Publications (4)9.71 Total impact
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Article: Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
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ABSTRACT: Beare-Stevenson syndrome (BSS) is a rare autosomal-dominant condition characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and a prominent umbilical stump. In 1996, two mutations in the fibroblast growth factor receptor 2 gene were found to cause this syndrome, thereby including BSS in the fibroblast growth factor receptor gene-related craniosynostosis spectrum. Until now, 12 patients with fibroblast growth factor receptor 2 gene-related BSS have been described. We report what is to our knowledge the first 2 Dutch patients with this syndrome, both caused by the mutation Tyr375Cys in the fibroblast growth factor receptor 2 gene. The patients exhibited a simplified gyral pattern, an abnormal posterior fossa, and an abnormal hippocampus on cranial magnetic resonance imaging. We discuss the clinical and radiologic findings in fibroblast growth factor receptor 2 gene-related BSS.Pediatric Neurology 04/2011; 44(4):303-7. · 1.52 Impact Factor -
Article: The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?
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ABSTRACT: One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220 kb; ∼28.74 Mb to ∼28.95 Mb). We describe three patients with this deletion and update the manifestations in two sibs who have been described as possibly new entity in this Journal in 1997 [Bakker and Hennekam (1997); Am J Med Genet 70:312-314] and were recently found to have the "atypical 16p11.2 deletion" as well. Patients show a developmental delay, behavioral problems, and unusual facial morphology (prominent forehead, downslanted, and narrow palpebral fissures), and some are obese. We suggest that this "atypical" deletion may turn out to become a microdeletion syndrome that will be recognizable in the future, or at least to show a phenotype that is recognizable in retrospect. As it may no longer be so "atypical," we suggest renaming the entity "distal 16p11.2 deletion," to distinguish it from the common proximal 16p11.2 deletion.American Journal of Medical Genetics Part A 04/2011; 155A(5):1066-72. · 2.39 Impact Factor -
Article: Effects of antidepressant treatment on the quality of daily life: an experience sampling study.
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ABSTRACT: Although some depression trials have included quality of life (QoL) as an outcome measure, assessments were retrospective and relatively infrequent. Because QoL varies in relation to everyday experience, intensive time-sampling approaches may be useful. The experience sampling method (ESM) was used to assess effects of antidepressant treatment on the quality of life, as measured from moment to moment in daily life (mQoL), and related aspects of daily experience. Primary care patients with a DSM-III-R/DSM-IV diagnosis of major depressive disorder were randomly assigned to imipramine (N = 32) or placebo (N = 31) treatment for 6 weeks, with possible prolongation to 18 weeks. A healthy control group (N = 22) provided normative data. Treatment-related increases in frequency and severity of physical complaints, including those not reported to the general practitioner as side effects, were associated with lowered mQoL; this negative association was especially strong in treatment dropouts. Despite greater clinical improvement at week 6, imipramine patients did not report greater increases than placebo patients in mean mQoL ratings. However, imipramine treatment stabilized mQoL fluctuations and led to reductions in time spent "doing nothing." Patients' decisions to prolong treatment depended on clinical improvement, mQoL changes, and specific early side effects. At 18 weeks, remitted patients still showed deficits on ESM daily life measures relative to healthy controls, even though QoL had returned to normal on retrospective measures. ESM provides new insights in the effects of antidepressant treatment on daily life experiences and should therefore be considered as a supplement to conventional instruments in clinical trials.The Journal of Clinical Psychiatry 07/2002; 63(6):477-85. · 5.80 Impact Factor -
Article: Changes in daily life experience associated with clinical improvement in depression
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ABSTRACT: Changes in depressed outpatients' experience of daily activities after 6 weeks of antidepressant treatment were assessed with the experience sampling method (ESM). On the sickness impact profile, treatment responders (HAM-D ≤ 7, n = 12) improved more than nonresponders (n = 9) in the domains of household chores, leisure and social activities. On ESM measures completed 10 × each day for 6 days pre- and posttreatment, responders showed greater increases in time spent in chores and greater decreases in passive leisure time than nonresponders. Responders showed greater increases in positive affect and greater decreases in negative affect during all activities. Thus, ESM provides quantitative evidence of changes in real life time use and subjective experience accompanying clinical improvement.Journal of Affective Disorders.
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Institutions
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2011
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Academisch Medisch Centrum Universiteit van Amsterdam
Amsterdam, North Holland, Netherlands
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2002
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Maastricht University
- Psychiatrie en Neuropsychologie
Maastricht, Provincie Limburg, Netherlands
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