Clinical grading diagnosis of disorder of consciousness (DOC) patients relies on behavioral assessment, which has certain limitations. Combining multi-modal technologies and brain-computer interface (BCI) paradigms can assist in identifying patients with minimally conscious state (MCS) and vegetative state (VS). This study collected electroencephalogram (EEG) and functional near-infrared spectroscopy (fNIRS) signals under motor BCI paradigms from 14 DOC patients, who were divided into two groups based on clinical scores: 7 in the MCS group and 7 in the VS group. We calculated event-related desynchronization (ERD) and motor decoding accuracy to analyze the effectiveness of motor BCI paradigms in detecting consciousness states. The results showed that the classification accuracies for left-hand and right-hand movement tasks using EEG were 93.28% and 76.19% for the MCS and VS groups, respectively; the classification precisions using fNIRS were 53.72% and 49.11% for these groups. When combining EEG and fNIRS features, the classification accuracies for left-hand and right-hand movement tasks in the MCS and VS groups were 95.56% and 87.38%, respectively. Although there was no statistically significant difference in motor decoding accuracy between the two groups, significant differences in ERD were observed between different consciousness states during left-hand movement tasks ( P < 0.001). This study demonstrates that motor BCI paradigms can assist in assessing the level of consciousness, with EEG being more sensitive for evaluating residual motor intention intensity. Moreover, the ERD feature of motor intention intensity is more sensitive than BCI classification accuracy.
Humans ; Brain-Computer Interfaces ; Spectroscopy, Near-Infrared/methods* ; Electroencephalography/methods* ; Consciousness Disorders/diagnosis* ; Male ; Movement ; Adult ; Female ; Intention ; Persistent Vegetative State/diagnosis*

OBJECTIVES: To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by GAMT gene mutations. METHODS: A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024. RESULTS: The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the GAMT gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial. CONCLUSIONS GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.
Child ; Female ; Humans ; Male ; Creatine/deficiency* ; Guanidinoacetate N-Methyltransferase/deficiency* ; Intellectual Disability/genetics* ; Mutation ; Retrospective Studies ; Rhabdomyolysis/genetics* ; Language Development Disorders ; Movement Disorders/congenital*

Introduction: We present a patient with long-standing uncontrolled type 2 diabetes mellitus (T2 DM) who developed sudden onset of choreiform movement, which rapidly resolved after insulin therapy and haloperidol. Case Description: A 53-year-old Filipino male, with T2DM and hypertension for more than 10 years, presented with sudden onset of hyperkinetic, involuntary, non-patterned, continuous movements of the left upper and lower extremities. Investigations revealed severe hyperglycemia without acidemia and ketonuria. Cranial computed tomography scan showed hyperdensity on the right caudate and lentiform nuclei. On cranial magnetic resonance imaging, there was T1- weighted hyperintense and T2 - weighted hypointense signal involving the right putamen, globus pallidus and caudate. Cranial magnetic resonance angiography showed stenosis on the cavernous segment of the right internal carotid artery (ICA), left ICA and middle cerebral artery (MCA) junction, the A1 segment of the left anterior communicating artery and proximal P2 segments of the bilateral posterior cerebral arteries. The patient was managed with a basal-bolus insulin regimen to control the blood glucose and haloperidol to manage the extrapyramidal symptoms. Consequently, there was complete resolution of the involuntary movements. Conclusion This case illustrates the importance of a systematic approach to movement disorders and early recognition of this rare diabetes complication known as chorea hyperglycemia basal ganglia syndrome or diabetic striatopathy.
Movement Disorders ; Diabetes Complications

OBJECTIVE: To investigate the effect of miR-22 targeting formin-like protein 2 (FMNL2) on the migration and apoptosis of childhood acute myeloid leukemia (AML) cells. METHOD: Peripheral blood samples from 11 children with AML, 10 children with immune thrombocytopenia, human AML cell lines TF-1a, HL-60, THP-1 and human bone marrow stromal cells HS-5 were used as the research objects. UniCel DxH 800 automatic hematology analyzer detected platelet count, hemoglobin, and white blood cell count in peripheral blood samples, and RT-qPCR detected miR-22 expression in peripheral blood samples and AML cells. HL-60 cells were transfected with Lipofectamine^TM 2000 kit, the experiments were divided into seven groups: blank (no cells transfected), miR-NC, miR-22 mimics, si-NC, si-FMNL2 , miR-22 mimics+OE-NC and miR-22 mimics+OE-FMNL2 . RT-qPCR was used to detect the expression of miR-22 in each group. Transwell was used to detect cell migration. Flow cytometry was used to detect cell apoptosis. Dual-luciferase reporter gene detection experiments verified the targeting relationship between miR-22 and FMNL2 . Western blot was used to detect the expression of FMNL2 protein. RESULTS: Compared with the control group, the number of leukocytes in the peripheral blood of children with AML was significantly increased (P <0.001), while the concentration of hemoglobin and the number of platelets were significantly decreased P <0.001). The expression level of miR-22 in peripheral blood of children with AML was significantly lower than that in control group (P <0.001). Compared with HS-5 cells, the expression levels of miR-22 in TF-1a, HL-60, and THP-1 cells were significantly decreased (P <0.05), and in HL-60 cells was the lowest. Therefore, HL-60 cells were selected for subsequent experiments. Up-regulation of miR-22 or silencing of FMNL2 could reduce the number of migrating cells and increase apoptosis rate (P <0.05). MiR-22 targeted and negatively regulated the expression of FMNL2 . FMNL2 overexpression reversed the effects of up-regulated miR-22 on migration and apoptosis of HL-60 cells. CONCLUSION MiR-22 can inhibit the migration and promote apoptosis of HL-60 cells by down regulating the expression of FMNL2 .
Humans ; Child ; MicroRNAs/metabolism* ; Leukemia, Myeloid, Acute/metabolism* ; Cell Proliferation ; Apoptosis ; Myeloproliferative Disorders ; Cell Movement ; Hemoglobins ; Cell Line, Tumor ; Formins

Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We present the case of a 30-year-old vegan male presenting with tremors on both legs when standing which was relieved by vitamin B12 supplementation. To the best of our knowledge, this is the first documented case of slow orthostatic tremor or pseudo-orthostatic tremor caused by vitamin B12 deficiency.
Vitamin B 12 Deficiency ; Vitamin B 12 ; Vegans ; Movement Disorders ; Tremor ; Electromyography

Background: Due to the Coronavirus disease 2019 (COVID-19) pandemic, non-emergency services like botulinum toxin A (BoNT) injections were temporarily discontinued. Objective: We aimed to create standard practices that optimize the management of patients needing BoNT injections while ensuring both patients' and healthcare professionals' safety. Methods: We evaluated published guidelines and best practices to determine their applicability for BoNT injection during this pandemic. We then devised a decision tree algorithm for use in our hospital. Results: A decision tree algorithm has been formulated based on patient evaluation and risk stratification, triaging, the urgency of the procedure, and proper precautions on personal protective wear as appropriate for the procedure’s risk stratification. Conclusion The algorithm is in place to ensure the safety of both the patient and healthcare professional. It can be adopted and revised by other centers to suit their clinic needs.
Movement Disorders ; COVID-19 ; Botulinum Toxins ; Therapeutics ; Pandemics

This is a case of a 7-year-old Filipino female who presented with undulating movements of the abdomen that occur only while awake, following the initiation of treatment for clinically diagnosed pulmonary tuberculosis. Systemic physical examination was normal. The neurological examination was also unremarkable. The 2-hr video EEG showed no electroencephalographic changes or ictal pattern correlating with the abdominal dyskinesia, highly suggesting a movement disorder. Craniospinal Magnetic Resonance Imaging (MRI) with Gadolinium showed typical results. The patient responded to the trial of carbamazepine after three weeks of treatment with complete resolution of abdominal dyskinesia.
Neurology ; Movement Disorders

The radial migration of cortical pyramidal neurons (PNs) during corticogenesis is necessary for establishing a multilayered cerebral cortex. Neuronal migration defects are considered a critical etiology of neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia, epilepsy, and intellectual disability (ID). TRIO is a high-risk candidate gene for ASDs and ID. However, its role in embryonic radial migration and the etiology of ASDs and ID are not fully understood. In this study, we found that the in vivo conditional knockout or in utero knockout of Trio in excitatory precursors in the neocortex caused aberrant polarity and halted the migration of late-born PNs. Further investigation of the underlying mechanism revealed that the interaction of the Trio N-terminal SH3 domain with Myosin X mediated the adherence of migrating neurons to radial glial fibers through regulating the membrane location of neuronal cadherin (N-cadherin). Also, independent or synergistic overexpression of RAC1 and RHOA showed different phenotypic recoveries of the abnormal neuronal migration by affecting the morphological transition and/or the glial fiber-dependent locomotion. Taken together, our findings clarify a novel mechanism of Trio in regulating N-cadherin cell surface expression via the interaction of Myosin X with its N-terminal SH3 domain. These results suggest the vital roles of the guanine nucleotide exchange factor 1 (GEF1) and GEF2 domains in regulating radial migration by activating their Rho GTPase effectors in both distinct and cooperative manners, which might be associated with the abnormal phenotypes in neurodevelopmental disorders.
Autism Spectrum Disorder/metabolism* ; Cell Movement/genetics* ; Humans ; Interneurons/metabolism* ; Neurodevelopmental Disorders/genetics* ; Neurons/metabolism* ; Rho Guanine Nucleotide Exchange Factors/genetics*

OBJECTIVE: This study aimed to quantitatively define outcomes of corrective surgery in children with various foot deformities. METHODS: We used a retrospective, nonrandomized design. All pediatric patients who underwent pre and post-operative gait analysis and corrective surgery were included. Outcome measures included quantitative gait analysis with temporospatial and kinematic parameters, the Gait Deviation Index, Gillette FAQ, and Hoffer’s criteria. RESULTS:. Five patients with neurogenic and idiopathic deformities underwent corrective surgery at the Philippine General Hospital from 2015 to 2017. Comparison of gait pre and postoperatively show promising outcomes, with improvement in GDI and FAQ levels, despite some of the patients’ need for braces. CONCLUSIONS: Quantitative gait analysis is a suitable method for evaluating surgical outcomes for foot deformity correction. It can be used in combination with functional outcome measures and clinical examination to give an overall picture of a patient’s walking ability.
Gait Analysis ; Clubfoot ; Gait ; Movement Disorders

Functional movement disorders (FMDs), also known as psychogenic movement disorders (PMDs), should be considered a biological-psychological-social disease like other functional neurological diseases. It is not merely a psychological or mental disease. The etiology of FMDs includes neurobiological changes, such as abnormal patterns of cerebral activation and abnormal connectivity between the limbic system and the motor networks. Inheritance and epigenetic machinery, such as DNA methylation and changes in grey and white matter morphology, may influence the development of FMDs. FMDs are not rare in the outpatient service of pediatrics and are one of the most challenging movement disorders due to complex and diversified clinical manifestations. Due to a lack of clinical knowledge and unified diagnostic criteria, it is difficult for pediatricians to make a correct diagnosis of FMDs, which may be easily confused with other diseases. Pediatricians should pay more attention to children with FMDs and establish a multidisciplinary team with psychiatrists, specialists in developmental behavior, and physiotherapists, so as to provide active management and treatment for such children.
Adolescent ; Child ; Humans ; Movement Disorders