Laboratory Aspects of Growth and Developmental Delay in Children

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PIT-KONKER PATKLIN, 1

Denpasar 021118

LABORATORY ASPECTS
OF GROWTH AND DEVELOPMENTAL DELAY
IN CHILDREN

Uleng Bahrun

Department of Clinical Pathology, Faculty of Medicine,


Hasanuddin University, Makassar, Indonesia

Perhimpunan Dokter Spesialis Patologi Klinik


dan Kedokteran Laboratorium Indonesia
TERMINOLOGY
Growth…Increasing of
number, size and
dimension in the cell and
organ level, quantitatively
measurable

Development… Increasing of
ability (skill) structure and
function of body become
complex as a result of maturity
process
PIT-KONKER PATKLIN,
TERMINOLOGY Denpasar 021118
3

STUNTING…the impaired growth of


children whose height for age is below
minus two or minus three standard
deviations (moderate and severe stunting)
from the median of the WHO Child Growth
Standards

DEVELOPMENTAL DELAY…
deviation of development from the
normative milestones in the areas of
cognitive, language, social, emotional
and motor functioning
(Batshaw, 2002)
TERMINOLOGY PIT-KONKER PATKLIN,
Denpasar 021118
4
PIT-KONKER PATKLIN,
THE FACTS Denpasar 021118
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MaCPLAM 4, 3 Meil 2018

THE FACTS 6

DEVELOPMENTAL DELAY

1-3% anak <5 tahun

Riskesdas 2010… 35,7%

DKI Jakarta …11.9%


CAUSES AND CONSEQUENCES PIT-KONKER PATKLIN,
Denpasar 021118
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INTERNAL & EKSTERNAL


PREVENTABLE CAUSES AND
CONSEQUENCES PIT-KONKER PATKLIN,
Denpasar 021118
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EVALUATION 9
LABORATORY SCREENING PIT-KONKER PATKLIN, 10
Denpasar 021118

AND INVESTIGATION

GLOBAL DEVELOPMENTAL DELAY


LABORATORY SCREENING PIT-KONKER PATKLIN, 11
Denpasar 021118

AND INVESTIGATION
LABORATORY SCREENING PIT-KONKER PATKLIN, 12
Denpasar 021118

AND INVESTIGATION
LABORATORY SCREENING AND
INVESTIGATION 13
MaCPLAM 4, 3 Meil 2018

GENETIC STUDY

KARYOTYPING
• Process of pairing and ordering all the chromosomes of
organism, thus providing a genome-wide snapshot of an
individual's chromosomes

- Preparing Karyotypes
from Mitotic Cells
- Banding Patterns
- Organizing Chromosomes
in Karyograms for Review
LABORATORY SCREENING AND
INVESTIGATION 14
MaCPLAM 4, 3 Meil 2018

GENETIC STUDY

Comparative Genomic Hybridization Array (array CGH)

technology that allows detection of chromosome imbalances


that are too small to be detected by looking down the
microscope (submicroscopic alteration)

sample: blood, saliva


LABORATORY SCREENING AND
INVESTIGATION 15
MaCPLAM 4, 3 Meil 2018

GENETIC STUDY
Comparative Genomic Hybridization Array (Array CGH
LABORATORY SCREENING AND
INVESTIGATION 16
MaCPLAM 4, 3 Meil 2018

BIOCHEMISTRY

• CK  Boys with Duchenne Muscular Dystrophy  delay in


more than one domain of their development (e.g. language
and motor delay)
• Electrolytes and Urea are first line investigations, and
Calcium measurement can assist in the diagnosis of Velo-
cardio-facial and Williams syndromes
• TFT  part of universal neonatal screening. chromosomal
abnormalities are associated with an increased and ongoing
risk of hypothyroidism
• Lead
• CBC, Feritin  Fe Deficiency
Take Home Message
17
MaCPLAM 4, 3 Meil 2018

 Growth and developmental delay in children 


quite high prevalence, most preventable, serious
consequence
 Establishing the cause of developmental delay is
important  specific diagnosis may assist in
prognosis, counselling parents as to the risk of
other children, and identification of therapeutic and
educational interventions
 Laboratory investigation… based on history &
physical examination  genetic, biochemistry test
MaCPLAM 4, 3 Meil 2018 18

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