the cutt seminar

7/23/2019 The Cutt Seminar

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APPROACHTO

DEVELOPM

ENTALDELAY

Azhar Shamasneh & Areej shaar

5th year media! st"dent#ni$ersity % '%rdan



(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



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



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



(N)L#ENCES ON DEVELOPMENT (enetic

Environmental ) family structure" housing"family support

*alnutrition



AREAS O) DEVELOPMENT (ross motor

+ine *otor ,ision

earing .ommunication language&

/ocial ersonal earning disabilities



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



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



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



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



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



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



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



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



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



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



*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



ypotelorism maternal K ?Pheny!6et%n"ria 9effect

9rushfield spots Down syndrome

rominent eyes 9ec'with-Giedemann syndrome

isch nodules neurofibromatosis



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



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



S6in

8ail hypoplasia or dysplasia +4/

+acial port wine hemangioma /turge-

Geber syndrome .afL au lait spots 8eurofibromatosis

4shleaf spots &uberous /clerosis



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



(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



;. 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



THAN= YO#

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