The CdLS Blog
‘Expect problems,’ she told us. I had heard those words before, yet my brain couldn’t make sense of them. ‘What kind of problems?,’ I asked, my voice trembling.’
“Tension filled the silent labor and delivery room. Much like the oppressive humidity of a hot summer day, the air was thick with fear. I sat up in bed, my back supported by pillows. I was surrounded by five doctors, a nurse, Steve, and my twin sister, all of whom...
AI face-scanning app spots signs of rare genetic disorders Deep-learning algorithm helps to diagnose conditions that aren’t readily apparent to doctors or researchers.
A deep-learning algorithm is helping doctors and researchers to pinpoint a range of rare genetic disorders by analysing pictures of people’s faces. In a paper1 published on 7 January in Nature Medicine, researchers describe the technology behind the diagnostic aid, a...
Cornelia de Lange syndrome in diverse populations
Leah Dowsett Antonio R. Porras Paul Kruszka Brandon Davis Tommy Hu Engela Honey Eben Badoe Meow‐Keong Thong Eyby Leon Katta M. Girisha Anju Shukla Shalini S. Nayak Vorasuk Shotelersuk Andre Megarbane Shubha Phadke Nirmala D. Sirisena Vajira H. W. Dissanayake Carlos R....
Minute Man Arc client graduates from self-advocacy program
The following is from a submission by Stephanie Parish, Minute Man Arc. Valerie Lessa, of Concord, graduated from an eight-week Self-Advocacy Leadership Series at Bridgewater State University on Sept. 5. [Courtesy Photo] On Sept. 5, Valerie Lessa, a Minute Man Arc...
How to Plan Finances to Raise a Special-Needs Child
By Paul SullivanThe New York Times (https://nyti.ms/2RanViN) Carole and Michael Maguire were careful to plan early for the financial needs of their daughter Ally, who is now 19 and attends the Riverview School on Cape Cod, Mass.Credit Credit Kieran Kesner for The New...
Mothers of Children with Rare Genetic Syndromes Experience Stress Similar to Moms of Autistic Kids, Study Finds
https://angelmansyndromenews.com/2018/12/14/mother-of-children-with-angelman-syndrome-experience-high-levels-of-stress-similar-to-mothers-of-children-with-autism/
My Experience Attending the 2018 ASHA Convention
Michele Champion, M.Ed., Special Education, CdLS Foundation Professional Development Committee I recently had the opportunity to attend an ASHA (American Speech-Language-Hearing Association) Convention in Boston. ASHA is the national association for members and...
FDA Safety and Innovation Act: A Step Forward for Patients With Rare Diseases – NORD
Here is an interesting article on rare disease patients and families, written by By Peter L. Saltonstall, President and CEO of National Organization for Rare Disorders (NORD) about developments around the FDA Safety and Innovation Act. Here is a short excerpt for a...
Facial recognition zeroes in on genetic disorders
Dr. Olaf Bodamer wasn’t sure what was wrong with the 3-year-old boy he recently examined at Boston Children’s Hospital, but he had a hunch. The child’s muscle tone was weak, and he had taken longer than expected to start walking and talking. He also had unusual facial...
UK research on Cornelia de Lange Syndrome
The Cerebra Centre for Neurodevelopmental Disorders is organized through the School of Psychology at the University of Birmingham. Their work focuses on difficulties experienced by children and adults who have intellectual disabilities, autism spectrum disorders and...
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