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<!--
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||
UID=6476
|
||
ConceptID=C0026884
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mutism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6476</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Mutisms</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mutism (88052002); Muteness (88052002)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002300">HP:0002300</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
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<td><a href="https://monarchinitiative.org/disease/MONDO:0002905" target="_blank">MONDO:0002905</a></td></tr>
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<div class="portlet_content ln">Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0026884[DISCUI]&test_type=Clinical" ref="ncbi_uid=6476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6476" ref="ncbi_uid=6476">V</a></span></span><span class="TLline">Mutism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1052794" ref="tree=MeSH" title="MedGen record for Abnormal cognitive process">Abnormal cognitive process</a></span><ul><li><span class="TLline"><a href="/medgen/1842075" ref="tree=MeSH" title="MedGen record for Abnormal communication">Abnormal communication</a></span><ul><li><span class="TLline"><a href="/medgen/1841539" ref="tree=MeSH" title="MedGen record for Abnormal language feature">Abnormal language feature</a></span><ul><li><span class="TLline"><a href="/medgen/1853271" ref="tree=MeSH" title="MedGen record for Abnormal speech pattern">Abnormal speech pattern</a></span><ul><li><span class="matched_ds">Mutism</span><ul><li><span class="TLline"><a href="/medgen/116023" ref="tree=MeSH" title="MedGen record for Selective mutism">Selective mutism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_318833"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332304"><div><strong>Neuronal ceroid lipofuscinosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332304">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375285"><div><strong>GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375285</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive nonfluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome (CBS). A broad range of clinical features both within and between families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375285">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375289"><div><strong>Biotin-responsive basal ganglia disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375289</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ten years with recurrent subacute encephalopathy manifesting as confusion, seizures, ataxia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia that, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. Adult Wernicke-like encephalopathy BTBGD, described in three individuals to date, presents after age ten years with acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in classic and adult BTBGD; however, most infants with early-infantile BTBGD have a poor outcome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337637"><div><strong>Spinocerebellar ataxia type 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337637</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/337637">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_381211"><div><strong>Neuroferritinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381211">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347622"><div><strong>Huntington disease-like 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347622</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/347622">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_358384"><div><strong>Dystonia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358384</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1868681</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/358384">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_394455"><div><strong>Christianson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394455</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2678194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/394455">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_907932"><div><strong>Early-onset Lafora body disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907932</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Progressive myoclonic epilepsy-10 (EPM10) is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/907932">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902979"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902979">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_897127"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/897127">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1640811"><div><strong>Supranuclear palsy, progressive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640811</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640811">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648420"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648420">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677784"><div><strong>Lethal arthrogryposis-anterior horn cell disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677784</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). Distinction from Lethal Congenital Contracture Syndrome 1 Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements. Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1677784">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1678789"><div><strong>Brain abnormalities, neurodegeneration, and dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678789</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1678789">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794139"><div><strong>Leukoencephalopathy, diffuse hereditary, with spheroids 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of CSF1R-related disorder ranges from early-onset disease (age <18 years) to late-onset disease (age =18 years). Early-onset disease is associated with hypotonia, delayed acquisition of developmental milestones, and non-neurologic manifestations (such as skeletal abnormalities); both early- and late-onset disease have similar neurodegenerative involvement. Most affected individuals eventually become bedridden with spasticity, rigidity, and loss of the ability to walk. They lose speech and voluntary movement and appear to be generally unaware of their surroundings. The last stage of disease progresses to a vegetative state with presence of primitive reflexes, such as visual and tactile grasp, mouth-opening reflex, and sucking reflex. Death most commonly results from pneumonia or other infections. About 500 individuals with CSF1R-related disorder have been reported to date.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794139">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1840955"><div><strong>Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1840955">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotin-responsive basal ganglia disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain abnormalities, neurodegeneration, and dysosteosclerosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Christianson syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset Lafora body disease</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Huntington disease-like 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal arthrogryposis-anterior horn cell disease syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 33</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroferritinopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear palsy, progressive, 1</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35900161">World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for treatment of anxiety, obsessive-compulsive and posttraumatic stress disorders - Version 3. Part I: Anxiety disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandelow B,
|
||
Allgulander C,
|
||
Baldwin DS,
|
||
Costa DLDC,
|
||
Denys D,
|
||
Dilbaz N,
|
||
Domschke K,
|
||
Eriksson E,
|
||
Fineberg NA,
|
||
Hättenschwiler J,
|
||
Hollander E,
|
||
Kaiya H,
|
||
Karavaeva T,
|
||
Kasper S,
|
||
Katzman M,
|
||
Kim YK,
|
||
Inoue T,
|
||
Lim L,
|
||
Masdrakis V,
|
||
Menchón JM,
|
||
Miguel EC,
|
||
Möller HJ,
|
||
Nardi AE,
|
||
Pallanti S,
|
||
Perna G,
|
||
Rujescu D,
|
||
Starcevic V,
|
||
Stein DJ,
|
||
Tsai SJ,
|
||
Van Ameringen M,
|
||
Vasileva A,
|
||
Wang Z,
|
||
Zohar J</span><br />
|
||
<span class="medgenPMjournal">World J Biol Psychiatry</span>
|
||
2023 Feb;24(2):79-117.
|
||
Epub 2022 Jul 28
|
||
doi: 10.1080/15622975.2022.2086295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35900161" target="_blank">35900161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32044373">On the pathophysiology and treatment of akinetic mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnts H,
|
||
van Erp WS,
|
||
Lavrijsen JCM,
|
||
van Gaal S,
|
||
Groenewegen HJ,
|
||
van den Munckhof P</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2020 May;112:270-278.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1016/j.neubiorev.2020.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32044373" target="_blank">32044373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30282583">The Diagnosis and Treatment of Anxiety Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ströhle A,
|
||
Gensichen J,
|
||
Domschke K</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2018 Sep 14;155(37):611-620.
|
||
doi: 10.3238/arztebl.2018.0611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30282583" target="_blank">30282583</a><a href="/pmc/articles/PMC6206399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mutism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (70)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32047620">Understanding and managing acute encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar R</span><br />
|
||
<span class="medgenPMjournal">F1000Res</span>
|
||
2020;9
|
||
Epub 2020 Jan 29
|
||
doi: 10.12688/f1000research.20634.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32047620" target="_blank">32047620</a><a href="/pmc/articles/PMC6993835" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30282583">The Diagnosis and Treatment of Anxiety Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ströhle A,
|
||
Gensichen J,
|
||
Domschke K</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2018 Sep 14;155(37):611-620.
|
||
doi: 10.3238/arztebl.2018.0611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30282583" target="_blank">30282583</a><a href="/pmc/articles/PMC6206399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26709680">Selective mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua A,
|
||
Major N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2016 Feb;28(1):114-20.
|
||
doi: 10.1097/MOP.0000000000000300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26709680" target="_blank">26709680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22742590">Medulloblastoma-biology and microenvironment: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrd T,
|
||
Grossman RG,
|
||
Ahmed N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2012 Sep;29(6):495-506.
|
||
Epub 2012 Jun 28
|
||
doi: 10.3109/08880018.2012.698372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22742590" target="_blank">22742590</a><a href="/pmc/articles/PMC4102096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20172469">Cretinism revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZP,
|
||
Hetzel BS</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2010 Feb;24(1):39-50.
|
||
doi: 10.1016/j.beem.2009.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20172469" target="_blank">20172469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (510)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32772064">Selective mutism - an overview of the condition and etiology: is the absence of speech just the tip of the iceberg?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rozenek EB,
|
||
Orlof W,
|
||
Nowicka ZM,
|
||
Wilczyńska K,
|
||
Waszkiewicz N</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Pol</span>
|
||
2020 Apr 30;54(2):333-349.
|
||
doi: 10.12740/PP/OnlineFirst/108503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32772064" target="_blank">32772064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28028861">Creutzfeldt-Jakob disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwasaki Y</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2017 Apr;37(2):174-188.
|
||
Epub 2016 Dec 28
|
||
doi: 10.1111/neup.12355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28028861" target="_blank">28028861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26709680">Selective mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua A,
|
||
Major N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2016 Feb;28(1):114-20.
|
||
doi: 10.1097/MOP.0000000000000300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26709680" target="_blank">26709680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26351234">Cerebellar mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamburrini G,
|
||
Frassanito P,
|
||
Chieffo D,
|
||
Massimi L,
|
||
Caldarelli M,
|
||
Di Rocco C</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2015 Oct;31(10):1841-51.
|
||
Epub 2015 Sep 9
|
||
doi: 10.1007/s00381-015-2803-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26351234" target="_blank">26351234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439285">Clinical manifestations of cerebellar disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Javalkar V,
|
||
Khan M,
|
||
Davis DE</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Nov;32(4):871-9.
|
||
Epub 2014 Oct 24
|
||
doi: 10.1016/j.ncl.2014.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439285" target="_blank">25439285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (871)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32727942">Autoimmune Encephalitis in Children: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg D,
|
||
Mohammad SS,
|
||
Sharma S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2020 Jul 15;57(7):662-670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32727942" target="_blank">32727942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32044373">On the pathophysiology and treatment of akinetic mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnts H,
|
||
van Erp WS,
|
||
Lavrijsen JCM,
|
||
van Gaal S,
|
||
Groenewegen HJ,
|
||
van den Munckhof P</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2020 May;112:270-278.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1016/j.neubiorev.2020.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32044373" target="_blank">32044373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32002937">Current and Novel Psychopharmacological Drugs for Anxiety Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandelow B</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2020;1191:347-365.
|
||
doi: 10.1007/978-981-32-9705-0_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32002937" target="_blank">32002937</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27349358">Anxiety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craske MG,
|
||
Stein MB</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2016 Dec 17;388(10063):3048-3059.
|
||
Epub 2016 Jun 24
|
||
doi: 10.1016/S0140-6736(16)30381-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27349358" target="_blank">27349358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26709680">Selective mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua A,
|
||
Major N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2016 Feb;28(1):114-20.
|
||
doi: 10.1097/MOP.0000000000000300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26709680" target="_blank">26709680</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (441)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32772064">Selective mutism - an overview of the condition and etiology: is the absence of speech just the tip of the iceberg?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rozenek EB,
|
||
Orlof W,
|
||
Nowicka ZM,
|
||
Wilczyńska K,
|
||
Waszkiewicz N</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Pol</span>
|
||
2020 Apr 30;54(2):333-349.
|
||
doi: 10.12740/PP/OnlineFirst/108503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32772064" target="_blank">32772064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32727942">Autoimmune Encephalitis in Children: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg D,
|
||
Mohammad SS,
|
||
Sharma S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2020 Jul 15;57(7):662-670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32727942" target="_blank">32727942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26709680">Selective mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua A,
|
||
Major N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2016 Feb;28(1):114-20.
|
||
doi: 10.1097/MOP.0000000000000300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26709680" target="_blank">26709680</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26351234">Cerebellar mutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamburrini G,
|
||
Frassanito P,
|
||
Chieffo D,
|
||
Massimi L,
|
||
Caldarelli M,
|
||
Di Rocco C</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2015 Oct;31(10):1841-51.
|
||
Epub 2015 Sep 9
|
||
doi: 10.1007/s00381-015-2803-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26351234" target="_blank">26351234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21568252">Speech and language delay in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McLaughlin MR</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2011 May 15;83(10):1183-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21568252" target="_blank">21568252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (459)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32056026">Functional tracts of the cerebellum-essentials for the neurosurgeon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beez T,
|
||
Munoz-Bendix C,
|
||
Steiger HJ,
|
||
Hänggi D</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Rev</span>
|
||
2021 Feb;44(1):273-278.
|
||
Epub 2020 Feb 13
|
||
doi: 10.1007/s10143-020-01242-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32056026" target="_blank">32056026</a><a href="/pmc/articles/PMC7851031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31807931">Telovelar surgical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghali MGZ</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Rev</span>
|
||
2021 Feb;44(1):61-76.
|
||
Epub 2019 Dec 5
|
||
doi: 10.1007/s10143-019-01190-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31807931" target="_blank">31807931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29997061">The cerebellum and cognition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmahmann JD</span><br />
|
||
<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2019 Jan 1;688:62-75.
|
||
Epub 2018 Jul 8
|
||
doi: 10.1016/j.neulet.2018.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29997061" target="_blank">29997061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28028861">Creutzfeldt-Jakob disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwasaki Y</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2017 Apr;37(2):174-188.
|
||
Epub 2016 Dec 28
|
||
doi: 10.1111/neup.12355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28028861" target="_blank">28028861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22742590">Medulloblastoma-biology and microenvironment: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrd T,
|
||
Grossman RG,
|
||
Ahmed N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
|
||
2012 Sep;29(6):495-506.
|
||
Epub 2012 Jun 28
|
||
doi: 10.3109/08880018.2012.698372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22742590" target="_blank">22742590</a><a href="/pmc/articles/PMC4102096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (398)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37875905">Long-term outcomes of selective mutism: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koskela M,
|
||
Ståhlberg T,
|
||
Yunus WMAWM,
|
||
Sourander A</span><br />
|
||
<span class="medgenPMjournal">BMC Psychiatry</span>
|
||
2023 Oct 24;23(1):779.
|
||
doi: 10.1186/s12888-023-05279-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37875905" target="_blank">37875905</a><a href="/pmc/articles/PMC10598940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32056026">Functional tracts of the cerebellum-essentials for the neurosurgeon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beez T,
|
||
Munoz-Bendix C,
|
||
Steiger HJ,
|
||
Hänggi D</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Rev</span>
|
||
2021 Feb;44(1):273-278.
|
||
Epub 2020 Feb 13
|
||
doi: 10.1007/s10143-020-01242-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32056026" target="_blank">32056026</a><a href="/pmc/articles/PMC7851031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32070914">Catatonia in N-methyl-d-aspartate receptor antibody encephalitis: Phenomenological characteristics from a systematic review of case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serra-Mestres J,
|
||
Villagrasa-Blasco B,
|
||
Thacker V,
|
||
Jaimes-Albornoz W,
|
||
Sharma P,
|
||
Isetta M</span><br />
|
||
<span class="medgenPMjournal">Gen Hosp Psychiatry</span>
|
||
2020 May-Jun;64:9-16.
|
||
Epub 2020 Jan 28
|
||
doi: 10.1016/j.genhosppsych.2020.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32070914" target="_blank">32070914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29067507">Non-surgical transient cerebellar mutism-case report and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makarenko S,
|
||
Singh N,
|
||
McDonald PJ</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2018 Mar;34(3):535-540.
|
||
Epub 2017 Oct 24
|
||
doi: 10.1007/s00381-017-3643-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29067507" target="_blank">29067507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26560144">The use of medication in selective mutism: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manassis K,
|
||
Oerbeck B,
|
||
Overgaard KR</span><br />
|
||
<span class="medgenPMjournal">Eur Child Adolesc Psychiatry</span>
|
||
2016 Jun;25(6):571-8.
|
||
Epub 2015 Nov 9
|
||
doi: 10.1007/s00787-015-0794-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26560144" target="_blank">26560144</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mutism%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026884%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026884%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0026884%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Mutism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mutism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Mutism%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mutism" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Mutism" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Mutism%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=6476" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026884[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026884[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=6476" ref="log$=recordlinks">PMC Articles</a>
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Turn On
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