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Journal of Neurosurgery. Pediatrics Jun 2024Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive...
OBJECTIVE
Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive functioning; however, the consequences on functional or adaptive outcomes are unknown. The purpose of the present study was to compare adaptive, behavioral, and emotional functioning between survivors with and those without a history of CMS.
METHODS
The authors examined outcomes in 45 survivors (15 with CMS and 30 without CMS). Comprehensive neuropsychological evaluations, which included parent-report measures of adaptive, behavioral, and emotional functioning, were completed at a median of 2.90 years following craniospinal irradiation.
RESULTS
Adaptive functioning was significantly worse in the CMS group for practical and general adaptive skills compared with the group without CMS. Rates of impairment in practical, conceptual, and general adaptive skills in the CMS group exceeded expected rates in the general population. Despite having lower overall intellectual functioning, working memory, and processing speed, IQ and related cognitive processes were uncorrelated with adaptive outcomes in the CMS group. No significant group differences or increased rates of impairment were observed for behavioral and emotional outcomes.
CONCLUSIONS
Survivors with CMS, compared with those without CMS, are rated as having significant deficits in overall or general adaptive functioning, with specific weakness in practical skills several years posttreatment. Findings from this study demonstrate the high risk for ongoing functional deficits despite acute recovery from symptoms of CMS, highlighting the need for intervention to mitigate such risk.
Topics: Humans; Medulloblastoma; Male; Female; Child; Mutism; Cerebellar Neoplasms; Adolescent; Adaptation, Psychological; Emotions; Neuropsychological Tests; Postoperative Complications; Child, Preschool
PubMed: 38552237
DOI: 10.3171/2024.1.PEDS23321 -
Brain & Spine 2024Autism spectrum disorder (ASD) is characterized by deficits in social communication, repetitive behaviors, and can be accompanied by a spectrum of psychiatric symptoms,...
INTRODUCTION
Autism spectrum disorder (ASD) is characterized by deficits in social communication, repetitive behaviors, and can be accompanied by a spectrum of psychiatric symptoms, such as schizophrenia and catatonia. Rarely, these symptoms, if left untreated, can result in spinal deformities.
RESEARCH QUESTION AND CASE DESCRIPTION
This case report details the treatment of a 16-year-old male ASD patient with catatonic schizophrenia and mutism, presenting with neck pain, left-rotated torticollis, and fever. MRI revealed atlantoaxial rotational instability and spinal cord compression from a dislocated dens axis. After inconclusive biopsies, empirical antibiotics, hard collar and halo fixation treatment, persistent instability necessitated C1/2 fusion. The ongoing catatonia was addressed with electroconvulsive therapy. Concurrently, he developed severe subaxial hyperkyphosis. The report examines the decision-making between conservative and surgical management for an adolescent with significant psychiatric comorbidity and progressive spinal symptoms against a backdrop of uncertain etiology.
MATERIALS AND METHODS
A case report and review of the literature.
RESULTS
Posterior C1-C7 stabilization was successfully executed, effectively restoring cervical sagittal alignment, which was maintained throughout a two-year follow-up. Concurrently, the catatonia resolved.
DISCUSSION AND CONCLUSION
To our knowledge, this is the third reported case of severe cervical deformity associated with fixed posture in a psychiatric patient. This case report emphasizes the critical importance of multidisciplinary collaboration in managing the interplay between neuropsychiatric disorders and severe spinal deformities. It showcases the practicality and efficacy of surgical intervention for persistent cervical deformity in pediatric schizophrenia patients, highlighting the necessity for a comprehensive risk-benefit analysis.
PubMed: 38510616
DOI: 10.1016/j.bas.2024.102747 -
Cureus Feb 2024Oral health is a vital part of overall health, particularly for children with special healthcare requirements. The terms "dumb" and "mute" are frequently linked with...
Oral health is a vital part of overall health, particularly for children with special healthcare requirements. The terms "dumb" and "mute" are frequently linked with the term "deaf" due to the connection between hearing loss and speech impairment. A hearing and speech-impaired child may be unable to express completely because of the communication barriers. It is important to treat special children with utmost care and safety. This case report describes the dental management of an 8-year-old special child reported with multiple carious lesions under general anesthesia as she was not well acquainted with sign language. In a hospital setting under general anesthesia (GA), all necessary treatments are carried out in a single appointment. Since it is monitored by a multi-disciplinary team it can safely provide effective care to a child with hearing impairment and mutism.
PubMed: 38455789
DOI: 10.7759/cureus.53685 -
Neuropsychopharmacology Reports Jun 2024Catatonia, a psychomotor disorder characterized by diverse clinical signs, including stupor and mutism, remains elusive in its causes and a challenge to diagnose....
INTRODUCTION
Catatonia, a psychomotor disorder characterized by diverse clinical signs, including stupor and mutism, remains elusive in its causes and a challenge to diagnose. Moreover, it is often underrecognized due to its resemblance to disorders of consciousness. However, when diagnosing catatonia, an antipsychotic medication may exacerbate the condition. The first-line treatment typically includes benzodiazepines and/or electroconvulsive therapy (ECT).
CASE REPORT
A 60-year-old woman with systemic lupus erythematosus (SLE) and epilepsy presented with catatonic stupor. Despite stable treatment, she experienced an acute deterioration in consciousness, requiring hospitalization. Her condition improved markedly following a benzodiazepine challenge, as documented on EEG. This improvement was short-lived, but a second benzodiazepine challenge restored her from E1V1M1 (stupor) to E4V5M6 within minutes, as documented by a video recording. The patient was treated with lorazepam 1.5 mg/day orally and did not experience further relapses.
DISCUSSION
The diagnosis of catatonia had been based on her scores on the Bush-Francis Catatonia Rating Scale (BFCRS; Screening, 6/14; Severity, 19), despite meeting only two DSM-5 criteria for catatonia (stupor and mutism). The diagnosis was supported by EEG and video documentation, excluding other potential differential diagnoses such as nonconvulsive status epilepticus and encephalopathy. Additional quantitative EEG analyses indicated that benzodiazepine administration increased brainwide alpha and beta band power significantly, suggesting that the benzodiazepine normalized attention, consciousness, and long-range synchronization. This report additionally emphasizes the significance of video recordings in managing catatonia, and it helps in accurately tracking symptoms, documenting comprehensively, and improving patient understanding, which is crucial for treatment adherence.
Topics: Humans; Female; Catatonia; Middle Aged; Electroencephalography; Stupor; Benzodiazepines; Video Recording; Lorazepam
PubMed: 38453164
DOI: 10.1002/npr2.12427 -
Cureus Jan 2024Bilateral medial medullary infarction (BMMI) is a rare stroke subtype that accounts for less than 1% of acute strokes. Common manifestations of this stroke include...
Bilateral medial medullary infarction (BMMI) is a rare stroke subtype that accounts for less than 1% of acute strokes. Common manifestations of this stroke include quadriparesis, bilateral hypoglossal palsy, bilateral sensory loss, and respiratory failure. We present the case of a 39-year-old male with deafness and mutism who was brought to the emergency department due to acute onset of altered mental status and generalized weakness, further decompensated, and was lately diagnosed with bilateral medial medullary infarction. This case hopes to illustrate a differential diagnosis to be considered and promptly managed when a patient presents with altered mental status and quadriparesis, especially in the acute setting where tissue plasminogen activator (tPA) can still be given.
PubMed: 38406117
DOI: 10.7759/cureus.52965 -
Diagnostics (Basel, Switzerland) Feb 2024Delayed Post-Hypoxic Leukoencephalopathy (DPHL), or Grinker's myelinopathy, is a syndrome in which extensive changes are seen in the white matter of the cerebral...
Diagnosis of Delayed Post-Hypoxic Leukoencephalopathy (Grinker's Myelinopathy) with MRI Using Divided Subtracted Inversion Recovery (dSIR) Sequences: Time for Reappraisal of the Syndrome?
Delayed Post-Hypoxic Leukoencephalopathy (DPHL), or Grinker's myelinopathy, is a syndrome in which extensive changes are seen in the white matter of the cerebral hemispheres with MRI weeks or months after a hypoxic episode. T-weighted spin echo (T-wSE) and/or T-Fluid Attenuated Inversion Recovery (T-FLAIR) images classically show diffuse hyperintensities in white matter which are thought to be near pathognomonic of the condition. The clinical features include Parkinsonism and akinetic mutism. DPHL is generally regarded as a rare condition. Two cases of DPHL imaged with MRI nine months and two years after probable hypoxic episodes are described. No abnormalities were seen on the T-FLAIR images with MRI, but very extensive changes were seen in the white matter of the cerebral and cerebellar hemisphere on divided Subtraction Inversion Recovery (dSIR) images. dSIR sequences may produce ten times the contrast of conventional inversion recovery (IR) sequences from small changes in T. The clinical findings in both cases were of cognitive impairment without Parkinsonism or akinetic mutism. The classic features of DPHL may only represent the severe end of a spectrum of diseases in white matter following global hypoxic injury to the brain. The condition may be much more common than is generally thought but may not be recognized using conventional clinical and MRI criteria for diagnosis. Reappraisal of the syndrome of DPHL to include clinically less severe cases and to encompass recent advances in MRI is advocated.
PubMed: 38396456
DOI: 10.3390/diagnostics14040418 -
Audiology Research Jan 2024If the term "genetics" is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific... (Review)
Review
If the term "genetics" is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel's principles of inheritance, since the dawn of human civilization the influence of heredity has been recognized, especially in agricultural crops and animal breeding. And, later, in familial dynasties. In this concise review, we outline the evolution of the idea of hereditary hearing loss, up to the current knowledge of molecular genetics and epigenetics.
PubMed: 38391767
DOI: 10.3390/audiolres14010010 -
Cureus Jan 2024Osmotic demyelinating disease of the central nervous system has two variants: central pontine myelinolysis and extra-pontine myelinolysis (EPM). Up to 10% of cases of...
Osmotic demyelinating disease of the central nervous system has two variants: central pontine myelinolysis and extra-pontine myelinolysis (EPM). Up to 10% of cases of osmotic demyelination syndrome are associated with EPM, which mostly affects the thalamus and basal ganglia. It is commonly associated with the rapid correction of hyponatremia. An elderly woman in her 60s presented with complaints of acute gastroenteritis and giddiness and visited the emergency ward. On examination, she was conscious and oriented to time but disoriented to place and person and had slurring of speech with signs of dehydration. Her serum sodium levels were 100 meq/L, and her brain MRI was normal. After shifting her to the intensive care unit, she was treated with 200 ml of 3% NaCl bolus to correct her hyponatremia. On day three, she began developing rigidity in both lower limbs, which progressed to the upper limbs with hyperreflexia and mutism. A brain MRI was done, which showed subtle hyperintensities in the caudate lobe with no other new findings. Her serum aldosterone and cortisol were on the lower side of the normal range. Treatment of tablet levodopa-carbidopa (100/25) combination thrice a day (TDS) led to an improvement in her health condition.
PubMed: 38384610
DOI: 10.7759/cureus.52707 -
European Journal of Paediatric... Jan 2024Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding... (Review)
Review
BACKGROUND
Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding the language outcomes in this population. Benefits of this work were the identification of shortcomings in the literature and a starting point toward formulating guidelines for postoperative language assessment.
METHODS
A systematic literature search was conducted, identifying studies with patients who had posterior fossa surgery before 18 years of age. Included studies were narratively synthesized to understand language outcomes by language function (e.g., phonology, morphosyntax) at a group and individual level. Furthermore, the influence of several mediators (e.g., postoperative cerebellar mutism syndrome (pCMS), tumor type) was investigated. A critical evaluation of the language assessment tools was conducted.
RESULTS
The narrative synthesis of 66 studies showed that a broad spectrum of language impairments has been described, characterized by a large interindividual heterogeneity. Patients younger at diagnosis, receiving treatment for a high-grade tumor and/or radiotherapy and diagnosed with pCMS seemed more prone to impairment. Several gaps in language assessment remain, such as a baseline preoperative assessment and the assessment of pragmatics and morphosyntax. Further, there were important methodological differences in existing studies which complicated our ability to accurately guide clinical practice.
CONCLUSION
Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.
Topics: Child; Humans; Postoperative Complications; Brain Neoplasms; Infratentorial Neoplasms; Cerebellar Diseases; Neurosurgical Procedures; Mutism; Cerebellar Neoplasms
PubMed: 38377646
DOI: 10.1016/j.ejpn.2023.12.005 -
Deutsches Arzteblatt International Mar 2024Approximately 9.9 % of children present with difficulties in language development (DLD), 7.6 % without serious additional impairments and 2.3 % associated with...
BACKGROUND
Approximately 9.9 % of children present with difficulties in language development (DLD), 7.6 % without serious additional impairments and 2.3 % associated with languagerelevant comorbidities, e.g., hearing loss. Notably, in a consensus statement by experts in German-speaking countries, in the guideline presented here, and further in this article, all of these disorders are referred to as "developmental language disorders" (DLD), whereas the international consortium CATALISE only refers to those without comorbidities as DLD. DLDs are among the most commonly treated childhood disorders and, if persistent, often reduce educational and socio-economic outcome. Children in their third year of life with developmental language delay (late talkers, LT) are at risk of a later DLD.
METHODS
This German interdisciplinary clinical practice guideline reflects current knowledge regarding evidence-based interventions for developmental language delay and disorders. A systematic literature review was conducted on the effectiveness of interventions for DLD.
RESULTS
The guideline recommends parent training (Hedges g = 0.38 to 0.82) for LTs with expressive language delay, language therapy (Cohen's d = -0.20 to 0.90) for LTs with additional receptive language delay or further DLD risk factors, phonological or integrated phonological treatment methods (Cohen's d = 0.89 to 1.04) for phonological speech sound disorders (SSDs), a motor approach for isolated phonetic SSDs (non-DLD), and for lexical-semantic and morpho-syntactic impairments combinations of implicit and explicit intervention approaches (including input enrichment, modeling techniques, elicitation methods, creation of production opportunities, metalinguistic- approaches, visualizations; Cohen's d = 0.89-1.04). Recom mendations were also made for DLD associated with pragmatic-communicative impairment, bi-/ multilingualism, hearing loss, intellectual disability, autism-spectrum disorders, selective mutism, language- relevant syndromes or multiple disabilities, and for intensive inpatient language rehabilitation.
CONCLUSION
Early parent- and child-centered speech and language intervention implementing evidence-based intervention approaches, frequency, and settings, combined with educational language support, can improve the effectiveness of management of developmental language delay and disorders.
Topics: Humans; Language Development Disorders; Germany; Language Therapy; Child, Preschool; Child; Male; Female; Practice Guidelines as Topic
PubMed: 38377329
DOI: 10.3238/arztebl.m2024.0004