WHO Disability Assessment Research Articles

HEART Rate Variability Biofeedback for LOng COVID Dysautonomia (HEARTLOC): Results of a Feasibility Study.

Post-COVID-19 syndrome, or Long Covid (LC) refers to symptoms persisting 12 weeks after the COVID-19 infection. LC comprises a wide range of dysautonomia symptoms, including fatigue, breathlessness, palpitations, dizziness, pain and brain fog. This study tested the feasibility and estimated the efficacy, of a Heart Rate Variability Biofeedback (HRV-B) programme via a standardised slow diaphragmatic breathing technique in individuals with LC. LC patients underwent a 4-week HRV-B intervention for 10 minutes twice daily for 4 weeks using the Polar H10 ECG (Electrocardiogram) chest strap and Elite HRV phone application. Outcome measures C19-YRSm (Yorkshire Rehabilitation Scale modified), Composite Autonomic Symptom Score (COMPASS-31), WHO Disability Assessment Schedule (WHODAS), EQ5D-5L (EuroQol 5 Dimensions) and Root Mean Square of Successive Differences between heartbeats (RMSSD) using a Fitbit device were recorded before and after the intervention. The study was pre-registered at clinicaltrials.gov NCT05228665. A total of 13 participants (54% female, 46% male) completed the study with high levels of independent use of technology, data completeness and intervention adherence. There was a statistically significant improvement in C19YRS-m (P = .001), COMPASS-31 (P = .007), RMSSD (P = .047), WHODAS (P = .02) and EQ5D Global Health Score (P = .009). Qualitative feedback suggested participants could use it independently, were satisfied with the intervention and reported beneficial effects from the intervention. HRV-B using diaphragmatic breathing is a feasible intervention for LC. The small sample size limits generalisability. HRV-B in LC warrants further exploration in a larger randomised controlled study.

Integrated Psychological Rehabilitation Program on Neurocognition, Social Skill, and Functional Disability in Persons with Schizophrenia: A Pilot Study

Abstract Introduction: Schizophrenia, a chronic and severe mental disorder, is characterized by disruptions in thinking, perception, emotions, and behavior. These disturbances are accompanied by significant cognitive and social skill deficits that affect their functional outcomes encompassing employment, independent living, social interactions, and community integration. To address these issues, the development of psychological rehabilitation programs addressing cognitive and social skill deficits becomes pivotal in schizophrenia care. Objective: The study was designed to develop modules for the integrated psychological rehabilitation program (IPRP) that focus on neurocognitive functions, social skills, and functional disability and evaluate its feasibility among schizophrenia patients. Materials and Methods: The present study made use of a pre- and posttest research design and used purposive sampling to recruit patients diagnosed with schizophrenia. Twelve participants completed the 1-month IPRP along with the pre- and posttest evaluations encompassing cognitive functions, social skills, and disability using the Bender Gestalt Test, Social Skills Assessment Screening Scale, NIMHANS neuropsychology battery, Postgraduate Institute Memory Scale, and WHO Disability Assessment Schedule II. IPRP consisted of psychoeducation, cognitive retraining, and social skills training. Results: The majority of the participants were college educated (91.7%), unemployed (83.3%), single (75%), males (75%), residing in urban areas (66.7%), and living in joint family (66.7%). Wilcoxon signed-rank test was used to compare pre- and posttest means. The results found significant improvements in various cognitive domains, including visuospatial ability (Z = 2.43, P = 0.015), remote (Z = 2.12, P = 0.034) and immediate memory (Z = 2.04, P = 0.042), verbal retention for similar (Z = 2.26, P = 0.024) and dissimilar pairs (Z = 2.82, P = 0.005), recognition (Z = 2.14, P = 0.032), total memory (Z = 3.06, P = 0.002), mental speed in terms of time taken (Z = 2.98, P = 0.003) and errors made (Z = 2.26, P = 0.024) on the digit symbol substitution test, comprehension (Z = 2.84, P = 0.004), social skills (Z = 2.807, P = 0.005), and overall disability (Z = 2.94, P = 0.003). Conclusion: The findings from the study underscore the potential of the IPRP in mitigating cognitive deficits, enhancing social skills, and reducing overall disability among schizophrenia patients.

Testing How Reliable and Accurate the Persian Version of the WHO Disability Assessment Schedule II is for People With Mental Health Issues

Testing How Reliable and Accurate the Persian Version of the WHO Disability Assessment Schedule II is for People With Mental Health Issues

Factors Influencing Social and Community Participation of People with Spinal Cord Injury in Karnataka, India.

Social and community participation are major indicators to assess the adequacy of treatment and rehabilitation in patients with spinal cord injury (SCI). This study examined the relationship between functional independence, level of disability, and social and community participation among people with SCI in India. In this cross sectional study, 110 persons with SCI, aged 18 years and above participated in a community setting, in Karnataka, India. Spinal Cord Independence Measure Version III-self-reporting (SCIM III-SR), Craig Handicap Assessment and Reporting Technique (CHART), and WHO Disability Assessment Schedule 2.0 (WHODAS) were the clinical outcome measures. Spearman's correlation and stepwise multiple linear regression were done to determine association and identify the factors determining the community participation of people with SCI. CHART physical independence had a positive correlation with SCIM self-care (R = 0.446) and SCIM mobility (r = 0.434). CHART cognitive independence (R = -0.38) and CHART mobility (R = -0.396) had a weak correlation with WHODAS. SCIM self-care and SCIM mobility (R2 = 0.34) were determinants of CHART cognitive independence. SCIM respiratory and sphincter management and SCIM self-care (R2 = 0.327) were determinants of CHART mobility. Self-care and mobility of people with SCI determine their ability to successfully reintegrate into the community, warranting a comprehensive community rehabilitation program.

Protocol for a comparative cross-sectional study on characterisation of auditory impairment in sickle cell disease and sickle cell trait and its impact on health-related quality of life in Nigeria

IntroductionSickle cell disease (SCD) and sickle cell traits (SCT) are genetically inherited red blood cell disorders common among people of African descent. Nigeria has a high prevalence of SCD, with...

INCARCERATION HISTORY AND ITS ASSOCIATION WITH COGNITION AND ISOLATION AMONG OLDER BLACK AMERICANS

Abstract Incarceration is a risk factor for adverse health and disproportionately affects Black Americans. Little is known about its implications for later life functioning. This study investigated the associations between incarceration and social isolation and cognition among older Black Americans. Sample included African American and Caribbean Black respondents aged 50+ from the National Survey of American Life, 2001-2003 (N=1,561; 12.6% with incarceration history). Lifetime incarceration history (yes/no) was defined as having been in jail, prison, or juvenile detention. Continuous cognitive score was measured using the WHO Disability Assessment Schedule-II, with higher scores indicating higher cognitive difficulty. Binary isolation was assessed by combining two indicators of frequency of contact and feelings of closeness, for friends and family, using a 4-point Likert scale. Multivariable weighted linear and logistic regressions were fit for the associations between cognitive score and social isolation, respectively. All models adjusted for age, sex, ethnicity, poverty, education, marital status, and drug use; model for cognition further adjusted for mental health and traumatic experiences and models for isolation further adjusted for discrimination. Moderation by nativity (U.S. versus foreign born) was assessed using interaction. History of incarceration was associated with worse cognition (β = 0.09, 95% CI: -1.48, 1.66) and higher odds of social isolation for frequency (AOR: 1.48 95% CI: 0.89, 2.46) and closeness (AOR: 1.05, 95% CI: 0.52, 2.15). Results not moderated by nativity. Findings suggest contexts surrounding incarceration, like social supports, may be important engagement points for successful transitions and promotion of psychological and cognitive health in this population.

Relationship of life expectancy with quality of life and health-related hope among Japanese patients receiving home medical care: The Zaitaku Evaluative Initiatives and Outcome Study

Spiritual care for patients’ quality of life (QOL) and hope should be included in home medical care for patients with limited life expectancy. This study aimed to analyze the associations between estimated life expectancy, QOL, and hope among patients receiving home medical care in Japan. This multicenter cross-sectional study involved 29 home medical care facilities in Japan. Patients were categorized by estimated life expectancy, as assessed by home medical care physicians. The outcomes were QOL measured via the Quality-of-Life Scale for Elderly Patients Receiving Professional Home Care (QOL-HC: higher score indicates better QOL), the domain scores of health-related hope (“health,” “role and connectedness,” and “something to live for”; higher scores indicate higher levels of hope), and life functioning measured using the WHO Disability Assessment Schedule 2.0 (WHODAS 2.0; higher score indicates worse functioning and disability). QOL-HC scores were significantly higher in patients with shorter life expectancy (< 6 m vs. ≥ 1 y, adjusted mean differences: 0.7 points [95%CI 0.1 to 1.3]). Regarding health-related hope, “something to live for” scores were associated with shorter life expectancy (< 6 m vs. ≥ 1 y, -17.7 points [-34.2 to -1.2]), whereas “role and connectedness” scores did not change remarkably with shorter life expectancy (< 6 m vs. ≥ 1 y, -3.3 points [-16.4 to 9.8]). Furthermore, shorter life expectancy was associated with higher WHODAS 2.0 scores (< 6 m vs. ≥ 1 y, 19.6 points [4.3 to 34.8]). Home medical care physicians who engage in spiritual care should facilitate thoughtful dialogue with their patients by recognizing declines in life functions and hope for fulfilment, which are associated with short life expectancy.

Postoperative myocardial injury phenotypes and self-reported disability in patients undergoing noncardiac surgery: a multicentre observational study

BackgroundPostoperative myocardial injury (PMI) comprises a spectrum of mechanisms resulting in troponin release. The impact of different PMI phenotypes on postoperative disability remains unknown. MethodsThis was a multicentre prospective cohort study including patients aged ≥50 yr undergoing elective major noncardiac surgery. Patients were stratified in five groups based on the occurrence of PMI and clinical information on postoperative adverse events: PMI classified as myocardial infarction (MI; according to fourth definition), PMI plus adverse event other than MI, clinically silent PMI (PMI without adverse events), adverse events without PMI, and neither PMI nor an adverse event (reference). The primary endpoint was 6-month self-reported disability (assessed by WHO Disability Assessment Schedule 2.0 [WHODAS]). Disability-free survival was defined as WHODAS ≤16%. ResultsWe included 888 patients of mean age 69 (range 53–91) yr, of which 356 (40%) were women; 151 (17%) patients experienced PMI, and 625 (71%) experienced 6-month disability-free survival. Patients with PMI, regardless of its phenotype, had higher preoperative disability scores than patients without PMI (difference in WHODAS; β: 3.3, 95% confidence interval [CI]: 0.5–6.2), but scores remained stable after surgery (β: 1.2, 95% CI: –3.2–5.6). Before surgery, patients with MI (n=36, 4%) were more disabled compared with patients without PMI and no adverse events (β: 5.5, 95% CI: 0.3–10.8). At 6 months, patients with MI and patients without PMI but with adverse events worsened in disability score (β: 11.2, 95% CI: 2.3–20.2; β: 8.1, 95% CI: 3.0–13.2, respectively). Patients with clinically silent PMI did not change in disability score at 6 months (β: 1.39, 95% CI: –4.50–7.29, P=0.642). ConclusionsAlthough patients with postoperative myocardial injury had higher preoperative self-reported disability, disability scores did not change at 6 months after surgery. However, patients experiencing myocardial infarction worsened in disability score after surgery.

A study of disability and socio-economic impact of mental morbidities from the state of Madhya Pradesh, India.

Disability associated with mental illness has a disproportionate impact on the work, social, and family responsibilities of an individual toward society. The evidence for disability in mental illnesses would help the clinician, caregivers, policymakers, and various stakeholders to come up with sustainable solutions not only to help fill the existing gaps in care but also to develop new avenues as per the specific needs of the population of Madhya Pradesh (MP). To estimate the burden of disability related to mental illnesses in the state of MP. A multi-site cross-sectional study was conducted in 2015-16 as part of National Mental Health Survey among adults above 18 years of age. Samples were selected using multi-stage, stratified, random cluster sampling based on probability proportionate to size. Six tehsils with one urban metro out of four districts from a total of 50 districts were selected in the state of MP. The Sheehan Disability Scale and socio-economic impact of illness (from selected questions from WHO-Disability Assessment Schedule-2.0) were used to assess mental morbidity and the subjective reporting of disability. The weighted prevalence of disability (n = 1011) was found as 10.2%, 13.1%, and 13.9%, respectively, in work/school, social life, and family/home domains. The weighted prevalence of moderate to extreme disability in the same domains was, respectively, 5.1%, 6.7%, and 7.3%. The presence of common mental disorders (CMDs) increases the odds of self-reported disability in work [odds ratio (OR) 2.48, 95% CI 1.35 to 4.59], social life (OR 2.74, 95% CI 1.50 to 5.07), and family domains (OR 3.03, 95% CI1.62 to 5.74). When combined with common mental disorders, tobacco use disorder further escalates the odds of self-reported disability in all three domains [OR 7.10, confidence interval (CI) 3.15 to 16.37; 4.93, CI 2.19 to 11.28; and 7.10, CI 2.78 to 19.25]. Currently, non-working persons had a higher disability in social life and family life domains (P = 0.003 and P = 0.021), respectively. We report a substantial magnitude of disability in social, work, and family life domains. Participants having CMDs, female gender, and those non-working had more disabilities and would require targeted interventions.

Maladaptive facet trait profiles and psychopathology: a person-centered assessment approach

Person-centered approaches in personality allow greater understanding of how different subpopulations with specific personality profiles are linked with relevant outcomes. Studies under the Five Factor Model agree on the observation of a Resilient, an Undercontrolled and an Overcontrolled profile. However, studies using maladaptive traits are much more limited. The present research identify personality profiles based on the 25 maladaptative facet and examined the relationships with personality dysfunctioning, internalizing and externalizing symptoms.A mixed sample composed of community adults (n = 742) and patients (n = 312) completed the Personality Inventory for DSM-5 Short Form, the Inventory of Depression and Anxiety Symptoms-II, Externalizing Spectrum Inventory–Brief From, the 12 items Spanish version of the WHO Disability Assessment Schedule II and Level of Personality Functioning Scale-Brief Form 2.0. Latent profile analysis was performed on PID-5-SF score. The scores on internalizing, externalizing and functioning were compared across the profiles.Four profiles emerged: Resilient, Undercontrolled, Overcontrolled, and Ordinary type. The Overcontrolled and Undercontrolled types showed higher scores on pathology scales. While the Overcontrolled profile appeared more related to internalizing symptoms and impairment in self-functioning, the Undercontrolled profile was more linked to higher scores on externalizing symptoms and interpersonal dysfunctioning.

Examining the health and functioning status of medical laboratory professionals in Ontario, Canada: an exploratory study during the COVID-19 pandemic

ObjectivesThis study aims to explore the overall and specific aspects of the functioning of medical laboratory professionals (MLPs) in Ontario, Canada during the COVID-19 pandemic.DesignA cross-sectional analysis where a questionnaire...

52 Internalizing Psychopathology is Highly Related to Subjective Cognitive Impairment and the Discrepancy Between Objective and Subjective Cognitive Impairment: A Preliminary Cross-Sectional Study.

Objective:Eliciting perceived cognitive complaints is a routine part of a clinical neuropsychological evaluation, presumably because complaints are informative of underlying pathology. However, there is no strong empirical support that subjective cognitive impairment (SCI) is actually related to objective cognitive impairment as measured by neurocognitive tests. Instead, internalizing psychopathology is thought to predominately influence the endorsement of SCI. Specifically, individuals with greater symptoms of depression and anxiety, when accounting for comorbidities, have a higher disposition to overestimate their degree of cognitive impairment as compared to objective testing. Yet, there are few existing studies that have determined which factors influence both SCI and the discrepancy between subjective and objective cognitive impairment in general outpatient populations. The current study examined the relationship between subjective and objective cognitive impairment in a clinically diverse sample of outpatients. We additionally explored the associations between SCI and relevant intrapersonal factors including internalizing psychopathology, number of medical comorbidities, and demographics. Finally, we quantified the degree of discrepancy between subjective and objective impairment and examined this discrepancy in relation to the intrapersonal factors.Participants and Methods:The sample comprised 142 adult women and men (age range 18–79 years) seen in an outpatient neuropsychology clinic for a diverse range of referral questions. Scores on the cognition portion of the WHO Disability Assessment Schedule (WHODAS 2.0) were used to index SCI. A composite score from 14 measures across various domains of cognitive functioning served as an objective measure of cognitive functioning. Internalizing psychopathology was measured via a standardized composite of scores from screening measures of anxiety and depression. Medical comorbidities were indexed by the number of different ICD diagnostic categories documented in patients' medical records. Demographics included age, sex, race, and years of formal education. Objective-subjective discrepancy scores were computed by saving standardized residuals from a linear regression of neurocognitive test performance on the WHODAS 2.0 scores.Results:A hierarchical linear regression revealed that objective cognitive impairment was not significantly related to SCI (p > .05), explaining less than 2% of the variance in SCI ratings. Likewise, participants' demographics (age, sex, education, race) and number of comorbidities were not significantly related to their SCI ratings, explaining about 6% of the variance. However, participants' level of internalizing psychopathology was significantly associated with SCI (F[10, 131] = 4.99, p < .001), and explained approximately 20% of the variance in SCI ratings. Similarly, the degree of discrepancy between subjective and objective cognitive impairment was primarily influenced by internalizing psychopathology (F[9, 132] = 5.20, p < .001, R2 = 21%) and largely unrelated to demographics and number of comorbidities, which explained about 6% of the variance.Conclusions:These findings are consistent with prior research suggesting that SCI may be more indicative of the extent of internalizing psychopathology rather than actual cognitive impairment. Taken together, these results illuminate potential treatment and diagnostic implications associated with assessing perceived cognitive complaints during a neuropsychological evaluation.

Self-report versus performance based executive functioning in people with psychotic disorders

BackgroundAlthough executive functioning is often measured using performance-based measures, these measures have their limits, and self-report measures may provide added value. Especially since these two types of measures often do not correlate with one another. It thus has been proposed they might measure different aspects of the same construct. To explore the differences between a performance-based measure of executive functioning and a self-report measure, we examined their associations in patients with a psychotic disorder with the following: other neurocognitive measures; psychotic symptoms; anxiety and depression symptoms, and daily-life outcome measures. MethodThis cross-sectional study consisted of baseline measures collected as part of a cohort study of people with a psychotic disorder (the UP'S study; n = 301). The Behavioral Rating Inventory of Executive Functioning Adult version (BRIEF-A) was used to assess self-rated executive functioning, and the Tower of London (TOL) to assess performance-based executive functioning. Generalized linear models (GLM) were used with the appropriate distribution and link function to study the associations between TOL and BRIEF-A, and the other variables, including the Brief Assessment of Cognition in Schizophrenia (BACS), the Positive and Negative Symptoms Scale-Remission (PANSS-R), the General Anxiety Disorder – 7 (GAD-7), the Patient Health Questionnaire – 9 (PHQ-9) and the WHO Disability Assessment Schedule 2.0 (WHODAS 2.0). Model selection was based on the Wald test. ResultsThe TOL was associated with other neurocognitive measures, such as verbal list learning (β = 0.24), digit sequencing (β = 0.35); token motor task (β = 0.20); verbal fluency (β = 0.24); symbol coding (β = 0.43); and a screener for intelligence (β = 2.02). It was not associated with PANNS-R or WHO-DAS scores. In contrast, the BRIEF-A was associated not with other neurocognitive measures, but with the PANSS-R (β = 0.32); PHQ-9 (β = 0.52); and GAD-7 (β = 0.55); and with all the WHODAS domains: cognition domain (β = 0.54), mobility domain (β = 0.30) and selfcare domain (β = 0.22). ConclusionPerformance-based and self-report measures of executive functioning measure different aspects of executive functioning. Both have different associations with neurocognition, symptomatology and daily functioning measures. The difference between the two instruments is probably due to differences in the underlying construct assessed.

A global core outcome measurement set for snakebite clinical trials

Snakebite clinical trials have often used heterogeneous outcome measures and there is an urgent need for standardisation. A globally representative group of key stakeholders came together to reach consensus on a globally relevant set of core outcome measurements. Outcome domains and outcome measurement instruments were identified through searching the literature and a systematic review of snakebite clinical trials. Outcome domains were shortlisted by use of a questionnaire and consensus was reached among stakeholders and the patient group through facilitated discussions and voting. Five universal core outcome measures should be included in all future snakebite clinical trials: mortality, WHO disability assessment scale, patient-specific functional scale, acute allergic reaction by Brown criteria, and serum sickness by formal criteria. Additional syndrome-specific core outcome measures should be used depending on the biting species. This core outcome measurement set provides global standardisation, supports the priorities of patients and clinicians, enables meta-analysis, and is appropriate for use in low-income and middle-income settings.

Peri-Operative Wearables in Elder Recover after Surgery (POWERS) study: a protocol for a multicentre, prospective cohort study to evaluate perioperative activity with postoperative disability in older adults after non-cardiac surgery

IntroductionThe ageing population has led to an increasing proportion of surgical patients with greater frailty and comorbidity. Complications and mortality within 30 days of a surgical procedure are often used...

Effect of a Novel Digital Leakage Notification System (Heylo) for Ostomy Care on Quality of Life and Burden of Living With an Intestinal Ostomy: The ASSISTER Trial, A Randomized Controlled Cross-Over Trial

ObjectiveTo investigate the effect of a novel digital leakage notification system (Heylo) on quality of life (QoL) and burden of living with an intestinal ostomy. Patients and MethodsA randomized, controlled, open-label, cross-over trial was conducted in Germany with people having intestinal ostomies, who were cared for by 13 ostomy care specialists. Participants with fecal leakage problems were randomized by a centralized system to either Heylo + Standard of Care (SoC) or SoC alone for 8 weeks, whereafter participants crossed over to the opposite treatment for an additional 8 weeks. Primary and secondary end points were: Emotional impact domain score of the Ostomy Leak Impact tool and Participation domain score of the WHO Disability Assessment Schedule 2.0, respectively. Primary comparisons between Heylo and SoC were evaluated using linear mixed models, taking time and study period into account. The trial is registered with ClinicalTrials.gov, NCT05200416. ResultsA total of 144 participants were allocated to a treatment sequence after giving informed consent (safety population). Analyses included randomized participants who had been exposed to at least 1 product and with information on at least 1 end point (intention-to-treat population, n=139). Both the Emotional impact and Participation domain scores improved significantly after 8 weeks use of Heylo compared with SoC (LS mean difference of 11.4; 95% CI, 7.8-15.0; P<.001 and −4.2; 95% CI, −6.7 to −1.6; P=.001, respectively). Few adverse events related to Heylo were reported (n=5, 3.5%; all related to skin irritation). ConclusionUse of Heylo reported positive effects on quality of life and the overall burden of living with an intestinal ostomy.

Symptoms and Engagement in Anti-social Behavior 10 Years After Mild Traumatic Brain Injury Within a Community Civilian Sample: A Prospective Cohort Study With Age-Sex Matched Control Group

ObjectiveTo determine if there are longer-term effects on symptoms, health status, mood, and behavior 10 years after a mild traumatic brain injury (mTBI). DesignProspective cohort study. SettingCommunity-based, civilian sample. ParticipantsAdults aged ≥16 years at follow-up who experienced an mTBI 10 years ago, and an age and sex-matched non-injured control group. InterventionsNot applicable. Main Outcome MeasuresmTBI cases and controls were asked to complete self-report assessments of functioning (WHO Disability Assessment Schedule Version 2), symptoms (Rivermead Post-Concussion Symptom Questionnaire), health status (100-point scale), alcohol (Alcohol Use Disorders Identification Test) and substance use (Alcohol, Smoking and Substance Involvement Screening Test), and whether they had engaged in any anti-social behaviors over the past 12 months. ResultsData were analyzed for 368 participants (184 mTBI cases and 184 age-sex matched controls). Just over a third of mTBI cases (64, 34.8%) reported that they were still affected by their index mTBI 10 years later. After adjusting for education and ethnicity, the mTBI group had statistically higher overall symptom burden (F=22.32, P<.001, ηp2=0.07) compared with controls. This difference remained after excluding those who experienced a recurrent TBI. The mTBI group were more than 3 times as likely to have engaged in anti-social behavior during the previous 12 months (F=5.89, P=.02). There were no group differences in health status, functioning, or problematic alcohol or substance use 10 years post-injury. ConclusionsThis study provides evidence of potential longer-term associations between mTBI, post-concussion symptoms, and anti-social behavior which warrants further evaluation. Future research should also examine if longer-term effects may be preventable with access to early rehabilitation post-injury.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

BackgroundThe European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry.MethodsFollowing the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ).ResultsOf 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted.ConclusionsThe EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain.

Perceived cognitive impairment is related to internalizing psychopathology but unrelated to objective cognitive performance among nongeriatric adults presenting for outpatient neuropsychological evaluation

Objective: This study investigated the relationship between perceived cognitive impairment, objective cognitive performance, and intrapersonal variables thought to influence ratings of perceived cognitive impairment. Method : Study sample comprised 194 nongeriatric adults who were seen in a general outpatient neuropsychology clinic for a variety of referral questions. The cognition subscale score from the WHO Disability Assessment Schedule served as the measure of perceived cognitive impairment. Objective cognitive performance was indexed via a composite score derived from a comprehensive neuropsychological battery. Internalizing psychopathology was indexed via a composite score derived from anxiety and depression measures. Medical and neuropsychiatric comorbidities were indexed by the number of different ICD diagnostic categories documented in medical records. Demographics included age, sex, race, and years of education. Results: Objective cognitive performance was unrelated to subjective concerns, explaining <1% of the variance in perceived cognitive impairment ratings. Conversely, internalizing psychopathology was significantly predictive, explaining nearly one-third of the variance in perceived cognitive impairment ratings, even after accounting for test performance, demographics, and number of comorbidities. Internalizing psychopathology was also highly associated with a greater discrepancy between scores on perceived and objective cognitive measures among participants with greater cognitive concerns. Clinically significant somatic symptoms uniquely contributed to the explained variance in perceived cognitive impairment (by ∼13%) when analyzed in a model with internalizing symptoms. Conclusions: These findings suggest that perceived cognitive impairment may be more indicative of the extent of internalizing psychopathology and somatic concerns than cognitive ability.

The perception of disability in cerebral palsy: a cross-sectional study using the WHODAS 2.0

ABSTRACT This observational study aims to describe the level of perceived disability in Cerebral Palsy (CP). We described the perception of adults by using the interviewer-administered version of the WHO disability assessment schedule (WHODAS 2.0). In case of intellectual disability (ID), the proxy-administered version was used, and a caregiver was asked to report the difficulties experienced by the patient; 199 patients were enrolled. The level of perceived disability was higher when referred to patients with ID (proxy report) than when referred to patients without ID (p < .001). For all patients, the level of perceived disability varied depending on the severity and the localization of motor impairment (both p < .001). No differences were observed based on the type of motor impairment. The perceived disability was correlated with age only for patients with no ID (p < .05). The WHODAS 2.0 may be a useful tool to explore the perception of disability in CP.