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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cognitive regression</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815091</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)&#10;Click for more information."><span class="highlight" style="background-color:">C3808761</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0034332">HP:0034332</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">Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Cognitive regression</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/324613" ref="tree=MeSH" title="MedGen record for Developmental regression">Developmental regression</a></span><ul><li><span class="matched_ds">Cognitive regression</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<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_767519"><div><strong>Mitochondrial complex III deficiency nuclear type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767519</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)&#10;Click for more information.">C3554605</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).&#13; For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767519">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1633653"><div><strong>Leukodystrophy, hypomyelinating, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633653</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)&#10;Click for more information.">C4693733</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)&#13; For a discussion of genetic heterogeneity of HLD, see 312080.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1633653">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846192"><div><strong>Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846192</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)&#10;Click for more information.">C5882695</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (NEDRSO) is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation; some never achieve walking. Additional features include poor coordination, dystonia, oromotor dysfunction, poor speech with dysarthria, ocular defects (in about half), and variably impaired intellectual development. Short stature and small head circumference or microcephaly are observed. Brain imaging often shows progressive cerebellar atrophy, sometimes with other findings such as basal ganglia abnormalities (Frost et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846192">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1847831"><div><strong>Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847831</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)&#10;Click for more information.">C5882726</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy; some may lose ambulation. Additional features include cognitive decline or learning disabilities. Brain imaging shows cerebellar atrophy (Delle Vedove et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1847831">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 15</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847831" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction</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/38355961">Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paulet A,
Bennett-Ness C,
Ageorges F,
Trost D,
Green A,
Goudie D,
Jewell R,
Kraatari-Tiri M,
Piard J,
Coubes C,
Lam W,
Lynch SA,
Groeschel S,
Ramond F,
Fluss J,
Fagerberg C,
Brasch Andersen C,
Varvagiannis K,
Kleefstra T,
Gérard B,
Fradin M,
Vitobello A,
Tenconi R,
Denommé-Pichon AS,
Vincent-Devulder A,
Haack T,
Marsh JA,
Laulund LW,
Grimmel M,
Riess A,
de Boer E,
Padilla-Lopez S,
Bakhtiari S,
Ostendorf A,
Zweier C,
Smol T,
Willems M,
Faivre L,
Scala M,
Striano P,
Bagnasco I,
Koboldt D,
Iascone M,
Suerink M,
Kruer MC,
Levy J,
Verloes A,
Abbott CM,
Ruaud L</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2024 Sep;32(9):1144-1149.
Epub 2024 Feb 15
doi: 10.1038/s41431-024-01560-8.
<span class="bold">PMID: </span><a href="/pubmed/38355961" target="_blank">38355961</a><a href="/pmc/articles/PMC11369172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32173161">Evaluation of Diagnostic Criteria for Hashimoto Encephalopathy Among Children and Adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adams AV,
Mooneyham GC,
Van Mater H,
Gallentine W</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2020 Jun;107:41-47.
Epub 2020 Feb 8
doi: 10.1016/j.pediatrneurol.2019.12.011.
<span class="bold">PMID: </span><a href="/pubmed/32173161" target="_blank">32173161</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24059909">Cohort differences in dementia recognition and treatment indicators among assisted living residents in Maryland: did a change in the resident assessment tool make a difference?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Samus QM,
Vavilikolanu A,
Mayer L,
McNabney M,
Brandt J,
Lyketsos CG,
Rosenblatt A</span><br />
<span class="medgenPMjournal">Int Psychogeriatr</span>
2013 Dec;25(12):2047-56.
Epub 2013 Sep 23
doi: 10.1017/S1041610213001610.
<span class="bold">PMID: </span><a href="/pubmed/24059909" target="_blank">24059909</a><a href="/pmc/articles/PMC3982299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cognitive%20regression%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 (3)</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/34114611">KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
<span class="bold">PMID: </span><a href="/pubmed/34114611" target="_blank">34114611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31081698">Autistic spectrum disorder and epilepsy: diagnostic challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loussouarn A,
Dozières-Puyravel B,
Auvin S</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2019 Jun;19(6):579-585.
Epub 2019 May 13
doi: 10.1080/14737175.2019.1617699.
<span class="bold">PMID: </span><a href="/pubmed/31081698" target="_blank">31081698</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30442188">Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barone R,
Pellico A,
Pittalà A,
Gasperini S</span><br />
<span class="medgenPMjournal">Ital J Pediatr</span>
2018 Nov 16;44(Suppl 2):121.
doi: 10.1186/s13052-018-0561-2.
<span class="bold">PMID: </span><a href="/pubmed/30442188" target="_blank">30442188</a><a href="/pmc/articles/PMC6238256" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22932693">Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antelmi E,
Mastrangelo M,
Bisulli F,
Spaccini L,
Stipa C,
Mostacci B,
Mei D,
Guerrini R,
Tinuper P</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2012 Sep;14(3):304-9.
doi: 10.1684/epd.2012.0526.
<span class="bold">PMID: </span><a href="/pubmed/22932693" target="_blank">22932693</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17351487">Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beghi E</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2007 Apr;20(2):169-74.
doi: 10.1097/WCO.0b013e3280d646e4.
<span class="bold">PMID: </span><a href="/pubmed/17351487" target="_blank">17351487</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
Grimes H,
de Boer E,
Herlin MK,
Dahl RS,
Lund ICB,
Bayat M,
Bolund ACS,
Gjerulfsen CE,
Gregersen PA,
Zilmer M,
Juhl S,
Cebula K,
Rahikkala E,
Maystadt I,
Peron A,
Vignoli A,
Alfano RM,
Stanzial F,
Benedicenti F,
Currò A,
Luk HM,
Jouret G,
Zurita E,
Heuft L,
Schnabel F,
Busche A,
Veenstra-Knol HE,
Tkemaladze T,
Vrielynck P,
Lederer D,
Platzer K,
Ockeloen CW,
Goel H,
Low KJ</span><br />
<span class="medgenPMjournal">Genet Med</span>
2024 Aug;26(8):101170.
Epub 2024 May 27
doi: 10.1016/j.gim.2024.101170.
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35637064">NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manor J,
Calame D,
Gijavanekar C,
Fisher K,
Hunter J,
Mizerik E,
Bacino C,
Scaglia F,
Elsea SH</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2022 Jun;136(2):101-110.
Epub 2022 Apr 18
doi: 10.1016/j.ymgme.2022.04.003.
<span class="bold">PMID: </span><a href="/pubmed/35637064" target="_blank">35637064</a><a href="/pmc/articles/PMC9893913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31081698">Autistic spectrum disorder and epilepsy: diagnostic challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loussouarn A,
Dozières-Puyravel B,
Auvin S</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2019 Jun;19(6):579-585.
Epub 2019 May 13
doi: 10.1080/14737175.2019.1617699.
<span class="bold">PMID: </span><a href="/pubmed/31081698" target="_blank">31081698</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30442188">Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barone R,
Pellico A,
Pittalà A,
Gasperini S</span><br />
<span class="medgenPMjournal">Ital J Pediatr</span>
2018 Nov 16;44(Suppl 2):121.
doi: 10.1186/s13052-018-0561-2.
<span class="bold">PMID: </span><a href="/pubmed/30442188" target="_blank">30442188</a><a href="/pmc/articles/PMC6238256" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17351487">Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beghi E</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2007 Apr;20(2):169-74.
doi: 10.1097/WCO.0b013e3280d646e4.
<span class="bold">PMID: </span><a href="/pubmed/17351487" target="_blank">17351487</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (46)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39421743">IVIG response in pediatric acute-onset neuropsychiatric syndrome correlates with reduction in pro-inflammatory monocytes and neuropsychiatric measures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Melamed I,
Rahman S,
Pein H,
Heffron M,
Frankovich J,
Kreuwel H,
Mellins ED</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2024;15:1383973.
Epub 2024 Oct 3
doi: 10.3389/fimmu.2024.1383973.
<span class="bold">PMID: </span><a href="/pubmed/39421743" target="_blank">39421743</a><a href="/pmc/articles/PMC11484259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32920379">Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox-Gastaut syndrome: A prospective observational clinical study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Operto FF,
Verrotti A,
Marrelli A,
Ciuffini R,
Coppola G,
Pastorino GMG,
Striano P,
Sole M,
Zucca C,
Manfredi V,
Città S,
Elia M</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2020 Nov;112:107445.
Epub 2020 Sep 10
doi: 10.1016/j.yebeh.2020.107445.
<span class="bold">PMID: </span><a href="/pubmed/32920379" target="_blank">32920379</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22075734">Cardiovascular risk factors as potential markers for mild cognitive impairment and Alzheimer's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ciobica A,
Padurariu M,
Bild W,
Stefanescu C</span><br />
<span class="medgenPMjournal">Psychiatr Danub</span>
2011 Dec;23(4):340-6.
<span class="bold">PMID: </span><a href="/pubmed/22075734" target="_blank">22075734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17044831">The progression of epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blume WT</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2006;47 Suppl 1:71-8.
doi: 10.1111/j.1528-1167.2006.00665.x.
<span class="bold">PMID: </span><a href="/pubmed/17044831" target="_blank">17044831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6390559">Neuropsychology of alcoholism. Etiology, phenomenology, process, and outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tarter RE,
Ryan CM</span><br />
<span class="medgenPMjournal">Recent Dev Alcohol</span>
1983;1:449-69.
<span class="bold">PMID: </span><a href="/pubmed/6390559" target="_blank">6390559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31081698">Autistic spectrum disorder and epilepsy: diagnostic challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loussouarn A,
Dozières-Puyravel B,
Auvin S</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2019 Jun;19(6):579-585.
Epub 2019 May 13
doi: 10.1080/14737175.2019.1617699.
<span class="bold">PMID: </span><a href="/pubmed/31081698" target="_blank">31081698</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30552298">Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marafi D,
Suter B,
Schultz R,
Glaze D,
Pavlik VN,
Goldman AM</span><br />
<span class="medgenPMjournal">Neurology</span>
2019 Jan 8;92(2):e108-e114.
Epub 2018 Dec 14
doi: 10.1212/WNL.0000000000006742.
<span class="bold">PMID: </span><a href="/pubmed/30552298" target="_blank">30552298</a><a href="/pmc/articles/PMC6340341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17351487">Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beghi E</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2007 Apr;20(2):169-74.
doi: 10.1097/WCO.0b013e3280d646e4.
<span class="bold">PMID: </span><a href="/pubmed/17351487" target="_blank">17351487</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17044831">The progression of epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blume WT</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2006;47 Suppl 1:71-8.
doi: 10.1111/j.1528-1167.2006.00665.x.
<span class="bold">PMID: </span><a href="/pubmed/17044831" target="_blank">17044831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6390559">Neuropsychology of alcoholism. Etiology, phenomenology, process, and outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tarter RE,
Ryan CM</span><br />
<span class="medgenPMjournal">Recent Dev Alcohol</span>
1983;1:449-69.
<span class="bold">PMID: </span><a href="/pubmed/6390559" target="_blank">6390559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34114611">KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonardi CM,
Heyne HO,
Fiannacca M,
Fitzgerald MP,
Gardella E,
Gunning B,
Olofsson K,
Lesca G,
Verbeek N,
Stamberger H,
Striano P,
Zara F,
Mancardi MM,
Nava C,
Syrbe S,
Buono S,
Baulac S,
Coppola A,
Weckhuysen S,
Schoonjans AS,
Ceulemans B,
Sarret C,
Baumgartner T,
Muhle H,
Portes VD,
Toulouse J,
Nougues MC,
Rossi M,
Demarquay G,
Ville D,
Hirsch E,
Maurey H,
Willems M,
de Bellescize J,
Altuzarra CD,
Villeneuve N,
Bartolomei F,
Picard F,
Hornemann F,
Koolen DA,
Kroes HY,
Reale C,
Fenger CD,
Tan WH,
Dibbens L,
Bearden DR,
Møller RS,
Rubboli G</span><br />
<span class="medgenPMjournal">Brain</span>
2021 Dec 31;144(12):3635-3650.
doi: 10.1093/brain/awab219.
<span class="bold">PMID: </span><a href="/pubmed/34114611" target="_blank">34114611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30442188">Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barone R,
Pellico A,
Pittalà A,
Gasperini S</span><br />
<span class="medgenPMjournal">Ital J Pediatr</span>
2018 Nov 16;44(Suppl 2):121.
doi: 10.1186/s13052-018-0561-2.
<span class="bold">PMID: </span><a href="/pubmed/30442188" target="_blank">30442188</a><a href="/pmc/articles/PMC6238256" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27629772">KCTD7-related progressive myoclonus epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Bogaert P</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2016 Sep 1;18(S2):115-119.
doi: 10.1684/epd.2016.0856.
<span class="bold">PMID: </span><a href="/pubmed/27629772" target="_blank">27629772</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17351487">Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beghi E</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2007 Apr;20(2):169-74.
doi: 10.1097/WCO.0b013e3280d646e4.
<span class="bold">PMID: </span><a href="/pubmed/17351487" target="_blank">17351487</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6390559">Neuropsychology of alcoholism. Etiology, phenomenology, process, and outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tarter RE,
Ryan CM</span><br />
<span class="medgenPMjournal">Recent Dev Alcohol</span>
1983;1:449-69.
<span class="bold">PMID: </span><a href="/pubmed/6390559" target="_blank">6390559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (32)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
Grimes H,
de Boer E,
Herlin MK,
Dahl RS,
Lund ICB,
Bayat M,
Bolund ACS,
Gjerulfsen CE,
Gregersen PA,
Zilmer M,
Juhl S,
Cebula K,
Rahikkala E,
Maystadt I,
Peron A,
Vignoli A,
Alfano RM,
Stanzial F,
Benedicenti F,
Currò A,
Luk HM,
Jouret G,
Zurita E,
Heuft L,
Schnabel F,
Busche A,
Veenstra-Knol HE,
Tkemaladze T,
Vrielynck P,
Lederer D,
Platzer K,
Ockeloen CW,
Goel H,
Low KJ</span><br />
<span class="medgenPMjournal">Genet Med</span>
2024 Aug;26(8):101170.
Epub 2024 May 27
doi: 10.1016/j.gim.2024.101170.
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31059981">Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZR,
Liu DT,
Meng H,
Liu L,
Bian WJ,
Liu XR,
Zhu WW,
He Y,
Wang J,
Tang B,
Su T,
Yi YH</span><br />
<span class="medgenPMjournal">Seizure</span>
2019 Jul;69:180-185.
Epub 2018 Sep 2
doi: 10.1016/j.seizure.2018.08.027.
<span class="bold">PMID: </span><a href="/pubmed/31059981" target="_blank">31059981</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cognitive%20regression%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 (2)</a></div></div>
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