Charles E. Schwartz

Learn More
Patients confronted with a life-threatening or chronic disease are faced with the necessity to accommodate to their illness. An important mediator of this adaptation process is 'response shift' which involves changing internal standards, values and the conceptualization of quality of life (QOL). Integrating response shift into QOL research would allow a(More)
The impact of health state changes on an individual's quality of life (QOL) has gained increased attention in social and medical clinical research. An emerging construct of relevance to this line of investigation is response shift phenomenon. This construct refers to the changes in internal standards, in values, or in the conceptualization of QOL which are(More)
BACKGROUND Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS We tested for the presence of microdeletions and microduplications at a specific region of(More)
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome inactive and half with the maternally derived X chromosome inactive. Significant departures from such a random pattern are hallmarks of a variety of clinical(More)
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional(More)
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is(More)
Neuroligins are postsynaptic membrane cell-adhesion molecules which bind to beta-neurexins, a family of proteins that act as neuronal cell surface receptors. To explore the possibility that structural variants in the beta-neurexin genes predispose to autism, the coding regions and associated splice junctions of three beta-neurexin genes were scanned with(More)
Mutations in the creatine transporter gene, SLC6A8 (MIM 30036), located in Xq28, have been found in families with X-linked mental retardation (XLMR) as well as in males with idiopathic mental retardation (MR). In order to estimate the frequency of such mutations in the MR population, a screening of 478 males with MR of unknown cause was undertaken. All 13(More)
The daily rhythm in melatonin levels is controlled by cAMP through actions on the penultimate enzyme in melatonin synthesis, arylalkylamine N-acetyltransferase (AANAT; serotonin N-acetyltransferase, EC ). Results presented here describe a regulatory/binding sequence in AANAT that encodes a cAMP-operated binding switch through which cAMP-regulated protein(More)
OBJECTIVE To assess the psychometric properties of a measure of self-efficacy in people with multiple sclerosis (MS). DESIGN Cross-sectional study by mail with retest. SETTING MS Clinic registry of a large Boston teaching hospital . PATIENTS 141 MS patients representing a broad range of disability. MAIN OUTCOME MEASURES The MS Self-Efficacy Scale(More)