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<!--
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UID=141568
|
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ConceptID=C0454641
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Expressive language delay</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141568</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.">C0454641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Delayed expressive language</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Developmental expressive language delay (229734008); Expressive developmental language delay (229734008); Expressive language delay (229734008)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002474">HP:0002474</a></td></tr>
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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">A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [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>
|
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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="TLline">Expressive language delay</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/868343" ref="tree=MeSH" title="MedGen record for Neurodevelopmental abnormality">Neurodevelopmental abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/868344" ref="tree=MeSH" title="MedGen record for Neurodevelopmental delay">Neurodevelopmental delay</a></span><ul><li><span class="TLline"><a href="/medgen/105318" ref="tree=MeSH" title="MedGen record for Delayed speech and language development">Delayed speech and language development</a></span><ul><li><span class="matched_ds">Expressive language delay</span><ul><li><span class="TLline"><a href="/medgen/504294" ref="tree=MeSH" title="MedGen record for Mild expressive language delay">Mild expressive language delay</a></span></li><li><span class="TLline"><a href="/medgen/504293" ref="tree=MeSH" title="MedGen record for Moderate expressive language delay">Moderate expressive language delay</a></span></li><li><span class="TLline"><a href="/medgen/376939" ref="tree=MeSH" title="MedGen record for Severe expressive language delay">Severe expressive language delay</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_61232"><div><strong>Sotos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61232</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:">C0175695</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral findings (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_152667"><div><strong>Floating-Harbor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152667</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.">C0729582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374015"><div><strong>Familial developmental dysphasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374015</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.">C1838630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374015">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338273">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481895"><div><strong>Intellectual disability, autosomal recessive 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481895</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.">C3280265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by Trehan et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814630"><div><strong>Chromosome 17p13.3 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814630</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.">C3808300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814630">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906099"><div><strong>Chromosome 10q23 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906099</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.">C4225669</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934595"><div><strong>Optic atrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934595</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.">C4310628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934595">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</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.">C4310774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683985"><div><strong>Mullegama-Klein-Martinez syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683985</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.">C5193008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683985">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750805"><div><strong>Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750805</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.">C5436848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778117"><div><strong>Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778117</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.">C5543623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021). For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778117">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808365"><div><strong>Parkinsonism-dystonia 3, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808365</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.">C5676913</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The current (but limited) understanding of the WARS2 deficiency phenotypic spectrum, based on 29 individuals from 24 families reported to date, can be viewed as a clustering of hallmark features within the broad phenotypes of epilepsy and movement disorder. The epilepsy spectrum encompasses neonatal- or infantile-onset developmental and epileptic encephalopathy (DEE) and other less well described seizure types. DEE manifests mostly in the neonatal period or within the first year of life. Seizures are generally difficult to control and may lead to status epilepticus and death. Over time the following become evident: global developmental delay, mild-to-severe intellectual disability, speech impairment (slurred and slow speech, dysarthria or no speech production but preserved receptive speech), weakness and muscle atrophy, motor hyperactivity with athetosis, and neuropsychiatric manifestations including aggressiveness and sleep disorders. The movement disorder spectrum encompasses the overlapping phenotypes of levodopa-responsive parkinsonism/dystonia and progressive myoclonus-ataxia/hyperkinetic movement disorder and is primarily associated with childhood or early adulthood onset. Of note, the continua within and between the epilepsy spectrum and the movement disorder spectrum remain to be determined pending reporting of more individuals with WARS2 deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808365">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830104"><div><strong>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830104</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.">C5680310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824072"><div><strong>Hyperinsulinemic hypoglycemia, familial, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824072</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.">C5774299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hyperinsulinemic hypoglycemia-8 (HHF8) is an autosomal recessive disorder characterized by protein-related hypoglycemia and persistent mild hyperammonemia (summary by Shahroor et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824072">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841089"><div><strong>Congenital myopathy 22A, classic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841089</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.">C5830453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic congenital myopathy-22A (CMYO22A) is an autosomal recessive muscle disorder characterized by onset of muscle weakness in utero or soon after birth. Early features may include fetal hypokinesia, breech presentation, and polyhydramnios. Affected individuals are born with severe hypotonia and require respiratory and feeding assistance. Those who survive the neonatal period show a 'classic' phenotype of congenital myopathy with delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. Some have persistent respiratory insufficiency; dysmorphic facial features may be present (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841137"><div><strong>Congenital myopathy 22B, severe fetal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841137</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.">C5830501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe fetal congenital myopathy-22B (CMYO22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841185"><div><strong>Nemaline myopathy 5C, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841185</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.">C5830549</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant nemaline myopathy-5C (NEM5C) is a relatively mild skeletal muscle disorder with wide clinical variability, even within families. Affected individuals develop symptoms of muscle weakness in the first or second decades; those with earlier onset tend to have a more severe disease course. Features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Additional features may include myopathic facies, high-arched palate, scoliosis or kyphosis, and ankle weakness. Patients remain ambulatory into late adulthood. Skeletal muscle biopsy shows hypotrophy of type 1 fibers, hypertrophy of type 2 fibers, fiber size variation, and myofibrillar disorganization. Nemaline rods in type 1 fibers are often observed, but are not always present (Konersman et al., 2017; Holling et al., 2022). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841185">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841272"><div><strong>Intellectual developmental disorder, autosomal dominant 73</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841272</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.">C5830636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841272">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845825"><div><strong>Alfadhel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845825</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.">C5882735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alfadhel syndrome (AFDL) is an autosomal recessive neurodevelopmental disorder with features of global developmental delay, hypotonia, and facial dysmorphism (Asiri et al., 2020, Bertoli-Avella et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845825">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alfadhel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 10q23 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17p13.3 duplication syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 22A, classic</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 22B, severe fetal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial developmental dysphasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_152667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Floating-Harbor syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemic hypoglycemia, familial, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 73</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 18</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mullegama-Klein-Martinez syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841185" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 5C, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonism-dystonia 3, childhood-onset</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_61232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sotos syndrome</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></span></div></div>
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</div>
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<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/38377329">Clinical practice guideline: Interventions for Developmental Language Delay and Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neumann K,
|
||
Kauschke C,
|
||
Fox-Boyer A,
|
||
Lüke C,
|
||
Sallat S,
|
||
Kiese-Himmel C</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2024 Mar 8;121(5):155-162.
|
||
doi: 10.3238/arztebl.m2024.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38377329" target="_blank">38377329</a><a href="/pmc/articles/PMC11539890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38050025">Health supervision for children and adolescents with 16p11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chung WK,
|
||
Herrera FF;
|
||
Simon's Searchlight Foundation</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2023 Dec;9(4)
|
||
Epub 2024 Jan 10
|
||
doi: 10.1101/mcs.a006316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38050025" target="_blank">38050025</a><a href="/pmc/articles/PMC10815286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29173721">An Interprofessional Team Approach to the Differential Diagnosis of Children with Language Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XL,
|
||
Zahrt DM,
|
||
Simms MD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2018 Feb;65(1):73-90.
|
||
doi: 10.1016/j.pcl.2017.08.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29173721" target="_blank">29173721</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22expressive%20language%20delay%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/38377329">Clinical practice guideline: Interventions for Developmental Language Delay and Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neumann K,
|
||
Kauschke C,
|
||
Fox-Boyer A,
|
||
Lüke C,
|
||
Sallat S,
|
||
Kiese-Himmel C</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2024 Mar 8;121(5):155-162.
|
||
doi: 10.3238/arztebl.m2024.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38377329" target="_blank">38377329</a><a href="/pmc/articles/PMC11539890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38261038">Screening for Speech and Language Delay and Disorders in Children 5 Years or Younger: Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feltner C,
|
||
Wallace IF,
|
||
Nowell SW,
|
||
Orr CJ,
|
||
Raffa B,
|
||
Middleton JC,
|
||
Vaughan J,
|
||
Baker C,
|
||
Chou R,
|
||
Kahwati L</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Jan 23;331(4):335-351.
|
||
doi: 10.1001/jama.2023.24647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261038" target="_blank">38261038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30105861">SOCIOEMOTIONAL AND BEHAVIORAL PROBLEMS IN TODDLERS WITH LANGUAGE DELAY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thurm A,
|
||
Manwaring SS,
|
||
Cardozo Jimenez C,
|
||
Swineford L,
|
||
Farmer C,
|
||
Gallo R,
|
||
Maeda M</span><br />
|
||
<span class="medgenPMjournal">Infant Ment Health J</span>
|
||
2018 Sep;39(5):569-580.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1002/imhj.21735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30105861" target="_blank">30105861</a><a href="/pmc/articles/PMC6245647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24334229">Toddlers with delayed expressive language: an overview of the characteristics, risk factors and language outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawa VV,
|
||
Spanoudis G</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2014 Feb;35(2):400-7.
|
||
Epub 2013 Dec 14
|
||
doi: 10.1016/j.ridd.2013.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24334229" target="_blank">24334229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11977159">No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vries BB,
|
||
Tyson J,
|
||
Winter RM,
|
||
Malcolm S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2002 Apr 22;109(2):117-20.
|
||
doi: 10.1002/ajmg.10318.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11977159" target="_blank">11977159</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (54)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38377329">Clinical practice guideline: Interventions for Developmental Language Delay and Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neumann K,
|
||
Kauschke C,
|
||
Fox-Boyer A,
|
||
Lüke C,
|
||
Sallat S,
|
||
Kiese-Himmel C</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2024 Mar 8;121(5):155-162.
|
||
doi: 10.3238/arztebl.m2024.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38377329" target="_blank">38377329</a><a href="/pmc/articles/PMC11539890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38261038">Screening for Speech and Language Delay and Disorders in Children 5 Years or Younger: Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feltner C,
|
||
Wallace IF,
|
||
Nowell SW,
|
||
Orr CJ,
|
||
Raffa B,
|
||
Middleton JC,
|
||
Vaughan J,
|
||
Baker C,
|
||
Chou R,
|
||
Kahwati L</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Jan 23;331(4):335-351.
|
||
doi: 10.1001/jama.2023.24647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261038" target="_blank">38261038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29173721">An Interprofessional Team Approach to the Differential Diagnosis of Children with Language Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XL,
|
||
Zahrt DM,
|
||
Simms MD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2018 Feb;65(1):73-90.
|
||
doi: 10.1016/j.pcl.2017.08.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29173721" target="_blank">29173721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11332819">Expressive language delay in a toddler.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein MT,
|
||
Parker S,
|
||
Coplan J,
|
||
Feldman H</span><br />
|
||
<span class="medgenPMjournal">J Dev Behav Pediatr</span>
|
||
2001 Apr;22(2 Suppl):S99-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11332819" target="_blank">11332819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8557839">Expressive language delay in a toddler.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">J Dev Behav Pediatr</span>
|
||
1995 Oct;16(5):371-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8557839" target="_blank">8557839</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38261038">Screening for Speech and Language Delay and Disorders in Children 5 Years or Younger: Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feltner C,
|
||
Wallace IF,
|
||
Nowell SW,
|
||
Orr CJ,
|
||
Raffa B,
|
||
Middleton JC,
|
||
Vaughan J,
|
||
Baker C,
|
||
Chou R,
|
||
Kahwati L</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Jan 23;331(4):335-351.
|
||
doi: 10.1001/jama.2023.24647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261038" target="_blank">38261038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37408377">Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohenour TL,
|
||
Gulsrud A,
|
||
Kasari C</span><br />
|
||
<span class="medgenPMjournal">Autism Res</span>
|
||
2023 Sep;16(9):1739-1749.
|
||
Epub 2023 Jul 5
|
||
doi: 10.1002/aur.2973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37408377" target="_blank">37408377</a><a href="/pmc/articles/PMC10527623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31715605">Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma TK,
|
||
Freire BL,
|
||
Honjo R,
|
||
Dauber A,
|
||
Funari MFA,
|
||
Lerario AM,
|
||
Albuquerque EVA,
|
||
Vasques GA,
|
||
Bertola DR,
|
||
Kim CA,
|
||
Malaquias AC,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2019;92(2):115-123.
|
||
Epub 2019 Nov 12
|
||
doi: 10.1159/000503782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31715605" target="_blank">31715605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30680870">Parent-implemented early language intervention programme for late talkers: parental communicative behaviour change and child language outcomes at 3 and 4 years of age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruythoff-Broekman A,
|
||
Wiefferink C,
|
||
Rieffe C,
|
||
Uilenburg N</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2019 May;54(3):451-464.
|
||
Epub 2019 Jan 24
|
||
doi: 10.1111/1460-6984.12451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680870" target="_blank">30680870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18703544">Parent based language intervention for 2-year-old children with specific expressive language delay: a randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buschmann A,
|
||
Jooss B,
|
||
Rupp A,
|
||
Feldhusen F,
|
||
Pietz J,
|
||
Philippi H</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2009 Feb;94(2):110-6.
|
||
Epub 2008 Aug 14
|
||
doi: 10.1136/adc.2008.141572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18703544" target="_blank">18703544</a><a href="/pmc/articles/PMC2614563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24033652">Markers for persistent specific expressive language delay in 3-4-year-olds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Everitt A,
|
||
Hannaford P,
|
||
Conti-Ramsden G</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2013 Sep-Oct;48(5):534-53.
|
||
Epub 2013 Jul 25
|
||
doi: 10.1111/1460-6984.12028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24033652" target="_blank">24033652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18703544">Parent based language intervention for 2-year-old children with specific expressive language delay: a randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buschmann A,
|
||
Jooss B,
|
||
Rupp A,
|
||
Feldhusen F,
|
||
Pietz J,
|
||
Philippi H</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2009 Feb;94(2):110-6.
|
||
Epub 2008 Aug 14
|
||
doi: 10.1136/adc.2008.141572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18703544" target="_blank">18703544</a><a href="/pmc/articles/PMC2614563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7537345">Nonverbal communication and early language acquisition in children with Down syndrome and in normally developing children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mundy P,
|
||
Kasari C,
|
||
Sigman M,
|
||
Ruskin E</span><br />
|
||
<span class="medgenPMjournal">J Speech Hear Res</span>
|
||
1995 Feb;38(1):157-67.
|
||
doi: 10.1044/jshr.3801.157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7537345" target="_blank">7537345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1651827">Effects of cytomegalovirus hepatitis on growth, development and nervous system of infants. A follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang F,
|
||
Dong YS</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
1991 Feb;104(2):138-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1651827" target="_blank">1651827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2913552">Language growth in children with expressive language delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischel JE,
|
||
Whitehurst GJ,
|
||
Caulfield MB,
|
||
DeBaryshe B</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1989 Feb;83(2):218-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2913552" target="_blank">2913552</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35365979">Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tayeh MK,
|
||
DeVaul J,
|
||
LeSueur K,
|
||
Yang C,
|
||
Bedoyan JK,
|
||
Thomas P,
|
||
Hannibal MC,
|
||
Innis JW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Jul;188(7):2209-2216.
|
||
Epub 2022 Apr 1
|
||
doi: 10.1002/ajmg.a.62752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35365979" target="_blank">35365979</a><a href="/pmc/articles/PMC9321834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31715605">Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma TK,
|
||
Freire BL,
|
||
Honjo R,
|
||
Dauber A,
|
||
Funari MFA,
|
||
Lerario AM,
|
||
Albuquerque EVA,
|
||
Vasques GA,
|
||
Bertola DR,
|
||
Kim CA,
|
||
Malaquias AC,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2019;92(2):115-123.
|
||
Epub 2019 Nov 12
|
||
doi: 10.1159/000503782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31715605" target="_blank">31715605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30753173">Mobile Media Device Use is Associated with Expressive Language Delay in 18-Month-Old Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Heuvel M,
|
||
Ma J,
|
||
Borkhoff CM,
|
||
Koroshegyi C,
|
||
Dai DWH,
|
||
Parkin PC,
|
||
Maguire JL,
|
||
Birken CS;
|
||
TARGet Kids! Collaboration</span><br />
|
||
<span class="medgenPMjournal">J Dev Behav Pediatr</span>
|
||
2019 Feb/Mar;40(2):99-104.
|
||
doi: 10.1097/DBP.0000000000000630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30753173" target="_blank">30753173</a><a href="/pmc/articles/PMC6382042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30105861">SOCIOEMOTIONAL AND BEHAVIORAL PROBLEMS IN TODDLERS WITH LANGUAGE DELAY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thurm A,
|
||
Manwaring SS,
|
||
Cardozo Jimenez C,
|
||
Swineford L,
|
||
Farmer C,
|
||
Gallo R,
|
||
Maeda M</span><br />
|
||
<span class="medgenPMjournal">Infant Ment Health J</span>
|
||
2018 Sep;39(5):569-580.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1002/imhj.21735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30105861" target="_blank">30105861</a><a href="/pmc/articles/PMC6245647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24033652">Markers for persistent specific expressive language delay in 3-4-year-olds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Everitt A,
|
||
Hannaford P,
|
||
Conti-Ramsden G</span><br />
|
||
<span class="medgenPMjournal">Int J Lang Commun Disord</span>
|
||
2013 Sep-Oct;48(5):534-53.
|
||
Epub 2013 Jul 25
|
||
doi: 10.1111/1460-6984.12028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24033652" target="_blank">24033652</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (40)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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">
|
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<div class="nl"><a target="_blank" href="/pubmed/38261038">Screening for Speech and Language Delay and Disorders in Children 5 Years or Younger: Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feltner C,
|
||
Wallace IF,
|
||
Nowell SW,
|
||
Orr CJ,
|
||
Raffa B,
|
||
Middleton JC,
|
||
Vaughan J,
|
||
Baker C,
|
||
Chou R,
|
||
Kahwati L</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Jan 23;331(4):335-351.
|
||
doi: 10.1001/jama.2023.24647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261038" target="_blank">38261038</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Expressive%20language%20delay%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 (1)</a></div></div>
|
||
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|
||
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Expressive%20language%20delay" 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=(%22expressive%20language%20delay%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></ul></div>
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<a href="/pubmed?term=Expressive%20language%20delay%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d55ecb2f30673f7b1c749d">Expressive language delay</a>
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