Huntington disease: DNA analysis in Brazilian population

Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.     

The prevalence of neuropsychiatric disorders in a nursing home population

The prevalence of neuropsychiatric disorders and other medical illnesses was investigated in 65 nursing home residents. The authors found neuropsychiatric disorders to be present in 94% of the sample. The neuropathologic causes of these syndromes were found to be more diverse than in previous studies. The most frequent causes were degenerative, vascular, and toxic. The most common psychiatric syndromes that resulted from these neuropathologic disorders were dementia syndrome (72%), organic personality syndrome (14%), and organic psychotic disorders (12%). The most common behavioral problems, agitation and aggression, most likely reflected the high prevalence of frontal lobe damage and affected 48% of the sample. Other non-neuropsychiatric medical problems were significantly less common. While only 4% of the sample had no neuropsychiatric diagnosis, 39% had no other non-neuropsychiatric diagnosis. These results suggest that the nursing home is not used as a referral source for chronic medical conditions in general but almost exclusively for the care of chronic neuropsychiatric disorders.     

Lithium treatment in a very elderly nursing home population

We studied the result of long-term lithium therapy in 12 very elderly nursing home residents. Good treatment results occurred most often when the diagnosis was bipolar disorder-manic or manic episode. Many of the side effects encountered were well known (tremor, ataxia, lethargy, disorientation, and hypothyroidism) and were easily reversible. The development of significant sinus bradycardia in 25% of the group raised a question concerning lithium-induced cardiotoxicity. Nephrotoxicity was not apparent in spite of very advanced age and long duration of therapy. We conclude that the question of cardiotoxicity is important and requires further study. Other side effects were not sufficiently serious to contraindicate the use of lithium therapy in appropriately selected and well-monitored elderly patients.     

The German version of the Anorectic Behavior Observation Scale (ABOS)

Objective  To assess the performance of the German version of the Anorectic Behavior Observation Scale (ABOS) as a parent-report screening instrument for eating disorders (ED) in their children. Methods  Parents of 101 ED female patients (80 with Anorexia Nervosa; 21 with Bulimia Nervosa) and of 121 age- and socioeconomic status (SES)-matched female controls completed the ABOS. Results  Confirmatory factor analysis supported the original three-factor structure model of the ABOS. Cronbach’s alpha coefficients indicated good internal consistency for the three factors and the total score in the total sample. The best cut-off point (100% sensitivity and specificity) in the German version was ≥23. Conclusion  The ABOS may be a useful additional instrument for assessing ED.     

A psychometric evaluation of the Cornell Scale for Depression in Dementia in a frail, nursing home population.

OBJECTIVE: The authors conducted a psychometric evaluation of the Cornell Scale for Depression in Dementia (CSDD) through factor analysis and assessment of criterion validity in an older, frail nursing home population, with a secondary analysis of pre-intervention data from a longitudinal clinical trial aimed at reducing restraints in nursing homes. METHODS: The sample for the present study was 642 nursing home residents (mean [SD] age 84.3 [7.6] years; range: 61-105; 82% women) with completed CSDD scores, who were interviewed immediately before the intervention. Nursing home residents' scores from the 19-item CSDD were subjected to exploratory factor analysis and criterion-validity analysis. RESULTS: The factor analysis resulted in four distinct clinically interpretable domains: Depression, Somatic/Vegetative, Disturbed Sleep, and Anxiety. Sixteen items were retained in these domains, and summated score indices and a global score were constructed. The global score and the four indices demonstrated adequate internal consistency and reliability. The indices generated by the factor analysis correlated as expected with criterion variables. CONCLUSION: Results suggest that in frail, institutionalized older adults with high rates of dementia, medical illness, and functional disability, depression measurement methods that are less dependent on items highly sensitive to comorbid conditions and not necessarily associated with depression may be more appropriate. Authors recommend further validity testing of the CSDD with similar populations of frail, institutionalized older adults.     

The Forensic Inpatient Observation Scale (FIOS): development,reliability and validity

INTRODUCTION: Re-offending, as a measure of success in forensic psychiatry, gives no information about other behaviours that may have changed. The development of the Forensic Inpatient Observation Scale (FIOS), an observation instrument to assess the non-offending functioning of forensic patients, is described. STUDY 1: In the first study the development of the initial item pool of the FIOS is described. This resulted in an instrument consisting of 78 items and seven scales. The internal reliability of the scales ranged from 0.78 to 0.91. The inter-rater reliability of the scales varied from 0.50 to 0.85 and the test retest reliability over a period of three weeks was high for most scales, ranging from 0.74 to 0.89. STUDY 2: In the second study the FIOS was developed further in another sample of forensic patients. This time exploratory factor analysis with Varimax rotation and post hoc reliability analysis were applied to determine the factor structure among the items. This resulted in an item pool of 35 items, among which six factors could be distinguished that closely resemble the factor structure of the FIOS in study one: (1) self-care, (2) social behaviour, (3) oppositional behaviour, (4) insight offence/problems, (5) verbal skills and (6) distress. Most items have high loadings on the factor they are assigned; 29 items have a loading of 0.60 or higher. The internal consistency of the scales ranges from 0.73 to 0.91 and the scales appear to be measuring independent constructs. Twenty-five out of the 35 items have an inter-rater correspondence of 90% or higher and 30 out of 35 items have an inter-rater correspondence of 87.5% or higher. The inter-rater reliability on the scale level, however, was somewhat less satisfying with correlations ranging from 0.50 to 0.69. DISCUSSION: It is argued that training the observers on a more regular basis will improve the inter-rater reliability. There is some evidence for the convergent validity of the FIOS. The FIOS has some advantages over existing inpatient scales in that it is developed specifically for forensic patients, it does not particularly focus on axis 1 symptoms but includes oppositional behaviour and attitudes to offending.     

Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk

There is uncertainty surrounding the accuracy of prevalence estimates for Huntington's disease (HD). The aims of this study were to provide a best estimate of the prevalence and population at risk for HD in the province of British Columbia (BC), Canada, in 2012. HD patients with a clinical and/or genetic diagnosis of HD and individuals at risk for HD were ascertained from multiple sources. Clinical and genetic data were obtained from all available medical, social service, and genetic testing records. Six hundred and thirty‐one HD patients and 3,763 individuals at 25% or 50% risk for HD were identified. Prevalence of HD was estimated at 13.7 per 100,000 (95% confidence interval [CI]: 12.6–14.8 per 100,000) in the general population, and 17.2 per 100,000 (95% CI: 15.8–18.6 per 100,000) in the Caucasian population. The population at 25% to 50% risk was estimated at 81.6 per 100,000 (95% CI: 79.0–84.2 per 100,000) individuals. These figures suggest there may be up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada as well as up to 43,000 individuals affected with HD and 123,000 at 50% risk for HD in the United States. This is the first direct assessment of HD epidemiology in Canada in over three decades. These findings suggest that underascertainment may have led to previous underestimates of prevalence, namely, in Caucasian populations, and will aid in the planning of appropriate resource allocation and service delivery for the HD community. © 2013 International Parkinson and Movement Disorder Society.     

The Calgary Depression Rating Scale for Schizophrenia: development and interrater reliability of a German version (CDSS-G).

A German version of the Calgary Depression Rating Scale for Schizophrenia (CDSS-G) approved by the author of the original scale is presented comprising a semi-structured interview for 9 items to sensitively and specifically assess depression in schizophrenia and related disorders. The process of translation is outlined and the finally derived CDSS-G was investigated with respect to interrater reliability in three studies. To keep comparability with the CDSS source version a standard procedure was used. Two trained raters jointly assessed ten schizophrenic patients (study I). In a second study, videotapes with the CDSS-G were presented to clinically inexperienced raters (study II, N = 14/15) to test the agreement on the CDSS-G in this sample. Finally, in a third study clinically experienced researchers participated in a rater training (study III, N = 34). They carried out CDSS ratings on three patients with mild depressive symptoms. The dependence of interrater reliability on depression severity was investigated for all studied patients. Both intraclass correlation coefficients (ICC) and weighted kappa coefficients (kappa(w)) were calculated. The results revealed a high ICC = 0.97 in study I for the total CDSS-G score. Single item ICC values were all above 0.70. The results of study II revealed somewhat lower agreement on CDSS-G items and total scores in psychiatric novices with however acceptable values of kappa(w)>0.50 for the total scores. Study III yielded satisfactory results (0.66相似文献   

The Extended Staff Observation Aggression Scale (SOAS-E): development,presentation and evaluation

The Staff Observation Aggression Scale (SOAS) was developed as a scale for reporting aggressive incidents involving psychiatric in-patients. The SOAS — Extended Version (SOAS-E) has the same aim, but has additional categories and subcategories. The SOAS-E clearly distinguishes between violent and non-violent aggressive behaviour and characterizes in more detail the associated situation. However, the main contribution of the SOAS-E is the introduction of a category of‘warning signals’ that precede the releasing‘provocation factor’ as a separate and primary aspect of the cyclus of aggressive incidents. The development of the SOAS-E is described, and the testing and inter-rater reliability of the warning signals category are examined. Compared to the SOAS, the additional categories of the SOAS-E are found to increase the scope for a detailed characterization of aggressive behaviour in psychiatric wards.     

Psychiatric assessment of a nursing home population using audiovisual telecommunication.

The purpose of this study was to demonstrate that psychiatric assessment of nursing home residents could be reliably carried out remotely via telecommunications. Twenty-seven nursing home residents each had two interviews consisting of the following three rating scales: the Mini-Mental State Examination (MMSE), the Geriatric Depression Scale (GDS), and the Brief Psychiatric Rating Scale (BPRS). The interviews were conducted by three trained psychiatrists, each of whom interviewed two-thirds of the subjects. Subjects were sequentially assigned to have either two in-person interviews (in-person group) or one in-person and one remote interview via telecommunication (remote group). Inter-rater reliability was calculated separately for each condition (in-person vs remote group) for each of the three rating scales. Intraclass correlations on the MMSE were .95 for the remote group and .83 for the in-person group. On the GDS, they were .82 for the remote group and .86 for the in-person group. Finally, on the BPRS, they were .81 for the remote group and .49 for the in-person group. There were no statistically significant differences in intraclass correlation on any of the three scales for the remote group compared with the in-person group, indicating that nursing home residents can be reliably assessed remotely via telecommunication.     

Parkinsonism in a nursing home: underrecognition

Parkinsonism is a very common condition in the elderly, particularly the elderly demented. The authors' experience in both the in-and outpatient settings suggested that parkinsonism was generally underdiagnosed in the elderly. They evaluated the residents at a local nursing home to assess for parkinsonian signs. They then compared the findings to those noted in the charts. Blinded assessment of all nursing home residents for signs of parkinsonism was performed. A standardized evaluation instrument was used, followed by a chart review to determine if patients were taking medications that might induce the parkinsonism and whether the parkinsonism had been recognized. The authors looked separately at those patients receiving antipsychotics because of their increased risk. Twenty-seven out of 100 residents had "probable" parkinsonism, 12 of whom were severe, and 33 had "possible" parkinsonism. Of 27 residents on antipsychotics, 23 showed parkinsonian features versus 43 of 73 not on such drugs (P<.02). Only 1 patient with drug-induced parkinsonism and 3 residents with previously diagnosed Parkinson's disease had chart notes indicating that parkinsonism had been recognized.     

Construction and validation of a patient- and user-friendly nursing home version of the Geriatric Depression Scale

OBJECTIVE: To construct a patient- and user-friendly shortened version of the Geriatric Depression Scale (GDS) that is especially suitable for nursing home patients. METHODS: The study was carried out on two different data bases including 23 Dutch nursing homes. Data on the GDS (n = 410), the Mini Mental State Examination (n = 410) and a diagnostic interview (SCAN; n = 333), were collected by trained clinicians. Firstly, the items of the GDS-15 were judged on their clinical applicability by three clinical experts. Subsequently, items that were identified as unsuitable were removed using the data of the Assess project (n = 77), and internal consistency was calculated. Secondly, with respect to criterion validity (sensitivity, specitivity, area under ROC and positive and negative predictive values), the newly constructed shortened GDS was validated in the AGED data set (n = 333), using DSM-IV diagnosis for depression as measured by the SCAN as 'gold standard'. RESULTS: The eight-item GDS that resulted from stage 1 showed good internal consistency in both the Assess data set (alpha = 0.86) and the AGED dataset (alpha = 0.80). In the AGED dataset, high sensitivity rates of 96.3% for major depression and 83.0% for minor depression were found, with a specificity rate of 71.7% at a cut-off point of 2/3. CONCLUSION: The GDS-8 has good psychometric properties. Given that the GDS-8 is less burdening for the patient, more comfortable to use and less time consuming, it may be a more feasible screening test for the frail nursing home population.     

The clinical and genetic features of Huntington disease

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.     

Adaptive Behavior Scale: development as a diagnostic tool via discriminant analysis.

The multidimensional nature of behavior often causes a dilemma for the diagnostician who must interpret inconsistent behavior. Three classifications of 6- through 12-year-old children were evaluated on the public school version of the Adaptive Behavior Scale by their teachers. Of the 388 nonretarded, 115 EMR, and 85 TMR children, 86 percent were correctly identified via 12-variable classification functions. The results indicate that further development of an adaptive behavior instrument would be desirable as a cost-efficient and powerful diagnostic tool.     

Concurrent validity of the GMS­AGECAT (A3) package in a Danish nursing home population

Aim. To validate the Danish version of the GMS–AGECAT (A3), the Standardized Mini Mental State Examination (SMMSE) and the Geriatric Depression Scale-15 (GDS-15) by comparing them to clinical ICD-10 criteria in a Danish nursing home population. Methods. With a participation of 91%, the study included 100 residents. All residents were interviewed with the GMS–AGECAT (A3), SMMSE and GDS-15 by an MD and then blindly diagnosed by a consultant geriatric psychiatrist. All residents approached for an interview were included, also those who were not able to communicate (the non-accessibles). Results. The prevalence of clinical psychiatric ICD-10 main diagnoses was 56%. The non-accessibles had significantly higher psychiatric morbidity and lower ADL scores (modified Barthel ADL index) compared to those who were able to communicate. With the non-accessibles (N=100) included, the optimal screening and diagnostic cutpoint for the GMS–AGECAT organic diagnoses was 2/3, with 96% sensitivity, 73% specificity, 77% predictive value of a positive test and 95% predictive value of a negative test. The SMMSE and GDS-15 had better screening properties compared to the GMS–AGECAT but only 60% of the residents were able to complete the SMMSE and 78% were able to complete the GDS-15. Conclusion. The Danish version of the GMS–AGECAT has relevant diagnostic and screening properties for organic disorders in Danish nursing home populations. © 1998 John Wiley & Sons, Ltd.     

Embryonic development of a population of spiking local interneurones in the locust (Schistocerca gregaria).

We examined the embryonic development of an identified group of thoracic spiking local interneurones in the locust. These interneurones are primary integrators of mechanosensory information from the legs and make inhibitory output connections with motor neurones, nonspiking local interneurones, and intersegmental interneurones. Using intracellular dye injection, we traced the origins of these interneurones and described their morphological development. All of the interneurones in this population are produced by neuroblast NB4-1. The interneurones are produced during the latter stages of the neuroblast lineage and could not be identified before 55% development. Their growth could be divided into three distinct phases: first, a period of initial outgrowth (55-70%) during which the basic skeleton of major neurites is formed; second, a shorter period of rapid growth (70-80%) during which the basic skeleton is elaborated by the addition of many side branches; and third, a period of maturation (80-95%) during which the branches formed during earlier growth appear to be pruned. The possible implications of these results for neural development and synaptogenesis are discussed.     

Emotion recognition and experience in Huntington disease: a voxel-based morphometry study

Background

The neuroanatomic basis of affective processing deficits in Huntington disease is insufficiently understood. We investigated whether Huntington disease–related deficits in emotion recognition and experience are associated with specific changes in grey matter volume.

Method

We assessed grey matter volume in symptomatic patients with Huntington disease and healthy controls using voxel-based morphometry, and we correlated regional grey matter volume with participants’ affective ratings.

Results

We enrolled 18 patients with Huntington disease and 18 healthy controls in our study. Patients with Huntington disease showed normal affective experience but impaired recognition of negative emotions (disgust, anger, sadness). The patients perceived the emotions as less intense and made more classification errors than controls. These deficits were correlated with regional atrophy in emotion-relevant areas (insula, orbitofrontal cortex) and in memory-relevant areas (dorsolateral prefrontal cortex, hippocampus).

Limitations

Our study was limited by the small sample size and the resulting modest statistical power relative to the number of tests.

Conclusion

Our study sheds new light on the importance of a cognitive–affective brain circuit involved in the affect recognition impairment in patients with Huntington disease.