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TRANSCRIPT
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APPROACHTO
DEVELOPM
ENTALDELAY
Azhar Shamasneh & Areej shaar
5th year media! st"dent#ni$ersity % '%rdan
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(NTROD#CT(ON Developmental disability is estimated to
occur in 5-10% of the population Only 30% are identified before school
entrance
Early recognition of children withdevelopmental problems is important sincethey receive better attention than those withdelayed diagnosis and therefore better
outcomes
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DE)(N(T(ON De$e!%*menta! Disa+i!ity,De!ay -DD. is
*resent /hen "nti%na! as*ets % ahi!d0s de$e!%*ment in %ne %r m%re
d%mains gross!fine motor"speech!language" cognition"
social!personal" and activities of dailyliving# are si1niiant!y de!ayed
%m*ared t% the e2*eted !e$e! %r a1e
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O#R RESPONS(3(L(TY $dentify child who does not obviously fall
between normal limits who needs furtherassessment
&o give framewor' for assessment of childwho is functionally younger than his age
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(N)L#ENCES ON DEVELOPMENT (enetic
Environmental ) family structure" housing"family support
*alnutrition
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AREAS O) DEVELOPMENT (ross motor
+ine *otor ,ision
earing .ommunication language&
/ocial ersonal earning disabilities
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MA'OR NORMAL M(LESTONES-AVERA4E A4E.
GrossMotor
Fine motor& vision
Hearing &language
Social
6 weeks Head levelwith body inventralsuspension
Fixes &follows
Stills to sound smiles
3 months Head at90deg inventralsuspension
Holds obe!tpla!ed inhand
"urns tosound at earlevel
#aughs &s$uealsHand regard
6months %o head lag
Sits wsupport 'pon forearmswhen prone
(ea!h w
palmar grasp "ransfersbetweenhands
)abbles *orks for toy
+ay ,ngerfeed
9 months -rawlsSits steadily &pivots
.in!er grasp/index ,ngerapproa!h/
bangs !ubes
syllablebabble1istra!tion
hearing testpossible
*aves bye2byendi!ates
wants
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MA'OR NORMAL M(LESTONES-.
Grossmotor
Fine motor& vision
Hearing &language
Social
4 months .ull to stand/!ruise/ standalone *alkssome stepsalone
.uts blo!k in!up-asting
42 words mitatesa!tivities/plays ball/obe!tpermanen!e
45 months *alks well &runs
"ower of 2!ubesS!ribbles
624 words 'ses spoon/helps inhouse/symboli! play
months 7i!ks ball-limbs stairs ft 8step
"ower of 62!ubes-ir!ulars!ribble
:oins 23words;26 bodypartsdenti,es pi!tures
(emoves agarment
36 months "hrows
overarm/stairs 4
"ower of 6
!ubes/ 3 bri!kbridge/ !opies
Senten!es/
names pi!tures
=ats w fork &
spoon .utson !lothing
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DEVELOPMENTAL ASSESSMENT
t% dia1n%se a hi!d /h% s"er de$e!%*menta!dis%rder y%" start /ith s"r$e!i!ane andsreenin1 then y%" ta6e hist%ry and *hysia!e2aminati%n and the "rther in$esti1ati%ns
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DEVELOPMENTAL ASSESSMENT
De$e!%*menta! s"r$ei!!anethe identification of ris' factors fordevelopmental delay that
/hould be performed for all children at anyclinic visit
De$e!%*menta! sreenin1is identifying children who may need more
comprehensive evaluation2
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H(STORY
-a detailed history from conception to thepresent 2
- nowing the appropriate milestones - 4ny signs of developmental regression
should be regarded as a medical emergency
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1# re-natal history
a2 .omplicationsb2 renatal diagnoses made eg2 Down /yndrome#
c2 $nfections eg2 &O.#
d2 E6posures eg2 +etal 4lcohol /yndrome#
7# 8atal-Obstetrical historya2 .omplications
b2 4(4 scores
c2 $nfections eg2 (roup 9 /trep#
d2 /ei:urese2 earing test performed
f2 8ewborn screening performed
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3# ast medical history and medications
a2 Ototo6ic antibiotics eg2 (entamicin
b2 +re;uent ear infections may lead to effusions affecting
hearing<# 9ehavior since birth
a2 9ehavioral disturbances ) aggression" self in=ury" defiance"inattention" an6iety"
depression" sleep disturbances" stereotypic behaviors" poor
social s'ills"hyperactivity" difficult temperaments
5# +amily history
a2 elatives with developmental delay" genetic abnormalities"syndromes
b2 .onsanguinity
># /ocial istory
a2 Evidence of neglect or abuse which may have a negativeinfluence on
development2
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b2 rimary languages2 E/ children may have relativedelay in English language ac;uisition2
c2 $n children with a previously identified delay it isimportant to assess the resources already accessed
to support the family such as personal teachers inthe educational system" O&!&? Occupational!hysical &herapyA for speech andlanguage therapy "etc 2
&he B$nfant development programC is a regionalresource supplying support to children until age 32&he B4t homeC program is a federal incentive toprovide financial support and respite care tofamilies with an affected child 2
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PHYS(CAL E7AM(NAT(ON
4 thorough physical e6amination is importantin the assessment of a developmentallydelayed child2
.haracteristic findings on physical e6am mayprovide clues as to the cause of thedevelopmental delay2
/ome clinical signs and their corresponding
clinical significance are listed below
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4r%/th Parameters8
*icrocephaly eg in ettFs Disorder
*acrocephaly eg in hydrocephalus /hort stature &urner syndrome" Gilliams syndrome
Obesity rader-Gilli syndrome" 9ec'with-Giedemann syndrome
Head and Ne68
+lat occiput Down syndrome" Hellweger syndrome
rominent occiput trisomy 1I
.raniosynostosis .rou:on syndrome" feiffer syndrome
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*idface hypoplasia +etal 4lcohol /yndrome +4/#" Downsyndrome
rominent nose and chin +ragile J syndrome
ound facies rader-Gilli syndrome
&riangular facies &urner syndrome ypertelorism +etal hydantoin syndrome
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ypotelorism maternal K ?Pheny!6et%n"ria 9effect
9rushfield spots Down syndrome
rominent eyes 9ec'with-Giedemann syndrome
isch nodules neurofibromatosis
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arge pinna +ragile J syndrome
*alformed pinna &reacher .ollins syndrome" .4(E association
9road nasal bridge +ragile J syndrome ow nasal bridge Down syndrome
ong philtrum +4/- fetal alcahol syndrome
.left lip and palate may either be isolated or part of a syndrome
*icrognathia obin se;uence
*acroglossia 9ec'with-Giedemann syndrome
4bnormal hair whorls Down syndrome
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Gebbed nec' &urner
syndrome
4enit%"rinary
*acroorchidism +ragile Jsyndrome
ypogonadism rader-Gilli syndrome
E2tremities
/mall hands rader-Gillisyndrome
.linodactyly trisomiesincluding Down syndrome
&ransverse palmer creaseDown syndrome
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S6in
8ail hypoplasia or dysplasia +4/
+acial port wine hemangioma /turge-
Geber syndrome .afL au lait spots 8eurofibromatosis
4shleaf spots &uberous /clerosis
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Ne"r%!%1ia! E2am
.ranial nerves
/pecific vision tests
o red refle6" normal fundi" response to visual stimuli" field ofvision
/pecific auditory tests
o response to auditory stimuli
eceptive or e6pressive language delay
4bnormal speech eg2 articulation# ersistently present 9abins'i response older than 7 years of
age#
yper- or ypotonia
/ensory
*otor strength (ait
Deep tendon refle6es
rimitive refle6es ) *oro" (allant
ostural refle6es ) propping response
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(NVEST(4AT(ONS
:. 4enetis8
a2 aryotyping to assess for chromosomal abnormalities
b2 +$/ analysis to assess for microdeletions
c2 *any of these investigations will be performed through
specialist referral2 *edical (enetics consultation should be done at this time2
. End%rin%!%1y8
a2 &/" free &<
b2 eferral to endocrinology should be considered22
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;. Meta+%!i8
a2 *etabolic screening ) glucose" electrolytes" serumlactate" ammonia" liver
function tests" pyruvate" albumin" triglycerides" uric acid"serum ;uantitative
amino acids" urine organic acids" acylcarnitines" creatinephospho'inase if
suspecting myopathy# b2 eferral to metabolic diseases should be considered2
<. Ne"r%!%1y8 a2 EE( b2 ead .&
c2 eferral to 8eurology if any of these tests are considered
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THAN= YO#