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<meta name="keywords" content="C5543225, cul3, disease or syndrome, nedaus, neurodevelopmental disorder with or without autism or seizures, 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="CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills. \n\nMovement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). \n\nPeople with CUL3-related neurodevelopmental disorder can have distinctive facial features, including a long, triangular-shaped face; a large forehead; a large, rounded nose; small ears; deep-set eyes; or a pointed chin. Some affected individuals have a larger than normal head (macrocephaly). \n\nMany people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the palm of the hand. Foot abnormalities can include high arches of the feet (pes cavus); bunions; fusion of the skin between some toes (cutaneous syndactyly); or joint deformities (contractures) in the ankles, feet, or toes. A few individuals with CUL3-related neurodevelopmental disorder have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). \n\nSome affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder. " /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1784023
|
||
ConceptID=C5543225
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with or without autism or seizures<span class="h1sub">(NEDAUS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5543225</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDAUS</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="CUL3 - ID: 8452 - NCBI Gene" href="/gene/8452" class="medgenPMinfo">CUL3</a> (2q36.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030994" target="_blank">MONDO:0030994</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619239" target="_blank">619239</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills. <br /><br />Movement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). <br /><br />People with CUL3-related neurodevelopmental disorder can have distinctive facial features, including a long, triangular-shaped face; a large forehead; a large, rounded nose; small ears; deep-set eyes; or a pointed chin. Some affected individuals have a larger than normal head (macrocephaly). <br /><br />Many people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the palm of the hand. Foot abnormalities can include high arches of the feet (pes cavus); bunions; fusion of the skin between some toes (cutaneous syndactyly); or joint deformities (contractures) in the ankles, feet, or toes. A few individuals with CUL3-related neurodevelopmental disorder have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). <br /><br />Some affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</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_480441"><div><strong>Absent thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480441</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480441">Feature record</a> | <a href="/medgen?term=%22Absent%20thumb%22%5BClinical%20Features%5D%20OR%20480441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1956257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<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) 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_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%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) 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) 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_369943"><div><strong>EEG with burst suppression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369943">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20burst%20suppression%22%5BClinical%20Features%5D%20OR%20369943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368737"><div><strong>Delayed ability to sit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4476710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368737">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20sit%22%5BClinical%20Features%5D%20OR%201368737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98472"><div><strong>Submucous cleft hard palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98472</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98472">Feature record</a> | <a href="/medgen?term=%22Submucous%20cleft%20hard%20palate%22%5BClinical%20Features%5D%20OR%2098472%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Submucous cleft hard palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent thumb</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_1368737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to sit</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</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_369943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with burst suppression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</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_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_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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/37921621">ACVIM Consensus Statement on the management of status epilepticus and cluster seizures in dogs and cats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charalambous M,
|
||
Muñana K,
|
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Patterson EE,
|
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Platt SR,
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Volk HA</span><br />
|
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<span class="medgenPMjournal">J Vet Intern Med</span>
|
||
2024 Jan-Feb;38(1):19-40.
|
||
Epub 2023 Nov 3
|
||
doi: 10.1111/jvim.16928.
|
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<span class="bold">PMID: </span><a href="/pubmed/37921621" target="_blank">37921621</a><a href="/pmc/articles/PMC10800221" 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,
|
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Banaschewski T,
|
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Coghill D,
|
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Zheng Y,
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Biederman J,
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Bellgrove MA,
|
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Newcorn JH,
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Gignac M,
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Al Saud NM,
|
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Manor I,
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Rohde LA,
|
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Yang L,
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Cortese S,
|
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Almagor D,
|
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Stein MA,
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Albatti TH,
|
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Aljoudi HF,
|
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Alqahtani MMJ,
|
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Asherson P,
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Atwoli L,
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Bölte S,
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Buitelaar JK,
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Crunelle CL,
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Daley D,
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Dalsgaard S,
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Döpfner M,
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Espinet S,
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Fitzgerald M,
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Franke B,
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Gerlach M,
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Haavik J,
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Hartman CA,
|
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Hartung CM,
|
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Hinshaw SP,
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Hoekstra PJ,
|
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Hollis C,
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Kollins SH,
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Sandra Kooij JJ,
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Kuntsi J,
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Larsson H,
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Li T,
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Liu J,
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Merzon E,
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Mattingly G,
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Mattos P,
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McCarthy S,
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Mikami AY,
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Molina BSG,
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Nigg JT,
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Purper-Ouakil D,
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Omigbodun OO,
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Polanczyk GV,
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Pollak Y,
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Poulton AS,
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Rajkumar RP,
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Reding A,
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Reif A,
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Rubia K,
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Rucklidge J,
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Romanos M,
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Ramos-Quiroga JA,
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Schellekens A,
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Scheres A,
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Schoeman R,
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Schweitzer JB,
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Shah H,
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Solanto MV,
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Sonuga-Barke E,
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Soutullo C,
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Steinhausen HC,
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Swanson JM,
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Thapar A,
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Tripp G,
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van de Glind G,
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van den Brink W,
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Van der Oord S,
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Venter A,
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Vitiello B,
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Walitza S,
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Wang Y</span><br />
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<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,
|
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Hagan JF Jr,
|
||
Allan C,
|
||
Chan E,
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Davison D,
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Earls M,
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Evans SW,
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Flinn SK,
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Froehlich T,
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Frost J,
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Holbrook JR,
|
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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%20autism%20or%20seizures)%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 (15452)</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/38592388">Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahlqvist VH,
|
||
Sjöqvist H,
|
||
Dalman C,
|
||
Karlsson H,
|
||
Stephansson O,
|
||
Johansson S,
|
||
Magnusson C,
|
||
Gardner RM,
|
||
Lee BK</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Apr 9;331(14):1205-1214.
|
||
doi: 10.1001/jama.2024.3172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38592388" target="_blank">38592388</a><a href="/pmc/articles/PMC11004836" 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/28191889">Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stessman HA,
|
||
Xiong B,
|
||
Coe BP,
|
||
Wang T,
|
||
Hoekzema K,
|
||
Fenckova M,
|
||
Kvarnung M,
|
||
Gerdts J,
|
||
Trinh S,
|
||
Cosemans N,
|
||
Vives L,
|
||
Lin J,
|
||
Turner TN,
|
||
Santen G,
|
||
Ruivenkamp C,
|
||
Kriek M,
|
||
van Haeringen A,
|
||
Aten E,
|
||
Friend K,
|
||
Liebelt J,
|
||
Barnett C,
|
||
Haan E,
|
||
Shaw M,
|
||
Gecz J,
|
||
Anderlid BM,
|
||
Nordgren A,
|
||
Lindstrand A,
|
||
Schwartz C,
|
||
Kooy RF,
|
||
Vandeweyer G,
|
||
Helsmoortel C,
|
||
Romano C,
|
||
Alberti A,
|
||
Vinci M,
|
||
Avola E,
|
||
Giusto S,
|
||
Courchesne E,
|
||
Pramparo T,
|
||
Pierce K,
|
||
Nalabolu S,
|
||
Amaral DG,
|
||
Scheffer IE,
|
||
Delatycki MB,
|
||
Lockhart PJ,
|
||
Hormozdiari F,
|
||
Harich B,
|
||
Castells-Nobau A,
|
||
Xia K,
|
||
Peeters H,
|
||
Nordenskjöld M,
|
||
Schenck A,
|
||
Bernier RA,
|
||
Eichler EE</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2017 Apr;49(4):515-526.
|
||
Epub 2017 Feb 13
|
||
doi: 10.1038/ng.3792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28191889" target="_blank">28191889</a><a href="/pmc/articles/PMC5374041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074734">Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Lombardo MV,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Mar 8;383(9920):896-910.
|
||
Epub 2013 Sep 26
|
||
doi: 10.1016/S0140-6736(13)61539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074734" target="_blank">24074734</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%20autism%20or%20seizures%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 (128766)</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/36255651">Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singhi P,
|
||
Malhi P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2023 Apr;90(4):364-368.
|
||
Epub 2022 Oct 18
|
||
doi: 10.1007/s12098-022-04363-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36255651" target="_blank">36255651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28951611">Sensory perception in autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson CE,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurosci</span>
|
||
2017 Nov;18(11):671-684.
|
||
Epub 2017 Sep 29
|
||
doi: 10.1038/nrn.2017.112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28951611" target="_blank">28951611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074734">Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Lombardo MV,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Mar 8;383(9920):896-910.
|
||
Epub 2013 Sep 26
|
||
doi: 10.1016/S0140-6736(13)61539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074734" target="_blank">24074734</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%20autism%20or%20seizures%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 (121032)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38592388">Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahlqvist VH,
|
||
Sjöqvist H,
|
||
Dalman C,
|
||
Karlsson H,
|
||
Stephansson O,
|
||
Johansson S,
|
||
Magnusson C,
|
||
Gardner RM,
|
||
Lee BK</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Apr 9;331(14):1205-1214.
|
||
doi: 10.1001/jama.2024.3172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38592388" target="_blank">38592388</a><a href="/pmc/articles/PMC11004836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33536055">Cannabinoid treatment for autism: a proof-of-concept randomized trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aran A,
|
||
Harel M,
|
||
Cassuto H,
|
||
Polyansky L,
|
||
Schnapp A,
|
||
Wattad N,
|
||
Shmueli D,
|
||
Golan D,
|
||
Castellanos FX</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2021 Feb 3;12(1):6.
|
||
doi: 10.1186/s13229-021-00420-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33536055" target="_blank">33536055</a><a href="/pmc/articles/PMC7860205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29281930">The Effect of Sensory Integration Therapy on Occupational Performance in Children With Autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashefimehr B,
|
||
Kayihan H,
|
||
Huri M</span><br />
|
||
<span class="medgenPMjournal">OTJR (Thorofare N J)</span>
|
||
2018 Apr;38(2):75-83.
|
||
Epub 2017 Dec 27
|
||
doi: 10.1177/1539449217743456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29281930" target="_blank">29281930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28075089">Autism Spectrum Disorder: Primary Care Principles.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sanchack KE,
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Thomas CA</span><br />
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<span class="medgenPMjournal">Am Fam Physician</span>
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2016 Dec 15;94(12):972-979.
|
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<span class="bold">PMID: </span><a href="/pubmed/28075089" target="_blank">28075089</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26561063">Autism: Pathophysiology and Promising Herbal Remedies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bahmani M,
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Sarrafchi A,
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Shirzad H,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autism%20or%20seizures%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 (71401)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38592388">Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ahlqvist VH,
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Sjöqvist H,
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Dalman C,
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Karlsson H,
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Stephansson O,
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Johansson S,
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Magnusson C,
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Gardner RM,
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Lee BK</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38592388" target="_blank">38592388</a><a href="/pmc/articles/PMC11004836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36427512">Prediction of autism in infants: progress and challenges.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dawson G,
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Rieder AD,
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Johnson MH</span><br />
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Epub 2022 Nov 22
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doi: 10.1016/S1474-4422(22)00407-0.
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<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>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/24074734">Autism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
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Lombardo MV,
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2014 Mar 8;383(9920):896-910.
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<span class="bold">PMID: </span><a href="/pubmed/24074734" target="_blank">24074734</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18258309">Neuroanatomy of autism.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Amaral DG,
|
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Schumann CM,
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Nordahl CW</span><br />
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<span class="medgenPMjournal">Trends Neurosci</span>
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2008 Mar;31(3):137-45.
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<span class="bold">PMID: </span><a href="/pubmed/18258309" target="_blank">18258309</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12946972">Diagnosis of autism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baird G,
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Cass H,
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Slonims V</span><br />
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20autism%20or%20seizures%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 (61091)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38592388">Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahlqvist VH,
|
||
Sjöqvist H,
|
||
Dalman C,
|
||
Karlsson H,
|
||
Stephansson O,
|
||
Johansson S,
|
||
Magnusson C,
|
||
Gardner RM,
|
||
Lee BK</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Apr 9;331(14):1205-1214.
|
||
doi: 10.1001/jama.2024.3172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38592388" target="_blank">38592388</a><a href="/pmc/articles/PMC11004836" 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/31059731">Behavioral neuroscience of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takumi T,
|
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Tamada K,
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Hatanaka F,
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Nakai N,
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Bolton PF</span><br />
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<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
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2020 Mar;110:60-76.
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<span class="bold">PMID: </span><a href="/pubmed/31059731" target="_blank">31059731</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/22545843">Deficit, difference, or both? Autism and neurodiversity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapp SK,
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Gillespie-Lynch K,
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Sherman LE,
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Hutman T</span><br />
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<span class="medgenPMjournal">Dev Psychol</span>
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2013 Jan;49(1):59-71.
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Epub 2012 Apr 30
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<span class="bold">PMID: </span><a href="/pubmed/22545843" target="_blank">22545843</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 />
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<span class="medgenPMjournal">Trends Neurosci</span>
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2008 Mar;31(3):137-45.
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||
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%20autism%20or%20seizures%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 (84596)</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,
|
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Scorah J,
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Ibrahim A,
|
||
Durkin MS,
|
||
Saxena S,
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Yusuf A,
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||
Shih A,
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||
Elsabbagh M</span><br />
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<span class="medgenPMjournal">Autism Res</span>
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||
2022 May;15(5):778-790.
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||
Epub 2022 Mar 3
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||
doi: 10.1002/aur.2696.
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||
<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/34967130">Autism spectrum disorder and schizophrenia: An updated conceptual review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jutla A,
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Foss-Feig J,
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Veenstra-VanderWeele J</span><br />
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<span class="medgenPMjournal">Autism Res</span>
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||
2022 Mar;15(3):384-412.
|
||
Epub 2021 Dec 29
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||
doi: 10.1002/aur.2659.
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||
<span class="bold">PMID: </span><a href="/pubmed/34967130" target="_blank">34967130</a><a href="/pmc/articles/PMC8931527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33449225">Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hume K,
|
||
Steinbrenner JR,
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||
Odom SL,
|
||
Morin KL,
|
||
Nowell SW,
|
||
Tomaszewski B,
|
||
Szendrey S,
|
||
McIntyre NS,
|
||
Yücesoy-Özkan S,
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||
Savage MN</span><br />
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<span class="medgenPMjournal">J Autism Dev Disord</span>
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||
2021 Nov;51(11):4013-4032.
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||
Epub 2021 Jan 15
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|
||
<span class="bold">PMID: </span><a href="/pubmed/33449225" target="_blank">33449225</a><a href="/pmc/articles/PMC8510990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31447415">Prevalence of co-occurring mental health diagnoses in the autism population: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Kassee C,
|
||
Besney R,
|
||
Bonato S,
|
||
Hull L,
|
||
Mandy W,
|
||
Szatmari P,
|
||
Ameis SH</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2019 Oct;6(10):819-829.
|
||
Epub 2019 Aug 22
|
||
doi: 10.1016/S2215-0366(19)30289-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31447415" target="_blank">31447415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30548827">A systematic review of ayres sensory integration intervention for children with autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoen SA,
|
||
Lane SJ,
|
||
Mailloux Z,
|
||
May-Benson T,
|
||
Parham LD,
|
||
Smith Roley S,
|
||
Schaaf RC</span><br />
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<span class="medgenPMjournal">Autism Res</span>
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||
2019 Jan;12(1):6-19.
|
||
Epub 2018 Dec 12
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<span class="bold">PMID: </span><a href="/pubmed/30548827" target="_blank">30548827</a><a href="/pmc/articles/PMC6590432" 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%20autism%20or%20seizures%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 (6342)</a></div></div>
|
||
</div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5543225%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543225%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543225%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543225%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5543225%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20or%20without%20autism%20or%20seizures)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5a1684f3725e595ff5b6">Neurodevelopmental disorder with or without autism or seizures</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5a1284f3725e595fde86">C4310772[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(1)</span></a>
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