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Speech apraxia

MedGen UID:
78112
Concept ID:
C0264611
Disease or Syndrome
Synonyms: Apraxia of Phonation; Phonation Apraxia; Phonation Apraxias
SNOMED CT: Apraxia of phonation (74227009); Apraxic aphonia (74227009); Verbal apraxia (74227009); Apraxia of speech (74227009)
 
HPO: HP:0011098

Definition

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [from HPO]

Term Hierarchy

Conditions with this feature

Landau-Kleffner syndrome
MedGen UID:
79465
Concept ID:
C0282512
Disease or Syndrome
GRIN2A-related speech disorders and epilepsy are characterized by speech disorders in all affected individuals and a range of epilepsy syndromes present in about 90%. Severe speech disorders observed can include dysarthria and speech dyspraxia, and both receptive and expressive language delay/regression; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) showing continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Seizure types include seizures associated with aura of perioral paresthesia, focal or focal motor seizures (often evolving to generalized tonic-clonic), and atypical absence seizures. Epilepsy syndromes can include: Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), childhood epilepsy with centrotemporal spikes (CECTS), atypical childhood epilepsy with centrotemporal spikes (ACECTS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), and infantile-onset epileptic encephalopathy.
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
MedGen UID:
337150
Concept ID:
C1845070
Disease or Syndrome
Creatine transporter deficiency
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.
Macrocephaly-autism syndrome
MedGen UID:
381416
Concept ID:
C1854416
Disease or Syndrome
Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).
7q11.23 microduplication syndrome
MedGen UID:
347562
Concept ID:
C1857844
Disease or Syndrome
7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention-deficit/hyperactivity disorder, oppositional disorders, physical aggression, and autism spectrum disorder; and intellectual disability in some individuals. Distinctive facial features are common. Cardiovascular disease includes dilatation of the ascending aorta. Approximately 30% of individuals have one or more congenital anomalies.
Schuurs-Hoeijmakers syndrome
MedGen UID:
767257
Concept ID:
C3554343
Disease or Syndrome
PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills. Hypotonia is reported in about a third of individuals and is noted to improve over time. Approximately 60% of individuals are ambulatory. Feeding difficulty is common, with 25% requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.
Intellectual disability-severe speech delay-mild dysmorphism syndrome
MedGen UID:
862201
Concept ID:
C4013764
Mental or Behavioral Dysfunction
Intellectual developmental disorder with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).
Hypotonia, ataxia, and delayed development syndrome
MedGen UID:
934585
Concept ID:
C4310618
Disease or Syndrome
EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.
Autosomal recessive limb-girdle muscular dystrophy type R18
MedGen UID:
1385598
Concept ID:
C4517996
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Pilarowski-Bjornsson syndrome
MedGen UID:
1619150
Concept ID:
C4540131
Disease or Syndrome
Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018).
Snijders Blok-Campeau syndrome
MedGen UID:
1648495
Concept ID:
C4748701
Disease or Syndrome
Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018).
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
MedGen UID:
1682403
Concept ID:
C5193134
Disease or Syndrome
Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder. Psychosis is observed in a small percentage of individuals over the age of 12 years. Most individuals have nonspecific and mild dysmorphic facial features without a common gestalt. A subset of patients may have involvement of other organ systems, including gastrointestinal with poor early feeding or gastroesophageal reflux, distal skeletal anomalies, and congenital heart defects. Most mutations occur de novo, but rare autosomal dominant inheritance with incomplete penetrance has been observed (Stolerman et al., 2019; Rots et al., 2023).
Intellectual developmental disorder 61
MedGen UID:
1684867
Concept ID:
C5231400
Disease or Syndrome
Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018).
Hao-Fountain syndrome
MedGen UID:
1719035
Concept ID:
C5393908
Disease or Syndrome
Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging (summary by Fountain et al., 2019).
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
MedGen UID:
1787902
Concept ID:
C5543478
Disease or Syndrome
Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities. Eye movement abnormalities may also be present. Brain imaging shows cerebellar atrophy in some patients (summary by Webb et al., 2021).
Marbach-Schaaf neurodevelopmental syndrome
MedGen UID:
1794260
Concept ID:
C5562050
Disease or Syndrome
Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by Marbach et al., 2021).

Professional guidelines

PubMed

St John M, Amor DJ, Morgan AT
Am J Med Genet A 2022 Dec;188(12):3389-3400. Epub 2022 Jul 27 doi: 10.1002/ajmg.a.62899. PMID: 35892268
Teichmann M
Rev Neurol (Paris) 2021 Apr;177(4):370-375. Epub 2021 Feb 19 doi: 10.1016/j.neurol.2020.12.001. PMID: 33618891
Basso A, Cattaneo S, Girelli L, Luzzatti C, Miozzo A, Modena L, Monti A
Eur J Phys Rehabil Med 2011 Mar;47(1):101-21. PMID: 21448123

Recent clinical studies

Etiology

Valls Carbo A, Reid RI, Tosakulwong N, Weigand SD, Duffy JR, Clark HM, Utianski RL, Botha H, Machulda MM, Strand EA, Schwarz CG, Jack CR, Josephs KA, Whitwell JL
Neuroimage Clin 2022;34:102999. Epub 2022 Mar 30 doi: 10.1016/j.nicl.2022.102999. PMID: 35395498Free PMC Article
den Hoed J, Fisher SE
Curr Opin Genet Dev 2020 Dec;65:103-111. Epub 2020 Jul 1 doi: 10.1016/j.gde.2020.05.012. PMID: 32622339
Catsman-Berrevoets C, Patay Z
Handb Clin Neurol 2018;155:273-288. doi: 10.1016/B978-0-444-64189-2.00018-4. PMID: 29891065
Deriziotis P, Fisher SE
Trends Genet 2017 Sep;33(9):642-656. Epub 2017 Aug 3 doi: 10.1016/j.tig.2017.07.002. PMID: 28781152
Basso A, Cattaneo S, Girelli L, Luzzatti C, Miozzo A, Modena L, Monti A
Eur J Phys Rehabil Med 2011 Mar;47(1):101-21. PMID: 21448123

Diagnosis

St John M, Amor DJ, Morgan AT
Am J Med Genet A 2022 Dec;188(12):3389-3400. Epub 2022 Jul 27 doi: 10.1002/ajmg.a.62899. PMID: 35892268
Tomaiuolo F, Campana S, Voci L, Lasaponara S, Doricchi F, Petrides M
Cereb Cortex 2021 Jul 5;31(8):3723-3731. doi: 10.1093/cercor/bhab043. PMID: 33825880
den Hoed J, Fisher SE
Curr Opin Genet Dev 2020 Dec;65:103-111. Epub 2020 Jul 1 doi: 10.1016/j.gde.2020.05.012. PMID: 32622339
Souza TN, Payão Mda C, Costa RC
Pro Fono 2009 Jan-Mar;21(1):76-80. PMID: 19360263
Boutsen FR, Christman SS
Semin Speech Lang 2002 Nov;23(4):245-56. doi: 10.1055/s-2002-35799. PMID: 12461724

Therapy

Pisano F, Caltagirone C, Incoccia C, Marangolo P
Behav Brain Res 2021 Feb 5;399:113019. Epub 2020 Nov 15 doi: 10.1016/j.bbr.2020.113019. PMID: 33207242
You L, Wang Y, Chen W, Zhang S, Rao J, Liu L, Shan C
Eur Neurol 2019;81(5-6):278-286. Epub 2019 Oct 29 doi: 10.1159/000503960. PMID: 31661693
Catsman-Berrevoets C, Patay Z
Handb Clin Neurol 2018;155:273-288. doi: 10.1016/B978-0-444-64189-2.00018-4. PMID: 29891065
Hövels-Gürich HH, Bauer SB, Schnitker R, Willmes-von Hinckeldey K, Messmer BJ, Seghaye MC, Huber W
Eur J Paediatr Neurol 2008 Sep;12(5):378-86. Epub 2008 Jan 24 doi: 10.1016/j.ejpn.2007.10.004. PMID: 18221897
Wijdicks EF, Wiesner RH, Krom RA
Neurology 1995 Nov;45(11):1962-4. doi: 10.1212/wnl.45.11.1962. PMID: 7501141

Prognosis

Lee DJ, Bigio EH, Rogalski EJ, Mesulam MM
J Neuropathol Exp Neurol 2020 Mar 1;79(3):277-283. doi: 10.1093/jnen/nlz132. PMID: 31995205Free PMC Article
Grunho M, Sonies B, Frattali CM, Litvan I
Parkinsonism Relat Disord 2015 Nov;21(11):1342-8. Epub 2015 Sep 26 doi: 10.1016/j.parkreldis.2015.09.043. PMID: 26456115
Flanagan EP, Baker MC, Perkerson RB, Duffy JR, Strand EA, Whitwell JL, Machulda MM, Rademakers R, Josephs KA
Dement Geriatr Cogn Disord 2015;39(5-6):281-6. Epub 2015 Feb 28 doi: 10.1159/000375299. PMID: 25765123Free PMC Article
Hövels-Gürich HH, Bauer SB, Schnitker R, Willmes-von Hinckeldey K, Messmer BJ, Seghaye MC, Huber W
Eur J Paediatr Neurol 2008 Sep;12(5):378-86. Epub 2008 Jan 24 doi: 10.1016/j.ejpn.2007.10.004. PMID: 18221897
Wadia PM, Lang AE
Parkinsonism Relat Disord 2007;13 Suppl 3:S336-40. doi: 10.1016/S1353-8020(08)70027-0. PMID: 18267261

Clinical prediction guides

Valls Carbo A, Reid RI, Tosakulwong N, Weigand SD, Duffy JR, Clark HM, Utianski RL, Botha H, Machulda MM, Strand EA, Schwarz CG, Jack CR, Josephs KA, Whitwell JL
Neuroimage Clin 2022;34:102999. Epub 2022 Mar 30 doi: 10.1016/j.nicl.2022.102999. PMID: 35395498Free PMC Article
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT
Dev Med Child Neurol 2021 Dec;63(12):1417-1426. Epub 2021 Jun 9 doi: 10.1111/dmcn.14955. PMID: 34109629
Grunho M, Sonies B, Frattali CM, Litvan I
Parkinsonism Relat Disord 2015 Nov;21(11):1342-8. Epub 2015 Sep 26 doi: 10.1016/j.parkreldis.2015.09.043. PMID: 26456115
Patay Z
Childs Nerv Syst 2015 Oct;31(10):1853-8. Epub 2015 Jul 5 doi: 10.1007/s00381-015-2796-1. PMID: 26143277
Whitwell JL, Duffy JR, Strand EA, Machulda MM, Senjem ML, Gunter JL, Kantarci K, Eggers SD, Jack CR Jr, Josephs KA
Eur J Neurol 2013 Apr;20(4):629-37. Epub 2012 Oct 18 doi: 10.1111/ene.12004. PMID: 23078273Free PMC Article

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