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<!--
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||
UID=1853271
|
||
ConceptID=C3687424
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal speech pattern</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853271</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.">C3687424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Neurological speech impairment; Speech impairment</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:0002167">HP:0002167</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">An abnormality in the sound (volume) or cadence (rate) of speech. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet 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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3687424[DISCUI]&test_type=Clinical" ref="ncbi_uid=1853271">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=1853271" ref="ncbi_uid=1853271">V</a></span></span><span class="TLline">Abnormal speech pattern</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/1841539" ref="tree=MeSH" title="MedGen record for Abnormal language feature">Abnormal language feature</a></span><ul><li><span class="matched_ds">Abnormal speech pattern</span><ul><li><span class="TLline"><a href="/medgen/1841527" ref="tree=MeSH" title="MedGen record for Abnormal prosody">Abnormal prosody</a></span><ul><li><span class="TLline"><a href="/medgen/1841565" ref="tree=MeSH" title="MedGen record for Abnormal Intonation">Abnormal Intonation</a></span><ul><li><span class="TLline"><a href="/medgen/536241" ref="tree=MeSH" title="MedGen record for Abnormal pitch">Abnormal pitch</a></span></li><li><span class="TLline"><a href="/medgen/1619845" ref="tree=MeSH" title="MedGen record for Monotonic speech">Monotonic speech</a></span></li><li><span class="TLline"><a href="/medgen/1841542" ref="tree=MeSH" title="MedGen record for Singsong Intonation">Singsong Intonation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842113" ref="tree=MeSH" title="MedGen record for Abnormal speech rhythm">Abnormal speech rhythm</a></span></li><li><span class="TLline"><a href="/medgen/535490" ref="tree=MeSH" title="MedGen record for Pressured speech">Pressured speech</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842008" ref="tree=MeSH" title="MedGen record for Abnormal speech rate">Abnormal speech rate</a></span><ul><li><span class="TLline"><a href="/medgen/548643" ref="tree=MeSH" title="MedGen record for Bradylalia">Bradylalia</a></span></li><li><span class="TLline"><a href="/medgen/1671016" ref="tree=MeSH" title="MedGen record for Tachylalia">Tachylalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842013" ref="tree=MeSH" title="MedGen record for Abnormal speech volume">Abnormal speech volume</a></span><ul><li><span class="TLline"><a href="/medgen/1841970" ref="tree=MeSH" title="MedGen record for Excessively loud speech">Excessively loud speech</a></span></li><li><span class="TLline"><a href="/medgen/1841928" ref="tree=MeSH" title="MedGen record for Excessively quiet speech">Excessively quiet speech</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1809" ref="tree=MeSH" title="MedGen record for Alexia">Alexia</a></span></li><li><span class="TLline"><a href="/medgen/68604" ref="tree=MeSH" title="MedGen record for Anarthria">Anarthria</a></span></li><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/312" ref="tree=MeSH" title="MedGen record for Anomic aphasia">Anomic aphasia</a></span></li><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><ul><li><span class="TLline"><a href="/medgen/907332" ref="tree=MeSH" title="MedGen record for Logopenic progressive aphasia">Logopenic progressive aphasia</a></span></li><li><span class="TLline"><a href="/medgen/148373" ref="tree=MeSH" title="MedGen record for Primary progressive non fluent aphasia">Primary progressive non fluent aphasia</a></span></li><li><span class="TLline"><a href="/medgen/83268" ref="tree=MeSH" title="MedGen record for Semantic dementia">Semantic dementia</a></span></li></ul></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/871222" ref="tree=MeSH" title="MedGen record for Deficit in nonword repetition">Deficit in nonword repetition</a></span></li><li><span class="TLline"><a href="/medgen/8510" ref="tree=MeSH" title="MedGen record for Dysarthria">Dysarthria</a></span><ul><li><span class="TLline"><a href="/medgen/331804" ref="tree=MeSH" title="MedGen record for Nasal dysarthria">Nasal dysarthria</a></span></li><li><span class="TLline"><a href="/medgen/105312" ref="tree=MeSH" title="MedGen record for Spastic dysarthria">Spastic dysarthria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/115942" ref="tree=MeSH" title="MedGen record for Dysgraphia">Dysgraphia</a></span></li><li><span class="TLline"><a href="/medgen/333001" ref="tree=MeSH" title="MedGen record for Incomprehensible speech">Incomprehensible speech</a></span></li><li><span class="TLline"><a href="/medgen/107445" ref="tree=MeSH" title="MedGen record for Loss of speech">Loss of speech</a></span></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/341172" ref="tree=MeSH" title="MedGen record for Poor speech">Poor speech</a></span></li><li><span class="TLline"><a href="/medgen/116113" ref="tree=MeSH" title="MedGen record for Scanning speech">Scanning speech</a></span></li><li><span class="TLline"><a href="/medgen/20981" ref="tree=MeSH" title="MedGen record for Stuttering">Stuttering</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_78653"><div><strong>Gaucher disease type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78653</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.">C0268251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78653">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_87458"><div><strong>Fumarase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87458</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.">C0342770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87458">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_208672"><div><strong>Spondylometaphyseal dysplasia, Golden type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208672</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.">C0796172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_226944"><div><strong>Deficiency of beta-ureidopropionase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226944</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.">C1291512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338828"><div><strong>Dyslexia, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338828</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.">C1851967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). Genetic Heterogeneity of Susceptibility to Dyslexia Additional dyslexia susceptibility loci include DYX2 (600202) on chromosome 6p22, DYX3 (604254) on chromosome 2p16-p15, DYX5 (606896) on chromosome 3p12-q13, DYX6 (606616) on chromosome 18p11.2, DYX8 (608995) on chromosome 1p36-p34, and DYX9 (300509) on chromosome Xq27.3. See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338828">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347622"><div><strong>Huntington disease-like 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347622</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.">C1858114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347622">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349246"><div><strong>Amyotrophic lateral sclerosis type 2, juvenile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349246</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.">C1859807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351228"><div><strong>Alzheimer disease 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351228</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.">C1864828</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351228">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414543"><div><strong>Giacheti syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414543</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.">C2752043</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414543">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_888408"><div><strong>Beta-D-mannosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>888408</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.">C4048196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beta-mannosidosis (MANSB) is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002). The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/888408">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1619876"><div><strong>Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619876</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.">C4540192</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/1619876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648386"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648386</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.">C4721893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1.. The latent stage is characterized by normal early development. 2.. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3.. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social issues. 4.. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648386">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1710973"><div><strong>CEBALID syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710973</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.">C5394044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1710973">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alzheimer disease 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 2, juvenile</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_888408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beta-D-mannosidosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CEBALID syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', 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_226944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of beta-ureidopropionase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyslexia, susceptibility to, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fumarase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type III</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giacheti syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Huntington disease-like 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Golden type</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37452811">AGA Clinical Practice Update on Evaluation and Management of Belching, Abdominal Bloating, and Distention: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moshiree B,
|
||
Drossman D,
|
||
Shaukat A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Sep;165(3):791-800.e3.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1053/j.gastro.2023.04.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37452811" target="_blank">37452811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35138954">Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld RM,
|
||
Tunkel DE,
|
||
Schwartz SR,
|
||
Anne S,
|
||
Bishop CE,
|
||
Chelius DC,
|
||
Hackell J,
|
||
Hunter LL,
|
||
Keppel KL,
|
||
Kim AH,
|
||
Kim TW,
|
||
Levine JM,
|
||
Maksimoski MT,
|
||
Moore DJ,
|
||
Preciado DA,
|
||
Raol NP,
|
||
Vaughan WK,
|
||
Walker EA,
|
||
Monjur TM</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2022 Feb;166(1_suppl):S1-S55.
|
||
doi: 10.1177/01945998211065662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138954" target="_blank">35138954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26832942">Clinical Practice Guideline: Otitis Media with Effusion (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld RM,
|
||
Shin JJ,
|
||
Schwartz SR,
|
||
Coggins R,
|
||
Gagnon L,
|
||
Hackell JM,
|
||
Hoelting D,
|
||
Hunter LL,
|
||
Kummer AW,
|
||
Payne SC,
|
||
Poe DS,
|
||
Veling M,
|
||
Vila PM,
|
||
Walsh SA,
|
||
Corrigan MD</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2016 Feb;154(1 Suppl):S1-S41.
|
||
doi: 10.1177/0194599815623467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26832942" target="_blank">26832942</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20speech%20pattern)%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 (186)</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/37875276">Semi-Automatic Assessment of Vocalization Quality for Children With and Without Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamrick LR,
|
||
Seidl A,
|
||
Kelleher BL</span><br />
|
||
<span class="medgenPMjournal">Am J Intellect Dev Disabil</span>
|
||
2023 Nov 1;128(6):425-448.
|
||
doi: 10.1352/1944-7558-128.6.425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37875276" target="_blank">37875276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31022142">The Postoperative Speech Intelligibility Evaluation of Modified Z-Plasty Palatoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu H,
|
||
Song Q,
|
||
Zou Y,
|
||
He W,
|
||
Wang F</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2019 Jun;30(4):1264-1267.
|
||
doi: 10.1097/SCS.0000000000005546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31022142" target="_blank">31022142</a><a href="/pmc/articles/PMC6716558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25989505">Down syndrome: Cognitive and behavioral functioning across the lifespan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grieco J,
|
||
Pulsifer M,
|
||
Seligsohn K,
|
||
Skotko B,
|
||
Schwartz A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Jun;169(2):135-49.
|
||
Epub 2015 May 18
|
||
doi: 10.1002/ajmg.c.31439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25989505" target="_blank">25989505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9753822">Psychological aspects of cleft lip and palate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner SR,
|
||
Rumsey N,
|
||
Sandy JR</span><br />
|
||
<span class="medgenPMjournal">Eur J Orthod</span>
|
||
1998 Aug;20(4):407-15.
|
||
doi: 10.1093/ejo/20.4.407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9753822" target="_blank">9753822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2069974">Pharyngeal flap surgery in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall CD,
|
||
Golding-Kushner KJ,
|
||
Argamaso RV,
|
||
Strauch B</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
1991 Apr;28(2):179-82; discussion 182-3.
|
||
doi: 10.1597/1545-1569_1991_028_0179_pfsia_2.3.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2069974" target="_blank">2069974</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (2444)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34210802">Management of functional communication, swallowing, cough and related disorders: consensus recommendations for speech and language therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker J,
|
||
Barnett C,
|
||
Cavalli L,
|
||
Dietrich M,
|
||
Dixon L,
|
||
Duffy JR,
|
||
Elias A,
|
||
Fraser DE,
|
||
Freeburn JL,
|
||
Gregory C,
|
||
McKenzie K,
|
||
Miller N,
|
||
Patterson J,
|
||
Roth C,
|
||
Roy N,
|
||
Short J,
|
||
Utianski R,
|
||
van Mersbergen M,
|
||
Vertigan A,
|
||
Carson A,
|
||
Stone J,
|
||
McWhirter L</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2021 Oct;92(10):1112-1125.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1136/jnnp-2021-326767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34210802" target="_blank">34210802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34183557">Management of noncleft velopharyngeal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferson ND,
|
||
Willging JP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Otolaryngol Head Neck Surg</span>
|
||
2021 Aug 1;29(4):283-288.
|
||
doi: 10.1097/MOO.0000000000000735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34183557" target="_blank">34183557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25258296">Tongue tie: the evidence for frenotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brookes A,
|
||
Bowley DM</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2014 Nov;90(11):765-8.
|
||
Epub 2014 Sep 23
|
||
doi: 10.1016/j.earlhumdev.2014.08.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25258296" target="_blank">25258296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4866584">Speech problems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dennis CG</span><br />
|
||
<span class="medgenPMjournal">Aust Dent J</span>
|
||
1967 Dec;12(6):551-3.
|
||
doi: 10.1111/j.1834-7819.1967.tb00881.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4866584" target="_blank">4866584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18879955">Diagnosis and prognosis in cleft palate speech.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">KANTNER CE</span><br />
|
||
<span class="medgenPMjournal">J Speech Disord</span>
|
||
1948 Sep;13(3):211-22.
|
||
doi: 10.1044/jshd.1303.211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18879955" target="_blank">18879955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (1963)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33059460">Quetiapine withdrawal: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monahan K,
|
||
Cuzens-Sutton J,
|
||
Siskind D,
|
||
Kisely S</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Psychiatry</span>
|
||
2021 Aug;55(8):772-783.
|
||
Epub 2020 Oct 16
|
||
doi: 10.1177/0004867420965693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33059460" target="_blank">33059460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32893075">Epilepsy in Angelman syndrome: A scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samanta D</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2021 Jan;43(1):32-44.
|
||
Epub 2020 Sep 4
|
||
doi: 10.1016/j.braindev.2020.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32893075" target="_blank">32893075</a><a href="/pmc/articles/PMC7688500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28101829">Autism Spectrum Disorders - Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mukherjee SB</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2017 Apr;84(4):307-314.
|
||
Epub 2017 Jan 19
|
||
doi: 10.1007/s12098-016-2272-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28101829" target="_blank">28101829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25258296">Tongue tie: the evidence for frenotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brookes A,
|
||
Bowley DM</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2014 Nov;90(11):765-8.
|
||
Epub 2014 Sep 23
|
||
doi: 10.1016/j.earlhumdev.2014.08.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25258296" target="_blank">25258296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17904873">Epilepsy in Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelc K,
|
||
Boyd SG,
|
||
Cheron G,
|
||
Dan B</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2008 Apr;17(3):211-7.
|
||
Epub 2007 Sep 29
|
||
doi: 10.1016/j.seizure.2007.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17904873" target="_blank">17904873</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (580)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222772">Neurodegenerative Cerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal LS</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1409-1434.
|
||
doi: 10.1212/CON.0000000000001180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222772" target="_blank">36222772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34240142">Cerebellar Continuous Theta Burst Stimulation Facilitates Auditory-Vocal Integration in Spinocerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Q,
|
||
Chang Y,
|
||
Liu P,
|
||
Jones JA,
|
||
Chen X,
|
||
Peng D,
|
||
Chen M,
|
||
Wu C,
|
||
Liu H</span><br />
|
||
<span class="medgenPMjournal">Cereb Cortex</span>
|
||
2022 Jan 22;32(3):455-466.
|
||
doi: 10.1093/cercor/bhab222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34240142" target="_blank">34240142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21959961">Surgery for cleft palate and velopharyngeal dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson GD,
|
||
Kirschner RE</span><br />
|
||
<span class="medgenPMjournal">Semin Speech Lang</span>
|
||
2011 May;32(2):179-90.
|
||
Epub 2011 Sep 28
|
||
doi: 10.1055/s-0031-1277720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21959961" target="_blank">21959961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21349887">Silver-Russell syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakeling EL</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2011 Dec;96(12):1156-61.
|
||
Epub 2011 Feb 24
|
||
doi: 10.1136/adc.2010.190165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21349887" target="_blank">21349887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3276098">The well-baby examination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">South-Paul JE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1988 Jan;37(1):167-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3276098" target="_blank">3276098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (981)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32401996">Surgical maxillary advancement and speech resonance: comparison among cleft types.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medeiros-Santana MNL,
|
||
Araújo BMAM,
|
||
Fukushiro AP,
|
||
Trindade IEK,
|
||
Yamashita RP</span><br />
|
||
<span class="medgenPMjournal">Codas</span>
|
||
2020;32(4):e20190152.
|
||
Epub 2020 May 8
|
||
doi: 10.1590/2317-1782/20202019152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32401996" target="_blank">32401996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32364498">Efficient recognition of facial expressions does not require motor simulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vannuscorps G,
|
||
Andres M,
|
||
Caramazza A</span><br />
|
||
<span class="medgenPMjournal">Elife</span>
|
||
2020 May 4;9
|
||
doi: 10.7554/eLife.54687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32364498" target="_blank">32364498</a><a href="/pmc/articles/PMC7217693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28498724">Phonological patterns (templates) in 5p deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garmann NG,
|
||
Kristoffersen KE,
|
||
Simonsen HG</span><br />
|
||
<span class="medgenPMjournal">Clin Linguist Phon</span>
|
||
2018;32(2):101-113.
|
||
Epub 2017 May 12
|
||
doi: 10.1080/02699206.2017.1316775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28498724" target="_blank">28498724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25733227">Nasometry, videofluoroscopy, and the speech pathologist's evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Stadler M,
|
||
Hersh C</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2015;76:7-17.
|
||
Epub 2015 Feb 12
|
||
doi: 10.1159/000368004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25733227" target="_blank">25733227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14804696">Cleft palate speech: an integration of research and clinical observation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDONALD ET,
|
||
BAKER HK</span><br />
|
||
<span class="medgenPMjournal">J Speech Disord</span>
|
||
1951 Mar;16(1):9-20.
|
||
doi: 10.1044/jshd.1601.09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14804696" target="_blank">14804696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (1732)</a></div></div>
|
||
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|
||
|
||
<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">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33131045">Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs EZ,
|
||
Brown K,
|
||
Byler MC,
|
||
D'haenens E,
|
||
Dheedene A,
|
||
Henderson LB,
|
||
Humberson JB,
|
||
van Jaarsveld RH,
|
||
Kanani F,
|
||
Lebel RR,
|
||
Millan F,
|
||
Oegema R,
|
||
Oostra A,
|
||
Parker MJ,
|
||
Rhodes L,
|
||
Saenz M,
|
||
Seaver LH,
|
||
Si Y,
|
||
Vanlander A,
|
||
Vergult S,
|
||
Callewaert B</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Feb;99(2):259-268.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1111/cge.13874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33131045" target="_blank">33131045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33059460">Quetiapine withdrawal: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monahan K,
|
||
Cuzens-Sutton J,
|
||
Siskind D,
|
||
Kisely S</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Psychiatry</span>
|
||
2021 Aug;55(8):772-783.
|
||
Epub 2020 Oct 16
|
||
doi: 10.1177/0004867420965693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33059460" target="_blank">33059460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30680716">Speech and language in bilateral perisylvian polymicrogyria: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braden RO,
|
||
Leventer RJ,
|
||
Jansen A,
|
||
Scheffer IE,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2019 Oct;61(10):1145-1152.
|
||
Epub 2019 Jan 25
|
||
doi: 10.1111/dmcn.14153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680716" target="_blank">30680716</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321454">Parent-mediated interventions for promoting communication and language development in young children with Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Toole C,
|
||
Lee AS,
|
||
Gibbon FE,
|
||
van Bysterveldt AK,
|
||
Hart NJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Oct 15;10(10):CD012089.
|
||
doi: 10.1002/14651858.CD012089.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321454" target="_blank">30321454</a><a href="/pmc/articles/PMC6516877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29751828">Augmentative and alternative communication in children with Down's syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbosa RTA,
|
||
de Oliveira ASB,
|
||
de Lima Antão JYF,
|
||
Crocetta TB,
|
||
Guarnieri R,
|
||
Antunes TPC,
|
||
Arab C,
|
||
Massetti T,
|
||
Bezerra IMP,
|
||
de Mello Monteiro CB,
|
||
de Abreu LC</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2018 May 11;18(1):160.
|
||
doi: 10.1186/s12887-018-1144-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29751828" target="_blank">29751828</a><a href="/pmc/articles/PMC5948828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20speech%20pattern%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 (64)</a></div></div>
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3687424%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (60)</a></li>
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