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<title>Table 3. [KMT2E-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews® - NCBI Bookshelf</title>
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Table 3. [KMT2E-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis]." /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Lynn Pais" /><meta name="DC.Contributor" content="Lance Rodan" /><meta name="DC.Contributor" content="Anne O'Donnell-Luria" /><meta name="DC.Date" content="2024/04/18" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1/" /><meta name="description" content="KMT2E-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis" /><meta name="bk-non-canon-loc" content="/books/n/gene/kmt2e-ndd/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p><i>KMT2E</i>-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Growth</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of head circumference</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for (relative) macrocephaly or microcephaly</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic eval</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Consider referral to a neurologist.</div></li><li class="half_rhythm"><div>Consider brain MRI as clinically indicated for seizures or focal neurologic concerns.</div></li><li class="half_rhythm"><div>Consider EEG if seizures are a concern.</div></li></ul>
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</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Development</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl motor, adaptive, cognitive, & speech-language eval</div></li><li class="half_rhythm"><div>Eval for early intervention / special education</div></li></ul>
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</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurobehavioral/</b>
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<br />
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<b>Psychiatric</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuropsychiatric eval</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For persons age >12 mos: screening for concerns incl ADHD, anxiety, &/or findings suggestive of ASD</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Musculoskeletal</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Orthopedics / physical medicine & rehab / PT & OT eval</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To incl assessment of:
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<ul><li class="half_rhythm"><div>Gross motor & fine motor skills</div></li><li class="half_rhythm"><div>Mobility, activities of daily living, & need for adaptive devices</div></li><li class="half_rhythm"><div>Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)</div></li></ul>
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</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal/</b>
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<br />
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<b>Feeding</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterology / nutrition / feeding team eval</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>To incl eval of nutritional status</div></li><li class="half_rhythm"><div>Consider eval for gastrostomy tube placement in persons who have inadequate nutrition or concern for dysphagia.</div></li></ul>
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</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Clinical assessment for signs & symptoms of GERD, chronic vomiting, & bowel dysmotility</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider referral to gastroenterologist.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Respiratory/</b>
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<br />
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<b>Sleep</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment for sleep disturbance</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider referral to sleep disorders clinic.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic counseling</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To obtain a <a class="def" href="/books/n/gene/glossary/def-item/pedigree/">pedigree</a> & inform affected persons & their families re nature, MOI, & implications of <i>KMT2E</i>-NDD to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
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<br />
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<b>& resources</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By clinicians, wider care team, & family support organizations</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of family & social structure to determine need for:
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<ul><li class="half_rhythm"><div>Community or <a href="/books/NBK602945/#kmt2e-ndd.Resources" target="mainwindow">online resources</a> such as <a href="https://www.p2pusa.org/" target="mainwindow" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a></div></li><li class="half_rhythm"><div>Social work involvement for parental support</div></li><li class="half_rhythm"><div>Home nursing referral</div></li></ul>
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</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; <i>KMT2E</i>-NDD = <i>KMT2E</i>-related neurodevelopmental disorder; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; OT = occupational therapy; PT = physical therapy</p></div></dd><dt>1. </dt><dd><div id="kmt2e-ndd.TF.3.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></div></div></div><div id="bk_toc_contnr"></div></div></div>
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<div class="post-content"><div><p>From: <a href="/books/NBK602945/" target="mainwindow"><i>KMT2E</i>-Related Neurodevelopmental Disorder</a></p><div class="iconblock clearfix ten_col"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/" target="mainwindow"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt"><div><div>GeneReviews<sup>®</sup> [Internet].</div><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" target="mainwindow" ref="pagearea=content-footer&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div></div></div><div class="half_rhythm"><a href="/books/about/copyright/" target="mainwindow">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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