In journal article, Upstate neuropsychologist examines the misdiagnosis of multiple sclerosis
SYRACUSE, N.Y.-- A misdiagnosed case of multiple sclerosis (MS) discovered byUpstate Medical University neuropsychologist Dominic A, Carone, PhD,ABPP-CN, stresses the need for doctors to diligently use differentialdiagnostics--a process to distinguish a particular disease or conditionfrom others that present with similar clinical features. It also servesas a reminder for patients to ask their doctor two very importantquestions: On what criteria is my diagnosis based?” and “Can I have asecond 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 aclinical associate professor of physical medicine and rehabilitation andpsychiatry at Upstate. He is a Diplomate of the American Board ofClinical Neuropsychology and has published numerous peer-reviewedscientific 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 aremistakenly diagnosed with, and treated for, the disorder. In many casesthey are treated for 10 years or longer, causing for them financial,emotional and physical hardship. An MS misdiagnosis also results in aburden on the health care system. The Institute of Medicine in 2015described 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 andsymptoms can mimic a variety of other disorders,” Carone said. “Amisdiagnosis can occur when a health care provider primarily relies oninitial impressions, does not apply formal diagnostic criteria and doesnot adjust diagnostic probabilities based on other availableinformation.”
Carone’s patient is a middle-aged woman who for several years wastreated for MS and for CADASIL, a hereditary and rare form of stroke.For five years, she was prescribed MS disease-modifying medication thathad a debilitating physical effect on her and the cost, of whichresulted in financial hardship for her and her family. Due to a declinein her condition, she was referred to Carone by her neurologist for acognitive and behavioral assessment.
As a neuropsychologist, Carone studies and assesses disorders withinthe brain that can alter behavior, emotional and cognitive function. Bypointing out that MS and CADASIL are not known to co-occur in thescientific literature, that genetic testing showed conclusively that shehad CADASIL, and that numerous clinical features and brain MRI findingswere more consistent with CADASIL than MS, her neurologist eventuallyremoved the MS diagnosis and treated her solely for CADASIL.
“Better understanding is needed among clinicians that MS and CADASILare not known to co-exist, that no association has been found between MSand the NOTCH3 mutations that cause CADASIL, and that neuroimaging andclinical features can help distinguish between the two conditions,”Carone said
He also stresses how this case study highlights howneuropsychological consultation involves more than testing.“Neuropsychologists can help improve diagnostic decision-making and canimprove outcomes by reducing costs to the patient and the health caresystem,” Carone said.