Overview. Individuals with Foxp1-related disorder A mouse model for Foxp1-related disorder syndrome Stem cells in Foxp1-related disorder
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1 Fxp1 Syndrme Jseph D Buxbaum, PhD Directr, Seaver Autism Center Deputy Chair, Department f Psychiatry Icahn Schl f Medicine at Munt Sinai
2 Overview Individuals with Fxp1-related disrder A muse mdel fr Fxp1-related disrder syndrme Stem cells in Fxp1-related disrder
3 Phentyping Battery Dmain Glbal Cgnitive Ability Adaptive Behavir Language Mtr Functining Autism Symptms Other Symptms Measure Stanfrd Binet Intelligence Scales, Fifth Editin r Mullen Scales fr Early Learning Vineland Adaptive Behavir Scales, Secnd Editin Peabdy Picture Vcabulary Test, Furth Editin Expressive Vcabulary Test, Secnd Editin Vineland and Mullen Subscales Beery Visual-Mtr Integratin Test, Sixth Editin Mullen and Vineland Subscales Develpmental Crdinatin Disrder Questinnaire Autism Diagnstic Observatin Schedule, Secnd Editin (ADOS-2) Autism Diagnstic Interview-Revised (ADI-R) Scial Respnsiveness Scale, Secnd Editin (SRS-2) Repetitive Behavir Scales-Revised Behavir Assessment Scale fr Children, Secnd Editin (BASC-2) Behavir Rating Inventry f Executive Functining (BRIEF) Child Behavir Checklist (CBCL) Aberrant Behavir Checklist (ABC) Child & Adlescent Symptm Inventry, Fifth Editin (CASI-5) Sensry Prfile Questinnaire- Shrt Frm Paige Siper et al
4 Summary f Findings Fxp1 phentype based n prspective data cllectin (N=4): Delay in achievement f mtr and language milestnes Mtr deficits later characterized by visual-mtr integratin difficulties Expressive Language strnger than receptive language n clinicianadministered assessments Mild-t-mderate intellectual disability Autism Spectrum Disrder traits Cmrbid symptms: anxiety, bsessive-cmpulsive behavir, attentin prblems, and externalizing symptms An additinal 4 families scheduled fr the next 2 mnths Paige Siper et al
5 Intrducing a Fxp1 mutatin in mice Jsefa Sullivan and Anne Schaefer
6 Changes in brain mlecules in Fxp1 mutant mice Schaefer and clleagues have created a muse with a Fxp1 mutatin in rder t understand brain changes assciated with Fxp1 mutatin The muse is currently being characterized fr changes in brain mlecules, brain cells, and behavir Fr example, Schaefer and clleagues are examining the mlecular changes in brain cells, as a result f Fxp1 lss, in rder t understand the dwnstream effects Jsefa Sullivan and Anne Schaefer
7 Stem cells We are cllecting bld frm all families that cnsent Fr tw families s far, we have bld frm mther, father, affected child and a sibling Fr these families we have reprgrammed the bld cells int stem cells These cells can nw be made int nerve cells in petri dishes t understand hw lss f Fxp1 leads t changes in nerve cell functin Eldie Drapeau et al
8 Acknwledgements Thank yu t the Whitney family fr prviding supprt fr these studies Thank yu t the Seaver Fundatin fr supprting ur genetics-first appraches in autism and related neurdevelpmental disrders And a special thanks t the families that participate in ur studies
9 Please jin us! Fr questins r cmments, please me at admin.buxbaum@mssm.edu If yu are interested in participating in research, please cntact us at theseavercenter@mssm.edu r The Assciates Cmmittee is a grup f cmmitted stakehlders that drive the Center s scientific missin frward thrugh strategic and philanthrpic supprt. If yu are interested in learning mre abut the Assciates Cmmittee, please cntact Savannah Lennertz at savannah.lennertz@mssm.edu r T make a cntributin t the Seaver Center, please visit
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