Minicase

A 18 months Boy with Down

Syndrome & Global
Developmental Delay

By: Fireka Imsa S.J

Supervisor: Ariani, MD Paed (C)

INTRODUCTION
 GLOBAL DEVELOPMENTAL DELAY

Condition with lower intellectual functioning than what is perceived

as ‘normal’. It is usually accompanied by having significant
limitations in communication.

It is said to affect about 1-3% of the population.

(Glasson et al, 2013; Asim et al , 2015;

Ferreira-Vasquez, 2015)
 DOWN SYNDROME

Commonest disorders with huge medical and social cost

Occurs in people of all races and economic levels.

Approximately one in every 700 babies in the United States

is born with Down syndrome – about 6,000 each year

In developed countries, the average life span for DS

population is 55 years
(Glasson et al, 2013; Asim et al , 2015;
Ferreira-Vasquez, 2015)
CASE REPORT
 IDENTITY

• Name : DG
• Sex : Male
• Age : 1 year 6 months old
• Body Weight : 7,2 kgs
• Admission : November 8th, 2018
• Address : Sumbersari
• Medical record : 11367xxx
 HISTORY TAKING

Chief complain: Productive cough

• Patient suffered from productive cough since 7 days before
admission and getting worse since 1 day before admission. Patient
also have fever since 7 days before admission. Patient suffered from
decrease of appetite since 6 days before admission.
• Mother gave the patient paracetamol but fever didn’t relief. Then
mother took the patient to the Bunga Melati clinic and doctor gave
her some drug that mother didn’t know. Because there was no
improvement, patient was taken to the Hermina hospital for
admission.
• The patient development was delayed. It was appear since patient
still 1 months old. Until now patient development is different with the
other child in the same age
 HISTORY TAKING
Past Medical History:
• Patient had been admitted for 5 times. Two times of admission
because of diarrhea, and three times because of pneumonia.
• Since birth, patient was suspected with down syndrome by clinical
appearance and was diagnosed with down syndrome since 2017 by
genetical examination.
• Patient was also diagnosed with Atrial Septal Defect from
Echocardiography on April, 2018.
• Since birth, patient was diagnosed with Congenital Hypothyroid and
had been taken levothyroxine for 16 months (was stopped by doctor
since 2 months ago)
 HISTORY TAKING

History of Therapy (Hermina Hospital)

• O2 nasal canule 0,5 lpm
• IVFD C1:4 360cc/24hours
• IV Ceftriaxone 200mg twice a day
• IV Paracetamol 70mg fourth a day if needed
• Nebulisation with Ventolin and Normal saline twice a day

Patient had consumed levothiroxin since born until 16 months

old and stopped by doctor because the normal level of FT4 and
TSH examination.
 HISTORY TAKING

Family History:
There’s no history of Heart disease. Other congenital anomaly in
family (-), down syndrome (-).

Nutritional History:
Breastmilk was given from birth until 10 months old then formula
milk until now (125cc per 3 hours).
Interrupted drink (+) with duration 1-2 hours to finish drinking.
Porridge at 6 months- 12 months old. Family menu at 1 year old
until now with 3 meal times a day (1/2-1 portion) with composition
rice, meat, fish, egg, vegetables, and fruit.
 HISTORY TAKING

Pregnancy History:
Mother takes antenatal care every month in midwife and often in
obstetrician. There wasn’t any complaint.
Hypertension (-), hyperglicemia (-), vaginal discharge (-) vaginal
bleeding (-), fever (-), rash (-), smoking (-). Mother has history of
slipped 3 times during pregnancy.

Birth History
Patient was born by sectio caesaria in hospital at term gestational age
with indication was with 17 months from the previous sectio history .
Patient was directly crying without any sign of prolonged cyanosis or
icteric. Birth body weight was 2600 grams.
 HISTORY TAKING
Immunization History
Basic immunization was complete.

Growth and Development History

• Can loudly crying
• Rolling in bed by his self (+) 12 months old
• Sit by his self (-)
• Repeating any sound (+) 12 months old
• Mumbling (+) and Speakss “Papapa” or “mamama” not
specific (+) 18 months old
• Eat by his self (-) just can hold a biscuit
• Clapping his hand ( -)
• Reach some thing (+)
• Take some bead (-)
 HISTORY TAKING

Economic and Social History:

I: Female/3 years old/healthy
II: Patient
Father/38 years old/ senior high school/ employee
Mother/30 years old/ senior high school/ enterpreneur
There was no contact with cigarette at home. Family don’t have pet or
cattle
 Physical Examination

General condition: compos mentis, minimal shortness of breath

Vital Sign: HR 126x/m RR 35x/m
SatO2 98% Tax 37 C
Head/neck: anemic (-/-) sclera icteric (-) cyanosis (-) Lymph
node enlargement (-) mongoloid face (+) Epichantal fold (+)
low set ear (+)
Thorax: Symmetrical chest expansion, subcostal retraction (-),
Cor/ S1 single S2 normal murmur (-) gallop (-)
Pulmo: breath sound ves/ves Rh -/- Wh -/-
Abdomen: Soefl bowel sound (+) liver and spleen not palpable,
ascites (-)
Extremity: warm, CRT<2 second, edema -/-, simian crease (-)
 Anthropometry status

• Body Weight : 7,8 kgs (<P5)

• Length : 73 cms (P5)~11 months old
• Head Circumference : 44 cms (P10-P25)
• Arm Circumference : 12 cm (-3SD s/d -2SD)
• Weight/Length : P5-P10
• Conclusion: Undernourisment
 DL August 13th, 2018
Hb 12,7 g/dl
Hematocryte 36,4%
Leucocyte 7490

Laboratory Thrombocyte
Diff count
317.000

Examination Eosinophil
Basophil
2%
0,5%
Neutrophil 46%
Limphocyte 43%
Monocyte 8,5%

Blood Glucose 120 <200 mg/dl

Free T4 1,01 0,8-1,8ngdl
TSH 28,15 0,8-8,2u/ml
Procalcitonin 0,21ng/ml

Chromosome Analysis
47 XY +21 (trisomy 21)
 Planning Diagnosis
Examination Tools
KPSP Altered
No in 9
Gross Motor Aspect
Fine Motor Aspect
Speak and language Aspect
Social Aspect
Denver Suspect 
Gross Motor Aspect
Fine Motor Aspect
Language Aspect
Social Personality Aspect
Hearing Test No hearing disturbance
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 ASSESSMENT

1. Global Developmental Delay

2. Down Syndrome
3. Moderate ASD Secundum + Minimal Pericardial Effusion
4. Pneumonia
5. Heart Failure Ross Class 1
6. Congenital Hypothyroid
 Planning Therapy

1. O2 Nasal Canule 1 lpm

2. IV Ceftriaxon 400mg twice a day (100mg/kg/day) D-8
3. Peroral
Digoxin 0,036mg twice a day • Consult to Medical
Furosemide 6,5 mg twice a day Rehabilitation for Physiotherapy
KSR 125mg twice a day • Development intervension
Captopril 3,75mg twice a day
Ambroxol 2cc three times a day
4. Ventolin Nebulisation per 8 hours
5. Diet: Formula Milk 100cc per 3 hours
Porridge ½ portion three times a day
 Planning Monitoring

• Vital sign
• Subyektif
• Body weight
• Intake
• Growth and development Evaluation in outpatient clinic
Discussion
 Global Developmental Delay
Significant delay in two or more developmental domains: gross and
fine motor; speech and language; cognition; personal and social
development; or activities of daily living

Mcdonald et al, 2008

• The most common causes of GDD are chromosomal and/or genetic
abnormalities such as Down's Syndrome and Fragile X Syndrome or
abnormalities with the structure or development of the brain or spinal
cord such as Cerebral Palsy or Spina Bifida.
• Other causes can include prematurity or infections, such as
Congenital Rubella or Meningitis.

McDonald e al, 2008

 Down Syndrome
occurs when an individual has a full or partial extra copy of
chromosome 21

TRISOMY 21
(NONDISJUNCTION)
• 95% cases
• Caused by an error in cell
division at conception (a
pair of 21st chromosomes
in either the sperm or the
egg fails to separate)
• The extra chromosome is
replicated in every cell of
the body  any clinical
manifestation
MOSAICISM TRANSLOCATION
• 1% cases minimal • 4% cases
characteristic • Total number of
• Mixture of two types of chromosomes in the cells
cells, some containing the remains 46
usual 46 chromosomes and • An additional full or partial
some containing 47. Those copy of chromosome 21
cells with 47 chromosomes attaches to another
contain an extra chromosome, usually
chromosome 21. chromosome 14.

National Down Syndrome Society

 25% familial herediter
Genetic (translocation)

Increase of risk with mother

>30 y.o.
A 35 y.o 1:350 chance of
Etiology Mother Age conceiving a child with Down
syndrome
1 in 100 by age 40.
1:30 by age 45.

Radiation
Infection Not Confirmed
Autoimmune
Asim et al , 2015
AAP, 2011
 Intellectual
Disability

Learning and
Memory Disorder

Congenital heart
AVSD
diseases(CHD)
Leading cause of
Alzheimer’s
diseases

Leukemia/cancers AML / ALL

Hirschprung
disease(HD).

(Asim et al , 2015)
 Intelectual
Disability • Every level
• Incidence DS with CHD development need 2-3
>50% (CAVSD) • The degree of longer times to reach
• >>> VSD (33%)  this cognitive impairment than normal child
patient have ASD is variable • Down Syndrome
• mild (IQ of 50 –70), Development
moderate (IQ of 35– Milestone
50), severe (IQ of 20 – Global
CHD 35) Developmental
Delay
 GLOBAL DEVELOPMENTAL DELAY
• Neuro-anatomical & physiological changes
Motor Skill  Hypotonia  Difficulty in primitive bearing
on postural control and muscle synergy

• Alteration of processing information 

Cognitive alterations in attention, memory, language
acquisition and other development skills

• Depend on Stimulation in Environment in

Personal social which the children are inserted,

• Alterations in semantic, phonological,

Language delay syntactic and pragmatic aspects

Ferreira-Vasquez, 2015
sit alone (-)

Patient (18 months old)

crawls (+)
stand (-)
walk (-)
language (-)
Responsive
smile (-)
Finger feed
(+)
drink from
cup (-)
use spoon (-)
bowel control
(-)
Dresses self
(-)
 MANAGEMENT
Quality educational programs, a stimulating home environment, good health
care and positive support from family, friends and the community enable
people with Down syndrome to lead fulfilling and productive lives.
(NDSS, 2018)

• Clinical geneticist - Referral to a genetics counseling program is highly desirable

• Developmental pediatrician
• Cardiologist - Early cardiologic evaluation
• Pediatric pneumonologist-Recurrent respiratory tract infections are common in
patients with DS
• Ophthalmologist
• Neurologist/Neurosurgeon – As many as 10% of patients with DS have epilepsy
• Orthopedic specialist
• Child psychiatrist - A child psychiatrist should lead liaison interventions, family
therapies, and psychometric evaluations
• Physical and occupational therapist
• Speech-language pathologist
• Audiologist Asim et al , 2015
THANK YOU