Caring for individuals suffering from fragile X-associated tremor/ataxia syndrome (FXTAS) can be challenging. Although there are minimal research studies examining the experience of family members who provide care to individuals with FXTAS, family caregivers are at risk of experiencing anxiety, depression, neglect of personal health care needs, employment difficulties, and loss of social support, leading to isolation and subsequent psychiatric problems. This risk may be exacerbated when the caregiver is also raising a child or children with Fragile X syndrome.
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 disorder and information about FXTAS may be challenging to obtain. 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.
Reducing Caregiver Burden
Albeit limited, the few studies reporting caregiver burden in FXTAS highlight the benefits of patients and their families receiving sensitive genetic counseling, detailed education on the progression and management of FXTAS and supportive concrete psychotherapeutic approaches. Psychoeducational programs providing information and strategies around basic caregiving skills including activities of daily living as well as approaches to handling anger or impulsive outbursts may be beneficial in reducing caregiver stress and improving coping skills and relationships. Approaches such as problem solving therapy (PST), cognitive reframing, and multidimensional interventions including a combination of psychoeducation, behavioral problem-solving approaches may be helpful.
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