Saturday, February 29, 2020
Intussusception encephalopathy
Deutetrabenazine in Tourette Syndrome
Thursday, February 27, 2020
ECHS1 mutations in Leigh disease
Bianca Saez--A Tourette syndrome story
See: https://childnervoussystem.blogspot.com/2019/05/refractory-tourette-syndrome.html
https://childnervoussystem.blogspot.com/2018/01/deep-brain-stimulation-in-tourette.html
At just 16 years of age, Bianca Saez had the worst case of Tourette Syndrome doctors had ever seen in Australia – if not the world.
First diagnosed at the age of three, the sweet young girl's condition meant that at any time – with no given notice – she was at the mercy of uncontrollable fits, violent tics and sudden outbursts of extraordinary expletives.
Bianca would punch, scratch and attack not only her own body but also her loving family. She would scream profanities at passers-by, and with age, her condition simply continued to get worse.
In 2008, supported by her devoted parents John and Leanne, Bianca bravely sat down with 60 Minutes reporter Tara Brown to share her brutal struggle for self-control in the hope it would bring some understanding to the confronting condition.
"I want to get rid of my tics, and have a better life," an emotional Bianca told 60 Minutes.
"I hate hitting my mum. I hate hitting everybody. If I had one wish I would take that away."
As 60 Minutes revealed, Bianca's sudden violent outbursts had seen every wall in her battered family home punched in, tiles ripped from the bathroom and furniture destroyed.
Much to the heartbreak of her parents, Bianca was forced to live at an adolescent mental health centre in Brisbane due to her uncontrollable behaviour. She couldn't attend normal school and had trouble making any kind of normal teenage friendships.
"Seeing her like this – it's the last thing a parent wants for their perfect child," a tearful Leanne told reporter Tara Brown.
"When I had Bianca, I just looked at her and couldn't believe that something so perfect - I made that. And then for something to go wrong is a nightmare. I never want that for my child, and I love her so much."
The Saez family were truly at their wit's end. And their story broke the nation's heart.
Since 2008, 60 Minutes' story with Bianca has been viewed more than 27 million times.
Her brutal struggle for self-control touched the hearts of millions.
60 Minutes was inundated with not just praise for brave Bianca, but requests for updates on her condition in the years to follow. And this week on 60 Minutes, Bianca is back.
"All I want to do is create awareness," a now 27-year-old Bianca tells Tara Brown in a preview of this week's report.
"What doesn't kill me makes me stronger."
As 60 Minutes first reported in 2008, Bianca was at the mercy of her own troubled mind until doctors performed radical brain stimulation surgery.
The operation was the first of its kind on a Tourette's patient in Australia and promised to reset the misbehaving brain cells that caused Bianca's severe condition.
For the two miraculous weeks that followed the surgery, Bianca was Tourette's free, finally able to walk without hitting and talk without swearing.
For the two weeks after surgery, Bianca was Tourette's free, finally able to walk without hitting and talk without swearing.
"I'm so grateful for this," she told Tara Brown in 2008.
"I can't believe how much I'm grateful for having this operation because it's changed my whole entire life and I'm so proud of myself for doing it."
But tragically, in the months after 60 Minutes finished filming, a staph infection set in and ultimately led to the removal of the Bianca's changing electrodes.
Both Bianca and her doctors were determined to persevere, and over the past decade further attempts were made to eradicate her Tourette's.
Eleven years after her first 60 Minutes interview, Bianca now tells Tara Brown she has abandoned the hope for further radical brain stimulation surgery. She has accepted that there will be no cure for her condition. But despite it all, she is incredibly happy.
As Tara Brown shares this Sunday on 60 Minutes, Bianca is not just surviving but thriving with her Tourette's. A truly inspirational woman with a powerful message to share.
https://www.9news.com.au/national/60-minutes-bianca-saez-with-worst-case-of-tourette-syndrome-in-australia-speaks-a-decade-on/c810ceb6-3077-4f89-9ed6-e553e7c7ef7f
Wednesday, February 26, 2020
Predictors of cognitive development in children with neurofibromatosis type 1 and plexiform neurofibromas
Tuesday, February 25, 2020
A systematic review and network meta-analysis of pharmacologic treatments for pediatric migraine prophylaxis
10. doi:10.1001/jamapediatrics.2019.5856. [Epub ahead of print]
Epilepsy patients taking newer AEDs may not benefit from routine drug monitoring
Saturday, February 22, 2020
Pelletier verdict
Thursday, February 20, 2020
The genetics and epigenetics of 22q11.2 deletion syndrome
Tuesday, February 18, 2020
Adjunctive perampanel in pediatric patients
Visual snow revisited
Friday, February 14, 2020
Comparative study of posterior and anterior circulation stroke in childhood
Thursday, February 13, 2020
PIGP mutations
Myelin oligodendrocyte glycoprotein antibodies in pediatric demyelinating and encephalitic syndromes
In this prospective observational study, children with demyelinating syndromes and with encephalitis other than acute disseminated encephalomyelitis (ADEM) recruited from 40 secondary and tertiary centres in Spain were investigated for MOG antibodies. All MOG antibody-positive cases were included in our study, which assessed syndromes, treatment and response to treatment (ie, number of relapses), outcomes (measured with the modified Rankin scale [mRS]), and phenotypes associated with poor prognosis. We used Fisher's exact and Wilcoxon rank sum tests to analyse clinical features, and survival Cox regression to analyse time to antibody negativity.
See: https://childnervoussystem.blogspot.com/2018/04/mog-antibodies.html