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<meta name="keywords" content="C5436914, disease or syndrome, nbea, nedege, neurodevelopmental disorder with or without early-onset generalized epilepsy, 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 early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1737097
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ConceptID=C5436914
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with or without early-onset generalized epilepsy<span class="h1sub">(NEDEGE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1737097</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:">C5436914</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>NEDEGE; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY</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="NBEA - ID: 26960 - NCBI Gene" href="/gene/26960" class="medgenPMinfo">NBEA</a> (13q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030930" target="_blank">MONDO:0030930</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619157" target="_blank">619157</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">Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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<div class="portlet mgSection" id="ID_102">
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<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_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%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_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_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_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167799"><div><strong>Broad-based gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167799</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.">C0856863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167799">Feature record</a> | <a href="/medgen?term=%22Broad-based%20gait%22%5BClinical%20Features%5D%20OR%20167799%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_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869073"><div><strong>Interictal epileptiform activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</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.">C4023491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869073">Feature record</a> | <a href="/medgen?term=%22Interictal%20epileptiform%20activity%22%5BClinical%20Features%5D%20OR%20869073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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.">C0239998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%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 the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><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_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad-based gait</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_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_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interictal epileptiform activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</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></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%20early-onset%20generalized%20epilepsy)%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 (8657)</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/38574728">Infant microbes and metabolites point to childhood neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahrens AP,
|
||
Hyötyläinen T,
|
||
Petrone JR,
|
||
Igelström K,
|
||
George CD,
|
||
Garrett TJ,
|
||
Orešič M,
|
||
Triplett EW,
|
||
Ludvigsson J</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2024 Apr 11;187(8):1853-1873.e15.
|
||
Epub 2024 Apr 3
|
||
doi: 10.1016/j.cell.2024.02.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574728" target="_blank">38574728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36747038">Sex and gender in neurodevelopmental conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bölte S,
|
||
Neufeld J,
|
||
Marschik PB,
|
||
Williams ZJ,
|
||
Gallagher L,
|
||
Lai MC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2023 Mar;19(3):136-159.
|
||
Epub 2023 Feb 6
|
||
doi: 10.1038/s41582-023-00774-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36747038" target="_blank">36747038</a><a href="/pmc/articles/PMC10154737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35370942">Prenatal Environment and Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doi M,
|
||
Usui N,
|
||
Shimada S</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:860110.
|
||
Epub 2022 Mar 15
|
||
doi: 10.3389/fendo.2022.860110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35370942" target="_blank">35370942</a><a href="/pmc/articles/PMC8964779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31785789">Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner TN,
|
||
Wilfert AB,
|
||
Bakken TE,
|
||
Bernier RA,
|
||
Pepper MR,
|
||
Zhang Z,
|
||
Torene RI,
|
||
Retterer K,
|
||
Eichler EE</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Dec 5;105(6):1274-1285.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1016/j.ajhg.2019.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31785789" target="_blank">31785789</a><a href="/pmc/articles/PMC6904808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31135460">Sex differences in neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">May T,
|
||
Adesina I,
|
||
McGillivray J,
|
||
Rinehart NJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2019 Aug;32(4):622-626.
|
||
doi: 10.1097/WCO.0000000000000714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31135460" target="_blank">31135460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%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 (83897)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36747038">Sex and gender in neurodevelopmental conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bölte S,
|
||
Neufeld J,
|
||
Marschik PB,
|
||
Williams ZJ,
|
||
Gallagher L,
|
||
Lai MC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2023 Mar;19(3):136-159.
|
||
Epub 2023 Feb 6
|
||
doi: 10.1038/s41582-023-00774-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36747038" target="_blank">36747038</a><a href="/pmc/articles/PMC10154737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32699506">Neurodevelopmental disorders-the history and future of a diagnostic concept
.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris-Rosendahl DJ,
|
||
Crocq MA</span><br />
|
||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
|
||
2020 Mar;22(1):65-72.
|
||
doi: 10.31887/DCNS.2020.22.1/macrocq.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32699506" target="_blank">32699506</a><a href="/pmc/articles/PMC7365295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27979720">Neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
|
||
Cooper M,
|
||
Rutter M</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2017 Apr;4(4):339-346.
|
||
Epub 2016 Dec 13
|
||
doi: 10.1016/S2215-0366(16)30376-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27979720" target="_blank">27979720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27364515">Neurodevelopmental Disorders (ASD and ADHD): DSM-5, ICD-10, and ICD-11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doernberg E,
|
||
Hollander E</span><br />
|
||
<span class="medgenPMjournal">CNS Spectr</span>
|
||
2016 Aug;21(4):295-9.
|
||
Epub 2016 Jul 1
|
||
doi: 10.1017/S1092852916000262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27364515" target="_blank">27364515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26865513">STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stamberger H,
|
||
Nikanorova M,
|
||
Willemsen MH,
|
||
Accorsi P,
|
||
Angriman M,
|
||
Baier H,
|
||
Benkel-Herrenbrueck I,
|
||
Benoit V,
|
||
Budetta M,
|
||
Caliebe A,
|
||
Cantalupo G,
|
||
Capovilla G,
|
||
Casara G,
|
||
Courage C,
|
||
Deprez M,
|
||
Destrée A,
|
||
Dilena R,
|
||
Erasmus CE,
|
||
Fannemel M,
|
||
Fjær R,
|
||
Giordano L,
|
||
Helbig KL,
|
||
Heyne HO,
|
||
Klepper J,
|
||
Kluger GJ,
|
||
Lederer D,
|
||
Lodi M,
|
||
Maier O,
|
||
Merkenschlager A,
|
||
Michelberger N,
|
||
Minetti C,
|
||
Muhle H,
|
||
Phalin J,
|
||
Ramsey K,
|
||
Romeo A,
|
||
Schallner J,
|
||
Schanze I,
|
||
Shinawi M,
|
||
Sleegers K,
|
||
Sterbova K,
|
||
Syrbe S,
|
||
Traverso M,
|
||
Tzschach A,
|
||
Uldall P,
|
||
Van Coster R,
|
||
Verhelst H,
|
||
Viri M,
|
||
Winter S,
|
||
Wolff M,
|
||
Zenker M,
|
||
Zoccante L,
|
||
De Jonghe P,
|
||
Helbig I,
|
||
Striano P,
|
||
Lemke JR,
|
||
Møller RS,
|
||
Weckhuysen S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Mar 8;86(10):954-62.
|
||
Epub 2016 Feb 10
|
||
doi: 10.1212/WNL.0000000000002457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26865513" target="_blank">26865513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%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 (75609)</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/31610922">Practical considerations for the evaluation and management of Attention Deficit Hyperactivity Disorder (ADHD) in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weibel S,
|
||
Menard O,
|
||
Ionita A,
|
||
Boumendjel M,
|
||
Cabelguen C,
|
||
Kraemer C,
|
||
Micoulaud-Franchi JA,
|
||
Bioulac S,
|
||
Perroud N,
|
||
Sauvaget A,
|
||
Carton L,
|
||
Gachet M,
|
||
Lopez R</span><br />
|
||
<span class="medgenPMjournal">Encephale</span>
|
||
2020 Feb;46(1):30-40.
|
||
Epub 2019 Oct 11
|
||
doi: 10.1016/j.encep.2019.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31610922" target="_blank">31610922</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/27336781">The Benefits of Breast Feeding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shamir R</span><br />
|
||
<span class="medgenPMjournal">Nestle Nutr Inst Workshop Ser</span>
|
||
2016;86:67-76.
|
||
Epub 2016 Jun 23
|
||
doi: 10.1159/000442724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27336781" target="_blank">27336781</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%20early-onset%20generalized%20epilepsy%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 (32165)</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/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,
|
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Lee BK</span><br />
|
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<span class="medgenPMjournal">JAMA</span>
|
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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/38574728">Infant microbes and metabolites point to childhood neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahrens AP,
|
||
Hyötyläinen T,
|
||
Petrone JR,
|
||
Igelström K,
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George CD,
|
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Garrett TJ,
|
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Orešič M,
|
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Triplett EW,
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Ludvigsson J</span><br />
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<span class="medgenPMjournal">Cell</span>
|
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2024 Apr 11;187(8):1853-1873.e15.
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Epub 2024 Apr 3
|
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doi: 10.1016/j.cell.2024.02.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574728" target="_blank">38574728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26386541">Attention deficit hyperactivity disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
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Cooper M</span><br />
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<span class="medgenPMjournal">Lancet</span>
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2016 Mar 19;387(10024):1240-50.
|
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Epub 2015 Sep 17
|
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doi: 10.1016/S0140-6736(15)00238-X.
|
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<span class="bold">PMID: </span><a href="/pubmed/26386541" target="_blank">26386541</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/23789306">How nutritional status, diet and dietary supplements can affect autism. A review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kawicka A,
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Regulska-Ilow B</span><br />
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<span class="medgenPMjournal">Rocz Panstw Zakl Hig</span>
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2013;64(1):1-12.
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<span class="bold">PMID: </span><a href="/pubmed/23789306" target="_blank">23789306</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%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 (34330)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38822584">The Genesis of Schizophrenia: An Origin Story.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Birnbaum R,
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Weinberger DR</span><br />
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<span class="medgenPMjournal">Am J Psychiatry</span>
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||
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/38574728">Infant microbes and metabolites point to childhood neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahrens AP,
|
||
Hyötyläinen T,
|
||
Petrone JR,
|
||
Igelström K,
|
||
George CD,
|
||
Garrett TJ,
|
||
Orešič M,
|
||
Triplett EW,
|
||
Ludvigsson J</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2024 Apr 11;187(8):1853-1873.e15.
|
||
Epub 2024 Apr 3
|
||
doi: 10.1016/j.cell.2024.02.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574728" target="_blank">38574728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32699506">Neurodevelopmental disorders-the history and future of a diagnostic concept
.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris-Rosendahl DJ,
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||
Crocq MA</span><br />
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||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
|
||
2020 Mar;22(1):65-72.
|
||
doi: 10.31887/DCNS.2020.22.1/macrocq.
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<span class="bold">PMID: </span><a href="/pubmed/32699506" target="_blank">32699506</a><a href="/pmc/articles/PMC7365295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/31785789">Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner TN,
|
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Wilfert AB,
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Bakken TE,
|
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Bernier RA,
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Pepper MR,
|
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Zhang Z,
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Torene RI,
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Retterer K,
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Eichler EE</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Dec 5;105(6):1274-1285.
|
||
Epub 2019 Nov 27
|
||
doi: 10.1016/j.ajhg.2019.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31785789" target="_blank">31785789</a><a href="/pmc/articles/PMC6904808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27979720">Neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapar A,
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||
Cooper M,
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Rutter M</span><br />
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<span class="medgenPMjournal">Lancet Psychiatry</span>
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2017 Apr;4(4):339-346.
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Epub 2016 Dec 13
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doi: 10.1016/S2215-0366(16)30376-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27979720" target="_blank">27979720</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%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 (55705)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<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/34836103">Breast Milk Micronutrients and Infant Neurodevelopmental Outcomes: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lockyer F,
|
||
McCann S,
|
||
Moore SE</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Oct 28;13(11)
|
||
doi: 10.3390/nu13113848.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34836103" target="_blank">34836103</a><a href="/pmc/articles/PMC8624933" 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/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/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>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%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 (3954)</a></div></div>
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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=C5436914%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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<li><a href="/gtr/tests?term=C5436914%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<li><a href="/gtr/tests?term=C5436914%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5436914%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619157" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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%20early-onset%20generalized%20epilepsy)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604889" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=26960[geneid]" target="_blank">View NBEA variations in ClinVar</a></li><li><a href="/nuccore/324021732" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=619157" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/neurodevelopmental_disorder_with_or_without_early_onset_generalized_epilepsy" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18539/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Neurodevelopmental%20disorder%20with%20or%20without%20early-onset%20generalized%20epilepsy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc46a084f3725e59c90fc9">Neurodevelopmental disorder with or without early-onset generalized epilepsy</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc469db15b832ebc84c0d5">C5436914[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc4697b15b832ebc84a455">C5394311[conceptid] <span class="number">(1)</span></a>
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