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<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">Hallo,<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">bin aus anderem Grunde gerade über FOXP2 gestolpert und habe in ‚gene reviews‘ dies dazu gefunden (leider auf Englisch)<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">Herzliche Grüße<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">D. Wachweger, Landau/Pf.<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><i><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">Clinical characteristics.<o:p></o:p></span></i></p>
<p class="MsoNormal"><i><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a core phenotype: childhood apraxia of
speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, syllables, and words. All individuals with CAS – whether caused by an alteration of FOXP2 or of an unknown cause – have
difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody. Additional findings in FOXP2-related speech and language disorders can include oral motor dyspraxia
(difficulty planning or programming oral movements on command); dysarthria (a neuromuscular-based speech disorder that may affect nasal resonance, voice quality, prosody, and breath support for speech); moderate to severe receptive and expressive language
disorder; and reading and spelling impairments.<o:p></o:p></span></i></p>
<p class="MsoNormal"><i><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></i></p>
<p class="MsoNormal"><i><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D">The underlying genetic cause of FOXP2-related speech and language disorders is either disruption of FOXP2 only (referred to in this GeneReview
as FOXP2-only-related speech and language disorder) or large copy number variants (i.e., contiguous gene deletions), structural variants (i.e., chromosome translocation or inversion), or maternal uniparental disomy of chromosome 7 (UPD7) involving FOXP2 (here
referred to as FOXP2-plus speech and language disorders). The genetic alteration determines if only speech and language problems are present (FOXP2-only-related speech and language disorder) or if more global developmental and behavioral issues are likely
to be present as well (FOXP2-plus speech and language disorder). In FOXP2-only-related disorders, nonverbal (performance) IQ is typically more preserved compared to verbal IQ. Fine motor skills may be impaired (e.g., buttoning clothes, tying shoelaces), yet
gross motor skills are normal. Autistic features and dysmorphic findings have been reported in a few affected individuals. In FOXP2-plus-related disorders oral motor deficits, global developmental delay, and autism spectrum disorder are common.<o:p></o:p></span></i></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><a href="https://www.ncbi.nlm.nih.gov/books/NBK368474/"><span style="color:blue">https://www.ncbi.nlm.nih.gov/books/NBK368474/</span></a><o:p></o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
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<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Diese Nachricht kommt von ...</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"> <o:p></o:p></span></p>
<p class="MsoNormal"><b><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Dr. Dietrich Wachweger</span></b><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Facharzt für Kinder- und Jugendmedizin<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Caritas Betriebsträgergesellschaft mbH Speyer</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Frühförderzentrum (Sozialpädiatrisches Zentrum & Frühförderstelle)</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Caritasförderzentrum St. Laurentius und Paulus</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Queichheimer Hauptstr. 235</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">D-76829 Landau/Pf.</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Tel: 06341/599-281 oder 599-280 (Mo, Di, Fr)</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D"> </span><span lang="EN-US" style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">06341/599-124 (Sekretariat)</span><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Fax: 06341/599-252</span><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span lang="EN-US" style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">E-Mail: </span><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D"><a href="mailto:dietrich.wachweger@cbs-speyer.de"><span lang="EN-US" style="color:blue">dietrich.wachweger@cbs-speyer.de</span></a></span><span lang="EN-US" style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:black">Internet:
<a href="http://www.st-laurentiusundpaulus-cbs-speyer.de/"><span style="color:blue">www.st-laurentiusundpaulus-cbs-speyer.de</span></a><o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">Sie finden uns im Internet unter</span><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:#1F497D">
<a href="http://www.caritas-speyer.de/"><span style="color:blue">www.caritas-speyer.de</span></a><o:p></o:p></span></p>
<p class="MsoNormal"><b><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:red"><br>
"Sozial braucht Digital"<br>
</span></b><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:black">Unsere Caritas-Kampagne 2019:
</span><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:black"><a href="http://www.sozialbrauchtdigital.de"><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:blue">www.sozialbrauchtdigital.de</span></a></span><span style="font-size:10.0pt;font-family:"Arial","sans-serif";color:black"><o:p></o:p></span></p>
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<p class="MsoNormal"><span style="font-size:11.0pt;font-family:"Calibri","sans-serif";color:#1F497D"><o:p> </o:p></span></p>
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<p class="MsoNormal"><b><span style="font-size:10.0pt;font-family:"Tahoma","sans-serif"">Von:</span></b><span style="font-size:10.0pt;font-family:"Tahoma","sans-serif""> Sprachstoerung [mailto:sprachstoerung-bounces@lists.uni-halle.de]
<b>Im Auftrag von </b>Kofler Elisabeth<br>
<b>Gesendet:</b> Freitag, 19. Juli 2019 11:57<br>
<b>An:</b> sprachstoerung@lists.uni-halle.de<br>
<b>Betreff:</b> [SES-interdisziplinär] Prognose?<o:p></o:p></span></p>
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<p class="MsoNormal"><o:p> </o:p></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">Sehr geehrte Fachleute,
</span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">bei einem Kind mit psychomotorischer Entwicklungsstörung und fehlender Sprachentwicklung wurde die Mikrodeletion 7q31.1q31.2 nachgewiesen. Laut ärztlichem Befundbericht
sei diese Chromosomenveränderung in der Literatur bisher bei keinem anderen Patienten nachgewiesen worden (Stand 2014).
</span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">Im Rahmen dieser Chromosomenveränderung wurde u.a. der Verlust des FOXP2-Gens nachgewiesen, welches in Zusammenhang mit Sprech- und Sprachentwicklungsstörungen beschrieben
wird. </span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">Hat jemand Erfahrung mit Kindern mit ähnlicher Diagnose? Welcher Sprachstand ist prognostisch bis zu welchem Alter zu erwarten?
</span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">Mit freundlichen Grüßen,
</span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
<p style="line-height:150%"><span style="font-family:"Verdana","sans-serif";color:black">Elisabeth Kofler, akademische Sprachtherapeutin</span><span style="font-family:"Calibri","sans-serif";color:black"><o:p></o:p></span></p>
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