Katie Brandt began seeing changes in behavior in her husband Mike in December 2007. A well-regarded teacher of religious studies at an independent school in Dover, N.H., Mike was “not acting like himself,” as Katie put it. Normally gregarious, he became less talkative and more withdrawn. It was nearly a year and eight misdiagnoses before physicians found the cause of Mike’s strange behavior. The diagnosis was one of the most common forms of early-onset dementia, frontotemporal dementia (FTD). Mike was 29.
It is rare for someone so young to have dementia. More typical is the case of University of Tennessee women’s basketball coach Pat Summitt. Doctors diagnosed her when she was 59. She died June 21 at age 64. But both cases serve as reminders that degenerative brain diseases do not strike just older adults. “Early onset” is defined as under age 65; most often, it strikes people beginning in their early 50s.
A half-dozen diseases account for nearly all cases of early-onset dementia. The two most prevalent, Alzheimer’s disease and FTD, make up approximately 85 percent of them. Other causes include Parkinson’s disease, vascular dementia and Lewy body dementia. Fortunately, scientists have made huge progress in the diagnosis of early dementia, experts said.
“Our field has moved forward tremendously in the past decade,” said Dr. Brad Dickerson, director of the Frontotemporal Disorders Unit at Massachusetts Hospital and Harvard Medical School. “The use of technologically advanced tests, interpreted in the context of a thorough clinical exam performed by an experienced clinician, now enables a very confident diagnosis in many patients living with dementia.”
For example, analysis of cerebrospinal fluid (CSF) has been around for decades, but has been refined. That’s according to Dr. Edward (Ted) Huey, assistant professor of psychiatry and neurology at the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at Columbia University Medical Center.
Commonly, early-onset dementia patients will either be in denial or have no insight into their changed behavior and dispute the need for a checkup.
“We have more data about the markers of dementia. And we know more about the ranges and ratios of the marker proteins of the different dementias. This gives us an important tool to help us diagnose Alzheimer’s,” he said.
Locating the Disease
Perhaps more dramatic are the new radioactive tracers recently introduced for use in positron emission tomography (PET) scans. Those measure the density and location of specific proteins associated with dementia.
While an MRI scan shows the structure of organs, a PET scan is able to show how organs and tissues are working. The tracer is injected into the patient and binds to a specific, dementia-related protein. The PET scan then measures how much of the protein has accumulated in the brain and where.
The other big advance is in the area of cognitive testing. These simple written and oral tests can help reveal the degree and type of cognitive impairment with remarkable accuracy.
“Cognitive tests are very important because they give us diagnostic data and functional information about how a patient is doing,” Huey said.
Especially promising are recently developed tests that measure social cognition. That’s the patient’s ability to pick up on and react appropriately to social cues. This is relevant for patients with FTD, who typically lose this ability. When presented with a line-up of faces showing a range of emotions, someone suffering from some variants of FTD will have great difficulty “reading” them. Someone with Alzheimer’s has a much easier time.
Despite these advances, researchers caution that we’re still a long way from finding a cure for Alzheimer’s and other forms of dementia. “Many basic questions remain,” says Mony de Leon, Ph.D., professor of psychiatry at NYU School of Medicine Center for Brain Health. “The field needs more mechanistic explanations for the biological causes of dementias before truly effective therapies can be developed.”
The Importance of an Early Diagnosis
Getting an accurate, early diagnosis is especially critical with dementia patients under 60. Many have children still at home or in college. They’re in their peak earning years. They may be responsible for a parent’s care.
Lacking a diagnosis and unaware that behavior changes in a partner are due to early-onset dementia, some couples get divorced. Children are confused and hurt when a parent with early-onset dementia is verbally abusive or grows distant. As these workers’ job performance deteriorates, employers fire them for cause, depriving the family of severance and other benefits.
“The economic and emotional costs of a delayed diagnosis can be devastating for a family,” said Jed Levine, executive vice president of Caring Kind. The New York City caregiving organization assists dementia patients and their families.
Early diagnosis also allows patients to collaborate in the decision-making about longer-term care and financial and legal arrangements before they become too cognitively impaired. “It gives the patients and their families a great deal of comfort to be able to make plans together,” said Levine.
It also makes it possible for the individual to take advantage of medication or other treatment.
The challenge of early-onset dementia is the subtlety of the symptoms and the relatively young age of the person displaying them. People with FTD and early-onset Alzheimer’s disease may become apathetic and lose interest in others. Those traits are also commonly associated with depression, anxiety and stress — conditions that account for most of the misdiagnoses.
In addition, younger people are more likely than those over 65 to have an “atypical” form of Alzheimer’s in which memory loss is not the first symptom. Rather, they may have problems with speech, vision, decision-making and planning, according to the Alzheimer’s Society in the UK. Those with FTD usually do not have memory problems until later in their disease. They more commonly exhibit striking changes in personality and behavior. Characteristics include apathy, lack of inhibition, impulsivity, and lack of attention to personal hygiene.
Understanding the Signs
Those best placed to notice the first signs of dementia are family members and close friends. But it can be devastating to suspect that a loved one’s quirks may be signs of dementia.
“It can be scary,” said Ruth Drew, director of family and information services at the Alzheimer’s Association. “If you’re not sure, call your regional Alzheimer’s branch to discuss the symptoms you’re seeing.”
Making the Appointment
Making an appointment for a medical checkup that will have life-changing consequences isn’t easy for the patient or the family. “In some cases, the person with early-onset dementia will have awareness that something isn’t right and want to get to the bottom of it,” said Levine. “It’s almost a relief to find the answer to what’s bothering them.”
More commonly, though, early-onset dementia patients will either be in denial or have no insight into their changed behavior. So they may dispute the need for a checkup. Levine sometimes advises families with a reluctant or stubborn family member to suggest a checkup for other medical conditions. Examples might be hypertension or cholesterol or another common condition that they may have a history of.
Before You See the Doctor
To increase the chances of arriving at an accurate diagnosis, specialists advise families to prepare for the doctor’s appointment ahead of time. Here’s how:
- Keep a log. Before the checkup, make notes of incidents of the family member’s odd behaviors, being as accurate as possible about dates, times and daily patterns.
- Research family history. Between 10 and 30 percent of dementia patients have a family history of it, indicating that they might carry one or more genes associated with one of the dementias. Ask family members if they recall signs of dementia in grandparents or other relatives.
- Be patient. Even a timely, accurate diagnosis is a multi-step process. A primary care internist will conduct a medical exam that includes a cognitive function tests and will look for markers of conditions that mimic dementia. As many as 9 percent of suspected cases of dementia are due to reversible causes. These include vitamin deficiencies, thyroid malfunction and other treatable conditions. If the doctor cannot exclude dementia, she’ll refer the patient to a neurologist who will conduct more tests, including an MRI and PET scans.
- Call for help. The Alzheimer’s Association (800-272-3900) and The Association for Frontotemporal Degeneration (866-507-7222 ) maintain 24/7 phone lines to assist patients and families confronting these difficult decisions. Their knowledgeable and experienced staffs can be supportive and helpful.
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