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<meta name="keywords" content="C3280415, ciat, cognitive impairment with or without cerebellar ataxia, disease or syndrome, scn8a, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="SCN8A-related epilepsy and/or neurodevelopmental disorders encompasses a spectrum of phenotypes. Epilepsy phenotypes include developmental and epileptic encephalopathy (DEE) associated with severe developmental delays and usually pharmacoresistant epilepsy with multiple seizure types; mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, or intermediate epilepsy) with partially treatable epilepsy; self-limited familial infantile epilepsy (SeLFIE, also known as benign familial infantile epilepsy or BFIE) with normal cognition and medically treatable seizures; neurodevelopmental delays with generalized epilepsy (NDDwGE); and neurodevelopmental disorder without epilepsy (NDDwoE) with mild-to-moderate intellectual disability (though it can be severe in ~10% of affected individuals). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common in some phenotypes. Sudden unexpected death in epilepsy (SUDEP) has been reported in some affected individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=482045
|
||
ConceptID=C3280415
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK379665/bin/scn8a-ee-Image001.gif" src-large="/books/NBK379665/bin/scn8a-ee-Image001.jpg" /></a><br /><a href="/books/NBK379665/figure/scn8a-ee.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK379665/bin/scn8a-ee-Image002.gif" src-large="/books/NBK379665/bin/scn8a-ee-Image002.jpg" /></a><br /><a href="/books/NBK379665/figure/scn8a-ee.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cognitive impairment with or without cerebellar ataxia<span class="h1sub">(CIAT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482045</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:">C3280415</span></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>CIAT</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SCN8A - ID: 6334 - NCBI Gene" href="/gene/6334" class="medgenPMinfo">SCN8A</a> (12q13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013680" target="_blank">MONDO:0013680</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614306" target="_blank">614306</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK379665" target="_blank">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a></div><div>SCN8A-related epilepsy and/or neurodevelopmental disorders encompasses a spectrum of phenotypes. Epilepsy phenotypes include developmental and epileptic encephalopathy (DEE) associated with severe developmental delays and usually pharmacoresistant epilepsy with multiple seizure types; mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, or intermediate epilepsy) with partially treatable epilepsy; self-limited familial infantile epilepsy (SeLFIE, also known as benign familial infantile epilepsy or BFIE) with normal cognition and medically treatable seizures; neurodevelopmental delays with generalized epilepsy (NDDwGE); and neurodevelopmental disorder without epilepsy (NDDwoE) with mild-to-moderate intellectual disability (though it can be severe in ~10% of affected individuals). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common in some phenotypes. Sudden unexpected death in epilepsy (SUDEP) has been reported in some affected individuals. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Summary" target="NBK379665">Summary</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.GeneReview_Scope" target="NBK379665">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Diagnosis" target="NBK379665">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Clinical_Characteristics" target="NBK379665">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Genetically_Related_Allelic_Dis" target="NBK379665">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Differential_Diagnosis" target="NBK379665">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Management" target="NBK379665">Management</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Genetic_Counseling" target="NBK379665">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Resources" target="NBK379665">Resources</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Molecular_Genetics" target="NBK379665">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.Chapter_Notes" target="NBK379665">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK379665#scn8a-ee.References" target="NBK379665">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Michael F Hammer | Maya Xia | John M Schreiber <a href="/books/NBK379665" target="NBK379665" title="NCBI Bookshelf: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_507499"><div><strong>Intellectual disability, borderline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>507499</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.">C0006009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/507499">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20borderline%22%5BClinical%20Features%5D%20OR%20507499%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</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.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370486"><div><strong>Severe temper tantrums</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370486</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.">C4476627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370486">Feature record</a> | <a href="/medgen?term=%22Severe%20temper%20tantrums%22%5BClinical%20Features%5D%20OR%201370486%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8009"><div><strong>Amblyopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8009</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.">C0002418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8009">Feature record</a> | <a href="/medgen?term=%22Amblyopia%22%5BClinical%20Features%5D%20OR%208009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57753"><div><strong>Esophoria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57753</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.">C0152216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57753">Feature record</a> | <a href="/medgen?term=%22Esophoria%22%5BClinical%20Features%5D%20OR%2057753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137901"><div><strong>Optic nerve hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137901</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.">C0338502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137901">Feature record</a> | <a href="/medgen?term=%22Optic%20nerve%20hypoplasia%22%5BClinical%20Features%5D%20OR%20137901%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1808161"><div><strong>Gaze-evoked nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808161</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.">C5574666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus made apparent by looking to the right or to the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808161">Feature record</a> | <a href="/medgen?term=%22Gaze-evoked%20nystagmus%22%5BClinical%20Features%5D%20OR%201808161%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amblyopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophoria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1808161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaze-evoked nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic nerve hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_507499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, borderline</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe temper tantrums</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38233770">Expanding the genotype-phenotype spectrum in SCN8A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebbar M,
|
||
Al-Taweel N,
|
||
Gill I,
|
||
Boelman C,
|
||
Dean RA,
|
||
Goodchild SJ,
|
||
Mezeyova J,
|
||
Shuart NG,
|
||
Johnson JP Jr,
|
||
Lee J,
|
||
Michoulas A,
|
||
Huh LL,
|
||
Armstrong L,
|
||
Connolly MB,
|
||
Demos MK</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2024 Jan 17;24(1):31.
|
||
doi: 10.1186/s12883-023-03478-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38233770" target="_blank">38233770</a><a href="/pmc/articles/PMC10792783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (1)</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/35147548">Post-Stroke Cognitive Impairment: Epidemiology, Risk Factors, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang YY,
|
||
Chen SD,
|
||
Leng XY,
|
||
Kuo K,
|
||
Wang ZT,
|
||
Cui M,
|
||
Tan L,
|
||
Wang K,
|
||
Dong Q,
|
||
Yu JT</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2022;86(3):983-999.
|
||
doi: 10.3233/JAD-215644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35147548" target="_blank">35147548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30336985">An Overview of Cognitive Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morley JE</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2018 Nov;34(4):505-513.
|
||
Epub 2018 Aug 21
|
||
doi: 10.1016/j.cger.2018.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30336985" target="_blank">30336985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30068225">Mild Cognitive Impairment in Clinical Practice: A Review Article.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jongsiriyanyong S,
|
||
Limpawattana P</span><br />
|
||
<span class="medgenPMjournal">Am J Alzheimers Dis Other Demen</span>
|
||
2018 Dec;33(8):500-507.
|
||
Epub 2018 Aug 1
|
||
doi: 10.1177/1533317518791401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30068225" target="_blank">30068225</a><a href="/pmc/articles/PMC10852498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29282327">Practice guideline update summary: Mild cognitive impairment: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen RC,
|
||
Lopez O,
|
||
Armstrong MJ,
|
||
Getchius TSD,
|
||
Ganguli M,
|
||
Gloss D,
|
||
Gronseth GS,
|
||
Marson D,
|
||
Pringsheim T,
|
||
Day GS,
|
||
Sager M,
|
||
Stevens J,
|
||
Rae-Grant A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jan 16;90(3):126-135.
|
||
Epub 2017 Dec 27
|
||
doi: 10.1212/WNL.0000000000004826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29282327" target="_blank">29282327</a><a href="/pmc/articles/PMC5772157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28689566">Mild Cognitive Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanford AM</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2017 Aug;33(3):325-337.
|
||
Epub 2017 May 17
|
||
doi: 10.1016/j.cger.2017.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28689566" target="_blank">28689566</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (71578)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36396270">Cognitive Impairment in Older Adults: Epidemiology, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez Palmer N,
|
||
Trejo Ortega B,
|
||
Joshi P</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
|
||
2022 Dec;45(4):639-661.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1016/j.psc.2022.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36396270" target="_blank">36396270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32949546">Cognitive impairment in multiple sclerosis: clinical management, MRI, and therapeutic avenues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benedict RHB,
|
||
Amato MP,
|
||
DeLuca J,
|
||
Geurts JJG</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Oct;19(10):860-871.
|
||
Epub 2020 Sep 16
|
||
doi: 10.1016/S1474-4422(20)30277-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32949546" target="_blank">32949546</a><a href="/pmc/articles/PMC10011205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30068225">Mild Cognitive Impairment in Clinical Practice: A Review Article.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jongsiriyanyong S,
|
||
Limpawattana P</span><br />
|
||
<span class="medgenPMjournal">Am J Alzheimers Dis Other Demen</span>
|
||
2018 Dec;33(8):500-507.
|
||
Epub 2018 Aug 1
|
||
doi: 10.1177/1533317518791401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30068225" target="_blank">30068225</a><a href="/pmc/articles/PMC10852498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29282327">Practice guideline update summary: Mild cognitive impairment: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen RC,
|
||
Lopez O,
|
||
Armstrong MJ,
|
||
Getchius TSD,
|
||
Ganguli M,
|
||
Gloss D,
|
||
Gronseth GS,
|
||
Marson D,
|
||
Pringsheim T,
|
||
Day GS,
|
||
Sager M,
|
||
Stevens J,
|
||
Rae-Grant A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jan 16;90(3):126-135.
|
||
Epub 2017 Dec 27
|
||
doi: 10.1212/WNL.0000000000004826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29282327" target="_blank">29282327</a><a href="/pmc/articles/PMC5772157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28689566">Mild Cognitive Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanford AM</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2017 Aug;33(3):325-337.
|
||
Epub 2017 May 17
|
||
doi: 10.1016/j.cger.2017.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28689566" target="_blank">28689566</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (54551)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32101639">Cognitive training interventions for dementia and mild cognitive impairment in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orgeta V,
|
||
McDonald KR,
|
||
Poliakoff E,
|
||
Hindle JV,
|
||
Clare L,
|
||
Leroi I</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Feb 26;2(2):CD011961.
|
||
doi: 10.1002/14651858.CD011961.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32101639" target="_blank">32101639</a><a href="/pmc/articles/PMC7043362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30442090">Cognitive dysfunction and migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vuralli D,
|
||
Ayata C,
|
||
Bolay H</span><br />
|
||
<span class="medgenPMjournal">J Headache Pain</span>
|
||
2018 Nov 15;19(1):109.
|
||
doi: 10.1186/s10194-018-0933-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30442090" target="_blank">30442090</a><a href="/pmc/articles/PMC6755588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29345866">Cognitive Impairment in Patients With Depression: Awareness, Assessment, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Culpepper L,
|
||
Lam RW,
|
||
McIntyre RS</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychiatry</span>
|
||
2017 Nov/Dec;78(9):1383-1394.
|
||
doi: 10.4088/JCP.tk16043ah5c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29345866" target="_blank">29345866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27707740">Exercise to prevent falls in older adults: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sherrington C,
|
||
Michaleff ZA,
|
||
Fairhall N,
|
||
Paul SS,
|
||
Tiedemann A,
|
||
Whitney J,
|
||
Cumming RG,
|
||
Herbert RD,
|
||
Close JCT,
|
||
Lord SR</span><br />
|
||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2017 Dec;51(24):1750-1758.
|
||
Epub 2016 Oct 4
|
||
doi: 10.1136/bjsports-2016-096547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27707740" target="_blank">27707740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332672">The Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER): study design and progress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kivipelto M,
|
||
Solomon A,
|
||
Ahtiluoto S,
|
||
Ngandu T,
|
||
Lehtisalo J,
|
||
Antikainen R,
|
||
Bäckman L,
|
||
Hänninen T,
|
||
Jula A,
|
||
Laatikainen T,
|
||
Lindström J,
|
||
Mangialasche F,
|
||
Nissinen A,
|
||
Paajanen T,
|
||
Pajala S,
|
||
Peltonen M,
|
||
Rauramaa R,
|
||
Stigsdotter-Neely A,
|
||
Strandberg T,
|
||
Tuomilehto J,
|
||
Soininen H</span><br />
|
||
<span class="medgenPMjournal">Alzheimers Dement</span>
|
||
2013 Nov;9(6):657-65.
|
||
Epub 2013 Jan 17
|
||
doi: 10.1016/j.jalz.2012.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332672" target="_blank">23332672</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (30263)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39292985">Association of Adherence to a MIND-Style Diet With the Risk of Cognitive Impairment and Decline in the REGARDS Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawyer RP,
|
||
Blair J,
|
||
Shatz R,
|
||
Manly JJ,
|
||
Judd SE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Oct 22;103(8):e209817.
|
||
Epub 2024 Sep 18
|
||
doi: 10.1212/WNL.0000000000209817.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39292985" target="_blank">39292985</a><a href="/pmc/articles/PMC11413742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36028563">The inter-relationship between delirium and dementia: the importance of delirium prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fong TG,
|
||
Inouye SK</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2022 Oct;18(10):579-596.
|
||
Epub 2022 Aug 26
|
||
doi: 10.1038/s41582-022-00698-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36028563" target="_blank">36028563</a><a href="/pmc/articles/PMC9415264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31378643">Cognitive Impairment in CKD: Pathophysiology, Management, and Prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drew DA,
|
||
Weiner DE,
|
||
Sarnak MJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2019 Dec;74(6):782-790.
|
||
Epub 2019 Aug 1
|
||
doi: 10.1053/j.ajkd.2019.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31378643" target="_blank">31378643</a><a href="/pmc/articles/PMC7038648" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24605806">Mild cognitive impairment: a concept in evolution.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Petersen RC,
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Caracciolo B,
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Brayne C,
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Gauthier S,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/24094295">Classification and epidemiology of MCI.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Roberts R,
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<span class="medgenPMjournal">Clin Geriatr Med</span>
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (32507)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35570493">Effect of Probiotic Bifidobacterium breve in Improving Cognitive Function and Preventing Brain Atrophy in Older Patients with Suspected Mild Cognitive Impairment: Results of a 24-Week Randomized, Double-Blind, Placebo-Controlled Trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Asaoka D,
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Xiao J,
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Takeda T,
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Yanagisawa N,
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Yamazaki T,
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Matsubara Y,
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Sugiyama H,
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Endo N,
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Higa M,
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Kasanuki K,
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Ichimiya Y,
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Koido S,
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Ohno K,
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Bernier F,
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Katsumata N,
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Nagahara A,
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Arai H,
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Ohkusa T,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33942449">Diagnostic power of resting-state fMRI for detection of network connectivity in Alzheimer's disease and mild cognitive impairment: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim B,
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Suppiah S,
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Ibrahim N,
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Mohamad M,
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Hassan HA,
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Nasser NS,
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Saripan MI</span><br />
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<span class="medgenPMjournal">Hum Brain Mapp</span>
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2021 Jun 15;42(9):2941-2968.
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Epub 2021 May 4
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doi: 10.1002/hbm.25369.
|
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<span class="bold">PMID: </span><a href="/pubmed/33942449" target="_blank">33942449</a><a href="/pmc/articles/PMC8127155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32623402">Probiotic Bifidobacterium breve in Improving Cognitive Functions of Older Adults with Suspected Mild Cognitive Impairment: A Randomized, Double-Blind, Placebo-Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao J,
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Katsumata N,
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Bernier F,
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Ohno K,
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Yamauchi Y,
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Odamaki T,
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Yoshikawa K,
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Ito K,
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<span class="medgenPMjournal">J Alzheimers Dis</span>
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2020;77(1):139-147.
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/27992895">Is the Montreal Cognitive Assessment (MoCA) test better suited than the Mini-Mental State Examination (MMSE) in mild cognitive impairment (MCI) detection among people aged over 60? Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ciesielska N,
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Sokołowski R,
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Mazur E,
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Podhorecka M,
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Polak-Szabela A,
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<span class="medgenPMjournal">Psychiatr Pol</span>
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2016 Oct 31;50(5):1039-1052.
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<span class="bold">PMID: </span><a href="/pubmed/27992895" target="_blank">27992895</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/25895140">Biomarkers of lipid peroxidation in Alzheimer disease (AD): an update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bradley-Whitman MA,
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<span class="medgenPMjournal">Arch Toxicol</span>
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2015 Jul;89(7):1035-44.
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Epub 2015 Apr 18
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<span class="bold">PMID: </span><a href="/pubmed/25895140" target="_blank">25895140</a><a href="/pmc/articles/PMC4466146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (57614)</a></div></div>
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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>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35680080">Cortical excitability and plasticity in Alzheimer's disease and mild cognitive impairment: A systematic review and meta-analysis of transcranial magnetic stimulation studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chou YH,
|
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Sundman M,
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Ton That V,
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Green J,
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Trapani C</span><br />
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<span class="medgenPMjournal">Ageing Res Rev</span>
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2022 Aug;79:101660.
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Epub 2022 Jun 6
|
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doi: 10.1016/j.arr.2022.101660.
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<span class="bold">PMID: </span><a href="/pubmed/35680080" target="_blank">35680080</a><a href="/pmc/articles/PMC9707650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35633394">Cognitive impairment in people with schizophrenia: an umbrella review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gebreegziabhere Y,
|
||
Habatmu K,
|
||
Mihretu A,
|
||
Cella M,
|
||
Alem A</span><br />
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<span class="medgenPMjournal">Eur Arch Psychiatry Clin Neurosci</span>
|
||
2022 Oct;272(7):1139-1155.
|
||
Epub 2022 May 28
|
||
doi: 10.1007/s00406-022-01416-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35633394" target="_blank">35633394</a><a href="/pmc/articles/PMC9508017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33289311">Pharmacological and non-pharmacological interventions to enhance sleep in mild cognitive impairment and mild Alzheimer's disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blackman J,
|
||
Swirski M,
|
||
Clynes J,
|
||
Harding S,
|
||
Leng Y,
|
||
Coulthard E</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2021 Aug;30(4):e13229.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1111/jsr.13229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33289311" target="_blank">33289311</a><a href="/pmc/articles/PMC8365694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29282327">Practice guideline update summary: Mild cognitive impairment: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen RC,
|
||
Lopez O,
|
||
Armstrong MJ,
|
||
Getchius TSD,
|
||
Ganguli M,
|
||
Gloss D,
|
||
Gronseth GS,
|
||
Marson D,
|
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Pringsheim T,
|
||
Day GS,
|
||
Sager M,
|
||
Stevens J,
|
||
Rae-Grant A</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jan 16;90(3):126-135.
|
||
Epub 2017 Dec 27
|
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doi: 10.1212/WNL.0000000000004826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29282327" target="_blank">29282327</a><a href="/pmc/articles/PMC5772157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24582474">The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marquer A,
|
||
Barbieri G,
|
||
Pérennou D</span><br />
|
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<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2014 Mar;57(2):67-78.
|
||
Epub 2014 Feb 6
|
||
doi: 10.1016/j.rehab.2014.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24582474" target="_blank">24582474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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 (4342)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3280415%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
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<li><a href="/gtr/tests?term=C3280415%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
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<li><a href="/gtr/tests?term=C3280415%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
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<li><a href="/gtr/tests?term=C3280415%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280415%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia%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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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600702" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6334[geneid]" target="_blank">View SCN8A variations in ClinVar</a></li><li><a href="/nuccore/295842445" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614306" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/clinical?term=Cognitive%20impairment%20with%20or%20without%20cerebellar%20ataxia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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