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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p><i>KMT2E</i>-Related Neurodevelopmental Disorder: Treatment of Manifestations</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK602945/table/kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Developmental delay&#x000a0;/</b>
<br />
<b>Intellectual disability&#x000a0;/</b>
<br />
<b>Neurobehavioral issues</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="/books/NBK602945/#kmt2e-ndd.Developmental_Delay__Intellect" target="mainwindow">Developmental Delay&#x000a0;/ Intellectual Disability Management Issues</a>.</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Seizures</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standardized treatment w/ASM by experienced neurologist</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.</div></li><li class="half_rhythm"><div>1 affected person experienced developmental regression while being treated w/ketogenic diet; more data is required to determine if ketogenic diet is contraindicated in this condition.&#x000a0;<sup>1</sup></div></li><li class="half_rhythm"><div>Education of parents/caregivers&#x000a0;<sup>2</sup></div></li></ul>
</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Gastroesophageal reflux&#x000a0;/ Vomiting</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Standard therapy per gastroenterologist</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Bowel dysmotility&#x000a0;/</b>
<br />
<b>Constipation</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Sleep disturbance</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment per sleep medicine specialist</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At least 1 affected person has been treated w/melatonin.</td></tr><tr><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
<b>Family/Community</b>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ensure appropriate social work involvement to connect families w/local resources, respite, &#x00026; support.</div></li><li class="half_rhythm"><div>Coordinate care to manage multiple subspecialty appointments, equipment, medications, &#x00026; supplies.</div></li></ul>
</td><td headers="hd_h_kmt2e-ndd.T.kmt2erelated_neurodevelopmen_2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ongoing assessment of need for palliative care involvement &#x00026;/or home nursing</div></li><li class="half_rhythm"><div>Consider involvement in adaptive sports or <a href="https://www.specialolympics.org/" target="mainwindow" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">Special Olympics</a>.</div></li></ul>
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy</p></div></dd><dt>1. </dt><dd><div id="kmt2e-ndd.TF.4.1"><p class="no_margin">
<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><dt>2. </dt><dd><div id="kmt2e-ndd.TF.4.2"><p class="no_margin">Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see <a href="https://www.epilepsy.com/tools-resources/forms-resources#Epilepsy-Foundation-Toolbox" target="mainwindow" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">Epilepsy Foundation Toolbox</a>.</p></div></dd></dl></div></div></div><div id="bk_toc_contnr"></div></div></div>
<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&amp;targetsite=external&amp;targetcat=link&amp;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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