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Brain : a Journal of Neurology Nov 2023Cerebellar mutism syndrome is a disorder of speech, movement and affect that can occur after tumour removal from the posterior fossa. Projections from the fastigial...
Cerebellar mutism syndrome is a disorder of speech, movement and affect that can occur after tumour removal from the posterior fossa. Projections from the fastigial nuclei to the periaqueductal grey area were recently implicated in its pathogenesis, but the functional consequences of damaging these projections remain poorly understood. Here, we examine functional MRI data from patients treated for medulloblastoma to identify functional changes in key brain areas that comprise the motor system for speech, which occur along the timeline of acute speech impairment in cerebellar mutism syndrome. One hundred and twenty-four participants, all with medulloblastoma, contributed to the study: 45 with cerebellar mutism syndrome, 11 patients with severe postoperative deficits other than mutism, and 68 without either (asymptomatic). We first performed a data-driven parcellation to spatially define functional nodes relevant to the cohort that align with brain regions critical for the motor control of speech. We then estimated functional connectivity between these nodes during the initial postoperative imaging sessions to identify functional deficits associated with the acute phase of the disorder. We further analysed how functional connectivity changed over time within a subset of participants that had suitable imaging acquired over the course of recovery. Signal dispersion was also measured in the periaqueductal grey area and red nuclei to estimate activity in midbrain regions considered key targets of the cerebellum with suspected involvement in cerebellar mutism pathogenesis. We found evidence of periaqueductal grey dysfunction in the acute phase of the disorder, with abnormal volatility and desynchronization with neocortical language nodes. Functional connectivity with periaqueductal grey was restored in imaging sessions that occurred after speech recovery and was further shown to be increased with left dorsolateral prefrontal cortex. The amygdalae were also broadly hyperconnected with neocortical nodes in the acute phase. Stable connectivity differences between groups were broadly present throughout the cerebrum, and one of the most substantial differences-between Broca's area and the supplementary motor area-was found to be inversely related to cerebellar outflow pathway damage in the mutism group. These results reveal systemic changes in the speech motor system of patients with mutism, centred on limbic areas tasked with the control of phonation. These findings provide further support for the hypothesis that periaqueductal grey dysfunction (following cerebellar surgical injury) contributes to the transient postoperative non-verbal episode commonly observed in cerebellar mutism syndrome but highlights a potential role of intact cerebellocortical projections in chronic features of the disorder.
Topics: Humans; Medulloblastoma; Speech; Mutism; Cerebellar Neoplasms; Cerebellum; Cerebellar Diseases; Mesencephalon; Postoperative Complications
PubMed: 37343136
DOI: 10.1093/brain/awad209 -
Children (Basel, Switzerland) Dec 2023Hearing loss is the most common sensory deficit and one of the most common congenital abnormalities. The estimated prevalence of moderate and severe hearing loss in a... (Review)
Review
Hearing loss is the most common sensory deficit and one of the most common congenital abnormalities. The estimated prevalence of moderate and severe hearing loss in a normal newborn is 0.1-0.3%, while the prevalence is 2-4% in newborns admitted to the newborn intensive care unit. Therefore, early detection and prompt treatment are of utmost importance in preventing the unwanted sequel of hearing loss on normal language development. The problem of congenital deafness is today addressed on the one hand with hearing screening at birth, on the other with the early (at around 3 months of age) application of hearing aids or, in case of lack of benefit, by the cochlear implant. Molecular genetics, antibody tests for some viruses, and diagnostic imaging have largely contributed to an effective etiological classification. A correct diagnosis and timely fitting of hearing aids or cochlear implants is useful for deaf children. The association between congenital deafness and "mutism", with all the consequences on/the consideration that deaf mutes have had since ancient times, not only from a social point of view but also from a legislative point of view, continued until the end of the nineteenth century, with the development on one side of new methods for the rehabilitation of language and on the other of sign language. But we need to get to the last decades of the last century to have, on the one hand, the diffusion of "universal newborn hearing screening", the discovery of the genetic causes of over half of congenital deafness, and on the other hand the cochlear implants that have allowed thousands of children born deaf the development of normal speech. Below, we will analyze the evolution of the problem between deafness and deaf-mutism over the centuries, with particular attention to the nineteenth century.
PubMed: 38255364
DOI: 10.3390/children11010051 -
BJPsych Bulletin Aug 2023Catatonia has been increasingly described in cases of COVID-19; we therefore aimed to investigate the evidence for catatonia in patients with COVID-19. We searched... (Review)
Review
AIMS AND METHOD
Catatonia has been increasingly described in cases of COVID-19; we therefore aimed to investigate the evidence for catatonia in patients with COVID-19. We searched PubMed, EMBASE, PsycINFO, BIN and CINAHL databases for articles published in English, from the initial descriptions of the COVID-19 pandemic to January 2022.
RESULTS
A total 204 studies were identified, 27 (13%) of which met the inclusion criteria. The evidence available was based on case reports. The articles included in this review identified a total of 42 patients, ranging from the ages of 12 to ≥70 years, with confirmed or possible catatonia during or after a COVID-19 infection.
CLINICAL IMPLICATIONS
This review provides valuable information to clinicians in medical practice for treating patients with COVID-19, and a foundation for further research for this uncommon syndrome of COVID-19.
PubMed: 35670192
DOI: 10.1192/bjb.2022.30 -
Behavioural Brain Research Feb 2024Over the preceding years, music therapy has gained tremendous attention due to new findings of music in management of various conditions like Alzheimer's, depression,... (Review)
Review
Over the preceding years, music therapy has gained tremendous attention due to new findings of music in management of various conditions like Alzheimer's, depression, anxiety, insomnia, etc. Music is a non-invasive, patient-friendly and pleasant form of therapy with minimal or no side effects. It activates the reward pathway of brain by influencing several processes such as dopamine release, reduction in cortisol levels, increase in estrogen and testosterone levels. This review article focuses on advantages and disadvantages of music therapy, mechanism of action of music in brain and its effective applications in the management of different diseases. The article covers history of music therapy in America, Egypt, and India with practice of music therapy. The advanced effects of music therapy in autism, cancer, post-operative pain, Parkinson's disease, selective mutism, stroke, heart problems, pregnancy, eating disorders, bone fractures and obsessive compulsive disorders are discussed. Also the effect of music therapy on the quality of sleep and brain waves has been discussed. This is an established profession in western countries like America, UK, Australia, and Canada, but not in low-income countries like India where it needs to be standardized.
Topics: Pregnancy; Female; Humans; Music Therapy; Anxiety; Emotions; Music; Obsessive-Compulsive Disorder
PubMed: 37944563
DOI: 10.1016/j.bbr.2023.114750 -
Child's Nervous System : ChNS :... Oct 2023Central nervous system (CNS) embryonal tumors, commonly found in pediatric patients, represent a heterogeneous mix of lesions with an overall poor (though improving)... (Review)
Review
Central nervous system (CNS) embryonal tumors, commonly found in pediatric patients, represent a heterogeneous mix of lesions with an overall poor (though improving) prognosis. Medulloblastomas are by far the most frequently encountered and most widely studied subtype, though others include atypical teratoid/rhabdoid tumors (AT/RTs), embryonal tumor with multilayered rosettes (ETMRs), and CNS neuroblastomas, FOX-R2 activated. The classification, diagnosis, and treatment of these lesions have evolved drastically over the years as their molecular underpinnings have been elucidated. We describe the most recent 2021 WHO Classification system, discuss current understanding of the genetic basis, and demonstrate current thinking in treatment for these highly complex tumors. Since surgical resection continues to remain a mainstay of treatment, preventing and managing surgical complications, especially cerebellar mutism syndrome (CMS), is paramount. We describe the current theories for the etiology of CMS and two centers' experience in mitigating its risks. As our surgical toolbox continues to evolve along with our understanding of these tumors, we hope future patients can benefit from both improved overall survival and quality of life.
Topics: Child; Humans; Medulloblastoma; Mutism; Quality of Life; Central Nervous System Neoplasms; Neoplasms, Germ Cell and Embryonal; Cerebellar Diseases; Cerebellar Neoplasms
PubMed: 37632526
DOI: 10.1007/s00381-023-06112-x -
Practical Neurology Feb 2024A 30-year-old woman had 5 days of visual hallucinations, nystagmus, memory impairment and mutism. On examination, she was disorientated with reduced attention span,...
A 30-year-old woman had 5 days of visual hallucinations, nystagmus, memory impairment and mutism. On examination, she was disorientated with reduced attention span, gaze-evoked nystagmus, paratonia and abnormal frontal reflexes. Cerebrospinal fluid (CSF) showed 80 cells, protein 0.41 g/L and glucose 3.2 mmol/L (plasma glucose 5.0 mmol/L). MR scan of the brain showed involvement of limbic and extra-limbic regions and brainstem. Commercial cell-based assays were negative, but tissue-based assays showed neuropil staining, and cell-based assays for anti-metabotropic glutamate receptor 5 (mGluR5) antibodies were positive in serum and CSF. Six months later, she was diagnosed with Hodgkin's lymphoma. This case emphasises the broader clinical spectrum of anti-mGluR5 encephalitis, challenging its initial characterisation as Ophelia syndrome. It underscores the significance of interpreting commercial cell-based assays and advocates for tissue-based assay testing followed by cell-based assay testing in serum and CSF for diagnosing rare autoimmune encephalitis.
PubMed: 38423754
DOI: 10.1136/pn-2024-004089