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PLoS One. 2015; 10(5): e0126743.
Published online 2015 May 14. doi: 10.1371!ou"nal.#one.0126743
PM$%&: PM$4431'32
Disproportionate Fetal Growth and the Riskfor Congenital Cerebral Palsy in Singleton
Births
lani S"e!a*1*+ ,essi-a . Mille" *1 $hunsen u*2 /odil . /e-h*3 La"s ennin Pede"sen*2*3 &iana. S-hendel*3*4*5 Pee" ldall*6*7 and ,"n Olsen1*2*3
Oliie" /aud* -adei- dio"
uho" ino"aion 8 "i-le noes 8 $o#y"ih and Li-ense ino"aion 8
9his a"i-le has been -ied by ohe" a"i-les in PM$.
o o:
Abstract
Objectie
9o inesiae he asso-iaion beeen #"o#o"ionaliy o eal and #la-enal "oh easu"ed a
bi"h and he "is< o" -onenial -e"eb"al #alsy ($P).
St!dy Design
e ideniied all lie=bo"n sinleons bo"n in &ena"< beeen 1>>5 and 2003 and olloed
he "o 1 yea" o ae unil &e-ebe" 31s* 200'. %no"aion on ou" indi-es o eal "oh:
#onde"al inde?* head -i"-ue"en-e abdoinal -i"-ue"en-e "aio* -e#hali@aion inde? and bi"h eih #la-ena eih "aio as -olle-ed. $o? #"o#o"ional ha@a"ds "e"ession odels
e"e used o esiae ad!used ha@a"d "aios (aA) and >5B -oniden-e ine"als ($%). ll
easu"eens e"e ealuaed as esaional ae and se? s#e-ii- @=s-o"es and in @=s-o"e #e"-enile "ou#s* ad!used o" #oenial -onounde"s* and s"aiied on esaional ae "ou#s
(C32* 32=36* 37=3'* 3>* 40* D41 ee
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Concl!sions
$P is asso-iaed ih dis#"o#o"ions beeen bi"h eih* bi"h lenh* #la-enal eih andhead -i"-ue"en-e suesin #"e and #e"inaal -ondiions -on"ibue o eal "oh "es"i-ion
in -hild"en ih $P.
o o:
"ntrod!ction
$onenial -e"eb"al #alsy ($P) is he os -oon #hysi-al deelo#enal disabiliy in -hild"en
o--u""in ih a bi"h #"ealen-e o 2 #e" 1000 lie bi"hsE1* 2F. 9he #ahoenesis o $P has
been a"ibued o anenaal as ell as in"a#a"u a-o"s. %n"aue"ine "oh "es"i-ion indu-ed
by anenaal -ondiions and "esulin in lo bi"h eih o" esaional ae is one o he ain"is< indi-ao"sE3F.
&is#"o#o"ionae o" Gasye"i-H eal "oh has been deined by abno"al "aios oanh"o#oe"i- easu"eens a bi"h o" a ien esaional ae. $o? el alE4F hae deinedasye"i- "oh as a lae" onse o "edu-ed body eih o" esaional ae asso-iaed ih
a"o#hi- ine"nal o"ans and hih b"ainlie" "aio. Siila"ly* Ia"do@@a el alE5F des-"ibe
asye"i- "oh as a lae onse dis#"o#o"ion* ih he eal lenh and head -i"-ue"en-e
-o""es#ondin o"e o esaional ae han o eih o" abdoinal -i"-ue"en-e. 9he ealeih=#la-enal eih "aio is anohe" -lini-ally sinii-an easu"een ha has been used o
des-"ibe eal dis#"o#o"ional "oh E6F.
Jeal "oh abno"aliies* hi-h ay in-lude boh sye"i- o" asye"i- "oh* ay beindu-ed by a ide a"iey o anenaal a-o"s in-ludin #oenial "is< a-o"s o" $P su-h as
#la-enal abno"aliiesE7 K >F* #a"enal aeE10 K 17F* soF and ae"nal y#e 1=diabeesE11F*E30F. P"eious
sudies on he asso-iaion beeen $P and nebo"n anh"o#oe"i- easu"eens hae osly
been liied o analyses o bi"h eih o" a ien esaional ae. sso-iaions o "adiionalinde?es o asye"i- "oh ih $P hae "e-eied lile aenion. lhouh sudies based on
anh"o#oe"i- easu"eens ihou iain -anno die"eniae beeen a"ious -auses o
asye"i- "oh and o"an si@e* su-h sudies ay di"e- uu"e sudies u"he" e?ainin $Peioloy. e hae unde"a
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9his sudy as a##"oed by he &anish &aa P"oe-ion en-y 2010=41=4543 on &e-ebe"
14h* 2011* Aesea"-h hi- $oiee and nie"siy o $alio"nia* Los neles %nsiuional
Aeie /oa"d. %no"ed $onsen as aied be-ause ino"aion inolin he sub!e-s as"e-o"ded in su-h a anne" ha he sub!e- -ould no be ideniied di"e-ly o" h"ouh ideniie"s
lin>6 and &e-ebe" 31* 2003. O hese* 503*7'4 e"e alie and did no ei"ae "o &ena"<
beo"e one yea" ae" bi"h and e"e used in he analysis (S1 Ji). ddiional ino"aion abou
he "eis"ies is aailable a .ds.d>7* #la-ena eih()* abdoinal -i"-ue"en-e(-)* and head -i"-ue"en-e(-) all
easu"ed a bi"h as obained "o he &anish Medi-al /i"h Aeise". %no"aion on
esaional ae a bi"h "eise"ed in he &anish Medi-al /i"h Aeise" as esiaed "o lasens"ual #e"iod and ad!used i needed by ul"asound easu"es du"in ea"ly #"enan-yE 34F.
%no"aion on -hild se? a bi"h* ae"nal so
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obained "o he &anish Medi-al /i"h Aeise". e obained ino"aion on ea-h #a"ens
hihes leel o -o#leed edu-aion o" "ainin a yea" o bi"h o he -hild "o he &anish
$iil Aeis"aion Syse daabaseE31F. e used he hihes edu-aion leel "o eihe" #a"enas a a"4
days beo"e and u# o 10 days ae" dae o bi"h o he -hild.
Definition of ariables st!died
%n addiion o sudyin asso-iaions o anh"o#oe"i- easu"eens easu"ed a bi"h ih $P:
bi"h eih* #la-enal eih* bi"h lenh* head -i"-ue"en-e* and abdoinal -i"-ue"en-e*e also sudied asso-iaions o "aios o hese easu"eens ih $P. 9hese "aios in-lude:
#onde"al inde?E35F (bi"h eih()Ebi"h lenh(-)F3)* head=abdoinal -i"-ue"en-e
"aioE36F* -e#hali@aion inde? (head -i"-ue"en-e(-)bi"h eih()) and bi"h eih=
#la-ena eih inde?E37F.
$hild se? and esaional ae s#e-ii- =s-o"es E(a-ual alue= #o#ulaion ean)sanda"d
deiaion o" #o#ulaion ean)F based on he non=$P #o#ulaion e"e -al-ulaed o" all hese
easu"eens and "aios and used in he analysis.
Statistical Analysis
$ha"a-e"isi-s o -hild"en in ou" -oho" s"aiied by $P s non=$P e"e analy@ed as
#"o#o"ions* eans sanda"d deiaions (S&). ll -hild"en e"e olloed "o one yea" o aeunil a "e#o"ed dianosis o $P in he &anish Iaional $e"eb"al Palsy Aeise"* deah*
ei"aion* o" &e-ebe" 31* 200'* hi-hee" o--u""ed i"s* as a un-ion o e?#osu"e oanh"o#oe"i- easu"eens easu"ed a bi"h (bi"h eih* bi"h lenh* head -i"-ue"en-e*abdoinal -i"-ue"en-e* #la-enal eih) and indi-es o "oh #"o#o"ionaliy (#onde"al
inde?* -e#hali@aion inde?* head=abdoinal -i"-ue"en-e "aio* and bi"h eih=#la-ena "aio).
?#osu"es e"e ealuaed boh as -oninuous @=s-o"es and in "ou#s o #e"-enile @=s-o"e (Q10*R10K25*R 25K75 ("ee"en-e)* R75K>0* R>0). e addiionally e?ained hese asso-iaions in
s"aa o esaional ae (C32* 32K36* 37K3'* 3>* 40* D41 ee5B
-oniden-e ine"als ($%) e"e esiaed by $o? #"o#o"ional ha@a"d "e"ession odels usin
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref031https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s002https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref035https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref036https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref037https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref031https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s002https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref035https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref036https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.ref037
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PAO$ PA in SS e"sion >.2E3'F. d!used ha@a"d "aios (aA) in-luded ad!usen o"
ae"nal ae (C20* 20K25* 25K30* 30)* #ae"nal ae (C25 25K30* 30K35* 35)* ae"nal
so4*>25)*
ae"nal so'2)* #ae"nal ae (n N 11*412)* ae"nal ae (n N
3)* and i"s liebo"n (n N 4).
/e-ause o he hih nube" o issin alues o" edu-aion* so.2E3'F.
o o:
Res!lts
e ideniied 503*7'4 sinleon nebo"ns ha su"ied o" did no ei"ae #"io" o 1 yea" o ae
(dae o bi"h365). on hese* he"e e"e >'3 -oni"ed -ases o $P. 9he -ha"a-e"isi-s o
he sub!e-s a"e #"esened in 9able 1. $P inans e"e o"e li
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9able 1
Pregnancy characteristics of the cohort according to the presence of CP in the infant'
Median @=s-o"es o" -e#hali@aion inde? and head=abdoinal -i"-ue"en-e "aio e"e hihe" in$P inans* hile edian @=s-o"es e"e loe" in $P inans s. non=$P inans o" all ohe"
easu"es (S2 9able). %n ully ad!used odels* -oninuous @=s-o"es o" all anh"o#oe"i-easu"eens e"e sinii-anly and neaiely asso-iaed ih $P ih As a"yin beeen
0.72 and 0.'5 (9able 2). Sensiiiy analyses o" 9able 2 asso-iaions usin -o#lee #a"i-i#andaa analysis shoed siila" "esuls (S3 9able).
9able 2
&a(ard Ratios )&R* for CP according to newborn anthropo%etric %eas!res and indices
)all s!bjects*'
Birth +eight, Birth -ength, Abdo%inal Circ!%ference, and Placenta +eight
9he asso-iaion ih $P o" die"en #e"-enile leels o @=s-o"e o" bi"h eih* bi"h lenh*
abdoinal -i"-ue"en-e and #la-enal eih shoed siila" "esuls (Ji 1* S4 9able). Lo @=
s-o"es e"e #osiiely asso-iaed ih $P o" all easu"eens hile a hih @=s-o"e o" bi"heih as sinii-anly neaiely asso-iaed ih $P. Ji 1/ (S5 9able) shos ha he
neaie asso-iaion beeen hese a-o"s and $P as inde#enden o esaional ae s"aa.
Ji 1
: a@a"d Aaios (A) o" $P a--o"din o 5 #e"-enile "ou#s (Q10* R10K25* R25K75
("ee"en-e)* R75K>0* R>0 #e"-enile) o se? and esaional ae ad!used @=s-o"es o" bi"heih* bi"h '''
&ead Circ!%ference
9he asso-iaions o head -i"-ue"en-e @=s-o"es ih $P a--o"din o #e"-enile leel (Ji 2 and S4 9able) and a--o"din o esaional ae (Ji (Ji2/ 2/ and and2$* 2$* S6 9able) s"aa
a"e shon. 9he daa sho ha* ih he e?-e#ion o e"y #"ee" inans (C 32 ee
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$P* bu his G=sha#edH asso-iaion as only sinii-an o" -hild"en bo"n a 37K3' o" 41
ee0* R>0 #e"-enile) o se? and esaional ae ad!used @=s-o"es o"
headabdoinal -i"-ue"en-e '''
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/table/pone.0126743.t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s005https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s008https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s008https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s008https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/table/pone.0126743.t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s005https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s006https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/table/pone.0126743.t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s005https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s008https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s008https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g003/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/table/pone.0126743.t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s005https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/#pone.0126743.s006https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431832/figure/pone.0126743.g004/
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Birth +eight/Placenta +eight Ratio
hihe" bi"h eih=#la-ena eih "aio @=s-o"e as neaiely and sinii-anly asso-iaedih $P (9able 2). 9his asso-iaion is osly e?#lained by he in-"eased "is< o $P o" -hild"en
ih a "aio Q 10h #e"-enile (Ji 5). Ieaie asso-iaions o -oninuous @=s-o"es o" bi"h
eih#la-ena eih "aio ih $P e"e siila" a-"oss s"aa o esaional ae* bu onlysinii-an o" -hild"en bo"n a C 32 ee5B$%: 1.15K1.'0).
9he s-ienii- lie"au"e -on-e"nin he asso-iaion o #onde"al inde? ih $P is -onli-in. %n
1>>2* /lai" and Sanley "e#o"ed ha 23B o he -hild"en ih $P hae a lo #onde"al inde?.E42F Subseuenly* illias e al "e#o"ed an asso-iaion beeen $P and lo #onde"al inde? in
inans bo"n ih lo #a" s-o"eE43F. %n he sae yea"* hoee"* a la"e" &anish sudyE44Found no sinii-an -o""elaion beeen $P and #onde"al inde?. %n a "e-en sudy* in-ludin onlye" delie"ies* &ahlsen e al ound a s"on linea" neaie asso-iaion beeen #onde"al inde?
and he "is< o $P.E45F 9hey addiionally ound ha -hild"en ih he "eaes body lenh and
la"es head -i"-ue"en-e bu ih a lo #onde"al inde? had an e?-ess "is< o s#asi-uad"i#lei- and dys
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ead $i"-ue"en-e as obse"ed o be #osiiely asso-iaed ih $P hen lo* as ell as
hen hih -oni"in indins #"eiously "e#o"ed by /lai" and Sanley.E42F. %n addiion*
-hild"en ih $P had heads ha e"e dis#"o#o"ionaely la"e" han e?#e-ed o" hei" ien bi"heih o" abdoinal -i"-ue"en-e* i""es#e-ie o esaional ae. 9he Gu=sha#edH asso-iaion
ih $P seen ih head -i"-ue"en-e alone as no eiden in headabdoinal -i"-ue"en-e
and -e#hali@aion indi-es. %n hese indi-es only hihe" "aio easu"es e"e asso-iaed ihin-"eased "is< o $P. sye"i- "oh* deined as dis#"o#o"ionaely la"e head o abdoinal
-i"-ue"en-e "aioE47F* is a"ibued o he -a#a-iy o he eus o ada# and "edis"ibue is
-a"dia- ou#u in ao" o ial o"ansE4'F $hild"en ih his y#e o asye"i- "oh in a #"eious sudy had a hihe" "is< o subo#ial neu"ooo" deelo#en a >K15 eeF and
sho"=e" eo"y dii-ulies a nine yea"s o aeE50F. sye"i- "oh deined by he
-e#hali@aion inde? as "e#o"ed o be a useul #"edi-o" o neu"odeelo#enal ou-oe in
-hild"en ih in"aue"ine "oh "es"i-ionE51* 52F* and also shon o be #ossibly asso-iaedih $PE53F. sye"y in "aios o "oh easu"eens inolin head -i"-ue"en-es*
hoee"* -ould also be a"ibued o ohe" -auses su-h as hyd"o-e#haly. Jeal "oh i#ai"en
is os li
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easu"eens and $P* by ad!usin o" esaional ae* i esaional ae and $P sha"ed a
-oon -ause.
Ou" sudy as "es"i-ed o -hild"en ho e"e bo"n and hen su"ied and did no ei"ae "o&ena"< #"io" o he ae o 1 yea"; &anish ei"aion "aes a"e lo and unli
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PLoS One. 2012; 7(3): e3077'.
Published online 2012 Ma" 6. doi: 10.1371!ou"nal.#one.003077'
PM$%&: PM$32>5'00
A!tistic Disorder in Patients with +illia%s0Be!ren Syndro%e1 A Reconsideration of the
+illia%s0Be!ren Syndro%e Phenotype
Sylie 9o"d!an*1*2*+ eo"e M. nde"son*3 Mi-hel /obol*1 nni-< 9ouain*4 Pie""e Sa"da*5 Mi-hUle $a"lie" *6 Pas-ale Sauie"=Vebe" *7 $la"isse /auann*3 &aid $ohen*' $Wline Laneau?*>
nne=$laude 9abe*> and lain Ve"loes>
hiios M. $. S
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9he "esuls indi-ae ha -oo"bid auis and /S is o"e "euen han e?#e-ed and sues
ha he -oon /S deleion -an "esul in a -oninuu o so-ial -ouni-aion i#ai"en*
"anin "o e?-essie al61 and 1>62* is a "a"e enei-
deelo#enal diso"de" ih a "e#o"ed #"ealen-e o beeen 17*500 and 125*000 lie bi"hsE1F K E4F. Mos -ases a"e s#o"adi- and unil e"y "e-enly he synd"oe oen en undianosed
unil adulhood. /S synd"oe is -aused by an hei@yous deleion o -oniuous enes on he
lon a" o -h"oosoe 7 a 711.23 houh o a"ise "o "e-obinaion beeen isalined
"e#ea seuen-es lan
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daily liin and oo" s
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-onsisen and "io"ous a##li-aion o auis dianosi- -"ie"ia based on he -lini-al !uden
and he adinis"aion o he &%=A -o#eed by he &OS E52F.
&eo"a#hi-s* auisi- behaio"al doains and ain #hysi-al eau"es o he #aiens a"e #"esened in 9able 1. "ien ino"ed -onsen as obained "o #a"ens ae" e?#lainin he
sudy and is #"o-edu"e o he #a"ens and hei" -hild"en. 9he #"oo-ol as a##"oed byinsiuional ehi-s "eie boa"ds.
9able 1
De%ographics, a!tistic behaioral do%ains and %ain physical feat!res of the patients'
Behaioral and Cognitie Assess%ents
$oniie un-ionin as assessed by o #sy-holoiss usin he ae=a##"o#"iae e-hsle"inellien-e s-ales (PPS%=A* %S$* %S=%%%) and he Xauan X=/$ E53F. ll nine #aiens
e"e see"ely -oniiely i#ai"ed (ean ull=s-ale %YS&: 42.42.1* ih a "ane o 40K47).
&ianosi- and behaio"al assessens e"e #e"o"ed usin he &%=A s-ale and he &OSs-ale. 9he &%=A is an e?ensie sei=s"u-u"ed #a"enal ine"ie and he &OS allos a
di"e- obse"aion o he #aien h"ouh a sanda"di@ed sei=s"u-u"ed siuaion o aes. 9he
&%=A and he &OS e"e adinise"ed by o "ained #sy-hia"iss -e"iied in hese s-alesadinis"aion. 9he &%=A and &OS s-ales assessed he h"ee a!o" doains o auisi-i#ai"ens: "e-i#"o-al so-ial ine"a-ions* e"bal and non=e"bal -ouni-aion* se"eoy#ed
behaio"s and "es"i-ed ine"ess. e used he &OS Module 1 ha is adinise"ed o
indiiduals ih no lanuae o" beinnin lanuae s4B obse"ed beeen o e?#e" "ae"s. 9he &%=A s-ale is alidaed
o assess he behaio" ha as os abno"al du"in he 4 o 5 yea"s=old #e"iod and he -u""en behaio". 9he &%=A alo"ih is based on he 4K5 yea"s=old #e"iod o lie* bu e "e#o"ed also
syseai-ally he "ains o" he -u""en #e"iod o he subse o &%=A ies in-luded in he
&%=A alo"ih in o"de" o see he eoluion beeen hese o #e"iods o lie (see 9able 2). %naddiion* he &%=A and he &OS e"e -oded inde#endenly bu he "ains "e#o"ed in 9able 2
o" he -u""en #e"iod oo< ino -onside"aion he di"e- obse"aion o he #aien hen a
-o#een-y as obse"ed by he "ained #sy-hia"is du"in he &OS adinis"aion. 9hisa##"oa-h* -obinin ino"aion "o uli#le sou"-es based on he -lini-al !uden and he
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Risi1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t001/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t001/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Anastasi1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Risi1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t001/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t001/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Anastasi1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/table/pone-0030778-t002/
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adinis"aion o he &%=A -o#leed by he &OS* as unde"a
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and beo"e h"ee yea"s old hey e"e all auisi- a--o"din o Xanne" -"ie"ia based on a
#"oessional !uden.
9he ie ales ih /S shoed an absen-e o e"bal lanuae he"eas o ou o he ou"i"ls e"e none"bal bu he o ohe" i"ls dis#layed e"bal lanuae and een e?-essie
al
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Behaioral, Cognitie and Physical Phenotypes 6ypical of +BS
senso"y ine"es o" usi- as obse"ed in he nine #aiens o he sudy hi-h is -onsisenih he ood "e-e#iiy o usi- usually ound in indiiduals ih /S and des-"ibed in he
in"odu-ion. Siila"ly* all he #aiens e?-e# one boy shoed also hy#e"a-usis o loud sounds* a
y#i-al eau"e o /S. 9hey -oe"ed hei" ea"s a s-"eas* babies -"yin* sounds o !a-<hae" o" o see"al #eo#le al
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#ain Findings
9he nine indiiduals ih /S asso-iaed ih auisi- diso"de" sudied had see"e i#ai"ensin e"bal -ouni-aion (absen-e o s#o
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uesions ih also ina##"o#"iae iniiaion o -one"saion and se"eoy#ed senen-es E2'F* E61F*
E6>F K E71F. his #oin* i a##ea"s i#o"an o disinuish #"odu-ie s#ee-h hi-h -an be
#"ese"ed in /S o e"bal -ouni-aion hi-h is i#ai"ed oen in indiiduals ih /S. %is noeo"hy ha hese s#ee-h #a"i-ula"iies -an also be obse"ed in indiiduals ih auisi-
diso"de". Soe -lini-ians een a"ue ha a dianosis o hih un-ionin auis -ould be a##lied
o -hild"en ih seani-=#"aai- diso"de" E72F* E73F.
%#ai"ens in he so-ial ine"a-ion doain* inolin in #a"i-ula" #oo" so-ial "elaionshi#s*hae been also des-"ibed in /S E44F* . 9hus* &aies e al. E70F "e#o"ed ha >6B o #a"ens
and -a"eie"s o aduls ih /S des-"ibed #"obles ih esablishin "iendshi#s* and a la"e
#"o#o"ion also des-"ibed ohe" so-ial dii-ulies* su-h as disinhibiion and so-ial isolaion.
Jinally* Las and /isho#Zs sudy E61F suess ha he h"ee auisi- behaio"al doains a"e
i#ai"ed in /S (so-ial ine"a-ion* -ouni-aion* se"eoy#ies). %ndeed* /S #aiens -an
e?hibi so-ial -ouni-aion i#ai"ens #"eiously des-"ibed* bu also "es"i-ed and
se"eoy#ed behaio"s o" ine"ess* su-h as hy#e"sensiiiy o sounds* #i- #aiens dis#layed -u""enly he auisi- ihd"aal des-"ibed by Xanne"
E77F as a so-ial ihd"aal and -oonly obse"ed in indiiduals ih auisi- diso"de". 9hey
shoed a-ually* a--o"din o he di"e- obse"aion o he #aien o" he #a"enal ine"ie* aso-ial oiaion ih a desi"e and eae"ness o ine"a- ih ohe"s* hi-h as no he -ase a
4K5 yea"s old. 9his is in line ih he y#i-al eau"es o indiiduals ih /S ho a"e usually
des-"ibed as hihly so-iable* e#ahi-* "iendly and a" E27F* E44F* E4'F* E7'F K E'2F. So-ial
oiaion assessen ih be ino"aie and useul o disinuish die"en suby#es oauisi- diso"de". % is noeo"hy ha so-ial oiaion has been ound o be a e"y i#o"an
uaniaie "ai "elaed o auis E'3F. Sun e al.. Zs sudy E'3F suess ha so-ial oiaion
has a enei- basis and ay be os #"oisin o" uu"e ene a##in and o" e?endin #edi"ees by #henoy#in "elaies. Siila"ly* he aoidan-e o di"e- a@e -ona-* a
-ha"a-e"isi- auisi- behaio"* as no obse"ed a he -u""en #e"iod o" h"ee #aiens*
suesin ha his behaio" ih be i#o"an o disinuish die"en suby#es o auisi-diso"de".
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Udwin1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Udwin1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Stojanovik1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Rapin1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-ListerBrook1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Shield1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Davies1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasmanBP1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasmanBP1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Jones2https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Kanner1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sarimski1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sarimski1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Gosch1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Gosch1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman3https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman3https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-VanLieshout1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sung1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sung1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Udwin1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Stojanovik1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Rapin1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-ListerBrook1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Shield1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Davies1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasmanBP1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Laws1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Jones2https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Kanner1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sarimski1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Gosch1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-KleinTasman3https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-VanLieshout1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sung1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295800/#pone.0030778-Sung1
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%n -on"as* all > #aiens o ou" sudy sill shoed* a he #"esen #e"iod as ell du"in he 4K5
yea"s ae #e"iod* s#innin behaio"s o" inense ine"es o" s#innin ob!e-s hi-h a"e
-ha"a-e"isi- auisi- se"eoy#ed behaio"s bu a"e no ound in all indiiduals ih auisi-diso"de".
Jinally* as shon in 9able 2* a deelo#enal "a!e-o"y o so-ial -ouni-aion i#ai"ensa##ea"s in he /S #aiens o ou" sudy inolin i#"oeen ih ie* obse"ed es#e-ially
ae" 6 yea"s=old* in so-ial ine"a-ion and none"bal -ouni-aion o" all he eih #aiensaboe 6 yea"s old* and i#"oeen in e"bal -ouni-aion o" o #aiens a 3.5 yea"s=old. %
is noeo"hy ha so-ial ine"a-ion has been "e#o"ed o dis-"iinae -hild"en ih auis and
-hild"en ih /S E45F. 9his suess* in line ih Xa"ilo=Sih ih "ea"d odeelo#enal diso"de"s E'4F* ha i ih be i#o"an o hae a deelo#enal a##"oa-h
a
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Concl!sions
Ou" "esuls sues ha -oo"bid auis and /S o--u" o"e "euenly han e?#e-ed and ha/S should be e?-luded hen -onside"in #ossible sinle ene -ausaion in indiiduals ih
auis. n unde"esiaion o he -o=o--u""en-e o hese o diso"de"s ih -on"ibue o
ainain he -oon ie ha /S "e#"esens he o##osie behaio"al #henoy#e o auis.9his -ould* in u"n* -on"ibue o he unde"="e-oniion o /S and he unde"esiaion o is
#"ealen-e. Siila"ly* his -ould -on"ibue o he unde"esiaion o auis in /S.
Sea"-h o" behaio"s "elaed o auis s#e-"u diso"de"s in #aiens ih /S ay hae
i#o"an -lini-al i#li-aions -onside"in ha soe -hild"en ih /S -ould benei "ohe"a#ies oe"ed o -hild"en ih auisi- diso"de". %ne"sely* as unde"lined by Miles and illan
E>4F* i is i#o"an o" #"a-iione"s o"K271. EPubMedF4. illias ,* /a""a=/oyes /* Loe ,. Su#"a alula" ao"i- senosis. $i"-ulaion.
1>61;24:1311K131'. EPubMedF
5. /aue" * &uly J* /ale" &* Aieel M* 9u>3;5:11K15. EPubMedF7. J"an-
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-h"oosoe 711.23 i#li-aed in illias synd"oe. enoe Aes. 2002;12:3K15. EPM$ "ee
a"i-leF EPubMedF
>. Maano LJ* /ayWs M* Jlo"es A* PW"e@=,u"ado L. 9oa"ds a -o#lee "ans-"i#ion a# o heillias=/eu"en deleion "eion. u" , u ene. 2001;>(Su##l.):244.
10. Peo#les A* J"an5;4:1677K
167>. EPubMedF
14. 9assabeh!i M* Me-ale X* u"s ,* sh-"o S* Xiely $* e al. n elasin ene uaion
#"odu-in abno"al "o#oelasin and abno"al elasi- ib"es in a #aien ih auosoaldoinan -uis la?a. u ol ene. 1>>';7:1021K102'. EPubMedF
15. delann L* P"osni@ * Pa"do S* /ha ,* $ohen I* e al. n ay#i-al deleion o heillias=/eu"en Synd"oe ine"al i#li-aes enes asso-iaed ih dee-ie isuos#aial
#"o-essin and auis. , Med ene. 2007;44(2):136K143. EPM$ "ee a"i-leF EPubMedF
16. /ayWs M* Maano LJ* Aie"a I* Jlo"es A* PW"e@ ,u"ado L. Muaional e-haniss oillias=/eu"en synd"oes deleions. , u ene. 2003;73:131K151. EPM$ "ee a"i-leF
EPubMedF
17. J"anisK6'5. EPubMedF
1>. 9assebeh!i M* Me-ale X* Xa"ilo=Sih * $a"ee M,* "an ,* e al. illias
Synd"oe: use o -h"oosoal i-"odeleions as a ool o disse- -oniie and #hysi-al #henoy#es. , u ene. 1>>>;64:11'K125. EPM$ "ee a"i-leF EPubMedF
20. alia"di $* /onalia M$* Seli-o"ni * /o"ai A* io"da A. nusual -oniie and
behaiou"al #"oile in a illias synd"oe #aien ih ay#i-al 711.23 deleion. , Med ene.
2003;40(7):526K530. EPM$ "ee a"i-leF EPubMedF21. i"oa * Masuo
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24. 9assabeh!i M* aond P* Xa"ilo=Sih * 9ho#son P* 9ho"ei"sson SS* e al.
9J2%A&1 in -"anioa-ial deelo#en o huans and i-e. S-ien-e. 2005;310(5751):11'4K
11'7. EPubMedF25. ,ones XL* Sih &. 9he illias elin a-ies synd"oe. ne #e"s#e-ie. , Pedia".
1>75;'6:71'K723. EPubMedF
26. Mo""is $* &esey S* Leona"d $O* &ils $* /la-7;6:26K31. EPubMedF2'. din O* Tule . -oniie and behaiou"al #henoy#e in illias synd"oe. , $lin ?#
Ieu"o#sy-hol. 1>>1;13:232K244. EPubMedF
2>. /ellui * Li-henbe"e" L* ,ones * Lai * S eo"e M. 9he neu"o-oniie #"oile o
illias synd"oe: a -o#le? #ae"n o s"enhs and ea