Health Alert

March 21st is World Down Syn­drome Day. To mark the oc­ca­sion, we tell you what Down Syn­drome is all about, its causes, ef­fects, treat­ment and more…

Health & Nutrition - - CONTENTS - DR SEEMA THAKUR MS (Obs & Gy­nae), DM (Med Ge­net­ics); Sr Con­sul­tant, Ge­netic and Fe­tal Medicine, For­tis La Femme

Un­der­stand­ing Down Syn­drome

Down Syn­drome, also known as tri­somy 21, is a com­mon chro­mo­some ab­nor­mal­ity that oc­curs amongst new-borns when they have a full or par­tial ex­tra copy of chro­mo­some 21 (the nu­cleus of each cell is typ­i­cally sup­posed to have 23 pairs of chro­mo­somes). This hap­pens be­cause of a process known as ‘nondis­junc­tion’, i.e. when ge­netic ma­te­ri­als fail to sep­a­rate dur­ing the for­ma­tion of the nu­clei. Usu­ally, this ex­tra chro­mo­some comes from the mother. The ad­di­tion of this ge­netic ma­te­rial changes the de­vel­op­ment pat­tern and man­i­fests it­self thor­ough var­i­ous char­ac­ter­is­tics which are as­so­ci­ated with Down Syn­drome. One of the lead­ing causes of men­tal re­tar­da­tion, the in­ci­dence of Down Syn­drome, world­wide is one in ev­ery 1,000 peo­ple.


Chil­dren, who have been di­ag­nosed with Down Syn­drome, typ­i­cally have dys­mor­phic fa­cial fea­tures which in­clude up slant­ing eyes (palpe­bral fis­sures

and epi­can­thic folds), flat fa­cial pro­file, flat nasal bridge, ir­reg­u­larly shaped (folded or dys­plas­tic) ears which are usu­ally low-set, a rel­a­tively large tongue in com­par­i­son to the mouth and de­creased mus­cle tone.

They also have the abil­ity to ex­tend the joints be­yond the usual ca­pac­ity and have short broad hands and san­dal gap toes (a large spac­ing be­tween the big toe and its neigh­bour­ing toe).


About 40-50% of chil­dren af­flicted with Down Syn­drome have as­so­ci­ated mal­for­ma­tion in other or­gans like the heart (con­gen­i­tal heart dis­ease) or the gas­troin­testi­nal tract (in­testi­nal ab­nor­mal­i­ties).

They are also more prone to de­vel­op­ing Alzheimer’s, leukaemia, seizure disor­ders, sleep ap­nea and skin disor­ders.

60-80% have hear­ing de­fects. They tend to have sev­eral eye re­lated prob­lems and de­velop obe­sity in their ado­les­cence and early child­hood.

Thyroid func­tion and skele­tal prob­lems also oc­cur at a higher fre­quency in chil­dren with Down Syn­drome.

One of the biggest chal­lenges faced by par­ents is the in­tel­lec­tual dis­abil­ity that such chil­dren suf­fer from.

Med­i­cal re­search has hy­poth­e­sized that pre­na­tal in­ter­ven­tions will give these chil­dren a bet­ter chance at im­prov­ing their cog­ni­tive func­tion­ing. The clin­i­cal di­ag­no­sis of Down Syn­drome, how­ever, is con­firmed by ge­netic tests.


Down Syn­drome usu­ally oc­curs in chil­dren who are born to el­derly moth­ers, i.e. 35 years and above. How­ever, this is not set in stone. It could also oc­cur in chil­dren born to young moth­ers if there is a ge­netic his­tory of Down Syn­drome in the fam­ily. There­fore, dur­ing preg­nancy, dur­ing the 11th and 12th week, it is im­per­a­tive to un­dergo screen­ing. This can be done through a blood test and an ul­tra­sound.

These tests are usu­ally done on women who are at a lower risk of con­ceiv­ing a child with Down Syn­drome.

How­ever, amongst high risk can­di­dates, de­fin­i­tive tests in­clud­ing al­pha fe­to­pro­tein (AFP), nuchal translu­cency screen­ing (NT), am­nio­cen­te­sis and chori­onic vil­lus sam­pling (CVS) are con­ducted.


While there is no cure for chil­dren who are suf­fer­ing from Down Syn­drome, early med­i­cal sup­port and de­vel­op­men­tal in­ter­ven­tions can go a long way in im­prov­ing the qual­ity of their life. Reg­u­lar check-ups with health pro­fes­sion­als to mon­i­tor men­tal and phys­i­cal growth, timely in­ter­ven­tion, be it phys­io­ther­apy, coun­selling or spe­cial ed­u­ca­tion, can help meet the health­care needs of chil­dren with Down Syn­drome.

Com­mu­nity-based sup­port systems like spe­cial schools also en­able the par­tic­i­pa­tion of chil­dren with Down Syn­drome into main­stream so­ci­ety and help in the ful­fill­ment of their personal po­ten­tial.

Life ex­pectancy for chil­dren with Down Syn­drome has im­proved no­tice­ably in re­cent decades. Nowa­days, car­diac surgery, vac­ci­na­tions, an­tibi­otics, thyroid hor­mones, leukaemia ther­a­pies, and anti-con­vul­sive drugs have sig­nif­i­cantly im­proved the qual­ity of life of in­di­vid­u­als with Down Syn­drome. The life ex­pectancy that was hardly 30 years in the 1960s has now in­creased to more than 60 years of age.


Fam­i­lies who have chil­dren with Down Syn­drome have to be ac­tively coun­selled about what the con­di­tion en­tails. The care­givers need to be made aware of the dif­fer­ent is­sues that such chil­dren will face, and should be given a fair idea of the course of de­vel­op­ment that such chil­dren will go through.

Due to the fact that chil­dren with Down Syn­drome suf­fer from mild men­tal re­tar­da­tion, early in­ter­ven­tion can help. They can be taught to do sim­ple repet­i­tive tasks.

As the con­di­tion is in­cur­able, these chil­dren need to be han­dled with pa­tience, love and care. They will not be able to func­tion like nor­mal chil­dren and ex­pect­ing them to do so is also in­hu­mane. While com­mu­ni­cat­ing with them might be a chal­lenge, they have a very gen­tle tem­per­a­ment. A pos­i­tive at­ti­tude on the part of the care­giver is in­stru­men­tal in en­sur­ing the de­vel­op­ment of chil­dren with Down Syn­drome.

It can get tir­ing and frus­trat­ing but one has to be pa­tient in their ap­proach. Ac­cep­tance of the con­di­tion will make it eas­ier for the child to adapt to his or her sur­round­ings. Ge­netic coun­selling plays a cen­tral role in the man­age­ment of chil­dren with Down Syn­drome. Coun­selling has to be an on­go­ing process as it is com­plex and each case is chal­leng­ing in its own right.


50 years af­ter the dis­cov­ery of the ori­gin of tri­somy 21, peo­ple with this dis­or­der con­tinue to suf­fer the con­se­quences of an ex­tra copy of chro­mo­some 21. Com­pro­mised well-be­ing and the pres­ence of car­diac disor­ders and other health prob­lems, in­clud­ing cog­ni­tive dys­func­tion, place these peo­ple out­side of the main­stream, even in highly ad­vanced cul­tures. How­ever, re­cent ad­vances show that it may be pos­si­ble soon to de­ci­pher the un­der­ly­ing ge­netic and molec­u­lar bases for their dis­abil­ity and for creating ef­fec­tive treat­ments. Con­tin­ued and increasing in­vest­ments in re­search on the ge­netic and molec­u­lar ba­sis of tri­somy 21 prom­ise to trans­form the lives of these in­di­vid­u­als and the com­mu­ni­ties in which they live.

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