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Neuroscience and Biobehavioral Reviews May 2020Akinetic mutism (AM) is a rare neurological disorder characterized by the presence of an intact level of consciousness and sensorimotor capacity, but with a simultaneous... (Review)
Review
Akinetic mutism (AM) is a rare neurological disorder characterized by the presence of an intact level of consciousness and sensorimotor capacity, but with a simultaneous decrease in goal-directed behavior and emotions. Patients are in a wakeful state of profound apathy, seemingly indifferent to pain, thirst, or hunger. It represents the far end within the spectrum of disorders of diminished motivation. In recent years, more has become known about the functional roles of neurocircuits and neurotransmitters associated with human motivational behavior. More specific, there is an increasing body of behavioral evidence that links specific damage of functional frontal-subcortical organization to the occurrence of distinct neurological deficits. In this review, we combine evidence from lesion studies and neurophysiological evidence in animals, imaging studies in humans, and clinical investigations in patients with AM to form an integrative theory of its pathophysiology. Moreover, the specific pharmacological interventions that have been used to treat AM and their rationales are reviewed, providing a comprehensive overview for use in clinical practice.
Topics: Adrenergic Uptake Inhibitors; Akinetic Mutism; Animals; Dopamine Agonists; Dopamine Uptake Inhibitors; Dopaminergic Neurons; GABA-A Receptor Agonists; Gray Matter; Humans; Motivation; Zolpidem
PubMed: 32044373
DOI: 10.1016/j.neubiorev.2020.02.006 -
American Family Physician May 2011Speech and language delay in children is associated with increased difficulty with reading, writing, attention, and socialization. Although physicians should be alert to...
Speech and language delay in children is associated with increased difficulty with reading, writing, attention, and socialization. Although physicians should be alert to parental concerns and to whether children are meeting expected developmental milestones, there currently is insufficient evidence to recommend for or against routine use of formal screening instruments in primary care to detect speech and language delay. In children not meeting the expected milestones for speech and language, a comprehensive developmental evaluation is essential, because atypical language development can be a secondary characteristic of other physical and developmental problems that may first manifest as language problems. Types of primary speech and language delay include developmental speech and language delay, expressive language disorder, and receptive language disorder. Secondary speech and language delays are attributable to another condition such as hearing loss, intellectual disability, autism spectrum disorder, physical speech problems, or selective mutism. When speech and language delay is suspected, the primary care physician should discuss this concern with the parents and recommend referral to a speech-language pathologist and an audiologist. There is good evidence that speech-language therapy is helpful, particularly for children with expressive language disorder.
Topics: Age Factors; Child, Preschool; Counseling; Evidence-Based Medicine; Humans; Infant; Language Development; Language Development Disorders; Mass Screening; Parents; Physician's Role; Physicians, Primary Care; Prevalence; Preventive Health Services; Prognosis; Speech Disorders; Speech Therapy; United States
PubMed: 21568252
DOI: No ID Found -
Clinical Child and Family Psychology... Jun 2021In current classification systems, selective mutism (SM) is included in the broad anxiety disorders category. Indeed, there is abundant evidence showing that anxiety,... (Review)
Review
In current classification systems, selective mutism (SM) is included in the broad anxiety disorders category. Indeed, there is abundant evidence showing that anxiety, and social anxiety in particular, is a prominent feature of SM. In this article, we point out that autism spectrum problems in addition to anxiety problems are sometimes also implicated in SM. To build our case, we summarize evidence showing that SM, social anxiety disorder (SAD), and autism spectrum disorder (ASD) are allied clinical conditions and share communalities in the realm of social difficulties. Following this, we address the role of a prototypical class of ASD symptoms, restricted and repetitive behaviors and interests (RRBIs), which are hypothesized to play a special role in the preservation and exacerbation of social difficulties. We then substantiate our point that SM is sometimes more than an anxiety disorder by addressing its special link with ASD in more detail. Finally, we close by noting that the possible involvement of ASD in SM has a number of consequences for clinical practice with regard to its classification, assessment, and treatment of children with SM and highlight a number of directions for future research.
Topics: Anxiety; Anxiety Disorders; Autism Spectrum Disorder; Child; Child Behavior Disorders; Humans; Mutism; Phobia, Social
PubMed: 33462750
DOI: 10.1007/s10567-020-00342-0 -
Revista de Neurologia Sep 2013The study reviews language disorders in children. Taking their normal development as the starting point, the work puts forward a differential diagnosis based on the... (Review)
Review
AIMS
The study reviews language disorders in children. Taking their normal development as the starting point, the work puts forward a differential diagnosis based on the symptoms presented in the moment the patient visited the physician. It also suggests an approach for children with language disorders from the neuropaediatric point of view while also updating the management of some of its forms.
DEVELOPMENT
The acquisition of language is one of the key milestones in the development of children. A child's social and intellectual development is affected by delayed acquisition of language and this can give rise to a ongoing effect involving isolation and regression, which tends towards poor academic achievement and, eventually, leads to the development of learning and social problems. There are studies that evidence a close relationship in children between the development of spoken language and written language, as well as the importance of acquiring language as the basis for writing skills. These problems cause a great deal of anxiety in parents.
CONCLUSIONS
Knowledge of the problem allows the specialist to detect these children early on in the preschool stage and to ensure they receive the right attention. If treated in time, language learning can be modified to a significant degree, thereby avoiding the complications that affect its development. The specialist working with children must recognise these problems and channel them towards the most suitable therapy.
Topics: Agraphia; Aphasia; Autistic Disorder; Child; Child, Preschool; Diagnosis, Differential; Dyslexia; Female; Humans; Infant; Infant, Newborn; Landau-Kleffner Syndrome; Language Development; Language Development Disorders; Language Disorders; Language Therapy; Male; Mutism; Prevalence; Psychosocial Deprivation; Speech Disorders
PubMed: 23897160
DOI: No ID Found -
Psychiatria Polska Apr 2020The inability to speak in certain situations, as one may briefly characterize selective mutism (SM), according to the most recent classifications (DSM-5, ICD-11) belongs... (Review)
Review
The inability to speak in certain situations, as one may briefly characterize selective mutism (SM), according to the most recent classifications (DSM-5, ICD-11) belongs to the anxiety disorder spectrum. The onset of mutism in early childhood may impair further development and adversely affect educational achievements. It is essential that psychiatrists, as well as other physicians, speech therapists, nurses and teachers are familiar with this disorder, since the early start of treatment is associated with better prognosis. This literature review aims to present the contemporary view of this relatively rare psychopathological syndrome. In light of most recent studies on the etiology of SM, the sole symptom of mutism appears to represent an underlying heterogenic group of disorders. Based on the developmental psychopathology, the interrelations between overlapping abnormalities favor SM manifestation in some crucial moment in an individual's life. The etiologic complexity strongly suggests multimodal approach in the diagnostic and treatment process, which has been postulated by many authors.
Topics: Behavior Therapy; Child; Child Behavior Disorders; Child Development; Humans; Mutism
PubMed: 32772064
DOI: 10.12740/PP/OnlineFirst/108503 -
Cureus Jan 2021Pediatric akinetic mutism syndrome is a clinical disease resulting from cerebellar injury and characterized by the absence of speech or reduced speech, emotional... (Review)
Review
Pediatric akinetic mutism syndrome is a clinical disease resulting from cerebellar injury and characterized by the absence of speech or reduced speech, emotional lability, there may also be hypotonia, oropharyngeal dysfunction/dysphagia, bladder and intestinal incontinence, or other behavioral disorders and neurological signals. It is described as the most recurrent complication in children, after posterior fossa tumor surgery, mainly related to cerebellar midline injuries. An increasing number of research and prospective reviews have provided valuable information on cerebellar mutism syndrome in recent years. The purpose of this review was to elucidate the pathophysiological basis and the predictive factors for this syndrome. Most cases of mutism are due to injury cerebellar tracts and cerebellar-cerebral circuits, involving particularly distinct points of the dentate-thalamus-cortical and dentato-rubro-thalamus-cortical. Advanced neuroimaging techniques, such as tractography and perfusion studies, have contributed to demonstrating changes in these pathways in patients with pediatric cerebellar mutism.
PubMed: 33542880
DOI: 10.7759/cureus.12593 -
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 -
Frontiers in Cell and Developmental... 2022Cerebellar mutism syndrome (CMS) is a common complication following surgical resection of childhood tumors arising in the posterior fossa. Alteration of linguistic... (Review)
Review
Cerebellar mutism syndrome (CMS) is a common complication following surgical resection of childhood tumors arising in the posterior fossa. Alteration of linguistic production, up to muteness and emotional lability, generally reported at least 24 h after the intervention, is the hallmark of post-operative CMS. Other associated traits include hypotonia and other cerebellar motor signs, cerebellar cognitive-affective syndrome, motor deficits from the involvement of the long pathways, and cranial neuropathies. Recovery usually takes 6 months, but most children are burdened with long-term residual deficits. The pathogenic mechanism is likely due to the damage occurring to the proximal efferent cerebellar pathway, including the dentate nucleus, the superior cerebellar peduncle, and its decussation in the mesencephalic tegmentum. Proven risk factors include brain stem invasion, diagnosis of medulloblastoma, midline localization, tumor size, invasion of the fourth ventricle, invasion of the superior cerebellar peduncle, left-handedness, and incision of the vermis. Currently, rehabilitation is the cornerstone of the treatment of patients with cerebellar mutism syndrome, and it must consider the three main impaired domains, namely speech, cognition/behavior, and movement.
PubMed: 36531947
DOI: 10.3389/fcell.2022.1082947 -
Journal of the Academy of... 2021Coronavirus disease 2019 (COVID-19) has been associated with neuropsychiatric complications ranging from new-onset psychosis to delirium, dysexecutive syndromes,... (Review)
Review
BACKGROUND
Coronavirus disease 2019 (COVID-19) has been associated with neuropsychiatric complications ranging from new-onset psychosis to delirium, dysexecutive syndromes, catatonia, and akinetic mutism (AM). AM can be conceptualized as a disorder of motivation wherein patients exhibit a loss of speech and spontaneous movement, owing to disruption of underlying frontal-subcortical circuits.
OBJECTIVES
The objectives of this study were to review the concept and differential diagnosis of AM, as well as the clinical literature on AM in COVID-19 and discuss potential implications for underlying functional neuroanatomy and mechanistic pathways, as well as clinical management.
METHODS
A narrative literature review was performed using PubMed querying published articles for topics associated with AM and its occurrence in COVID-19.
RESULTS
AM has been described in case reports and a prospective cohort study of patients with COVID with neurological complaints. Three COVID-19 AM subgroups can be distinguished, including individuals with severe respiratory illness, those with meningoencephalitis, and those with delirium and pre-existing neuropsychiatric illness. Electrophysiology and functional imaging suggest COVID-19 AM may result from underlying frontal lobe dysfunction and disruption of associated distributed circuits subserving goal-directed behavior. Distinctive combinations of pathophysiological mechanisms may be at play in the different subgroups of COVID-19 AM cases.
CONCLUSION
AM has been described in association with COVID-19 and may manifest in clinically heterogenous subgroups with distinct underlying mechanisms. The diagnosis of AM and evaluation of potential etiologies can be complex. The occurrence of AM contributes evidence to the hypothesis of frontal lobe dysfunction in COVID-19.
Topics: Akinetic Mutism; COVID-19; Humans; Motivation; Prospective Studies; SARS-CoV-2
PubMed: 34461295
DOI: 10.1016/j.jaclp.2021.08.009