Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Maslach Burnout Inventory was used to measure burnout among 125 staff members working in community residential facilities for persons with mental retardation in North Dakota. Results showed that a moderate degree of burnout was present for direct-care and supervisory staff members in each of the three subscales of the inventory. In addition, supervisory staff members showed significantly more burnout on the Emotional Exhaustion subscale and significantly less on the Personal Accomplishment subscale than did direct-care staff members. Results were discussed in light of previous findings.
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PMID:Burnout among staff members at community residential facilities for persons with mental retardation. 188 42

Williams-Beuren syndrome (WBS) is a disorder of unknown aetiology. The classical features of the syndrome include a typical ('elfin') facies, mental retardation and heart defects. Myopathy has not so far been part of the spectrum of WBS. We studied six patients with WBS aged 3-25 years, five of whom showed clinical and morphological evidence of myopathy. The clinical manifestations of myopathy included hypotonia in infancy, walking delay, joint contractures, scoliosis, and increased exhaustion on exertion. These symptoms were present in variable expression but part of a typical postural pattern. Examination of muscle biopsies showed lipid storage in four patients and increased variability of fibre size in three. In one patient a muscle biopsy gave normal results. Biochemical investigation in four patients with morphological evidence of lipid storage in muscle revealed muscle carnitine deficiency in three. In addition, enzyme activities of fatty acid beta-oxidation were low in one of two specimens tested. It is concluded that a clinically relevant myopathy is part of the multi-system manifestation of WBS and a clinical trial of carnitine supplementation is justified.
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PMID:Myopathy in Williams-Beuren syndrome. 191 7

Although challenging behaviors have been identified as a source of staff stress, few researchers have directly addressed this relationship. In the present study, 55 teachers and support staff in special schools for children with mental retardation completed questionnaires assessing burnout, coping strategies for challenging behavior, and their exposure to challenging behavior. Results showed that (a) use of maladaptive coping strategies for challenging behaviors constitutes a risk for staff burnout, (b) this risk is in addition to that associated with exposure to challenging behavior, and (c) use of maladaptive coping strategies moderated the impact of exposure to challenging behaviors on emotional exhaustion burnout. Implications for future research and for the support of staff working with individuals who have challenging behaviors are discussed.
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PMID:Coping strategies and the impact of challenging behaviors on special educators' burnout. 1192 69

Microcephalin (MCPH1) is identified as being responsible for the neurodevelopmental disorder primary microcephaly type 1, which is characterized by a smaller-than-normal brain size and mental retardation. MCPH1 has originally been identified as an important regulator of telomere integrity and of cell cycle control. Genetic and cellular studies show that MCPH1 controls neurogenesis by coordinating the cell cycle and the centrosome cycle and thereby regulating the division mode of neuroprogenitors to prevent the exhaustion of the progenitor pool and thereby microcephaly. In addition to its role in neurogenesis, MCPH1 plays a role in gonad development. MCPH1 also functions as a tumor suppressor in several human cancers as well as in mouse models. Here, we review the role of MCPH1 in DNA damage response, cell cycle control, chromosome condensation and chromatin remodeling. We also summarize the studies on the biological functions of MCPH1 in brain size determination and in pathologies, including infertility and cancer.
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PMID:The DNA damage response molecule MCPH1 in brain development and beyond. 2719 93