E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.

OBJECTIVE: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle. Two calves with clinical signs of generalised glycogenosis were submitted for necropsy. RESULTS: One loss-of-function GAA mutation (1057ΔTA or E7 allele) was identified using SNP chip technology and confirmed using conventional diagnostic DNA tests. Further testing demonstrated that the mutation was common within this herd and that two ill-thrift calves were homozygous for the E7 allele. Parentage analysis confirmed both sire and dam as heterozygous carriers. Pathology consistent with generalised glycogenosis was found in the skeletal and cardiac muscle and spinal cord of both of the affected calves. The 1783C>T (E13) or 2454ΔCA (E18) mutations associated with generalised glycogenosis in the Brahman and Shorthorn breeds, respectively, were not detected. CONCLUSION: The lethal mutation 1057ΔTA of GAA is present in the Droughtmaster breed, with pathology identical to that reported in pure Brahman animals. Droughtmaster breeders should take action to prevent any increase in the prevalence of this lethal allele in the breed as it could cause both welfare issues and production losses if ignored.

The use of clozapine among individuals with intellectual disability: a review.

Clozapine has been approved in the United States since 1990 for refractory or treatment resistant schizophrenia in the general population. However, as with many other antipsychotic medications, it is being prescribed for reasons other than those indicated. Among individuals with intellectual disabilities, clozapine is increasingly being prescribed to treat behavioral problems, although the empirical evidence for such a practice is lacking. This review was undertaken as an attempt to summarize the available studies regarding the use of clozapine for behavioral purposes among individuals with intellectual disabilities. Findings of our review suggest that the effectiveness of clozapine in targeting challenging behaviors among individuals with intellectual disabilities is relatively inconclusive at present. We discuss reasons why these limitations exist and offer some solutions to help alleviate these limitations.

Validation of the coin rotation test: a simple, inexpensive, and convenient screening tool for impaired psychomotor processing speed.

OBJECTIVES: The Coin Rotation Test is a simple, convenient, and cost-effective measure of psychomotor processing speed that has been used in neurologic examinations at the Louisiana State University Health Sciences system for almost 20 years. On the Coin Rotation Test, participants rotate a coin through serial 180 degree turns using the thumb, index, and middle fingers for 10 seconds. In the current study, we sought to validate the Coin Rotation Test on a hospital-based sample by determining the task's sensitivity and specificity in detecting psychomotor processing speed impairment on a well-established criterion measure, the Grooved Pegboard Test. METHODS: Participants included a sample of 161 participants obtained in a hospital setting (86 neurology clinic, 79 waiting area family practice clinic) who volunteered to complete several tasks of motor functioning and the Coin Rotation Test. RESULTS: The Coin Rotation Test was found to be significantly correlated with a number of measures of motor functioning, suggesting a high level of convergent validity. Using a binary receiver operator characteristic curve analysis, the Coin Rotation Test predicted fine motor and psychomotor processing speed impairment with 0.80 sensitivity and 0.62 specificity for dominant hand performance and 0.83 sensitivity and 0.43 specificity for nondominant hand performance when a cut-score of 13 or fewer coin rotations was used. CONCLUSIONS: These results support the utility of the Coin Rotation Test as a convenient and inexpensive psychomotor processing speed screening tool in clinical settings.

The relationships of working memory, secondary memory, and general fluid intelligence: working memory is special.

Recent efforts have been made to elucidate the commonly observed link between working memory and reasoning ability. The results have been inconsistent, with some work suggesting that the emphasis placed on retrieval from secondary memory by working memory tests is the driving force behind this association (Mogle, Lovett, Stawski, & Sliwinski, 2008), whereas other research suggests retrieval from secondary memory is only partly responsible for the observed link between working memory and reasoning (Unsworth & Engle, 2006, 2007). In the present study, we investigated the relationship between processing speed, working memory, secondary memory, primary memory, and fluid intelligence. Although our findings show that all constructs are significantly correlated with fluid intelligence, working memory-but not secondary memory-accounts for significant unique variance in fluid intelligence. Our data support predictions made by Unsworth and Engle (2006, 2007) and suggest that the combined need for maintenance and retrieval processes present in working memory tests makes them special in their prediction of higher order cognition.

Myelodysplasia as a cause of hindlimb ataxia in two beef calves.

Myelodysplasia is a general term referring to abnormal development of the spinal cord. Unless associated with vertebral malformations, it can be difficult to distinguish clinically from other causes of spinal cord disease. These case reports describe the clinical and pathological findings in two calves with a distinctive non-progressive pelvic limb ataxia. The syndrome was observed in two calves on a large, extensively managed beef cattle property near Richmond, north Queensland. Both calves had similar clinical signs, including hindlimb ataxia with swaying of the pelvis and a well-coordinated bilateral hopping-like action. The differential diagnoses are discussed. A focal or diffuse myelodysplasia should be suspected in calves that have exhibited a non-progressive hindlimb ataxia from birth.

Can we improve the clinical assessment of working memory? An evaluation of the Wechsler Adult Intelligence Scale-Third Edition using a working memory criterion construct.

Working memory is the cognitive ability to hold a discrete amount of information in mind in an accessible state for utilization in mental tasks. This cognitive ability is impaired in many clinical populations typically assessed by clinical neuropsychologists. Recently, there have been a number of theoretical shifts in the way that working memory is conceptualized and assessed in the experimental literature. This study sought to determine to what extent the Wechsler Adult Intelligence Scale-Third Edition (WAIS-III) Working Memory Index (WMI) measures the construct studied in the cognitive working memory literature, whether an improved WMI could be derived from the subtests that comprise the WAIS-III, and what percentage of variance in individual WAIS-III subtests is explained by working memory. It was hypothesized that subtests beyond those currently used to form the WAIS-III WMI would be able to account for a greater percentage of variance in a working memory criterion construct than the current WMI. Multiple regression analyses (n = 180) revealed that the best predictor model of subtests for assessing working memory was composed of the Digit Span, Letter-Number Sequencing, Matrix Reasoning, and Vocabulary. The Arithmetic subtest was not a significant contributor to the model. These results are discussed in the context of how they relate to Unsworth and Engle's (2006, 2007) new conceptualization of working memory mechanisms.

Assessment and rehabilitation of acquired visuospatial and proprioceptive deficits associated with visuospatial neglect.

Visuoperceptual disruptions are among the most common, and most debilitating, of the aftereffects following stroke or head injury. Visuospatial neglect in particular, which frequently occurs as a result of insult to the right cerebral hemisphere, has a variety of implications for patient welfare and outcome. And while there exists a great deal of useful information in the area of visual neglect, it is spread out amongst near-countless journal articles, book chapters, and workshop summaries. Thus, it is the purpose of this paper to provide an overview of various topics relating to visuospatial disturbances. Areas covered include theories on sequelae and neuropathology, common direct and indirect complications, rates and types of recovery, past and current trends in assessment and rehabilitation techniques, and thoughts on directions for future research.

A critical item analysis of the QABF: development of a short form assessment instrument.

Due to the relative inability of individuals with intellectual disabilities (ID) to provide an accurate and reliable self-report, assessment in this population is more difficult than with individuals in the general population. As a result, assessment procedures must be adjusted to compensate for the relative lack of information that the individual may be able to provide and rely more on the behavioral expression of communication. One method commonly used is the indirect functional assessment that utilizes behavior rating scales developed to gather behavioral data in a short time. One of the few empirically derived and psychometrically sound scales is the Questions About Behavioral Function (QABF), a 25-item questionnaire designed to rate specific behavioral functions and maintaining variables. The purpose of this study was to use both exploratory and confirmatory factor analytic procedures to examine the psychometric properties of the QABF, conduct an item analysis, and determine if a short form version could be developed that is both psychometrically valid and reliable, and clinically useful. Results of the item selection procedure indicated that the original 25 items could be reduced to 15. Evaluation of the 15-item short form showed that the QABF-SF maintained the original five-factor structure of the original form, while maintaining an equivalent degree of reliability and validity. The QABF-SF appears to be a useful tool to aid clinicians in the brief functional assessment of behavior in individuals with ID.

A Comparison of Laboratory and Clinical Working Memory Tests and Their Prediction of Fluid Intelligence.

The working memory (WM) construct is conceptualized similarly across domains of psychology, yet the methods used to measure WM function vary widely. The present study examined the relationship between WM measures used in the laboratory and those used in applied settings. A large sample of undergraduates completed three laboratory-based WM measures (operation span, listening span, and n-back), as well as the WM subtests from the Wechsler Adult Intelligence Scale-III and the Wechsler Memory Scale-III. Performance on all of the WM subtests of the clinical batteries shared positive correlations with the lab measures; however, the Arithmetic and Spatial Span subtests shared lower correlations than the other WM tests. Factor analyses revealed that a factor comprising scores from the three lab WM measures and the clinical subtest, Letter-Number Sequencing (LNS), provided the best measurement of WM. Additionally, a latent variable approach was taken using fluid intelligence as a criterion construct to further discriminate between the WM tests. The results revealed that the lab measures, along with the LNS task, were the best predictors of fluid abilities.

The relation of depression and anxiety to measures of attention in young adults seeking psychoeducational evaluation.

The relation between mood and attentional functioning in young adults seeking psychoeducational evaluation has not been previously reported. This study examined the relation of self-reported depression and anxiety on attentional abilities among 161 young adults referred for psychoeducational evaluation. Depression and anxiety were measured with the Beck Depression Inventory-II and the State-Trait Anxiety Inventory, respectively. Attentional functioning was assessed using the Trail Making Test, the d2 Test of Attention, the Conners' Continuous Performance Test, and the WAIS-III Working Memory and Processing Speed Indices. The unique variance accounted for by depression or anxiety was minimal (typically <1.5%); these null results were confirmed by diagnostic subgroup analyses and also after examining the interaction between depression and anxiety. These results suggest that performance on measures of attention within samples of young adults seeking psychoeducational evaluation is minimally related to self-reported depression and anxiety.

Continuous Performance Test (CPT) of college students with ADHD, psychiatric disorders, cognitive deficits, or no diagnosis.

OBJECTIVE/METHOD: The Conner's Continuous Performance Test (CPT) was administered to four groups of adult college students who self-referred for comprehensive psychoeducational evaluation and received either no diagnosis (n = 30) or a diagnosis of ADHD (n = 26), a psychiatric disorder (n = 17), or various cognitive deficits (n = 22). RESULTS: The groups did not differ with respect to age, sex, race, or IQ. Although the ADHD group made more CPT errors of omission, had longer response times, and showed greater variability in responding than the other three groups, these differences did not reach statistical significance when analyzed parametrically using standard scores. But when the pattern of scores across the groups was analyzed nonparametrically, significant and interpretable results emerged. CONCLUSION: The CPT reliably differentiated between individuals with ADHD and both normal college students and individuals with psychiatric diagnoses but not persons with learning/cognitive disorders.

Inhibition of acoustic startle using different mechanoreceptive channels.

In this experiment, we investigated the impact of vibrotactile prepulse frequency and intensity on the acoustically elicited startle response in humans. Mechanoreceptive channels differing in their sensitivity to transient stimulation have been identified in the skin. The Pacinian channel is optimally sensitive to vibrations at approximately 300 Hz and is specialized for the detection of stimulus transients, whereas the non-Pacinian I and III channels are optimally sensitive to vibrations at approximately 30 Hz. Vibrotactile prepulses with frequencies of 30 and 300 Hz and intensities of 95 and 130 mV were presented for 50 msec to the dominant hand of college students (N = 31), followed on some trials by a 95-dB broadband acoustic startle stimulus. The 300-Hz prepulses resulted in significantly more pronounced inhibition of startle magnitude, amplitude, and probability, whereas only the 30-Hz prepulses significantly facilitated blink latency. These results support the idea that the inhibition of acoustic startle is determined more by transient than by sustained aspects of vibrotactile prepulse stimuli. This study also demonstrates that different aspects of the startle response differentially reflect stimulus characteristics of the prepulse.

The fundamental psychometric status of neuropsychological batteries.

A fundamental requirement for neuropsychological assessment is dependability. Neuropsychological knowledge is dependable only if it has been validated using psychometric methods. Since batteries are used for interpretations, the psychometric validation methods that are acceptable for individual tests must be applied to batteries to produce dependable information. While the standardized battery has been validated, the flexible battery has not. Due to the probability that some tests will be impaired by chance, a flexible battery cannot produce dependable interpretations by selecting or combining test results. Localization and diagnostic assessments are obtained by comparisons. Comparisons require that the tests in a battery are invariant or have equivalent norms along with a common metric. While standardized batteries do meet these criteria, flexible batteries do not. Consequently, clinical judgment applied to a flexible battery cannot provide dependable knowledge beyond that which could be provided by a single validated individual test.

A bovine stress syndrome associated with exercise-induced hyperthermia.

OBJECTIVE: To investigate an exercise-induced bovine stress syndrome under field and controlled experimental conditions. DESIGN AND PROCEDURE: In the field study, cattle affected with the stress syndrome were observed while they were grazing and during normal mustering using horses. This study served to define the clinical nature of the syndrome. The experimental study utilised three affected and five normal unaffected cattle. These animals were compared on the basis of their response to a defined exercise program, which consisted of walking 3.6 km in 2 h. Blood samples and measurements of respiratory rate, ambient temperature and rectal temperature were taken immediately before exercise, and at 0.5, 1.0, 1.5 and 2.0 h during the exercise and 24 h later. Clinical and blood constituent data were subjected to standard analysis of variance and repeated measures analysis. RESULTS: In the field study, affected cattle were observed to show abnormally anxious and hyperactive behaviour. This behaviour was exhibited by affected cattle during the experimental exercise program where it was shown to be accompanied by hyperthermia and hyperventilation. The experimental study showed that affected cattle developed metabolic acidosis and became hyperglycaemic. Their plasma creatine kinase activity remained markedly increased at 24 h after exercise but other clinical and blood constituent variables had returned to normal values. CONCLUSION: The clinical and biochemical changes detected in affected cattle were consistent with exercise-induced malignant hyperthermia.

Detection of the Cryptosporidium parvum "human" genotype in a dugong (Dugong dugon).

The Cryptosporidium "human" genotype was identified in a paraffin-embedded tissue section from a dugong (Dugong dugon) by 2 independent laboratories. DNA sequencing and polymerase chain reaction/restriction fragment length polymorphism analysis of the 18S ribosomal RNA gene and the acetyl CoA synthethase gene clearly identified the genotype as that of the Cryptosporidium variant that infects humans. This is the first report of the human Cryptosporidium genotype in a nonprimate host.

Investigation of osteochondrosis in grazing beef cattle.

Severe lameness attributed to osteochondrosis is described in an extensively managed Brahman herd grazing on improved native pasture. Clinical signs were observed in five animals, three of which were necropsied. The most prominent lesions were in the elbow and stifle joints. There were multiple fissuring and ulceration of thickened articular cartilage with numerous osteochondral bodies present in the joint spaces. All affected animals were entire males sharing a common ancestral sire. Inheritance and gender were suspected to be contributing factors in the development of the disease.

Importance of Staphylococcus hyicus ssp hyicus as a cause of arthritis in pigs up to 12 weeks of age.

Lame pigs, up to 12 weeks of age, were necropsied to establish a diagnosis. Of 175 pigs examined, 165 were confirmed to have arthritis by histopathological examination of joint tissues. Lesions were most common in the elbow and tarsal joints and least common in the joints of the feet. Typically, there was severe fibrinopurulent inflammation of synovial membranes regardless of the bacteria isolated. A bacterial aetiology was found in 114 (69%) of the 165 pigs. In arthritic pigs in which an aetiology was established the causative agents were Staphylococcus hyicus ssp hyicus (24.6%), Streptococcus equisimilis (26.3%), Actinomyces pyogenes (13.2%), Staphylococcus aureus (7.9%) and Haemophilus parasuis (7.9%). While gender did not affect the prevalence of arthritis, there was an age influence, most of the pigs culled for arthritis being under 6 weeks of age.