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   EARLY-ONSET FAMILIAL AD   
   Diagnosis of Early-onset Alzheimer Disease   
      
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   By Gabrielle Strobel   
      
   "The neurologist diagnosed conversion disorder (see Medline). I should not   
   have believed that. We went to counseling sessions for a year but nothing   
   happened."   
    —Caregiver.   
      
   Families with eFAD tell stories of being misdiagnosed because their doctors   
   had ruled out the possibility of AD in people who are so young (see "A   
   Diagnostic Odyssey"), or simply did not consider it seriously. "My brother's   
   first symptoms were    
   personality changes, weight gain, loss of physical coordination, and then   
   short-term memory loss. We thought those signs would be enough for him to be   
   diagnosed correctly given that his mother and uncle also had had early-onset   
   AD. But still it took    
   nearly two years of neurological assessments before the doctors would give my   
   brother his diagnosis," an unaffected sibling said. Ironically, AD specialists   
   say that provided the doctor is attuned to AD occurring in younger people,   
   diagnosing eFAD can    
   actually be easier than diagnosing LOAD. Elderly patients are more likely to   
   have other medical conditions that can cause dementia, making diagnosis   
   trickier. For example, cardiovascular disease and diabetes are very common in   
   older people, and can cause    
   symptoms that overlap with AD. In younger patients, this is less likely to be   
   the case. A main challenge in diagnosing eFAD is to distinguish it from other   
   types of dementia that begin in middle age, for example, frontotemporal   
   dementias such as Pick    
   disease.   
      
   AD is defined by the presence of plaques and tangles in the brain. Strictly   
   speaking, a clinical diagnosis can only be confirmed by examination of the   
   brain tissue, typically by autopsy after death. In practice, however,   
   physicians who are experienced    
   with AD, particularly those at academic medical centers, can provide a   
   clinical diagnosis of AD during life with an accuracy rate of 90 percent or   
   better. This is not true everywhere. Some studies have documented that   
   dementia is often overlooked in    
   community care settings (Callahan et al., 1995; Ganguli et al., 2004). "Some   
   practicing physicians in the community may not have the experience, awareness,   
   or time to detect AD, and hence many people with AD remain undiagnosed and   
   untreated," says John    
   Morris, an eminent AD clinician-researcher at Washington University's   
   Alzheimer Disease Research Center in St. Louis, Missouri. "Proper diagnosis   
   may be even more difficult for early-onset AD, as some practicing physicians   
   may not be aware that AD can    
   develop in mid-life. The key to diagnosis is to find a physician who is   
   interested and experienced in dementia." Morris recommends that families who   
   are concerned about eFAD seek care at a university hospital with an AD   
   research center or a specialized    
   memory clinic. Families who live too far away from such a center may want to   
   ask their local chapter of the Alzheimer Association for recommendations of   
   physicians with a special interest in dementia.   
      
   What Are Early Signs?   
   Dementia is defined as the decline of cognitive functions including memory, as   
   compared to the person's previous level of function. Dementia of the Alzheimer   
   type is insidious in its onset, predictable in its downward progression, and   
   irreversible (at    
   least with treatments that are currently available). The first signs of eFAD   
   are very similar to those of late-onset Alzheimer's. The sequence in which   
   signs appear varies from person to person. Typical signs include the following:   
      
   Personality changes, such as brusqueness and insensitivity    
   Frequent lapses of memory, especially of recent memories    
   Forgetting appointments or the names of colleagues at work    
   Unsettling moments of disorientation in previously familiar places    
   Being unable to find the way home    
   Becoming confused about familiar tasks such as handling money or placing a   
   call    
   Difficulty finding words    
   Difficulty with voluntary movements, physical coordination    
   Struggling to learn new things and adapting to changes at home or at work    
   Losing interest in activities that were enjoyed previously    
   Withdrawing from social contact; depression    
   Mood swings, paranoia and fearfulness   
      
   Occasionally, a person's symptoms may also include insomnia, verbal or   
   physical outbursts, sexual disorders, gait disorders, and weight loss. The   
   Alzheimer's Association has a helpful list of 10 warning signs.   
      
   Spouses, relatives, or colleagues at work are often the first to notice that   
   something is changing in a person who is developing AD. In other cases, the   
   person him/herself may know early on that something is wrong (see first-person   
   account of early-stage    
   eFAD). People who have already seen a parent and perhaps a sibling succumb to   
   the disease are often extremely vigilant about any potential symptoms.   
   Frequently, however, the affected person initially ignores or denies the   
   presence of a problem. Many try    
   to blame the symptoms on stress and overwork.   
      
   Diagnosis—What to Expect   
   To diagnose eFAD, the doctor follows the same guidelines as in LOAD. These are   
   the following:   
      
   Examining for the presence of AD symptoms    
   Ruling out other possible causes of dementia   
      
   In addition, the doctor will ask about a family history of early-onset AD.   
   Patients with eFAD often clearly remember having a parent with dementia, and   
   that helps to diagnose eFAD at an earlier stage. Even if there is a family   
   history, however, the    
   neurologist or psychiatrist must still exclude other potential causes. This is   
   important because even if people have an eFAD gene, this does not mean that   
   all of their symptoms are due to the gene. They could still have   
   hypothyroidism, vitamin B12    
   deficiency, or another underlying problem that is treatable. In certain cases,   
   the doctor may offer genetic testing to confirm the diagnosis.   
      
   Diagnosis—The Standard Process   
   Here are some typical steps you can expect during the diagnostic exams:   
      
   Medical history, including separate interviews with an informant/relative and   
   the patient    
   Clinical examination, including the following:   
      
   Neurologic examination, i.e., a check on sensory and motor systems (cranial   
   nerves, reflexes, gait, coordination, etc.) and brief assessment of mental   
   status (orientation, attention, recent recall, calculation, naming,   
   understanding, reading, writing,    
   drawing, etc.)   
      
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