Girls & autism

It can be sub­tle, or ab­sent for some at risk

Daily Local News (West Chester, PA) - - LIVING - By Lind­sey Tan­ner

CHICAGO >> Think autism and an im­age of an awk­ward boy typ­i­cally emerges. The de­vel­op­men­tal dis­or­der 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 are born with­out autism de­spite the same ge­netic mu­ta­tions seen in boys with the con­di­tion.

The gen­der ef­fect is 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 U.S. chil­dren.

Bet­ter un­der­stand­ing of gen­der’s role is key to help­ing the most peo­ple, said Kevin Pelphrey, an autism re­searcher at Ge­orge Wash­ing­ton Univer­sity. “Autism may not be the same thing in boys and girls.”

WHAT SCI­ENCE SHOWS

The causes of autism aren’t known but var­i­ous ge­netic mu­ta­tions are thought to play a role and out­side fac­tors in­clud­ing older par­ents and pre­ma­ture birth also have been im­pli­cated.

Brain imag­ing sug­gests there may be an ad­di­tional ex­pla­na­tion for why many girls with autism have more sub­tle symp­toms, Pelphrey said.

“The sur­pris­ing thing we are find­ing is that even in girls who clearly have autism,” brain re­gions in­volved in so­cial be­hav­ior that are nor­mally af­fected are less se­verely im­paired, he said.

Re­cent stud­ies on autism-linked genes have found an­other gen­der dif­fer­ence.

Girls can have the same kinds of ge­netic mu­ta­tions seen in boys with autism, “and even need to have twice as many mu­ta­tions on av­er­age to ac­tu­ally man­i­fest with autism,” said Jo-

seph Buxbaum, di­rec­tor of an autism cen­ter at Mount Si­nai med­i­cal school in New York City.

Buxbaum 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.

MAK­ING A DI­AG­NO­SIS

There’s no autism blood test. It’s di­ag­nosed by ob­serv­ing be­hav­ior and some ex­perts say gen­der-based dif­fer­ences high­light a need to de­velop dif­fer­ent ways to eval­u­ate boys and girls.

Autism screen­ing is rec­om­mended for all kids at age 18 months and 2 years. But screen­ing tools typ­i­cally are 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 fo­cuses on so­cial deficits seen more of­ten in autis­tic boys than af­fected girls. Ques­tions in­clude “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 school pres­sures to fit in 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.

Prom­i­nent autism ad­vo­cate, pro­fes­sor and au­thor Tem­ple Grandin didn’t fit that mold. She wasn’t fully ver­bal un­til age 4. “It was ob­vi­ous some­thing was dras­ti­cally wrong with me,” Grandin said. With “1950’s par­ent­ing” in­clud­ing in­tense en­cour­age­ment to de­velop so­cial skills and other tal­ents, she said she learned to adapt.

A MOM’S CON­CERN

Al­li­son Klein wor­ried about pos­si­ble autism in her daugh­ter, Jil­lian, for three years be­fore the lit­tle girl was fi­nally di­ag­nosed. Jil­lian couldn’t tol­er­ate loud noises, grew with­drawn around her preschool class­mates and lagged be­hind their aca­demic progress. She was la­beled anx­ious, not autis­tic.

“She didn’t meet the stereo­typ­i­cal be­hav­iors of no eye con­tact, no com­mu­ni­ca­tion, hand flap­ping,” Klein said. “It was al­ways the hands-off ap­proach” from teach­ers and doc­tors.”

“They’d say “‘Let’s wait and see. Give her some time, she’ll grow out of it. She’s just shy,’” Klein re­called. “Peo­ple dis­miss it in girls.”

A few months ago, just be­fore Jil­lian turned 6, Rush Univer­sity’s Loftin con­firmed Klein’s con­cerns. Jil­lian has mild autism. Now the fam­ily is play­ing catch-up in get­ting her needed ser­vices.

SIB­LINGS AND AUTISM

Buxbaum, the Mount Si­nai re­searcher, is seek­ing to en­roll hun­dreds of fam­i­lies with autis­tic sons but un­af­fected daugh­ters in a study look­ing for ge­netic clues and pro­tec­tive fac­tors. Funded by the Autism Sci­ence Foun­da­tion, the Autism Sis­ters Project be­gan last year with the goal of build­ing a big data­base that other sci­en­tists can use. 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 saliva 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.

“The thing at the fore­front of my mind is mostly just 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.” On­line: CDC & Autism: http://tinyurl.com/zarznp2

Fol­low AP Med­i­cal Writer Lind­sey Tan­ner at http://www.twit­ter.com/ Lind­seyTan­ner . Her work can be found at http://bigstory.ap.org/con­tent/lind

SETH WENIG — THE AS­SO­CI­ATED PRESS

In this 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 in New York.

SETH WENIG — THE AS­SO­CI­ATED PRESS

In this photo, Evee Bak gives a saliva sam­ple for ge­netic test­ing while her mother, Erin Lopes, looks on at the Seaver Autism Cen­ter at Mount Si­nai in New York.

SETH WENIG — THE AS­SO­CI­ATED PRESS

In this photo, Erin Lopes gives a saliva sam­ple for ge­netic test­ing while her daugh­ter Evee Bak looks on at the Seaver Autism Cen­ter at Mount Si­nai Hospi­tal in New York.

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