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<meta name="keywords" content="C4023013, mental or behavioral dysfunction, stereotypical body rocking, 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="Habitual repetitive movement of the entire body, front to back or side to side." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868614
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ConceptID=C4023013
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stereotypical body rocking</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868614</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:">C4023013</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012172">HP:0012172</a></td></tr>
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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">Habitual repetitive movement of the entire body, front to back or side to side. [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="TLline">Stereotypical body rocking</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/98386" ref="tree=MeSH" title="MedGen record for Neurological finding">Neurological finding</a></span><ul><li><span class="TLline"><a href="/medgen/21318" ref="tree=MeSH" title="MedGen record for Motor stereotypies">Motor stereotypies</a></span><ul><li><span class="TLline"><a href="/medgen/1842149" ref="tree=MeSH" title="MedGen record for Stereotypic whole-body movements">Stereotypic whole-body movements</a></span><ul><li><span class="matched_ds">Stereotypical body rocking</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_155512"><div><strong>FRAXE</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155512</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.">C0751157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155512">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813060"><div><strong>X-linked intellectual disability, Cantagrel type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813060</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.">C3806730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934595"><div><strong>Optic atrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934595</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934595">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647077"><div><strong>Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647077</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.">C4693405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">FRAXE</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, Cantagrel type</a></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/29717363">Oromandibular dystonia screening questionnaire for differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2019 Jan;23(1):405-411.
|
||
Epub 2018 May 2
|
||
doi: 10.1007/s00784-018-2449-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29717363" target="_blank">29717363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19170198">The management of tics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shprecher D,
|
||
Kurlan R</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2009 Jan 15;24(1):15-24.
|
||
doi: 10.1002/mds.22378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19170198" target="_blank">19170198</a><a href="/pmc/articles/PMC2701289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3058788">The clinical recognition and differential diagnosis of Rett syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trevathan E,
|
||
Naidu S</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1988;3 Suppl:S6-16.
|
||
doi: 10.1177/0883073888003001s03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3058788" target="_blank">3058788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(stereotypical%20body%20rocking)%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 (26)</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/31655964">Prevalence and Risk-Markers of Self-Harm in Autistic Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licence L,
|
||
Oliver C,
|
||
Moss J,
|
||
Richards C</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2020 Oct;50(10):3561-3574.
|
||
doi: 10.1007/s10803-019-04260-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31655964" target="_blank">31655964</a><a href="/pmc/articles/PMC7502049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27498241">Adult-onset stereotypical motor behaviors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maltête D</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2016 Aug-Sep;172(8-9):477-482.
|
||
Epub 2016 Aug 3
|
||
doi: 10.1016/j.neurol.2016.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27498241" target="_blank">27498241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20564735">Developmental and benign movement disorders in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnet C,
|
||
Roubertie A,
|
||
Doummar D,
|
||
Bahi-Buisson N,
|
||
Cochen de Cock V,
|
||
Roze E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2010 Jul 30;25(10):1317-34.
|
||
doi: 10.1002/mds.22944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20564735" target="_blank">20564735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19532036">Motor stereotypy disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muthugovindan D,
|
||
Singer H</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2009 Apr;22(2):131-6.
|
||
doi: 10.1097/WCO.0b013e328326f6c8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19532036" target="_blank">19532036</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19501335">Motor stereotypies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singer HS</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2009 Jun;16(2):77-81.
|
||
doi: 10.1016/j.spen.2009.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19501335" target="_blank">19501335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (168)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29735112">Stereotypic Movement Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katherine M</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2018 Apr;25:19-24.
|
||
Epub 2017 Dec 26
|
||
doi: 10.1016/j.spen.2017.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29735112" target="_blank">29735112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26209715">Leg stereotypy disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2016 Feb;87(2):220-1.
|
||
Epub 2015 Jul 24
|
||
doi: 10.1136/jnnp-2015-310816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26209715" target="_blank">26209715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20949251">Stereotypical movements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delafield-Butt JT</span><br />
|
||
<span class="medgenPMjournal">Clin Ter</span>
|
||
2010;161(5):487-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20949251" target="_blank">20949251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19501335">Motor stereotypies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singer HS</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2009 Jun;16(2):77-81.
|
||
doi: 10.1016/j.spen.2009.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19501335" target="_blank">19501335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19170198">The management of tics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shprecher D,
|
||
Kurlan R</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2009 Jan 15;24(1):15-24.
|
||
doi: 10.1002/mds.22378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19170198" target="_blank">19170198</a><a href="/pmc/articles/PMC2701289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (298)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28837991">The Role of Iron in Pediatric Restless Legs Syndrome and Periodic Limb Movements in Sleep.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munzer T,
|
||
Felt B</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2017 Aug;37(4):439-445.
|
||
Epub 2017 Aug 24
|
||
doi: 10.1055/s-0037-1605342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28837991" target="_blank">28837991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21648123">The prevalence and clinical characteristics of punding in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer AH,
|
||
Rickards H,
|
||
Fasano A,
|
||
Cavanna AE</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2011 Mar;26(4):578-86.
|
||
doi: 10.1002/mds.23508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21648123" target="_blank">21648123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19170198">The management of tics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shprecher D,
|
||
Kurlan R</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2009 Jan 15;24(1):15-24.
|
||
doi: 10.1002/mds.22378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19170198" target="_blank">19170198</a><a href="/pmc/articles/PMC2701289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11052223">Levodopa-induced dyskinesias and dopamine-dependent stereotypies: a new hypothesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graybiel AM,
|
||
Canales JJ,
|
||
Capper-Loup C</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2000 Oct;23(10 Suppl):S71-7.
|
||
doi: 10.1016/s1471-1931(00)00027-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11052223" target="_blank">11052223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1949920">RETT's syndrome in Korea--report of two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi YC,
|
||
Lee BI,
|
||
Huh K,
|
||
Kim GW</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
1991 Jun;32(2):172-8.
|
||
doi: 10.3349/ymj.1991.32.2.172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1949920" target="_blank">1949920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (106)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32026227">Oxidative Stress in Autism Spectrum Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bjørklund G,
|
||
Meguid NA,
|
||
El-Bana MA,
|
||
Tinkov AA,
|
||
Saad K,
|
||
Dadar M,
|
||
Hemimi M,
|
||
Skalny AV,
|
||
Hosnedlová B,
|
||
Kizek R,
|
||
Osredkar J,
|
||
Urbina MA,
|
||
Fabjan T,
|
||
El-Houfey AA,
|
||
Kałużna-Czaplińska J,
|
||
Gątarek P,
|
||
Chirumbolo S</span><br />
|
||
<span class="medgenPMjournal">Mol Neurobiol</span>
|
||
2020 May;57(5):2314-2332.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1007/s12035-019-01742-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32026227" target="_blank">32026227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31655964">Prevalence and Risk-Markers of Self-Harm in Autistic Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licence L,
|
||
Oliver C,
|
||
Moss J,
|
||
Richards C</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2020 Oct;50(10):3561-3574.
|
||
doi: 10.1007/s10803-019-04260-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31655964" target="_blank">31655964</a><a href="/pmc/articles/PMC7502049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20516234">Movement disorders I: tics and stereotypies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zinner SH,
|
||
Mink JW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2010 Jun;31(6):223-33.
|
||
doi: 10.1542/pir.31-6-223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20516234" target="_blank">20516234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20207106">Tardive dyskinesia and intellectual disability: an examination of demographics and topography in adults with dual diagnosis and atypical antipsychotic use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fodstad JC,
|
||
Bamburg JW,
|
||
Matson JL,
|
||
Mahan S,
|
||
Hess JA,
|
||
Neal D,
|
||
Holloway J</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2010 May-Jun;31(3):750-9.
|
||
Epub 2010 Mar 5
|
||
doi: 10.1016/j.ridd.2010.01.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20207106" target="_blank">20207106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1949920">RETT's syndrome in Korea--report of two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi YC,
|
||
Lee BI,
|
||
Huh K,
|
||
Kim GW</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
1991 Jun;32(2):172-8.
|
||
doi: 10.3349/ymj.1991.32.2.172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1949920" target="_blank">1949920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (82)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36220825">Gender stereotypes about intellectual ability in Japanese children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okanda M,
|
||
Meng X,
|
||
Kanakogi Y,
|
||
Uragami M,
|
||
Yamamoto H,
|
||
Moriguchi Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Oct 11;12(1):16748.
|
||
doi: 10.1038/s41598-022-20815-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36220825" target="_blank">36220825</a><a href="/pmc/articles/PMC9554173" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31655964">Prevalence and Risk-Markers of Self-Harm in Autistic Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licence L,
|
||
Oliver C,
|
||
Moss J,
|
||
Richards C</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2020 Oct;50(10):3561-3574.
|
||
doi: 10.1007/s10803-019-04260-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31655964" target="_blank">31655964</a><a href="/pmc/articles/PMC7502049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28934869">Teacher-Implemented Response Interruption and Redirection: Training, Evaluation, and Descriptive Analysis of Treatment Integrity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giles A,
|
||
Swain S,
|
||
Quinn L,
|
||
Weifenbach B</span><br />
|
||
<span class="medgenPMjournal">Behav Modif</span>
|
||
2018 Jan;42(1):148-169.
|
||
Epub 2017 Sep 21
|
||
doi: 10.1177/0145445517731061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28934869" target="_blank">28934869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23763664">Head stereotypies in STXBP1 encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YO,
|
||
Korff CM,
|
||
Villaluz MM,
|
||
Suls A,
|
||
Weckhuysen S,
|
||
De Jonghe P,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2013 Aug;55(8):769-72.
|
||
Epub 2013 Jun 13
|
||
doi: 10.1111/dmcn.12197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23763664" target="_blank">23763664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20564735">Developmental and benign movement disorders in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnet C,
|
||
Roubertie A,
|
||
Doummar D,
|
||
Bahi-Buisson N,
|
||
Cochen de Cock V,
|
||
Roze E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2010 Jul 30;25(10):1317-34.
|
||
doi: 10.1002/mds.22944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20564735" target="_blank">20564735</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (173)</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>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/37775616">Co-morbid tics and stereotypies: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavanna AE,
|
||
Purpura G,
|
||
Riva A,
|
||
Nacinovich R</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):477-483.
|
||
Epub 2023 Sep 29
|
||
doi: 10.1007/s10072-023-07095-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37775616" target="_blank">37775616</a><a href="/pmc/articles/PMC10791822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/36802826">Representation of autism in fictional media: A systematic review of media content and its impact on viewer knowledge and understanding of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones SC,
|
||
Gordon CS,
|
||
Mizzi S</span><br />
|
||
<span class="medgenPMjournal">Autism</span>
|
||
2023 Nov;27(8):2205-2217.
|
||
Epub 2023 Feb 19
|
||
doi: 10.1177/13623613231155770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36802826" target="_blank">36802826</a><a href="/pmc/articles/PMC10576905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32706097">Stereotypies in adults: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shukla T,
|
||
Pandey S</span><br />
|
||
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2020;54(4):294-304.
|
||
Epub 2020 Jul 24
|
||
doi: 10.5603/PJNNS.a2020.0058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32706097" target="_blank">32706097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28010153">A systematic review and evaluation of inhibitory stimulus control procedures as a treatment for stereotyped behavior among individuals with autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lydon S,
|
||
Moran L,
|
||
Healy O,
|
||
Mulhern T,
|
||
Enright Young K</span><br />
|
||
<span class="medgenPMjournal">Dev Neurorehabil</span>
|
||
2017 Nov;20(8):491-501.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1080/17518423.2016.1265604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28010153" target="_blank">28010153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23886757">A systematic review and evaluation of response redirection as a treatment for challenging behavior in individuals with developmental disabilities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lydon S,
|
||
Healy O,
|
||
O'Reilly M,
|
||
McCoy A</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2013 Oct;34(10):3148-58.
|
||
Epub 2013 Jul 22
|
||
doi: 10.1016/j.ridd.2013.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23886757" target="_blank">23886757</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stereotypical%20body%20rocking%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 (7)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(stereotypical%20body%20rocking)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Stereotypical%20body%20rocking%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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