Description and predictors of self-determination in males and females with fragile X syndrome on the verge of adulthood.

BACKGROUND: Self-determination refers to setting goals and making decisions regarding one's own life with support from others as needed. Research on people with intellectual and developmental disabilities has established the importance of self-determination for quality of life outcomes, such as increased independence and life satisfaction. However, self-determination has not been characterised specifically in fragile X syndrome (FXS), the leading inherited cause of intellectual disability. Relative to youth with other forms of intellectual and developmental disabilities, youth with FXS may face exceptional barriers to the development of self-determined behaviour. In addition to intellectual disability, the FXS behavioural profile is characterised by high rates of autism and anxiety that may further limit opportunities for youth with FXS. The heritable nature of the condition can also yield a distinctive family environment, with siblings and parents also living with fragile X or its associated conditions. Considering these unique challenges, the present study examined self-determination in young adult males and females with FXS and explored whether factors such as language skills, adaptive behaviour and autism traits were associated with self-determination capacity and opportunities. METHODS: The present study included 9 females and 36 males with FXS between the ages of 17 and 25 years. Caregivers (mothers or fathers) completed the American Institute for Research Self-Determination Assessment, which is a questionnaire that yields three scores: self-determination capacity, opportunities for self-determination at home and opportunities for self-determination at school. RESULTS: Caregivers endorsed a wide range of self-determination capacity and opportunities, with ratings for opportunities at home and school exceeding ratings of capacity. Better adaptive behaviour skills were associated with more self-determination capacity, and the presence of more autism traits was associated with fewer opportunities at school. CONCLUSIONS: Results from this study contribute to our understanding of avenues to best support young adults with FXS as they transition to adulthood. Our findings also have implications for practice, such that interventions targeting adaptive behaviours and self-determination may be an effective approach for promoting autonomy and independence for young adults with FXS. Additionally, caregivers and educators should continue to provide opportunities to practise self-determination, regardless of their perception of capacity.

Prevalence of motor impairment in residents of New South Wales, Australia aged 55 years and over: cross-sectional survey of the 45 and Up cohort.

BACKGROUND: The population prevalence of many diseases is known. However, little is known of the population prevalence of motor impairments. METHODS: The aim of this study was to determine the point prevalence of specific motor impairments (weakness, fatigue, contracture, impaired balance and impaired coordination) in the population aged 55 years and older resident in New South Wales, Australia in 2018. 55,210 members of the 45 and Up cohort were invited to participate in a follow-up survey that included questions on motor impairment. Responses were received from 20,141 people (36%). Calibrated estimates of prevalence of specific motor impairments, and of having at least one motor impairment, were obtained using survey weights based on the known multivariate distributions of age, gender and geographical location (28 regions) in the population. RESULTS: More than one-third of adults aged over 55 residing in New South Wales have difficulty using their hands, arms or legs. The prevalence of each motor impairment (muscle weakness, fatigue, contracture, impaired balance or impaired coordination) in this population is between 4 and 12%. The prevalence of at least one of these impairments is 21%. The prevalence of at least one impairment in people aged 85 and over is 42%. Women consistently had more difficulty using hands, arms and legs, and more motor impairment, than men. Difficulty using hands, arms and legs and the prevalence of all motor impairments, especially poor balance, greatly increased with age. CONCLUSION: The prevalence of specific motor impairments in older Australian adults is high - comparable to that of the most prevalent diseases. There may be merit in considering motor impairment as a significant public health problem in its own right.

Effects of acute isometric resistance exercise on cervicomedullary motor evoked potentials.

Cervicomedullary motor evoked potentials (CMEPs) in relaxed biceps brachii have been reported to facilitate after acute isometric exercise of the elbow flexors. This facilitation, which reflects either enhanced corticospinal transmission or increased motoneurone excitability, has only been documented in the limb posture used during exercise. In Experiment 1, we tested if these spinal changes "transfer" to a second posture. Fourteen individuals completed 12 sets of high-force isometric contractions of the elbow flexors with the forearm pronated. Before and after exercise, biceps CMEPs were acquired with the forearm either pronated or supinated. CMEPs in pronation and supination were facilitated after exercise, indicating transfer (57.5 ± 55.5% and 53.9 ± 54.9%, respectively; mean ± SD). In Experiment 2, we examined if exercise posture influences the effect that exercise has on CMEPs. A different sample of 14 individuals performed isometric exercise in 2 sessions. In one, exercise was performed in supination. In the other, exercise was performed in pronation. Exercise intensity and volume were the same as in Experiment 1, as were participant characteristics. CMEPs were unchanged after exercise in supination (13.6 ± 31.2%) and pronation (7.7 ± 41.5%). The absence of an effect differs from the finding of Experiment 1. Thus, effects of acute isometric resistance exercise on corticospinal transmission and/or motoneurone excitability are not as consistent as previously thought. When exercise induces this spinal change, the effect is not specific to the posture used for exercise. However, the change does not always occur, and the reasons for this remain unknown.

Reductions in aggression and violence following cognitive behavioural anger treatment for detained patients with intellectual disabilities.

BACKGROUND: Aggression is a significant problem amongst people with intellectual disabilities (ID), particularly those residing in hospital settings. Anger is related to aggression in secure services working people with ID, and the effectiveness of psychological interventions in reducing anger has been demonstrated in this population. However, no studies have systematically examined whether levels of aggression reduce following anger treatment with people with ID detained in secure settings. METHOD: This programme evaluation study concerns individually delivered cognitive anger treatment delivered to 50 patients (44 men and 6 women) with mild to borderline ID, delivered twice weekly for 18 sessions in a specialist forensic hospital service. Aggressive incidents and physical assault data were obtained from records 12 months pre-treatment and 12 months post-treatment. RESULTS: Following completion of treatment, the total number of aggressive incidents recorded in patients' files fell by 34.5%, and the post-treatment reduction in the number of physical assaults was 55.9%. Analysis of the data partitioned into 6-month blocks over the 24-month study period showed that significant reductions in aggressive and violent incidents occurred in the assessment intervals following anger treatment. CONCLUSIONS: These findings reinforce the efficacy of cognitive behavioural anger treatment for detained patients with ID and histories of aggression; and despite its methodical limitations the study indicates the ecological validity of this treatment approach.

[The application of yeast hybrid systems in protein interaction analysis].

Yeast hybrid systems have been widely used due to their convenience and low cost. Based on these systems, many methods have been developed to analyze protein-protein, protein-DNA and protein-RNA interactions. In this paper, we are reviewing these different yeast hybrid systems. According to the number of hybrid proteins, yeast hybrid systems can be divided into three categories, yeast one-hybrid, yeast two-hybrid and yeast three-hybrid systems. Alternatively, yeast hybrid systems can be categorized according to the subcellular localization of the protein interaction process in the cell into nuclear protein-protein interactions, cytosol protein-protein interactions and membrane protein-protein interactions. Throughout the review, we focus on the progress and limitations of each yeast hybrid system over the recent years.

A preliminary controlled trial of a trans-diagnostic programme for cognitive behaviour therapy with adults with intellectual disability.

BACKGROUND: Several studies have found a heightened prevalence of mental health disorders in people with intellectual disabilities (ID). There have been a number of successful case series and two promising controlled treatment trials of cognitive behaviour therapy (CBT) for emotional disorders (excluding anger) for people with ID. Several authors have promoted the development of trans-diagnostic approaches to cognitive treatment. The present study extends this work with the development and evaluation of a trans-diagnostic treatment manual for CBT in people with ID. METHOD: A controlled treatment trial was conducted with 12 participants in treatment and waiting list control data. Each treatment participant was matched to a control on age, IQ, presenting problem, and Brief Symptom Inventory (BSI) global severity index (GSI) score. The treatment group was also evaluated on the Glasgow anxiety and depression scales and was followed up for 3 to 6 months after treatment. RESULTS: There were no significant differences between groups at baseline. Following treatment, the CBT group was significantly improved when compared with the control group on the GSI scale of the BSI. The ancovas for all other measures were not significant but there were significant improvements for the treatment group on all scaled except BSI depression from pre to post-CBT. Gains were maintained to follow up, and changes were associated with large effect sizes. CONCLUSIONS: It was possible to treat a range of symptoms and psychiatric diagnoses with a general trans-diagnostic CBT manual. The effects of therapy were promising, suggesting that the participants could respond to treatment in a meaningful and helpful manner and supporting the case for further evaluation of the trans-diagnostic approach in ID.

A prospective study of the relationship between adverse life events and trauma in adults with mild to moderate intellectual disabilities.

BACKGROUND: Research has demonstrated a relationship between the experience of life events and psychopathology in people with intellectual disabilities (ID), however few studies have established causal links and to date no prospective studies have utilised a measure of trauma that has been developed specifically for this population group. METHOD: This 6-month prospective study examined longitudinal relationships between adverse life events and trauma in 99 adults with mild to moderate ID. RESULTS: Life events during the previous 6 months were significantly predictive of levels of trauma as measured by the self-report Lancaster and Northgate trauma scales (LANTS), and the informant LANTS behavioural changes, frequency and severity sub-scales. This prospective causal relationship was demonstrated while controlling for any prior life events or pre-existing trauma, though the relationship was not moderated by social support. CONCLUSIONS: Evidence of a causal relationship between adverse life events and trauma symptoms is important for treatment planning and funding allocation.

How do static and dynamic risk factors work together to predict violent behaviour among offenders with an intellectual disability?

BACKGROUND: Research on risk assessment with offenders with an intellectual disability (ID) has largely focused on estimating the predictive accuracy of static or dynamic risk assessments, or a comparison of the two approaches. The aim of this study was to explore how static and dynamic risk variables may 'work together' to predict violent behaviour. METHODS: Data from 212 offenders with an ID were analysed. Risk assessment tools included one static measure (Violence Risk Appraisal Guide), and two dynamic measures (Emotional Problems Scale and the Short Dynamic Risk Scale). Six-month concurrent prediction data on violent behaviour were collected. A structured methodology was employed to explore putative relationships between static and dynamic factors. RESULTS: Static risk factors temporally preceded dynamic ones, and were shown to dominate both dynamic measures, while there was a non-zero relationship between the static and the two dynamic measures. According to Kraemer et al., these findings suggest that dynamic risk factors function as proxy risk factors for static risk. CONCLUSIONS: Dynamic and static risk factors appear to capture elements of the same underlying risk associated with violent behaviour in individuals with an ID. This is the first study to empirically explore risk interrelationships in the forensic ID field. We discuss the importance of the contribution of dynamic variables in the prediction and management of risk.

Twitch interpolation: superimposed twitches decline progressively during a tetanic contraction of human adductor pollicis.

The assessment of voluntary activation of human muscles usually depends on measurement of the size of the twitch produced by an interpolated nerve or cortical stimulus. In many forms of fatiguing exercise the superimposed twitch increases and thus voluntary activation appears to decline. This is termed 'central' fatigue. Recent studies on isolated mouse muscle suggest that a peripheral mechanism related to intracellular calcium sensitivity increases interpolated twitches. To test whether this problem developed with human voluntary contractions we delivered maximal tetanic stimulation to the ulnar nerve (≥60 s at physiological motoneuronal frequencies, 30 and 15 Hz). During the tetani (at 30 Hz) in which the force declined by 42%, the absolute size of the twitches evoked by interpolated stimuli (delivered regularly or only in the last second of the tetanus) diminished progressively to less than 1%. With stimulation at 30 Hz, there was also a marked reduction in size and area of the interpolated compound muscle action potential (M wave). With a 15 Hz tetanus, a progressive decline in the interpolated twitch force also occurred (to ∼10%) but did so before the area of the interpolated M wave diminished. These results indicate that the increase in interpolated twitch size predicted from the mouse studies does not occur. Diminution in superimposed twitches occurred whether or not the M wave indicated marked impairment at sarcolemmal/t-tubular levels. Consequently, the increase in superimposed twitch, which is used to denote central fatigue in human fatiguing exercise, is likely to reflect low volitional drive to high-threshold motor units, which stop firing or are discharging at low frequencies.

Responsivity to criminogenic need in forensic intellectual disability services.

BACKGROUND: Research has shown for some time that addressing criminogenic need is one of the crucial aspects of reducing reoffending in all types of offenders. Criminogenic need such as anger or inappropriate sexual interest is considered to be crucial in the commission of the offence. The aim of the present study is to investigate the extent to which forensic services address the needs of those accepted into services. METHOD: This study reviews the treatment for 197 offenders with intellectual disability accepted into a range of services. Participants' case files were examined to ascertain the extent to which need was addressed through recognised therapies. A standard pro forma was used on which we had established good reliability across four research assistants. RESULTS: The most frequently referred problems were violence and sexual offending. Specialist forensic intellectual disability community services were significantly more likely to provide treatment specifically designed to address index behaviours when compared to generic community services and secure services. CONCLUSIONS: Various possible explanations of these findings are explored including staffing levels, diagnosed mental illness, expertise of staff and clarity of purpose in services.

Chronic Pseudoaneurysm and Anterior Dislocation After Total Hip Arthroplasty Complicated by Arterial Injury: A Case Report.

CASE: A 64-year-old man presented 18 months after total hip arthroplasty complicated by vascular injury with a history of leg pain, inability to mobilize, and progressive chronic leg edema. It is presumed that there was persistent subtle bleeding over time with pseudoaneurysm formation and prosthetic hip dislocation secondary to the mass effect. CONCLUSION: Physicians should consider pseudoaneurysm as a possible diagnosis when confronted with a large intra-articular mass in the hip after a relatively short follow-up period, particularly in the context of a prior vascular injury at the time of the index procedure.

Dynamic changes in the perceived posture of the hand during ischaemic anaesthesia of the arm.

Contorted 'phantom' limbs often form when sensory inputs are removed, but the neural mechanisms underlying their formation are poorly understood. We tracked the evolution of an experimental phantom hand during ischaemic anaesthesia of the arm. In the first study subjects showed the perceived posture of their hand and fingers using a model hand. Surprisingly, if the wrist and fingers were held straight before and during anaesthesia, the final phantom hand was bent at the wrist and fingers, but if the wrist and fingers were flexed before and during anaesthesia, the final phantom was extended at wrist and fingers. Hence, no 'default' posture existed for the phantom hand. The final perceived posture may depend on the initial and evolving sensory input during the block rather than the final sensory input (which should not differ for the two postures). In the second study subjects selected templates to indicate the perceived size of their hand. Perceived hand size increased by 34 ± 4% (mean ± 95% CI) during the block. Sensory changes were monitored. In all subjects, impairment of large-fibre cutaneous sensation began distally with von Frey thresholds increasing before cold detection thresholds (Aδ fibres) increased. Some C fibres subserving heat pain still conducted at the end of cuff inflation. These data suggest that changes in both perceived hand size and perceived position of the finger joints develop early when large-fibre cutaneous sensation is beginning to degrade. Hence it is unlikely that block of small-fibre afferents is critical for phantom formation in an ischaemic block.

The roles of COMT val158met status and aviation expertise in flight simulator performance and cognitive ability.

The polymorphic variation in the val158met position of the catechol-O-methyltransferase (COMT) gene is associated with differences in executive performance, processing speed, and attention. The purpose of this study is: (1) replicate previous COMT val158met findings on cognitive performance; (2) determine whether COMT val158met effects extend to a real-world task, aircraft navigation performance in a flight simulator; and (3) determine if aviation expertise moderates any effect of COMT val158met status on flight simulator performance. One hundred seventy two pilots aged 41-69 years, who varied in level of aviation training and experience, completed flight simulator, cognitive, and genetic assessments. Results indicate that although no COMT effect was found for an overall measure of flight performance, a positive effect of the met allele was detected for two aspects of cognitive ability: executive functioning and working memory performance. Pilots with the met/met genotype benefited more from increased levels of expertise than other participants on a traffic avoidance measure, which is a component of flight simulator performance. These preliminary results indicate that COMT val158met polymorphic variation can affect a real-world task.

Experiences of Parents of Specialist Peer Mentored Autistic University Students.

ABSTRCTBackground: Parents continue to support to autistic university students, and consequently, experience considerable stress.Aim: To explore the experiences of parents of specialist peer mentored university students and to examine these using the ICF as a theoretical framework.Method: Thirteen semi-structured interviews were completed and analyzed using thematic analysis. Directive content analysis linked the data to the ICF core set for autism spectrum disorders (ASD).Results: Five interrelated themes emerged: The mentoring relationship is a facilitator, Developing skills for university, Mentoring changes lives, Mentoring is not a substitute for other supports, and University is an emotional rollercoaster. Specialist peer mentoring was linked to Activity and Participation (44%) and Environmental factors (32%) of the ICF core set for ASD.Conclusion: These results add to the specialist peer mentoring evidence-base, and indicate perceived benefits for autistic university students and their parents. An unintended consequence was that parents broadened their participation in activities.

Contralateral Effects of Unilateral Strength and Skill Training: Modified Delphi Consensus to Establish Key Aspects of Cross-Education.

BACKGROUND: Cross-education refers to increased motor output (i.e., force generation, skill) of the opposite, untrained limb following a period of unilateral exercise training. Despite extensive research, several aspects of the transfer phenomenon remain controversial. METHODS: A modified two-round Delphi online survey was conducted among international experts to reach consensus on terminology, methodology, mechanisms of action, and translational potential of cross-education, and to provide a framework for future research. RESULTS: Through purposive sampling of the literature, we identified 56 noted experts in the field, of whom 32 completed the survey, and reached consensus (75% threshold) on 17 out of 27 items. CONCLUSION: Our consensus-based recommendations for future studies are that (1) the term 'cross-education' should be adopted to refer to the transfer phenomenon, also specifying if transfer of strength or skill is meant; (2) functional magnetic resonance imaging, short-interval intracortical inhibition and interhemispheric inhibition appear to be promising tools to study the mechanisms of transfer; (3) strategies which maximize cross-education, such as high-intensity training, eccentric contractions, and mirror illusion, seem worth being included in the intervention plan; (4) study protocols should be designed to include at least 13-18 sessions or 4-6 weeks to produce functionally meaningful transfer of strength, and (5) cross-education could be considered as an adjuvant treatment particularly for unilateral orthopedic conditions and sports injuries. Additionally, a clear gap in views emerged between the research field and the purely clinical field. The present consensus statement clarifies relevant aspects of cross-education including neurophysiological, neuroanatomical, and methodological characteristics of the transfer phenomenon, and provides guidance on how to improve the quality and usability of future cross-education studies.

Substantia nigra echomorphology and motor cortex excitability.

The aim of our study was to investigate the relation between substantia nigra (SN) echomorphology and indices of motor cortex excitability. Nigral hyperechogenicity in healthy individuals is thought to represent an SN abnormality or predisposition to Parkinson's disease (PD) and its prevalence is greater in the very old. Our study involved 20 old healthy subjects (aged 72-84 years) known to have normal (n=10) or abnormal (n=10) SN echomorphology. All were in good health with no overt neurological signs. SN morphology was assessed with transcranial sonography through the pre-auricular bone window. Motor cortical excitability and intracortical inhibition were assessed with transcranial magnetic stimulation (TMS) over the first dorsal interosseus motor area. Single stimuli were delivered during relaxation and voluntary contraction and paired stimuli were delivered during relaxation. Each cortical hemisphere was analysed separately. The response to single-pulse TMS (in motor cortex ipsilateral to the target SN) did not differ between groups. However, a significant difference between groups was observed in the paired pulse paradigm (conditioning stimulus intensity: 70% resting motor threshold; interstimulus interval: 2 ms). The conditioned motor evoked potential amplitude was significantly larger ipsilateral to the hyperechogenic SN than in controls (P=0.014). Thus, healthy subjects with SN hyperechogenicity exhibit significantly less intracortical inhibition within the motor cortex than subjects with normal echomorphology. Decreased intracortical inhibition is also observed in PD patients. This study provides further evidence that SN hyperechogenicity in healthy individuals is associated with changes characteristic of PD supporting a role for this feature as a vulnerability marker or state marker for subtle nigral dopaminergic dysfunction.

Unlike voluntary contractions, stimulated contractions of a hand muscle do not reduce voluntary activation or motoneuronal excitability.

Voluntary force declines during sustained, maximal voluntary contractions (MVC) due to changes in muscle and central nervous system properties. Central fatigue, an exercise-induced reduction in voluntary activation, is influenced by multiple processes. Some may occur independently of descending voluntary drive. To differentiate the effects associated with voluntary drive from other central and peripheral influences, we measured voluntary activation and motoneuron excitability following fatiguing contractions produced voluntarily or by electrical stimulation. On two separate days, participants performed either a 2-min MVC of adductor pollicis muscle or received 2-min continuous supramaximal electrical stimulation of the ulnar nerve. In study 1 (n = 14), the superimposed twitch elicited by ulnar nerve stimulation during brief MVCs was increased, and, hence, voluntary activation was reduced, up to 240 s after the 2-min MVC [-20 ± 12% (SD), P = 0.002] but not the 2-min stimulated contraction (-4 ± 7%), despite large reductions in MVC force (voluntary, -54 ± 18%; stimulated, -46 ± 16%). In study 2 (n = 12), F-waves recorded from the adductor pollicis were reduced in area for 150 s following the 2-min MVC (-21 ± 16%, P = 0.007) but not after the stimulated contraction (5 ± 27%). Therefore, voluntary activation and motoneuron excitability decreased only when descending voluntary drive was present during the fatiguing task. The findings do not exclude a cortical or brain stem contribution to the reduced voluntary activation but suggest that neither sensory feedback from the fatigued muscle nor repetitive activation of motoneurons underlie the changes, whereas they are consistent with motoneuronal inhibition by released factors linked to voluntary drive.NEW & NOTEWORTHY We demonstrate that reductions in voluntary activation and motoneuron excitability following 2-min isometric maximal contractions in humans occur only when fatigue is produced through voluntary contractions and not through electrically stimulated contractions. This is contrary to studies that suggest that changes in the superimposed twitch and therefore voluntary activation are explained by changes in peripheral factors alone. Thus, the interpolated twitch technique remains a viable tool to assess voluntary activation and central fatigue.

Acridine araphanes: a new class of probe molecules for biological systems.

The bis-acridine ring system forms the basis for new biophysical probes of novel stereochemistry. Spectral data indicate that certain alkylene bridged bis-9-aminoacridines have a parallel plane conformation of predictable interplane distance. The parallel plane conformation is independent of solvent and thus is different from nucleic acid systems. This stable conformation allows these compounds to be used as sensitive "rulers" for describing binding site geometry in cholinergic enzymes and in the delineation of the mechanism of allosteric control in acetylcholinesterase.

Structure, fit and coherence of two circumplex assessments of personality in a population with intellectual disabilities.

BACKGROUND: Little research has been conducted investigating the way in which personality constructs relate to people with intellectual disabilities. The small amount of research that does exist suggests that underlying personality structure may be considerably different to that found in mainstream research. This hypothesis is, however, untested because so little work has been conducted with this population. METHOD: Two circumplex models, the Interpersonal Adjective Scales and the CIRCLE, were employed to explore the factor structure, coherence and fit of these models with this population. One hundred and twenty-three participants from forensic intellectual disability services were rated by staff on the assessments, although not all assessments were completed for all participants. RESULTS: The factor structures for both assessments conform broadly with a theoretical structure. Hypotheses concerning the magnitude and direction of Spearman's correlations both within and between assessments were generally confirmed. CONCLUSION: While results would support the applicability of mainstream personality assessments to this client group, cautions were expressed in relation to the source of the sample and to the method of data collection.