The answer?

The protein in CJD, Mad Cow etc. is “PrP” (Prion Protein); PrPSC => scrapie; PrPCJD => CJD

Stanley Pruisner

Nobel Prize in 1997 "for his discovery of Prions - a new biological principle of infection"

Prions (Proteinaceous infectious bodies)

CJD - Prognosis

No treatments available, yet

Most die within 1 year of diagnosis

ALS – sometimes an “expanded repeat”, sometimes a prion

Hexanucleotide (6 DNA nucleotide) repeat in C90RF72 gene

Mutation in TARDBP gene causing a prion

Autism – Autism Spectrum Disorders (ASD) Not a unitary disease: it’s not “Rain Man” or “normal”

Actually a “multi-dimensional space” not just than a 2-dimensional spectrum Social deficits Communication deficits Repetitive, stereotyped behaviors

The term autism first introduced in 1943, awareness has increased greatly in the last decade or two

“Asperger’s” no longer in DSM – instead diagnosis on a spectrum

Usually diagnosed around 4 years of age, although can be diagnosed at 2

Autism is not caused by “refrigerator mothers” as espoused by Bettelheim

There is no evidence of a connection between vaccines and autismBruno Bettleheim

Vaccines are not the cause of autism

VACCINES DO NOT INCREASE THE ODDS OF DEVELOPING AUTISM REALLY! This possibility has been as thoroughly investigated as anything in

medicine, and there is absolutely no evidence to support a connection…

...at least no credible, good, scientific evidence. There is highly suspect/verifiably fraudulent evidence:

Andrew Wakeflield (formerly MD, license revoked) This is NOT a viable hypothesis; it is no more valid than invoking

birthday cake or airplane travel as a cause of autism.

Autism has a significant genetic component

Brain connectivity may be different as early as 3 monthswith a different difference by 12 months!

3 months of age:

6 months of age:

9 months of age:

12 months of age:

: Low-risk for autism controls: High risk for autism children

Connectivity differences in cerebellum in autism

Autism Spectrum Disorders Prognosis

Persists throughout life

For many, symptoms improve with treatment and age

Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy

During adolescence, some children with autism may become depressed or experience behavioral problems.

People with an ASD usually continue to need services and support, but many are able to work successfully and live independently or within a supportive

Autism Treatment

There is no known “cure” for autism

Therapies and behavioral interventions designed to remedy specific symptoms in that individual can bring about substantial improvement.

Treatment options include educational/behavioral interventions, medications, and family education.

Most professionals agree that the earlier the intervention, the better.

There are many unproven and even disproven interventions “Facilitated communication”

Facilitated Communication

A trained helper gently touches or supports the patient’s hand, supposedly

facilitating their ability to communicate via a keyboard or pointing device.

There were early doubters, but much theoretical defense.

Families reported great success – finally getting some communication, seeing unsuspected abilities (e.g., poetry), surprising insights and revelations…

…inicluding essages obtained via FC alleging sexual abuse

Resulting in divorces, imprisonments

Investigations in one case in particular revealed serious doubts about the veracity of the messages being typed.

“Facilitated” “Communication” ?!

Scientific investigation had consistently found it to be flawed.

As early at 1991, scientific studies had discredited it. Defenders of FC claimed that:

It was inappropriate to subject patients to testing, That stress interfered with it’s efficacy Doubters were “squashing hope”, etc.

From a 2014 review of the field:

“Results indicated unequivocal evidence for facilitator control: messages generated through FC are authored by the facilitators rather than the individuals with disabilities. Hence, FC is a technique that has no validity.”

And yet…it persists!?....e.g., ”Supported Typing”

Schizophrenia

In 1911, Eugen Bleuler, first used the word "schizophrenia”, which comes from the Greek words meaning "split" and "mind," but people with schizophrenia do not have split personalities - they have a split from reality.

“Positive Symptoms”: delusions, disordered thoughts and speech, and tactile, auditory, visual, olfactory and gustatory hallucinations, typically regarded as manifestations of psychosis.

“Negative Symptoms”: "Flat affect“, lack of pleasure in everyday life, lack of ability to begin and sustain planned activities, speaking little, even when forced to interact.

Cognitive Symptoms: Poor "executive functioning“, trouble focusing or paying attention, problems with "working memory"

Schizophrenia in art - Louis Wain

Epidemiology of Schizophrenia

Schizophrenia - Continued

The illness occurs in 1 percent of the general population, but it occurs in 10 percent of people who have a first-degree relative with the disorder, such as a parent, brother, or sister.

Fluid-filled cavities at the center of the brain, called ventricles, are larger in some people with schizophrenia. The brains of people with the illness also tend to have less gray matter,

Scientists found small changes in the distribution or characteristics of brain cells that likely occurred before birth. Some experts think problems during brain development before birth may lead to faulty connections. The problem may not show up in a person until puberty.

Brain differences in schizoprenia

Compared with healthy controls, schizophrenics had reductions in total brain, gray matter, and white matter volumes, and significant increases in ventricle volumes after

There were no significant differences in brain volume between unaffected siblings and healthy controls.

Schizophrenia patients also showed cortical thinning compared with healthy controls, and had decreased gray matter density.

Schizophrenia - Continued

John NashNobel Prize in Economics 1994

Schizophrenia

Early intervention and early use of new medications lead to better medical outcomes for the individual

The earlier someone with schizophrenia is diagnosed and stabilized on treatment, the better the long-term prognosis for their illness

Teen suicide is a growing problem -- and teens with schizophrenia have approximately a 50% risk of attempted suicide

In rare instances, children as young as five can develop schizophrenia.

Neurological & Psychiatric Disorders Have Had a “Bad Rap”

Diagnosing brain disorders is complicated: diagnosis is based on subjective symptoms rather than objective measures (unlike diabetes, hypertension etc.)

Pain, depression, sleep problems etc. can look the same, but have different causes Cases can have unique presentations and not fall into clear, consistent categories This also makes choosing how to treat difficult

The brain is a part of your body, like bones, pancreas, eye lenses etc. Mental disorders are physical problems, like osteoarthritis, cataracts, diabetes etc.

Lack of “will power” and “character” are not the cause of brain disorders

The stigmatization of mental disorders is illogical, ignorant and cruel

Brain Disorders - Comments

At least a 1/3 of the ~20,000 different genes in the human genome are active primarily in the brain. This is the highest proportion of genes expressed in any part of the body. There are many, many ways things can “go awry” in the brain

“Nature” and “nurture” are significant factors in all disorders.

Increasing interest in role of diet (e.g., gluten) and gut microbes (e.g., in autism)

Brain disorders are often diagnosed by symptoms rather than underlying cause This makes diagnosis and choosing how to treat difficult Depression, sleep problems, memory loss, etc. can look the same, but have different causes Cases can have unique presentations and not fit clear, exclusive disease categories

There is a huge unmet medical need in neuro/psych disorders Donate time or money, or volunteer for studies for which you are eligible

Neurological & Psychiatric Disorders Have Had a “Bad Rap”

The brain is a part of your body, like eye lens, bones, prostate, etc. Mental Disorders are physical problems, like cataracts, diabetes etc.

Lack of “will power” or “character” are not the cause of brain disorders Nor of cataracts, or osteoporosis, prostate cancer, etc.

The stigmatization of mental disorders is illogical, ignorant, and callous Any one of us could develop a brain disorder tomorrow

Thank you for your attention

Questions? Comments?