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Fears over new Down's syndrome test may have been exaggerated, warns expert
Leading statistician says evidence suggests there will be no change in number of terminations, and more than 40 miscarriages a year will be avoidedA safer prenatal test for Down ’s syndrome due to be introduced on the NHS is not predicted to lead to more pregnancies being terminated, according to one of Britain’s most eminent statisticians.Sir David Spiegelhalter, professor for the public understanding of risk at the University of Cambridge, said that the best evidence available suggests that the blood test,which will be made available in 2018, would lead to an increase of around 20 in the number of positive diagnoses ...
Source: Guardian Unlimited Science - November 5, 2016 Category: Science Authors: Hannah Devlin Science correspondent Tags: Down's syndrome Science Health Parents and parenting Family Abortion Source Type: news

Estimation of the number of people with Down syndrome in the United States
Skotko
Source: Genetics in Medicine - April 6, 2017 Category: Genetics & Stem Cells Authors: Gert de Graaf Frank Buckley Brian G. Skotko Tags: births deaths Down syndrome prevalence trisomy 21 Source Type: research

Down syndrome and autism spectrum disorder
Publication date: January–April 2017 Source:International Medical Review on Down Syndrome, Volume 21, Issue 1 Author(s): B. Garvía Peñuelas
Source: International Medical Review on Down Syndrome - April 14, 2017 Category: Disability Source Type: research

International medical journal on Down Syndrome: our journal
Publication date: September–December 2017 Source:International Medical Review on Down Syndrome, Volume 21, Issue 3 Author(s): K. Trias Trueta
Source: International Medical Review on Down Syndrome - December 20, 2017 Category: Disability Source Type: research

Hirschsprung disease and Down syndrome: From the reappraisal of risk factors to the impact of surgery
The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR+DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome.
Source: Journal of Pediatric Surgery - February 23, 2019 Category: Surgery Authors: Alessio Pini Prato, Rossella Arnoldi, Alberto Sgr ò, Enrico Felici, Fabrizio Racca, Paolo Nozza, Narcisio Mariani, Manuela Mosconi, Cinzia Mazzola, Girolamo Mattioli Tags: Down Syndrome and Intestinal Condition Source Type: research

How a Spanish town pioneered dolls with Down's syndrome
The town of Onil has changed the lives of children everywhereThe first time Kelle Hampton glimpsed a doll with Down ’s syndrome, anger boiled up inside her. Its exaggerated features bore little resemblance to the sweet facial characteristics that she loved about her daughter Nella, who was born with the genetic disorder.The experience set the USblogger and author firmly against such dolls. But to her surprise, years later she found herself smitten with another doll. This time it had been carefully crafted to subtly capture the characteristics that made Nella unique. “This one was simply a beautiful doll any child would...
Source: Guardian Unlimited Science - February 15, 2021 Category: Science Authors: Ashifa Kassam in Madrid Tags: Down's syndrome Children Toys Spain Life and style Society World news Europe Health Source Type: news

The development of route learning in Down syndrome, Williams syndrome and typical development: investigations with virtual environments
Abstract The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to investigate use of landmarks; and to relate cognitive functions to route‐learning ability in these groups. Overall, measures of attention and long‐term memory were strongly associated with route learning, even once non‐verbal ability was controlled for. All of the grou...
Source: Developmental Science - October 5, 2014 Category: Child Development Authors: Harry R.M. Purser, Emily K. Farran, Yannick Courbois, Axelle Lemahieu, Pascal Sockeel, Daniel Mellier, Mark Blades Tags: Paper Source Type: research

Prospective study of autism phenomenology and the behavioural phenotype of Phelan –McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
ConclusionsASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS.
Source: Journal of Neurodevelopmental Disorders - November 10, 2017 Category: Neurology Source Type: research

Up from Down
With her informative, moving account of raising a son with Down Syndrome, Rachel Adams seeks to communicate with “and even talk back to” parents, doctors, researchers, and therapists, many of whom retain “outdated and incorrect information” even as she envies those “whose biggest worry was that their kids didn’t want to nap or eat green vegetables."read more
Source: Psychology Today Parenting Center - September 17, 2013 Category: Psychiatry & Psychology Authors: Glenn C. Altschuler, Ph.D. Tags: Child Development Parenting americans with disabilities Americans with Disabilities Act children with disabilities columbia university professor conventional wisdom disabilities education act disability studies down syndrome education Source Type: news

The origins of the Fundació Catalana Síndrome de Down
Publication date: January–April 2014 Source:International Medical Review on Down Syndrome, Volume 18, Issue 1 Author(s): M. Trueta
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Contribution of copy-number variation to Down syndrome–associated atrioventricular septal defects
Contribution of copy-number variation to Down syndrome–associated atrioventricular septal defects Genetics in Medicine 17, 554 (July 2015). doi:10.1038/gim.2014.144 Authors: Dhanya Ramachandran, Jennifer G. Mulle, Adam E. Locke, Lora J.H. Bean, Tracie C. Rosser, Promita Bose, Kenneth J. Dooley, Clifford L. Cua, George T. Capone, Roger H. Reeves, Cheryl L. Maslen, David J. Cutler, Stephanie L. Sherman & Michael E. Zwick
Source: Genetics in Medicine - July 2, 2015 Category: Genetics & Stem Cells Authors: Dhanya RamachandranJennifer G. MulleAdam E. LockeLora J.H. BeanTracie C. RosserPromita BoseKenneth J. DooleyClifford L. CuaGeorge T. CaponeRoger H. ReevesCheryl L. MaslenDavid J. CutlerStephanie L. ShermanMichael E. Zwick Tags: atrioventricular septal defects ciliome congenital heart defect copy-number variation Down syndrome Source Type: research

The origins of the Fundaci ó Catalana Síndrome de Down
Publication date: January–April 2014 Source:International Medical Review on Down Syndrome, Volume 18, Issue 1 Author(s): M. Trueta
Source: International Medical Review on Down Syndrome - June 17, 2016 Category: Disability Source Type: research

Plasma NT1-tau and A β < sub > 42 < /sub > correlate with age and cognitive function in two large Down syndrome cohorts
DISCUSSION: NT1-tau correlates with age and worse cognition in DS. Further validation of NT1-tau and other plasma biomarkers of AD neuropathology in DS cohorts is important for clinical utility.PMID:37438872 | DOI:10.1002/alz.13382
Source: The Journal of Alzheimers Association - July 13, 2023 Category: Psychiatry Authors: Andrew M Stern Kathryn L Van Pelt Lei Liu Amirah K Anderson Beth Ostaszewski Mark Mapstone Sid O'Bryant Melissa E Petersen Bradley T Christian Benjamin L Handen Dennis J Selkoe Frederick Schmitt Elizabeth Head Alzheimer's Biomarker Consortium-Down Syndrom Source Type: research

How To Overcome Impostor Syndrome and Embrace Your Accomplishments
Conclusion You’re not alone; most people have to face some level of internal questioning of their capabilities before taking on a new challenge. And while the precise statistics of those who struggle with impostor syndrome are conflicting, self-doubt is a known human condition. Never forget to give yourself a chance to prove that you are worthy and capable of everything you have set out to accomplish. Be prepared to learn from your mistakes and embrace your successes. The post How To Overcome Impostor Syndrome and Embrace Your Accomplishments appeared first on Pick the Brain | Motivation and Self Improvement.
Source: PickTheBrain | Motivation and Self Improvement - August 8, 2023 Category: Consumer Health News Authors: Nahla Davies Tags: featured productivity tips psychology self-improvement imposter syndrome Source Type: blogs