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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 -
Research Square Aug 2023Studies exploring the brain correlates of behavioural symptoms in the frontotemporal dementia spectrum (FTD) have mainly searched for linear correlations with single...
BACKGROUND
Studies exploring the brain correlates of behavioural symptoms in the frontotemporal dementia spectrum (FTD) have mainly searched for linear correlations with single modality neuroimaging data, either structural magnetic resonance imaging (MRI) or fluoro-deoxy-D-glucose positron emission tomography (FDG-PET). We aimed at studying the two imaging modalities in combination to identify nonlinear co-occurring patterns of atrophy and hypometabolism related to behavioural symptoms.
METHODS
We analysed data from 93 FTD patients who underwent T1-weighted MRI, FDG-PET imaging, and neuropsychological assessment including the Neuropsychiatric Inventory, Frontal Systems Behaviour Scale, and Neurobehavioral Rating Scale. We used a data-driven approach to identify the principal components underlying behavioural variability, then related the identified components to brain variability using a newly developed method fusing maps of grey matter volume and FDG metabolism.
RESULTS
A component representing apathy, executive dysfunction, and emotional withdrawal was associated with atrophy in bilateral anterior insula and putamen, and with hypometabolism in the right prefrontal cortex. Another component representing the disinhibition versus depression/mutism continuum was associated with atrophy in the right striatum and ventromedial prefrontal cortex for disinhibition, and hypometabolism in the left fronto-opercular region and sensorimotor cortices for depression/mutism. A component representing psychosis was associated with hypometabolism in the prefrontal cortex and hypermetabolism in auditory and visual cortices.
DISCUSSION
Behavioural symptoms in FTD are associated with atrophy and altered metabolism of specific brain regions, especially located in the frontal lobes, in a hierarchical way: apathy and disinhibition are mostly associated with grey matter atrophy, whereas psychotic symptoms are mostly associated with hyper-/hypo-metabolism.
PubMed: 37674710
DOI: 10.21203/rs.3.rs-3271530/v1 -
European Child & Adolescent Psychiatry Jan 2024The siblings of children with mental disorders are more likely to experience mental health issues themselves, but there has been a lack of sibling studies on selective...
The siblings of children with mental disorders are more likely to experience mental health issues themselves, but there has been a lack of sibling studies on selective mutism (SM). The aim of this population-based study was to use national registers to examine associations between children with SM and diagnoses of various mental disorder in their siblings. All singleton children born in Finland from 1987 to 2009, and diagnosed with SM from 1998 to 2012, were identified from national health registers and matched with four controls by age and sex. Their biological siblings and parents were identified using national registries and the diagnostic information on the siblings of the subjects and controls was obtained. The final analyses comprised 658 children with SM and their 1661 siblings and 2092 controls with 4120 siblings. The analyses were conducted using generalized estimating equations. Mental disorders were more common among the siblings of the children with SM than among the siblings of the controls. The strongest associations were observed for childhood emotional disorders and autism spectrum disorders after the data were adjusted for covariates and comorbid diagnoses among SM subjects. The final model showed associations between SM and a wide range of disorders in siblings, with strongest associations with disorders that usually have their onset during childhood. Our finding showed that SM clustered with other mental disorders in siblings and this requires further research, especially the association between SM and autism spectrum disorders. Strong associations with childhood onset disorders may indicate shared etiologies.
Topics: Child; Humans; Mutism; Siblings; Neurodevelopmental Disorders; Mental Disorders; Comorbidity; Child Behavior Disorders
PubMed: 36422730
DOI: 10.1007/s00787-022-02114-3 -
Frontiers in Psychiatry 2023Clinical practice guidelines (CPGs) are used to guide decision-making, especially regarding complementary and alternative medicine (CAM) therapies that are unfamiliar to...
Identifying complementary and alternative medicine recommendations for anxiety treatment and care: a systematic review and critical assessment of comprehensive clinical practice guidelines.
BACKGROUND
Clinical practice guidelines (CPGs) are used to guide decision-making, especially regarding complementary and alternative medicine (CAM) therapies that are unfamiliar to orthodox healthcare providers. This systematic review aimed to critically review and summarise CAM recommendations associated with anxiety management included in the existing CPGs.
METHODS
Seven databases, websites of six international guidelines developing institutions, and the website were systematically searched. Their reporting and methodological quality were evaluated using the checklist and the (2nd version) instrument, respectively.
RESULTS
Ten CPGs were included, with reporting rates between 51.4 and 88.6%. Seven of these were of moderate to high methodological quality. Seventeen CAM modalities were implicated, involving phytotherapeutics, mind-body practice, art therapy, and homeopathy. Applied relaxation was included in 70% CPGs, which varied in degree of support for its use in the treatment of generalised anxiety disorder. There were few recommendations for other therapies/products. Light therapy was not recommended for use in generalised anxiety disorder, and and mindfulness were not recommended for use in social anxiety disorder in individual guidelines. Recommendations for the applicability of other therapies/products for treating a specific anxiety disorder were commonly graded as "unclear, unambiguous, or uncertain". No CAM recommendations were provided for separation anxiety disorder, specific phobia or selective mutism.
CONCLUSION
Available guidelines are limited in providing logically explained graded CAM recommendations for anxiety treatment and care. A lack of high-quality evidence and multidisciplinary consultation during the guideline development are two major reasons. High quality and reliable clinical evidence and the engagement of a range of interdisciplinary stakeholders are needed for future CPG development and updating.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022373694, identifier CRD42022373694.
PubMed: 38152358
DOI: 10.3389/fpsyt.2023.1290580 -
BMC Neurology Oct 2023Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities.
CASE PRESENTATION
We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors.
CONCLUSIONS
The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.
Topics: Humans; Male; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Churg-Strauss Syndrome; Multimorbidity; Myoclonus; Situs Inversus
PubMed: 37784069
DOI: 10.1186/s12883-023-03401-5