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<meta name="keywords" content="C4022906, delayed early-childhood social milestone development, delayed milestone development, delayed social development, finding, 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="A failure to meet one or more age-related milestones of social behavior." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868509
|
||
ConceptID=C4022906
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Delayed early-childhood social milestone development</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868509</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:">C4022906</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Delayed social development</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012434">HP:0012434</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A failure to meet one or more age-related milestones of social behavior. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Delayed early-childhood social milestone development</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/14048" ref="tree=MeSH" title="MedGen record for Atypical behavior">Atypical behavior</a></span><ul><li><span class="TLline"><a href="/medgen/893112" ref="tree=MeSH" title="MedGen record for Abnormal social behavior">Abnormal social behavior</a></span><ul><li><span class="TLline"><a href="/medgen/1825370" ref="tree=MeSH" title="MedGen record for Abnormal social development">Abnormal social development</a></span><ul><li><span class="matched_ds">Delayed early-childhood social milestone development</span><ul><li><span class="TLline"><a href="/medgen/1842101" ref="tree=MeSH" title="MedGen record for Delay in the acquisition of cooperative play skills">Delay in the acquisition of cooperative play skills</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_862791"><div><strong>Pontocerebellar hypoplasia type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862791</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.">C4014354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862791">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934613"><div><strong>Lissencephaly 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934613</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.">C4310646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934690"><div><strong>Microcephaly 17, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934690</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.">C4310723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934690">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648308"><div><strong>Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648308</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.">C4748120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648308">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648487"><div><strong>Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648487</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.">C4748137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648403"><div><strong>Intellectual developmental disorder with hypertelorism and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648403</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.">C4748381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648399"><div><strong>Cortical dysplasia, complex, with other brain malformations 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648399</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.">C4748540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684324"><div><strong>Autosomal recessive spinocerebellar ataxia 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684324</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.">C5190595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684859"><div><strong>Cortical dysplasia, complex, with other brain malformations 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684859</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.">C5231458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684859">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1717271"><div><strong>Diabetes mellitus, permanent neonatal 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717271</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.">C5394303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and history of intrauterine growth deficiency. Therapy with insulin and/or oral hypoglycemic medications (in some molecular causes of PNDM) can correct the hyperglycemia and result in dramatic catch-up growth. The course of PNDM varies by genotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717271">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778516"><div><strong>Pontocerebellar hypoplasia, type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778516</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.">C5543322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781311"><div><strong>Pontocerebellar hypoplasia, type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781311</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.">C5543326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794247"><div><strong>Zaki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794247</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.">C5562037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies (Chai et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794247">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spinocerebellar ataxia 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia, complex, with other brain malformations 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia, complex, with other brain malformations 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus, permanent neonatal 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with hypertelorism and distinctive facies</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 17, primary, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, type 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zaki syndrome</a></div></span></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/38499597">Early childhood neurodevelopmental milestones in children with allergic diseases: the Japan Environment and Children's Study (JECS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagata A,
|
||
Onishi K,
|
||
Masumoto T,
|
||
Nakagawa T,
|
||
Ishitsuka K,
|
||
Kurozawa Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Mar 18;14(1):6460.
|
||
doi: 10.1038/s41598-024-57210-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38499597" target="_blank">38499597</a><a href="/pmc/articles/PMC10948893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36959346">Socioeconomic and education-based inequality in suspected developmental delays among Nepalese children: a subnational level assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acharya K,
|
||
Rahman MS,
|
||
Islam MR,
|
||
Gilmour S,
|
||
Dhungel B,
|
||
Parajuli RP,
|
||
Nishimura T,
|
||
Senju A,
|
||
Tsuchiya KJ</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Mar 23;13(1):4750.
|
||
doi: 10.1038/s41598-023-31629-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36959346" target="_blank">36959346</a><a href="/pmc/articles/PMC10036624" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36914414">Early childhood tracking application: Correspondence between crowd-based developmental percentiles and clinical tools.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Sasson A,
|
||
Jacobs K,
|
||
Ben-Sasson E</span><br />
|
||
<span class="medgenPMjournal">Health Informatics J</span>
|
||
2023 Jan-Mar;29(1):14604582231164695.
|
||
doi: 10.1177/14604582231164695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36914414" target="_blank">36914414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33888748">SARS pandemic exposure impaired early childhood development in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fan Y,
|
||
Wang H,
|
||
Wu Q,
|
||
Zhou X,
|
||
Zhou Y,
|
||
Wang B,
|
||
Han Y,
|
||
Xue T,
|
||
Zhu T</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Apr 22;11(1):8694.
|
||
doi: 10.1038/s41598-021-87875-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33888748" target="_blank">33888748</a><a href="/pmc/articles/PMC8062548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31634704">Antenatal determinants of early childhood talking delay and behavioural difficulties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Souza S,
|
||
Crawford CN,
|
||
Buckley J,
|
||
Underwood L,
|
||
Peterson ER,
|
||
Bird A,
|
||
Morton SMB,
|
||
Waldie KE</span><br />
|
||
<span class="medgenPMjournal">Infant Behav Dev</span>
|
||
2019 Nov;57:101388.
|
||
Epub 2019 Oct 18
|
||
doi: 10.1016/j.infbeh.2019.101388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634704" target="_blank">31634704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20early-childhood%20social%20milestone%20development%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39067834">A systematic review and meta-analysis of the associations between motor milestone timing and motor development in neurodevelopmental conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowler A,
|
||
Arichi T,
|
||
Austerberry C,
|
||
Fearon P,
|
||
Ronald A</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2024 Dec;167:105825.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1016/j.neubiorev.2024.105825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39067834" target="_blank">39067834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38499597">Early childhood neurodevelopmental milestones in children with allergic diseases: the Japan Environment and Children's Study (JECS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagata A,
|
||
Onishi K,
|
||
Masumoto T,
|
||
Nakagawa T,
|
||
Ishitsuka K,
|
||
Kurozawa Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Mar 18;14(1):6460.
|
||
doi: 10.1038/s41598-024-57210-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38499597" target="_blank">38499597</a><a href="/pmc/articles/PMC10948893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36914414">Early childhood tracking application: Correspondence between crowd-based developmental percentiles and clinical tools.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Sasson A,
|
||
Jacobs K,
|
||
Ben-Sasson E</span><br />
|
||
<span class="medgenPMjournal">Health Informatics J</span>
|
||
2023 Jan-Mar;29(1):14604582231164695.
|
||
doi: 10.1177/14604582231164695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36914414" target="_blank">36914414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31790933">Cambodian Developmental Milestone Assessment Tool (cDMAT): Performance reference charts and reliability check of a tool to assess early childhood development in Cambodian children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ngoun C,
|
||
De Mey P,
|
||
Baesel K,
|
||
Khann RK,
|
||
Stoey LS</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2020 Feb;141:104934.
|
||
Epub 2019 Nov 29
|
||
doi: 10.1016/j.earlhumdev.2019.104934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31790933" target="_blank">31790933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31634704">Antenatal determinants of early childhood talking delay and behavioural difficulties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Souza S,
|
||
Crawford CN,
|
||
Buckley J,
|
||
Underwood L,
|
||
Peterson ER,
|
||
Bird A,
|
||
Morton SMB,
|
||
Waldie KE</span><br />
|
||
<span class="medgenPMjournal">Infant Behav Dev</span>
|
||
2019 Nov;57:101388.
|
||
Epub 2019 Oct 18
|
||
doi: 10.1016/j.infbeh.2019.101388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634704" target="_blank">31634704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20early-childhood%20social%20milestone%20development%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35332101">Associations between household air pollution and early child development among children aged 36-59 months in Bangladesh.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rana J,
|
||
Luna-Gutiérrez P,
|
||
Haque SE,
|
||
Ignacio Nazif-Muñoz J,
|
||
Mitra DK,
|
||
Oulhote Y</span><br />
|
||
<span class="medgenPMjournal">J Epidemiol Community Health</span>
|
||
2022 Jul;76(7):667-676.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1136/jech-2021-217554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35332101" target="_blank">35332101</a><a href="/pmc/articles/PMC9209676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20572929">Inadequate feeding practices and impaired growth among children from subsistence farming households in Sidama, Southern Ethiopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson RS,
|
||
Abebe Y,
|
||
Hambidge KM,
|
||
Arbide I,
|
||
Teshome A,
|
||
Stoecker BJ</span><br />
|
||
<span class="medgenPMjournal">Matern Child Nutr</span>
|
||
2009 Jul;5(3):260-75.
|
||
Epub 2009 Feb 10
|
||
doi: 10.1111/j.1740-8709.2008.00179.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20572929" target="_blank">20572929</a><a href="/pmc/articles/PMC6860599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20early-childhood%20social%20milestone%20development%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39067834">A systematic review and meta-analysis of the associations between motor milestone timing and motor development in neurodevelopmental conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowler A,
|
||
Arichi T,
|
||
Austerberry C,
|
||
Fearon P,
|
||
Ronald A</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2024 Dec;167:105825.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1016/j.neubiorev.2024.105825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39067834" target="_blank">39067834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37858055">Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metwally AM,
|
||
Abdallah AM,
|
||
El-Din EMS,
|
||
Zeid DA,
|
||
Khadr Z,
|
||
Elshaarawy GA,
|
||
Elkhatib AA,
|
||
Elsaied A,
|
||
Ashaat EA,
|
||
Elghareeb NA,
|
||
Abdou MH,
|
||
Fathy AM,
|
||
Eldeeb SE,
|
||
AbdAllah M,
|
||
Soliman MA,
|
||
El Banna RAS,
|
||
Hassanein AK,
|
||
Rabah TM,
|
||
Abdelrahman M,
|
||
Sallam SF</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2023 Oct 19;23(1):521.
|
||
doi: 10.1186/s12887-023-04335-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37858055" target="_blank">37858055</a><a href="/pmc/articles/PMC10585886" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34480219">Distressing psychotic-like experiences, cognitive functioning and early developmental markers in clinically referred young people aged 8-18 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barnes GL,
|
||
Stewart C,
|
||
Browning S,
|
||
Bracegirdle K,
|
||
Laurens KR,
|
||
Gin K,
|
||
Hirsch C,
|
||
Abbott C,
|
||
Onwumere J,
|
||
Banerjea P,
|
||
Kuipers E,
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||
Jolley S</span><br />
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<span class="medgenPMjournal">Soc Psychiatry Psychiatr Epidemiol</span>
|
||
2022 Mar;57(3):461-472.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1007/s00127-021-02168-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34480219" target="_blank">34480219</a><a href="/pmc/articles/PMC8934329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25800617">Fever during pregnancy and motor development in children: a study within the Danish National Birth Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holst C,
|
||
Jørgensen SE,
|
||
Wohlfahrt J,
|
||
Nybo Andersen AM,
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||
Melbye M</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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||
2015 Aug;57(8):725-32.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1111/dmcn.12743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25800617" target="_blank">25800617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11286815">Low birth weight, developmental milestones, and behavioral problems in Chinese children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
|
||
Sun Z,
|
||
Neiderhiser JM,
|
||
Uchiyama M,
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||
Okawa M</span><br />
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||
<span class="medgenPMjournal">Psychiatry Res</span>
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||
2001 Mar 25;101(2):115-29.
|
||
doi: 10.1016/s0165-1781(00)00244-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11286815" target="_blank">11286815</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20early-childhood%20social%20milestone%20development%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39067834">A systematic review and meta-analysis of the associations between motor milestone timing and motor development in neurodevelopmental conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowler A,
|
||
Arichi T,
|
||
Austerberry C,
|
||
Fearon P,
|
||
Ronald A</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2024 Dec;167:105825.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1016/j.neubiorev.2024.105825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39067834" target="_blank">39067834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38499597">Early childhood neurodevelopmental milestones in children with allergic diseases: the Japan Environment and Children's Study (JECS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagata A,
|
||
Onishi K,
|
||
Masumoto T,
|
||
Nakagawa T,
|
||
Ishitsuka K,
|
||
Kurozawa Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Mar 18;14(1):6460.
|
||
doi: 10.1038/s41598-024-57210-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38499597" target="_blank">38499597</a><a href="/pmc/articles/PMC10948893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36914414">Early childhood tracking application: Correspondence between crowd-based developmental percentiles and clinical tools.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Sasson A,
|
||
Jacobs K,
|
||
Ben-Sasson E</span><br />
|
||
<span class="medgenPMjournal">Health Informatics J</span>
|
||
2023 Jan-Mar;29(1):14604582231164695.
|
||
doi: 10.1177/14604582231164695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36914414" target="_blank">36914414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35332101">Associations between household air pollution and early child development among children aged 36-59 months in Bangladesh.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rana J,
|
||
Luna-Gutiérrez P,
|
||
Haque SE,
|
||
Ignacio Nazif-Muñoz J,
|
||
Mitra DK,
|
||
Oulhote Y</span><br />
|
||
<span class="medgenPMjournal">J Epidemiol Community Health</span>
|
||
2022 Jul;76(7):667-676.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1136/jech-2021-217554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35332101" target="_blank">35332101</a><a href="/pmc/articles/PMC9209676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31634704">Antenatal determinants of early childhood talking delay and behavioural difficulties.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">D'Souza S,
|
||
Crawford CN,
|
||
Buckley J,
|
||
Underwood L,
|
||
Peterson ER,
|
||
Bird A,
|
||
Morton SMB,
|
||
Waldie KE</span><br />
|
||
<span class="medgenPMjournal">Infant Behav Dev</span>
|
||
2019 Nov;57:101388.
|
||
Epub 2019 Oct 18
|
||
doi: 10.1016/j.infbeh.2019.101388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634704" target="_blank">31634704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20early-childhood%20social%20milestone%20development%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 (15)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39067834">A systematic review and meta-analysis of the associations between motor milestone timing and motor development in neurodevelopmental conditions.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bowler A,
|
||
Arichi T,
|
||
Austerberry C,
|
||
Fearon P,
|
||
Ronald A</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2024 Dec;167:105825.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1016/j.neubiorev.2024.105825.
|
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<span class="bold">PMID: </span><a href="/pubmed/39067834" target="_blank">39067834</a></div>
|
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