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<!--
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||
UID=78112
|
||
ConceptID=C0264611
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Speech apraxia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78112</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.">C0264611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Apraxia of Phonation; Phonation Apraxia; Phonation Apraxias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Apraxia of phonation (74227009); Apraxic aphonia (74227009); Verbal apraxia (74227009); Apraxia of speech (74227009)</td></tr>
|
||
<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:0011098">HP:0011098</a></td></tr>
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||
<div class="portlet_content ln">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 <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=C0264611[DISCUI]&test_type=Clinical" ref="ncbi_uid=78112">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=78112" ref="ncbi_uid=78112">V</a></span></span><span class="TLline">Speech apraxia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><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/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/8166" ref="tree=MeSH" title="MedGen record for Apraxia">Apraxia</a></span><ul><li><span class="matched_ds">Speech apraxia</span></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">
|
||
<div class="divPopper rprt" id="rdis_79465"><div><strong>Landau-Kleffner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79465</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.">C0282512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GRIN2A-related disorders encompass a broad phenotypic spectrum that includes developmental delay evolving to intellectual disability (DD/ID), epilepsy, speech and language disorders, movement disorders, and neuropsychiatric disorders. Intellect ranges from normal to profoundly impaired. Observed speech disorders include dysarthria and speech dyspraxia, and both receptive and expressive language delays; 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) abnormalities, including continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Epilepsy is typically focal and ranges from self-limited epilepsy with centrotemporal spikes to developmental and/or epileptic encephalopathies (DEE/EE), including the syndromes of DEE/EE with spike-wave activation in sleep (DEE/EE-SWAS), which include Landau-Kleffner syndrome. Movement disorders occur less frequently and include ataxia, dystonia, and chorea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/79465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337150"><div><strong>Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337150</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.">C1845070</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/337150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337451"><div><strong>Creatine transporter deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337451</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:">C1845862</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337451">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381416"><div><strong>Macrocephaly-autism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381416</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.">C1854416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347562"><div><strong>7q11.23 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347562</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.">C1857844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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 issues 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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347562">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767257"><div><strong>Schuurs-Hoeijmakers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767257</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.">C3554343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862201"><div><strong>Intellectual disability-severe speech delay-mild dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862201</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.">C4013764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FOXP1 syndrome is characterized by delays in early motor and language milestones, mild-to-severe intellectual deficits, speech and language impairment in all individuals regardless of level of cognitive abilities, and behavior abnormalities (including autism spectrum disorder or autistic features, attention-deficit/hyperactivity disorder, anxiety, repetitive behaviors, sleep disturbances, and sensory symptoms). Other common findings are oromotor dysfunction (contributing to speech and feeding difficulties), refractive errors, strabismus, cardiac abnormalities, renal abnormalities, cryptorchidism, hypertonia, hearing loss, and epilepsy. To date, more than 200 individuals have been identified with FOXP1 syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862201">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902184"><div><strong>Syndromic X-linked intellectual disability 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902184</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.">C4225417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934585"><div><strong>Hypotonia, ataxia, and delayed development syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934585</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.">C4310618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385598"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type R18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385598</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.">C4517996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) 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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1619150"><div><strong>Pilarowski-Bjornsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619150</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.">C4540131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648495"><div><strong>Snijders Blok-Campeau syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648495</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.">C4748701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648495">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682403"><div><strong>Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682403</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.">C5193134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684867"><div><strong>Intellectual developmental disorder 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684867</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.">C5231400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787902"><div><strong>Ataxia, intention tremor, and hypotonia syndrome, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787902</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.">C5543478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787902">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794260"><div><strong>Marbach-Schaaf neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794260</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.">C5562050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794260">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1853151"><div><strong>Hao-Fountain syndrome due to USP7 mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853151</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.">C5816734</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/1853151">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">7q11.23 microduplication syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787902" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia, intention tremor, and hypotonia syndrome, childhood-onset</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Creatine transporter deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1853151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hao-Fountain syndrome due to USP7 mutation</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', 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_934585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, ataxia, and delayed development syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder 61</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-severe speech delay-mild dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Landau-Kleffner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly-autism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marbach-Schaaf neurodevelopmental syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pilarowski-Bjornsson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schuurs-Hoeijmakers syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Snijders Blok-Campeau syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 34</a></div></span></div></div>
|
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</div>
|
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|
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<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/35892268">Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">St John M,
|
||
Amor DJ,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Dec;188(12):3389-3400.
|
||
Epub 2022 Jul 27
|
||
doi: 10.1002/ajmg.a.62899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35892268" target="_blank">35892268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21448123">Treatment efficacy of language and calculation disorders and speech apraxia: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basso A,
|
||
Cattaneo S,
|
||
Girelli L,
|
||
Luzzatti C,
|
||
Miozzo A,
|
||
Modena L,
|
||
Monti A</span><br />
|
||
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
|
||
2011 Mar;47(1):101-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21448123" target="_blank">21448123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6209956">Advances in the evaluation and treatment of speech apraxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenbek JC</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1984;42:327-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6209956" target="_blank">6209956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22speech%20apraxia%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 (4)</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/35395498">Tractography of supplementary motor area projections in progressive speech apraxia and aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Neuroimage Clin</span>
|
||
2022;34:102999.
|
||
Epub 2022 Mar 30
|
||
doi: 10.1016/j.nicl.2022.102999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35395498" target="_blank">35395498</a><a href="/pmc/articles/PMC8987652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32622339">Genetic pathways involved in human speech disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
Fisher SE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Genet Dev</span>
|
||
2020 Dec;65:103-111.
|
||
Epub 2020 Jul 1
|
||
doi: 10.1016/j.gde.2020.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32622339" target="_blank">32622339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891065">Cerebellar mutism syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catsman-Berrevoets C,
|
||
Patay Z</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:273-288.
|
||
doi: 10.1016/B978-0-444-64189-2.00018-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891065" target="_blank">29891065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28781152">Speech and Language: Translating the Genome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deriziotis P,
|
||
Fisher SE</span><br />
|
||
<span class="medgenPMjournal">Trends Genet</span>
|
||
2017 Sep;33(9):642-656.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1016/j.tig.2017.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28781152" target="_blank">28781152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21448123">Treatment efficacy of language and calculation disorders and speech apraxia: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basso A,
|
||
Cattaneo S,
|
||
Girelli L,
|
||
Luzzatti C,
|
||
Miozzo A,
|
||
Modena L,
|
||
Monti A</span><br />
|
||
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
|
||
2011 Mar;47(1):101-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21448123" target="_blank">21448123</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Speech%20apraxia%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39412438">The clinical and genetic spectrum of paediatric speech and language disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magielski JH,
|
||
Ruggiero SM,
|
||
Xian J,
|
||
Parthasarathy S,
|
||
Galer PD,
|
||
Ganesan S,
|
||
Back A,
|
||
McKee JL,
|
||
McSalley I,
|
||
Gonzalez AK,
|
||
Morgan A,
|
||
Donaher J,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Feb 3;148(2):663-674.
|
||
doi: 10.1093/brain/awae264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39412438" target="_blank">39412438</a><a href="/pmc/articles/PMC11788197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35892268">Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">St John M,
|
||
Amor DJ,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Dec;188(12):3389-3400.
|
||
Epub 2022 Jul 27
|
||
doi: 10.1002/ajmg.a.62899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35892268" target="_blank">35892268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32622339">Genetic pathways involved in human speech disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
Fisher SE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Genet Dev</span>
|
||
2020 Dec;65:103-111.
|
||
Epub 2020 Jul 1
|
||
doi: 10.1016/j.gde.2020.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32622339" target="_blank">32622339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18267261">The many faces of corticobasal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadia PM,
|
||
Lang AE</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2007;13 Suppl 3:S336-40.
|
||
doi: 10.1016/S1353-8020(08)70027-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18267261" target="_blank">18267261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6209956">Advances in the evaluation and treatment of speech apraxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenbek JC</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1984;42:327-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6209956" target="_blank">6209956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Speech%20apraxia%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 (35)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213666">Presentation, surgical outcome, and supplementary motor area syndrome risk of posterior superior frontal gyrus tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bauman MMJ,
|
||
Jusue-Torres I,
|
||
White JJ,
|
||
Bouchal SM,
|
||
Hsu AR,
|
||
Ha Y,
|
||
Pumford AD,
|
||
Hong S,
|
||
Riviere-Cazaux C,
|
||
Wang K,
|
||
Brown DA,
|
||
Helal A,
|
||
Parney IF</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2025 Jan 1;142(1):162-173.
|
||
Epub 2024 Aug 30
|
||
doi: 10.3171/2024.5.JNS231850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213666" target="_blank">39213666</a><a href="/pmc/articles/PMC11801207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31661693">The Effectiveness of Action Observation Therapy Based on Mirror Neuron Theory in Chinese Patients with Apraxia of Speech after Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">You L,
|
||
Wang Y,
|
||
Chen W,
|
||
Zhang S,
|
||
Rao J,
|
||
Liu L,
|
||
Shan C</span><br />
|
||
<span class="medgenPMjournal">Eur Neurol</span>
|
||
2019;81(5-6):278-286.
|
||
Epub 2019 Oct 29
|
||
doi: 10.1159/000503960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31661693" target="_blank">31661693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29891065">Cerebellar mutism syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catsman-Berrevoets C,
|
||
Patay Z</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;155:273-288.
|
||
doi: 10.1016/B978-0-444-64189-2.00018-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29891065" target="_blank">29891065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24647830">Immediate neurological recovery following perispinal etanercept years after brain injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tobinick E,
|
||
Rodriguez-Romanacce H,
|
||
Levine A,
|
||
Ignatowski TA,
|
||
Spengler RN</span><br />
|
||
<span class="medgenPMjournal">Clin Drug Investig</span>
|
||
2014 May;34(5):361-6.
|
||
doi: 10.1007/s40261-014-0186-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24647830" target="_blank">24647830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11014653">Tacrolimus-associated mutism after orthotopic liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bronster DJ,
|
||
Gurkan A,
|
||
Buchsbaum MS,
|
||
Emre S</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2000 Sep 27;70(6):979-82.
|
||
doi: 10.1097/00007890-200009270-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11014653" target="_blank">11014653</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Speech%20apraxia%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31995205">Speech and Language Presentations of FTLD-TDP Type B Neuropathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee DJ,
|
||
Bigio EH,
|
||
Rogalski EJ,
|
||
Mesulam MM</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
2020 Mar 1;79(3):277-283.
|
||
doi: 10.1093/jnen/nlz132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31995205" target="_blank">31995205</a><a href="/pmc/articles/PMC7036652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26456115">Swallowing disturbances in the corticobasal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grunho M,
|
||
Sonies B,
|
||
Frattali CM,
|
||
Litvan I</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2015 Nov;21(11):1342-8.
|
||
Epub 2015 Sep 26
|
||
doi: 10.1016/j.parkreldis.2015.09.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26456115" target="_blank">26456115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25765123">Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flanagan EP,
|
||
Baker MC,
|
||
Perkerson RB,
|
||
Duffy JR,
|
||
Strand EA,
|
||
Whitwell JL,
|
||
Machulda MM,
|
||
Rademakers R,
|
||
Josephs KA</span><br />
|
||
<span class="medgenPMjournal">Dement Geriatr Cogn Disord</span>
|
||
2015;39(5-6):281-6.
|
||
Epub 2015 Feb 28
|
||
doi: 10.1159/000375299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25765123" target="_blank">25765123</a><a href="/pmc/articles/PMC4879710" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20111977">High-intensity signals in the basal ganglia from gadolinium-enhanced T1-weighted MRI as an early change in toxoplasma encephalitis in an AIDS patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki K,
|
||
Masuya M,
|
||
Matsumoto T,
|
||
Ito N,
|
||
Ohishi K,
|
||
Maeda M,
|
||
Katayama N</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2010 Apr;16(2):135-8.
|
||
Epub 2010 Jan 29
|
||
doi: 10.1007/s10156-010-0026-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20111977" target="_blank">20111977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18267261">The many faces of corticobasal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadia PM,
|
||
Lang AE</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2007;13 Suppl 3:S336-40.
|
||
doi: 10.1016/S1353-8020(08)70027-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18267261" target="_blank">18267261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Speech%20apraxia%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39412438">The clinical and genetic spectrum of paediatric speech and language disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magielski JH,
|
||
Ruggiero SM,
|
||
Xian J,
|
||
Parthasarathy S,
|
||
Galer PD,
|
||
Ganesan S,
|
||
Back A,
|
||
McKee JL,
|
||
McSalley I,
|
||
Gonzalez AK,
|
||
Morgan A,
|
||
Donaher J,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Feb 3;148(2):663-674.
|
||
doi: 10.1093/brain/awae264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39412438" target="_blank">39412438</a><a href="/pmc/articles/PMC11788197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38217867">Longitudinal flortaucipir, metabolism and volume differ between phonetic and prosodic speech apraxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tetzloff KA,
|
||
Martin PR,
|
||
Duffy JR,
|
||
Utianski RL,
|
||
Clark HM,
|
||
Botha H,
|
||
Machulda MM,
|
||
Thu Pham NT,
|
||
Schwarz CG,
|
||
Senjem ML,
|
||
Jack CR Jr,
|
||
Lowe VJ,
|
||
Josephs KA,
|
||
Whitwell JL</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 May 3;147(5):1696-1709.
|
||
doi: 10.1093/brain/awae016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38217867" target="_blank">38217867</a><a href="/pmc/articles/PMC11068100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35395498">Tractography of supplementary motor area projections in progressive speech apraxia and aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Neuroimage Clin</span>
|
||
2022;34:102999.
|
||
Epub 2022 Mar 30
|
||
doi: 10.1016/j.nicl.2022.102999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35395498" target="_blank">35395498</a><a href="/pmc/articles/PMC8987652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34109629">Severe speech impairment is a distinguishing feature of FOXP1-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braden RO,
|
||
Amor DJ,
|
||
Fisher SE,
|
||
Mei C,
|
||
Myers CT,
|
||
Mefford H,
|
||
Gill D,
|
||
Srivastava S,
|
||
Swanson LC,
|
||
Goel H,
|
||
Scheffer IE,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Dec;63(12):1417-1426.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1111/dmcn.14955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34109629" target="_blank">34109629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23078273">Neuroimaging comparison of primary progressive apraxia of speech and progressive supranuclear palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitwell JL,
|
||
Duffy JR,
|
||
Strand EA,
|
||
Machulda MM,
|
||
Senjem ML,
|
||
Gunter JL,
|
||
Kantarci K,
|
||
Eggers SD,
|
||
Jack CR Jr,
|
||
Josephs KA</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2013 Apr;20(4):629-37.
|
||
Epub 2012 Oct 18
|
||
doi: 10.1111/ene.12004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23078273" target="_blank">23078273</a><a href="/pmc/articles/PMC3556348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Speech%20apraxia%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 (22)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0264611%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0264611%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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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=(%22speech%20apraxia%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(%22Speech%20apraxia%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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