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, Maria Paola Bonasoni, Renata Bartesaghi, Sandra Guidi. - In: CLINICAL NEUROLOGY AND NEUROSURGERY. - ISSN 0303-8467. - ELETTRONICO. - 194:(2020), pp. 1-12. [10.1016/j.clineuro.2020.105870]
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-ordercontrolprocessesobservedinindividualswithDSstartingfrominfancyI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
