Rethinking fatigue in Gaucher disease.

BACKGROUND: Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. Along with visceral, hematologic, and bone manifestations, patients may experience chronic fatigue resulting in functional disability and reduced quality of life. Management of the disease includes therapeutic intervention, supportive therapies, and regular monitoring of all clinically relevant disease signs and symptoms. However, current practice guidelines do not include measurement of fatigue or therapeutic goals for fatigue. OBJECTIVE: To provide insight regarding key considerations for fatigue in GD. METHODS: We conducted a systematic PubMed literature search and an exploratory, hypothesis-generating survey regarding fatigue in GD. RESULTS: Our literature search resulted in 19 publications. Of these, 6 were identified that assessed fatigue, including 2 that used specific fatigue assessment instruments. In our survey involving 14 patients with Type 1 GD and 19 physicians, patients ascribed greater importance to fatigue than other disease parameters, while physicians placed more emphasis on objective measures of visceral and hematologic disease manifestations. CONCLUSIONS: Collectively, the results of our literature analysis and survey underscore the need for further investigation and in-office evaluation of fatigue in patients with GD, which will require a reliable, validated, and disease-specific instrument. Criteria for clinically significant fatigue in patients with GD should be established along with the development of a fatigue scale specifically designed for this patient population to provide a more objective means to potentially incorporate fatigue assessment into routine monitoring practices.

Neuropsychology of first-episode schizophrenia: initial characterization and clinical correlates.

OBJECTIVE: Neuropsychological impairments are well documented in schizophrenia and are important targets of treatment. Information about the severity and pattern of deficits after treatment for the first psychotic episode and about relationships between these deficits and syndromal characteristics remains limited. METHOD: Comprehensive neuropsychological assessments including 41 individual tests were given to 94 patients with first-episode schizophrenia after initial stabilization of psychosis and to a comparison group of 36 healthy volunteers. Profiles of neuropsychological deficits and the relationship of deficits to sex and handedness were examined. Correlations of neuropsychological deficit with a broad range of historical and clinical characteristics, including outcome, were explored. RESULTS: Patients had a large generalized neuropsychological deficit (1.5 standard deviations compared to healthy volunteers). Patients also had, superimposed on the generalized deficit, subtle relative deficits (less than 0.5 standard deviation compared to their own average profile) in memory and executive functions. Learning/memory dysfunction best distinguished patients from healthy individuals; after accounting for this difference, only motor deficits further distinguished the groups. Patients with higher neuropsychological ability had only memory deficits, and patients with lower ability had both memory and executive deficits. No sex differences were observed beyond the normal advantage for men in motor speed. Dextral patients had less severe generalized deficit. Severity of residual symptoms was associated with greater generalized deficit. Executive and attentional deficits were most linked to global functional impairment and poor outcome. CONCLUSIONS: The results document a large generalized deficit, and more subtle differential deficits, in clinically stabilized first-episode patients. Learning/memory deficits were observed even in patients with less severe generalized deficit, but the pattern was unlike the amnestic syndrome and probably reflects different mechanisms. Executive and attentional deficits marked the more severely disabled patients, and may portend relatively poor outcome. Failure to develop typical patterns of cerebral dominance may increase the risk for greater generalized deficit.

The effect of parental traumatic brain injury on parenting and child behavior.

OBJECTIVES: To examine (1) the parenting skills of individuals with traumatic brain injury (TBI) and their spouses, (2) the effects of parental TBI on children, and (3) the effects of parental TBI on levels of depression for all family members. DESIGN: Independent two-tailed t tests and Pearson chi-square analyses were utilized to compare parents with TBI versus parents without TBI, spouses of parents with TBI versus spouses of parents without TBI, and children of parents with TBI versus children of parents without TBI. SETTING: Urban, suburban, and rural New York State. PARTICIPANTS: 32 families participated in the study; in 16 families one parent had a TBI and in the remaining 16 families, no parent had a TBI. Eighteen children from families with parental TBI and 26 children from families without TBI were interviewed. On average, parents with TBI were 9 years post-onset of injury at the time of interview. MAIN OUTCOME MEASURES: The parents' battery explored parents' perspectives of their own parenting skills (Parent Behavior Form, Parent Practices Questionnaire, Parenting Dimensions Inventory), their mood (Beck Depression Inventory), and the behaviors of their children (Children's Problem Checklist, Behavior Rating Profile). The child's battery tapped the children's perspective of their own behaviors (Behavior Rating Profile), their mood (Children's Depression Inventory), and the parental abilities of both parents (Parent Behavior Form, Parent Practices Questionnaire). RESULTS: Although parents with TBI and their spouses were similar to their comparison group in many parenting skills, parents with TBI reported less goal setting, less encouragement of skill development, less emphasis on obedience to rules and orderliness, less promotion of work values, less nurturing, and lower levels of active involvement with their children. Spouses of individuals with TBI, compared to their counterparts, reported less feelings of warmth, love, and acceptance toward their children. Children from families in which a parent had a TBI perceived both parents as more lax in their discipline, with the parent without TBI perceived as less actively involved in parenting roles. No differences in the frequency of behavioral problems were found between children of parents with TBI and children of parents without TBI. Parents with TBI and their children experienced more symptoms of depression relative to their respective comparison groups. CONCLUSION: Parental TBI has select consequences for all family members: individuals with TBI, their spouses, and their children. Prospective clinical evaluations of family members and proactive interventions to maximize family adjustment and minimize affective distress are indicated.