Goal attainment of children with cerebral palsy participating in multi-modal intervention.

AIM: We aimed to determine if there was a significant difference in the functional performance of family requested daily tasks by a heterogeneous group of children with cerebral palsy following a programme of neuro-developmental treatment and in comparison to a randomly control group. BACKGROUND: There are considerable challenges in conducting research into the functional performance of children with cerebral palsy. These include the highly heterogeneous nature of the population group, poor ecological and treatment fidelity, floor and ceiling effects in assessments, and insensitivity to the diverse functional needs and goals of children and families. Therapists and families identified functional goals and specified all aspects of performance details for each goal on five point goal attainment scales. Children with cerebral palsy were assigned randomly to treatment and alternate treatment groups. Children were video recorded attempting to perform targeted functional skills at pre-test, post-pest and follow-up. Videos were recorded and rated by expert clinicians blind to experimental condition. RESULTS: After the first round of target intervention and alternate treatment had been completed, a significant difference in the goal attainment was noted between the control group and the treatment group at the post test, indicating that intervention was associated with a higher level of goal attainment than that attained by the control group (p = 0.0321) with a large effect size. CONCLUSIONS: The study provided evidence of an effective way to investigate and to enhance the available motor capacity of children with moderate to severe cerebral palsy during participation in requested daily task performance, as reflected in goal attainment. Goal attainment scales were a reliable measure that was able to be used to detect changes in functional goals among a highly heterogeneous population group with individualized goals that were meaningful to each child and family.

Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccination.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated inflammatory demyelinating disease of the central nervous system. We report a case of ADEM presenting with bilateral optic neuritis temporally associated with the ChAdOx1 vaccine against SARS-COVID19 virus. CASE PRESENTATION: A 36-year-old female presented with bilateral optic neuritis following her first dose of the ChAdOx1 vaccine. Initial MRI Brain showed evidence of demyelination within the subcortical white matter, with no radiological involvement of the optic nerves. Visual evoked potentials were consistent with bilateral optic neuritis which was confirmed radiologically on follow up MRI. She was treated with intravenous steroids with improvement both in symptoms and radiological appearance. A pseudo-relapse occurred which was treated with a further course of intravenous steroids followed by an oral taper. The clinical, radiological and serological results were most consistent with diagnosis of ADEM. CONCLUSIONS: ADEM is an exceedingly rare complication of ChAdOx1 vaccine despite millions of doses. While it is imperative clinicians remain aware of neurological complications of vaccines, the importance of vaccination to control a pandemic should not be undermined.

Predicting Housing Related Delayed Discharge from Mental Health Inpatient Units: A Case Control Study.

The aims of this study were to identify factors that a) predict whether people experience housing related discharge delay (HRDD) from a mental health inpatient unit; and b) predict the length of HRDD for people affected. By identifying the groups most affected by HRDD, clinicians and policy makers can prioritise and address barriers to timely discharge at both an individual and systemic level. A case control study using a detailed medical record review was conducted in one Australian mental health service. Demographic, clinical, contextual and systemic variables were collected for patients with HRDD in one calendar year (n = 55) and a random comparison sample (n = 55). Logistical and multiple regression analyses were conducted to identify variables that predict HRDD and length of HRDD. A model that correctly predicted 92% of HRDD and 78% of non-HRDD cases using five variables was developed. These variables were: diagnosis of schizophrenia or other psychotic disorder, physical comorbidity, having a history of violence or aggressive behaviour, being employed and being involved as a defendant in the justice system. The first three variables increased the likelihood of HRDD, while the second two reduced the likelihood of HRDD. For people who experienced HRDD, the only variable that predicted length of delay was staff reported difficulty finding appropriate support services. This model can be used to rapidly identify patients who might be at risk of HRDD and commence coordinated actions to secure appropriate housing and supports to facilitate timely discharge, thereby addressing a current practice gap. These findings highlight the intersection between health, housing and disability services in the lives of people with serious mental illness, and the need for a whole of government approach to investment and integration to address systemic barriers to suitable housing and supports.

A Clinical Trial Investigating Telehealth and In-Person Social Communication Skills Training for People With Traumatic Brain Injury: Participant-Reported Communication Outcomes.

OBJECTIVE: To investigate the efficacy of telehealth-based and in-person social communication skills training (TBIconneCT) for people with moderate to severe traumatic brain injury (TBI) based on outcomes reported by the survivor and a close communication partner. SETTING: Australia. Two telehealth dyads were located outside Australia. PARTICIPANTS: Adults (n = 51) at least 6 months after moderate-severe TBI with social communication skills deficits, and their usual communication partners (family members, friends, or paid carers). DESIGN: Partially randomized controlled trial, with a telehealth intervention group, in-person intervention group, and a historical control group. MAIN MEASURES: La Trobe Communication Questionnaire (LCQ) (total score, and number of items with perceived positive change). Both self- and other-reports. RESULTS: Trained participants had significantly more items with perceived positive change than did historical controls. A medium effect size in the sample was observed for improvements in total score reported by trained communication partners after treatment. Comparisons between telehealth and in-person groups found medium to large effect sizes in the sample, favoring the telehealth group on some LCQ variables. CONCLUSIONS: Whether delivered via telehealth or in-person, social communication skills training led to perceived positive change in communication skills. It was unexpected that outcomes for the telehealth group were better than for the in-person group on some variables.

The effect of mental health screening and referral on symptoms of depression among HIV positive outpatients in Vietnam: Findings from a three-month follow up study.

This study investigated whether screening for symptoms of mental disorders and referral to mental health services was associated with decreased depression symptoms among people living with HIV/AIDS (PLHIV) in Vietnam. Four hundred PLHIV (63.5% male, mean age 34.8 (SD = 6.8) years) at two outpatient clinics in Ho Chi Minh City were interviewed by psychiatrists and also completed the Center for Epidemiologic Studies-Depression scale (CES-D). One hundred and seventy-four (43.5%) were identified with symptoms of a range of mental illnesses, including depression, anxiety, alcohol use disorder, substance use disorder and HIV associated dementia and were referred to mental health services. Of the 174 PLHIV referred, 162 (93%) returned and completed the CES-D three months later and 125 of these 162 (77%) had attended a mental health service and undertaken treatment. A significant improvement was found in the mean CES-D scores of the 125 attenders from baseline (M = 19.0, SD = 7.5) to month three (M = 11.7, SD = 7.9, p < 0.001). PLHIV who had attended a mental health service and undertaken treatment demonstrated a greater reduction of mean scores on the CES-D compared to PLHIV who had either received a referral but not attended a mental health service to undertake treatment, or not been referred initially.

Patterns of cognitive strategy use common in children with reduced social competence derived from parent perceptions.

INTRODUCTION: Occupational therapists are increasingly being referred children who experience reduced social competence. Ineffective use of cognitive strategies during social interactions is known to contribute to reduced social competence in children who have difficulty learning. Little is known about the nature of social cognitive strategy use or how it may be observed in children during performance of school occupations. This study aimed to explore the type of difficulties in cognitive strategy use that children experience during performance of social tasks as perceived by their parents. METHODS: A retrospective chart review was used to analyse 306 PRPP@HOME (Primary) Parent/Caregiver Questionnaire responses targeting parent perceptions of their child's cognitive strategy use during social interactions. The children were in the first four years of formal schooling and identified by their teachers as having difficulties with social skills. Factor analysis was used to discover conceptual groupings amongst cognitive strategy use items. RESULTS: Four factors emerged from the analysis. Factor One grouped PRPP cognitive strategy items related to organised thinking, attention and processing external sensory details during social performance. Factor Two grouped items related to higher level thinking for internal self-evaluation of behaviour. Factor Three grouped items related to focused and dual attention during social interactions. Factor Four grouped items related to performance and adjustment of behaviour to match the context of social interaction. CONCLUSION: Parent perceptions indicate that children with reduced social competence experience inefficient use of cognitive strategies which organise attention, sensory perception and planning. This information can be used to specifically target programs which better support the thinking strategies which facilitate children's participation during social activities at school.

Symptoms of Depression in People Living with HIV in Ho Chi Minh City, Vietnam: Prevalence and Associated Factors.

This cross-sectional study investigated the prevalence and correlates of symptoms of depression among 400 people living with HIV/AIDS (PLHIV) from two HIV clinics in Ho Chi Minh City, Vietnam. Based on the Center for Epidemiologic Studies-Depression scale, 36.5% of participants were classified as likely to be clinically depressed. Factors independently associated with symptoms of depression included self-report of poor or fair health (aOR 2.16, 95% CI 1.33-3.51), having a low body mass index (aOR 1.85, 95% CI 1.13-3.04), reporting recent problems with family (aOR 1.97, 95% CI 1.21-3.19), feeling shame about being HIV-infected (aOR 1.90, 95% CI 1.20-3.00), and reporting conflict with a partner (aOR 2.21, 95% CI 1.14-4.26). Participants who lived with family (aOR 0.48, 95% CI 0.25-0.90) or who received emotional support from their families or supportive HIV networks (aOR 0.45, 95% CI 0.25-0.80) were less likely to experience symptoms of depression. Screening for and treatment of depression among Vietnamese PLHIV are needed.

Incidence and prevalence of NMOSD in Australia and New Zealand.

OBJECTIVES: We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence and prevalence across the region and in populations of differing ancestry. BACKGROUND: NMOSD is a recently defined demyelinating disease of the central nervous system (CNS). The incidence and prevalence of NMOSD in Australia and New Zealand has not been established. METHODS: Centres managing patients with demyelinating disease of the CNS across Australia and New Zealand reported patients with clinical and laboratory features that were suspicious for NMOSD. Testing for aquaporin 4 antibodies was undertaken in all suspected cases. From this group, cases were identified who fulfilled the 2015 Wingerchuk diagnostic criteria for NMOSD. A capture-recapture methodology was used to estimate incidence and prevalence, based on additional laboratory identified cases. RESULTS: NMOSD was confirmed in 81/170 (48%) cases referred. Capture-recapture analysis gave an adjusted incidence estimate of 0.37 (95% CI 0.35 to 0.39) per million per year and a prevalence estimate for NMOSD of 0.70 (95% CI 0.61 to 0.78) per 100 000. NMOSD was three times more common in the Asian population (1.57 (95% CI 1.15 to 1.98) per 100 000) compared with the remainder of the population (0.57 (95% CI 0.50 to 0.65) per 100 000). The latitudinal gradient evident in multiple sclerosis was not seen in NMOSD. CONCLUSIONS: NMOSD incidence and prevalence in Australia and New Zealand are comparable with figures from other populations of largely European ancestry. We found NMOSD to be more common in the population with Asian ancestry.

The association between symptoms of mental disorders and health risk behaviours in Vietnamese HIV positive outpatients: a cross-sectional study.

BACKGROUND: A high prevalence of symptoms of mental disorders (SOMD) has been found among people living with HIV/AIDS (PLHIV). Additionally, SOMD may impact on the prevalence of high-risk health behaviours (HRB). This study investigates the relationship between SOMD and HRB in a large sample of Vietnamese HIV positive outpatients. METHODS: A cross-sectional study was conducted with 400 outpatients at two HIV/AIDS clinics in Ho Chi Minh City, Vietnam, selected using a systematic sampling technique. Validated scales were used to measure SOMD, specifically symptoms of depression, anxiety, alcohol use disorder (AUD), substance use disorder (SUD) and HIV associated dementia (HAD). Participants completed a self-report questionnaire assessing HRB during the preceding 12 months including unsafe sexual practices and illicit drug use. Multivariable logistic regression models were used to evaluate associations between SOMD and HRB. RESULTS: The majority of participants (63.5%) were male and the median age was 34.0 years. Unsafe sexual practices and illicit drug use were reported by 13.8 and 5.5% of participants. The prevalences of HAD, depression, AUD, anxiety and SUD symptoms were 39.8, 36.5, 13.3 10.5, 3.3% respectively. There was no association between SOMD and HRB either with or without adjusting for correlates of HRB, except between symptoms of SUD and illicit drug use. PLHIV who had symptoms of SUD were more likely to use illicit drugs (adjusted Odds Ratio 81.14, 95% CI 12.55-524.47). CONCLUSIONS: While the prevalence of SOMD among HIV positive outpatients was high, most SOMD were not associated with increased HRB. Only illicit drug use was predicted by symptoms of SUD. Screening PLHIV for symptoms of SUD may be useful for detecting people likely to be engaging in illicit drug use to reduce the risk of secondary disease transmission.

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.

CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ∼80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing. © 2016 Wiley Periodicals, Inc.

Screening value of the Center for epidemiologic studies - depression scale among people living with HIV/AIDS in Ho Chi Minh City, Vietnam: a validation study.

BACKGROUND: Depression is believed to be under-diagnosed and under-treated in people living with HIV/AIDS (PLHIV). Early screening and referral to mental health services for treatment has been shown to enhance HIV patients' health during the course of HIV treatment. A lack of psychiatric specialist services for PLHIV at outpatient clinics (OPC) in Vietnam leads to insufficient identification of depression. However, alternative approaches are available such as the use of screening scales. This study investigated the psychometric properties of the Center for Epidemiologic Studies - Depression scale (CES-D) in Vietnamese HIV positive outpatients. METHODS: A cross-sectional survey of 400 HIV positive outpatients was conducted in Ho Chi Minh City, Vietnam. Participants completed a self-reported questionnaire that included the CES-D. Participants were also interviewed independently by a psychiatrist who assessed for symptoms of major depressive disorder. CES-D reliability was measured by Cronbach's alpha. Criterion validity was evaluated by ROC analysis, Kappa index and the percentage of agreement between the CES-D and psychiatrists' interview. Construct validity was investigated by confirmatory factor analysis. RESULTS: The reliability for the whole scale was good (Cronbach α = 0.81). The four sub-scales of the CES-D had lower levels of internal consistency with Cronbach alpha of 0.71, 0.73, 0.71 and 0.58 for somatic complaints, depressive affect, positive affect and interpersonal problems respectively. CES-D has adequate construct validity with CFI = 0.926, IFI = 0.927, GFI = 0.930 and RMSEA = 0.045 (90% CI = 0.037-0.053) in the final four-factor model. Area under curve was 0.88 indicating good criterion validity. At the cutoff of 16, the sensitivity and specificity were 79.8% and 83.0% respectively while the percentage of agreement between the CES-D and psychiatrists' interview was 82.0% with Kappa index at 0.60. CONCLUSIONS: The CES-D was shown to be acceptable, reliable and valid for screening symptoms of depression in Vietnamese HIV outpatient clinic settings where mental health specialists are not always available. Routine use of the CES-D at HIV outpatient clinics, in combination with the availability of free-for-all national mental health services, is likely to be beneficial in improving the lives of PLHIV in Vietnam who have depression.

A new era in the treatment of multiple sclerosis.

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system with a multifactorial aetiology and highly variable natural history. A growing understanding of the immunopathogenesis of the condition has led to an expanding array of therapies for this previously untreatable disease. While a cure for MS remains elusive, the potential to reduce inflammatory disease activity by preventing relapses and minimising disease progression is achievable. The importance of early treatment in minimising long-term disability is increasingly recognised. Most of the newer, more effective therapies are associated with risks and practical problems that necessitate an active management strategy and continuous vigilance. While the initiation of these therapies is likely to remain the responsibility of neurologists, other specialist physicians and general practitioners will be involved in the identification and management of adverse effects.

Measuring task performance after acquired brain injury: Construct and concurrent validity of 'Upper Limb Performance Analysis'.

OBJECTIVE: This preliminary investigation studies selected aspects of validity of the Upper Limb Performance Analysis (ULPA), an occupation-based functional upper limb (UL) measure. METHODS: The study investigated the ULPA-Task Performance Mastery (ULPA-TPM) in 35 community dwelling adults with upper motor neuron syndrome following acquired brain injury and 26 healthy controls. Construct and concurrent validity of the ULPA were determined via group discrimination between adults with and without ABI; and ABI participants who were and were not referred for UL spasticity management with botulinum toxin-A injections (injected and non-injected group). Concurrent validity was examined by investigating the relationships between the ULPA and an existing functional UL measure, the Action Research Arm Test, using Spearman's rank-order correlation. RESULTS: Significant differences in UL performance were demonstrated between the ABI and the Control group on all ULPA sub-scales (including: Omission (z = -2.6 to -3.6, rspb = 0.37-0.48), Accuracy (z = -5.8 to -6.0, rspb = 0.78-0.82), Repetition (z = -5.1 to -5.4, rspb = 0.63-0.73) and Timing errors (z = -5.9 to -6.2, rspb = 0.77-0.88). Those in the Injected group demonstrated more task performance errors than the Non-injected group, with significant differences in Accuracy (z = -2.1 to -2.4, rspb = 0.37-0.45), Repetition (z = -2.5 to -2.1, rspb = 0.43) and Timing (z = -2.0, rspb = 0.37). CONCLUSIONS: This study demonstrated good construct and concurrent validity of the ULPA-TPM.

Computerised pinch dynamometry in the assessment of adult hand spasticity.

BACKGROUND/AIM: The hand engages with the environment through the grasp, stabilisation, manipulation and release of objects during everyday tasks, activities and routines. Upper motor neuron syndrome following acquired brain injury may negatively impact hand function, reducing strength, range of motion and motor control. It is important for clinicians to reliably measure such impacts, particularly for the impact of intervention and to monitor change in performance over time. Therefore, the aim of this study was to investigate the test-retest reliability and construct validity of Dynamic Computerised pinch Dynamometry for measuring fine hand motor performance following acquired brain injury. METHODS: The Dynamic Computerised pinch Dynamometry protocol was completed by 36 community dwelling adults and 27 healthy adults using a simulated pinch and release task in lateral and pincer grip positions. Measurements were conducted over two testing occasions approximately five weeks apart. Dynamic Computerised pinch Dynamometry output was evaluated to determine the test-retest reliability and construct validity of the measure. RESULTS: Test-retest reliability scores using Kendall coefficient of concordance ranged from W = 0.61-0.94. Dynamic Computerised pinch Dynamometry discriminated between participants with and without acquired brain injury (z = 4.97-6.50, P < 0.05) and between the affected and non-affected hand of participants with acquired brain injury (z = 3.37-5.22, P < 0.001). CONCLUSIONS: Dynamic Computerised pinch Dynamometry in both lateral and pincer positions had fair to excellent test-retest reliability, and had good construct validity for discrimination between participants with and without acquired brain injury as well as between the affected and non-affected hand of participants with acquired brain injury.

Markers of good performance in mammography depend on number of annual readings.

PURPOSE: To explore relationships between reader performance and reader characteristics in mammography for specific radiologist groupings on the basis of annual number of readings. MATERIALS AND METHODS: The institutional review board approved the study and waived the need for patient consent to use all images. Readers gave informed consent. One hundred sixteen radiologists independently reviewed 60 mammographic cases: 20 cases with cancer and 40 cases with normal findings. Readers located any visualized cancer, and levels of confidence were scored from 1 to 5. A jackknifing free response operating characteristic (JAFROC) method was used, and figures of merit along with sensitivity and specificity were correlated with reader characteristics by using Spearman techniques and standard multiple regressions. RESULTS: Reader performance was positively correlated with number of years since qualification as a radiologist (P ≤ .01), number of years reading mammograms (P ≤ .03), and number of readings per year (P ≤ .0001). The number of years since qualification as a radiologist (P ≤ .004) and number of years of reading mammograms (P ≤ .002) were negatively related to JAFROC values for radiologists with annual volumes of less than 1000 mammographic readings. For individuals with more than 5000 mammographic readings per year, JAFROC values were positively related to the number of years that the reader was qualified as a radiologist (P ≤ .01), number of years of reading mammograms (P ≤ .002), and number of hours per week of reading mammograms (P ≤ .003). Number of mammographic readings per year was positively related with JAFROC scores for readers with an annual volume between 1000 and 5000 readings (P ≤ .03). Differences in JAFROC scores appear to be more related to specificity than location sensitivity, with the former demonstrating significant relationships with four of the five characteristics analyzed, whereas no relationships were shown for the latter. CONCLUSION: Radiologists' determinants of performance are associated with annual reading volumes. Ability to recognize normal images is a discriminating factor in individuals with a high volume of mammographic readings.

The Reliability of Expert Diagnosis of Childhood Apraxia of Speech.

PURPOSE: The current standard for clinical diagnosis of childhood apraxia of speech (CAS) is expert clinician judgment. The psychometric properties of this standard are not well understood; however, they are important for improving clinical diagnosis. The purpose of this study is to determine the extent to which experts agree on the clinical diagnosis of CAS using two cohorts of children with mixed speech sound disorders (SSDs). METHOD: Speech samples of children with SSDs were obtained from previous and ongoing research from video recordings of children aged 3-8 years (n = 36) and audio recordings of children aged 8-17 years (n = 56). A total of 23 expert, English-speaking clinicians were recruited internationally. Three of these experts rated each speech sample to provide a description of the observed features and a diagnosis. Intrarater reliability was acceptable at 85% agreement. RESULTS: Interrater reliability on the presence or absence of CAS among experts was poor both as a categorical diagnosis (κ = .187, 95% confidence interval [CI] [0.089, 0.286]) and on a continuous "likelihood of CAS" scale (0-100; intraclass correlation = .183, 95% CI [.037, .347]). Reliability was similar across the video-recorded and audio-only samples. There was greater agreement on other diagnoses (such as articulation disorder) than on the diagnosis of CAS, although these too did not meet the predetermined standard. Likelihood of CAS was greater in children who presented with more American Speech-Language-Hearing Association CAS consensus features. CONCLUSIONS: Different expert raters had different thresholds for applying the diagnosis of CAS. If expert clinician judgment is to be used for diagnosis of CAS or other SSDs, further standardization and calibration is needed to increase interrater reliability. Diagnosis may require operationalized checklists or reliable measures that operate along a diagnostic continuum. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.23949105.

Translation, cross-cultural adaptation and reliability testing of the barriers to physical activity and Disability survey (B-PADS) for Thai people with Spinal Cord injury.

PURPOSE: The objectives of this study were to translate and culturally adapt the Barriers to Physical Activity and Disability Survey (B-PADS) into the Thai context and to assess its inter- and intra-rater reliability. METHODS: Participants were experts in the field of spinal cord injury (SCI, n = 3), linguistic experts (n = 7), Thai-English bilingual speakers (n = 40), Thai physiotherapists (n = 8), and people with SCI living in Thailand (n = 43). The translation and cross-cultural adaptation of the B-PADS into the Thai context was conducted using a 6-step process; forward translation, reconciliation of the two translated versions, backward-translation, harmonisation, backward-translation of the revised version, and cognitive debriefing with potential users and target population. The reliability of the translated tool was assessed using Cohen's kappa (K) and McNemar's test. RESULTS: The inter-rater reliability test demonstrated high-range agreement for the majority of statements (27 out of 38; Cohen's K > 0.60) in the Thai-B-PADS final version. The intra-rater reliability test revealed that the majority of the statements (29 out of 38) in the Thai-B-PADS final version obtained substantial (Cohen's K = 0.61-0.80, p < 0.05) to perfect agreement (Cohen's K = 1.0, p < 0.05). McNemar's test displayed no statistically significant differences amongst assessors (p > 0.05) for nearly all statements. CONCLUSION: The Thai-B-PADS final version was successfully translated and culturally adapted for people with SCI.

Multi-stakeholders, including academic experts, researchers, translators, clinicians, target users and clients, should be involved in developing health-related questionnaires' translation and cultural adaptation processes.The Thai version of Barriers to Physical Activity and Disability Survey (B-PADS) possessed high levels of inter- and intra-rater reliability to assess barriers related to undertaking physical activities or exercise in people with spinal cord injury.Interactional biases and perceived social status effects may not be avoided when deploying a face-to-face interview of health-related questionnaires in a culture where social hierarchy is present within the language.The translation and adaptation processes used in this study were thorough, systematic and comprehensive, providing a culturally competent exemplar for translating health-related questionnaires between languages of different root origins.

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.

Multiple sclerosis (MS) is an autoimmune disease with a genetic component, caused at least in part by aberrant lymphocyte activity. The whole blood mRNA transcriptome was measured for 99 untreated MS patients: 43 primary progressive MS, 20 secondary progressive MS, 36 relapsing remitting MS and 45 age-matched healthy controls. The ANZgene Multiple Sclerosis Genetics Consortium genotyped more than 300 000 SNPs for 115 of these samples. Transcription from genes on translational regulation, oxidative phosphorylation, immune synapse and antigen presentation pathways was markedly increased in all forms of MS. Expression of genes tagging T cells was also upregulated (P < 10(-12)) in MS. A T cell gene signature predicts disease state with a concordance index of 0.79 with age and gender as co-variables, but the signature is not associated with clinical course or disability. The ANZgene genome wide association screen identified two novel regions with genome wide significance: one encoding the T cell co-stimulatory molecule, CD40; the other a region on chromosome 12q13-14. The CD40 haplotype associated with increased MS susceptibility has decreased gene expression in MS (P < 0.0007). The second MS susceptibility region includes 17 genes on 12q13-14 in tight linkage disequilibrium. Of these, only 13 are expressed in leukocytes, and of these the expression of one, FAM119B, is much lower in the susceptibility haplotype (P < 10(-14)). Overall, these data indicate dysregulation of T cells can be detected in the whole blood of untreated MS patients, and supports targeting of activated T cells in therapy for all forms of MS.

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

OBJECTIVE: To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci. METHODS: We synthesized 7 MS GWAS. Each data set was imputed using HapMap phase II, and a per single nucleotide polymorphism (SNP) meta-analysis was performed across the 7 data sets. We explored RNA expression data using a quantitative trait analysis in peripheral blood mononuclear cells (PBMCs) of 228 subjects with demyelinating disease. RESULTS: We meta-analyzed 2,529,394 unique SNPs in 5,545 cases and 12,153 controls. We identified 3 novel susceptibility alleles: rs170934(T) at 3p24.1 (odds ratio [OR], 1.17; p = 1.6 × 10(-8)) near EOMES, rs2150702(G) in the second intron of MLANA on chromosome 9p24.1 (OR, 1.16; p = 3.3 × 10(-8)), and rs6718520(A) in an intergenic region on chromosome 2p21, with THADA as the nearest flanking gene (OR, 1.17; p = 3.4 × 10(-8)). The 3 new loci do not have a strong cis effect on RNA expression in PBMCs. Ten other susceptibility loci had a suggestive p < 1 × 10(-6) , some of these loci have evidence of association in other inflammatory diseases (ie, IL12B, TAGAP, PLEK, and ZMIZ1). INTERPRETATION: We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene discovery efforts and highlights 3 novel MS susceptibility loci. These and additional loci with suggestive evidence of association are excellent candidates for further investigations to refine and validate their role in the genetic architecture of MS.

Clinical assessment of hand motor performance after acquired brain injury with dynamic computerized hand dynamometry: construct, concurrent, and predictive validity.

OBJECTIVE: To assess the construct, concurrent, and predictive validity of dynamic computerized hand dynamometry. DESIGN: Prospective correlational study between dynamometry and functional upper limb performance. SETTING: Hospital outpatient spasticity clinics. PARTICIPANTS: Adults with upper motor neuron syndrome affecting the upper limb after acquired brain injury (ABI) (n=38; median age, 50 y; range, 18-81 y) and healthy adult control participants (n=27; median age, 37 y; range, 22-62 y). INTERVENTION: Not applicable. MAIN OUTCOME MEASURES: Dynamic computerized dynamometry elements of hand performance (isometric force, force velocity, isometric grip work, contraction and relaxation duration) and the Action Research Arm Test. RESULTS: Motor elements of hand performance objectively measured by the dynamic computerized dynamometry protocol achieved moderate to good validity when correlated with standardized measures of functional hand performance. Dynamic computerized dynamometry identified clear differences in hand performance between participants with and without ABI. Within the ABI group, dynamic computerized hand dynamometry achieved fair to moderate predictive validity with regards to whether a participant would be referred for botulinum toxin A injections. CONCLUSIONS: This study provides support for the construct, concurrent, and predictive validity of the dynamic computerized dynamometry protocol.