French translation and validation of a fragile X syndrome screening checklist

Background: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability among men. This syndrome is frequently underdiagnosed in adults. The aim of this study was to develop and validate a French translation of the screening checklist Fragiele-X screeningslijst.

Method: The validation sample for the translated checklist included 22 pairs of men between the ages of 18 and 52, matched by age and degree of intellectual impairment.

Results: The translated checklist achieved coefficients of 0.92 for internal consistency, 0.90 for test-retest reliability and 0.65 for inter-rater reliability. These psychometric properties are commensurate with those of the original checklist.

Conclusion: Therefore, the translated checklist developed in this study can be considered a valid screening instrument for the detection of FXS in men with intellectual disabilities.

Abbreviations: FXS: fragile X syndrome; FMR1: fragile X mental retardation 1 (gene)     

A Note on the “One Case per Stagger Position” Character of Common Multiple-Baseline Intervention Designs

Purpose: To overcome the constraint of common multiple-baseline designs that only one case per stagger position is permitted.

Methods: Three alternative strategies for assigning more than one case to each stagger position are examined.

Results: The three recommended strategies achieve the objective while maintaining the study’s internal and statistical-conclusion validities.

Conclusions: ExPRT, a freely available Excel-based randomization-test package, can be used to assist in both the design and statistical analysis associated with each of the strategies.     

Exploring dimensions of social support and resilience when providing care at the end of life: a qualitative study

Background: Research shows that formal and informal social support can facilitate resilience in carers. There is a paucity of research exploring social support and resilience amongst recently bereaved informal carers.

Aim: To examine how the presence or absence of distinct dimensions of social support facilitate or hinder resilience in recently bereaved informal carers.

Participants: 44 bereaved carers, who had been identified by GP as ‘main carer’ of someone recently deceased (3–12 months), aged between 38 and 87 years old (mean= 67).

Methods: Thematic analysis then the Ecological Framework of Resilience as an organisational tool to develop overarching themes in the data. We used the Sherbourne and Stewart model to identify social support that was lacking as well as social support that was present.

Results: A range of social support types were identified. There was an emphasis on the importance of relationships with both health professionals and family members, including the care recipient. However, social support was not necessary for resilience if the participant had other resources.

Conclusions: Social support for carers providing end of life care is almost exclusively based around end of life care ‘work’. In comparison to other research our study suggests that relationships with family and health professionals are paramount. Multidimensional support is needed for carers to enhance their resilience.     

Estimation of skeletal muscle mass in patients with spinocerebellar ataxia type 3 and 10

Background: Neurodegenerative diseases may progress to a level in which patients present spontaneous weight loss, resulting in increased falls and functional disabilities when the disease is associated with muscle mass depletion.

Objective: Evaluate the muscle compartment in patients presenting spinocerebellar ataxia (SCA) type 3 and 10.

Methods: Forty-six patients presenting SCA type 3 and 10 were assessed and 76 volunteers were selected to the control group. In order to evaluate the muscle compartment, muscle mass anthropometric measurements were assessed and total skeletal muscle mass calculated through a predictive equation.

Results: Women with SCA3 presented greater weight loss and muscle mass reduction compared to those with SCA10 and the control group. Among the predictive measurements, calf muscle circumference showed a more significant correlation with total skeletal muscle mass (p = 0.718).

Conclusion: Patients presenting both types of ataxia did not show severe depletion in their nutritional status; however, those with SCA3 displayed greater weight loss and muscle mass reduction compared to the SCA10 group.     

Choosing among second-generation antidepressant treatments for depressed patients with cardiac diseases

Objectives: The present paper aimed to assist physicians in the accurate choice among second-generation agents (SGAs) for patients with cardiovascular disease (CVD).

Methods: We reviewed the published pharmacokinetic (PK) and pharmacodynamic (PD) clinical data that report potential -or absence of- drug interactions between second-generation agents (SGAs) and CVD drugs most commonly used in cardiology, including antiplatelet drugs and anticoagulants, statins, beta-blockers, angiotensin-converting enzyme inhibitors, calcium channel blockers, diuretics and the antiarrhythmic drugs amiodarone and digoxin.

We also reviewed the cardiovascular safety profile that has been published for each class of SGAs and side effects reported by patients with CVD.

Results: Most relevant PK/PD data about SGAs and CVD drugs are based on small studies or detailed case reports. In many cases, the drug interactions are at most assessed in healthy volunteers so that the clinical relevance of findings needs further investigation in patients with CVD. Case reports of serious, sometimes fatal reactions due to concomitant administration of certain drugs require careful consideration.

The major cardiac side effects of SGAs include HR increase, postural hypotension and slight prolongation of the intraventricular conduction time and QT interval. On normal dosage of antidepressants, both advanced heart block and ventricular arrhythmias could occur in patients with severe heart disease, together with clinically important loss of myocardial contractile force.

Conclusions: Data reported in the present review should help physicians about their decision-making processes that govern SGAs use in CVD patients.     

Screening Adherence for Depression Post Stroke: Evaluation of Outpatients,a London Experience (SAD PEOPLE)

Background: Post stroke depression (PSD) is common, and the transition home following discharge may be especially challenging for stroke survivors.

Objectives: This study aimed to determine how well specific Canadian Best Practice Recommendations for PSD screening were adopted within a stroke rehabilitation outpatient clinic before and after the utilization of a standardized clinical form.

Methods: Practices were evaluated through retrospective chart review before and after the implementation of the standardized form which cued physicians to administer the Patient Health Questionnaire 9 (PHQ-9) at the first outpatient visit. Participants included those aged ≥18 years with a primary diagnosis of stroke.

Results: One hundred thirty-five subjects’ charts were reviewed. Form implementation was associated with increased rates of PSD screening (93.8% versus 0%) and charting regarding mood (55.4% versus 15.7%).

Conclusion: This study highlights the frequency of depressive symptoms in an outpatient cohort and demonstrates how screening rates can be improved by using a standardized form. Routine PHQ-9 completion at the first outpatient visit was associated with more physician–patient discussion and documentation regarding mood.     

Effect of activity-based mirror therapy on lower limb motor-recovery and gait in stroke: A randomised controlled trial

Objective: To determine the effect of activity-based mirror therapy (MT) on motor recovery and gait in chronic poststroke hemiparetic subjects.

Design: A randomised, controlled, assessor-blinded trial.

Setting: Rehabilitation institute.

Participants: Thirty-six chronic poststroke (15.89?±?9.01 months) hemiparetic subjects (age: 46.44?±?7.89 years, 30 men and functional ambulation classification of median level 3).

Interventions: Activity-based MT comprised movements such as ball-rolling, rocker-board, and pedalling. The activities were provided on the less-affected side in front of the mirror while hiding the affected limb. The movement of the less-affected lower limb was projected as over the affected limb. Conventional motor therapy based on neurophysiological approaches was also provided to the experimental group. The control group received only conventional management.

Main outcome measures: Brunnstrom recovery stages (BRS), Fugl-Meyer assessment lower extremity (FMA-LE), Rivermead visual gait assessment (RVGA), and 10-metre walk test (10-MWT).

Results: Postintervention, the experimental group exhibited significant and favourable changes for FMA-LE (mean difference?=?3.29, 95% CI?=?1.23–5.35, p?=?.003) and RVGA (mean difference?=?5.41, 95% CI?=?1.12–9.71, p?=?.015) in comparison to the control group. No considerable changes were observed on 10-MWT.

Conclusions: Activity-based MT facilitates motor recovery of the lower limb as well as reduces gait deviations among chronic poststroke hemiparetic subjects.     

Acute aseptic meningitis during isotretinoin treatment for nodular acne solely presenting with headache: case report and brief review of the literature

Purpose/aim: We describe, in detail, the first case of isotretinoin-induced aseptic meningitis. A brief summary of the literature on drug-induced aseptic meningitis (DIAM) is also presented.

Materials and methods: A 20-year old female patient with probable (Naranjo adverse reaction probability score of 7) DIAM during treatment with isotretinoin therapy for nodular acne solely, presenting with headache. Pseudotumor cerebri was appropriately ruled-out.

Results: Summary of data altogether lead us suggest that isotretinoin triggered DIAM, possible due to a delayed hypersensitivity mechanism type III or IV.

Conclusion: We highlight a quite uncommon cause of DIAM that may be increasing in frequency due to the current increasing use of isotretinoin against nodular acne.     

A treatment comparison study of a photo activity schedule and Social Stories for teaching social skills to children with Autism Spectrum Disorder: brief report

Purpose: To compare the efficacy of two procedures, a photo activity schedule intervention and Social Stories, to teach social skills to four children diagnosed with Autism Spectrum Disorder (ASD).

Methods: An adapted alternating treatments design with an additional multiple baseline control was used, and two social skills were targeted for each of the four participants, one under each intervention condition.

Results: Results indicated that all four participants learned the target social behaviours with the photo activity schedule intervention, but did not learn target social behaviours with Social Stories.

Conclusions: Findings support the use of a photo activity intervention for teaching social skillsto children with ASD; we discuss the implications of inconsistent findings of effectiveness of Social Stories.     

Predictors of maternal stress in pre-school and school-aged children with autism

Background: Mothers of children with autism experience high levels of stress. However, little is known about whether maternal stressors differ across children of different ages.

Method: This study investigated stressors in mothers of 29 pre-school-aged and 27 school-aged children with autism. Correlation and regression analyses were used to determine if maternal stressors differed between the two age groups.

Results: Findings revealed no difference in maternal stress levels across the two age groups; however, stressors for each age group were different. Stressors in the school-aged group were related to repetitive behaviours, sensory sensitivities, and problematic behaviours, while stressors in the pre-school-aged group were mainly related to adaptive behaviours.

Conclusions: These findings are informative for practitioners and highlight the need for tailored supports and therapies for mothers of children with autism of different ages.     

An international survey of obesity and underweight in youth and adults with intellectual disabilities

Background: Increased levels of obesity have been reported for people with intellectual disability based on data mostly gathered in high income countries. Likewise few studies internationally have focussed on underweight in this population.

Method: Data on obesity and underweight were analysed from nearly 86,500 youth and adults with intellectual disabilities drawn from 178 countries attending Special Olympic events.

Results: Binary logistic regressions identified higher levels of obesity for athletes in high income countries – especially in North America – and for females and for adults aged 40 years and over; and for youth aged 8 to 10 years. Rates of underweight were higher for younger adults in low income countries of Asia-Pacific, and highest for males aged 11-13 from lower-middle income countries of Africa.

Conclusions: Contrasting intervention strategies are needed globally to enable people with intellectual disabilities to achieve healthy weight.     

Long-term cardiovascular safety of psychostimulants in children with attention deficit hyperactivity disorder

Objective: Side effects are a concern during psychostimulant treatment. Unfortunately, many previous studies only investigated short-term effects of psychostimulants in laboratory settings which lack clinical daily routines.

Methods: We examined 1042 patient records of patients with attention deficit hyperactivity disorder (ADHD) who were referred to a pediatric-psychiatry practice over 12?years. Data analysis was based on 466 children with ADHD who were newly treated with psychostimulants and who were not in treatment for elevated blood pressure. We analysed blood pressure percentiles, heart rate and BMI percentiles.

Results: There was a decrease in systolic and diastolic blood pressure percentiles. Heart rate was not affected. BMI slightly declined in girls.

Conclusions: In general psychostimulants were safe. To further elucidate negative effects of psychostimulants, long-term controlled and randomized studies in naturalistic settings are of interest.     

Smell your memories: Positive effect of odor exposure on recent and remote autobiographical memories in Alzheimer’s disease

Introduction: There is a burgeoning interest in the effects of odor exposure on autobiographical memory in Alzheimer’s disease (AD). We pursued this line of research by assessing the effect of odor exposure on the retrieval of recent and remote memories in AD.

Method: Twenty-six patients with mild AD and 28 controls were tested in two conditions: with and without odor exposure. In each condition, participants were invited to retrieve two childhood memories, two adulthood memories, and two recent memories.

Results: Analysis showed that AD patients produced a higher number of and more specific childhood memories, adulthood memories, and recent memories after odor exposure than without odor.

Discussion: These findings demonstrate how odor exposure may alleviate anterograde and retrograde amnesia, at least when considering the ability of patients with mild AD to retrieve few recent or remote memories.     

Perspectives of carers of people with intellectual disability accessing general practice: “I’d travel to the ends of the earth for the right person”⁣

Background: Informal carers often play an integral role in the lives of people with intellectual disability (ID) residing in the community. In this study, we explored the extent to which carers of people with ID believe that the health care needs of the person they care for are being accommodated by general practice.

Method: Semi-structured interviews were conducted with 25 informal carers to people with ID living in Australia.

Results: Carers of people with ID report that they experience considerable barriers to accessing general practice care on behalf of the people they care for.

Conclusions: Given the ever-increasing number of people with ID now living in the community and their vulnerability to health problems, it is imperative that future research focuses on the development of strategies to overcome the barriers identified in this study.     

Using photographs to explore self-understanding in adolescent boys with an autism spectrum condition

Background: Research evidence suggests that self-understanding is likely to be limited in individuals with autism.

Method: Photo-elicitation interview was used to explore self-understanding in five adolescent boys diagnosed with an autism spectrum condition.

Results: An interpretative phenomenological analysis yielded three superordinate themes: self in action, self extended in time and self in relation to others. These themes captured how participants understood themselves in terms of their actions and abilities, in the context of their past and future and in relation to others.

Implications: The findings suggested that self-understanding is informed by relationships with parents, self-other comparisons and by reflecting on past and future selves, as well as on activities engaged in. Photo-elicitation was effective in engaging participants with the research process.     

Moderators,mediators and nonspecific predictors of outcome after cognitive rehabilitation of executive functions in a randomised controlled trial

Moderators, mediators and nonspecific predictors of treatment after cognitive rehabilitation of executive functions in a randomised controlled trial

Objective: To explore moderators, mediators and nonspecific predictors of executive functioning after cognitive rehabilitation in a randomised controlled trial, comparing Goal Management Training (GMT) with an active psycho-educative control-intervention, in patients with chronic acquired brain injury.

Methods: Seventy patients with executive dysfunction were randomly allocated to GMT (n?=?33) or control (n?=?37). Outcome measures were established by factor-analysis and included cognitive executive complaints, emotional dysregulation and psychological distress.

Results: Higher age and IQ emerged as nonspecific predictors. Verbal memory and planning ability at baseline moderated cognitive executive complaints, while planning ability at six-month follow-up mediated all three outcome measures. Inhibitory cognitive control emerged as a unique GMT specific mediator. A general pattern regardless of intervention was identified; higher levels of self-reported cognitive—and executive–symptoms of emotional dysregulation and psychological distress at six-month follow-up mediated less improvement across outcome factors.

Conclusions: The majority of treatment effects were nonspecific to intervention, probably underscoring the variables’ general contribution to outcome of cognitive rehabilitation interventions. Interventions targeting specific cognitive domains, such as attention or working memory, need to take into account the patients’ overall cognitive and emotional self-perceived functioning. Future studies should investigate the identified predictors further, and also consider other predictor candidates.     

To what extent is subjective well-being in late adulthood related to subjective and objective memory functioning? Five-year cross-lagged panel analyses

Background: Population aging motivated a focus in contemporary research on factors, e.g. cognitive functioning, that contribute to ‘aging well.’ However, something that has been overlooked is relation between memory functioning, determined by objective tests as well as subjective memory ratings, and subjective well-being (SWB).

Objectives: The aim of the present study was to investigate cross-sectional and longitudinal (cross-lagged) relationships between episodic memory (both subjective and objective) and SWB.

Method: A total of 586 older individuals (60–90 years) were assessed on multiple measures of the targeted constructs at baseline (Time 1) as part of the Betula cohort study. Five years later (Time 2), 354 of the participants returned for follow-up measurements and were included in cross-lagged panel analyses.

Results: As expected, objective memory and subjective memory showed a pattern of cross-sectional age deficits and a mean level longitudinal decline was observed for objective memory. By contrast, SWB showed stable mean levels both across age and time. No cross-sectional or cross-lagged associations were observed between SWB and objective memory, whereas subjective memory and SWB showed a cross-sectional association.

Conclusion: The results underscore that successful aging is a multifaceted construct with no or only weak associations between the investigated components. However, SWB and rate of change at the individual level should be considered to define successful aging.     

The evidence for prolonged muscle stretching in ankle joint management in upper motor neuron lesions: considerations for rehabilitation – a systematic review

Background: As clinicians, muscles stretching approaches are one of the most commonly used interventions in rehabilitation. However, there is a need for an in-depth evaluation of research on prolonged stretching in terms of the features of the stretching approaches, such as duration and frequency, as well as the compatible measures of a successful stretching approach.

Objective: This review is an effort to synthesize findings from studies on “prolonged” stretching approaches in patients with UMNs including stroke, spinal cord injuries, and traumatic brain injuries. We investigated the compatible features of successful stretching regimens in terms of reducing spasticity, improving the Active Range of Motion (AROM), Passive Range of Motion (PROM), and gait training of spastic patient with upper motor neuron lesions.

Methods: Studies evaluating the effectiveness of “prolonged” stretching on spastic ankle planterflexor muscles and its complications were critically reviewed, and the level of evidence was analyzed.

Results: There is a sufficient level of evidence to support the use of stretching as and effective techniques in rehabilitation. However, more research is yet to be done to objectively examine the ideal parameters of a successful stretching approach using functional assessments, such as walking, speed, walking capacity, and balance.

Conclusion: The review adds stronger understanding with regard to stretching considerations in rehabilitation following UMNs. The ideal approach, as well as the functional implications on motor performance are yet to be further studied.     

The effects of computer-based cognitive rehabilitation in patients with visuospatial neglect following stroke: a systematic review

Objectives: To identify studies concerning the effects of computer based cognitive rehabilitation (CBCR) on visuospatial neglect (VN) after stroke to summarize the current state of knowledge in this research field and make recommendations for future research.

Methods: Four electronic databases were systematically searched. Authors of relevant studies were contacted to detect unpublished data or articles not found by searching databases. Data was extracted from included studies using predefined coding schemes and characteristics and results of individual studies were summarized qualitatively.

Selection criteria: Studies were included if at least 50% of the included patients had a stroke, if the studies explored the effects of CBCR as a primary intervention for rehabilitation of VN and if they included neuropsychological outcome measures for the presence of VN.

Results: Seven studies were included. Six of the seven studies suggested positive effects of CBCR on VN after stroke. However, the study that did not find these effects was also the study with the strongest methodological quality. All included studies consisted of small samples, varied greatly in design and had various methodological limitations.

Conclusion: Because the existing literature is very sparse and studies have various methodological limitations, it is currently not possible to either support or reject the effects of CBCR on VN after stroke. Future studies should aim to compare CBCR with active and passive control conditions and include larger samples in randomized and blinded designs.     

Factors affecting rehabilitation and use of upper limb after stroke: views from healthcare professionals and stroke survivors

Background: Training of the upper limb (UL) is limited in stroke rehabilitation, and about 50% of stroke survivors do not regain useful function in their upper limb.

Objectives: This study explored what factors affect rehabilitation and use of upper limb after stroke from a stroke survivor and healthcare professional perspective to better understand low engagement in UL rehabilitation in the chronic stages of stroke.

Method: Eight chronic stroke survivors and 21 healthcare professionals took part in semi-structured interviews or in one of three focus groups, respectively.

Results: Thematic analysis revealed three main themes: Availability of resources, Healthcare professional–patient relationship, and Psychosocial factors. Availability of resources and Healthcare professional–patient relationship indicated that due to resource pressures and a lack of communication and education, positive upper limb rehabilitation behaviors (e.g. engaging and integrating the upper limb in daily activity) were not always established in the early stages post-stroke. Psychosocial factors illustrated the cognitive and psychological barriers to sustained engagement with upper limb rehabilitation.

Conclusion: The findings indicate that stroke survivors and healthcare professionals have very similar understandings of barriers to UL activity, and positive upper limb rehabilitation behaviors are not always established early in recovery post-stroke. Increased resources and healthcare professional–patient relationships seem key factors to establishing positive perceptions of UL rehabilitation. Addressing psychosocial issues and resource limitations may help sustain engagement with UL rehabilitation.