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CASE BASED TOPIC

GLOBAL DELAYED DEVELOPM


ENT
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Ext.

2 9
Chief complaint : 10 day PTA
Present illness : 10 day PTA
3-4
ATB :
ceftriaxone iv start 29/5/58- 8/6/58

Past history :

2cm
lymph node biopsy : granulomatous
inflammation with caseation necrosis.
Diagnosis : TB lymph node start antiTB drug : IRZE 4/11/57
U/D: Down syndrome c subclinical
hypothyroid c AR c asthma
: vancomycin

Perinatal and postnatal


history
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26 37
GA 41 wk F/E
3000g
- Apgar 9, 10
- on phototherapy 2
Admit pneumonia
-
4

Family history


Downs syndrome

Nutrition

Vaccination




static

2
7


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Physical examination
GA : A young boy, active
HEENT : Pink conjunctivae, anicteric sclerae, posterior cervical
lymph node both sides 1cm c tender, Pharynx and tonsil not
injected, up slant eyes , low set ear, flat nose and face
Heart : Normal S1,S2 no murmur
Lung: clear
Abdomen: Normoactive BS , soft , not tender,liver and spleen
were impalpable, umbilical hernia
Extremities: no rash , no petechiae, sandal gap , palmar crease
NS: E4V5M6 , alert, pupil 2mm RTLBE Motor grade 5 all, DTR2+
all
Babinskis sign : no response, Clonus sign : negative

Physical examination
Visual and hearing : normal( OAE: pass
BE)
Delayed Speech and language :

Growth
assessment

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Investigation
Work up
: 47,XY-21
1
work up TSH = 7.5 FT4 1,36 T4 16.9
Diag: Subclinical hypothyroid
Tx Eltroxin 3 > Euthyroid
TFT 19 58 TSH 3.45 FT4 1.05 >
Euthyroid
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Development assessment
by DENVER II
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PS : (
)
FM : 180
(
)
L : (
)
GM: (
)
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Development assessment
by DENVER II
1 9
1 11
2 3

GM : 2-3
FM :
L :
PS :
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Development assessment
by DENVER II

PS :

FM : 2

L :

M :
18 months
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Impression
Imp : Global delay development
due to Downs syndrome

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GLOBAL DELAY
DEVELOPMENT
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Normal development
1. Gross motor
2. Fine motor

3. Language and adaptive


4. Personal and social

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18

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20

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Significant Delay
Development

Development ability < - 2 SD of


chronological age
or
DQ < 70

DQ = Developmental age x 100


Chronological age
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Global delay development


Significant delay in 2 or more of
developmental domains

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Mental retardation
A condition of arrested or incomplete
development of the mind, which is especially
characterized by impairment of skills manifested
during the developmental period, which contribute
to the overall level of intelligence, i.e. cognitive,
language, motor, and social abilities
Assessment by IQ test
2 SD < mean or < 70 considered to have
Mental Retardation
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Mental retardation
Severity
Mild MR
Moderate MR
Severe MR
Profound MR

IQ score
50-69
35-49
20-34
Below 20

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Epidermiology
Developmental delay: 10%

Global developmental delay: 1-3% of children


< 5 years
MR: 2-3% of general population 1.14% in
school-age children
Boys:girls 2:1 in mild MR 1.5-1 in severe
Only 40-50 % were detected

Most common cause of GDD/MR is


Chromosome abnormalities
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Delay development
1.
2.

3.

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Development warning
sign
Age

Warning Sign

At any age

Maternal concern
Regression in previously acquired skills

At 10 weeks

Not smiling

At 6 months

Persistent primitive reflexes


Persistent squint
Hand preference
Little interest in people, toys,noise

At 10-12 months

No sitting
No double syllable bubble
No pincer grasp

At 18 months

Not walking independently


Fewer than six words
Persistent mouthing or drooling

At 21/2 years

No two to three word sentences

At 4 years

Unintelligible speech

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Developmental
assessment
1.History

At present development?
When did the problem begin?
Regression?
Past history of illness
Family history

?
y

a
l
De

He
Static
l
?
p?
e
Regression aus
C
Progressive
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Developmental
assessment
2.Physical examination

General examination
Growth assessment
Shape and head circumference
Dysmorphic features
Deformity
Skin lesion
Neurological and neurodevelopment
examination
Hearing and visual evaluation

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Cause of
GDD

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Developmental
assessment

3.Developmental testing
Informal
Formal
DENVER II
DAP
Gesell drawing test
CAT/CLAM(Capute)
Bayley scale of infant development
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DENVER II

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Gesell drawing test

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Developmental
assessment
4. Investigation
Must be : Thyroid function test
May be :
Chromosome study
Blood for TORCH, metabolic
CT, MRI

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Treatment
Early diagnosis, early intervention
Treat treatable cause
Stimulate development
Treat association symptom
Treat abnormal behavioral
Advice parents

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Downs syndrome
Trisomy 21 is the most common genetic
cause of moderate mental retardation.

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Downs syndrome

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Downs syndrome

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Downs syndrome

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THANK YOU FOR


YOUR ATTENTION
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