Youth With Down Syndrome.

Fri, 19 Feb 2016 00:00:00 +0100

CONCLUSIONS: The skills acquired by youth with Down syndrome using a CO-OP approach exceeded what has been reported in the literature. CO-OP offers a promising alternative to existing approaches for teaching 2-wheeled cycling to youth with Down syndrome. PMID: 26901535 [PubMed - as supplied by publisher] (Source: Physical Therapy)



Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain.

Thu, 18 Feb 2016 11:12:02 +0100

Authors: Lee HC, Tan KL, Cheah PS, Ling KH Abstract Trisomy of human chromosome 21 in Down syndrome (DS) leads to several phenotypes, such as mild-to-severe intellectual disability, hypotonia, and craniofacial dysmorphisms. These are fundamental hallmarks of the disorder that affect the quality of life of most individuals with DS. Proper brain development involves meticulous regulation of various signaling pathways, and dysregulation may result in abnormal neurodevelopment. DS brain is characterized by an increased number of astrocytes with reduced number of neurons. In mouse models for DS, the pool of neural progenitor cells commits to glia rather than neuronal cell fate in the DS brain. However, the mechanism(s) and consequences of this slight neurogenic-to-gliogenic shift in DS ...



Results of bilateral medial rectus recession for comitant esotropia in patients with developmental delay.

Thu, 18 Feb 2016 02:42:03 +0100

CONCLUSION: Surgical outcome in patients with developmental delay is very unpredictable. An exaggerated response to standard amounts of bimedial recession should be anticipated in these patients. Though there was no statistically significant difference, operating for 70.67%±17.95 angle of deviation is more likely to be successful. PMID: 24798741 [PubMed - indexed for MEDLINE] (Source: Strabismus)



Smad3 deficiency inhibits dentate gyrus LTP by enhancing GABAA neurotransmission

Thu, 18 Feb 2016 00:00:00 +0100

Abstract Transforming growth factor‐β signaling through intracellular Smad3 has been implicated in Parkinson's disease (PD) and it fulfills an important role in the neurogenesis and synaptic plasticity that occurs in the adult dentate gyrus (DG). The long‐term potentiation (LTP) induced in the DG by high‐frequency stimulation of the medial perforant pathway is abolished in the DG of Smad3‐deficient mice, but not in the CA1 hippocampal region. Here, we show that NMDA‐ and AMPA‐type glutamate receptors do not participate in the inhibition of LTP associated with Smad3 deficiency. Moreover, there is no difference in the hippocampal GAD65 and GAD67 content, suggesting that GABA biosynthesis remains unaffected. Increased conductance and higher action potential firing thresholds were...

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Down syndrome: perinatal mortality risks with each additional week of expectant management

Thu, 18 Feb 2016 00:00:00 +0100

ConclusionsAlthough further research is needed to clarify risk factors for fetal and neonatal death in cases of DS, risk of perinatal mortality appears to be minimized with delivery at 38 weeks. This article is protected by copyright. All rights reserved. (Source: Prenatal Diagnosis)



Down syndrome and hyperthyroidism - two case reports.

Thu, 18 Feb 2016 00:00:00 +0100

Authors: Szatkowska M, Zimny D, Barg E PMID: 26901142 [PubMed - as supplied by publisher] (Source: Pediatric Endocrinology, Diabetes, and Metabolism)



Differences of the anterior segment parameters in children with down syndrome.

Wed, 17 Feb 2016 23:36:02 +0100

CONCLUSION: The majority of the anterior segment parameters were found to be different in children with Down syndrome. While pupil size, corneal thickness, corneal volume and corneal curvature in DS were less than normal, iridocorneal angle, anterior chamber depth and anterior chamber volume were close to controls. The most important parametric differences in children with DS were seen on the cornea. PMID: 24797960 [PubMed - indexed for MEDLINE] (Source: Ophthalmic Genetics)



A Quantitative Summary of The Listening Program (TLP) Efficacy Studies: What Areas Were Found to Improve by TLP Intervention?

Wed, 17 Feb 2016 00:00:00 +0100

Abstract A quantitative summary of existing research examining the effects of The Listening Program (TLP) on various functions in children is presented. Nine studies were used, looking at TLP intervention effects across studies, within each study and for various outcome measures. The studies looked at TLP intervention on children with autism spectrum disorder, Down syndrome, learning disabilities, auditory processing disorders, attention deficit hyperactivity disorders, Rhett syndrome, dyspraxia, cerebral palsy, fibromyalgia, arthritis and stroke. The magnitude of the TLP effect size revealed a mean value of 0.41 across all studies. For each individual study, effect size ranged from 0.23 to 1.28. Two studies yielded significantly larger effect size than the other studies. One of these stud...



Debate surrounds state laws for down syndrome fact sheets

Wed, 17 Feb 2016 00:00:00 +0100

(Source: American Journal of Medical Genetics Part A)

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Overinflation of a King LT Extraglottic Airway Device Mimicking Ludwig’s Angina

Mon, 15 Feb 2016 06:00:00 +0100

In this report, we describe the case of a young female with Down syndrome who presented to the anesthesia service after pulseless electrical activity arrest with a King LT(S)-D extraglottic airway device in situ. She had multiple predictors of difficult intubation, including what appeared to be a submental mass consistent with Ludwig’s angina. She went on to receive an urgent tracheotomy because of those predictors but had full resolution of the submental mass on removal of the extraglottic airway device, which had been overinflated at the time of insertion. We outline the various techniques to establish a definitive airway with an extraglottic device in place. (Source: A&A Case Reports)



Parental stress in families of children with a genetic disorder/disability and the resiliency model of family stress, adjustment, and adaptation.

Sun, 14 Feb 2016 19:09:04 +0100

This study sought to model parental stress using the McCubbin and McCubbin (1993) Resiliency Model of Stress, Adjustment, and Adaptation using qualitative and quantitative data collected sequentially. Twenty-five parents of children with autism spectrum disorder, cerebral palsy, Down syndrome, and sickle cell disease participated in a 2-step study that encompassed qualitative followed by quantitative data ascertainment. RESULTS: Parents who quantitatively experienced high stress or low stress used different behavioral themes to describe their experience qualitatively. Positive appraisals, resources, and ability to engage in problem solving and coping were associated with family resiliency. PMID: 22250965 [PubMed - indexed for MEDLINE] (Source: Issues in Comprehensive Pediatric Nurs...



The celiac iceberg: from the clinical spectrum to serology and histopathology in children and adolescents with type 1 diabetes mellitus and Down syndrome.

Sun, 14 Feb 2016 15:25:02 +0100

CONCLUSIONS: The prevalence of GI symptoms was high in groups DM1 and DS, and the occurrence of such symptoms was associated with antibody positivity. The lack of association between the symptoms and histopatholological findings points to the inconsistency of the former as indicators of CelD. Although the GI form predominated among the cases with active CelD, its contribution to the celiac iceberg was smaller compared with the potential form, which determined the large and submerged base of the iceberg representing the high-risk groups investigated. PMID: 26339731 [PubMed - in process] (Source: Scandinavian Journal of Gastroenterology)



Derivation of trisomy 21 affected human embryonic stem cell line Genea021

Fri, 12 Feb 2016 00:00:00 +0100

Publication date: Available online 11 February 2016 Source:Stem Cell Research Author(s): Biljana Dumevska, Alexis Bosman, Robert McKernan, Heather Main, Uli Schmidt, Teija Peura The Genea021 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Trisomy 21, indicative of Down Syndrome. Following ICM outgrowth on inactivated human feeders, CGH and STR analysis demonstrated a 47, XY, +21 karyotype and male allele pattern. The hESC line had pluripotent cell morphology, 71% of cells expressed Nanog, 84% Oct4, 23% Tra1–60 and 95% SSEA4, gave a Pluritest Pluripotency score of 21.85, Novelty of 1.42, demonstrated Alkaline Phosphatase activity and tri-lineage teratoma formation. The cell line was negative for Mycoplasma and visibl...



Anxiety and depression symptomatology in adult siblings of individuals with different developmental disability diagnoses

Fri, 12 Feb 2016 00:00:00 +0100

In this study adult siblings of individuals with Down's syndrome (DS), autism (ASD), Prader-Willi syndrome (PWS) and those with DD but with unknown aetiology (DUA) were compared with each other and a closely-matched control group to ascertain if sibling disability type made a difference to anxiety and/or depression levels. Also considered was the interactive effect of gender, age, parental and sibling educational attainment levels, socio-economic status and birth order on anxiety and depression outcomes. With the exception of siblings of those with DS, adult siblings of those with ASD, PWS and DUA reported significantly higher levels of anxiety and depression than the control group. There were some predictive effects of the demographic variables upon anxiety and depression but none common ...

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Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia

Thu, 11 Feb 2016 22:22:54 +0100

We report a case here that during a period of six months, inferior vena cava first occluded, then become redundant in a baby girl with several chromosomal and gene defects, including Down syndrome and hereditary thrombophilia, admitted to our hospital due to the swelling and redness of the right lower extremity. From this observation, we propose that the absence of the inferior vena cave was not of embryonic origin but due to thrombosis. Published on 2016-02-08 16:23:34 (Source: Journal of the Belgian Society of Radiology)



Accuracy of reporting abortions with Down syndrome in England and Wales: a data linkage study

Thu, 11 Feb 2016 00:00:00 +0100

Conclusions The number of abortions of fetuses with Down syndrome reported by the NDSCR is more complete than that reported by the DH. DH data for abortions with other congenital anomalies are also likely to be underestimates, and more accurate estimates are available from BINOCAR regional congenital anomaly registers. (Source: Journal of Public Health)



Survival in Children With Down Syndrome Undergoing Single-Ventricle Palliation

Wed, 10 Feb 2016 00:00:00 +0100

Conclusions Children with DS and single-ventricle anatomy have excellent survival when PVR is less than 3 WUm2 in the first year of life, with minimal mortality beyond 2 years of age. When accounting for PVR, DS alone is not associated with increased mortality in patients with single-ventricle anatomy. (Source: The Annals of Thoracic Surgery)



Derivation of trisomy 21 affected human embryonic stem cell line Genea053

Wed, 10 Feb 2016 00:00:00 +0100

Publication date: Available online 10 February 2016 Source:Stem Cell Research Author(s): Biljana Dumevska, Robert McKernan, Divya Goel, Uli Schmidt The Genea053 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Trisomy 21, indicative of Down syndrome. Following ICM outgrowth on inactivated human feeders, CGH and STR analysis demonstrated a 47, XY, +21 karyotype and male allele pattern. The hESC line had pluripotent cell morphology and expressed pluripotent cell markers including 83% Nanog positive, 87% Oct4, 88% Tra1–60 and 98% SSEA4. The cell line was negative for Mycoplasma and visible contamination. (Source: Stem Cell Research)

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Acute myeloid leukemia in children: Current status and future directions

Wed, 10 Feb 2016 00:00:00 +0100

Abstract Acute myeloid leukemia (AML) accounts for 25% of pediatric leukemia and affects approximately 180 patients annually in Japan. The treatment outcome for pediatric AML has improved through advances in chemotherapy, hematopoietic stem cell transplantation (HSCT), supportive care, and optimal risk stratification. Currently, clinical pediatric AML studies are conducted separately according to the AML subtypes: de novo AML, acute promyelocytic leukemia (APL), and myeloid leukemia with Down syndrome (ML‐DS). Children with de novo AML are treated mainly with anthracyclines and cytarabine, in some cases with HSCT, and the overall survival (OS) rate now approaches 70%. Children with APL are treated with an all‐trans retinoic acid (ATRA)‐combined regimen with an 80–90% OS. Children w...



Validity of the 16-metre PACER and six-minute walk test in adults with Down syndrome.

Wed, 10 Feb 2016 00:00:00 +0100

Conclusion The 16-metre PACER and 6MWD are valid field tests for predicting aerobic capacity in adults with DS. Implications for Rehabilitation The 16-metre PACER and 6MWD tests are safe and feasible for use in adults with DS. Both tests are valid indicators of cardio-respiratory fitness as assessed by moderate-to-strong coefficients of determination and correlation coefficients. Both field tests along with BMI are predictors of aerobic capacity. PMID: 26860699 [PubMed - as supplied by publisher] (Source: Disability and Rehabilitation)



Decision-making for non-invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual versus relational autonomy.

Wed, 10 Feb 2016 00:00:00 +0100

This study explored Hong Kong Chinese pregnant women's preferences for individual versus relational autonomy for non-invasive prenatal testing (NIPT) for Down syndrome. A qualitative study carried out using semi-structured interviews with 36 women who had undertaken NIPT in Hong Kong. The findings show that most Hong Kong Chinese women valued aspects of both relational and individual autonomy in decision-making for NIPT. Women expected support from doctors as experts on the topic and wanted to involve their husband in decision-making while retaining control over the outcome. Somewhat surprisingly, the findings do not provide support for the involvement of family members in decision-making for NIPT. The adequacy of current interpretations of autonomy in prenatal testing policies as an indiv...



Modular transcriptional repertoire and MicroRNA target analyses characterize genomic dysregulation in the thymus of Down syndrome infants.

Tue, 09 Feb 2016 07:21:02 +0100

Authors: Moreira-Filho CA, Bando SY, Bertonha FB, Silva FN, Costa LD, Ferreira LR, Furlanetto G, Chacur P, Zerbini MC, Carneiro-Sampaio M Abstract Trisomy 21-driven transcriptional alterations in human thymus were characterized through gene coexpression network (GCN) and miRNA-target analyses. We used whole thymic tissue - obtained at heart surgery from Down syndrome (DS) and karyotipically normal subjects (CT) - and a network-based approach for GCN analysis that allows the identification of modular transcriptional repertoires (communities) and the interactions between all the system's constituents through community detection. Changes in the degree of connections observed for hierarchically important hubs/genes in CT and DS networks corresponded to community changes. Distinct commu...



Focal seizures and epileptic spasms in a child with Down syndrome from a family with a mutation

Mon, 08 Feb 2016 00:00:00 +0100

We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared. Her younger brother also had focal seizures at five months of age. (Source: Brain and Development)

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Survival in Children With Down Syndrome Undergoing Single-Ventricle Palliation.

Mon, 08 Feb 2016 00:00:00 +0100

CONCLUSIONS: Children with DS and single-ventricle anatomy have excellent survival when PVR is less than 3 WUm(2) in the first year of life, with minimal mortality beyond 2 years of age. When accounting for PVR, DS alone is not associated with increased mortality in patients with single-ventricle anatomy. PMID: 26867706 [PubMed - as supplied by publisher] (Source: The Annals of Thoracic Surgery)



Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory.

Mon, 08 Feb 2016 00:00:00 +0100

Authors: Hall JH, Wiseman FK, Fisher EM, Tybulewicz VL, Harwood JL, Good MA Abstract The present study examined memory function in Tc1 mice, a transchromosomic model of Down syndrome (DS). Tc1 mice demonstrated an unusual delay-dependent deficit in recognition memory. More specifically, Tc1 mice showed intact immediate (30sec), impaired short-term (10-minute) and intact long-term (24-hour) memory for objects. A similar pattern was observed for olfactory stimuli, confirming the generality of the pattern across sensory modalities. The specificity of the behavioural deficits in Tc1 mice was confirmed using APP overexpressing mice that showed the opposite pattern of object memory deficits. In contrast to object memory, Tc1 mice showed no deficit in either immediate or long-term memory ...



Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

Mon, 08 Feb 2016 00:00:00 +0100

We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared. Her younger brother also had focal seizures at five months of age. (Source: Brain and Development)



New perspectives

Sat, 06 Feb 2016 00:00:00 +0100

Publication date: Available online 4 February 2016 Source:International Medical Review on Down Syndrome Author(s): Jesús Flórez (Source: International Medical Review on Down Syndrome)



Intellectual Disability and Cognitive Impairment in Down Syndrome. From Birth to Old Age

Sat, 06 Feb 2016 00:00:00 +0100

Publication date: Available online 4 February 2016 Source:International Medical Review on Down Syndrome (Source: International Medical Review on Down Syndrome)

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Gait analysis and Bobath physiotherapy in adults with Down syndrome

Sat, 06 Feb 2016 00:00:00 +0100

Publication date: Available online 4 February 2016 Source:International Medical Review on Down Syndrome Author(s): I. Navas Vinagre, M.M. Bermejo Cámara, J.C. Bonito Gadella Introduction Down syndrome (DE) is a chromosomal disorder with variable phenotypic expression, although different patients share some common features. Among them, hypotonia, ligament laxity and delayed psychomotor development stand out. These traits can improve with early therapy, but remain as gait instability and pathologic compensatory strategies in adult patients. Pathological gait in DS patients has been studied previously, but the treatment of motor problems has not been approached from a neurological rehabilitation viewpoint, focused on quality of function. Objectives The aim of this study was to describe...



Prenatal diagnosis of trisomy 21 and semilobar holoprosencephaly. Presentation of a rare association

Sat, 06 Feb 2016 00:00:00 +0100

We present the first case reported in the Republic of Colombia of associated trisomy 21-holoprosencephaly, one of the few in the world literature. The patient was a male newborn, the son of a healthy primiparous 19 year old. An obstetric sonogram at 27 weeks gestation revealed the foetus with both cerebral ventricles dilated, semilobar holoprosencephaly and cleft lip and palate. The mother received a detailed ultrasound scan and amniocentesis for foetal cytogenetic study. A caesarean section was performed at 38 weeks. The newborn weighed 2200g and was 46cm long. The head circumference was 28cm; thoracic girth, 28.5cm; and abdominal girth, 27cm. Apgar score was 6 at 1min, 6 at 5min and 9 at 10min. Physically, the newborn had a full moon face, mongoloid obliquity of the palpebral fissure, na...



Two Worlds, One Lesson

Fri, 05 Feb 2016 22:14:17 +0100

II. The People you meet along the way Pediatric Cancer The king rides down the hallway on his big wheel screeching into the room carrying the "contraband." Caitlin explodes into laughter. "Caitie I got it- the pepperoni." Never before had she had anything like it. They formed a fast friendship over food and chemo meds. " I really can't taste anything unless it is salty or spicy," he informs her and she introduces him to chips and dunk (chips and spicy dip) and pickles. They know each other's schedules for receiving inpatient chemo and are happy when they can race each other down the hallway attached to their IV poles to the "playroom" to see Ms. Kim. The playroom is their sanctuary where no harm, no needles, and no docs are allowed. In the playroom, it's just the king, Caitlin, and M...



Better Speech Therapy for Children with Down syndrome

Fri, 05 Feb 2016 16:20:50 +0100

Study shows children with Down syndrome who have motor speech deficits have been inadequately diagnosed (Source: Disabled World)



More effective speech therapy approach for children with Down Syndrome

Fri, 05 Feb 2016 15:08:48 +0100

Children with Down syndrome who have motor speech deficits have been inadequately diagnosed, which could have a major impact on the interventions used by speech pathologists when treating patients, a new study indicates. (Source: ScienceDaily Headlines)

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How can we improve amniocentesis decision-making?

Fri, 05 Feb 2016 00:00:00 +0100

Abstract The decision to have an amniocentesis entails a trade-off between a risk of procedure associated miscarriage and the benefit of obtaining diagnostic information to identify Down syndrome or other chromosomal aneuploidy. Ideally, this trade-off is informed by first and second trimester pre-natal screening tests, such that women with low risk screening test results are not encouraged to have an amniocentesis. In a recent IJHPR article, Grinshpun-Cohen et al. surveyed 42 Israeli women without a medical indication for amniocentesis other than age. They found that one third of women who had a noninvasive serum screening test prior to amniocentesis did not even wait for the test results before electing to have the invasive procedure and 10 % of women did not have an...



Longitudinal measures of cognition in the Ts65Dn mouse: Refining windows and defining modalities for therapeutic intervention in down syndrome.

Fri, 05 Feb 2016 00:00:00 +0100

Authors: Olmos-Serrano JL, Tyler WA, Cabral HJ, Haydar TF Abstract Mouse models have provided insights into adult changes in learning and memory in Down syndrome, but an in-depth assessment of how these abnormalities develop over time has never been conducted. To address this shortcoming, we conducted a longitudinal behavioral study from birth until late adulthood in the Ts65Dn mouse model to measure the emergence and continuity of learning and memory deficits in individuals with a broad array of tests. Our results demonstrate for the first time that the pace at which neonatal and perinatal milestones are acquired is correlated with later cognitive performance as an adult. In addition, we find that life-long behavioral indexing stratifies mice within each genotype. Our expanded ass...



Study suggests more effective speech therapy approach for children with Down syndrome

Thu, 04 Feb 2016 05:00:00 +0100

(University of Vermont) A new study indicates that children with Down syndrome who have motor speech deficits have been inadequately diagnosed, which could have a major impact on the interventions used by speech pathologists when treating patients. (Source: EurekAlert! - Social and Behavioral Science)



Pharmacotherapy for mental health problems in people with intellectual disability

Wed, 03 Feb 2016 14:36:11 +0100

Purpose of review: Psychotropic medications are commonly prescribed to people with intellectual disability. We reviewed current evidence-based pharmacotherapy options and recent updates to guide clinicians in their medication management plans. Recent findings: Antipsychotics, particularly risperidone, appear to be effective in reducing problem behaviors in children with intellectual disability. Evidence in adults is inconclusive. Methylphenidate appears to be effective, and α-agonists appear promising in reducing attention-deficit hyperactivity disorder symptoms. Lithium might be effective in reducing aggression. Evidence is limited to support the use of antiepileptic drugs, anxiolytics, and naltrexone for management of problem behaviors. Antidepressants may be poorly tolerated and might...



Analysis of Downs Syndrome with molecular techniques for future diagnoses

Wed, 03 Feb 2016 00:00:00 +0100

Publication date: Available online 3 February 2016 Source:Saudi Journal of Biological Sciences Author(s): May Salem Al-Nbaheen 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 children disorder is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analysis. 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 spec...

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Prenatal reflex DNA screening for Down's syndrome: enhancing the screening performance of the initial first trimester test

Wed, 03 Feb 2016 00:00:00 +0100

ConclusionAdding markers to the Combined test can maintain or improve screening performance with a lower proportion of women reflexed. Our results can be used to determine the most cost‐effective reflex DNA screening policy. This article is protected by copyright. All rights reserved. (Source: Prenatal Diagnosis)