Caring for individuals suffering from fragile X-associated tremor/ataxia syndrome (FXTAS) can be challenging. Although no research studies have examined the experience of family members who provide care to individuals with FXTAS, it is likely that the stresses associated with caregiving are similar to those experienced by caregivers of patients with other chronic, degenerative disorders, such as Alzheimer's disease or Parkinson disease. Numerous investigators have reported that caregivers of individuals with these diseases are likely to experience depression, fatigue, isolation, and low levels of life satisfaction (Aarsland et al., 1999; Carter et al., 1998; O'Reilly et al., 1996; Teel & Press, 1999). Spouses of affected individuals tend to be particularly vulnerable to the stresses of caring for an individual with a degenerative disorder (Aarsland et al., 1999). Some research shows that the stress of caregiving, and the negative psychological impact on caregivers, increases as the these chronic, degenerative disorders progress (Carter et al., 1998; Fernandez et al., 2001; Schrag et al., 2004).
An individual's levels of motor and cognitive impairment have been found to be important predictors of caregiver distress (Aarsland et al., 1999; Thommessen et al., 2002). The progressive decline in motor functioning and cognitive ability that is seen in FXTAS may be particularly challenging for a caregiver. Gradual deterioration of gross and fine motor abilities suffered by FXTAS patients can result in the need for substantial assistance with activities of daily living, such as walking, getting into and out of a chair or on and off the toilet, getting dressed, and eating. To assist a patient in accomplishing these daily tasks can require tremendous physical effort on the part of the patient's caregiver, who often is an elderly spouse. Patient impairment in these functional skills has been found to be a major contributor to a caregiver's perception of burden (Caap-Ahigren & Dehlin, 2002; Edwards & Scheetz, 2002).
The type of cognitive decline seen in FXTAS may be particularly difficult for caregivers to cope with. As their condition worsens, individuals with FXTAS often develop impairment in what are referred to as executive cognitive abilities, which include the ability to initiate purposeful action and the ability to inhibit inappropriate behavior. Individuals with executive cognitive impairments tend to have trouble independently initiating and completing activities of daily living both because of difficulties with their motor coordination and because cognitive impairment prevents them from instigating or completing these activities. Perhaps more troubling is the degeneration in a patient's ability to control socially unacceptable behavior, such as inappropriate sexual references. Caregivers often feel as though the affected individual, usually a spouse or parent, is not the person he/she used to be.
The stress of caregiving in FXTAS may be compounded by the fact that many physicians are not yet familiar with this newly identified disorder. Getting information about FXTAS may be challenging unless one makes contact with a fragile X support group or a health care provider who is knowledgeable about the disorder. Families affected by FXTAS also may experience the added stress of caring for both a parent disabled by FXTAS and children affected by fragile X syndrome. A network of families affected by disorders related to the fragile X gene can provide an important resource and support network for individuals caring for two generations of family members suffering from fragile X-related disorders.
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