Alien hand syndrome (AHS) is an uncommon neurological condition characterized by involuntary, yet seemingly purposeful, movements of a limb, typically an upper extremity, with variable awareness and control by the affected individual. It is associated with a range of peculiar sensations, such as the feeling of limb estrangement, alien control and involuntary mirroring or restraining of movements. AHS indicates a profound disruption in volitional motor control and personal agency. The aetiology of AHS is the dysfunction of critical brain regions secondary to diverse neurological insults, such as tumours, vascular disorders, infarction or neurodegenerative diseases. It is clinically categorized into the parietal and callosal types, depending on the affected region, with manifestations often linked to the specific brain region affected. The callosal type is particularly challenging to diagnose due to its rarity and potential for nonspecific or concealed symptoms amid concurrent brain injuries. Distinguishing AHS from psychiatric disorders is crucial for accurate diagnosis and improved patient outcomes. Further research is imperative for a deeper understanding of the pathophysiology of AHS and the development of effective treatments. AHS predominantly affects adults and is frequently associated with multiple comorbidities. The syndrome is also exemplified by three distinct motor behaviours: Involuntary grasping, inter‑manual conflict and limb levitation accompanied by the sensation of an alien limb or the perception of external control over one's movements. It has a generally good prognosis with partial or total recovery following appropriate rehabilitation techniques, including pharmacological and psychological measures.
Pathogenic variants in the NEXMIF gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. However, the role of NEXMIF in specific epileptic syndromes remains insufficiently explored. We present the case of an 11.9-year-old Romanian girl diagnosed with ASD, attention-deficit/hyperactivity disorder (ADHD), mild ID, and Jeavons syndrome (generalized epilepsy characterized by eyelid myoclonia, absence seizures, and photosensitivity). Genetic testing identified a pathogenic NEXMIF variant: c.1882C>T (p.Arg628*), a pathogenic variant rarely reported in the literature, with only two documented cases to date. To better understand the genotype–phenotype correlation, we conducted a systematic review of NEXMIF-associated disorders and compared our findings with previously reported cases. Our analysis suggests that NEXMIF variants may contribute to a broader spectrum of epileptic syndromes, including photosensitive epilepsy such as Jeavons syndrome. This highlights the need for a greater awareness of atypical seizure presentations in individuals with NEXMIF-related disorders. This study underscores the importance of genetic testing in individuals with overlapping ASD and epilepsy phenotypes as early diagnosis may facilitate targeted therapeutic interventions and genetic counseling. Further research is needed to clarify the molecular mechanisms linking NEXMIF dysfunction to epileptic syndromes and neurodevelopmental disorders.
14 May 2021 in Experimental and Therapeutic Medicine
Schizophrenia, one of the most common psychiatric disorders, with a worldwide annual incidence rate of approximately 0.3‑0.7%, known to affect the population below 25 years of age, is persistent throughout lifetime and includes people from all layers of society. With recent technological progress that allows better imaging techniques, such as the ones provided by computed tomography and particularly magnetic resonance imaging (MRI), research on schizophrenia imaging has grown considerably. The purpose of this review is to establish the importance of using imaging techniques in the early detection of brain abnormalities in patients diagnosed with schizophrenia. We reviewed all articles which reported on MRI imaging in schizophrenia. In order to do this, we used the PubMed database, using as search words ‘MRI’ and ‘schizophrenia’. MRI studies of first episode patients and chronic patients, suggest reduction of the whole brain volume. Enlargement of lateral ventricles was described as positive in 15 studies out of 19 and was similar to findings in chronic patients. Moreover, for the first episode patients, all data collected point to important changes in medial temporal lobe structures, diminished hippocampal volume, the whole frontal lobe, asymmetry in prefrontal cortex, diminished volume in cingulate, corpus callosum, and cavum septum pellucidum reported abnormalities. MRI is recommended as an important tool in the follow‑up process of patients with schizophrenia. Yet, it is still under debate whether the abnormalities described in this condition are able to be used as diagnostic biomarkers.
(1) Background: Neurological Soft Signs (NSS) are subtle neurological abnormalities that are more common in schizophrenia patients than in healthy individuals and have been regularly observed in neuroleptic-naive first-episode patients, supporting the hypothesis that they are an intrinsic component of schizophrenia. (2) Methods: a review of articles published in the last ten years (from January 2013 to January 2023) was carried out on articles published in ScienceDirect and PubMed, by following the PRISMA Statement extension for scoping reviews (PRISMA-ScR), which evaluated the impact of NSS in correlation with the symptomatology, neuroleptic treatment, and the cerebral structural changes of patients with schizophrenia. (3) Results: thirty articles were included, among them twelve included MRI structural evaluation and four studies with a longitudinal design. (4) Conclusions: interest in researching NSS has increased in recent years, but questions remain about their origin and relationship to schizophrenia symptoms, thus this study aims to fill in information gaps in the hope that future research will help provide individualized treatment. It is suggested that NSS in schizophrenia might have an inherited genetic relationship pattern, thus being in line with a trait viewpoint. Most of the research revealed that schizophrenia patients had higher NSS scores than healthy controls, however, they were rather similar to their first-degree relatives, thus, also arguing in favor of a trait perspective. The greatest improvement in scores is seen in those with a remitting course, as shown by declining NSS ratings concurrent with symptomatology.
The aim of this analysis was to investigate the socio-demographic and clinical profile, the effectiveness, and the association of pharmacological treatment in patients who underwent electroconvulsive therapy during the last 10 years in the largest psychiatric hospital in Romania. This study includes 249 patients aged between 18 and 73 years old. Recurrent depression was the most frequent diagnosis for which ECT was performed (T = 96, 38.55%), followed by schizophrenia (T = 72, 28.91%). The most frequent indication for ECT was treatment resistance (T = 154, 61.84%), followed by persistent suicidal ideation (T = 54, 21.68%) and catatonia (T = 42, 16.86%). In 111 (44.60%) cases included in this study, re-hospitalization was required after performing ECT, while 138 (55.40%) participants did not require any further hospital readmissions. Significant differences were found between these groups in terms of socio-demographic data, diagnosis, number of ECT sessions performed, and association of psychotropic medication during and after the procedure, therefore two separate patient profiles were found based on these characteristics. Patients necessitating re-hospitalization post-ECT were mainly males aged 25–44 diagnosed with schizophrenia and underwent a greater number of ECT sessions (7–12), whereas those not requiring re-hospitalization were predominantly females aged 45–64 with recurrent depressive disorder for which 4–6 ECT sessions were performed.
The coronavirus pandemic has had a global impact on both mental and physical health. Caregiving has become more difficult during this time due to the quick spread of this respiratory disease, dread of the unknown, congested hospitals, and many restrictions, particularly for people with multiple comorbidities. We aimed to assess the impact of this pandemic on a group of caregivers of patients with dementia and their needs during this time. The study’s findings indicate that females assumed the role of the caregiver more often than men (88.5% of the participants) and scored lower on the life quality scale. The most often issue encountered during the pandemic was difficulty in accessing health care facilities (36%). Participants with a higher education level scored better in the physical (24.67, p = 0.01 and 24.48, p = 0.01) and mental health (20.67, p = 0.002; 19,82, p = 0.008) domains of the life quality test. The fear of COVID questionnaire showed a low level of concern in the category of participants with a high education level. Overall, this pandemic emphasizes the importance of social interaction and the possibilities to improve health care services through telemedicine. Caregivers could benefit from socialization and support programs as well as the early detection of affective disorders.