Effects of task-based mirror therapy on upper limb motor function in hemiplegia: study protocol for a randomized controlled clinical trial.

BACKGROUND AND PURPOSE: Research to date has lacked definitive evidence to determine whether mirror therapy promotes the recovery of upper extremity function after stroke. Considering that previous studies did not stratify patients based on structural retention, this may be one of the reasons for the negative results obtained in many trials. The goal evaluates the efficacy of TBMT (utilizing an innovatively designed mirror) versus standard occupational therapy for stroke patient's upper limb functionality. METHODS AND ANALYSIS: This single-center randomized controlled trial will involve 50 patients with stroke. All patients will be randomly assigned to either the task-based mirror therapy or the control group. The interventions will be performed 5 days per week for 4 weeks. The primary outcomes will be the mean change in scores on both the FMA-UE and modified Barthel Index (MBI) from baseline to 4 weeks intervention and at 12 weeks follow-up between the two groups and within groups. The other outcomes will include the Action Research Arm Test (ARAT), the Nine Hole Peg Test (9HPT), the Functional Independence Measure, and MRI. DISCUSSION: This trial will not only to establish that task-based mirror therapy (TBMT) could improve the recovery of hand function after stroke but also to explore the underlying mechanisms. We expect that this finding will clarify the brain activation and brain network mechanisms underlying the improvement of hand function with task-oriented mirror therapy and lead to new ideas for stroke hand function rehabilitation. TRIAL REGISTRATION: URL: https://www.chictr.org.cn ; Unique identifier: ChiCTR2300068855. Registered on March 1, 2023.

Familial hemiplegic migraine in Indian children-a tertiary center experience.

Familial hemiplegic migraine (FHM), an autosomal dominant subtype of hemiplegic migraine, is a channelopathy presenting with severe headache, visual field defect, paresthesia, unilateral motor deficit, encephalopathy, seizures and aphasia. This cross-sectional study was conducted over 10 months in children aged 1-18 years suspected of hemiplegic migraine at a tertiary care pediatric hospital. Fourteen children were screened and five children with genetically confirmed FHM were included. The symptoms in the study population were paroxysmal hemiparesis (5/5), headache (5/5) and focal seizures (1/5). The hemiplegia episodes lasted from 4 h to 7 days. The mean age at the onset of neurological symptoms was 6.8 ± 0.7 years and the mean age at diagnosis was 12.8 ± 1.7 years, with a mean delay of 6.1 ± 1.9 years for the diagnosis. Neuroimaging during acute episodes revealed accentuated gray, white differentiation in the contralateral cerebral hemisphere with mild effacement of sulcal spaces in T2/fluid-attenuated inversion recovery (FLAIR) images. Genetic testing revealed ATP1A2 mutations (FHM2) in 4/5 and SCN1A (FHM3) in 1/5 patients. All of them (5/5) were initiated on oral topiramate and had favorable treatment responses with a mean follow-up duration of 7 ± 1.4 months. Diagnosis of FHM is mainly clinical and can be confirmed by genetic analysis. Perfusion and diffusion-weighted MRI should be considered during acute headache episodes, as it is mostly normal in symptom-free periods. Routine MRI sequences like T1 weighted, T2 weighted, FLAIR and contrast remain normal even during acute attacks.

Relationship between motor dysfunction, the respiratory muscles and pulmonary function in stroke patients with hemiplegia: a retrospective study.

BACKGROUND: The interaction between motor dysfunction and respiratory functions in stroke patients with hemiplegia are not fully understood, particularly with regard to the relationship between changes in trunk control, balance, and daily activities, and changes in respiratory muscle strength and pulmonary volume. Investigating this relationship will facilitate the optimization of stroke rehabilitation strategies. METHODS: Clinical history data were collected from 134 patients to analyze the relationship between motor function scales scores and spirometric data. The data from 60 patients' data were used to evaluate the relationship between motor function scales scores and spirometric data at baseline and after 3-weeks rehabilitation. RESULTS: (1) Patients with lower scores on Trunk impairment Scale (TIS), Berg Balance Scale (BBS) and Barthel Index (BI) had weaker respiratory muscle strength and pulmonary function. (2) Stroke patients' BBS and BI scores showed differences between normal and unnormal maximal inspiratory pressure (MIP), but not in TIS. (3) Improvements in motor function led to promotion of enhanced respiratory function. Patient exhibited less MIP improvement at the severe level of TIS and BBS. CONCLUSIONS: Patients with hemiplegia exhibited diminished respiratory muscle strength and pulmonary function at a more severe motor dysfunction level. Impaired inspiratory muscle strength was associated with reduced balance ability and limitations in activities required for daily living. Enhanced motor function improved respiration and rehabilitation programs should prioritize the activation of diaphragm function to improve overall outcomes.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense variant in ATP1A3 encoding the catalytic α3 subunit of neuronal Na+/K+ ATPases. The remainder of the patients are genetically unexplained. Here, we used next-generation sequencing to search for the genetic cause of 26 ATP1A3-negative index patients with a clinical presentation of AHC or an AHC-like phenotype. Three patients had affected siblings. Using targeted sequencing of exonic, intronic, and flanking regions of ATP1A3 in 22 of the 26 index patients, we found no ultra-rare variants. Using exome sequencing, we identified the likely genetic diagnosis in 9 probands (35%) in five genes, including RHOBTB2 (n = 3), ATP1A2 (n = 3), ANK3 (n = 1), SCN2A (n = 1), and CHD2 (n = 1). In follow-up investigations, two additional ATP1A3-negative individuals were found to have rare missense SCN2A variants, including one de novo likely pathogenic variant and one likely pathogenic variant for which inheritance could not be determined. Functional evaluation of the variants identified in SCN2A and ATP1A2 supports the pathogenicity of the identified variants. Our data show that genetic variants in various neurodevelopmental genes, including SCN2A, lead to AHC or AHC-like presentation. Still, the majority of ATP1A3-negative AHC or AHC-like patients remain unexplained, suggesting that other mutational mechanisms may account for the phenotype or that cases may be explained by oligo- or polygenic risk factors.

Spasticity assessment with muscle coactivation of elbow flexors during passive stretch in Post-stroke Hemiplegia.

the assessment of muscle properties is an essential prerequisite in the treatment of post-stroke muscle spasticity. Previous studies have shown that muscle coactivation, which reflects the simultaneous activation of agonist and antagonist muscle groups, is associated with muscle spasticity during voluntary contraction. However, current spasticity assessment approaches do not often consider muscle coactivation for passive contraction measured with surface electromyography (sEMG). The purpose here is to evaluate the validity and reliability of muscle co-activation based on sEMG for assessing spasticity of post-stroke patients. This study was conducted on 39 chronic hemiplegia post-stroke patients with varying degrees of elbow flexor spasticity. The severity of spasticity was assessed with Modified Ashworth Scale (MAS). The patients produced elbow flexion passively on affected arm. Two-channel surface sEMG recordings were acquired simultaneously for the biceps and triceps muscles. The effectiveness and reliability of the EMG-based spasticity assessment method were evaluated using Spearman's correlation analysis and intra class correlation coefficients (ICCs). The results showed that there was a statistically significant positive relationship between the level of activity and the coactivation index (R=0.710, P=0.003), while the ICCs for intra trial measures ranged between 0.928 and 0.976. Muscle coactivation is a promising tool for continuously quantifying muscle spasticity in post-stroke patients, suggesting that the EMG-based muscle coactivation index could be useful for assessing motor function.

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.

Here, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare neurodevelopmental disorders. We describe a systematic multistep approach in which we first identified the relevant questions about alternating hemiplegia of childhood natural history and expected challenges. Then, based on our experience with alternating hemiplegia of childhood and on pragmatic literature searches, we identified solutions to determine appropriate methods to address these questions. Specifically, these solutions included development and standardization of alternating hemiplegia of childhood-specific spell video-library, spell calendars, adoption of tailored methodologies for prospective measurement of nonparoxysmal and paroxysmal manifestations, unified data collection protocols, centralized data platform, adoption of specialized analysis methods including, among others, Cohen kappa, interclass correlation coefficient, linear mixed effects models, principal component, propensity score, and ambidirectional analyses. Similar approaches can, potentially, benefit in the study of other rare pediatric neurodevelopmental disorders.

Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.

BACKGROUND: Developing methods to record Alternating Hemiplegia of Childhood (AHC) spells is essential for clinical trials and patient care. OBJECTIVES: Test the following hypotheses: 1) Video-library training improves participants' ability to correctly identify AHC spells. 2) A custom-designed event-calendar with weekly reviews results in consistent documentation of such events over time. 3) Use of an electronic diary (e-Diary) to register events is a useful tool. METHODS: 1) A video-library of AHC type spells was developed along with specific training; the effect of the training was tested in 36 caregivers. 2) An event-calendar was similarly developed and provided to 5 caregivers with weekly videoconference meetings for 8 weeks. 3) An e-Diary was developed and offered to 33 patients; time of usage and caregivers' feedback (telephone interview) were analyzed. RESULTS: 1) Video-library training: Wilcoxon test showed improvement in caregiver identification of spells (p = 0.047), Cohen's Kappa demonstrated high degree of agreement between caregivers'-experts' classifications (>0.9). 2) Event-calendar: 96.42% of entries had complete information; this did not change during follow up (p = 0.804). 3) e-Diary: whereas 52% of respondents used the e-Diary when offered (duration: 10.5 ± 8.1 months), 96.3% indicated they would use it in future studies. Those who used it for 13 months, were very likely to use it during the rest of that year. CONCLUSIONS: Video-library training improved spell identification. Calendar with weekly reviews resulted in a sustained and consistent record keeping. Caregivers' e-Diary feedback was encouraging with long-term usage in many. These approaches could be helpful for AHC and, potentially, in similar disorders.

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.

OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started a year ago January 2021 in King Faisal Specialist Hospital and Research Centre, Riyadh, KSA. This has been cleared for publication by the Office of Research Affairs, and the Publication Number is 2225429. RESULTS: Five females and 2 males had onset ages of 0-3 years (mean=18 months). All had some degree of intellectual dysfunction, 6 had seizures (85%), 4 had neurologic abnormalities, 1 had autistic features and one had mild dystonia. CONCLUSION: Our small-cohort observations confirm that ATP1A3 mutations express a wide range of phenotypes, usually including some degree of cognitive-behavioral dysfunction (100% of patients), seizures (85% of patients), and AHC (71% of patients). Moreover, they further expand the evolving allelic spectrum of these disorders by identifying 3 novel mutations.

Hemiplegic Migraine.

PURPOSE OF REVIEW: In this article, we review recent updates to the epidemiology, diagnostic testing, genetics, pathophysiology, and management of hemiplegic migraine. RECENT FINDINGS: While three genes have been historically associated with hemiplegic migraine, recent studies suggest two additional genes may also be implicated including PPRT2 and SLC1A3. Hemiplegic migraine is a severe subset of migraine with aura with symptoms including reversible hemiparesis in addition to other aura symptoms such as visual, sensory, or speech. The exact pathophysiology of hemiplegic migraine is not clear, but it is thought that this phenomenon is due to neuronal and glial depolarization causing cortical spreading depression. Due to the severity of presentation as well as the numerous mimickers, it is important to know a comprehensive differential and work-up. Given the low prevalence of the disease, most studies regarding treatment are limited to case studies. There is still an important need for further and larger studies regarding management of these cases.

Inter- and intra-rater reliability of new application software for computerised paediatric version of Wisconsin Gait Scale.

The paediatric version of Wisconsin Gait Scale (WGS) is a reliable tool for gait assessment in children with spastic hemiplegic cerebral palsy (CP). We decided to develop a solution which will make it possible to objectify the descriptive paediatric version of the WGS, and which, consequently, will allow researchers/clinicians to more easily perform accurate assessment of gait patterns in patients. The aim of the study was to assess inter- and intra-rater reliability of new application software for computerised paediatric version of the WGS in children with hemiplegic CP. The study involved 31 children with hemiplegic CP. The app was designed using a model based on thematic categories of the paediatric WGS, and utilising auxiliary lines between specific points on the patient's body, and taking into account angular values, duration and length of the specific gait phases, in order to enable acquisition of quantitative data corresponding to the components of the WGS. The gait of the study participants was recorded, in series of videos. These provided material for three independent raters who reviewed the recordings twice and assessed the participants' gait using the app. After the evaluation was completed, the data were retrieved from the software. The new application software for the computerised paediatric WGS presents very good inter- and intra-rater reliability. Intra-class correlation coefficient (ICC) was very high in measurement 1 (ICC > 0.9) and 2 (ICC > 0.8), which reflects a very high degree of agreement between the three examiners; there was also high agreement for the specific examiners, between the two measurements (ICC > 0.9). The observational gait scale, objectified through the new software, and enabling computer-aided use of the paediatric WGS, presents practical advantages for examiners since it facilitates decisions taken in the process of WGS-based assessment in children with spastic hemiplegic CP.

Can the Shriners Hospital Upper Extremity Evaluation (SHUEE) Detect Change in Dynamic Position and Spontaneous Function of the Upper Limb in People With Hemiplegic Cerebral Palsy?

BACKGROUND: The Shriners Hospital Upper Extremity Evaluation (SHUEE) is a video-based measure designed to assess upper extremity function in people with cerebral palsy (CP). The SHUEE completes both dynamic positional analysis (DPA; position during functional activities) and spontaneous functional analysis (spontaneous use of the involved limb). Although the SHUEE has been suggested as a measure for planning upper limb interventions and evaluating outcomes, limited evidence of its ability to detect change exists. Thus, this study aimed to describe responsiveness of the SHUEE to detect change after orthopaedic surgery. METHODS: In this Institutional Review Board-approved retrospective cohort study, we identified children with CP who were administered SHUEE on≥2 encounters. We formed pairs of initial and follow-up visits between temporally adjacent visits. Pairs were assigned to a surgery or non-surgery group based on intervening upper limb orthopaedic surgery. We compared differences in baseline SHUEE scores between groups and differences in temporally adjacent SHUEE scores within groups using Welch unequal variances t tests and paired t tests, respectively. RESULTS: Nineteen people (7 female) with hemiplegic CP had≥2 SHUEE assessments; Manual Ability Classification System levels I (3), II (8), III (7), IV (1); Gross Motor Function Classification System levels I (10), II (7), IV (2); mean age at baseline 11.9 (5.1 to 19.1) years; and follow-up at 13.4 (5.5 to 19.7) years. Six people had≥2 visits leading to 14 surgical pairs and 10 non-surgical pairs. At baseline, DPA of the wrist and forearm were significantly lower in the surgical group ( P <0.05). At follow-up, no significant difference between the groups existed in DPA measures ( P >0.05). After surgical intervention, there was a significant change in overall and wrist DPA ( P <0.05). CONCLUSIONS: The DPA measures demonstrated responsiveness to expected positional changes in the arm after orthopaedic surgery in people with CP. The SHUEE was useful in identifying abnormal segmental alignment pre-surgically and documenting changes in alignment postoperatively. As orthopaedic surgery does not address limb neglect or bimanual ability, spontaneous functional analysis scores were as expected-unchanged. LEVEL OF EVIDENCE: Level III, retrospective cohort study.

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na+/K+-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data. Eleven patients were identified with de novo pathogenic ATP1A3 heterozygous variants. One (c.2542 + 1G > T, splicing) has not been reported. Eight patients with alternating hemiplegia of childhood (AHC), one with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), and two with relapsing encephalopathy with cerebellar ataxia (RECA) were included. The initial manifestations of AHC included hemiplegia, oculomotor abnormalities, and seizures, and the most common trigger was an upper respiratory tract infection without fever. All patients had paroxysmal hemiplegic attacks during their disease course. The brain MRI showed no abnormalities. Six out of eight AHC cases reached a stable disease state after treatment. The initial symptom of the patient with CAPOS was ataxia followed by developmental regression, seizures, deafness, visual impairment, and dysarthria, and the brain MRI indicated mild cerebellar atrophy. No fluctuation was noted after using Acetazolamide. The initial manifestations of the two RECA cases were dystonia and encephalopathy, respectively. One manifested a rapid-onset course of dystonia triggered by a fever followed by dysarthria and action tremors, and independent walking was impossible. The brain MRI image was normal. The other one presented with disturbance of consciousness, seizures, sleep disturbance, tremor, and dyskinesias. The EEG revealed a slow background (δ activity), and the brain MRI result was normal. No response to Flunarizine was noted for them, and it took 61 and 60 months for them to reach a stable disease state, respectively. CONCLUSION: Pathogenic ATP1A3 variants play an essential role in the pathogenesis of Sodium-Potassium pump disorders, and AHC is the most common phenotype. The treatment strategies and prognosis depend on the phenotype categories caused by different variation sites and types. The correlation between the genotype and phenotype requires further exploration. WHAT IS KNOWN: • Pathogenic heterozygous ATP1A3 variants cause a spectrum of neurological phenotypes, and ATP1A3-disorders are viewed as a phenotypic continuum presenting with atypical and overlapping features. • The genotype-phenotype correlation of ATP1A3-disorders remains unclear. WHAT IS NEW: • In this study, the genotypes and phenotypes of ATP1A3-related disorders from Southwest of China were described. The splice-site variation c.2542+1G>T was detected for the first time in ATP1A3-related disorders. • The prognosis of twins with AHC p. Gly947Arg was more serious than AHC cases with other variants, which was inconsistent with previous reports. The phenomenon indicated the diversity of the correlation between the genotype and phenotype.

Proyecto REFILAB: Un caso clínico de una hemiplejía secundaria a glioblastoma temporal izquierdo intervenido en Medicina del Trabajo / REFILAB project: a clinical case of hemiplegia secondary to glioblastoma in the left temporal region treated in occupational medicine

REFILAB es un proyecto novedoso aplicado en la medicina laboral para la prevención y readaptación física funcional de los trabajadores de una empresa, que sigue el modelo de intervención de la lesión deportiva. El objetivo del estudio fue analizar los efectos del proyecto REFILAB sobre la aptitud física relacionada con la salud en un trabajador con diagnóstico de hemiplejia derecha secundaria a glioblastoma temporal izquierdo intervenido. El caso clínico fue un hombre de 46 años, operario de limpieza viaria y recogida de residuos de una empresa de servicios urbanos. El trabajador fue intervenido durante 4 meses con REFILAB para combatir las secuelas de su enfermedad. Después de 4 meses de intervención, el trabajador mejoró consideradamente los valores de fuerza, flexibilidad, neuromotor y resistencia. El trabajador con diagnóstico de hemiplejia derecha secundaria a glioblastoma temporal izquierdo intervenido incrementó su autonomía en las actividades de la vida diaria e instrumentales básicas. (AU)

REFILAB is a novel occupational health project for the prevention and functional physical readaptation of workers in a company, following the model of intervention in sports injuries. The aim of the present study was to analyse the effects of the REFILAB project on health-related physical fitness in a subject diagnosed with brain cancer and right hemiplegia. The clinical case involved a 46-year-old man who worked for a municipal service company in street cleaning and refuse collection. The patient was treated with the REFILAB programme for 4 months to combat the sequelae of his disease. After the 4-month intervention, the worker significantly improved his strength, flexibility, neuromotor and endurance values. The worker, who was diagnosed with right hemiplegia as a result of a glioblastoma in the left temporal area, was able to increase his independence in activities of daily living and basic instrumental activities. (AU)

Gait evaluation in stroke hemiplegic patients using short physical performance battery.

OBJECTIVES: Falls can occur daily in stroke patients and appropriate independence assessments for fall prevention are required. Although previous studies evaluated the short physical performance battery (SPPB) in stroke patients, the relationship between SPPB and fall prediction and walking independence remains unclear. Therefore, we aimed to verify whether SPPB is a predictor of walking independence. MATERIALS AND METHODS: The present study included 105 hemiplegic stroke patients who were admitted to the rehabilitation ward and gave consent to participate. Cross-sectional physical function and functional independence measure cognitive (FIM-C) evaluation were conducted in hemiplegic stroke patients. Logistic regression analysis using the increasing variable method (likelihood ratio) was performed to extract factors for walking independence. Cutoff values were calculated for the extracted items using the receiver operating-characteristic (ROC) curve. RESULTS: Among 86 participants included in the final analysis, 36 were independent walkers and 50 were dependent walkers. In the logistic regression analysis, SPPB and FIM-C were extracted as factors for walking independence. The cutoff value was 7 [area under the curve (AUC), 0.94; sensitivity, 0.83; specificity, 0.73)] for SPPB and 32 (AUC, 0.83; sensitivity, 0.69; specificity, 0.57) for FIM-C in ROC analysis CONCLUSIONS: SPPB and FIM-C were extracted as factors for walking independence. Although SPPB alone cannot determine independent walking, combined assessment of SPPB with cognitive function may enable more accurate determination of walking independence.

[Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene]. / Hemiplejía Alternante de la Infancia asociada a variante patogénica del gen ATP1A3.

INTRODUCTION: Alternating hemiplegia of childhood (AHC), is a rare disease characterized by episodes of hemi/quadriplegia, dystonic postures, abnormal eye movements, and movement disorders. ATP1A3 gene mu tations are the most frequently associated with AHC. OBJECTIVE: To present a clinical case of AHC, where genetic study and the observation of home videos were of great diagnostic utility. CLINICAL CASE: Female patient who at 3 months of age presented with several episodes of dystonic postures, clonic movements of extremities, cephalic version, and lateral gaze deviation lasting several minutes. Epilepsy was diagnosed and levetiracetam was administrated, without improvement. EEG and brain MRI were performed, with normal results. Therefore, epilepsy was ruled out and transient dystonia of infancy was suspected, however, the events became more frequent, longer in duration, and charac teristically subsided during sleep. Family members provided home videos that clarified the events. At 6 months of age, the patient presented with alternating hemiparesis. Dystonia genetic panel showed a pathogenic variant of the ATP1A3 gene, confirming the diagnosis. Flunarizine treatment was ini tiated with a good clinical response at 12 months of follow-up. CONCLUSIONS: The diagnosis of AHC is complex and is frequently confused with epilepsy, so it is important to correctly perform the diffe rential diagnosis, including anamnesis, tests such as EEG, and careful observation of clinical events that, with the current access to audiovisual technology, becomes more accurate. The genetic analysis is a great diagnostic tool that, when performed in time, avoids other unnecessary tests and therapies.

Primary angiitis of the central nervous system and reversible cerebral vasoconstriction syndrome: analysis of the National Inpatient Sample.

INTRODUCTION: Primary angiitis of the central nervous system (PACNS) and reversible cerebral vasoconstriction syndrome (RCVS) are two rare syndromes that affect the cerebral vasculature. Both conditions have been shown to cause severe neurologic complications. Distinguishing these two conditions in clinical practice is often challenging. Here, we compare the clinical features and outcomes of RCVS and PACNS hospitalizations against the general adult inpatient population. MATERIALS AND METHODS: We conducted a retrospective review of hospitalizations with a diagnosis of PACNS or RCVS from 2016 to 2018 in the National Inpatient Sample (NIS) database. Multivariate analysis was performed to calculate adjusted odds ratios (ORadj) for hospital outcomes. RESULTS: In the NIS, 3305 hospitalizations had a diagnosis of RCVS and 6035 hospitalizations had a diagnosis of PACNS. RCVS hospitalizations had a significantly greater association with cerebral aneurysms (ORadj 23.80), hemiplegia/hemiparesis following subarachnoid hemorrhage (SAH) (ORadj 324.09), ischemic stroke (ORadj 7.59), and nontraumatic SAH (ORadj 253.61). PACNS hospitalizations had a significantly greater association with hemiplegia/hemiparesis following cerebrovascular accident (CVA) (ORadj 6.16), ischemic stroke (ORadj 11.55), nontraumatic SAH (ORadj 7.29), seizure (ORadj 2.49), and in-hospital mortality (ORadj 2.85). CONCLUSIONS: We performed an analysis of the NIS to better understand RCVS and PACNS hospitalizations. Severe neurologic events including CVA and SAH were elevated in both, but SAH and related hemiplegia/hemiparesis were extremely common among RCVS hospitalizations. In-hospital mortality was elevated in PACNS but not RCVS. This information can be used to help clinicians better understand, distinguish, and diagnose these conditions. Key Points • Despite clear description of RCVS and PACNS in the medical literature, there remains a scarcity of national population-based studies comparing these two entities against the general adult inpatient population. • This study aims to fill knowledge gaps in this area. • Here, we compare the clinical features and outcomes of RCVS and PACNS hospitalizations against the general adult inpatient population.

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

BACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. CASE PRESENTATION: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. CONCLUSIONS: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity.

14-month-old girl with prolonged fever, a desquamative rash, and a new left hemiplegia.

A young child with fever, erythematous rash, and conjunctivitis in sub-Saharan Africa is usually a case of measles. We report a-14-month-old girl with a prolonged fever, a desquamating erythematous rash, and a new left hemiplegia. This was initially diagnosed as measles but her correct final diagnosis was Kawasaki disease (KD); she very rapidly defervesced and regained normal function of her limbs after appropriate treatment. We believe this is the first reported case in Liberia of KD in a child younger than two years of age.

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.