Coping with gastrointestinal endoscopy: self-efficacy enhancement and coping style.

Forty-eight men scheduled for endoscopy were assessed for preferred coping style and assigned to one of four preparation conditions: (a) relaxation plus coping self-efficacy (SE) enhancement, (b) relaxation only, (c) procedural information, and (d) no preparation. It was hypothesized that increases in SE would be associated with better behavioral and self-report assessments of coping with endoscopy, and that coping style would moderate effects of SE enhancement. Hypotheses were largely confirmed. Ss in SE enhancement preparation experienced greater increases in coping SE and greater decreases in distress before and during endoscopy than did other Ss. Changes in coping SE were negatively correlated with changes in anticipatory anxiety, and SE ratings were significantly related to distress during endoscopy. Ss classed as monitors fared most poorly with no-preparation, whereas blunters did most poorly with procedural information.     

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited in a single pedigree with lissencephaly, a more severe disease which affects the male individuals. This clinical entity has been described as X- SCLH/LIS syndrome. Recently we have demonstrated that the doublecortin gene, which is localized on the X chromosome, is implicated in this disorder. We have now performed a systematic mutation analysis of doublecortin in 11 unrelated females with SCLH (one familial and 10 sporadic cases) and have identified mutations in 10/11 cases. The sequence differences include nonsense, splice site and missense mutations and these were found throughout the gene. These results provide strong evidence that loss of function of doublecortin is the major cause of SCLH. The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females.