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How to Determine a Diagnosis

The doctor or medical professional should first discuss the signs and symptoms of the condition with the patient. You may also be asked to order follow-up tests.

A correct diagnosis, after excluding other explanations, is crucial for the successful management or treatment of any disease. Early intervention becomes more critical as new medical treatments are developed. The earlier patients and caregivers receive an accurate diagnosis, regardless of the medical treatment, the faster they can plan future care. These are some of the steps a person goes through when evaluating for memory problems, behavioral disorders, or other related issues.

Neurological Exam and History

A comprehensive evaluation is required because memory loss, behavior disorders, and other related problems are complex. Patients are assessed by UCSF Memory and Aging Center nurses and neuropsychologists and undergo extensive assessments. These assessments can take several hours. In every case, the caregiver’s information is requested. It may take two or three visits to diagnose the cause of symptoms and prescribe treatment.

The medical team in each patient’s evaluation meets after the review to discuss the diagnosis and possible treatments. After the meeting, The group will discuss its findings with the patient and family. In some cases, the diagnosis may be delayed until further information is collected from brain imaging or blood tests.

Neuropsychological Testing

The clinical evaluation of an individual is enhanced by neuropsychological testing. These tests assess behavior, language and visuospatial skills, memory and abstraction, planning, mental control and motor skills, and intelligence. These patterns can help determine which parts of the brain function well.

  • A person with Frontotemporal Dementia may still have normal visual and memory functions. Abstract thinking, word creation, motivation, and the ability to follow the rules can be affected.

Lab Tests

Some blood tests can evaluate treatable conditions that may contribute to memory or thinking changes. Some of the standard blood tests ordered to diagnose someone who has experienced changes in their thinking or memory are CBC (completed blood count), CMP (comprehensive metabolic panel), TSH (thyroid-stimulating hormone), vitamin B12, and HIV.

  • A Patient’s Guide to lab testing for a Dementia Evaluation

Neuroimaging

Structural Scans

Magnetic resonance imaging (MRI) is one of the best tests to evaluate dementia. MRI produces images by using radio waves and magnetic fields but no X-rays. MRIs are non-invasive, considered safe, and can be performed by anyone. However, some people with metal implants or cardiac pacemakers cannot undergo an MRI. If you are worried about the magnet, talk to your doctor. The tube-like shape of the scanner or the loud noises can cause anxiety and claustrophobia in some people. If you need sedation, it is available, but relaxation methods like deep breathing and visualization can help. Some MRI scanners let you watch a film or listen to music. You must remain as still as possible to get the best images.

The CT scan produces images that are cross-sectional of your head or body. It is similar to an MRI scan but does not have the same precision. The scans usually last a few moments, and you must lie still. It is normal to hear clicking and whirring noises while undergoing this test. You will be exposed to X-ray radiation briefly to create the CT image. Discuss any concerns with your doctor.

Functional Scans

A SPECT scan reveals how blood flows in the brain’s arteries. The radioactive tracer is injected into a vein of the arm. The scanner then detects its movement through the brain to compute brain activity. Typically, brain areas that are affected by disease show reduced activity. You will need to remain as still as possible during any neuroimaging procedure for the machine to take accurate images. Drink plenty of water after the scan. The radioactive tracer is mainly eliminated from your body via urine within hours of your SPECT scan. Speak to your doctor about any concerns you have regarding your radiation exposure during a scan.

Functional MRI is a type of scan that can be done on an MRI scanner. It displays changes in blood circulation in the brain. This represents brain areas that use more or less blood for specific tasks. The equipment and experience are similar to a structural MRI.

PET scans measure the metabolic activity (energy usage) in your brain to determine the movement of the tissues. PET scans combine a brain camera and radioactive material, similar to a SPECT. The tracer allows doctors to monitor how tissues use and absorb different chemicals. A tracer is injected 30 to 45 minutes before the scan. After the tracer reaches your brain, you will lie on a table that moves slowly in the scanner. Your doctor can detect metabolic changes in your brain to determine which parts are healthy and which areas are dysfunctional. Keep as still as you can so the machine gets accurate images. You may be asked to do certain things, such as reading or talking, to activate specific parts of your brain. Drink plenty of water after the scan to flush any tracer out. PET Amyloid imaging can determine if the patient has an amyloid buildup, a sign of Alzheimer’s disease. Developing new tracers that can show the accumulation of tau protein is still in progress, but they have yet to be available.

Cerebrospinal Fluid (CSF) Exam

The doctor will collect cerebrospinal liquid (CSF, which is the watery fluid that surrounds the brain and spinal cord) through a lumbar tap (lumbar puncture), in which a skinny needle will be gently inserted between the vertebrae that form your spine. Usually, the procedure is performed in a doctor’s office. It takes 30-45 minutes, and it’s important to stay still during that time. After the process, you should drink lots of fluids to prevent “lumbar-puncture headache.” Tell your doctor immediately if you develop a headache after the lumbar puncture. There are ways to get rid of it.

After the CSF is collected, various tests can be ordered to rule out or investigate multiple conditions. A high white blood cell count may indicate an infection or inflammation. Neuron-specific Enolase (NSE) and total Tau Protein (T-tau) are also CSF proteins that can be tested. The data suggest that MRI and PET tests are more effective at identifying disease biomarkers, but CSF testing may indicate rapid damage to brain nerve cells.

  • CSF tests should be done in all cases of rapidly progressing dementia. CSF tests are standard in people with Creutzfeldt-Jakob Disease, except for a slight increase in total protein. Your doctor will consider other neurological conditions, such as infections like encephalitis if there is a high white blood cell count.
  • The scientific literature has reported that although we have not yet detected prions in CSF, elevated levels of 14-3-3 in CSF can support a CJD diagnosis. The UCSF doctors don’t think this test is an excellent diagnostic tool for CJD because it can give a false-positive result in many cases. Only half of the patients with CJD diagnosed at UCSF had an elevated 14-3-3. UCSF doctors diagnose CJD in only about 1/3 of the patients referred with elevated 14-3-3 proteins. These other diagnoses can be treated in many cases.

The Memory and Aging Center also relies on lumbar punctures to support its research. CSF obtained through lumbar punctures can be used to measure human brain markers. CSF markers are now reliable for the early detection of Alzheimer’s disease, and we have many other features in exploratory stages. This will help us understand how the human brain ages and how neurodegenerative diseases unfold. Please read the FAQs below or click here if you’re interested in participating in a lumbar prick as part of a study.

Lumbar Puncture FAQ

EEG

Electroencephalograms (EEGs) show patterns of electrical activity generated by your brain, as recorded by electrodes on your scalp. The procedure is minimally uncomfortable and non-invasive (the electrodes can scratch you or itch but are kept in place by a sticky paste). The electrodes don’t generate electricity; they record the electrical activity of your brain. For a good EEG, you must remain still and close your eyes for the 20-40 minute recording.

  • The EEG of people with Frontotemporal Dementia is normal or shows a mild frontal slowing. A normal EEG doesn’t mean that behavioral symptoms directly result from a mental illness.

Before diagnosing neurodegenerative disease, you should rule out other issues.

  • Drug reactions. Some drugs have side effects that mimic dementia symptoms. A single dose of medicine can trigger a similar response in older people or those whose liver cannot remove the drug properly. Even interactions between two or more medications can cause reversible dementia symptoms.
  • Metabolic abnormalities. Apathy and Depression can be caused by hypothyroidism (low thyroid function). Hypoglycemia is a condition where there’s not enough sugar in your bloodstream. This can lead to confusion or personality change. Cognitive changes can also be caused by pernicious anemia, which is caused by a lack of vitamin B-12. Changes in sodium, calcium, or heavy metals can also cause dementia.
  • Nutritional deficiencies. Alcoholism and chronic alcoholism are associated with thiamin deficiencies (vitamin B-1), resulting in mental impairment. A severe drought in niacin, vitamin B-3, can cause Pellagra. This neurological disease has features of dementia. Dehydration can also cause confusion, which may look like dementia.
  • Psychological or emotional problems. Confusion, apathy, and forgetfulness associated with Depression can be mistaken as dementia, especially in older people. Apathy and emotional withdrawal are common among people with Frontotemporal Dementia. This can lead to a misdiagnosis. People with FTD often say they are happy when asked about their moods. Bipolar disorders, Schizophrenia, and Obsessive-Compulsive Disorder, are also misdiagnosed.
  • Infections. Both meningitis and encephalitis are brain infections or membranes that cover the brain. They can cause confusion, sudden dementia, or memory loss. Untreated syphilis may cause brain damage and dementia.
  • Normal pressure hydrocephalus. When cerebrospinal fluid builds up in the ventricles, the brain tissue becomes compressed even if the fluid pressure is normal. This can lead to dementia. If detected in time, this condition can be treated by draining excess fluid through a tube.

 

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