scholarly journals Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

2014 ◽  
Vol 17 (5) ◽  
pp. 396-399 ◽  
Author(s):  
Ilaria Gandin ◽  
Flavio Faletra ◽  
Francesca Faletra ◽  
Massimo Carella ◽  
Vanna Pecile ◽  
...  
2019 ◽  
Vol 19 (7) ◽  
pp. 1022-1031 ◽  
Author(s):  
Paula D. Cebrián ◽  
Omar Cauli

Background: Many neurological disorders lead to institutionalization and can be accompanied in their advanced stages by functional impairment, and progressive loss of mobility, and cognitive alterations. Objective: We analyzed the relationship between functional impairment and cognitive performance and its related subdomains in individuals with Parkinson’s disease, Alzheimer’s disease accompanied by motor dysfunction, and with other neurological disorders characterized by both motor and cognitive problems. Methods: All participants lived in nursing homes (Valencia, Spain) and underwent cognitive evaluation with the Mini-Mental State Examination; functional assessment of independence in activities of daily living using the Barthel score and Katz index; and assessment of mobility with the elderly mobility scale. Results: The mean age of the subjects was 82.8 ± 0.6 years, 47% of the sample included individuals with Parkinson’s disease, and 48 % of the sample presented severe cognitive impairment. Direct significant relationships were found between the level of cognitive impairment and functional capacity (p < 0.01) and mobility (p < 0.05). Among the different domains, memory impairment was not associated with altered activities of daily living or mobility. The functional impairment and the risk of severe cognitive impairment were significantly (p<0.05) higher in female compared to male patients. Among comorbidities, overweight/obesity and diabetes were significantly (p < 0.05) associated with poor cognitive performance in those individuals with mild/moderate cognitive impairment. Conclusion: In institutionalized individuals with movement disorders there is an association between functional and cognitive impairment. Reduction of over-weight and proper control of diabetes may represent novel targets for improving cognitive function at such early stages.


2018 ◽  
Vol 46 (2) ◽  
pp. 514-520
Author(s):  
Brandon Hamm ◽  
Bryn S. Esplin

Both law and medicine rely on self-regulation and codes of professionalism to ensure duties are performed in a competent, ethical manner. Unlike physicians, however, judges are lawyers themselves, so judicial oversight is also self-regulation. As previous literature has highlighted, the hesitation to report a cognitively-compromised judge has resulted in an “opensecret” amongst lawyers who face numerous conflicts of interest.Through a case study involving a senior judge with severe cognitive impairment, this article considers the unique ethical dilemmas that cognitive specialists may encounter when navigating duties to patient, society, and the medical profession, without clear legal guidance.Systemic self-regulatory inadequacies in the legal profession are addressed, as well as challenges that arise when trying to preserve the trust and dignity of an incapacitated patient who must fulfill special duties to society.Ultimately, because of their unique neurological expertise and impartial assessments, we submit that allowing cognitive specialists to submit their assessments to an internal judiciary board may act as an additional check and balance to ensure the fair and competent administration of justice.


Author(s):  
Anna J. Moyer ◽  
Roger H. Reeves

Is intellectual disability a treatable feature of persons with Down syndrome? Researchers have made tremendous progress in the last 30 years, from creating the first mouse model of Down syndrome to completing the first major clinical trial for cognitive impairment in people with Down syndrome. Until recently, normalizing brain development and function seemed too lofty a goal, and indeed, even proposing a candidate therapy requires answering a number of difficult questions. How does trisomy 21, a molecular diagnosis, cause the clinical phenotypes of Down syndrome? When, where, and how do trisomic genes act to disrupt normal development and which genes are involved with which outcomes? Which brain regions and behaviors are most impaired? Is there an early developmental window of time during which treatments are most effective? This article discusses how animal models such as laboratory mice can be used to understand intellectual disability and to develop new treatments for cognitive impairment.


2006 ◽  
Vol 14 (7S_Part_14) ◽  
pp. P786-P787
Author(s):  
Anne Murray ◽  
Christine M. Burns ◽  
Yelena Slinin ◽  
David Tupper ◽  
Cynthia Davey ◽  
...  

Author(s):  
R.I. Munn ◽  
K. Farrell

ABSTRACT:Paralysis induced by neuromuscular blocking agents facilitates ventilation of seriously ill patients but may preclude clinical recognition of seizures. We describe the occurrence of severe cognitive impairment in a 14-year-old girl in whom status epilepticus was recognized only when pancuronium was withdrawn after 14 hours of paralysis. This patient emphasizes a potential danger of paralysis from drugs in patients with acute cerebral dysfunction.


Author(s):  
Duncan Robertson ◽  
Kenneth Rockwood ◽  
Paul Stolee

ABSTRACTA mental status questionnaire (MSQ) developed tor use in surveys of the non-institutionalized elderly has been validated against clinical assessment. The MSQ identities moderate and severe cognitive impairment in the elderly. However, using the suggested scoring subjects with mild impairment cannot be separated from normals.The test is short, acceptable and reproducible and rate for false-positives and false-negatives fall well within acceptable limits for use in estimating the prevalence of dementia in the non-institutionalized elderly population.


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