Thursday, September 03, 2015

Must listen for anyone who works with or knows anyone with autism!


Great quotes:

"Not everything that steps out of line or is unusual is inferior."  - Hans Asperger

When you have met one person with autism, you have met one person with autism.

- JR



'NeuroTribes' Examines The History — And Myths — Of The Autism Spectrum

In 1938, an Austrian pediatrician named Hans Asperger gave the first public talk on autism in history. Asperger was speaking to an audience of Nazis, and he feared that his patients — children who fell onto what we now call the autism spectrum — were in danger of being sent to Nazi extermination camps.
As Asperger spoke, he highlighted his "most promising" patients, a notion that would stick with the autistic spectrum for decades to come.
"That is where the idea of so-called high-functioning versus low-functioning autistic people comes from really — it comes from Asperger's attempt to save the lives of the children in his clinic," science writer Steve Silberman tells Fresh Air's Terry Gross.
Silberman chronicles the history of autism and examines some of the myths surrounding our current understanding of the condition in his new book,NeuroTribes. Along the way, he revisits Asperger's calculated efforts to save his patients.
Link to story here

Sunday, August 30, 2015

Oliver Sacks - A Tribute to A Man Who Inspired a Generation - Patients and Healers

A young Oliver Sacks

A tribute to Oliver Sacks - 9 July 1933 – 30 August 2015) - Dr Sacks inspired a generation. After Dr. Sacks, patients can find both a commonality in others and a wonder in their unique experiences. Healers can stop to admire the diversity of creation. - JR


Oliver Sacks: Nervous System and the Soul (excerpt) - Thinking Allowed with Jeffrey Mishlove 
https://youtu.be/nU36JbnH-b8

Oliver sacks in his many pursuits. 


Oliver Sacks on Tourette Syndrome Part 1, 2 ,3

The neurologist Oliver Sacks talks about Tourette Syndrome. Features Shane Fistell. Tourette's is a neurological disorder that causes motor and vocal tics which vary considerably between individuals and also impulsive behaviours and reduced inhibition (and filtering) of thoughts, movements and sensory input. This may lead to a rapidity and expansiveness of thought processes and reduced reaction times. Obsessions and compulsions are a consistent feature of TS and may involve thoughts, speech and movements such as touchings or evening things up and counting. This portrayal provides a sensitive and insightful perspective - a welcome and more representational alternative to the often simplistic stereotypical media depiction of the disorder which has been responsible for much misunderstanding and distress to sufferers.

Part 1

Part 2

Part 3


"We see with our brains"- Charles Bonnet Syndrome

http://www.ted.com Neurologist and author Oliver Sacks brings our attention to Charles Bonnett syndrome -- when visually impaired people experience lucid hallucinations. He describes the experiences of his patients in heartwarming detail and walks us through the biology of this under-reported phenomenon.

https://youtu.be/SgOTaXhbqPQ


Nightmares & Sleep Paralysis

Dr. Sacks talks about the frightening hallucinations that may occur in sleep paralysis. From his new book, Hallucinations.
https://youtu.be/0CVGANRgABY


On Brain Injury 

Uploaded on Mar 11, 2011 - https://youtu.be/WSxpX5Id_js
Dr. Oliver Sacks talks about Greg F., the real patient featured in his essay "The Last Hippie," basis of the movie, "The Music Never Stopped," featuring music from the Grateful Dead, Dylan, the Beatles, Crosby, Stills, Nash and others.



Thursday, August 27, 2015

Study: The yield from genetic testing for epileptic encephalopathies is....

Epilepsia

Before genetic testing parents want to know the point in doing the test and the chances of finding something?

Insurance companies want to find a reason to block paying for the test.


Here is some excellent data that Will make one happy and the other sad. 

Genetic causes were found in 28%.

 - JR


Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Authors

Summary

Objective

Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic.

Methods

We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic patient charts were reviewed for clinical features, neuroimaging, biochemical investigations, and molecular genetic investigations including targeted next-generation sequencing of epileptic encephalopathy genes.

Results

Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A,KCNQ2, STXBP1, PCDH19, and SLC9A6 genes. Forty-five percent of patients obtained a genetic diagnosis by targeted next-generation sequencing epileptic encephalopathy panels. It is notable that 4.5% of patients had a treatable inherited metabolic disease.

Significance

To the best of our knowledge, this is the first study to combine inherited metabolic disorders and other genetic causes of epileptic encephalopathy. Targeted next-generation sequencing panels increased the genetic diagnostic yield from <10 to="">25% in patients with epileptic encephalopathy.

Wednesday, August 26, 2015

Women and Girls on Valproate - Guidance from the ILAE

Some advice on valproate / depakote use. JR


Valproate in the treatment of epilepsy in girls and women of childbearing potential

Authors

Summary

This document provides guidance on the use of valproate in girls and women of childbearing age from a joint Task Force of the Commission on European Affairs of the International League Against Epilepsy (CEA-ILAE) and the European Academy of Neurology (EAN), following strengthened warnings from the Coordination Group for Mutual Recognition and Decentralised Procedures-Human (CMDh) of the European Medicines Agency (EMA), which highlight the risk of malformations and developmental problems in infants who are exposed to valproate in the womb. To produce these recommendations, the Task Force has considered teratogenic risks associated with use of valproate and treatment alternatives, the importance of seizure control and of patient and fetal risks with seizures, and the effectiveness of valproate and treatment alternatives in the treatment of different epilepsies. The Task Force's recommendations include the following:
 (1) Where possible, valproate should be avoided in women of childbearing potential. 
(2) The choice of treatment for girls and women of childbearing potential should be based on a shared decision between clinician and patient, and where appropriate, the patient's representatives. Discussions should include a careful risk–benefit assessment of reasonable treatment options for the patient's seizure or epilepsy type. 
(3) For seizure (or epilepsy) types where valproate is the most effective treatment, the risks and benefits of valproate and other treatment alternatives should be discussed. 
(4) Valproate should not be prescribed as a first-line treatment for focal epilepsy.
 (5) Valproate may be offered as a first-line treatment for epilepsy syndromes where it is the most effective treatment, including idiopathic (genetic) generalized syndromes associated with tonic–clonic seizures. 
(6) Valproate may be offered as a first-line treatment in situations where pregnancy is highly unlikely (e.g., significant intellectual or physical disability). 
(7) Women and girls taking valproate require regular follow-up for ongoing consideration of the most appropriate treatment regimen.Close the feedba

Key Points

Recommendations for the Use of Valproate in the Treatment of Epilepsy in Girls and Women of Childbearing Potential

  • The choice of treatment for girls and women of childbearing potential should be that of a shared decision between clinician and patient, and be based on a careful risk–benefit assessment of reasonable treatment options for the patient's seizure or epilepsy type.
  • Given the risks associated with exposure in utero, valproate should be avoided wherever possible as initial treatment of epilepsy in girls and women of childbearing potential.
  • Valproate should thus generally not be used for treatment of focal epilepsies, and withdrawal of valproate or switch to treatment alternatives should be considered for women of childbearing potential who are established on treatment with valproate for focal seizures and who are considering pregnancy.
  • In cases where valproate is considered the most appropriate option (e.g., some idiopathic/genetic generalized epilepsies), every female patient and the parents of a female child must be fully informed of the risks associated with valproate use during pregnancy as well as of the risks and benefits of treatment alternatives.
  • When used in girls and women of childbearing potential, valproate should be prescribed at the lowest effective dose, when possible aiming at doses not exceeding 500–600 mg/day, although, at times, higher doses may be necessary to attain seizure control.
  • Women of childbearing potential who are not planning pregnancy and who continue treatment with valproate should utilize effective contraception methods or otherwise ensure that unplanned pregnancies can be avoided.
  • It is generally not advisable to switch from valproate to another treatment in women who discover that they are pregnant while on valproate.
  • Women should be informed about the possibilities and limitations of prenatal screening, which may detect major malformations but cannot identify children whose neurodevelopment will be affected.