UNSANE

in #steemstem6 years ago (edited)


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Late October in western Colorado always came with heavy, wetter snow. The huge snow pack temporarily closing the mountain roads, most times till late May.
The smell of freshly brewed coffee welcomed Anna as she stepped into the closed hospital room where she had spent the last two nights. Mario her sister's son turned the coffee directly from the flask into the cup and handed it to his mother.
If Isabella had seen it coming, Anna had no idea as she watched her sister hit the cup out of her son's hand as she yelled
" get the hell away from me" she yelled and then started to scream for the nurses.

Anna rushed to Mario and hurriedly lifted him out of her reach.
" He's your son Isabella" she said on the top of her voice tearing up.

"He's not my son" she said. Eyes wide and filled with fear.
" That little devil was sent to kill me, I see it in the way he looks at me "
she screamed violently pulling on her iv connection, ripping away the needle that allowed the flow of the saline water into her. It took four nurses to hold her down as they tied her to her bed and rolled her out of the room she continued to scream.

Anna watched in despair, ten year old Mario sobbing in her arms.


The violent behavior of Isabella is experienced in most patients with psychological issues. In my flash fiction, Isabella suffers from FRONTOTEMPORAL DEMENTIA.


It is a neurological disease characterized by the progressive neuronal loss predominantly involving the frontal or temporal lobes, and typical loss of about 70% of spindle neurons.

The areas of the brain degenerating play significant roles in decision making, behavioral control, emotion and language. hence, the display of violence, loss of social skills, speech degeneration in severe cases loss of memory and most cognitive abilities.

CAUSES OF FTD.

FTD is caused by the degeneration of the parts of the brain that control decision making, emotions and behavior as stated earlier. Degeneration occurring mostly in the temporal, insular and frontal regions hence the name FTD.

The severity of the disease and the clinical symptoms coupled with research over the years have led to some important discoveries concerning some questions asked by the families of those who suffer this disease.

WHAT HAPPENS IN FTD ?

Forms of the disease has been discovered and due to the symptoms people with FTD are usually misdiagnosed with Alzheimer's disease, psychiatric problems that may include manic- depression, obsessive-compulsive disease or Schizophrenia.

_ Behavioral variant frontotemporal dementia is characterized by changes in social benavior and conduct, usually with loss of social awareness and poor impulse conduct.

_ Semantic dementia is characterized by loss of semantic understanding, resulting in impaired word comprehension, although speech remains fluent.

_ progressive nonfluent aphasia usually springs forth with difficulties in speech production.

In later stages of FTD the clinical symptoms may overlap as patients struggle with compulsive behaviors and binge eating.Recent findings from MRI research have indicated that eating changes in FTD are associated with atrophy in the right ventral insula, stratium, and orbitofrontal cortex.

There are also movement disorders involved in FTD which may include :-

_ Tremor
_ Rigidity
_ Muscle weakness
_ Difficulty swallowing
_ Muscle spasm.

GENETICS AND CAUSES OF FTD ?

A variety of mutations on several genes linked to specific sub-types of frontotemporal dementia. Frontotemporal lobar degenration is divided into main types. The one involving the accumulation of a brain protein called tau and one involving the protein TDP_43.
Sometimes , the affected parts of the brain contain microscopic abnormal tau protein structures that develop within brain cells. Researchers have confirmed shared genetics and molecular pathways between frontotemporal dementia and amyotrophic lateral sclerosis.

The tau positive FTD with parkinsonism is caused by mutations in the MAPT gene on chromosome 17 that encodes the tau protein. The direct relationship between tau protein mutation and the neuropathology of gene mutations at the splice junction of exon 10 of tau lead to the selective deposition of the repetitive tau in neurons and glia.
The presence of tau deposits in glia is also variable in families with mutations outside of exon 10.

with regard to genetic defects that have been found, repeat expansion in the C9orf72 gene is considered a major contribution to FRONTOTEMPORAL LOBAR DEGENERATION.

DIAGNOSING FTD

THE DIAGNOSIS OF FRONTOTEMPORAL DEGENERATION (FTD) GENERALLY INVOLVES:

Medical history and detailed neurological examination.
Neuropsychological examination are used to assess language, behavior, memory, visual-spatial functions.
Neuroimaging to determine where and how extensively brain regions have atrophied. These neuroimaging studies are: MRI (magnetic resonance imaging), PET (positron emission tomography), and SPECT (single photon emission computed tomography).

Blood tests and lumbar puncture to distinguish diseases that can mimic FTD.

TESTS USED IN THE DIAGNOSIS OF FRONTOTEMPORAL DEGENERATION MAY INCLUDE :-

There are many potential factors that can contribute to changes in cognition, behavior and motor skills. With each test examining these factors, additional information about the patient is obtained that will lead to a more specific and accurate diagnosis. This information can be used by the medical personnel to recommend treatment.

Some tests that may be encountered during a diagnostic work-up, and a brief description of each of these tests.

Neurological exam: A detailed examination of the entire nervous system, including physical and cognitive functioning. An initial evaluation usually takes about an hour and includes:

Obtaining past medical history.
Physical examination– evaluating motor function such as walking, balance, coordination, reflexes, strength, as well as vision and hearing.

Cognitive examination–

Evaluating memory, language, thinking, planning and organizational skills, visuospatial abilities, behavior and mood.
Neurology being a complex field, and there are different specialties even among neurologists; therefore, it is not uncommon for an individual to see more than one neurologist. It is important for an individual to be evaluated by a neurologist experienced with FTD and related neurodegenerative conditions.

Neuropsychological testing:


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Pencil-and-paper tests and interviews that evaluate cognition and mood in order to identify specific areas of strength and weakness. Weaknesses often reflect brain areas that have reduced functioning. Tests assess memory, concentration, problem-solving, basic math and language skills. These tests take several hours to administer and are interpreted by a neuropsychologist. They can differentiate depression from dementia, and can help in the diagnosis of specific types of dementia or brain disorders.

Routine blood work:

Tests for specific chemicals, proteins, hormones and antibodies to detect conditions that can mimic FTD, such as thyroid disease, B12 deficiency, infections such as syphilis or HIV, dehydration, or cancer. These conditions are treated very differently, and some are curable.

MRI (Magnetic Resonance Imaging:

A non-invasive procedure that uses magnets and radio waves to create images of the brain and other organs. MRI is preferred to CT scan for most brain disorders, as it creates images from multiple angles and provides a detailed view of many brain structures not visible by CT scan. Shrinkage of specific regions of the brain that might be suggestive of FTD can be identified by MRI. The procedure involves lying flat and still on a table for several minutes. The scanner makes loud thumping noises, but there is no pain or danger from the magnets. Sometimes contrast dyes are injected into the arm vein to enhance the images.

Lumbar puncture (spinal tap):

This test is used to collect and study cerebrospinal fluid (CSF), the fluid that surrounds the brain and spinal cord. Our bodies make about 500ml (approximately 16 ounces) of CSF each day, but there is space for only about 175 ml (6 ounces). Routine examination of CSF can identify conditions such as rare infections, inflammatory processes, and cancer that can mimic FTD. A lumbar puncture also can help assess the presence of normal pressure hydrocephalus. As the CSF flows around as it bathes the brain, it can pick up some of the misfolded proteins accumulating in the brain that are contributing to neurodegenerative conditions like FTD, and some of these can be measured. The lumbar puncture procedure involves inserting a thin needle into the lower area of the back beneath the spinal cord. It takes only a few minutes to collect the fluid. Patients are allowed to rest for 1 hour following the procedure.

PET (Positron Emission Tomography):

PET scanning takes a picture of brain functioning. A glucose PET scan takes a picture of the amount of glucose absorbed by neurons in specific brain regions. This is helpful because glucose is the main source of energy for neurons, and reduced glucose absorption in a specific brain area reflects reduced functioning of the neurons in that brain area. An amyloid PET scan takes a picture of the amount of amyloid in the brain. Amyloid is a misfolded protein that accumulates with age and may play a prominent role in Alzheimer’s disease. A positive amyloid PET scan thus is more consistent with Alzheimer’s disease than FTD.

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