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<meta name="keywords" content="C0023015, disorder of language, language disabilities, language disorder, language disorders, language impairment, mental or behavioral dysfunction, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=44069
|
||
ConceptID=C0023015
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Language disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44069</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:">C0023015</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Disorder of language; Language impairment</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of language (62305002); Language impairment (62305002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002463">HP:0002463</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004750" target="_blank">MONDO:0004750</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. [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>
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<div class="portlet mgSection" id="ID_118">
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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>
|
||
<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=C0023015[DISCUI]&test_type=Clinical" ref="ncbi_uid=44069">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=44069" ref="ncbi_uid=44069">V</a></span></span><span class="TLline">Language disorder</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1052794" ref="tree=MeSH" title="MedGen record for Abnormal cognitive process">Abnormal cognitive process</a></span><ul><li><span class="TLline"><a href="/medgen/1842075" ref="tree=MeSH" title="MedGen record for Abnormal communication">Abnormal communication</a></span><ul><li><span class="matched_ds">Language disorder</span><ul><li><span class="TLline"><a href="/medgen/1790" ref="tree=MeSH" title="MedGen record for Agraphia">Agraphia</a></span></li><li><span class="TLline"><a href="/medgen/312" ref="tree=MeSH" title="MedGen record for Anomic aphasia">Anomic aphasia</a></span></li><li><span class="TLline"><a href="/medgen/870509" ref="tree=MeSH" title="MedGen record for Deficit in grammar">Deficit in grammar</a></span></li><li><span class="TLline"><a href="/medgen/6010" ref="tree=MeSH" title="MedGen record for Developmental language disorder">Developmental language disorder</a></span><ul><li><span class="TLline"><a href="/medgen/627772" ref="tree=MeSH" title="MedGen record for Specific language impairment">Specific language impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96906" ref="tree=MeSH" title="MedGen record for Dyslexia">Dyslexia</a></span><ul><li><span class="TLline"><a href="/medgen/3936" ref="tree=MeSH" title="MedGen record for Dyslexia, Acquired">Dyslexia, Acquired</a></span><ul><li><span class="TLline"><a href="/medgen/155643" ref="tree=MeSH" title="MedGen record for Alexia without agraphia">Alexia without agraphia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/452300" ref="tree=MeSH" title="MedGen record for expressive language disorder">expressive language disorder</a></span></li><li><span class="TLline"><a href="/medgen/452301" ref="tree=MeSH" title="MedGen record for mixed receptive-expressive language disorder">mixed receptive-expressive language disorder</a></span></li><li><span class="TLline"><a href="/medgen/881467" ref="tree=MeSH" title="MedGen record for Phonological disorder">Phonological disorder</a></span><ul><li><span class="TLline"><a href="/medgen/155864" ref="tree=MeSH" title="MedGen record for Phonophobia">Phonophobia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400736" ref="tree=MeSH" title="MedGen record for Speech articulation difficulties">Speech articulation difficulties</a></span><ul><li><span class="TLline"><a href="/medgen/1853248" ref="tree=MeSH" title="MedGen record for Pronunciation difficulties">Pronunciation difficulties</a></span><ul><li><span class="TLline"><a href="/medgen/1853201" ref="tree=MeSH" title="MedGen record for Consonant expressive impediment">Consonant expressive impediment</a></span></li><li><span class="TLline"><a href="/medgen/1853187" ref="tree=MeSH" title="MedGen record for Vowel expressive impediment">Vowel expressive impediment</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/11531" ref="tree=MeSH" title="MedGen record for Speech disorder">Speech disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8159" ref="tree=MeSH" title="MedGen record for Aphasia">Aphasia</a></span><ul><li><span class="TLline"><a href="/medgen/307140" ref="tree=MeSH" title="MedGen record for Aphasia, Wernicke">Aphasia, Wernicke</a></span></li><li><span class="TLline"><a href="/medgen/1784421" ref="tree=MeSH" title="MedGen record for Bilingual aphasia">Bilingual aphasia</a></span></li><li><span class="TLline"><a href="/medgen/66702" ref="tree=MeSH" title="MedGen record for Conduction aphasia">Conduction aphasia</a></span></li><li><span class="TLline"><a href="/medgen/214592" ref="tree=MeSH" title="MedGen record for Expressive aphasia">Expressive aphasia</a></span></li><li><span class="TLline"><a href="/medgen/1622" ref="tree=MeSH" title="MedGen record for Motor aphasia">Motor aphasia</a></span></li><li><span class="TLline"><a href="/medgen/79466" ref="tree=MeSH" title="MedGen record for Primary progressive aphasia">Primary progressive aphasia</a></span></li><li><span class="TLline"><a href="/medgen/141566" ref="tree=MeSH" title="MedGen record for Receptive aphasia">Receptive aphasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2081" ref="tree=MeSH" title="MedGen record for articulation disorder">articulation disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8510" ref="tree=MeSH" title="MedGen record for Dysarthria">Dysarthria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/282893" ref="tree=MeSH" title="MedGen record for Dysphonia">Dysphonia</a></span></li><li><span class="TLline"><a href="/medgen/8532" ref="tree=MeSH" title="MedGen record for Echolalia">Echolalia</a></span><ul><li><span class="TLline"><a href="/medgen/1841793" ref="tree=MeSH" title="MedGen record for Delayed Echolalia">Delayed Echolalia</a></span></li><li><span class="TLline"><a href="/medgen/1841920" ref="tree=MeSH" title="MedGen record for Immediate Echolalia">Immediate Echolalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6476" ref="tree=MeSH" title="MedGen record for Mutism">Mutism</a></span><ul><li><span class="TLline"><a href="/medgen/116023" ref="tree=MeSH" title="MedGen record for Selective mutism">Selective mutism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20981" ref="tree=MeSH" title="MedGen record for Stuttering">Stuttering</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892986" ref="tree=MeSH" title="MedGen record for Spoken word recognition deficit">Spoken word recognition deficit</a></span></li><li><span class="TLline"><a href="/medgen/535439" ref="tree=MeSH" title="MedGen record for Word salad">Word salad</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_116020"><div><strong>Pick disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116020</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.">C0236642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/116020">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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.">C0338451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335078"><div><strong>X-linked sideroblastic anemia with ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335078</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.">C1845028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia (SCAX6) is an X-linked recessive disorder characterized by delayed motor development apparent in infancy with delayed walking (often by several years) due to ataxia and poor coordination. Additional features may include dysmetria, dysarthria, spasticity of the lower limbs, hyperreflexia, dysdiadochokinesis, strabismus, and nystagmus. The disorder is slowly progressive, and patients often lose ambulation. Brain imaging usually shows cerebellar atrophy. Most affected individuals have mild hypochromic, microcytic sideroblastic anemia, which may be asymptomatic. Laboratory studies show increased free erythrocyte protoporphyrin (FEP) and ringed sideroblasts on bone marrow biopsy. Female carriers do not have neurologic abnormalities, but may have subtle findings on peripheral blood smear (Pagon et al., 1985; D'Hooghe et al., 2012). For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/335078">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_338273"><div><strong>Specific language impairment 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338273</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.">C1847605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Specific language impairment (SLI) is diagnosed in children who exhibit significant language deficits despite adequate educational opportunity and normal nonverbal intelligence. SLI2 represents a locus influencing language-related traits on chromosome 19q (SLI Consortium, 2002, SLI Consortium, 2004). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338273">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_339804"><div><strong>Specific language impairment 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339804</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.">C1847614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by Newbury et al., 2009). Genetic Heterogeneity of Specific Language Impairment Multiple loci for specific language impairment have been mapped, including SLI1 on chromosome 16q; SLI2 (606712) on chromosome 19q; SLI3 (607134) on chromosome 13q21; SLI4 (612514) on chromosome 7q35-36; and SLI5 (615432), caused by mutation in the TM4SF20 gene (615404) on chromosome 2q36.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/339804">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_409857"><div><strong>Intellectual disability, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409857</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.">C1969562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/409857">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_382611"><div><strong>Intellectual disability, autosomal dominant 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382611</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.">C2675473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (=50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382611">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_413258"><div><strong>Cortical dysplasia-focal epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413258</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.">C2750246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/413258">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_444010"><div><strong>Potocki-Lupski syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444010</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.">C2931246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766992"><div><strong>Branched-chain keto acid dehydrogenase kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766992</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.">C3554078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766992">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767362"><div><strong>Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767362</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.">C3554448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by Shieh et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767362">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_815813"><div><strong>Specific language impairment 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815813</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.">C3809483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Specific language impairment-5 (SLI5) is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815813">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_816735"><div><strong>Polymicrogyria, bilateral perisylvian, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816735</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.">C3810405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-14B (CDCBM14B) is an autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have variable intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/816735">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/862201">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902979"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902979">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_897127"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/897127">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_935014"><div><strong>Chromosome 11p13 deletion syndrome, distal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>935014</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.">C4311047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/935014">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branched-chain keto acid dehydrogenase kinase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_935014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 11p13 deletion syndrome, distal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia-focal epilepsy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 3</a></div><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_902979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 5</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pick disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria, bilateral perisylvian, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Lupski syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific language impairment 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific language impairment 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific language impairment 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked sideroblastic anemia with ataxia</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39281082">AI-assisted assessment and treatment of aphasia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong X</span><br />
|
||
<span class="medgenPMjournal">Front Public Health</span>
|
||
2024;12:1401240.
|
||
Epub 2024 Aug 29
|
||
doi: 10.3389/fpubh.2024.1401240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39281082" target="_blank">39281082</a><a href="/pmc/articles/PMC11394183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33522291">Treatment intensity for developmental language disorder: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Segura-Pujol H,
|
||
Briones-Rojas C</span><br />
|
||
<span class="medgenPMjournal">Int J Speech Lang Pathol</span>
|
||
2021 Oct;23(5):465-474.
|
||
Epub 2021 Feb 1
|
||
doi: 10.1080/17549507.2020.1856412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33522291" target="_blank">33522291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26232465">Autism, Language Disorder, and Social (Pragmatic) Communication Disorder: DSM-V and Differential Diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simms MD,
|
||
Jin XM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2015 Aug;36(8):355-62; quiz 363.
|
||
doi: 10.1542/pir.36-8-355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26232465" target="_blank">26232465</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22language%20disorder%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 (47)</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/38777351">Association between exposure to antibiotics during pregnancy or early infancy and risk of autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi A,
|
||
Lee H,
|
||
Jeong HE,
|
||
Lee SY,
|
||
Kwon JS,
|
||
Han JY,
|
||
Choe YJ,
|
||
Shin JY</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 May 22;385:e076885.
|
||
doi: 10.1136/bmj-2023-076885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38777351" target="_blank">38777351</a><a href="/pmc/articles/PMC11109903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32755505">How We Fail Children With Developmental Language Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGregor KK</span><br />
|
||
<span class="medgenPMjournal">Lang Speech Hear Serv Sch</span>
|
||
2020 Oct 2;51(4):981-992.
|
||
Epub 2020 Aug 5
|
||
doi: 10.1044/2020_LSHSS-20-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32755505" target="_blank">32755505</a><a href="/pmc/articles/PMC7842848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28369935">Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bishop DVM,
|
||
Snowling MJ,
|
||
Thompson PA,
|
||
Greenhalgh T;
|
||
and the CATALISE-2 consortium</span><br />
|
||
<span class="medgenPMjournal">J Child Psychol Psychiatry</span>
|
||
2017 Oct;58(10):1068-1080.
|
||
Epub 2017 Mar 30
|
||
doi: 10.1111/jcpp.12721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28369935" target="_blank">28369935</a><a href="/pmc/articles/PMC5638113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25022340">Behavioral assessment of language brain processing in the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guzzetta F</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2014 Sep;18(5):551-7.
|
||
Epub 2014 May 9
|
||
doi: 10.1016/j.ejpn.2014.04.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022340" target="_blank">25022340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2422582">The description and interpretation of aphasic language disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JC</span><br />
|
||
<span class="medgenPMjournal">Neuropsychologia</span>
|
||
1986;24(1):5-24.
|
||
doi: 10.1016/0028-3932(86)90040-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2422582" target="_blank">2422582</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%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 (934)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38423722">Profound Autism: An Imperative Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wachtel LE,
|
||
Escher J,
|
||
Halladay A,
|
||
Lutz A,
|
||
Satriale GM,
|
||
Westover A,
|
||
Lopez-Arvizu C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2024 Apr;71(2):301-313.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1016/j.pcl.2023.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38423722" target="_blank">38423722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36428270">Language intervention in bilingual children with developmental language disorder: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kk Nair V,
|
||
Clark GT,
|
||
Siyambalapitiya S,
|
||
Reuterskiöld C</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2023 Mar;58(2):576-600.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1111/1460-6984.12803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36428270" target="_blank">36428270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29960970">Adult-onset epileptic aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques Mendes E,
|
||
Mendes A,
|
||
Ribeiro C,
|
||
Guerra D</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Jun 29;2018
|
||
doi: 10.1136/bcr-2018-225563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29960970" target="_blank">29960970</a><a href="/pmc/articles/PMC6040549" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28577608">Intellectual Disability and Language Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrus N,
|
||
Hall L</span><br />
|
||
<span class="medgenPMjournal">Child Adolesc Psychiatr Clin N Am</span>
|
||
2017 Jul;26(3):539-554.
|
||
doi: 10.1016/j.chc.2017.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28577608" target="_blank">28577608</a><a href="/pmc/articles/PMC5801738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21568252">Speech and language delay in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McLaughlin MR</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2011 May 15;83(10):1183-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21568252" target="_blank">21568252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%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 (808)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35343998">Association of Antipsychotic Drug Exposure in Pregnancy With Risk of Neurodevelopmental Disorders: A National Birth Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straub L,
|
||
Hernández-Díaz S,
|
||
Bateman BT,
|
||
Wisner KL,
|
||
Gray KJ,
|
||
Pennell PB,
|
||
Lester B,
|
||
McDougle CJ,
|
||
Suarez EA,
|
||
Zhu Y,
|
||
Zakoul H,
|
||
Mogun H,
|
||
Huybrechts KF</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2022 May 1;182(5):522-533.
|
||
doi: 10.1001/jamainternmed.2022.0375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35343998" target="_blank">35343998</a><a href="/pmc/articles/PMC8961398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33231117">Diagnosing and managing post-stroke aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SM,
|
||
Sebastian R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Feb;21(2):221-234.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1080/14737175.2020.1855976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33231117" target="_blank">33231117</a><a href="/pmc/articles/PMC7880889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31397288">Self-managed, computerised speech and language therapy for patients with chronic aphasia post-stroke compared with usual care or attention control (Big CACTUS): a multicentre, single-blinded, randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer R,
|
||
Dimairo M,
|
||
Cooper C,
|
||
Enderby P,
|
||
Brady M,
|
||
Bowen A,
|
||
Latimer N,
|
||
Julious S,
|
||
Cross E,
|
||
Alshreef A,
|
||
Harrison M,
|
||
Bradley E,
|
||
Witts H,
|
||
Chater T</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Sep;18(9):821-833.
|
||
doi: 10.1016/S1474-4422(19)30192-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31397288" target="_blank">31397288</a><a href="/pmc/articles/PMC6700375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31107508">Association of Parent Training With Child Language Development: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts MY,
|
||
Curtis PR,
|
||
Sone BJ,
|
||
Hampton LH</span><br />
|
||
<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2019 Jul 1;173(7):671-680.
|
||
doi: 10.1001/jamapediatrics.2019.1197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31107508" target="_blank">31107508</a><a href="/pmc/articles/PMC6537769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29960970">Adult-onset epileptic aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques Mendes E,
|
||
Mendes A,
|
||
Ribeiro C,
|
||
Guerra D</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Jun 29;2018
|
||
doi: 10.1136/bcr-2018-225563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29960970" target="_blank">29960970</a><a href="/pmc/articles/PMC6040549" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%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 (131)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34375772">Long-term medication for ADHD and development of cognitive functions in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson M,
|
||
Åsberg Johnels J,
|
||
Östlund S,
|
||
Cedergren K,
|
||
Omanovic Z,
|
||
Hjalmarsson K,
|
||
Jakobsson K,
|
||
Högstedt J,
|
||
Billstedt E</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2021 Oct;142:204-209.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1016/j.jpsychires.2021.07.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34375772" target="_blank">34375772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28369935">Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bishop DVM,
|
||
Snowling MJ,
|
||
Thompson PA,
|
||
Greenhalgh T;
|
||
and the CATALISE-2 consortium</span><br />
|
||
<span class="medgenPMjournal">J Child Psychol Psychiatry</span>
|
||
2017 Oct;58(10):1068-1080.
|
||
Epub 2017 Mar 30
|
||
doi: 10.1111/jcpp.12721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28369935" target="_blank">28369935</a><a href="/pmc/articles/PMC5638113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25022340">Behavioral assessment of language brain processing in the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guzzetta F</span><br />
|
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
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2014 Sep;18(5):551-7.
|
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Epub 2014 May 9
|
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doi: 10.1016/j.ejpn.2014.04.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022340" target="_blank">25022340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21568252">Speech and language delay in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McLaughlin MR</span><br />
|
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<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2011 May 15;83(10):1183-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21568252" target="_blank">21568252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7538647">Crossed aphasia. An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastronardi L,
|
||
Ferrante L,
|
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Maleci A,
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Puzzilli F,
|
||
Lunardi P,
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Schettini G</span><br />
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<span class="medgenPMjournal">Neurosurg Rev</span>
|
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1994;17(4):299-304.
|
||
doi: 10.1007/BF00306822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7538647" target="_blank">7538647</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%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 (343)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38777351">Association between exposure to antibiotics during pregnancy or early infancy and risk of autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi A,
|
||
Lee H,
|
||
Jeong HE,
|
||
Lee SY,
|
||
Kwon JS,
|
||
Han JY,
|
||
Choe YJ,
|
||
Shin JY</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 May 22;385:e076885.
|
||
doi: 10.1136/bmj-2023-076885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38777351" target="_blank">38777351</a><a href="/pmc/articles/PMC11109903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35649166">Assessment fidelity of a language screening instrument for 4-year-olds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahlén J,
|
||
Drevenhorn E,
|
||
Kalnak N</span><br />
|
||
<span class="medgenPMjournal">Logoped Phoniatr Vocol</span>
|
||
2023 Dec;48(4):189-196.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1080/14015439.2022.2081874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35649166" target="_blank">35649166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34375772">Long-term medication for ADHD and development of cognitive functions in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson M,
|
||
Åsberg Johnels J,
|
||
Östlund S,
|
||
Cedergren K,
|
||
Omanovic Z,
|
||
Hjalmarsson K,
|
||
Jakobsson K,
|
||
Högstedt J,
|
||
Billstedt E</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2021 Oct;142:204-209.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1016/j.jpsychires.2021.07.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34375772" target="_blank">34375772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32324324">Cohesion of Cortical Language Networks During Word Processing Is Predicted by a Common Polymorphism in the SETBP1 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rakhlin N,
|
||
Landi N,
|
||
Lee M,
|
||
Magnuson JS,
|
||
Naumova OY,
|
||
Ovchinnikova IV,
|
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Grigorenko EL</span><br />
|
||
<span class="medgenPMjournal">New Dir Child Adolesc Dev</span>
|
||
2020 Jan;2020(169):131-155.
|
||
doi: 10.1002/cad.20331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32324324" target="_blank">32324324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28651822">Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi LL,
|
||
Simpson CB,
|
||
Hapner ER,
|
||
Jinnah HA,
|
||
Johns MM 3rd</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2018 Mar;32(2):234-238.
|
||
Epub 2017 Jun 23
|
||
doi: 10.1016/j.jvoice.2017.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28651822" target="_blank">28651822</a><a href="/pmc/articles/PMC5931712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%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 (620)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36428270">Language intervention in bilingual children with developmental language disorder: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kk Nair V,
|
||
Clark GT,
|
||
Siyambalapitiya S,
|
||
Reuterskiöld C</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2023 Mar;58(2):576-600.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1111/1460-6984.12803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36428270" target="_blank">36428270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35841339">Language disorder and internalizing mental health problems in youth offenders: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zupan B,
|
||
Hutchings SM,
|
||
Everitt LE,
|
||
Gupta C</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2022 Nov;57(6):1207-1228.
|
||
Epub 2022 Jul 16
|
||
doi: 10.1111/1460-6984.12759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35841339" target="_blank">35841339</a><a href="/pmc/articles/PMC9796836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33522291">Treatment intensity for developmental language disorder: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Segura-Pujol H,
|
||
Briones-Rojas C</span><br />
|
||
<span class="medgenPMjournal">Int J Speech Lang Pathol</span>
|
||
2021 Oct;23(5):465-474.
|
||
Epub 2021 Feb 1
|
||
doi: 10.1080/17549507.2020.1856412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33522291" target="_blank">33522291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31107508">Association of Parent Training With Child Language Development: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts MY,
|
||
Curtis PR,
|
||
Sone BJ,
|
||
Hampton LH</span><br />
|
||
<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2019 Jul 1;173(7):671-680.
|
||
doi: 10.1001/jamapediatrics.2019.1197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31107508" target="_blank">31107508</a><a href="/pmc/articles/PMC6537769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20844275">Auditory processing disorder and auditory/language interventions: an evidence-based systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fey ME,
|
||
Richard GJ,
|
||
Geffner D,
|
||
Kamhi AG,
|
||
Medwetsky L,
|
||
Paul D,
|
||
Ross-Swain D,
|
||
Wallach GP,
|
||
Frymark T,
|
||
Schooling T</span><br />
|
||
<span class="medgenPMjournal">Lang Speech Hear Serv Sch</span>
|
||
2011 Jul;42(3):246-64.
|
||
Epub 2010 Sep 15
|
||
doi: 10.1044/0161-1461(2010/10-0013).
|
||
<span class="bold">PMID: </span><a href="/pubmed/20844275" target="_blank">20844275</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Language%20disorder%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (45)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
|
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0023015%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023015%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023015%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Language%20disorder" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22language%20disorder%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(%22Language%20disorder%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Language%20disorder" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Language%20disorder" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Language%20disorder%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=44069" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0023015[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0023015[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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