How autism in girls may help re­veal the dis­or­der’s se­crets Closer looks are find­ing gen­der-based sur­prises

Kuwait Times - - HEALTH & SCIENCE -

Think autism and an im­age of an awk­ward boy typ­i­cally emerges, but the way autism strikes girls - or doesn’t - may help re­veal some of the de­vel­op­men­tal dis­or­der’s frus­trat­ing se­crets. Autism is at least four times more com­mon in boys, but sci­en­tists tak­ing a closer look are find­ing some gen­der-based sur­prises: Many girls with autism have so­cial skills that can mask the con­di­tion. And some girls do not show symp­toms of autism even when they have the same ge­netic mu­ta­tions seen in boys with the con­di­tion. “Autism may not be the same thing in boys and girls,” said Kevin Pelphrey, an autism re­searcher at Ge­orge Wash­ing­ton Univer­sity.

The causes of autism aren’t known. Ge­netic mu­ta­tions are thought to play a role, and out­side fac­tors in­clud­ing older par­ents and pre­ma­ture birth also have been im­pli­cated. But the gen­der ef­fect is now a hot topic in autism re­search and one that could lead to new ways of di­ag­nos­ing and treat­ing a con­di­tion that af­fects at least 1 in 68 US chil­dren.

What sci­ence shows

Brain imag­ing sug­gests there may be an ad­di­tional ex­pla­na­tion for why many girls with autism have more sub­tle symp­toms than boys, Pelphrey said. Even in girls who clearly have autism, he said, brain re­gions in­volved in so­cial be­hav­ior that are nor­mally af­fected are less se­verely im­paired.

Also, re­cent stud­ies on autism-linked genes have found that girls can have the same kinds of ge­netic mu­ta­tions seen in boys with autism, but not show symp­toms. They “even need to have twice as many mu­ta­tions on aver­age to ac­tu­ally man­i­fest with autism,” said Joseph Buxbaum, di­rec­tor of an autism cen­ter at Mount Si­nai med­i­cal school in New York. He is among re­searchers try­ing to iden­tify a “pro­tec­tive fac­tor” that may ex­plain how some girls at ge­netic risk re­main un­af­fected - per­haps a pro­tein or other bi­o­log­i­cal marker that could be turned into a drug or other ther­apy to treat or even pre­vent autism. That pos­si­bil­ity is likely a long way off, but Pelphrey said this line of re­search has prompted ex­cite­ment among autism sci­en­tists.

Autism sis­ters project

Buxbaum is in­volved in the Autism Sis­ters Project, which is seek­ing to en­roll hun­dreds of fam­i­lies with autis­tic sons but un­af­fected daugh­ters. The project be­gan last year with the goal of build­ing a big data­base that sci­en­tists can use to look for ge­netic clues and pro­tec­tive fac­tors. Girls and their fam­i­lies visit the New York lab to give saliva sam­ples for DNA anal­y­sis and ef­forts are un­der­way to ex­pand DNA col­lec­tion to other sites. Evee Bak, 15, hopes her sam­ples will eventually ben­e­fit her older brother Tommy. The sub­ur­ban Philadel­phia sib­lings are just a year apart. They play in a garage band- Evee on drums, Tommy on gui­tar and vo­cals. He’s a mas­ter­ful mu­si­cian, but has trou­ble read­ing so­cial cues and do­ing things that come easy to other teens, like shop­ping alone or us­ing public trans­porta­tion. Her fo­cus is “tak­ing care of Tommy and making sure he’s happy and healthy,” Evee said.

Tommy was di­ag­nosed at age 3, af­ter he stopped us­ing words he’d learned months ear­lier and showed un­usual be­hav­ior in­clud­ing repet­i­tively lin­ing up toys in­stead of play­ing with them. “He’s a won­der­ful per­son and I don’t think that we’d ever want to change him,” said his mother, Erin Lopes. But they’d wel­come any­thing that could help him func­tion as in­de­pen­dently as pos­si­ble “be­cause I think that’s what he re­ally wants, is to be in­de­pen­dent.”

Making a di­ag­no­sis

Autism is di­ag­nosed by ob­serv­ing be­hav­ior, there’s no blood test for it. Some ex­perts say gen­der-based dif­fer­ences high­light a need to de­velop dif­fer­ent ways to eval­u­ate boys and girls. Autism screen­ing, rec­om­mended for kids start­ing at 18 months, uses tools based on re­search in autis­tic boys, said Rachel Loftin, clin­i­cal di­rec­tor of an autism cen­ter at Rush Univer­sity Med­i­cal Cen­ter in Chicago.

One widely used screen­ing ques­tion­naire for par­ents in­cludes ques­tions like “Does your child play make-be­lieve, make eye con­tact, seek praise, show in­ter­est in other chil­dren?” Girls with autism, es­pe­cially mild cases, of­ten don’t show ob­vi­ous prob­lems in those cat­e­gories they’re more likely than af­fected boys to play pre­tend with toys rather than lin­ing them up by size or shape. Loftin said they’re also more likely to show con­cern for another per­son’s feel­ings.

Government data show that all forms of autism, mild to se­vere, are more com­mon in boys and that the aver­age age at di­ag­no­sis is 4 years in boys and girls. But Loftin said anec­do­tal ev­i­dence sug­gests a two-year lag time in di­ag­no­sis for girls, es­pe­cially those with mild cases. And she sus­pects many cases are missed or mis­di­ag­nosed. That means a de­lay in early in­ten­sive be­hav­ior ther­apy that is the main treat­ment for autism. Some girls man­age to cam­ou­flage symp­toms un­til pres­sures to fit in at school be­come over­whelm­ing, de­lay­ing di­ag­no­sis un­til around age 8 or 9, said Aly­cia Hal­la­day, chief sci­ence of­fi­cer at the Autism Sci­ence Foun­da­tion, a non­profit ed­u­ca­tional and re­search-fund­ing group which is pay­ing for the Sis­ters Project. The prom­i­nent autism ad­vo­cate, pro­fes­sor and au­thor Tem­ple Grandin wasn’t fully ver­bal un­til age 4. “It was ob­vi­ous some­thing was dras­ti­cally wrong with me,” Grandin said. But she said she learned to adapt, in part be­cause with “1950’s par­ent­ing” she was faced with in­tense en­cour­age­ment to de­velop so­cial skills and other tal­ents.

Par­ents’ con­cerns

Al­li­son Klein wor­ried about her daugh­ter, Jil­lian, for three years be­fore the lit­tle girl was fi­nally di­ag­nosed with mild autism. Jil­lian couldn’t tol­er­ate loud noises, she grew with­drawn around her preschool class­mates and she lagged be­hind aca­dem­i­cally. She was la­beled anx­ious, not autis­tic. “She didn’t meet the stereo­typ­i­cal be­hav­iors of no eye con­tact, no communication, hand flap­ping,” Klein said. Teach­ers and doc­tors sug­gested she was just shy and would grow out of it. A few months ago, just be­fore Jil­lian turned 6, Loftin con­firmed Klein’s con­cerns.

Even Pelphrey, the autism re­searcher, had a sim­i­lar ex­pe­ri­ence. His daugh­ter, Frances, was di­ag­nosed al­most four years af­ter her be­hav­ior raised con­cerns. She didn’t walk or talk un­til she was al­most 3 years old. She tried to be “cud­dly” and in­ter­act with oth­ers, but some­times she did so awk­wardly. “No­body re­ally wanted to make the call,” Pelphrey said. “Had she been a boy, there would have been much more pres­sure to look into it.” — AP

IS­LAM­ABAD: The US Embassy in Is­lam­abad has is­sued a last minute-visa to an ail­ing 6-yearold Pak­istani girl des­per­ately in need of surgery in the United States. Shahid Ul­lah, the fa­ther of Maria, says that the fam­ily is “so happy” at the news and thanked friends and sup­port­ers world over who helped them. Ul­lah, a poor mer­chant who owns a shop sell­ing blan­kets has cam­paigned for nearly four years seek­ing treat­ment for Maria, who suf­fers from a ge­netic dis­or­der known as Morquio Syn­drome in which the ver­te­brae com­press the spinal cord. Ul­lah says he and his wife will ac­com­pany Maria to a chil­dren’s hospi­tal in Wilm­ing­ton, Delaware, that has agreed to do the pro­ce­dure for free. — AP

NEW YORK: In this July 7, 2016, photo, Evee Bak, left, talks with her brother Tom Bak while they wait to talk with re­porters at the Seaver Autism Cen­ter at Mount Si­nai Hospi­tal . — AP

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