Role of primary care for individuals with childhood-onset neurologic conditions.

Background: Individuals with childhood-onset neurologic conditions often face challenges in the pediatric-to-adult health care transition (HCT). Furthermore, the importance of implementing primary care is unrecognized. We investigated the situation of adults with childhood-onset neurologic conditions from the perspective of health care professionals (HCPs) in community- and hospital-based primary care practice.

Comparison between DSQIID total / sub-item scores and plasma p-tau elevation in adults with Down's syndrome.

The Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) is an appropriate screening tool for detecting dementia in Down's syndrome patients. However, whether this questionnaire reflects the neuropsychiatric signs of biomarker-confirmed Alzheimer's disease in DS (DS-AD) remains unknown. To address this issue, we compared the plasma phosphorylated tau (P181tau: p-tau) level of a representative AD biomarker with the total score and each sub-score of the DSQIID.

[Initiatives for supporting the health care transition in various regions: activities of transitional care support centers].

The Japanese Society of Neurology's Special Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care support centers (TCSCs). The following points were addressed: (1) from Kanagawa Prefecture, the activities of the TCSC, which is set up alongside the Intractable Disease Consultation Support Center and the Intractable Disease Information Coordination Center, separated from medical institutions, and the efforts addressing cases of difficult transitions and consultations where patients cannot transition from specific pediatric chronic diseases to designated intractable diseases; (2) from Nagano Prefecture, the supporting the health care transition undertaken by the neurologist as intractable disease medical coordinator, and (3) the efforts of the transitional health care support coordinator at the TCSC established at the university hospital in collaboration with the Nagano Children's Hospital and the government. For the creation of a seamless support system, we hope that the pioneering activities reported at this time will spread nationwide.

[Issues of transition support to adulthood and the practices of pediatric-adult healthcare transition in neurological diseases].

A workshop of the Special Committee on Measures for Transition from Pediatric to Adult Health Care, the Japanese Society of Neurology was held to discuss various issues and practices involved in healthcare transition. The following points were addressed: (1) the history of, and issues involved in, promoting support for patients requiring medical care, (2) cooperation between pediatric medical centers and university hospitals, (3) collaboration between pediatrics and neurology in medical and rehabilitation facilities, and (4) a questionnaire survey of members of the Japanese Society of Neurology. The reasons for extreme difficulties in pediatric-adult healthcare transition for patients with neurological diseases, especially those who require continuous intensive medical care over a long period of time, include the difference in the operating systems of pediatric and adult departments, in addition to the difference in the diseases treated during childhood and adulthood.

Somatosensory pathway dysfunction in patients with amyotrophic lateral sclerosis in a completely locked-in state.

Objective: To investigate somatosensory pathway function in patients with amyotrophic lateral sclerosis (ALS) dependent on invasive ventilation and in a completely locked-in state (CLIS).

Methods: We examined median nerve somatosensory evoked potentials (SEPs) in 17 ALS patients in a CLIS, including 11 patients with sporadic ALS, one with familial ALS with genes not examined, four with a Cu/Zn superoxide-dismutase-1 (SOD1) gene variant (Val118Leu, Gly93Ser, Cys146Arg), and one with a fused-in-sarcoma gene variant (P525L). We evaluated N9, N13, N20 and P25, and central conduction time (CCT); the data were compared with those of 73 healthy controls.

Benefits and Challenges of Pediatric-to-Adult Health Care Transition in Childhood-Onset Neurologic Conditions.

Background And Objectives: Although the importance of pediatric-to-adult health care transition (HCT) has been recognized, individuals with childhood-onset neurologic conditions often encounter challenges during pediatric-to-adult HCT, and HCT benefits for this population remain elusive. We assessed the current HCT situation in individuals with childhood-onset neurologic conditions to develop an improved transition system that incorporates patient perspectives.

Methods: This cross-sectional study was conducted at the Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled from November 2020 to December 2020.

Differential immunophenotypes of neuronal cytoplasmic inclusions in the dentate gyrus of multiple system atrophy and their association with clinicopathological features.

Although hippocampal pathologies of multiple system atrophy (MSA) and their association with dementia have been reported, no studies have reported clinicopathological differences among MSA patients with and without neuronal cytoplasmic inclusions (NCIs) in the dentate gyrus (dntNCIs). We investigated hippocampal NCI pathology in 18 MSA patient autopsies, focusing on phosphorylated α-synuclein (pAS)- and phosphorylated tau (pT)-positive dntNCIs. There were 8 MSA patients without and 10 with dntNCIs.

Medical Needs of Adults with Down Syndrome Presenting at a Regional Medical and Rehabilitation Center in Japan.

Background: Down syndrome (DS) is the most frequent chromosomal aberration; however, knowledge of associated health issues in adulthood is inadequate. We analyzed health data from Japanese adults with DS.

Methods: We conducted a retrospective chart review of 151 patients with DS who visited the Internal Medicine Outpatient Department of the Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled.

[Current practices of transition from pediatric to adult health care for patients with neurological disease: promote the cooperation between child and adult neurologists].

The Special Committee for Measures Against Transition from Pediatric to Adult Health Care of the Japanese Society of Neurology, which consists of child and adult neurologists, started to tackle the issues of pediatric to adult health care transition for patients with neurological disease in July 2020. The Committee held a workshop with a theme of "cooperation between child and adult neurologists," which is a critical issue in the pediatric to adult health care transition. To solve the many problems in the pediatric to adult health care transition, it is crucial that child and adult neurologists and primary care physicians cooperate on the following issues: preparing child neurologists for the transition, encouraging adult neurologists to study child neurology, promoting the formation of multidisciplinary teams, improving the medical system and medical fees, appealing to governmental agencies for issues of community health care and welfare services.

Huxleyan utopia or Huxleyan dystopia? "Scientific humanism", Faure's legacy and the ascendancy of neuroliberalism in education.

In addition to the longstanding threat posed by narrow economism, faith in the possibility of peace and progress through democratic politics - central to the humanistic vision of the 1972 Faure report - today faces additional challenges. These challenges include the ascendancy of neurocentrism in the global policyscape. Whereas the effects of neoliberalism on education have been extensively critiqued, the implications of a newer, related ideological framework known as liberalism remain under-theorised.

An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.

Background: The detailed neuropathological features of patients with autosomal recessive hereditary spastic paraplegia with a thin corpus callosum (TCC) and SPG11 mutations are poorly understood, as only a few autopsies have been reported. Herein, we describe the clinicopathological findings of a patient with this disease who received long-term care at our medical facility.

Case Presentation: A Japanese man exhibited a mild developmental delay in early childhood and intellectual disability, followed by the appearance of a spastic gait by age 13.

Tufted astrocyte-like glia in two autopsy cases of multiple system atrophy: Is it a concomitant neurodegenerative disorder with multiple system atrophy and progressive supranuclear palsy?

Tufted astrocytes are one of the core histopathological features of progressive supranuclear palsy (PSP). To our knowledge, only three cases of multiple system atrophy (MSA) with PSP pathology have been reported. Here, we report two autopsy cases of MSA associated with the appearance of tufted astrocyte-like glia (TuALG).

The International Science and Evidence-based Education Assessment.

Education is indispensable for the flourishing of people from all backgrounds and stages of life. However, given the accelerating demographic, environmental, economical, socio-political, and technological changes—and their associated risks and opportunities—there is increasing consensus that our current educational systems are falling short and that we need to repurpose education and rethink the organization of learning to meet the challenges of the 21st century. The United Nations Educational Scientific and Cultural Organization (UNESCO) “Futures of Education” initiative was formally launched at the United Nations General Assembly in 2019 to provide such a vision of education for the future.

Cerebral white matter tau-positive granular glial pathology as a characteristic pathological feature in long survivors of multiple system atrophy.

Introduction: It is unclear whether tau-positive granular glial pathology is a characteristic feature of MSA. We aimed to analyse the prevalence and significance of tau-positive granular glial pathology in MSA.

Methods: Fourteen MSA cases were clinicopathologically investigated, focusing on tau-positive granular glial pathology in the frontal and temporal white matter and putamen.

[Effect of laryngeal closure on recurrent aspiration pneumonia in patients with neurodegenerative disease].

Three patients with neurodegenerative diseases who had developed repeated aspiration pneumonia underwent laryngeal closure, a surgical procedure at the larynx to prevent aspiration. None of these patients have developed aspiration pneumonia since the procedure. One patient needed endoscopic suction and cough assist machine to clear thick sputum, because tracheostomy bypassed the upper airway and so prevented moisturization of inhaled air.

[Investigation of transition from pediatric to adult health care for patients with special health-care needs for neurological disease dating from childhood].

We investigated the patients followed in our hospital's adult neurology department to evaluate issues during the transition from pediatric to adult health care for patients with special health-care needs for neurological diseases. There has been an increase in the number of transition patients, and they were often recommended for the transition by pediatricians. Many patients had complications such as epilepsy, and there were also patients with an intractable disease.

Non-motor manifestations in ALS patients with tracheostomy and invasive ventilation.

Introduction: This study aimed to investigate non-motor manifestations in amyotrophic lateral sclerosis (ALS) patients with tracheostomy and invasive ventilation (TIV) and their relevance to disease progression.

Methods: Sixty-seven ALS patients with TIV were enrolled, and followed-up prospectively. The patients were classified at the final evaluation into two subgroups according to the duration of TIV use or disease stage measured by communication impairment.

Clinicopathological characteristics of patients with amyotrophic lateral sclerosis resulting in a totally locked-in state (communication Stage V).

In the present study, we performed a comprehensive analysis to clarify the clinicopathological characteristics of patients with amyotrophic lateral sclerosis (ALS) that had progressed to result in a totally locked-in state (communication Stage V), in which all voluntary movements are lost and communication is impossible. In 11 patients, six had phosphorylated TAR DNA-binding protein 43 (pTDP-43)-immunoreactive (ir) neuronal cytoplasmic inclusions (NCI), two had fused in sarcoma (FUS)-ir NCI, and three had copper/zinc superoxide dismutase (SOD1)-ir NCI. The time from ALS onset to the need for tracheostomy invasive ventilation was less than 24 months in ten patients.

[Analysis of resting salivation rate in patients with amyotrophic lateral sclerosis using tracheostomy invasive ventilation].

Patients with amyotrophic lateral sclerosis (ALS) often suffer from salivation problems such as drooling and dry mouth. We examined resting salivation rate cross-sectionally in 66 advanced ALS patients with tracheostomy invasive ventilation using a cotton roll method, and investigated clinical factors associated with salivation rate. Resting salivation rate in the patients was well preserved (median value 0.

A Japanese familial ALS patient with autonomic failure and a p.Cys146Arg mutation in the gene for SOD1 (SOD1).

We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p.Cys146Arg mutation in the copper/zinc superoxide dismutase gene (SOD1). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness.

Frequent globular neuronal cytoplasmic inclusions in the medial temporal region as a possible characteristic feature in multiple system atrophy with dementia.

Multiple system atrophy (MSA) is an adult-onset neurodegenerative disease, which is characterized clinically by parkinsonism, cerebellar ataxia and/or autonomic dysfunction, and pathologically by alpha-synuclein-related multisystem neurodegeneration, so-called alpha-synucleinopathy, which particularly involves the striatonigral and olivopontocerebellar systems, with glial cytoplasmic inclusions and neuronal cytoplasmic/nuclear inclusions (NCIs/NNIs). In the recent consensus criteria for the diagnosis of MSA, dementia is described as one of the features not supporting a diagnosis of MSA. However, MSA with dementia has been reported, although the location of the lesion responsible for the dementia remains unclear.

Predictors of impaired communication in amyotrophic lateral sclerosis patients with tracheostomy-invasive ventilation.

Predictors of communication impairment in patients with amyotrophic lateral sclerosis (ALS) using tracheostomy-invasive ventilation (TIV) were investigated. Seventy-six ALS patients using TIV were enrolled and classified into three subgroups of communication ability: patients who could communicate with communication devices (Stage I), patients who had difficulty with communication (Stage II, III, or IV), and patients who could not communicate by any means (Stage V). Predictors of communication impairment were analysed by the Cox proportional hazard model.