Search

Hypertension is one critical health issue causing cardiovascular diseases. There has been a common concern among health researchers that the prevalence of hypertension, known as high blood pressure, has been more frequently observed among people with intellectual disabilities, compared to the general population. Thus, this study aims to identify which health-related physical fitness and body composition factors are significantly related to both systolic and diastolic blood pressures among people with intellectual disabilities. The data from 2180 people with intellectual disability who conducted the physical fitness tests from 2019 to 2020 were used for this study. Four physical fitness tests (i.e., 3-min step, grip strength, sit-up, and sit and reach) and two body compositions (i.e., body mass index and body fat %) used as predictors, and two blood pressures (i.e., systolic blood pressure and diastolic blood pressure) were used as outcome variables. A regression analysis was performed to examine the proposed associations. The regression test revealed that 3-min step, body mass index, and body fat % were significantly associated with both systolic blood pressure and diastolic body pressure. This research contributes to our understanding of the roles of body compositions and aerobic endurance in preventing hypertension among people with intellectual disability. [ABSTRACT FROM AUTHOR]

Clinical tests for the assessment of postural balance in people with intellectual disability have been the most commonly used single or multi-item tests, but some tests have been developed, such as the BESTest. The purpose of the study was to evaluate the test–retest reliability and limits of agreement of the Balance Evaluation Systems Test (BESTest) in young people with intellectual disabilities. A descriptive cross-sectional study was conducted with 65 young people (ages 16–25 years) with intellectual disability. The participants completed the BESTest (27 items) twice. Intraclass correlation coefficients (ICC), 95% confidence intervals (CIs), and standard error of measurement (SEM) were calculated to determine the test–retest reliability of the BESTest. The BESTest overall scores' test–retest reliability was rated as excellent (≥ 0.75). Stability limits/verticality and reactive are fair to good (≥ 0.40– < 0.75). Biomechanical constraints, transitions and anticipatory movements, sensory orientation, and gait stability were excellent (≥ 0.75). Current evidence shows that young people with intellectual disabilities have impaired postural balance. However, there appears to be a lack of assessment tools that reliably evaluate the postural balance of this population. The results from this investigation show that BESTest provides "excellent reliability" (≥ 0.75) to assess postural balance in young people with intellectual disability. [ABSTRACT FROM AUTHOR]

Individuals with intellectual disabilities (ID) often exhibit lower levels of physical fitness compared to the general population, including reduced strength, endurance, flexibility, and coordination. Dynamic neuromuscular stabilization (DNS) training can potentially improve the performance of adults with ID caused by weak motor skills due to a lack of desirable nerve growth during childhood and before puberty. Also, DNS training proposed to improve physical fitness in this population, but the effectiveness and durability of DNS training on specific fitness components have not been well-established. This study employed a randomized controlled trial design to investigate the effects of an 8-week DNS training program on the strength, endurance, and flexibility of adults with ID. A total of 31 participants were randomly assigned to either an intervention group (n = 16) or a control group (n = 15). Muscular strength, endurance, and flexibility were assessed at baseline (pre-test), immediately after the intervention (post-test), and 2 months following the intervention (follow-up) using the 30-second chair stand (30sCS) test, sit-ups test, trunk lift test, and chair sit-and-reach test. Participants in the intervention group engaged in the DNS training program for 8 weeks, with 3 sessions per week, while the control group maintained their usual activities. The analysis of the outcome measures revealed significant time, group, and time-group interaction effects. Post-hoc analyses indicated that the DNS group exhibited significantly greater improvements in 30sCS, sit-ups, trunk lift, and chair sit-and-reach compared to the control group (p < 0.01). These improvements were maintained at the 2-month follow-up assessment in the DNS group. This randomized controlled trial demonstrates that an 8-week DNS training program significantly improves muscular strength, endurance, and flexibility in adults with ID, with benefits maintained at a 2 month follow-up. Further research is needed to replicate these findings and investigate underlying mechanisms, but the study highlights the potential of DNS training to promote physical fitness and well-being in individuals with ID. Trial registration RTC, prospectively registered in the Clinical Trial Registry (UMIN000053560) on 24/03/2024. [ABSTRACT FROM AUTHOR]

Novel Human Activity Recognition (HAR) methodologies, which are built upon learning algorithms and employ ubiquitous sensors, have achieved remarkable precision in the identification of sports activities. Such progress benefits all age groups of humanity, and in the future, AI will be used to address difficult problems in scientific research. A novel approach is introduced in this article to utilize motion sensor data in order to categorize and distinguish various categories of sports activities. This is achieved through the parallel implementation of Convolutional Neural Networks (CNN) and machine learning methods. The methodology being proposed consists of four fundamental phases. The preliminary stage consists of sensor data preprocessing and normalization. In the subsequent phase, the signal characteristics are characterized using Discrete Wavelet Transform (DWT) and Short-Time Fourier Transform (STFT). Both are utilized in order to lay the foundation for the two CNN models that follow. Every signal representation is utilized as an input for a Separated convolutional model, which constructs the motion features using the sports motion information. When the two sets of motion pointsets from each CNN are merged, the situation becomes more balanced, and the Random Forest classification model is able to identify the type of sports activity by detecting and classifying the features. Using the DSADS dataset, the effectiveness of the proposed method in classifying a variety of sports activities was evaluated. A mean precision of 99.61% was achieved in this particular domain. [ABSTRACT FROM AUTHOR]

This study aims to validate the five repetition sit to stand test (5R-STS) test as a measure of strength and functionality in adolescents and adults with intellectual disabilities (ID). The sample was made up of 159 subjects with ID (85 adolescents and 74 adults) of both sexes, with average age of 18.36 (5.26) years, belonging to four special educational centers from Santiago, Chile. Absolute (AHGS) and relative (RHGS) handgrip strength and countermovement jump (CMJ) were considered as muscle strength evaluation tests. The timed up and go (TUG) and agility test 4 × 10 m were considered as functional tests. Spearman and intraclass correlations, as well as Bland-Altman plots were used to establish the respective correlations. The average values obtained in the 5R-STS test (s) in adolescents were 6.55 and 7.24, while in adults they were 6.82 and 7.17 for men and women, respectively. Significant correlations (p = < 0.05) are established between the 5R-STS test with AHGS (r= -0.48) and RHGS (r= -0.54), CMJ (-0.53), 4 × 10 m test (-0.50) and TUG (-0.49), as well as in the analysis of agreement between 5R-STS and the TUG (ICC = 0.74) and agility 4 × 10 m (ICC = 0.61) tests, both in adolescents and adults of both sexes. The 5R-STS test is a valid, simple and safe tool to evaluate general and lower extremity muscle strength. Its use is suggested as a simple measure for monitoring functional capacity by professionals in educational and health contexts for the adolescent and adult population with ID. [ABSTRACT FROM AUTHOR]

Purpose The purpose of this study was to investigate the potential of cognitive-behavioral therapy-based sports game intervention in enhancing empathy abilities among children with intellectual developmental disorder. Methods Thirty-one children aged 7–8, diagnosed with intellectual developmental disorder and attending mainstream schools, were enlisted for this study. They were randomly allocated to either the experimental group (n = 17) or the control group (n = 19). Both groups participated in regular physical activities of similar frequency and consistency throughout the study duration. Additionally, the experimental group underwent an 18-week cognitive-behavioral therapy-based sports game intervention. The Griffith Empathy Measure (GEM) questionnaire was administered to comprehensively evaluate the impact of the intervention program on the participants'empathy abilities. Results No statistically significant discrepancies were observed in the total scores and factor scores of the GEM pre-test between the experimental and control groups (GEM pre-test: p = 0.974 > 0.05). However, following the intervention, the experimental group exhibited notably higher total scores and factor scores in the GEM post-test compared to their pre-test scores, and these scores were significantly higher than those of the control group post-test scores. Conclusion Cognitive-behavioral therapy-based sports game intervention can effectively promote the development of empathy abilities in children with intellectual developmental disorder. [ABSTRACT FROM AUTHOR]

Intergroup bias is the tendency for people to inflate positive regard for their in-group and derogate the out-group. Across two online experiments (N = 922) this study revisits the methodological premises of research on language as a window into intergroup bias. Experiment 1 examined (i) whether the valence (positivity) of language production differs when communicating about an in- vs. out-group, and (ii) whether the extent of this bias is influenced by the positivity of input descriptors that were initially presented to participants as examples of how an in-group or out-group characterize themselves. Experiment 2 used the linear diffusion chain method to examine how biases are transmitted through cultural generations. Valence of verbal descriptions were quantified using ratings obtained from a large-scale psycholinguistic database. The findings from Experiment 1 indicated a bias towards employing positive language in describing the in-group (exhibiting in-group favoritism), particularly in cases where the input descriptors were negative. However, there was weak evidence for increased negativity aimed at the out-group (i.e., out-group derogation). The findings from Experiment 2 demonstrated that in-group positivity bias propagated across cultural generations at a higher rate than out-group derogation. The results shed light on the formation and cultural transmission of intergroup bias. [ABSTRACT FROM AUTHOR]

Stereotypies are one of the diagnostic criteria for autism spectrum disorder (ASD) and are common to both ASD and intellectual disability (ID). Previous studies have been inconclusive, with some showing a positive correlation between stereotypies and cortisol, while others have shown a negative correlation. We hypothesised and investigated the presence of ASD as one of the variables involved in this discrepancy. We tested the following hypotheses on serum cortisol in a total of 84 hospitalised patients with severe ID and ASD with severe ID. Hypothesis (1) Higher levels of stereotypies are associated with higher levels of serum cortisol. Hypothesis (2) The presence of ASD will moderate the association between stereotypies and high serum cortisol levels. The results of the analysis supported hypotheses (1) and (2). We also found that in the population with ID, serum cortisol levels were significantly lower in the ASD group compared to the non-ASD group. The present findings that the association between stereotypies and serum cortisol levels in people with severe ID is moderated by the presence of ASD suggest that the stress response system may function differently in people with ID and ASD than in the general population. [ABSTRACT FROM AUTHOR]

Emotional outbursts are displays of intense, challenging behaviour and are prevalent in individuals with neurodevelopmental disorders. Outbursts present a danger to individuals and their carers and are cited as reasons for referral to mental health services. However, it is currently unclear how the characteristics of outbursts may determine their severity. Carers (n = 214) of individuals aged between 6 and 25 and experiencing outbursts at least once per month completed the Emotional Outburst Questionnaire. Questionnaire items were used to compare behaviours observed in most severe and least severe outbursts through quantitative and content analyses of open ended data. Signs of physiological arousal and aggression were seen significantly more in most severe outbursts compared to least severe outbursts. Least severe outbursts were seen more frequently, but most severe outbursts were reported to have a longer duration, be at a higher intensity, and have a longer recovery time. Additionally, associations were found between reduced eye contact and most severe outbursts, as well as expression of suicidal ideation and most severe outbursts. Certain behaviours, notably forms of aggression and physiological arousal, are associated with most severe outbursts. Findings of this study may allow future work examining cross-disorder differences in outbursts to inform targeted interventions aiming to reduce outburst severity and impact. Additionally, identification of such outburst characteristics could aid in measurement of outburst severity, which would allow for more reliable and valid studies on outburst interventions. [ABSTRACT FROM AUTHOR]

Pet ownership has been associated with reduced deterioration in physical health as older adults age; little research focused on deterioration in cognitive function. We examine the relationship of pet, dog, cat ownership, and dog walking to changes in cognitive function among 637 generally healthy community-dwelling older adults (185 pet owners) aged 50–100 years (M = 68.3, SD = 9.6) within the BLSA. Cognitive assessments every 1–4 years over 1–13 years (M = 7.5, SD = 3.6) include the California Verbal Learning (Immediate, Short, Long Recall); Benton Visual Retention; Trail-Making (Trails A, B, B-A); Digit Span; Boston Naming (Naming); and Digit Symbol Substitution (Digit Symbol) Tests. In linear mixed models, deterioration in cognitive function with age was slower for pet owners than non-owners (Immediate, Short, Long Recall; Trails A,B,B-A; Naming; Digit Symbol); dog owners than non-owners (Immediate, Short Recall; Trails A,B; Naming; Digit Symbol); and cat owners than non-owners (Immediate, Short, Long Recall; Naming), controlling for age and comorbidities. Among dog owners (N = 73) walkers experienced slower deterioration than non-walkers (Trails B, B-A; Short Recall). All ps ≤ 0.05. We provide important longitudinal evidence that pet ownership and dog walking contribute to maintaining cognitive function with aging and the need to support pet ownership and dog walking in design of senior communities and services. [ABSTRACT FROM AUTHOR]

Few studies have examined the association between disability and chronic obstructive pulmonary disease (COPD). We compared the trends in the annual COPD prevalence between people with and without disabilities, and examined the association between disability and COPD. We linked the National Health Information Database (2008–2017) with the National Disability Registration Database, which includes more than 2 million people with disabilities every year. In the 2017 dataset, people with disabilities had a higher prevalence of COPD than those without disabilities (30.6% vs. 12.5%, P < 0.001). The age-standardized prevalence rate of COPD among people without disabilities increased from 4.2 in 2008 to 10.9% in 2017 (change of 6.7%), whereas that among those with disabilities increased from 7.0 to 17.1% (change of 10.1%). In multivariate analysis, compared to people without disabilities, those with disabilities had a higher probability of having COPD (adjusted odds ratio, 1.42; 95% confidence interval 1.42–1.43). The results of subgroup analysis by disability characteristics suggested that disabilities due to failure of an organ, such as the kidney, lung, heart, or liver, and severe disabilities were particularly vulnerable to COPD. In conclusion, people with disabilities are more likely to have COPD compared to people without disabilities. Further longitudinal studies that examine cause-and-effect relationship between disability and COPD are needed to clarify this relationship and to further investigate any potential negative effects associated with the coexistence of these conditions. [ABSTRACT FROM AUTHOR]

In the present study, we aimed to quantify the effects of COVID-19 restrictions and speech treatment approaches during lockdowns on autistic children using CBCL and neuro-fuzzy artificial intelligence method. In this regard, a survey including CBCL questionnaire is prepared using online forms. In total, 87 children with diagnosed Autism spectrum disorders (ASD) participated in the survey. The influences of three treatment approaches of in-person, telehealth and public services along with no-treatment condition during lockdown were the main factors of the investigation. The main output factors were internalized and externalized problems in general and their eight subcategory syndromes. We examined the reports by parents/caregivers to find correlation between treatments and CBCL listed problems. Moreover, comparison of the eight syndromes rating scores from pre-lockdown to post-lockdown periods were performed. In addition, artificial intelligence method were engaged to find the influence of speech treatment during restrictions on the level of internalizing and externalizing problems. In this regard, a fully connected adaptive neuro fuzzy inference system is employed with type and duration of treatments as input and T-scores of the syndromes are the output of the network. The results indicate that restrictions alleviate externalizing problems while intensifying internalizing problems. In addition, it is concluded that in-person speech therapy is the most effective and satisfactory approach to deal with ASD children during stay-at-home periods. [ABSTRACT FROM AUTHOR]

Adolescents are known to be particularly vulnerable, compared to children and adults, to initiation of substance use and progression to problematic use. This study aimed to examine the prevalence and type of illicit drug use in a population of adolescents and young adults who were hospitalized in a psychiatric hospital. The purpose of the study was also to find the link between age, sex, type of admission and particular mental disorders and using psychoactive substances at least once in a lifetime. A 12-month retrospective cross-sectional analysis of medical records compiled for adolescent and youth psychiatric patients who had been admitted to the Regional Psychiatric Hospital in Olsztyn, Poland, between October 1, 2018, and September 30, 2019, was conducted. After analyzing the available medical records, 506 cases were included and analyzed. Data for the study were collected in an Excel spreadsheet from discharge reports, including data from psychiatric examinations, especially anamnesis. Subsequently, statistical calculations were performed. Lifetime prevalence of any illicit substance use (34.0%) was common. The most frequently used drug was Cannabis (29.2%), the next New Psychoactive Substance—NPS (14.2%) and Amphetamine (13.0%). The higher number of people declaring to take illicit substances was proportional to the increasing age. Except for the group 10–15 years, the subject group was dominated by males. The highest, statistically significant percentage of patients who declared taking illicit substances in general, was found in people with diagnoses F20–F29 (schizophrenia, schizotypal and delusional disorders) (55%), additionally, we found a statistically significant association between NPS use and these diagnoses. Only in the group of patients diagnosed with eating disorders no one declared taking psychoactive substances. However, the correlation between taking illicit drugs and the subgroups with diagnosed psychiatric diseases should be treated with caution because of the small sample size in some cases. Our findings have shown the significant prevalence of the phenomenon in this population. These data highlight the need to explore this population at high risk carefully. [ABSTRACT FROM AUTHOR]

Sensory processing difficulties can negatively impact wellbeing in adults with disabilities. A range of interventions to address sensory difficulties have been explored and virtual reality (VR) technology may offer a promising avenue for the provision of sensory interventions. In this study, preliminary evidence about the impact of Evenness, an immersive VR sensory room experience, for people with disabilities was investigated via a single intervention pre-post mixed methods design. Quantitative methodology included single intervention pre-post design (five month timeframe) with 31 adults with various developmental disabilities to determine the impact of use of aVR sensory room using a head mounted display (HMD) in relation to anxiety, depression, sensory processing, personal wellbeing and adaptive behaviour. Qualitative semi-structured interviews were also conducted with thirteen purposefully selected stakeholders following Evenness use. Results indicated significant improvements in anxiety, depression and sensory processing following Evenness use. Qualitative analysis corroborated the anxiety findings. No significant changes were observed in personal wellbeing or adaptive behaviour. Results are promising and indicate that a VR sensory room may have a positive impact on anxiety, depression and sensory processing for adults with disabilities. A longer study timeframe and a more rigorous experimental methodology is needed to confirm these findings. [ABSTRACT FROM AUTHOR]

The Structured Water Dance Intervention (SWAN) is a dance-oriented aquatic group activity directed to give opportunities for the joy of movement, relaxation, and reduced stress. This study aimed to evaluate the effects of SWAN on salivary cortisol and stress in adults with profound intellectual and multiple disabilities (PIMD). A total of 34 adults with PIMD at four habilitation centres in Sweden completed the SWAN intervention. The intervention was administered for 40 min once a week during a 12-week period. Saliva cortisol was collected in the morning and evening at baseline one week before the intervention, thrice during the intervention period, and one week after the intervention. Moreover, in connection with the SWAN sessions, the participants' level of stress was also assessed by the accompanying assistants. The results showed that salivary cortisol and participants stress decreased significantly, directly after the SWAN sessions compared with measures directly before sessions. The study demonstrates that adults with PIMD have diurnal salivary cortisol patterns consistent with those observed in adults without disability and that the SWAN reduces salivary cortisol levels and stress in people with PIMD; this justifies that SWAN could be considered in the choice of interventions to reduce stress in adults with PIMD. Trial registration: This study is registered 09/04/2019 on ClinicalTrials.gov (ID: NCT03908801). [ABSTRACT FROM AUTHOR]

Emotional outbursts or temper outbursts are challenging behaviours commonly experienced by people with neurodevelopmental disorders and people who have experienced childhood adversity, which can negatively impact individuals and their families. Emotional outbursts may manifest in different situations via unique pathways distinguished by context-specific differences in the regulation and expression of emotions. Caregivers (N = 268) of young people (6–25 years) with emotional outbursts completed a bespoke caregiver-report questionnaire. Potential pathways were identified by examining the patterns of antecedents and setting events related to outbursts through factor and cluster analyses. Six contextual factors were derived from the Emotional Outburst Questionnaire. Based on these factors, the responses were classified into three clusters, which may represent potential pathways of emotional outbursts. The three clusters were characterized by the increased likelihood of outbursts: (1) across all setting events and triggers; (2) in safe setting events; (3) in unsafe setting events. These potential pathways may be related to: (1) differences in sensory processing; (2) masking of emotions in unsafe environments; (3) differences in safety perception. This framework supports a transdiagnostic account of emotional outbursts and may facilitate the development of pathway-specific intervention strategies. [ABSTRACT FROM AUTHOR]

Diabetes is an ambulatory care sensitive condition that quality of care can prevent complications development and hospitalization needs. However, diabetes patients with disability face greater challenges with receiving quality diabetes care than those without disabilities. This study examined diabetes-related avoidable hospitalizations (DRAH) focusing on the association with disability. We used nationally representative health insurance cohort data from 2002 to 2013. The study population is people who were newly diagnosed with type 2 diabetes. We measured the cumulated number of DRAH using the Prevention Quality Indicators (PQIs). The variables of interest were disability severity and type. We performed a recurrent events analysis using Cox proportional hazard regression model. Among 49,410 type 2 diabetes patients, 12,231 (24.8%) experienced DRAHs at least once during the follow-up period. Among the total population, 5924 (12.0%) diabetes patients were registered as disabled. The findings report that disability severity was significantly associated with higher risks for DRAH, where severely disabled diabetes patients showed the highest hazard ratio of 2.24 (95% CI 1.80–2.79). Among three DRAH indicators, severely disabled diabetes patients showed increased risks for long-term (AHR 2.21, 95% CI 1.89–2.60) and uncontrolled (AHR 2.28, 95% CI 1.80–2.88) DRAH. In addition, intellectual (AHR 5.52, 95% CI 3.78–8.05) and mental (AHR 3.97, 95% CI 2.29–6.89) disability showed higher risks than other types of disability. In conclusion, diabetes patients with disability are at higher risk for DRAH compared to those without disabilities, and those with intellectual and mental disabilities were more likely to experience DRAH compared to those with physical or other types of disability. These findings call for action to find the more appropriate interventions to improve targeted diabetes primary care for patients with disability. Further research is needed to better understand determinants of increasing risks of DRAH. [ABSTRACT FROM AUTHOR]

This study aimed to examine the longitudinal relationship between disability and depressive symptoms, by comparing four types of disability in community-dwelling individuals with disabilities in South Korea. A total of 3347 South Koreans with disabilities from the second wave of the Panel Survey of Employment for the Disabled was utilized. Depressive symptomatology was assessed by whether the participant had experienced depressive symptoms for more than two weeks during the past year. A multivariate logistic regression model was used to calculate the odds ratio (OR) for depressive symptoms, and a Cox proportional hazards model to calculate the hazard ratio (HR) for two-year survival analysis. Persons who acquired mental disability from accident or industrial disaster and persons with congenital physical-internal disability were at higher risk for depressive symptoms. Maintaining employment was found to be an effective way to decrease the risk of depressive symptoms in persons with physical-external disability, sensory/speech disability, or mental disability. In contrast, in physical-internal disability, retaining normal ability to work seemed to be the key to reduce the risk of depressive symptoms. Predictors of depressive symptoms were found to differ depending on the type of disability. Such differences should be reflected in clinical and policy-level interventions to address the specific psychiatric needs of persons with different disabilities. [ABSTRACT FROM AUTHOR]

Intellectual disability (ID) affects approximately 1% of the population. Some patients with severe or profound ID are essentially non-communicating and therefore risk experiencing pain and distress without being able to notify their caregivers, which is a major health issue. This real-world proof of concept study aimed to see if heart rate (HR) monitoring could reveal whether non-communicating persons with ID experience acute pain or distress in their daily lives. We monitored HR in 14 non-communicating participants with ID in their daily environment to see if specific situations were associated with increased HR. We defined increased HR as being > 1 standard deviation above the daily mean and lasting > 5 s. In 11 out of 14 participants, increased HR indicated pain or distress in situations that were not previously suspected to be stressful, e.g. passive stretching of spastic limbs or being transported in patient lifts. Increased HR suggesting joy was detected in three participants (during car rides, movies). In some situations that were previously suspected to be stressful, absence of HR increase suggested absence of pain or distress. We conclude that HR monitoring may identify acute pain and distress in non-communicating persons with ID, allowing for improved health care for this patient group. [ABSTRACT FROM AUTHOR]

Down syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born infants. In addition to intellectual disability, individuals with DS have other comorbidities and complex medical conditions. The increase in the life expectancy of patients with DS requires expanding the knowledge about their clinical characteristics and related laboratory parameters. Several studies exploring laboratory tests in DS patients exist, but their focus is limited to specific areas of metabolism. Therefore, our main goal was to describe the biochemical and hematological findings in a DS cohort and to compare the values to those of a control population. A total of 248 DS individuals and 84 control subjects were enrolled. DS individuals had a higher frequency of several clinical conditions compared to control individuals and presented with significant differences with respect to the controls in both biochemical and hematological parameters. We found age- and sex-related differences in several of the parameters. A good understanding of the differences in our cohort might be of aid in the clinical follow-up of adults with DS, especially considering that the lifespan of DS individuals may reach 60 years of age in developed countries. [ABSTRACT FROM AUTHOR]

Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). We evaluated the differences in CSF NfL accross groups and its association with other CSF biomarkers and with cognitive scales. All neurogenerative diseases showed increased levels of CSF NfL, with the highest levels in patients with ALS, FTD, CBS and PSP. Furthermore, we found an association of CSF NfL levels with cognitive impairment in patients within the AD and FTD spectrum and with AD pathology in DLB and DS patients. These results have implications for the use of NfL as a marker in neurodegenerative diseases. [ABSTRACT FROM AUTHOR]

Some previous studies have indicated that valproate (VPA) might change the pharmacokinetics and enhance the effects of propofol. We evaluated whether clinical VPA therapy affected the propofol blood level, the protein-unbound free propofol level, and/or the anesthetic effects of propofol in the clinical setting. The subjects were divided into the control group (not medicated with antiepileptics), the mono-VPA group (medicated with VPA alone), and the poly-VPA group (medicated with VPA, other antiepileptics, and/or psychoactive drugs). General anesthesia was induced via the administration of a single bolus of propofol and a remifentanil infusion, and when the bispectral index (BIS) exceeded 60 sevoflurane was started. There were no significant differences in the total blood propofol level at 5, 10, 15, and 20 min or the protein-unbound free propofol level at 5 min after the intravenous administration of propofol between the 3 groups. However, the minimum BIS was significantly lower and the time until the BIS exceeded 60 was significantly longer in the poly-VPA group. In the multivariate regression analysis, belonging to the poly-VPA group was found to be independently associated with the minimum BIS value and the time until the BIS exceeded 60. Clinical VPA therapy did not influence the pharmacokinetics of propofol. However, multi-drug therapy involving VPA might enhance the anesthetic effects of propofol. [ABSTRACT FROM AUTHOR]

People with intellectual disability have a higher risk of oral health problems. This study assessed the clinical oral health status and behaviors and treatment needs of people living in an institution in Padang, West Sumatra, Indonesia. We quantified oral health status of 65 individuals with intellectual disability using Oral Hygiene Index Simplified (OHIs), Angle's classification of malocclusion, Community Periodontal Index and Treatment Need (CPITN), and decay index and also recorded their brushing behavior. We found that males had significantly lower OHIs (p < 0.001), more malocclusion (p < 0.001), greater caries number (p < 0.001), greater CPITN (p = 0.001) and higher need of dental treatment (p < 0.01) than females. Additionally, we found that high caries number was associated with poor OHIS, malocclusion, periodontal disease, and dependent brushing behavior (p < 0.001). The findings of this study imply that there is a gap in appropriate oral health care in individuals with intellectual disability. There should be a greater focus on providing appropriate oral health education to people with intellectual disability, improving the health literacy and quality of care of caregivers, and providing more dentists with specialized training in special needs dentistry. [ABSTRACT FROM AUTHOR]

This study aimed to determine the effectiveness and safety of varenicline versus NRT for smoking cessation in people with neurodevelopmental disorders, compared to those without, at up to four years after exposure. We analysed electronic medical records from the Clinical Practice Research Datalink using three different statistical approaches: multivariable logistic regression, propensity score matching (PSM), and instrumental variable analysis. Exposure was prescription of varenicline versus NRT and the primary outcome was smoking cessation at 2-years. We included 235,314 people aged 18 and above with eligible smoking cessation prescriptions in the effectiveness analysis. Smokers with neurodevelopmental disorders were 48% less likely (95% confidence interval: 42%, 54%) to be prescribed varenicline than NRT, compared to smokers without neurodevelopmental disorders. At 2-year follow-up, smokers with neurodevelopmental disorders prescribed varenicline were 38% more likely to quit smoking (95% confidence interval: 6%, 78%). Similar results were obtained using PSM and instrumental variable analyses. There was little evidence showing that varenicline increased the likelihood of mental health related adverse events in people with neurodevelopmental disorders. Varenicline is less likely to be prescribed to people with neurodevelopmental disorders despite results suggesting it is more effective than NRT and little evidence of increased likelihood of mental health related adverse events. [ABSTRACT FROM AUTHOR]

Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in developing countries such as Brazil, classical cytogenetic tests are still the most used in clinical practice, as reflected by the scarcity of publications of microarray investigation in larger cohorts. This is a retrospective study which analyses the reading files of CMA and available clinical data from 420 patients from the south of Brazil, mostly children, with neurodevelopmental disorders requested by medical geneticists and neurologists for diagnostic purpose. Previous karyotyping was reported for 138 and includes 17 with abnormal results. The platforms used for CMA were CYTOSCAN 750K (75%) and CYTOSCAN HD (25%). The sex ratio of the patients was 1.625 males :1 female and the mean age was 9.5 years. A total of 96 pathogenic copy number variations (CNVs), 58 deletions and 38 duplications, were found in 18% of the patients and in all chromosomes, except chromosome 11. For 12% of the patients only variants of uncertain clinical significance were found. No clinically relevant CNV was found in 70%. The main referrals for chromosomal microarrays (CMA) were developmental delay (DD), intellectual disability (ID), facial dysmorphism and autism spectrum disorder (ASD). DD/ID were present in 80%, facial dysmorphism in 52% and ASD in 32%. Some phenotypes in this population could be predictive of a higher probability to carry a pathogenic CNV, as follows: dysmorphic facial features (p-value = < 0.0001, OR = 0.32), obesity (p-value = 0.006, OR = 0.20), short stature (p-value = 0.032, OR = 0.44), genitourinary anomalies (p-value = 0.032, OR = 0.63) and ASD (p-value = 0.039, OR = 1.94). The diagnostic rate for CMA in this study was 18%. We present the largest report of CMA data in a cohort with ND in Brazil. We characterize the rare CNVs found together with the main phenotypes presented by each patient, list phenotypes which could predict a higher diagnostic probability by CMA in patients with a neurodevelopmental disorder and show how CMA and classical karyotyping results are complementary. [ABSTRACT FROM AUTHOR]

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2–12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation. [ABSTRACT FROM AUTHOR]

Attention-deficit/hyperactivity disorder (ADHD) frequently co-occurs with intellectual disability in children, and may further compromise learning. Methylphenidate is a first-line treatment for ADHD, however no previous meta-analysis has evaluated its overall efficacy for ADHD in children with comorbid intellectual disability (ID) or borderline intellectual functioning. The PubMed/MEDLINE, Cochrane CENTRAL and ScienceDirect databases were systematically searched from inception through 2018/7/15 for clinical studies that investigated the effects of methylphenidate in children with ADHD and ID. A random-effects model meta-analysis was used for data synthesis. Eight studies (average Jadad score = 2.5) enrolling 242 participants receiving methylphenidate and 181 participants receiving placebo were included. The meta-analysis showed that methylphenidate led to a significant improvement in ADHD symptoms relative to placebo (Hedges' g = 0.878, p < 0.001). Meta-regression analysis pointed to an association between the dose of methylphenidate and overall improvement in ADHD severity (slope = 1.334, p < 0.001). Finally, there was no significant difference in drop-out rate [odds ratio (OR) = 1.679, p = 0.260] or rate of treatment discontinuation due to adverse events (OR = 4.815, p = 0.053) between subjects receiving methylphenidate and those taking placebos. Our study suggests that methylphenidate retains its efficacy in children with ADHD and borderline intellectual functioning or ID. [ABSTRACT FROM AUTHOR]

Variants of unknown/uncertain significance (VUS) pose a huge dilemma in current genetic variation screening methods and genetic counselling. Driven by methods of next generation sequencing (NGS) such as whole exome sequencing (WES), a plethora of VUS are being detected in research laboratories as well as in the health sector. Motivated by this overabundance of VUS, we propose a novel computational methodology, termed VariantClassifier (VarClass), which utilizes gene-association networks and polygenic risk prediction models to shed light into this grey area of genetic variation in association with disease. VarClass has been evaluated using numerous validation steps and proves to be very successful in assigning significance to VUS in association with specific diseases of interest. Notably, using VUS that are deemed significant by VarClass, we improved risk prediction accuracy in four large case-studies involving disease-control cohorts from GWAS as well as WES, when compared to traditional odds ratio analysis. Biological interpretation of selected high scoring VUS revealed interesting biological themes relevant to the diseases under investigation. VarClass is available as a standalone tool for large-scale data analyses, as well as a web-server with additional functionalities through a user-friendly graphical interface. [ABSTRACT FROM AUTHOR]

Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes. [ABSTRACT FROM AUTHOR]