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<title>Table 5. [KMT2E-Related Neurodevelopmental Disorder: Recommended Surveillance]. - GeneReviews® - NCBI Bookshelf</title>
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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p><i>KMT2E</i>-Related Neurodevelopmental Disorder: Recommended Surveillance</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_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_3_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of growth parameters, incl head circumference <sup>1</sup></td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_3" rowspan="8" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Monitor those w/seizures as clinically indicated. <sup>2</sup></div></li><li class="half_rhythm"><div>Assess for new manifestations such as seizures or changes in tone.</div></li></ul>
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</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor developmental progress & educational needs.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for anxiety, ADHD, ASD, aggression, & self-injury.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_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_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical medicine, OT/PT assessment of mobility, self-help skills</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor for chronic vomiting & constipation.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Respiratory/Sleep</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for signs/symptoms of sleep disturbance.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family/Community</b>
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</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">OT = occupational therapy; PT = physical therapy</p></div></dd><dt>1. </dt><dd><div id="kmt2e-ndd.TF.5.1"><p class="no_margin">To assess for macrocephaly, relative macrocephaly, and microcephaly (see <a href="/books/NBK602945/#kmt2e-ndd.Clinical_Characteristics" target="mainwindow">Clinical Characteristics</a>)</p></div></dd><dt>2. </dt><dd><div id="kmt2e-ndd.TF.5.2"><p class="no_margin">Careful monitoring is required if an affected individual is placed on a ketogenic diet, given that one affected individual placed on this therapy experienced developmental regression (without improvement in seizure control) [<a class="bk_pop" href="/books/NBK602945/#kmt2e-ndd.REF.odonnellluria.2019.1210" data-bk-pop-rid="/books/NBK602945/def-item/kmt2e-ndd.REF.odonnellluria.2019.1210/" data-bk-pop-others="">O'Donnell-Luria et al 2019</a>].</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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