{"id":2376,"date":"2026-08-03T22:01:31","date_gmt":"2026-08-03T20:01:31","guid":{"rendered":"https:\/\/roneuro.ro\/blog\/?p=2376"},"modified":"2026-08-03T22:01:31","modified_gmt":"2026-08-03T20:01:31","slug":"cauza-sindromului-down","status":"publish","type":"post","link":"https:\/\/roneuro.ro\/blog\/cauza-sindromului-down\/","title":{"rendered":"Care este cauza sindromului Down?"},"content":{"rendered":"\n<h2>Care este cauza sindromului Down?<\/h2>\n<p>Sindromul Down este o afec\u021biune genetic\u0103 cauzat\u0103 de un num\u0103r atipic de cromozomi [1]. De obicei, celulele umane con\u021bin 46 de cromozomi, aranja\u021bi \u00een 23 de perechi.<\/p>\n<p>Astfel, pacien\u021bii cu sindrom Down, au o copie suplimentar\u0103 a cromozomului 21, rezult\u00e2nd 47 de cromozomi \u00een loc de 46 obi\u0219nui\u021bi [2].<\/p>\n<p>Aceast\u0103 anomalie cromozomial\u0103 influen\u021beaz\u0103 cre\u0219terea fizic\u0103, tr\u0103s\u0103turile faciale \u0219i dezvoltarea cognitiv\u0103, model\u00e2nd totodat\u0103 un spectru unic de abilit\u0103\u021bi \u0219i personalit\u0103\u021bi. Aceste caracteristici definesc abilit\u0103\u021bile sau personalitatea individului [3].<\/p>\n<p>Prin urmare, nu exist\u0103 doi pacien\u021bi cu sindrom Down identic. Progresele \u00een domeniul <a href=\"https:\/\/www.roneuro.ro\/specialitati\/neurologie.html\">asisten\u021bei medicale<\/a>, educa\u021bia \u0219i con\u0219tientizarea social\u0103 contribuie la o speran\u021b\u0103 de via\u021b\u0103 mai lung\u0103 \u0219i experien\u021be de via\u021b\u0103 mai bogate [4].<\/p>\n<p>Interven\u021bia timpurie multidisciplinar\u0103 este unul dintre cei mai importan\u021bi factori \u00een sprijinirea dezvolt\u0103rii copiilor cu sindrom Down [5].<\/p>\n<h2>Care sunt formele sindromului Down?<\/h2>\n<p>Prezen\u021ba si dominan\u021ba anumitor tr\u0103s\u0103turi specifice Sindromului Down pot fi diferite de la un pacient la altul, \u00een func\u021bie de caracteristicile cromozomului 21 suplimentar [6]. Din acest motiv Sindromul Down a fost \u00eemp\u0103r\u021bit \u00een urm\u0103toarele trei categorii:<\/p>\n<ul>\n<li><strong>Trisomia 21<\/strong> (\u00een 95% din cazuri, cromozomul suplimentar apare \u00een fiecare celul\u0103) [7];<\/li>\n<li><strong>Mozaicism<\/strong> (\u00een 2%-4% din cazuri, cromozomul suplimentar apare \u00een anumite celule, gener\u00e2ndu-se un mozaic de celule tipice \u0219i atipice) [8];<\/li>\n<li><strong>Sindromul Down de translocare<\/strong> (\u00een 3% din cazuri, cromozomul suplimentar, sau o parte din el, se ata\u0219eaz\u0103 la un alt cromozom) [9].<\/li>\n<\/ul>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"aligncenter wp-image-2378\" src=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-scaled.jpg\" alt=\"\" width=\"650\" height=\"440\" title=\"\" srcset=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-scaled.jpg 2560w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-300x203.jpg 300w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-1024x693.jpg 1024w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-768x520.jpg 768w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-1536x1039.jpg 1536w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-2048x1385.jpg 2048w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-750x507.jpg 750w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/formele-sindromului-down-1140x771.jpg 1140w\" sizes=\"(max-width: 650px) 100vw, 650px\" \/><\/p>\n<h2>Resurse \u0219i suport pentru pacien\u021bi<\/h2>\n<p>Dac\u0103 ave\u021bi sau urmeaz\u0103 s\u0103 ave\u021bi un copil cu Sindromul Down, o evaluare poate fi util\u0103 pentru a primi recomand\u0103ri personalizate. Programa\u021bi-v\u0103 acum la o consulta\u021bie <span style=\"font-weight: 400;\">contact\u00e2nd recep\u021bia <strong>Institutului RoNeuro<\/strong> la num\u0103rul de telefon<\/span><b> <a href=\"tel:+40374462222\">0374 46 2222<\/a><\/b><span style=\"font-weight: 400;\">, <strong>luni \u0219i mar\u021bi \u00eentre orele 08:00 &#8211; 19:00<\/strong>, iar de <strong>miercuri p\u00e2n\u0103 vineri \u00eentre orele 08:00 &#8211; 18:00<\/strong>. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">La momentul program\u0103rii, pute\u021bi opta \u0219i pentru consulta\u021bie neurologic\u0103 gratuit\u0103, decontat\u0103 prin Casa Na\u021bional\u0103 de Asigur\u0103ri de S\u0103n\u0103tate. <\/span><\/p>\n<p style=\"text-align: center;\"><a style=\"background-color: #6852ed; color: white; text-decoration: none; border: none; padding: 10px 20px; cursor: pointer; display: inline-block;\" href=\"https:\/\/www.roneuro.ro\/progamari.html\">Program\u0103ri online neurologie<\/a><\/p>\n<p><span style=\"font-weight: 400;\">Locui\u021bi \u00eentr-o zon\u0103 izolat\u0103 sau nu v\u0103 pute\u021bi deplasa la clinic\u0103? Institutul RoNeuro ofer\u0103 \u0219i op\u021biunea de <\/span><a href=\"https:\/\/www.roneuro.ro\/telemedicina.html\" target=\"_blank\" rel=\"noopener\">telemedicin\u0103<\/a>.<\/p>\n<h2>Care sunt caracteristicile fizice \u0219i dezvoltarea cognitiv\u0103 asociat\u0103 sindromului Down?<\/h2>\n<h3>Caracteristici fizice<\/h3>\n<p>Pacien\u021bii cu sindrom Down pot fi recunoscu\u021bi pe baza unor tr\u0103s\u0103turi fizice specifice [10], precum:<\/p>\n<ul>\n<li>Profil facial aplatizat, \u00een special podul nasului,<\/li>\n<li>Ochi oblici \u00een sus,<\/li>\n<li>O limb\u0103 care tinde s\u0103 ias\u0103 din gur\u0103,<\/li>\n<li>Nas, m\u00e2ini, picioare \u0219i urechi mici, g\u00e2t scurt,<\/li>\n<li>O singur\u0103 cut\u0103 ad\u00e2nc\u0103 pe palm\u0103,<\/li>\n<li>Tonus muscular sc\u0103zut (hipotonie) \u00een copil\u0103rie.<\/li>\n<\/ul>\n<p><img decoding=\"async\" class=\"aligncenter wp-image-2379\" src=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-scaled.jpg\" alt=\"\" width=\"650\" height=\"559\" title=\"\" srcset=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-scaled.jpg 2560w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-300x258.jpg 300w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-1024x881.jpg 1024w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-768x661.jpg 768w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-1536x1321.jpg 1536w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-2048x1762.jpg 2048w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-750x645.jpg 750w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/trasaturi-fizice-sindrom-down-1140x981.jpg 1140w\" sizes=\"(max-width: 650px) 100vw, 650px\" \/><\/p>\n<h3>Diferen\u021be cognitive<\/h3>\n<p>Dezvoltarea cognitiv\u0103 asociat\u0103 sindromului Down este caracterizat\u0103 prin dizabilit\u0103\u021bi [11] intelectuale u\u0219oare p\u00e2n\u0103 la moderate, afect\u00e2nd:<\/p>\n<ul>\n<li>\u00cenv\u0103\u021barea,<\/li>\n<li>Memoria,<\/li>\n<li>Dezvoltarea limbajului,<\/li>\n<li>Aptitudinile de rezolvare a problemelor.<\/li>\n<\/ul>\n<p>Cu toate acestea, abilit\u0103\u021bile cognitive variaz\u0103 foarte mult. Unii pacien\u021bi pot \u00eenv\u0103\u021ba eficient\u00a0 citirea [12], scrierea \u0219i comunicarea, dezvolt\u00e2ndu-\u0219i unele abilit\u0103\u021bi practice, \u00een timp ce la al\u021bii, dezvoltarea limbajului este \u00eent\u00e2rziat\u0103.<\/p>\n<h2>Care sunt afec\u021biunile asociate sindromului Down?<\/h2>\n<p>Unii pacien\u021bi cu sindrom Down au empatie, sociabilitate \u0219i con\u0219tientizare emo\u021bional\u0103 bine dezvoltate [13]. Cu toate acestea, din punct de vedere biologic persoanele cu sindrom Down pot avea afec\u021biuni asociate [14], precum:<\/p>\n<ul>\n<li>Defecte <a href=\"https:\/\/www.roneuro.ro\/specialitati\/cardiologie.html\">cardiace<\/a> congenitale,<\/li>\n<li><a href=\"https:\/\/roneuro.ro\/blog\/ce-este-hipoacuzia\/\">Probleme de auz<\/a> \u0219i de vedere,<\/li>\n<li><a href=\"https:\/\/www.roneuro.ro\/specialitati\/somnologie.html\">Tulbur\u0103ri ale somnului<\/a>,<\/li>\n<li>Tulbur\u0103ri <a href=\"https:\/\/www.roneuro.ro\/specialitati\/endocrinologie.html\">tiroidiene<\/a>,<\/li>\n<li>Infec\u021bii.<\/li>\n<\/ul>\n<p><img decoding=\"async\" class=\"aligncenter wp-image-2377\" src=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-scaled.jpg\" alt=\"\" width=\"700\" height=\"288\" title=\"\" srcset=\"https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-scaled.jpg 2560w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-300x123.jpg 300w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-1024x421.jpg 1024w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-768x316.jpg 768w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-1536x632.jpg 1536w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-2048x843.jpg 2048w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-750x309.jpg 750w, https:\/\/roneuro.ro\/blog\/wp-content\/uploads\/2026\/08\/afectiuni-asociate-sindromului-down-1140x469.jpg 1140w\" sizes=\"(max-width: 700px) 100vw, 700px\" \/><\/p>\n<blockquote><p>Cu \u00eengrijire medical\u0103 adecvat\u0103, aceste afec\u021biuni pot fi tratate sau gestionate eficient.<\/p><\/blockquote>\n<h2>De ce fiecare copil cu sindrom Down este diferit?<\/h2>\n<p>Fiecare copil cu sindrom Down este diferit deoarece abilit\u0103\u021bile, personalit\u0103\u021bile \u0219i vie\u021bile lor sunt diferite [15]. Factorii care contribuie la aceast\u0103 diversitate sunt:<\/p>\n<ul>\n<li>Variabilitatea genetic\u0103,<\/li>\n<li>Influen\u021ba mediului,<\/li>\n<li>Tipul de sindrom Down,<\/li>\n<li>Personalitatea individual\u0103.<\/li>\n<\/ul>\n<p><strong>Variabilitatea genetic\u0103<\/strong> se refer\u0103 la exprimarea genetic\u0103 (chiar dac\u0103 cromozomul suplimentar este comun), aceasta fiind diferit\u0103 de la un individ la altul [16].<\/p>\n<p><strong>Influen\u021bele de mediu<\/strong> depind de educa\u021bie, familie, accesul la asisten\u021b\u0103 medical\u0103 \u0219i oportunit\u0103\u021bile sociale toate acestea av\u00e2nd un rol important \u00een dezvoltare [17].<\/p>\n<p><strong>Tipul de sindrom Down<\/strong> influen\u021beaz\u0103 severitatea \u0219i num\u0103rul simptomelor, de exemplu, persoanele cu sindrom Down mozaic au simptome mai pu\u021bine sau mai pu\u021bin pronun\u021bate [18].<\/p>\n<p><strong>Personalitatea individual\u0103<\/strong> este un factor determinant deoarece copiii cu sindrom Down au temperamente, interese \u0219i talente unice, fiecare av\u00e2nd propria identitate, puncte forte \u0219i aspira\u021bii [19].<\/p>\n<h2>Care este perspectiva calit\u0103\u021bii vie\u021bii pacien\u021bilor cu sindrom Down?<\/h2>\n<p>Cu ajutorul \u00eengrijirii adecvate \u0219i sprijin social, nivelul de calitate a vie\u021bii pentru persoanele cu sindrom Down s-au \u00eembun\u0103t\u0103\u021bit, chiar dac\u0103 etapele de dezvoltare, precum mersul, vorbitul \u0219i abilit\u0103\u021bile de auto\u00eengrijire, sunt \u00eenv\u0103\u021bate mai t\u00e2rziu dec\u00e2t la ceilal\u021bi copii [20], deoarece pot s\u0103:<\/p>\n<ul>\n<li>Frecventeze \u0219coli obi\u0219nuite,<\/li>\n<li>Participe la activit\u0103\u021bi comunitare,<\/li>\n<li>Dezvolte prietenii \u0219i s\u0103 se conecteze \u00een re\u021bele sociale,<\/li>\n<li>Ob\u021bin\u0103 un loc de munc\u0103 conform aptitudinilor,<\/li>\n<li>Tr\u0103iasc\u0103 semi-independent sau independent.<\/li>\n<\/ul>\n<p>Calitatea vie\u021bii este influen\u021bat\u0103 de gradul de integrare social\u0103, acceptare \u0219i oportunit\u0103\u021bi. Atunci c\u00e2nd persoanele cu sindrom Down sunt sprijinite \u0219i apreciate \u00een cadrul comunit\u0103\u021bilor lor, ele pot avea vie\u021bi \u00eemplinite [21].<\/p>\n<p>Copiii se pot dezvolta mai bine \u00een cadrul familiilor care le ofer\u0103 \u00eencurajare, educa\u021bie \u0219i oportunit\u0103\u021bi de independen\u021b\u0103. Acest lucru le \u00eembun\u0103t\u0103\u021be\u0219te atitudinile sociale, contribuind la reducerea stigmatiz\u0103rii \u0219i promovarea egalit\u0103\u021bii de \u0219anse [22].<\/p>\n<h2>Care este rolul interven\u021biilor timpurii?<\/h2>\n<p>Programele de terapie \u00eencep \u00een copil\u0103rie (c\u00e2t mai devreme) \u0219i sunt concepute pentru a aborda proactiv \u00eent\u00e2rzierile de dezvoltare ajutorul mai multor forme de interven\u021bii [23] precum:<\/p>\n<ul>\n<li>Terapie <a href=\"https:\/\/www.roneuro.ro\/specialitati\/recuperare-medicina-fizica-si-balneologie.html\">fizic\u0103<\/a>,<\/li>\n<li>Terapie <a href=\"https:\/\/roneuro.ro\/blog\/logopedia-in-neurologie\/\">logopedic\u0103<\/a>,<\/li>\n<li>Terapie ocupa\u021bional\u0103,<\/li>\n<li>Programe de educa\u021bie special\u0103.<\/li>\n<\/ul>\n<p>Astfel, <strong>terapia fizic\u0103<\/strong> contribuie la \u00eembun\u0103t\u0103\u021birea tonusului muscular, a coordon\u0103rii \u0219i dezvolt\u0103rii abilit\u0103\u021bilor motorii [24], \u00een timp ce <strong>terapia logopedic\u0103<\/strong> este orientat\u0103 spre dezvoltarea abilit\u0103\u021bilor de comunicare, prin metode verbale \u0219i nonverbale [25].<\/p>\n<p>Pe de alt\u0103 parte <strong>terapia ocupa\u021bional\u0103<\/strong> se concentreaz\u0103 pe \u00eenv\u0103\u021barea aptitudinilor vie\u021bii de zi cu zi, precum hr\u0103nirea, \u00eembr\u0103catul \u0219i sp\u0103latul [26]. Nu \u00een ultimul r\u00e2nd, <strong>programele de educa\u021bie special\u0103<\/strong> creeaz\u0103 strategii de \u00eenv\u0103\u021bare care se potrivesc nevoilor pacientului [27].<\/p>\n<p>Prin urmare, <a href=\"https:\/\/roneuro.ro\/blog\/exercitii-de-kinetoterapie-pentru-recuperare\/\">interven\u021bia timpurie<\/a> \u00eembun\u0103t\u0103\u021be\u0219te semnificativ rezultatele cognitive, sociale \u0219i fizice, permi\u021b\u00e2ndu-le copiilor s\u0103 \u00ee\u0219i dezvolte abilit\u0103\u021bi fundamentale care favorizeaz\u0103 \u00eenv\u0103\u021barea ulterioar\u0103 \u0219i independen\u021ba [28].<\/p>\n<p>Instruirea \u0219i sprijinul acordat familiilor are \u00een vedere consolidarea strategiilor de dezvoltare a copiilor acas\u0103, cre\u00e2ndu-le un mediu adecvat \u0219i protector [29].<\/p>\n<h2>Concluzii<\/h2>\n<p>Sindromul Down este o afec\u021biune genetic\u0103 generat\u0103 de prezen\u021ba unei copii suplimentar\u0103 a cromozomului 21, care afecteaz\u0103 dezvoltarea fizic\u0103 \u0219i cognitiv\u0103 \u00een moduri variate. Cu toate acestea, sindromul Down nu e o limitare a valorii sau poten\u021bialul unei persoane.<\/p>\n<p>Fiecare individ cu sindrom Down este unic, modelat de o combina\u021bie de factori genetici, de mediu \u0219i personali. De\u0219i exist\u0103 \u00eent\u00e2rzieri de dezvoltare \u0219i anumite probleme de s\u0103n\u0103tate, ele pot fi gestionate eficient cu \u00eengrijire \u0219i sprijin de specialitate.<\/p>\n<p>Progresele moderne \u00een medicin\u0103, educa\u021bie \u0219i integrare social\u0103 au transformat via\u021ba persoanelor cu sindrom Down, permi\u021b\u00e2ndu-le s\u0103 participe activ \u00een societate av\u00e2nd o via\u021b\u0103 \u00eemplinit\u0103. Interven\u021bia timpurie favorizeaz\u0103 maximizarea dezvolt\u0103rii \u0219i independen\u021bei.<\/p>\n<p>\u00cen\u021belegerea sindromului Down necesit\u0103 dep\u0103\u0219irea stereotipurilor \u0219i recunoa\u0219terea individualit\u0103\u021bii, demnit\u0103\u021bii \u0219i capacit\u0103\u021bilor fiec\u0103rei persoane.<\/p>\n<h2>Referin\u021be<\/h2>\n<ol>\n<li>Mayo Foundation for Medical Education and Research, Down syndrome. Available at: <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/symptoms-causes\/syc-20355977\" target=\"_blank\" rel=\"noopener\">https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/symptoms-causes\/syc-20355977<\/a><\/li>\n<li>Pal A, Daley SF. Down Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 20, 2026. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30252272\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30252272\/<\/a><\/li>\n<li>Starbuck JM, Cole TM 3rd, Reeves RH, Richtsmeier JT. The Influence of trisomy 21 on facial form and variability. Am J Med Genet A. 2017;173(11):2861-2872. doi:10.1002\/ajmg.a.38464. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5679727\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5679727\/<\/a><\/li>\n<li>Hendrix JA, Amon A, Abbeduto L, et al. Opportunities, barriers, and recommendations in down syndrome research. Transl Sci Rare Dis. 2021;5(3-4):99-129. doi:10.3233\/trd-200090. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8279178\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8279178\/<\/a><\/li>\n<li>Piatti AE, Stefani B, Bini G, Bargagna S. Multidisciplinary early intervention in Down syndrome: a retrospective study. Minerva Pediatr (Torino). Published online June 15, 2022. doi:10.23736\/S2724-5276.22.06797-0. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35708035\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/35708035\/<\/a><\/li>\n<li>Pal A, Daley SF. Down Syndrome. [Updated 2026 Feb 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available at: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK526016\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK526016\/<\/a><\/li>\n<li>Heinke D, Isenburg JL, Stallings EB, et al. Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study. Birth Defects Res. 2021;113(2):189-202. doi:10.1002\/bdr2.1854. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7978493\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7978493\/<\/a><\/li>\n<li>International Mosaic Down Syndrome Association, Mosaic Down syndrome happens during cell division during and\/or after conception. Available at: <a href=\"https:\/\/www.imdsa.org\/faq-and-mds-facts\" target=\"_blank\" rel=\"noopener\">https:\/\/www.imdsa.org\/faq-and-mds-facts<\/a><\/li>\n<li>Kusre G, Sarma M, Nirmolia T, Shankarishan P. Robertsonian translocation T (21; 21) in a female born to normal parents: a case report. J Clin Diagn Res. 2015;9(1):GD01-GD2. doi:10.7860\/JCDR\/2015\/10638.5372. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4347097\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4347097\/<\/a><\/li>\n<li>U.S. Centers for Disease Control and Prevention, Down Syndrome. Available at: <a href=\"https:\/\/www.cdc.gov\/birth-defects\/about\/down-syndrome.html\" target=\"_blank\" rel=\"noopener\">https:\/\/www.cdc.gov\/birth-defects\/about\/down-syndrome.html<\/a><\/li>\n<li>Onnivello S, Pulina F, Locatelli C, et al. Cognitive profiles in children and adolescents with Down syndrome. Sci Rep. 2022;12(1):1936. Published 2022 Feb 4. doi:10.1038\/s41598-022-05825-4. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35121796\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/35121796\/<\/a><\/li>\n<li>Loveall SJ, Barton-Hulsey A. Reading Skills in Down Syndrome: Implications for Clinical Practice. Semin Speech Lang. 2021;42(4):330-344. doi:10.1055\/s-0041-1730991. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34311484\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/34311484\/<\/a><\/li>\n<li>Kasari C, Freeman SF, Bass W. Empathy and response to distress in children with Down syndrome. J Child Psychol Psychiatry. 2003;44(3):424-431. doi:10.1111\/1469-7610.00132. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/12635971\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/12635971\/<\/a><\/li>\n<li>What conditions or disorders are commonly associated with Down syndrome?, National Institutes of Health. Available at: <a href=\"https:\/\/www.nichd.nih.gov\/health\/topics\/down\/conditioninfo\/associated\" target=\"_blank\" rel=\"noopener\">https:\/\/www.nichd.nih.gov\/health\/topics\/down\/conditioninfo\/associated<\/a><\/li>\n<li>Karmiloff-Smith A, Al-Janabi T, D&#8217;Souza H, et al. The importance of understanding individual differences in Down syndrome. F1000Res. 2016;5:F1000 Faculty Rev-389. Published 2016 Mar 23. doi:10.12688\/f1000research.7506.1. 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Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4178155\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4178155\/<\/a><\/li>\n<li>Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers. 2020;6(1):9. Published 2020 Feb 6. doi:10.1038\/s41572-019-0143-7. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8428796\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8428796\/<\/a><\/li>\n<li>Gartstein MA, Marmion J, Swanson HL. Infant Temperament: An Evaluation of Children with Down Syndrome. J Reprod Infant Psychol. 2006;24:31-41. doi:10.1080\/02646830500475237. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2270255\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2270255\/<\/a><\/li>\n<li>AbuAlhommos AK, Al Hawaj MA, Alanazi AA, Alrashidi HH, Aldawsari MF, Alajmi RA. Quality of Life for Patients with Down Syndrome and Their Caregivers: A Cross-Sectional Study from a Parental Perspective in Saudi Arabia. Healthcare (Basel). 2025;13(13):1614. Published 2025 Jul 6. doi:10.3390\/healthcare13131614. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12250501\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12250501\/<\/a><\/li>\n<li>Alrayes N, Issa NM, Alghubayshi OY, et al. Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent-reported measures. Mol Genet Genomic Med. 2024;12(1):e2337. doi:10.1002\/mgg3.2337. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10767681\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10767681\/<\/a><\/li>\n<li>Noroozi F, Farrar Z, Gharibi T, Gashmard R. Family Self-Support in Managing Down Syndrome Children: A Qualitative Study. 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Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30788876\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30788876\/<\/a><\/li>\n<li>Rvachew S, Folden M. Speech therapy in adolescents with Down syndrome: In pursuit of communication as a fundamental human right. Int J Speech Lang Pathol. 2018;20(1):75-83. doi:10.1080\/17549507.2018.1392605. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29124959\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/29124959\/<\/a><\/li>\n<li>Raj S, Stanley M, Mackintosh S, Fryer C. Scope of occupational therapy practice for adults with both Down syndrome and dementia: A cross-sectional survey. Aust Occup Ther J. 2020;67(3):218-228. doi:10.1111\/1440-1630.12645. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31984512\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pubmed.ncbi.nlm.nih.gov\/31984512\/<\/a><\/li>\n<li>Soccorso C, Hojlo M, Pawlowski K, et al. Development, education, and services in children with Down syndrome: a cohort analysis from a clinical database. Front Psychol. 2024;15:1348404. Published 2024 Oct 24. doi:10.3389\/fpsyg.2024.1348404. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11542095\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11542095\/<\/a><\/li>\n<li>Ding L. The Importance of Early Intervention in Children Diagnosed with Trisomy 21, Journal of Down Syndrome &amp; Chromosome Abnormalities. Available at: <a href=\"https:\/\/www.longdom.org\/open-access\/the-importance-of-early-intervention-in-children-diagnosed-with-trisomy-21-1103739.html\" target=\"_blank\" rel=\"noopener\">https:\/\/www.longdom.org\/open-access\/the-importance-of-early-intervention-in-children-diagnosed-with-trisomy-21-1103739.html<\/a><\/li>\n<li>Skelton B, Knafl K, Van Riper M, Fleming L, Swallow V. Care Coordination Needs of Families of Children with Down Syndrome: A Scoping Review to Inform Development of mHealth Applications for Families. Children (Basel). 2021;8(7):558. Published 2021 Jun 29. doi:10.3390\/children8070558. Available at: <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8304112\/\" target=\"_blank\" rel=\"noopener\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8304112\/<\/a><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Care este cauza sindromului Down? Sindromul Down este o afec\u021biune genetic\u0103 cauzat\u0103 de un num\u0103r atipic de cromozomi [1]. De obicei, celulele umane con\u021bin 46 de cromozomi, aranja\u021bi \u00een 23 de perechi. Astfel, pacien\u021bii cu sindrom Down, au o copie suplimentar\u0103 a cromozomului 21, rezult\u00e2nd 47 de cromozomi \u00een loc de 46 obi\u0219nui\u021bi [2]. Aceast\u0103 [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":2382,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"jnews-multi-image_gallery":[],"jnews_single_post":{"subtitle":"","format":"standard","override":[{"template":"6","parallax":"1","fullscreen":"1","layout":"no-sidebar","sidebar":"default-sidebar","second_sidebar":"default-sidebar","sticky_sidebar":"1","share_position":"floatbottom","share_float_style":"share-normal","show_share_counter":"1","show_view_counter":"1","show_featured":"1","show_post_meta":"1","show_post_author_image":"1","show_post_date":"1","post_date_format":"default","post_date_format_custom":"Y\/m\/d","show_post_category":"1","show_post_reading_time":"1","post_reading_time_wpm":"300","post_calculate_word_method":"str_word_count","show_zoom_button":"1","zoom_button_out_step":"2","zoom_button_in_step":"3","show_post_tag":"1","show_popup_post":"1","show_comment_section":"1","number_popup_post":"3","show_post_related":"1","show_inline_post_related":"0"}],"image_override":[{"single_post_thumbnail_size":"crop-500","single_post_gallery_size":"crop-500"}],"trending_post_position":"meta","trending_post_label":"Trending","sponsored_post_label":"Sponsored by","disable_ad":"0"},"jnews_primary_category":[],"jnews_override_counter":{"view_counter_number":"0","share_counter_number":"0","like_counter_number":"0","dislike_counter_number":"0"},"footnotes":""},"categories":[6],"tags":[],"class_list":["post-2376","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurologie"],"_links":{"self":[{"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/posts\/2376","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/comments?post=2376"}],"version-history":[{"count":2,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/posts\/2376\/revisions"}],"predecessor-version":[{"id":2381,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/posts\/2376\/revisions\/2381"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/media\/2382"}],"wp:attachment":[{"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/media?parent=2376"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/categories?post=2376"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/roneuro.ro\/blog\/wp-json\/wp\/v2\/tags?post=2376"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}