What is the Diagnostic Yield for Genetic Testing of Children with Neurodevelopmental Delays?
Discussion
Children having significant neurodevelopmental disabilities are common with 17% of 3-17 year olds children having some type of such disability. Many are recommended to have genetic testing. Three main reasons for testing are determining the etiology, potential availability of targeted treatment or intervention, and determination of recurrence risk. But there are other pros and some cons to genetic testing which include:
Pros
Diagnosis is determined
Improved understanding of diagnosis, natural history and prognosis for patient and family including decreased anxiety/guilt
“Can end the diagnostic odyssey...
Source: PediatricEducation.org - July 10, 2023 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
New vaccine hope for Down's syndrome people at risk of Alzheimer's
Swiss scientists are testing a vaccine which may protect people with Down's syndrome from developing Alzheimer's disease in later life as two out of three people with disorder are at risk of dementia. (Source: the Mail online | Health)
Source: the Mail online | Health - July 8, 2023 Category: Consumer Health News Source Type: news
Immunity Genes May Play a Role in Down Syndrome
Extra copies of four interferon receptor genes found on human chromosome 21 trigger developmental changes in a mouse model of Down syndrome. (Source: The Scientist)
Source: The Scientist - July 7, 2023 Category: Science Tags: News & Opinion Source Type: news
Doctors guide heart surgery on little girl 1,500 miles away via video
A 4-year-old girl had successful and highly complex heart surgery while the doctors in charge were almost 1,500 miles away. The girl, identified as Helena, was born with a serious congenital heart defect and also has Down syndrome. Congenital heart defects are conditions present at birth that can…#helena #sãoluís #maranhão #brazil #sãopaulo #brazilian #tvglobo #universityhospital #incor (Source: Reuters: Health)
Source: Reuters: Health - June 5, 2023 Category: Consumer Health News Source Type: news
U.K. Disability Abortion Campaign Heads To European Court
Campaigners say laws that allow late term abortions for fetuses with Down syndrome and other disabilities are discriminatory. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - May 19, 2023 Category: Pharmaceuticals Authors: Katherine Hignett, Contributor Tags: Healthcare /healthcare Innovation /innovation standard Source Type: news
How Mattel designed the first Barbie with Down syndrome
Mattel has unveiled the first Barbie doll representing a person with Down syndrome. National Down Syndrome Society President and CEO Kandi Pickard and actress Sofia Sanchez talk about helping Mattel design the doll’s physical features and what the toy’s representation means to kids with Down…#mattel #kandipickard #sofiasanchez (Source: Reuters: Health)
Source: Reuters: Health - April 26, 2023 Category: Consumer Health News Source Type: news
Phony Doc Accused in California; Neurosurgeon Shot Dead; Barbie With Down Syndrome
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A California man posing as a doctor allegedly treated thousands of patients, including some who had cancer. (NBC News)
In other news from the Golden State, disability rights groups... (Source: MedPage Today Pediatrics)
Source: MedPage Today Pediatrics - April 26, 2023 Category: Pediatrics Source Type: news
More people with Down syndrome are living longer, but medical systems aren't keeping up
It took Samantha Lesmeister's family four months to find a medical professional who could see that she was struggling with something more than her Down syndrome. (Source: CNN.com - Health)
Source: CNN.com - Health - April 18, 2023 Category: Consumer Health News Source Type: news
Adults with Down syndrome face a health care system that often treats them as kids
MONTROSE, Mo. — It took Samantha Lesmeister’s family four months to find a medical professional who could see that she was struggling with something more than her Down syndrome. The young woman, known as Sammee, had become unusually sad and lethargic after falling in the shower and hitting her…#montrose #samanthalesmeister #sammee #marilynlesmeister #kansascity #kansas #missouri #moyapeterson #sammeelesmeister #withoutpetersons (Source: Reuters: Health)
Source: Reuters: Health - April 16, 2023 Category: Consumer Health News Source Type: news
I had to fight for my child with Downs Syndrome after the hospital booked me a termination
Natalie O'Rourke, from Teddington, joined Holly Willoughby and Phillip Schofield on the This Morning sofa on World Down Syndrome Day, with her ten-year-old son Woody. (Source: the Mail online | Health)
Source: the Mail online | Health - March 21, 2023 Category: Consumer Health News Source Type: news
Researchers study enhanced genetic animal model of Down syndrome
New mouse model may inform potential therapeutic options for Down syndrome. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - March 14, 2023 Category: American Health Source Type: news
Inside McDonald's Super Bowl-Valentine ’s Day campaign with Cardi B and Offset
The rest of the spot reflects another core tenet for McDonald’s—a commitment to diversity. The ad’s representation is notable, even by today’s more progressive industry standards. The spot features people of color, a gay couple, a couple with Down syndrome, an elderly couple and a Hispanic couple…#hispanic #spanish #knowingtheirorder #mcdonalds #superbowl #famousmeals #travisscott #saweetie #jbalvin #cardib (Source: Reuters: Health)
Source: Reuters: Health - February 12, 2023 Category: Consumer Health News Source Type: news
These New Pediatric Development Clinics in Rwanda Save Lives
By D éogratias Rwangabo Nkurunziza,
Communication Officer ; Richard Kalisa,
Newborn and child health advisor
A PDC nurse examines baby Sebastien at Ruhengeri Referral Hospital. Photo by Deogratias Rwangabo Nkurunziza for IntraHealth International.January 31, 2023The birth of a baby is often a joyous, momentous occasion. For Izabayo Marcel, however, August 2021 was a heartbreaking month. His wife died while giving birth to their baby, Sebastien Duhirwe, and Sebastien suffered from birth asphyxia, which left him fighting for his life.The doctors and nurses at the Ruhengeri Referral Hospital acted quickly—and t...
Source: IntraHealth International - January 31, 2023 Category: International Medicine & Public Health Authors: kseaton Tags: Maternal, Newborn, & Child Health Health workforce development Midwives Nurses Source Type: news
PET Changes Similar for Alzheimer Disease, Down Syndrome
TUESDAY, Dec. 20, 2022 -- Positron emission tomography (PET) changes are similar for people with autosomal dominant Alzheimer disease and those with Down syndrome, according to a study published in the January issue of The Lancet Neurology.
Anna H.... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - December 20, 2022 Category: Pharmaceuticals Source Type: news
Alzheimer ’s progression in Down syndrome appears similar to other genetic, early onset forms of the disease
NIH-funded study suggests people with Down syndrome may benefit from Alzheimer ’s disease treatments. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - December 12, 2022 Category: American Health Source Type: news
