scholarly journals TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Brain ◽  
2014 ◽  
Vol 137 (10) ◽  
pp. 2657-2663 ◽  
Author(s):  
Jérôme Delplanque ◽  
David Devos ◽  
Vincent Huin ◽  
Alexandre Genet ◽  
Olivier Sand ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cognitive Impairment ◽  
Spinocerebellar Ataxia ◽  
Severe Cognitive Impairment

Dramatic Improvement in down Syndrome—Associated Cognitive Impairment with Donepezil

2005 ◽  
Vol 39 (3) ◽  
pp. 563-566 ◽  
Author(s):  
Tatsuro Kondoh ◽  
Nagisa Amamoto ◽  
Tomoki Doi ◽  
Hitomi Hamada ◽  
Yoji Ogawa ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Cognitive Impairment ◽  
Adverse Effects ◽  
Junior High School ◽  
Dramatic Improvement ◽  
Progressive Dementia ◽  
Severe Cognitive Impairment ◽  
Soft Stool

OBJECTIVE: To report 2 cases of patients with Down syndrome and severe cognitive impairment who gained dramatic improvements in quality of life (QOL) upon donepezil treatment. CASE SUMMARIES: Case 1. A 38-year-old woman with Down syndrome, diagnosed with secondary progressive dementia when her mental state had deteriorated rapidly after graduation from junior high school, started donepezil treatment. The loading dose was 3 mg/day and was increased to 5 mg/day for maintenance. One month after the dose was increased, adverse effects such as soft stool and urinary incontinence appeared. These adverse effects disappeared when the dose was decreased again to 3 mg/day. Her QOL improved dramatically with this minimal dose. She recovered verbal and written communication skills that she had lost for the past 21 years. Case 2. A 22-year-old man with Down syndrome, who had been diagnosed as having severe mental retardation, was put on donepezil therapy. Both loading and maintenance doses were 3 mg/day. His QOL had also dramatically improved, with some recovery in verbal communication. Transient agitation/violence and transient muscle weakness appeared during the first few months of treatment. DISCUSSION: Patients with Down syndrome may be more sensitive to donepezil therapy than others and may benefit from this medicine, although they may also have adverse effects more frequently. CONCLUSIONS: Donepezil may be a useful medicine for some patients with Down syndrome with severe cognitive impairment or mental retardation if the adverse effects are manageable.

Analysis of Functional and Cognitive Impairment in Institutionalized Individuals with Movement Disorders

2019 ◽  
Vol 19 (7) ◽  
pp. 1022-1031 ◽  
Author(s):  
Paula D. Cebrián ◽  
Omar Cauli
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cognitive Impairment ◽  
Activities Of Daily Living ◽  
Cognitive Performance ◽  
Functional Impairment ◽  
Movement Disorders ◽  
Neurological Disorders ◽  
Daily Living ◽  
Severe Cognitive Impairment

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.

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 ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Intellectual Disability ◽  
Runs Of Homozygosity ◽  
Severe Cognitive Impairment

The Boundaries of “Good Behavior” and Judicial Competence: Exploring Responsibilities and Authority Limitations of Cognitive Specialists in the Regulation of Incapacitated Judges

2018 ◽  
Vol 46 (2) ◽  
pp. 514-520
Author(s):  
Brandon Hamm ◽  
Bryn S. Esplin
Keyword(s):  
Cognitive Impairment ◽  
Conflicts Of Interest ◽  
Ethical Dilemmas ◽  
Medical Profession ◽  
Self Regulation ◽  
Legal Profession ◽  
Previous Literature ◽  
Severe Cognitive Impairment ◽  
Administration Of Justice

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.

P2-280: METABOLIC FACTORS ASSOCIATED WITH MODERATE TO SEVERE COGNITIVE IMPAIRMENT IN CHRONIC KIDNEY DISEASE

2006 ◽  
Vol 14 (7S_Part_14) ◽  
pp. P786-P787
Author(s):  
Anne Murray ◽  
Christine M. Burns ◽  
Yelena Slinin ◽  
David Tupper ◽  
Cynthia Davey ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Cognitive Impairment ◽  
Kidney Disease ◽  
Metabolic Factors ◽  
Factors Associated ◽  
Severe Cognitive Impairment

scholarly journals Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study

2012 ◽  
Vol 58 (3) ◽  
pp. 590-598 ◽  
Author(s):  
David E Godler ◽  
Howard R Slater ◽  
Quang M Bui ◽  
Elsdon Storey ◽  
Michele Y Ono ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cognitive Impairment ◽  
Fragile X ◽  
Cognitive Status ◽  
Verbal Iq ◽  
Fragile X Mental Retardation ◽  
Cpg Sites ◽  
Cgg Repeats ◽  
Intron 1 ◽  
Study Participants

Abstract BACKGROUND Cognitive status in females with mutations in the FMR1 (fragile X mental retardation 1) gene is highly variable. A biomarker would be of value for predicting which individuals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X–related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals. METHODS Study participants included 74 control females (&lt;40 CGG repeats), 62 premutation (PM) females (55–200 CGG repeats), and 18 full-mutation (FM) females assessed with Wechsler intelligence quotient (IQ) tests. We used MALDI-TOF mass spectrometry to determine the methylation status of FREE2 CpG sites that best identified low-functioning (IQ &lt;70) FM females (&gt;200 CGG repeats), compared the results with those for Southern blot FMR1 activation ratios, and related these assessments to the level of production of the FMR1 protein product in blood. RESULTS A methylation analysis of intron 1 CpG sites 10–12 showed the highest diagnostic sensitivity (100%) and specificity (98%) of all the molecular measures tested for detecting females with a standardized verbal IQ of &lt;70 among the study participants. In the group consisting of only FM females, methylation of these sites was significantly correlated with full-scale IQ, verbal IQ, and performance IQ. Several verbal subtest scores showed strong correlation with the methylation of these sites (P = 1.2 × 10−5) after adjustment for multiple measures. CONCLUSIONS The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.

scholarly journals Failure to Recognize Status Epilepticus in a Paralysed Patient

1993 ◽  
Vol 20 (3) ◽  
pp. 234-236 ◽  
Author(s):  
R.I. Munn ◽  
K. Farrell
Keyword(s):  
Cognitive Impairment ◽  
Status Epilepticus ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Potential Danger ◽  
Severe Cognitive Impairment ◽  
Blocking Agents ◽  
Cerebral Dysfunction ◽  
Seriously Ill Patients ◽  
Seriously Ill

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.

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