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Mutism

MedGen UID:
6476
Concept ID:
C0026884
Disease or Syndrome
Synonym: Mutisms
SNOMED CT: Mutism (88052002); Muteness (88052002)
 
HPO: HP:0002300
Monarch Initiative: MONDO:0002905

Definition

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 HPO]

Conditions with this feature

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
MedGen UID:
318833
Concept ID:
C1833296
Disease or Syndrome
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.
Neuronal ceroid lipofuscinosis 9
MedGen UID:
332304
Concept ID:
C1836841
Disease or Syndrome
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).
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
MedGen UID:
375285
Concept ID:
C1843792
Disease or Syndrome
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.
Biotin-responsive basal ganglia disease
MedGen UID:
375289
Concept ID:
C1843807
Disease or Syndrome
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, 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. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Spinocerebellar ataxia type 17
MedGen UID:
337637
Concept ID:
C1846707
Disease or Syndrome
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.
Neuroferritinopathy
MedGen UID:
381211
Concept ID:
C1853578
Disease or Syndrome
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.
Huntington disease-like 3
MedGen UID:
347622
Concept ID:
C1858114
Disease or Syndrome
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.
Dystonia 12
MedGen UID:
358384
Concept ID:
C1868681
Disease or Syndrome
ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.
Christianson syndrome
MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
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.
Early-onset Lafora body disease
MedGen UID:
907932
Concept ID:
C4225258
Disease or Syndrome
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).
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
MedGen UID:
902979
Concept ID:
C4225325
Disease or Syndrome
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).
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
MedGen UID:
897127
Concept ID:
C4225326
Disease or Syndrome
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).
Supranuclear palsy, progressive, 1
MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
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.
Mitochondrial complex 1 deficiency, nuclear type 33
MedGen UID:
1648420
Concept ID:
C4748840
Disease or Syndrome
Lethal arthrogryposis-anterior horn cell disease syndrome
MedGen UID:
1677784
Concept ID:
C5193016
Disease or Syndrome
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.
Brain abnormalities, neurodegeneration, and dysosteosclerosis
MedGen UID:
1678789
Concept ID:
C5193117
Disease or Syndrome
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).
Leukoencephalopathy, diffuse hereditary, with spheroids 1
MedGen UID:
1794139
Concept ID:
C5561929
Disease or Syndrome
CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years).
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
MedGen UID:
1840955
Concept ID:
C5830319
Mental or Behavioral Dysfunction
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).

Professional guidelines

PubMed

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
World J Biol Psychiatry 2023 Feb;24(2):79-117. Epub 2022 Jul 28 doi: 10.1080/15622975.2022.2086295. PMID: 35900161
Arnts H, van Erp WS, Lavrijsen JCM, van Gaal S, Groenewegen HJ, van den Munckhof P
Neurosci Biobehav Rev 2020 May;112:270-278. Epub 2020 Feb 7 doi: 10.1016/j.neubiorev.2020.02.006. PMID: 32044373
Ströhle A, Gensichen J, Domschke K
Dtsch Arztebl Int 2018 Sep 14;155(37):611-620. doi: 10.3238/arztebl.2018.0611. PMID: 30282583Free PMC Article

Recent clinical studies

Therapy

Garg D, Mohammad SS, Sharma S
Indian Pediatr 2020 Jul 15;57(7):662-670. PMID: 32727942
Arnts H, van Erp WS, Lavrijsen JCM, van Gaal S, Groenewegen HJ, van den Munckhof P
Neurosci Biobehav Rev 2020 May;112:270-278. Epub 2020 Feb 7 doi: 10.1016/j.neubiorev.2020.02.006. PMID: 32044373
Ströhle A, Gensichen J, Domschke K
Dtsch Arztebl Int 2018 Sep 14;155(37):611-620. doi: 10.3238/arztebl.2018.0611. PMID: 30282583Free PMC Article
Craske MG, Stein MB
Lancet 2016 Dec 17;388(10063):3048-3059. Epub 2016 Jun 24 doi: 10.1016/S0140-6736(16)30381-6. PMID: 27349358
Hua A, Major N
Curr Opin Pediatr 2016 Feb;28(1):114-20. doi: 10.1097/MOP.0000000000000300. PMID: 26709680

Prognosis

Rozenek EB, Orlof W, Nowicka ZM, Wilczyńska K, Waszkiewicz N
Psychiatr Pol 2020 Apr 30;54(2):333-349. doi: 10.12740/PP/OnlineFirst/108503. PMID: 32772064
Garg D, Mohammad SS, Sharma S
Indian Pediatr 2020 Jul 15;57(7):662-670. PMID: 32727942
Hua A, Major N
Curr Opin Pediatr 2016 Feb;28(1):114-20. doi: 10.1097/MOP.0000000000000300. PMID: 26709680
Tamburrini G, Frassanito P, Chieffo D, Massimi L, Caldarelli M, Di Rocco C
Childs Nerv Syst 2015 Oct;31(10):1841-51. Epub 2015 Sep 9 doi: 10.1007/s00381-015-2803-6. PMID: 26351234
McLaughlin MR
Am Fam Physician 2011 May 15;83(10):1183-8. PMID: 21568252

Clinical prediction guides

Thompson AE, Thompson PD
Handb Clin Neurol 2023;196:443-455. doi: 10.1016/B978-0-323-98817-9.00008-9. PMID: 37620084
Rodrigues Pereira C, Ensink JBM, Güldner MG, Lindauer RJL, De Jonge MV, Utens EMWJ
Eur Child Adolesc Psychiatry 2023 Oct;32(10):1821-1839. Epub 2021 Dec 1 doi: 10.1007/s00787-021-01907-2. PMID: 34853909Free PMC Article
Ghali MGZ
Neurosurg Rev 2021 Feb;44(1):61-76. Epub 2019 Dec 5 doi: 10.1007/s10143-019-01190-5. PMID: 31807931
Schmahmann JD
Neurosci Lett 2019 Jan 1;688:62-75. Epub 2018 Jul 8 doi: 10.1016/j.neulet.2018.07.005. PMID: 29997061
Iwasaki Y
Neuropathology 2017 Apr;37(2):174-188. Epub 2016 Dec 28 doi: 10.1111/neup.12355. PMID: 28028861

Recent systematic reviews

Koskela M, Ståhlberg T, Yunus WMAWM, Sourander A
BMC Psychiatry 2023 Oct 24;23(1):779. doi: 10.1186/s12888-023-05279-6. PMID: 37875905Free PMC Article
Slobodin O
Transcult Psychiatry 2023 Apr;60(2):313-331. Epub 2023 Jan 10 doi: 10.1177/13634615221146435. PMID: 36628442
Pettersson SD, Kitlinski M, Miękisiak G, Ali S, Krakowiak M, Szmuda T
J Neurosurg Pediatr 2022 Apr 1;29(4):467-475. Epub 2021 Dec 31 doi: 10.3171/2021.11.PEDS21445. PMID: 34972081
Manassis K, Oerbeck B, Overgaard KR
Eur Child Adolesc Psychiatry 2016 Jun;25(6):571-8. Epub 2015 Nov 9 doi: 10.1007/s00787-015-0794-1. PMID: 26560144
Reed-Berendt R, Phillips B, Picton S, Chumas P, Warren D, Livingston JH, Hughes E, Morrall MC
Childs Nerv Syst 2014 Mar;30(3):375-85. Epub 2014 Jan 23 doi: 10.1007/s00381-014-2356-0. PMID: 24452481

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