2024 Wheelchair Compendium of Physical Activities:An update of activity codes and energy expenditure values

Purpose:This paper presents an update of the 2011 Wheelchair Compendium of Physical Activities designed for wheelchair users and is referred to as the 2024 Wheelchair Compendium.The Wheelchair Compendium aims to curate existing knowledge of the energy expenditure for wheelchair physical activities(PAs).Methods:A systematic review of the published energy expenditure of PA for wheelchair users was completed between 2011 and May 2023.We added these data to the 2011 Wheelchair Compendium data that was compiled previously in a systematic review through 2011.Results:A total of 47 studies were included,and 124 different wheelchair PA reported energy expenditure values ranging from 0.8 metabolic equivalents for wheelchair users(filing papers,light effort)to 11.8 metabolic equivalents for wheelchair users(Nordic sit skiing).Conclusion:In introducing the updated 2024 Wheelchair Compendium,we hope to bridge the resource gap and challenge the prevailing narratives that inadvertently exclude wheelchair users from physical fitness and health PAs.

Dysregulation of RNA modification systems in clinical populations with neurocognitive disorders

The study of modified RNA known as epitranscriptomics has become increasingly relevant in our understanding of disease-modifying mechanisms.Methylation of N6 adenosine(m^(6)A)and C5 cytosine(m^(5)C)bases occur on mRNAs,tRNA,mt-tRNA,and rRNA species as well as non-coding RNAs.With emerging knowledge of RNA binding proteins that act as writer,reader,and eraser effector proteins,comes a new understanding of physiological processes controlled by these systems.Such processes when spatiotemporally disrupted within cellular nanodomains in highly specialized tissues such as the brain,give rise to different forms of disease.In this review,we discuss accumulating evidence that changes in the m^(6)A and m^(5)C methylation systems contribute to neurocognitive disorders.Early studies first identified mutations within FMR1 to cause intellectual disability Fragile X syndromes several years before FMR1 was identified as an m^(6)A RNA reader protein.Subsequently,familial mutations within the m^(6)A writer gene METTL5,m^(5)C writer genes NSUN2,NSUN3,NSUN5,and NSUN6,as well as THOC2 and THOC6 that form a protein complex with the m^(5)C reader protein ALYREF,were recognized to cause intellectual development disorders.Similarly,differences in expression of the m^(5)C writer and reader effector proteins,NSUN6,NSUN7,and ALYREF in brain tissue are indicated in individuals with Alzheimer's disease,individuals with a high neuropathological load or have suffered traumatic brain injury.Likewise,an abundance of m^(6)A reader and anti-reader proteins are reported to change across brain regions in Lewy bodies diseases,Alzheimer's disease,and individuals with high cognitive reserve.m^(6)A-modified RNAs are also reported significantly more abundant in dementia with Lewy bodies brain tissue but significantly reduced in Parkinson's disease tissue,whilst modified RNAs are misplaced within diseased cells,particularly where synapses are located.In parahippocampal brain tissue,m^(6)A modification is enriched in transcripts associated with psychiatric disorders including conditions with clear cognitive deficits.These findings indicate a diverse set of molecular mechanisms are influenced by RNA methylation systems that can cause neuronal and synaptic dysfunction underlying neurocognitive disorders.Targeting these RNA modification systems brings new prospects for neural regenerative therapies.

Forebrain excitatory neuron-specific loss of Brpf1 attenuates excitatory synaptic transmission and impairs spatial and fear memory

Bromodomain and plant homeodomain(PHD)finger containing protein 1(Brpf1)is an activator and scaffold protein of a multiunit complex that includes other components involving lysine acetyltransferase(KAT)6A/6B/7.Brpf1,KAT6A,and KAT6B mutations were identified as the causal genes of neurodevelopmental disorders leading to intellectual disability.Our previous work revealed strong and specific expression of Brpf1 in both the postnatal and adult forebrain,especially the hippocampus,which has essential roles in learning and memory.Here,we hypothesized that Brpf1 plays critical roles in the function of forebrain excitatory neurons,and that its deficiency leads to learning and memory deficits.To test this,we knocked out Brpf1 in forebrain excitatory neurons using CaMKIIa-Cre.We found that Brpf1 deficiency reduced the frequency of miniature excitatory postsynaptic currents and downregulated the expression of genes Pcdhgb1,Slc16a7,Robo3,and Rho,which are related to neural development,synapse function,and memory,thereby damaging spatial and fear memory in mice.These findings help explain the mechanisms of intellectual impairment in patients with BRPF1 mutation.

Bridging the gap:Unveiling the crisis of physical inactivity in inflammatory bowel diseases

In this editorial we comment on the article titled“Inflammatory bowel diseases patients suffer from significant low levels and barriers to physical activity:The BE-FIT-IBD study”published in a recent issue of the World Journal of Gastroen-terology 2023;29(41):5668-5682.Inflammatory bowel diseases(IBD)are emerging as a significant global health concern as their incidence continues to rise on a global scale,with detrimental impacts on quality of life.While many advances have been made regarding the management of the disease,physical inactivity in these patients represents an underexplored issue that may hold the key for further and better understanding the ramifications of IBD.Chronic pain,fatigue,and fear of exacerbating symptoms promotes physical inactivity among IBD patients,while the lack of clear guidelines on safe exercise regimens contributes to a norm of physical inactivity.Physical activity(PA)is accepted to have a positive effect on disease outcomes and quality of life,while inactivity exacerbates comorbidities like cardiovascular disease and mental health disorders.The“BE-FIT-IBD”study,focusing on PA levels and barriers in IBD patients of Southern Italy,revealed that a significant proportion(42.9%)were physically inactive.This lack of PA is attributed to barriers such as fear of flare-ups and misconceptions about exercise exacerbating the disease.The study also highlighted the need for better communication between healthcare providers and patients regarding the benefits of PA and safe incorporation into lifestyles.Moreover,physical inactivity may also contribute to disability in IBD patients,having a great impact on employment status.Of note is the fact that IBD also comes with an important psychological burden with relevant evidence suggesting that regular PA can improve mood,reduce anxiety,and enhance mental health.The“BE-FIT-IBD”study advocated for the integration of PA into IBD management,emphasizing the bidirectional link between PA and IBD.Regular exercise can influence the course of IBD,potentially reducing symptom severity and prolonging remission periods.As such,it is mandatory that healthcare providers actively educate patients,dispel misconceptions,and tailor exercise recommendations to improve the quality of life and reduce IBD-related complications.

Transcriptional regulation in the development and dysfunction of neocortical projection neurons

Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord.Appropriate development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and synaptogenesis.These processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural activities.The generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.

Understanding the spectrum of non-motor symptoms in multiple sclerosis:insights from animal models

Multiple sclerosis is a chronic autoimmune disease of the central nervous system and is generally considered to be a non-traumatic,physically debilitating neurological disorder.In addition to experiencing motor disability,patients with multiple sclerosis also experience a variety of nonmotor symptoms,including cognitive deficits,anxiety,depression,sensory impairments,and pain.However,the pathogenesis and treatment of such non-motor symptoms in multiple scle rosis are still under research.Preclinical studies for multiple sclerosis benefit from the use of disease-appropriate animal models,including experimental autoimmune encephalomyelitis.Prior to understanding the pathophysiology and developing treatments for non-motor symptoms,it is critical to chara cterize the animal model in terms of its ability to replicate certain non-motor features of multiple sclerosis.As such,no single animal model can mimic the entire spectrum of symptoms.This review focuses on the non-motor symptoms that have been investigated in animal models of multiple sclerosis as well as possible underlying mechanisms.Further,we highlighted gaps in the literature to explain the nonmotor aspects of multiple sclerosis in expe rimental animal models,which will serve as the basis for future studies.

What aspects do we overlook in the rehabilitation of patients with inflammatory bowel disease?

In this editorial,we comment on the article by Stafie et al.Inflammatory bowel disease(IBD)constitutes a cluster of chronic and progressive inflammatory disorders affecting the digestive system.IBD can impede an individual’s capacity to perform daily activities,hinder work productivity,limit physical capabilities,and negatively impact medical outcomes.Although physical activity and structured exercise programs are becoming increasingly important in many chronic inflammatory diseases,they are not being sufficiently implemented in IBD patients.Effective prevention of future disability and drug dependence in IBD patients requires timely diagnosis and treatment of musculoskeletal problems,including sarcopenia,as well as decreased muscle strength,aerobic capacity,and bone mineral density.To improve treatment outcomes for IBD patients,it is crucial to develop individualized rehabilitation programs tailored to their unique needs.Equally critical is the active participation of pertinent departments in this process.It is imperative to highlight the significance of creating a personalized rehabilitation program with a multidisciplinary approach in IBD management.

CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system

The protein connector enhancer of kinase suppressor of Ras 2(CNKSR2),present in both the postsynaptic density and cytoplasm of neurons,is a scaffolding protein with several protein-binding domains.Variants of the CNKSR2 gene have been implicated in neurodevelopmental disorders,particularly intellectual disability,although the precise mechanism involved has not yet been fully understood.Research has demonstrated that CNKSR2 plays a role in facilitating the localization of postsynaptic density protein complexes to the membrane,thereby influencing synaptic signaling and the morphogenesis of dendritic spines.However,the function of CNKSR2 in the cytoplasm remains to be elucidated.In this study,we used immunoprecipitation and high-resolution liquid chromatography-mass spectrometry to identify the interactors of CNKSR2.Through a combination of bioinformatic analysis and cytological experiments,we found that the CNKSR2 interactors were significantly enriched in the proteome of the centrosome.We also showed that CNKSR2 interacted with the microtubule protein DYNC1H1 and with the centrosome marker CEP290.Subsequent colocalization analysis confirmed the centrosomal localization of CNKSR2.When we downregulated CNKSR2 expression in mouse neuroblastoma cells(Neuro 2A),we observed significant changes in the expression of numerous centrosomal genes.This manipulation also affected centrosome-related functions,including cell size and shape,cell proliferation,and motility.Furthermore,we found that CNKSR2 interactors were highly enriched in de novo variants associated with intellectual disability and autism spectrum disorder.Our findings establish a connection between CNKSR2 and the centrosome,and offer new insights into the underlying mechanisms of neurodevelopmental disorders.

Oral candidiasis and potential risk factors among disabled and nondisabled in Al-Baha region, Saudi Arabia

BACKGROUND Oral candidiasis(OC)is an oral health disease that could influence patients’oral health quality of life.AIM To estimate prevalence of OC among disabled and non-disabled individuals and its potential risk factors in the Al-Baha region,Saudi Arabia.METHODS An observational cross-sectional study was carried out among 148 disabled and non-disabled participants.The technique of concentrated oral rinse employing the Sabouraud Dextrose Agar medium accompanied with 0.05%chloramphenicol was conducted to assess and isolate candida.Oral examination using the World Health Organization guidelines was conducted to examine participants’oral hea-lth status.A pre-designed questionnaire was also used to evaluate sociodemo-graphic,medical history,and oral hygiene habits of the studied population.RESULTS Out of 148 participants(n=57,38%)had colonized candida.None of the studied population had visible Candida lesions.However,Candida was found in the oral rinses without the subject presenting any lesions or issues caused by Candida(asymptomatic colonization).The most common prevalent OC among participants were Candida albicans,Candida glabrata,Candida dubliniensis,Candida krusei,Candida tropicalis,and Candida parapsilosis(n=35,61%;n=8,14%;n=6,10%;n=5,9%;n=2,4%;and n=1,2%)respectively.Diabetes,smoking,poor plaque,and gingival status were key potential risk factors that significantly associated with candida’s density and presence(P=0.001,P=0.001,P=0.01,and P=0.01)respectively.Disability status had no statistically significant effect on presence and density of Candida.CONCLUSION The prevalence of OC is almost third of the studied population;thus,may provoke a need to develop preventive strategies to reduce the OC rate and establish solid treatment plans.

Peripheral blood RNA biomarkers can predict lesion severity in degenerative cervical myelopathy

Degenerative cervical myelopathy is a common cause of spinal cord injury,with longer symptom duration and higher myelopathy severity indicating a worse prognosis.While numerous studies have investigated serological biomarkers for acute spinal cord injury,few studies have explored such biomarkers for diagnosing degenerative cervical myelopathy.This study involved 30 patients with degenerative cervical myelopathy(51.3±7.3 years old,12 women and 18 men),seven healthy controls(25.7±1.7 years old,one woman and six men),and nine patients with cervical spondylotic radiculopathy(51.9±8.6 years old,three women and six men).Analysis of blood samples from the three groups showed clear differences in transcriptomic characteristics.Enrichment analysis identified 128 differentially expressed genes that were enriched in patients with neurological disabilities.Using least absolute shrinkage and selection operator analysis,we constructed a five-gene model(TBCD,TPM2,PNKD,EIF4G2,and AP5Z1)to diagnose degenerative cervical myelopathy with an accuracy of 93.5%.One-gene models(TCAP and SDHA)identified mild and severe degenerative cervical myelopathy with accuracies of 83.3%and 76.7%,respectively.Signatures of two immune cell types(memory B cells and memory-activated CD4^(+)T cells)predicted levels of lesions in degenerative cervical myelopathy with 80%accuracy.Our results suggest that peripheral blood RNA biomarkers could be used to predict lesion severity in degenerative cervical myelopathy.

Exploring the Pathways of Leprosy Patients from Their Communities to a Diagnosis in the Districts of Mayuge, Yumbe and Kasese-Uganda

Background: Leprosy is known to cause disability that leads to severe outcomes like stigma, discrimination, mental health problems and participation restriction. Furthermore, in cases of infectious leprosy, longer delays increase the risk for the spread of the disease. Despite being preventable and curable, a significant proportion of new leprosy patients (39%) in 2019 had grade 2 (Described as Visible disability) at the time of diagnosis signifying late presentation. The aim of this study was to describe patient journeys from first symptoms suggestive of leprosy to a diagnosis and individual and community level factors associated with health seeking behavior of leprosy patients. Methods: This was a cross-sectional explorative study implemented in Kasese, Mayuge and Yumbe districts .A structured questionnaire was used to collect quantitative data. Qualitative assessment included patients, family members, health workers, voluntary health teams and the district health team. Descriptive statistics were presented in terms of percentages, frequency tables, pie Charts and graphs for easy interpretation and discussion. Results: The results indicate that 53% of the respondents identified as female. The median age of the respondents being 34 years, with a range of 1 to 76 years (Mean: 44.7, Mode: 65, Standard-Deviation: 19.6, Kurtosis: 0.6). The most common first symptom noticed by respondents was skin lesions (65%) followed by deformities (18%) (P value = 0.05%) occurring mostly in the feet (P-value = 0.48). Majority (52%) of the patients had taken more than 24 months (SD 18.72 OR 2.75) for a diagnosis to be made with a maximum delay of over 60 months. The most common cause of delay in seeking health care was lack of knowledge on leprosy (P value=Conclusions: There was a delay of 2 years in seeking health care for the majority of the patients. Key barriers to early diagnosis were lack of knowledge and infrastructure. Community sensitization and strengthening capacity building are needed to achieve early diagnosis of leprosy and proper management.

Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder:A case report

BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.

The Role of Music Therapy in Supporting Intellectually Disabled Youth in Senegal

Introduction: Music therapy is a practice for helping and supporting people with intellectual and relational difficulties. This study illustrated the benefits of music therapy for young people living with intellectual disabilities (YLID) in an African context. Methodology: This study investigated six young individuals with intellectual disabilities who had undergone three years of music therapy. They were participants in the inclusive non-academic training program at the National School of Arts in Dakar from 2017 to 2019. Data collection utilized individual interviews with the youths, evaluation grids from teachers and psychiatrists. Guardians provided informed consent along with the assent of the young participants. Results: The six young were aged between 18 and 30 years old, with an average age of 24.6 years. Four of the YLID were male. Three young people with intellectual disabilities had delayed psychomotor development. Observations revealed the beneficial influence of music therapy on the health and well-being of young individuals. Music played a role in alleviating stress and anxiety among youth with intellectual disabilities (YLID), enhancing their mood and mental health. It assisted in navigating challenging situations and heightened alertness among YLID. Additionally, music therapy contributed to improvements in dyslexia, fine and gross motor skills, and memory development among intellectually disabled youth, ultimately facilitating their integration into society. Conclusion: In light of our results, music therapy makes a major contribution to the empowerment of YLID. Engaging in musical activities helps young people connect with others through instrumental expression and a sense of accomplishment. By facilitating music therapy, it becomes possible to combat discrimination and stigmatization, thus promoting the social inclusion of intellectually disabled youth. Therefore, it is important to promote music therapy in Senegal to meet the needs of YLID.

Associated Factors of Dental Caries among Intellectually Disabled Persons in Specialized Centers of Ouagadougou

Introduction: Several studies have reported a high prevalence of dental caries among the people with intellectual disabilities. In order to identify the sociodemographic, clinical and behavioral factors associated with it, we conducted a study in specialized centers welcoming subjects with intellectual disabilities in Ouagadougou (Burkina Faso). Objectives: The objective of this study was to identify the factors associated with it among intellectually disabled in the specialized centers of Ouagadougou. Methods: The study was cross-sectional analytical. The survey took place between November 2020 and January 2021 among people with intellectual disabilities in reception centers receiving a grant from the Ministry of Women, National Solidarity, Family and Humanitarian Action. Data collection was done with a questionnaire adapted from the World Health Organization (WHO) and dental caries was recorded according to WHO criteria in decayed, missing or filled teeth generating a DMF index. Logistic regression was used to identify factors associated with the presence of dental caries. Results: A total of 193 participants were included in the study with an average age of 12.4 years ± 7.9. The overall prevalence of caries measured with the DMF index was 58.6% 95% CI [51.2 - 65.8]. It was significantly associated with female gender (OR = 4.2;95% CI [1.4 - 12.5], p = 0,01), the clinical form of mental illness (epilepsy OR = 3.8 95%;CI [1.2 - 12.7], p = 0,02, trisomy OR = 5.0;95% CI [1.1 - 22.9], p = 0,03, motor autonomy OR = 0.2 95%;CI [0.1 - 0.7], p = 0,01) and at use of toothpaste OR = 9.33;95% CI [1.05 - 82.7], p = 0,04. Conclusion: Dental caries remains a very present pathology in most people living with an intellectual disability. Also, it is necessary to put in place prevention strategies to reduce its prevalence and improve access to oral care for these people.

Change in Functional Status from Preoperative to One Year Postoperative in Patients Who Have Undergone Elective Open-Heart Surgery: A Repeated-Measures Study

Purpose: Although patient-related factors affect surgical outcomes, preoperative functional status is not measured by any cardiac risk score. Functional status can, however, be objectively measured using validated outcome tools such as the Late-Life Function and Disability Instrument (LLFDI). The purpose of this study was to determine 1) if there was a change over time in functional status, as measured by the LLFDI, in patients who underwent elective cardiac surgery, and if so, 2) what specific aspect(s) of functional status changed. Methods: A prospective longitudinal study of one year was conducted on elective cardiac surgery patients (n = 43) using the self-reported LLFDI, which measures Disability Frequency (frequency of participation in social tasks), Disability Limitation (ability to participate in social tasks) and Function Total (ease in performing routine activities). Higher scores indicate increased function and decreased disability. LLFDI scores were compared at three times (preoperative, six-week and one-year postoperative) using repeated measures ANOVA. Post hoc pairwise comparison was conducted for specific interactions. Results: Both Function Total and Disability Frequency significantly changed over time (p = 0.047 and p = 0.013, respectively). Specifically, patients’ function level was significantly higher one-year postoperative compared to preoperative (M difference = +3.48, SE = 1.48, p = 0.026). Likewise, Disability Frequency scores were significantly higher (i.e. more active) at one-year postoperative versus preoperative (M difference= +5.98, SE = 2.19, p = 0.033). Disability Limitation scores were not significantly different between any time points (p > 0.05). Conclusion: By one-year postoperative, patients demonstrated increased ease in their routine physical activities and were more participatory in social life tasks. Individuals who underwent elective cardiac surgery took more than six weeks to detect notable improvement in functional status, which was expected with a sternotomy approach. This study provides support for the use of the LLFDI as an effective tool to capture functional status in the cardiac population. These findings may assist cardiac patients in recovery timeline expectations.

Travel-Limiting Disabilities in the United States: Why Accessibility Matters?

This study evaluates the distribution of travel-limiting disabilities across genders and geographic locations in the United States. This study aims to describe and compare the socioeconomic and demographic variables of the people with and without travel-limiting disabilities across geographic locations and gender. The study further evaluates the trip purpose and impact of Covid-19 fourth wave pandemic on the use of public transit and travel to physical workplace for the people with and without travel-limiting disabilities across gender and geographic locations. The study uses the 2022 weighted National Household Travel Survey dataset and employs descriptive statistics. Results reaffirm the findings from previous literature that there are more people with travel-limiting disabilities in urban areas and among women. Over 50 percent of people aged 65 and above have a form of travel-limiting disabilities. The most trip for people with travel-limiting disabilities is made for shopping and medical purposes. Across all categories, rural areas, urban areas, male and female for the people without travel-limiting disabilities, COVID-19 fourth wave did not change the pattern of trips made to physical workplace as pre-COVID-19 era. This pattern is also observable for the people with travel-limiting disabilities in rural and urban areas. Females with travel-limiting disabilities reported making less trips to physical workplaces while male reported doing the same as before COVID-19 era. The study concludes that the quantification of travel-limiting disabilities across geographic location and gender is vital in disability study and could drive policy implementation for improved accessibility for the vulnerable population.

Understanding Behavioral Manifestations of Obsessive-Compulsive Disorder in People with Intellectual Disabilities—A Qualitative Study

Background: There is limited knowledge about obsessive-compulsive disorder (OCD) in people with intellectual disabilities (IDs). This paper describes the manifestation of compulsive behaviors associated with OCD at the behavioral level in people with ID in institutionalized settings. The aim was to gain nuanced insight into appropriate understanding and classification in this specific context, and derive implications for research and practice. Methods: Individual cases of people with ID (n = 7) were studied to assess compulsive symptoms through two days of on-site observation of the person with ID within the institution, guided group discussions (n = 28), and semi-structured interviews with key informants and caregivers of the person with ID (n = 20). Caregiver ratings of the compulsive behavior checklist were compiled. Data were analyzed using qualitative content analysis. Results: All forms of OCD were present. Characteristics of compulsive behaviors in people with ID at the behavioral level included less complex and more obvious compulsive acts, immediate responses, signs of tension, motor restlessness, facial expression changes, repetition, need for predictability, time-consuming behaviors, and aggressive reactions when these acts were interrupted. Some of the compulsive behaviors corresponded to the ICD-11 OCD code 6B20, and others to compulsions as a psychological symptom (MB23.4). Conclusions: OCD may manifest atypically at the behavioral level in people with ID, posing significant challenges for accurate classification due to symptom ambiguity. Follow-up differential diagnostic studies are needed to more accurately identify and differentiate OCD symptoms in people with ID. Further, disorder-specific guidelines for recognizing OCD in people with ID are needed for institutionalized settings without psychiatric-psychotherapeutic expertise.

An Analysis of Specific Categories of Birth Defects and Developmental Disabilities for Children of Participants of the Air Force Health Study

Background: The Air Force Health Study collected reproductive outcomes for live-born children of male Air Force veterans of the Vietnam War. Methods: Dioxin values for participants were obtained from blood samples. Analyses were conducted of occurrence of 16 specific categories of birth defects and developmental disabilities. Children were categorized as conceived before and after the start of participants’ Vietnam War service. Children conceived before the start of Vietnam War service were treated as being conceived when their fathers had unquantifiable dioxin values. Children conceived after the start of Vietnam War service for participants with missing dioxin values were excluded from primary analyses, but were used to assess the impact of their exclusion on conclusions. Correlation between values for specific categories for multiple children fathered by the same participant was accounted for. The dose-response relationship was treated as a step function increasing for dioxin values larger than adaptively identified individual thresholds changing with the specific category. Results: For 15 of 16 specific categories, the probability of occurrence increased substantially for a sufficiently high dioxin level above identified thresholds. Exclusion of children due to missing dioxin likely did not affect these results. Conclusions: Results supported the conclusion of substantial adverse effects on a wide variety of specific categories of birth defects and developmental disabilities due to sufficiently high exposures to dioxin, a toxic contaminant of Agent Orange used for herbicide spraying in the Vietnam War. Results may hold more generally, but might also have been affected by a variety of limitations.

Using Linear and Non-Linear Techniques to Characterize Gait Coordination Patterns of Two Individuals with NGLY1 Deficiency

Individuals with NGLY1 Deficiency, an inherited autosomal recessive disorder, exhibit hyperkinetic movements including athetoid, myoclonic, dysmetric, and dystonic movements impacting both upper and lower limb motion. This report provides the first set of laboratory-based measures characterizing the gait patterns of two individuals with NGLY1 Deficiency, using both linear and non-linear measures, during treadmill walking, and compares them to neurotypical controls. Lower limb kinematics were obtained with a camera-based motion analysis system and bilateral time normalized lower limb joint time series waveforms were developed. Linear measures of joint range of motion, stride times and peak angular velocity were obtained, and confidence intervals were used to determine if there were differences between the patients and control. Correlations between participant and control mean joint waveforms were calculated and used to evaluate the similarities between patients and controls. Non-linear measures included: joint angle-angle diagrams, phase-portrait areas, and continuous relative phase (CRP) measures. These measures were used to assess joint coordination and control features of the lower limb motion. Participants displayed high correlations with their control counterparts for the hip and knee joint waveforms, but joint motion was restricted. Peak angular velocities were also significantly less than those of the controls. Both angle-angle and phase-portrait areas were less than the controls although the general shapes of those diagrams were similar to those of the controls. The NGLY1 Deficient participants’ CRP measures displayed disrupted coordination patterns with the knee-ankle patterns displaying more disruption than the hip-knee measures. Overall, the participants displayed a functional walking pattern that differed in many quantitative ways from those of the neurotypical controls. Using both linear and non-linear measures to characterize gait provides a more comprehensive and nuanced characterization of NGLY1 gait and can be used to develop interventions targeted toward specific aspects of disordered gait.

Prevalence of Depression and Anxiety in Patients with Autoimmune Disease: A Comparative Study with a Diabetic Population

Introduction: Systemic diseases are a variety of heterogeneous autoimmune and/or autoinflammatory diseases and syndromes usually affecting multiple systems and resulting from immune system dysregulation. We evaluated risk factors for depression and anxiety in an autoimmune disease cohort compared with diabetic patients. Patients and Methods: We conducted an observational, cross-sectional, case-control survey comparing two groups: individuals with connective tissue disease (CTD) and diabetic controls who were followed within three Dakar University hospitals during the period from April to June 2023. Results: The sample comprised 106 participants, of whom 51 (48%) had CTD and 55 (52%) served as diabetic controls. In the CTD group, the majority had lupus (19) and rheumatoid arthritis (23). The CTD patients had a mean age of 41.0 years (SD 16.9), while the diabetic patients had a mean age of 55.9 years (SD 11.7), with a significant difference observed (p Conclusion: Compared to a chronic disease, devastating in Africa and evolving over the long term, autoimmune diseases are more strongly and more frequently associated with anxiety and depression. This is a factor to be taken into account in the holistic management of these patients.