Objectives:Down syndrome (DS) is a genetic condition characterized by cognitive disability starting from in-fancy.ChildrenwithDSexhibitdeficitsinseveralcognitivedomains,includingexecutivefunction,i.e.,asetofcognitiveprocessesthatheavilydependonhigher-orderthalamicnuclei.Thegoalofthisstudywastoestablishwhetherexecutivefunction-relatedthalamicnucleioffetuseswithDSexhibitneuroanatomicalalterationsthatmaycontributetothedefectsinhigher-ordercontrolprocessesseeninchildrenwithDS.Patients and Methods:InbrainsectionsfromfetuseswithDSandcontrolfetuses(gestationalweek17–22),weevaluatedthecellularityinthemediodorsalnucleus(MD),thecentromediannucleus(CM),andtheparafasci-cularnucleus(PF)ofthethalamusandthedensityofproliferatingcellsinthethirdventricle.Results:We found that all three nuclei had a notably reduced cell density. This defect was associated with areduceddensityofproliferatingcellsinthethirdventricle,suggestingthatthereducedcellularityintheMD,CM,andPFoffetuseswithDSwasduetoneurogenesisimpairment.TheseparateevaluationofprojectionneuronsandinterneuronsintheMD,CM,andPFshowedthatinfetuseswithDSthedensityofprojectionneuronswasreduced,withnochangesininterneurondensity.Conclusion:ThisstudyprovidesnovelevidenceforDS-linkedcellularityalterationsintheMD,CM,andPFandsuggeststhatalteredsignalprocessinginthesenucleimaybeinvolvedintheimpairmentinhigher-ordercontrolprocessesobservedinindividualswithDSstartingfrominfancy

Neuroanatomical Alterations in Higher-Order Thalamic Nuclei of Fetuses With Down Syndrome

Fiorenza Stagni;Andrea Giacomini;Marco Emili;Beatrice Uguagliati;Renata Bartesaghi;Sandra Guidi
2020

Abstract

Objectives:Down syndrome (DS) is a genetic condition characterized by cognitive disability starting from in-fancy.ChildrenwithDSexhibitdeficitsinseveralcognitivedomains,includingexecutivefunction,i.e.,asetofcognitiveprocessesthatheavilydependonhigher-orderthalamicnuclei.Thegoalofthisstudywastoestablishwhetherexecutivefunction-relatedthalamicnucleioffetuseswithDSexhibitneuroanatomicalalterationsthatmaycontributetothedefectsinhigher-ordercontrolprocessesseeninchildrenwithDS.Patients and Methods:InbrainsectionsfromfetuseswithDSandcontrolfetuses(gestationalweek17–22),weevaluatedthecellularityinthemediodorsalnucleus(MD),thecentromediannucleus(CM),andtheparafasci-cularnucleus(PF)ofthethalamusandthedensityofproliferatingcellsinthethirdventricle.Results:We found that all three nuclei had a notably reduced cell density. This defect was associated with areduceddensityofproliferatingcellsinthethirdventricle,suggestingthatthereducedcellularityintheMD,CM,andPFoffetuseswithDSwasduetoneurogenesisimpairment.TheseparateevaluationofprojectionneuronsandinterneuronsintheMD,CM,andPFshowedthatinfetuseswithDSthedensityofprojectionneuronswasreduced,withnochangesininterneurondensity.Conclusion:ThisstudyprovidesnovelevidenceforDS-linkedcellularityalterationsintheMD,CM,andPFandsuggeststhatalteredsignalprocessinginthesenucleimaybeinvolvedintheimpairmentinhigher-ordercontrolprocessesobservedinindividualswithDSstartingfrominfancy
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi, Sandra Guidi
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/775200
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