‘Why did my child de­vel­op Autism?’ It’s a ques­tion of­ten asked by par­ents who have a child with the de­vel­op­men­tal dis­or­der. As physi­cians, we try to ad­dress that ques­tion through­out our prac­tice, but Autism, in fact, is not a sin­gle con­di­tion; it is a spec­trum of dis­or­ders. At one end we have a child who is non-ver­bal and can­not speak, so he us­es tech­nol­o­gy to com­mu­ni­cate his thoughts and his con­cerns, and if he gets up­set enough, can be­come vi­o­lent to­wards oth­ers or him/her­self. At the oth­er end of the spec­trum, we have a child who is quite re­mark­able and gift­ed in math­e­mat­ics, yet, when it comes to try­ing to have a con­ver­sa­tion or be­ing so­cial, these things are more dif­fi­cult to him than oth­ers. What be­comes con­fus­ing to many par­ents, is that both of these chil­dren have the same di­ag­no­sis of Autism Spec­trum Dis­or­der (ASD).

One of the con­cerns is whether or not there re­al­ly is an epi­dem­ic of autism; these days, one in 88 chil­dren will be di­ag­nosed with autism. The da­ta shows an in­crease in preva­lence at the turn of the 21st cen­tu­ry. Is this a case of an in­crease in preva­lence over time, or is it be­cause we have now start­ed la­belling in­di­vid­u­als with autism by sim­ply giv­ing them the di­ag­no­sis when they were present be­fore the cri­te­ria for di­ag­no­sis even evolved? In fact, at the lat­ter part of the 20th cen­tu­ry, leg­is­la­tion was passed in the Unit­ed States (US) that ac­tu­al­ly pro­vid­ed autis­tic in­di­vid­u­als with re­sources and ac­cess to ed­u­ca­tion­al ma­te­r­i­al that would help them. With that in­creased aware­ness, more par­ents, pae­di­a­tri­cians and ed­u­ca­tors learned to recog­nise the fea­tures of autism and as a re­sult, more in­di­vid­u­als were di­ag­nosed and got ac­cess to the re­sources they need­ed. In ad­di­tion, the de­f­i­n­i­tion has changed and evolved over time that now has a broad­er spec­trum for the di­ag­no­sis.

When we com­pare autism with oth­er con­di­tions that we are fa­mil­iar with, for ex­am­ple, can­cer, heart dis­ease and di­a­betes, ge­net­ics seems to play a larg­er role in autism than it does in any of these oth­er con­di­tions. How­ev­er, it is not clear if one gene or a com­bi­na­tion of genes are re­spon­si­ble.

In fact, in some in­di­vid­u­als with autism, it is one sin­gle de­ter­mi­nant gene that caus­es the con­di­tion. In oth­er in­di­vid­u­als, how­ev­er, a com­bi­na­tion of genes in part, with the de­vel­op­ment process, ul­ti­mate­ly de­ter­mine that risk for autism. We do not know in any one per­son, which of those two an­swers ap­ply and so re­search start­ed dig­ging deep­er. How then do we iden­ti­fy what those genes are?

Cer­tain in­di­vid­u­als can have autism for a rea­son that is ge­net­ic, but not be­cause autism runs in the fam­i­ly. This is be­cause, in cer­tain in­di­vid­u­als, ge­net­ic changes can take place through mu­ta­tions not passed down from the par­ents. Such mu­ta­tions can take place in the egg or sperm at the time of con­cep­tion, but have not been passed down from gen­er­a­tion to gen­er­a­tion with­in the fam­i­ly.

We can now use that in­for­ma­tion to un­der­stand and iden­ti­fy those genes caus­ing autism in those in­di­vid­u­als. With cur­rent re­search it was found that 25% of cas­es were due to a sin­gle gene and 75% of cas­es were due to 200-400 genes that can cause Autism. This ex­plains in part why we see such a broad spec­trum in terms of its ef­fects. Al­though there are that many genes, there is some method to the mad­ness. It’s not sim­ply ran­dom, but these 200-400 genes fit to­geth­er in a path­way or net­work that starts to make sense in terms of how the brain func­tions. We are be­gin­ning to un­der­stand how these genes work to­geth­er to de­ter­mine neu­ronal func­tion and in­ter­ac­tion and how they con­trol be­hav­iour, both in autis­tic in­di­vid­u­als and in­di­vid­u­als with­out autism.

Ear­ly di­ag­no­sis is key. Be­ing able to make that di­ag­no­sis in a sus­cep­ti­ble in­di­vid­ual at a small win­dow pe­ri­od gives us the abil­i­ty to trans­form and be able to im­pact on the grow­ing and de­vel­op­ing brain and this is crit­i­cal.

To­day, with all this re­search, we are now able to take in­fants and use bio mark­ers such as eye con­tact and eye track­ing to iden­ti­fy an in­fant at risk. Be­ing able to screen on a very large scale will be very help­ful in terms of be­ing able to in­ter­vene at an ear­ly stage when we can have the great­est im­pact. In­ter­ven­tion can in­clude med­ica­tions, ed­u­ca­tion­al strate­gies and new tech­nolo­gies (like de­vices) to train the brain and make it more ef­fi­cient. Yet, there is still a long way to go.

As much as we know, there is so much more that we do not know. There is the need to use, as a com­mu­ni­ty, our col­lec­tive wis­dom to be able to make a dif­fer­ence.

For more in­for­ma­tion on ASD please log on to the Autis­tic So­ci­ety of Trinidad and To­ba­go’s Face­book page: https://www.face­book.com/autis­tic­so­ci­etytt/