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March 17, 2017
Doretta Royer 315 464-4833

In journal article, Upstate neuropsychologist examines the misdiagnosis of multiple sclerosis

SYRACUSE, N.Y.— A misdiagnosed case of multiple sclerosis (MS) discovered by Upstate Medical University neuropsychologist Dominic A, Carone, PhD, ABPP-CN, stresses the need for doctors to diligently use differential diagnostics—a process to distinguish a particular disease or condition from others that present with similar clinical features. It also serves as a reminder for patients to ask their doctor two very important questions: On what criteria is my diagnosis based?” and “Can I have a second opinion?”

Carone’s case study was published last August in the journal Applied Neuropsychology: Adult. It also was referenced in an article titled “Probing the misdiagnosis of multiple sclerosis,” published in MedPage Today. Carone is coordinator of the Neuropsychology Assessment Program and a clinical associate professor of physical medicine and rehabilitation and psychiatry at Upstate. He is a Diplomate of the American Board of Clinical Neuropsychology and has published numerous peer-reviewed scientific articles and a book chapter on multiple sclerosis.

According to scientific literature, an MS misdiagnosis is not uncommon. A 2016 study by Andrew J. Solomon, MD, et al, published in the journal Neurology, states that an estimated 5 to 10 percent of patients treated for MS are mistakenly diagnosed with, and treated for, the disorder. In many cases they are treated for 10 years or longer, causing for them financial, emotional and physical hardship. An MS misdiagnosis also results in a burden on the health care system. The Institute of Medicine in 2015 described the need to study MS misdiagnosis as a “moral professional, and public health imperative.”

“MS is a disease of the central nervous system whose signs and symptoms can mimic a variety of other disorders,” Carone said. “A misdiagnosis can occur when a health care provider primarily relies on initial impressions, does not apply formal diagnostic criteria and does not adjust diagnostic probabilities based on other available information.”

Carone’s patient is a middle-aged woman who for several years was treated for MS and for CADASIL, a hereditary and rare form of stroke. For five years, she was prescribed MS disease-modifying medication that had a debilitating physical effect on her and the cost, of which resulted in financial hardship for her and her family. Due to a decline in her condition, she was referred to Carone by her neurologist for a cognitive and behavioral assessment.

As a neuropsychologist, Carone studies and assesses disorders within the brain that can alter behavior, emotional and cognitive function. By pointing out that MS and CADASIL are not known to co-occur in the scientific literature, that genetic testing showed conclusively that she had CADASIL, and that numerous clinical features and brain MRI findings were more consistent with CADASIL than MS, her neurologist eventually removed the MS diagnosis and treated her solely for CADASIL.

“Better understanding is needed among clinicians that MS and CADASIL are not known to co-exist, that no association has been found between MS and the NOTCH3 mutations that cause CADASIL, and that neuroimaging and clinical features can help distinguish between the two conditions,” Carone said

He also stresses how this case study highlights how neuropsychological consultation involves more than testing. “Neuropsychologists can help improve diagnostic decision-making and can improve outcomes by reducing costs to the patient and the health care system,” Carone said.

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