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<meta name="keywords" content="C5394311, disease or syndrome, nedasb, neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, nova2, 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="Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; 209850) or Angelman syndrome (AS; 105830). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by Mattioli et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (Concept Id: C5394311)
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<!--
UID=1714862
ConceptID=C5394311
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities<span class="h1sub">(NEDASB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714862</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:">C5394311</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>NEDASB; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES</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="NOVA2 - ID: 4858 - NCBI Gene" href="/gene/4858" class="medgenPMinfo">NOVA2</a> (19q13.32)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0030024" target="_blank">MONDO:0030024</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/618859" target="_blank">618859</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; 209850) or Angelman syndrome (AS; 105830). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by Mattioli et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98407"><div><strong>Inappropriate laughter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98407</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.">C0424304</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98407">Feature record</a> | <a href="/medgen?term=%22Inappropriate%20laughter%22%5BClinical%20Features%5D%20OR%2098407%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)&#10;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_196689"><div><strong>Chiari type I malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196689</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.">C0750929</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/196689">Feature record</a> | <a href="/medgen?term=%22Chiari%20type%20I%20malformation%22%5BClinical%20Features%5D%20OR%20196689%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%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)&#10;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_867996"><div><strong>Recurrent hand flapping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867996</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.">C4022387</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867996">Feature record</a> | <a href="/medgen?term=%22Recurrent%20hand%20flapping%22%5BClinical%20Features%5D%20OR%20867996%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113165"><div><strong>Brachycephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113165</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.">C0221356</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113165">Feature record</a> | <a href="/medgen?term=%22Brachycephaly%22%5BClinical%20Features%5D%20OR%20113165%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)&#10;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_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_374311"><div><strong>Deep philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374311</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.">C1839797</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374311">Feature record</a> | <a href="/medgen?term=%22Deep%20philtrum%22%5BClinical%20Features%5D%20OR%20374311%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356471"><div><strong>Downturned corners of mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356471</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.">C1866195</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356471">Feature record</a> | <a href="/medgen?term=%22Downturned%20corners%20of%20mouth%22%5BClinical%20Features%5D%20OR%20356471%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_477667"><div><strong>High anterior hairline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477667</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.">C3276036</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477667">Feature record</a> | <a href="/medgen?term=%22High%20anterior%20hairline%22%5BClinical%20Features%5D%20OR%20477667%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</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.">C0423224</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356120"><div><strong>Bilateral ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356120</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.">C1865916</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356120">Feature record</a> | <a href="/medgen?term=%22Bilateral%20ptosis%22%5BClinical%20Features%5D%20OR%20356120%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep philtrum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downturned corners of mouth</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High anterior hairline</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_356120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral ptosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</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_113165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachycephaly</a></span></li><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></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_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari type I malformation</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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inappropriate laughter</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_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent hand flapping</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</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/37039129">Evidence-based consensus guidelines for the management of catatonia: Recommendations from the British Association for Psychopharmacology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers JP,
Oldham MA,
Fricchione G,
Northoff G,
Ellen Wilson J,
Mann SC,
Francis A,
Wieck A,
Elizabeth Wachtel L,
Lewis G,
Grover S,
Hirjak D,
Ahuja N,
Zandi MS,
Young AH,
Fone K,
Andrews S,
Kessler D,
Saifee T,
Gee S,
Baldwin DS,
David AS</span><br />
<span class="medgenPMjournal">J Psychopharmacol</span>
2023 Apr;37(4):327-369.
Epub 2023 Apr 11
doi: 10.1177/02698811231158232.
<span class="bold">PMID: </span><a href="/pubmed/37039129" target="_blank">37039129</a><a href="/pmc/articles/PMC10101189" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33549739">The World Federation of ADHD International Consensus Statement: 208 Evidence-based conclusions about the disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Faraone SV,
Banaschewski T,
Coghill D,
Zheng Y,
Biederman J,
Bellgrove MA,
Newcorn JH,
Gignac M,
Al Saud NM,
Manor I,
Rohde LA,
Yang L,
Cortese S,
Almagor D,
Stein MA,
Albatti TH,
Aljoudi HF,
Alqahtani MMJ,
Asherson P,
Atwoli L,
Bölte S,
Buitelaar JK,
Crunelle CL,
Daley D,
Dalsgaard S,
Döpfner M,
Espinet S,
Fitzgerald M,
Franke B,
Gerlach M,
Haavik J,
Hartman CA,
Hartung CM,
Hinshaw SP,
Hoekstra PJ,
Hollis C,
Kollins SH,
Sandra Kooij JJ,
Kuntsi J,
Larsson H,
Li T,
Liu J,
Merzon E,
Mattingly G,
Mattos P,
McCarthy S,
Mikami AY,
Molina BSG,
Nigg JT,
Purper-Ouakil D,
Omigbodun OO,
Polanczyk GV,
Pollak Y,
Poulton AS,
Rajkumar RP,
Reding A,
Reif A,
Rubia K,
Rucklidge J,
Romanos M,
Ramos-Quiroga JA,
Schellekens A,
Scheres A,
Schoeman R,
Schweitzer JB,
Shah H,
Solanto MV,
Sonuga-Barke E,
Soutullo C,
Steinhausen HC,
Swanson JM,
Thapar A,
Tripp G,
van de Glind G,
van den Brink W,
Van der Oord S,
Venter A,
Vitiello B,
Walitza S,
Wang Y</span><br />
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
2021 Sep;128:789-818.
Epub 2021 Feb 4
doi: 10.1016/j.neubiorev.2021.01.022.
<span class="bold">PMID: </span><a href="/pubmed/33549739" target="_blank">33549739</a><a href="/pmc/articles/PMC8328933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31570648">Clinical Practice Guideline for the Diagnosis, Evaluation, and Treatment of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wolraich ML,
Hagan JF Jr,
Allan C,
Chan E,
Davison D,
Earls M,
Evans SW,
Flinn SK,
Froehlich T,
Frost J,
Holbrook JR,
Lehmann CU,
Lessin HR,
Okechukwu K,
Pierce KL,
Winner JD,
Zurhellen W;
SUBCOMMITTEE ON CHILDREN AND ADOLESCENTS WITH ATTENTION-DEFICIT/HYPERACTIVE DISORDER</span><br />
<span class="medgenPMjournal">Pediatrics</span>
2019 Oct;144(4)
doi: 10.1542/peds.2019-2528.
<span class="bold">PMID: </span><a href="/pubmed/31570648" target="_blank">31570648</a><a href="/pmc/articles/PMC7067282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities)%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 (9058)</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/37839389">Developmental regression in children: Current and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furley K,
Mehra C,
Goin-Kochel RP,
Fahey MC,
Hunter MF,
Williams K,
Absoud M</span><br />
<span class="medgenPMjournal">Cortex</span>
2023 Dec;169:5-17.
Epub 2023 Sep 27
doi: 10.1016/j.cortex.2023.09.001.
<span class="bold">PMID: </span><a href="/pubmed/37839389" target="_blank">37839389</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36427512">Prediction of autism in infants: progress and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson G,
Rieder AD,
Johnson MH</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):244-254.
Epub 2022 Nov 22
doi: 10.1016/S1474-4422(22)00407-0.
<span class="bold">PMID: </span><a href="/pubmed/36427512" target="_blank">36427512</a><a href="/pmc/articles/PMC10100853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33648430">Autism and mood disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oakley B,
Loth E,
Murphy DG</span><br />
<span class="medgenPMjournal">Int Rev Psychiatry</span>
2021 May;33(3):280-299.
Epub 2021 Mar 1
doi: 10.1080/09540261.2021.1872506.
<span class="bold">PMID: </span><a href="/pubmed/33648430" target="_blank">33648430</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
Basson MA</span><br />
<span class="medgenPMjournal">J Anat</span>
2017 Jan;230(1):4-15.
Epub 2016 Sep 12
doi: 10.1111/joa.12542.
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22608634">Autism and related disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McPartland J,
Volkmar FR</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2012;106:407-18.
doi: 10.1016/B978-0-444-52002-9.00023-1.
<span class="bold">PMID: </span><a href="/pubmed/22608634" target="_blank">22608634</a><a href="/pmc/articles/PMC3848246" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities%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 (91174)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37781978">Avoidant-restrictive food intake disorder and autism: epidemiology, etiology, complications, treatment, and outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keski-Rahkonen A,
Ruusunen A</span><br />
<span class="medgenPMjournal">Curr Opin Psychiatry</span>
2023 Nov 1;36(6):438-442.
Epub 2023 Aug 29
doi: 10.1097/YCO.0000000000000896.
<span class="bold">PMID: </span><a href="/pubmed/37781978" target="_blank">37781978</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36427512">Prediction of autism in infants: progress and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson G,
Rieder AD,
Johnson MH</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):244-254.
Epub 2022 Nov 22
doi: 10.1016/S1474-4422(22)00407-0.
<span class="bold">PMID: </span><a href="/pubmed/36427512" target="_blank">36427512</a><a href="/pmc/articles/PMC10100853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32355335">Autism spectrum heterogeneity: fact or artifact?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mottron L,
Bzdok D</span><br />
<span class="medgenPMjournal">Mol Psychiatry</span>
2020 Dec;25(12):3178-3185.
Epub 2020 Apr 30
doi: 10.1038/s41380-020-0748-y.
<span class="bold">PMID: </span><a href="/pubmed/32355335" target="_blank">32355335</a><a href="/pmc/articles/PMC7714694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25102558">The cerebellum, sensitive periods, and autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SS,
Kloth AD,
Badura A</span><br />
<span class="medgenPMjournal">Neuron</span>
2014 Aug 6;83(3):518-32.
doi: 10.1016/j.neuron.2014.07.016.
<span class="bold">PMID: </span><a href="/pubmed/25102558" target="_blank">25102558</a><a href="/pmc/articles/PMC4135479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22608634">Autism and related disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McPartland J,
Volkmar FR</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2012;106:407-18.
doi: 10.1016/B978-0-444-52002-9.00023-1.
<span class="bold">PMID: </span><a href="/pubmed/22608634" target="_blank">22608634</a><a href="/pmc/articles/PMC3848246" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities%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 (81958)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36173945">Iron deficiency and common neurodevelopmental disorders-A scoping review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McWilliams S,
Singh I,
Leung W,
Stockler S,
Ipsiroglu OS</span><br />
<span class="medgenPMjournal">PLoS One</span>
2022;17(9):e0273819.
Epub 2022 Sep 29
doi: 10.1371/journal.pone.0273819.
<span class="bold">PMID: </span><a href="/pubmed/36173945" target="_blank">36173945</a><a href="/pmc/articles/PMC9522276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33561522">Gut microbiota and probiotic therapy in ADHD: A review of current knowledge.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalenik A,
Kardaś K,
Rahnama A,
Sirojć K,
Wolańczyk T</span><br />
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
2021 Aug 30;110:110277.
Epub 2021 Feb 6
doi: 10.1016/j.pnpbp.2021.110277.
<span class="bold">PMID: </span><a href="/pubmed/33561522" target="_blank">33561522</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32184147">Iron deficiency in pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Georgieff MK</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2020 Oct;223(4):516-524.
Epub 2020 Mar 14
doi: 10.1016/j.ajog.2020.03.006.
<span class="bold">PMID: </span><a href="/pubmed/32184147" target="_blank">32184147</a><a href="/pmc/articles/PMC7492370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31319515">Preconception and Prenatal Nutrition and Neurodevelopmental Disorders: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
Francis E,
Hinkle SN,
Ajjarapu AS,
Zhang C</span><br />
<span class="medgenPMjournal">Nutrients</span>
2019 Jul 17;11(7)
doi: 10.3390/nu11071628.
<span class="bold">PMID: </span><a href="/pubmed/31319515" target="_blank">31319515</a><a href="/pmc/articles/PMC6682900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26386541">Attention deficit hyperactivity disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
Cooper M</span><br />
<span class="medgenPMjournal">Lancet</span>
2016 Mar 19;387(10024):1240-50.
Epub 2015 Sep 17
doi: 10.1016/S0140-6736(15)00238-X.
<span class="bold">PMID: </span><a href="/pubmed/26386541" target="_blank">26386541</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities%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 (34083)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38822584">The Genesis of Schizophrenia: An Origin Story.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Birnbaum R,
Weinberger DR</span><br />
<span class="medgenPMjournal">Am J Psychiatry</span>
2024 Jun 1;181(6):482-492.
doi: 10.1176/appi.ajp.20240305.
<span class="bold">PMID: </span><a href="/pubmed/38822584" target="_blank">38822584</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38086109">The schizophrenia syndrome, circa 2024: What we know and how that informs its nature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tandon R,
Nasrallah H,
Akbarian S,
Carpenter WT Jr,
DeLisi LE,
Gaebel W,
Green MF,
Gur RE,
Heckers S,
Kane JM,
Malaspina D,
Meyer-Lindenberg A,
Murray R,
Owen M,
Smoller JW,
Yassin W,
Keshavan M</span><br />
<span class="medgenPMjournal">Schizophr Res</span>
2024 Feb;264:1-28.
Epub 2023 Dec 12
doi: 10.1016/j.schres.2023.11.015.
<span class="bold">PMID: </span><a href="/pubmed/38086109" target="_blank">38086109</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36427512">Prediction of autism in infants: progress and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson G,
Rieder AD,
Johnson MH</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):244-254.
Epub 2022 Nov 22
doi: 10.1016/S1474-4422(22)00407-0.
<span class="bold">PMID: </span><a href="/pubmed/36427512" target="_blank">36427512</a><a href="/pmc/articles/PMC10100853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26298473">The Cerebellum and Neurodevelopmental Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stoodley CJ</span><br />
<span class="medgenPMjournal">Cerebellum</span>
2016 Feb;15(1):34-37.
doi: 10.1007/s12311-015-0715-3.
<span class="bold">PMID: </span><a href="/pubmed/26298473" target="_blank">26298473</a><a href="/pmc/articles/PMC4811332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18258309">Neuroanatomy of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amaral DG,
Schumann CM,
Nordahl CW</span><br />
<span class="medgenPMjournal">Trends Neurosci</span>
2008 Mar;31(3):137-45.
Epub 2008 Feb 6
doi: 10.1016/j.tins.2007.12.005.
<span class="bold">PMID: </span><a href="/pubmed/18258309" target="_blank">18258309</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities%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 (37500)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37332143">Motor problems in autism: Co-occurrence or feature?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miller HL,
Licari MK,
Bhat A,
Aziz-Zadeh LS,
Van Damme T,
Fears NE,
Cermak SA,
Tamplain PM</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2024 Jan;66(1):16-22.
Epub 2023 Jun 18
doi: 10.1111/dmcn.15674.
<span class="bold">PMID: </span><a href="/pubmed/37332143" target="_blank">37332143</a><a href="/pmc/articles/PMC10725993" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36427512">Prediction of autism in infants: progress and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson G,
Rieder AD,
Johnson MH</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2023 Mar;22(3):244-254.
Epub 2022 Nov 22
doi: 10.1016/S1474-4422(22)00407-0.
<span class="bold">PMID: </span><a href="/pubmed/36427512" target="_blank">36427512</a><a href="/pmc/articles/PMC10100853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32101114">Multiple Risk Factors: A Challenge in the Management of Autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nadeem MS,
Al-Abbasi FA,
Kazmi I,
Murtaza BN,
Zamzami MA,
Kamal MA,
Arif A,
Afzal M,
Anwar F</span><br />
<span class="medgenPMjournal">Curr Pharm Des</span>
2020;26(7):743-754.
doi: 10.2174/1381612826666200226101218.
<span class="bold">PMID: </span><a href="/pubmed/32101114" target="_blank">32101114</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
Basson MA</span><br />
<span class="medgenPMjournal">J Anat</span>
2017 Jan;230(1):4-15.
Epub 2016 Sep 12
doi: 10.1111/joa.12542.
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18258309">Neuroanatomy of autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amaral DG,
Schumann CM,
Nordahl CW</span><br />
<span class="medgenPMjournal">Trends Neurosci</span>
2008 Mar;31(3):137-45.
Epub 2008 Feb 6
doi: 10.1016/j.tins.2007.12.005.
<span class="bold">PMID: </span><a href="/pubmed/18258309" target="_blank">18258309</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autistic%20features%20and%2For%20structural%20brain%20abnormalities%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 (61634)</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/35238171">Global prevalence of autism: A systematic review update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zeidan J,
Fombonne E,
Scorah J,
Ibrahim A,
Durkin MS,
Saxena S,
Yusuf A,
Shih A,
Elsabbagh M</span><br />
<span class="medgenPMjournal">Autism Res</span>
2022 May;15(5):778-790.
Epub 2022 Mar 3
doi: 10.1002/aur.2696.
<span class="bold">PMID: </span><a href="/pubmed/35238171" target="_blank">35238171</a><a href="/pmc/articles/PMC9310578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34043900">Cannabis and cannabinoid use in autism spectrum disorder: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva EAD Junior,
Medeiros WMB,
Torro N,
Sousa JMM,
Almeida IBCM,
Costa FBD,
Pontes KM,
Nunes ELG,
Rosa MDD,
Albuquerque KLGD</span><br />
<span class="medgenPMjournal">Trends Psychiatry Psychother</span>
2022 Jun 13;44:e20200149.
doi: 10.47626/2237-6089-2020-0149.
<span class="bold">PMID: </span><a href="/pubmed/34043900" target="_blank">34043900</a><a href="/pmc/articles/PMC9887656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34399111">Neurodevelopmental Clues to Neurodegeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schor NF,
Bianchi DW</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2021 Oct;123:67-76.
Epub 2021 Aug 6
doi: 10.1016/j.pediatrneurol.2021.07.012.
<span class="bold">PMID: </span><a href="/pubmed/34399111" target="_blank">34399111</a><a href="/pmc/articles/PMC10040214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33516734">Parental ADHD in pregnancy and the postpartum period - A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kittel-Schneider S,
Quednow BB,
Leutritz AL,
McNeill RV,
Reif A</span><br />
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
2021 May;124:63-77.
Epub 2021 Jan 28
doi: 10.1016/j.neubiorev.2021.01.002.
<span class="bold">PMID: </span><a href="/pubmed/33516734" target="_blank">33516734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29033005">ADHD in children and young people: prevalence, care pathways, and service provision.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sayal K,
Prasad V,
Daley D,
Ford T,
Coghill D</span><br />
<span class="medgenPMjournal">Lancet Psychiatry</span>
2018 Feb;5(2):175-186.
Epub 2017 Oct 9
doi: 10.1016/S2215-0366(17)30167-0.
<span class="bold">PMID: </span><a href="/pubmed/29033005" target="_blank">29033005</a></div>
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