Profound Disabilities Research Articles

Five-year results of no-fault compensation related to childbirth injuries in Taiwan

ObjectiveIncreasing obstetric medical litigations had great impacts in health care system resulted in lower recruitment of residents and higher medical cost of defensive medicine in Taiwan. In order to reduce medical litigation, the “Childbirth Accident Emergency Relief Act” was implemented in June 2016. This study presented five-year results of a novel childbirth accident compensation system. Materials and methodsThe purpose of the Relief Act was to establish a national relief system to ensure timely relief, reduce medical disputes, promote the partnership between patient and medical personnel. The compensations included maximal 2 million NTD for maternal death, maximal 0.3 million NTD for neonatal and fetal deaths, and 3, 2, and 1.5 million NTD for maternal or neonatal profound, severe, and moderate disabilities, respectively. Puerperal hysterectomy was included with maximal 0.8 million NTD compensation. ResultsSince June 30, 2016 to June 30, 2021, there were 1340 applications reviewed by Committee and 1258 were approved with total relief of 744.7 million NTD (26.6 million USD) with approve rate of 93.9%. It took an average of 109.8 days to start application from childbirth and 102.4 days to get compensation from application. 66.1% of accident victims agreed this system can restore doctor–patient relationship by immediate care and assistance from medical institutions. ConclusionThe Relief Act is the first government leading compensation system to establish a national relief system. It was enacted to reduce medical disputes, promote the partnership between patient and medical personnel, and enhance health and safety of women during childbirth. A no-fault compensation would be an efficient alternative disputes resolution to childbirth accidents.

HUC-MSC-mediated recovery of subacute spinal cord injury through enhancing the pivotal subunits β3 and γ2 of the GABAA receptor.

Rationale: Spinal cord injury (SCI) remains an incurable neurological disorder leading to permanent and profound neurologic deficits and disabilities. Human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) are particularly appealing in SCI treatment to curtail damage, restore homeostasis and possible neural relay. However, the detailed mechanisms underlying hUC-MSC-mediated functional recovery of SCI have not been fully elucidated. The purpose of our current study is to identify novel therapeutic targets and depict the molecular mechanisms underlying the hUC-MSC-mediated recovery of subacute SCI.Methods: Adult female rats suffering from subacute incomplete thoracic SCI were treated with intrathecal transplantation of hUC-MSCs. The beneficial effects of hUC-MSCs on SCI repair were evaluated by a series of behavioral analyses, motor evoked potentials (MEPs) recording of hindlimb and immunohistochemistry. We carried out extensive transcriptome comparative analyses of spinal cord tissues at the lesion site from the subacute phase of SCI (sub-SCI) either treated without (+PBS) or with hUC-MSCs (+MSC) at 0 (sub-SCI), 1, 2, and 4 weeks post-transplantation (wpt), as well as normal spinal cord segments of intact/sham rats (Intact). Adeno-associated virus (AAV)-mediated neuron-specific expression system was employed to functionally screen specific γ-aminobutyric acid type A receptor (GABAAR) subunits promoting the functional recovery of SCI in vivo. The mature cortical axon scrape assay and transplantation of genetically modified MSCs with either overexpression or knockdown of brain-derived neurotrophic factor (BDNF) were employed to demonstrate that hUC-MSCs ameliorated the reduction of GABAAR subunits in the injured spinal cord via BDNF secretion in vitro and in vivo, respectively.Results: Comparative transcriptome analysis revealed the GABAergic synapse pathway is significantly enriched as a main target of hUC-MSC-activated genes in the injured spinal cord. Functional screening of the primary GABAAR subunits uncovered that Gabrb3 and Garbg2 harbored the motor and electrophysiological recovery-promoting competence. Moreover, targeting either of the two pivotal subunits β3 or γ2 in combination with/without the K+/Cl- cotransporter 2 (KCC2) reinforced the therapeutic effects. Mechanistically, BDNF secreted by hUC-MSCs contributed to the upregulation of GABAAR subunits (β3 & γ2) and KCC2 in the injured neurons.Conclusions: Our study identifies a novel mode for hUC-MSC-mediated locomotor recovery of SCI through synergistic upregulation of GABAAR β3 and γ2 along with KCC2 by BDNF secretion, indicating the significance of restoring the excitation/inhibition balance in the injured neurons for the reestablishment of neuronal circuits. This study also provides a potential combinatorial approach by targeting the pivotal subunit β3 or γ2 and KCC2, opening up possibilities for efficacious drug design.

Modern concepts of bionic vision

Loss of vision is a pressing medical and social problem leading to profound disability, loss of ability to work, serious alterations in the psycho-emotional state, and a decline of the quality of life. When conservative or surgical treatment can not help restore vision, the use of visual prosthesis - bionic eye - can be an effective solution. This review covers the main modern approaches to the development of visual prosthetic systems. Analysis of publications revealed that there are several main approaches to visual prosthesis differing primarily by the anatomical structure targeted for stimulation in order to activate visual sensations. The most significant among them are retinal prostheses, optic nerve stimulation, and cortical visual prostheses. Currently, retinal prostheses such as ARGUS II demonstrate the most successful results, since the stimulation of the surviving neural structures of the retina is a relatively easy task, but their field of application is limited to diseases associated with pathological changes in photoreceptors. The development of cortical visual prostheses is more difficult, but in the future they may allow using more stimulation channels to obtain a more detailed visual perception. In addition, cortical visual prostheses are universal, as they do not require preservation of any structures of the visual organ, only the primary visual cortex.

Cognition in Interaction: Challenges in Assessing Persons with Sensory and Multiple disabilities

This article reports a qualitative study of cognitive assessments of three teenagers with sensory and multiple disabilities, including moderate to profound developmental disability. The aim was to evaluate the possibilities for adapting standardized tests and the implementation of interactional partnership in assessment. Cognitive assessments were made with an individually-adapted psychological assessment tool, the Bayley Scales of Infant and Toddler Development. The assessment situations were video-recorded and analyzed based on sociocultural theories of early interaction, dynamic assessment, and the bodily-tactile modality of cognition. The results showed that the requirements for assessment are complex and highly individualized, extending beyond universal guidelines on test adaptations. The assessments were built on developmental steps within the standardized test, but required a special emphasis on individuality and interaction. We conclude that the study provides novel insights into an under-researched area of cognitive assessment, confirming earlier findings that cognitive skills become observable in unique moments of intensive interaction. The assessor must follow the principles of dynamic assessment, applying competent partner strategies such as providing safety, supporting attention, activity, and alertness, and scaffolding the target skills in the zone of proximal development. Conducted thus, the cognitive assessment process can enable the assessor to recognize, support and authenticate the agency of persons with complex disabilities.

Home- and Community-Based Services Use Patterns and Functional Improvement among Older Care Recipients in Taiwan

The new version of Taiwan’s 10-Year Long-Term Care Plan launched in 2016 aims to reinforce the integration of home- and community-based services (HCBS). The underlying HCBS use patterns and effectiveness of functional improvement among care recipients merit investigation. The purpose of the study was to examine the association of HCBS and changes in ADLs among care recipients with different levels of disabilities in Taiwan. We accessed the sub data of Taiwan’s Long-Term Care Services Management Online System. Samples were aged 65 and over and had completed records of baseline and reassessment information during 2018 (N = 4787). Latent class analysis and multivariate linear regression were applied to examine the relationship of HCBS and functional changes. Four HCBS subpatterns were found: home-based personal care services (home-based PS) (59.16%), home-based reablement services (home-based RS) (23.90%), home-based multiple services (home-based MS) (11.93 %), and community-based services (5.01%). In the cases with mild disabilities at baseline, recipients receiving home-based RS had higher probabilities of improving in ADLs among four HCBS subgroups (for example: β = 2.65, SE = 1.19 in comparison to home-based PS). Care recipients with moderate-to-severe disability at baseline, ADLs improvement was only found in home-based PS (β = 1.63, SE = 0.82 in comparison of home-based MS). In the cases with profound disabilities, home-based PS showed positive effects on ADLs improvement (β = 2.45, SE = 0.80 in ADLs, compared to home-based RS). The study suggested that HCBS subpatterns had different impacts on older adults with different disability levels.

Membership in a kind: Nature, norms, and profound disability

AbstractCan rationality serve as the basis of respect for people who do not have this capacity? This paper starts from the assumption that rationality is both the norm for the human species and the basis of respect. The paper considers whether the species norm determines the nature of those profoundly disabled people who do not themselves possess the norm‐related characteristics, and if it does, whether this implies that these same individuals are owed respect. The principal conclusion is that, while a positive response to these questions has its merits, it faces hard questions of its own, some of which appear insoluble. If that is what they are, then any attempt to ground respect for profoundly disabled people on an appeal to rationality as the species norm will fail, and those of us who believe that this group of human beings is owed respect will have to come up with an alternative explanation.

Self-injury as a predominant challenging behavior in epilepsy: A study in a residential facility for profoundly disabled patients

BackgroundThe association between challenging behavior (CB) and epilepsy in people with intellectual disability (ID) remains largely controversial. AimTo clarify the correlation between CB and epilepsy, we investigated the clinical characteristics of CB in both people with and without epilepsy among individuals with ID hospitalized in our residential facility. Methods and proceduresA total of 63 individuals with CB was retrospectively investigated using the Behavior Problems Inventory, and the following items were collected from the medical records: sex, age, hospitalization period, etiology and risk factors, level of ID, type of CB, administration of psychotropic drugs, presence or absence of epilepsy and clinical features of epilepsy. Outcomes and resultsAlmost all individuals with CB showed profound ID. There was no significant difference in the rate of CB between people with and without epilepsy. A type analysis of CB revealed that self-injurious behavior was observed more frequently in epilepsy cases (66.7 %) than in cases without epilepsy (36.4 %) (p = 0.015), and self-injurious behavior was the predominant clinical form in people with epilepsy among the three subgroups of CB (self-injurious, aggressive and self-injurious and aggressive behavior). Conclusions and implicationsThe high incidence of self-injurious behavior in epilepsy with profound disabilities may imply the presence of common pathological basis of self-injurious behavior and epilepsy.

Lower Cognitive Set Shifting Ability Is Associated With Stiffer Balance Recovery Behavior and Larger Perturbation-Evoked Cortical Responses in Older Adults.

The mechanisms underlying associations between cognitive set shifting impairments and balance dysfunction are unclear. Cognitive set shifting refers to the ability to flexibly adjust behavior to changes in task rules or contexts, which could be involved in flexibly adjusting balance recovery behavior to different contexts, such as the direction the body is falling. Prior studies found associations between cognitive set shifting impairments and severe balance dysfunction in populations experiencing frequent falls. The objective of this study was to test whether cognitive set shifting ability is expressed in successful balance recovery behavior in older adults with high clinical balance ability (N = 19, 71 ± 7 years, 6 female). We measured cognitive set shifting ability using the Trail Making Test and clinical balance ability using the miniBESTest. For most participants, cognitive set shifting performance (Trail Making Test B-A = 37 ± 20 s) was faster than normative averages (46 s for comparable age and education levels), and balance ability scores (miniBESTest = 25 ± 2/28) were above the threshold for fall risk (23 for people between 70 and 80 years). Reactive balance recovery in response to support-surface translations in anterior and posterior directions was assessed in terms of body motion, muscle activity, and brain activity. Across participants, lower cognitive set shifting ability was associated with smaller peak center of mass displacement during balance recovery, lower directional specificity of late phase balance-correcting muscle activity (i.e., greater antagonist muscle activity 200–300 ms after perturbation onset), and larger cortical N1 responses (100–200 ms). None of these measures were associated with clinical balance ability. Our results suggest that cognitive set shifting ability is expressed in balance recovery behavior even in the absence of profound clinical balance disability. Specifically, our results suggest that lower flexibility in cognitive task performance is associated with lower ability to incorporate the directional context into the cortically mediated later phase of the motor response. The resulting antagonist activity and stiffer balance behavior may help explain associations between cognitive set shifting impairments and frequent falls.

Genome Instability in Multiple Myeloma: Facts and Factors.

Multiple myeloma (MM) is a malignant neoplasm of terminally differentiated immunoglobulin-producing B lymphocytes called plasma cells. MM is the second most common hematologic malignancy, and it poses a heavy economic and social burden because it remains incurable and confers a profound disability to patients. Despite current progress in MM treatment, the disease invariably recurs, even after the transplantation of autologous hematopoietic stem cells (ASCT). Biological processes leading to a pathological myeloma clone and the mechanisms of further evolution of the disease are far from complete understanding. Genetically, MM is a complex disease that demonstrates a high level of heterogeneity. Myeloma genomes carry numerous genetic changes, including structural genome variations and chromosomal gains and losses, and these changes occur in combinations with point mutations affecting various cellular pathways, including genome maintenance. MM genome instability in its extreme is manifested in mutation kataegis and complex genomic rearrangements: chromothripsis, templated insertions, and chromoplexy. Chemotherapeutic agents used to treat MM add another level of complexity because many of them exacerbate genome instability. Genome abnormalities are driver events and deciphering their mechanisms will help understand the causes of MM and play a pivotal role in developing new therapies.

Morphometry and functional connectivity of auditory cortex in school-age children with profound language disabilities: Five comparative case studies

Many neurodevelopmental conditions imply absent or severely reduced language capacities at school age. Evidence from functional magnetic resonance imaging is highly limited. We selected a series of five cases scanned with the same fMRI paradigm and the aim of relating individual language profiles onto underlying patterns of functional connectivity (FC) across auditory language cortex: three with neurogenetic syndromes (Coffin-Siris, Landau-Kleffner, and Fragile-X), one with idiopathic intellectual disability, one with autism spectrum disorder (ASD). Compared to both a group with typical development (TD) and a verbal ASD group (total N = 110), they all showed interhemispheric FC below two standard deviations of the TD mean. Children with higher language scores showed higher intrahemispheric FC between Heschl’s gyrus and other auditory language regions, as well as an increase of FC during language stimulation compared to rest. An increase of FC in forward vs. reversed speech in the posterior and middle temporal gyri was seen across all cases. The Coffin-Siris case, the most severe, also had the most anomalous FC patterns and showed reduced myelin content, while the Landau-Kleffner case showed reduced cortical thickness. These results suggest potential for neural markers and mechanisms of severe language processing deficits under highly heterogeneous etiological conditions.

Wearable wristband-based electrochemical sensor for the detection of phenylalanine in biofluids

Wearable electrochemical sensors are driven by the user-friendly capability of on-site detection of key biomarkers for health management. Despite the advances in biomolecule monitoring such as glucose, still, several unmet clinical challenges need to be addressed. For example, patients suffering from phenylketonuria (PKU) should be able to monitor their phenylalanine (PHE) level in a rapid, decentralized, and affordable manner to avoid high levels of PHE in the body which can lead to a profound and irreversible mental disability. Herein, we report a wearable wristband electrochemical sensor for the monitoring of PHE tackling the necessity of controlling PHE levels in PHE hydroxylase deficiency patients. The proposed electrochemical sensor is based on a screen-printed electrode (SPE) modified with a membrane consisting of Nafion, to avoid interferences in biofluids. The membrane also consists of sodium 1,2-naphthoquinone-4-sulphonate for the in situ derivatization of PHE into an electroactive product, allowing its electrochemical oxidation at the surface of the SPE in alkaline conditions. Importantly, the electrochemical sensor is integrated into a wristband configuration to enhance user interaction and engage the patient with PHE self-monitoring. Besides, a paper-based sampling strategy is designed to alkalinize the real sample without the need for sample pretreatment, and thus simplify the analytical process. Finally, the wearable device is tested for the determination of PHE in saliva and blood serum. The proposed wristband-based sensor is expected to impact the PKU self-monitoring, facilitating the daily lives of PKU patients toward optimal therapy and disease management.

M151 A RARE CASE OF AUTOIMMUNE AUTONOMIC GANGLIONOPATHY

Autoimmune autonomic ganglionopathy (AAG) is a rare disease mediated by antibodies causing severe orthostatic-hypotension. Due to its unique presentation, patients can go undiagnosed causing them profound disability and poor-quality of life. Our case of AAG presenting in a 69-year-old-female illustrates the importance of including AAG in the differential diagnosis for patients who present with autonomic dysfunction.

Труднощі добору специфічної терапії при тяжких формах вродженої цитомегаловірусної інфекції: погляд крізь час

The aim — to show the feasibility of using ganciclovir for congenital cytomegalovirus infection (CMVI) by demonstrating two clinical cases. Clinical cases. Over time, the approaches to the treatment of congenital CMVI have changed from the use of acyclovir to the appointment of ganciclovir. In 2011, a premature baby was diagnosed with congenital CMVI based on the presence of multiple organ lesions (lungs, liver, spleen, pancreas, eyes, central nervous system) and positive result of CMV PCR test in blood, urine and cerebrospinal fluid. Only acyclovir was used as an etiotropic drug due to the lack of evidence at that time on the safety of another antiviral drug — ganciclovir. Treatment was not completely effective: in the follow;up at the age of two the child has a grave violation hearing and vision and profound disability due to the residual effects on the central nervous system. In 2019, a newborn child with severe haemorrhagic syndrome, respiratory disorders and neurological symptoms was diagnosed with congenital CMVI by positive result of CMV PCR test and ganciclovir was prescribed at a dose of 6 mg/kg every 12 hours by an intravenous infusion under the control of a routine complete blood count (CBC) test. On the second week of treatment, positive dynamics was observed clinically, on the 6th week — negative result of CMV PCR test. The child was discharged on day 70th of treatment without residual effects on the central nervous system. At the age of 9 months, deafness of 2–3 degrees was diagnosed, but prosthetics were performed timely with complete restoration of hearing. At age of 12 month this child sits, rolls over, crawls; responds adequately to others; captures the gaze and keep an eye on items. Conclusions. Two clinical cases through the description of changes in approaches to specific therapy of congenital cytomegalovirus disease from acyclovir to ganciclovir and a clear demonstration of the difference in disease outcomes — from severe disability when ganciclovir was not prescribed, to complete rehabilitation with its use demonstrate the feasibility of prescribing ganciclovir. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: congenital cytomegalovirus infection, severe forms, treatment, acyclovir, ganciclovir.

Communication Strategies for Patients Who Are Nonverbal.

Communication Strategies for Patients Who Are Nonverbal.

Respect, cognitive capacity, and profound disability

AbstractAccording to one prominent form of moral individualism, how an individual is to be treated is determined, not by considering her group membership, but by considering her own particular characteristics. On this view, so this paper argues, it is not possible to provide an account of why people with profound cognitive disabilities are owed respect. This conclusion is not new, but it has been challenged by writers who are sympathetic to the recommended emphasis. The paper aims to show that the conclusion cannot be avoided, and to look at what is to be learned from an approach that leads us to this point. It suggests that any account of why profoundly disabled people are owed respect will have to supplement discussion of their particular capacities with a normative account of their humanity.

The impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model

Background Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, associated with a wide range of symptoms and functional issues, such as profound motor impairment and learning disability. Most individuals with AADC deficiency are completely dependent on their caregivers. This study explored the impact of caring for an individual with AADC deficiency. Methods Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in Italy, Portugal, Spain and the United States. An interview guide was developed with input from clinical experts and caregivers and included questions on the impact of caring for an individual with AADC deficiency. Interviews were conducted by telephone/videoconference and were recorded and transcribed. Data were analysed using thematic analysis. Results Fourteen caregivers took part who provided care to 13 individuals with AADC deficiency aged 1–15 years. Caregivers reported that their lives centred around the individual with AADC deficiency, due to their need for 24-hour care and regular healthcare appointments. They reported both proximal impacts (impact on time, planning, physical health and emotional wellbeing), and distal impacts (impact on social/leisure activities, relationships, work and finances). These concepts and relationships were illustrated in a conceptual model. Conclusions This is the first qualitative study to report on the experience of caring for an individual with AADC deficiency. Caregivers reported that caring had a substantial multifaceted impact on their lives. These findings highlight the importance of considering the caregiver experience when evaluating the burden of AADC deficiency.

How Mothers of Adults With Profound Intellectual Disabilities Experience Their Everyday Life? A Qualitative Retrospective Study From Poland

AbstractIntroductionLittle is known about the experiences of mothers who care for adult children with profound intellectual disabilities (ID). The aim of this study was to explore these experiences from their perspective. Parenting adult children with profound ID presents a type of maternal experience that differs from that commonly experienced by other mothers.MethodsResearchers conducted narrative interviews with 34 Polish mothers with adult children with profound ID. A narrative interview was used, a process that resembles an in‐depth, free‐flow conversation. Through follow‐up questions, researchers encouraged the interviewees to share stories of their personal experiences of motherhood. The information was shared during the participant interviews using analytical methods, based on theoretical and methodological concepts developed within the biographical sociology framework outlined by Fritz Schütze. The respondents were asked to share their thoughts about their experiences as mothers from past, present, and future perspectives.ImplicationsGaining a better understanding of and uncovering details about the motherhood experiences of women with adult children with profound disabilities are important so as to better understand ways to better support mothers in such situations. It is especially important to know about the ways in which these women perceive their experiences and to understand the social context that impacts their experiences and perceptions.

Online pedagogical practice in special education. Students' perspective

The aim of this study is to investigate students' perceptions of pedagogical practice in special education during online teaching. A number of 24 students from the “Aurel Vlaicu” University of Arad, specialization Special Psycho-pedagogy who attended online activities in classes with severe, profound and multiple mental disabilities completed a questionnaire and provided feedback related to the virtual school. The perception of the students participating in the pedagogical practice is that the virtual educational environment is an opportunity for special education, but only temporarily.

Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform

ObjectiveTo assess the association between learning disability and risk of hospital admission and death from covid-19 in England among adults and children.DesignPopulation based cohort study on behalf of NHS England...

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

BackgroundPhenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic literature review and meta-analysis was to estimate the global birth prevalence of PAH deficiency from newborn screening studies and to estimate regional differences, overall and for various clinically relevant Phe cutoff values used in confirmatory testing.MethodsThe protocol for this literature review was registered with PROSPERO (International prospective register of systematic reviews). Pubmed and Embase database searches were used to identify studies that reported the birth prevalence of PAH deficiency. Only studies including numeric birth prevalence reports of confirmed PAH deficiency were included.ResultsFrom the 85 publications included in the review, 238 birth prevalence estimates were extracted. After excluding prevalence estimates that did not meet quality assessment criteria or because of temporal and regional overlap, estimates from 45 publications were included in the meta-analysis. The global birth prevalence of PAH deficiency, estimated by weighting regional birth prevalences relative to their share of the population of all regions included in the study, was 0.64 (95% confidence interval [CI] 0.53–0.75) per 10,000 births and ranged from 0.03 (95% CI 0.02–0.05) per 10,000 births in Southeast Asia to 1.18 (95% CI 0.64–1.87) per 10,000 births in the Middle East/North Africa. Regionally weighted global birth prevalences per 10,000 births by confirmatory test Phe cutoff values were 0.96 (95% CI 0.50–1.42) for the Phe cutoff value of 360 ± 100 µmol/L; 0.50 (95% CI 0.37–0.64) for the Phe cutoff value of 600 ± 100 µmol/L; and 0.30 (95% CI 0.20–0.40) for the Phe cutoff value of 1200 ± 200 µmol/L.ConclusionsSubstantial regional variation in the birth prevalence of PAH deficiency was observed in this systematic literature review and meta-analysis of published evidence from newborn screening. The precision of the prevalence estimates is limited by relatively small sample sizes, despite widespread and longstanding newborn screening in much of the world.