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Child Development

By Chalachew Adugna
( Assistant professor of pediatrics and child health
nursing)

November , 20211
Presentation outline
• Overview about child development

• Developmental delay

• Down syndrome

2
Introduction
• At 3-year-old boy is referred to you because of speech delay.
When you meet with his mother, you learn that all of his
milestones were late – he sat at 10 months, walked at 22 months
and is currently using only a few single words. In the course of
your discussion, the mother mentions that she may be pregnant.

• Based on the above case

1. What do you think about the case ?

2. What you will do ?


3
Introduction
• What is the difference between growth and
development ?

• Which is one is qualitative and quantitative ?

• How do you assess the growth and development


of a child ?

4
Child Development

• Growth: Only refers to the child getting bigger in size

• Child development: Refers to how a child becomes able

to do more complex things as they get older

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Child Development …..

• Figure: Continuum and hierarchy of natural systems in the biopsychosocial model


• (From Engel GL: The clinical application of the biopsychosocial model, Am J Psychiatry
137:535–544, 1980.) 6
The Domains of Development
• Gross motor

• Fine motor

• Social

• Emotional

• Language

• Cognition
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Developmental Milestones

8
Developmental milestone

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•Principles of development

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Principle-1: Development
involves change

Major
categories
of change

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Principle-2: Early development is more
critical than later development
• Conditions affecting early foundations
• Favorable interpersonal relationship
• Emotional state
• Child-training methods
• Early role playing
• Childhood family structure
• Environmental stimulation
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Principle-3: Development is the
product of maturation and learning
• Maturation

• Learning

• Development

13
Principle-4: The development pattern is predictable

• Cephalocaudal law: Development spreads over the body from head to foot

• Proximodistal law: From the central axis of the body toward the
extremities

• Practical significance of predicting development


• Mature size

• Educational planning

• Preparation for next stage

• Vocational planning

• Adoption

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Principle-5: The developmental pattern
has predictable characteristics
Characteristics

Similarity in developmental patterns

Development proceeds from general to specific


responses

Development is continuous

Different areas develop at different rates

There is correlation in development


15
Principle-6: There are
individual differences in
development
• Different expectations
• Basis of individuality
• Child-rearing must be individualized
• Prediction is difficult

16
Principles ……
• Principle-7: There are periods in the development
pattern

• Principle-8: There are social expectations for every


developmental period

• Principle-9: Every area of development has hazards

• Principle-10: Happiness varies at different periods in


development
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•Developmental delay

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Epidemiology
• Developmental delay is common in children
• Occurs in 2% to 3% of all children

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Developmental delay
• Developmental Delay: is when a child does not reach their
developmental milestones at the expected times

• Developmental delay occurs when a child does not achieve


developmental milestones in comparison to peers of the same
age range

• It is an ongoing major or minor delay in the process of


development

• Delay can occur in one or many areas—for example, gross or


fine motor, language, social, or thinking skills 20
Developmental ….
Developmental delay is a significant delay (more than two standard
deviations below the mean) in one or more of the following
developmental domains:
 Gross motor

 Vision & Fine motor

 Hearing, Speech & Language

 Social, Emotional & Behavioral

Developmental delay is a descriptive term used for children whose


difficulties are apparent earlier in childhood where a cause is not yet
established

It does not imply a particular organic or syndromic cause 21


Types of developmental delay

Global Vs Specific

• Global Developmental Delay

• Delay in two or more domains (often delayed in all domains)

• Specific Developmental delay

• Delay in a single domain (e.g. Motor or Speech & Language)

Transient Vs Persistent

• Transient: Some extremely premature babies

• Physical illness and prolonged hospitalization, immaturity, family stress or lack of

opportunities to learn

• Persistent: Problems in one or more of the following areas: (understanding and


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learning, moving, communication, hearing, seeing)
Developmental “Red flags”
• No visual following by 8 weeks and poor eye contact

• Uncoordinated eye movements with head turning after 3 months

• Persistent fisting (especially with thumbs adducted across the


palms beyond 3 months)

• No head control by 6 months

• No sitting independently by 10 months

• Unable to walk alone at 18 months

• No pointing to show demand or interest by 14 months


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Developmental “Red flags”
• No words with meaning by 18 months
• No joining two words by 30 months
Features of pervasive developmental disorders:
• Compulsive & ritualistic activities
• Severe language delay
• Poorly developed social relationship
• Abnormal attachment to inanimate objects
• Inappropriate affect & tantrums

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WHAT CAUSES DEVELOPMENTAL DELAY?
Prenatal

• Genetic disorders: (Down syndrome, fragile X syndrome, chromosomal


microdeletion or duplication)

• Cerebral dysgenesis: (Microcephaly, absent corpus callosum,


hydrocephalus, neuronal migration disorder)

• Vascular: (occlusion, haemorrhage)

• Drugs: (cytotoxic, anti‑epileptic)

• Toxins: (alcohol, smoking)

• Early maternal infections: (rubella, cytomegalovirus, toxoplasmosis)


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• Late maternal infection: (varicella, malaria, HIV)
WHAT CAUSES DEVELOPMENTAL DELAY? …

Perinatal

• Prematurity, intrauterine growth retardation,


intraventricular haemorrhage, periventricular
leucomalacia

• Perinatal asphyxia: (hypoxic‑ischaemic encephalopathy)

• Metabolic: (symptomatic hypoglycaemia,


bilirubin‑induced neurological dysfunction)
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WHAT CAUSES DEVELOPMENTAL DELAY? ……
Postnatal

• Infections: (meningitis, encephalitis)

• Metabolic: hypernatraemia, hyponatraemia, hypoglycaemia, dehydration

• Anoxia: suffocation, near‑drowning, seizure

• Trauma: head injury, either accidental or non‑accidental

• Vascular: stroke

Others

• Social: severe understimulation, maltreatment, malnutrition (deficiency of iron, folate


and vitamin D)

• Maternal mental health disorder


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• Unknown
Approach to a Child with Developmental Delay

• A child’s development is a dynamic process, and assessment at any

point in time is merely a snap shot of the bigger picture and should be

interpreted in the context of the child’s history from conception to the

present

• It is important to keep this in mind as you assess a child, and to keep

reassessing children in subsequent office visits

• Developmental assessment involves three aspects: screening,

surveillance, and definitive diagnostic assessment


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Approach to a Child…..
• History

• Prenatal History

• Obstetrical History

• Past medical history and medications

• Behavior since birth

• Family History

• Social History

• Screening Tools

• Physical Examination

• Investigation 29
MANAGEMENT

• Early intervention services that provide developmental


therapies intended to improve performance
• Physical therapy

• Occupation therapy

• Speech-language therapy

• Special instruction

• Counseling

• Family training
• Specific medical treatments targeted towards a child’s related medical
conditions should also begin with diagnosis 30
Early Identification of Developmental Delay

• Only about 50% of developmental problems detected


before the children begin school

• Parents are the 1st to pick up the signs

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Early Identification of Developmental Delay…
Use a range of methods to evaluate children’s development
 Checklist of developmental milestones
 Clinical judgment
 Parental recall of milestones
 Parent report of current achievements
 Developmental screening tests
 Developmental surveillance
 Parent evaluation of developmental status (1st line screen)

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Down syndrome

33
Down syndrome
1866

John Langdon Down, an English physician,


published an accurate description of a person with Down
syndrome

1956

The French physician Jerome Lejeune identified


Down syndrome as a chromosomal anomaly

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Introduction

• Human cells contain a multiple of 23 chromosomes


(n=23)

• A haploid cell (n) has 23 chromosomes

• If a cell’s chromosomes are an exact multiple of 23 (46,


69, 92 in humans), those cells are referred to as euploid

• 2n=46 is diploid

• 3n, 4n, etc are polyploid

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Introduction
• Abnormal cells that do not contain a multiple of haploid
number of chromosomes are termed aneuploid cells

• Monosomies: occur when only 1, instead of the normal 2,


of a given chromosome is present in an otherwise diploid
cell
• Trisomy is characterized by the presence of 3
chromosomes, instead of the normal 2, of any particular
chromosome
• Trisomy is the most common form of aneuploidy
36
Most common numerical abnormalities in live
born children
• Trisomy 21 (Down syndrome)

• Trisomy 18 (Edwards syndrome)

• Trisomy 13 (Patau syndrome), and

• Sex chromosomal aneuploidy: Turner syndrome (usually


45, X), Klinerfelter syndrome (47, XXY), 47, XYY

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Definition
• “Down syndrome is a chromosome disorder associated
with an extra chromosome (Trisomy 21) resulting in
intellectual disability and specific physical features.”
(ICD-9 code 758)

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Epidemiology
• In Ethiopia Down syndrome (2%) (Taye M et al. 2016).

• In USA, 10.3 per 10000 (Shin M, et al. 2009)

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Etiology
Research shows that three types of chromosomal changes
can lead to Down syndrome
• Nondisjunction – 95% (males 59%, females 41%)

• Translocation – 4% (females 74%, males 26%)

• Mosaicism – 1% (may have more subtle features)

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Common Clinical Manifestations

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Common Clinical Manifestations
Common physical signs of Down syndrome include
• Decreased or poor muscle tone
• Short neck, with excess skin at the back of the neck
• Flattened facial profile and nose
• Small head, ears, and mouth
• Upward slanting eyes, often with a skin fold that comes
out from the upper eyelid and covers the inner corner of
the eye 42
Common Clinical Manifestations
Common physical signs …
• White spots on the colored part of the eye (called Brushfield
spots)
• Wide, short hands with short fingers

• A single, deep, crease across the palm of the hand

• A deep groove between the first and second toes

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Common Clinical Manifestations
Intellectual and Developmental Symptoms
• Cognitive impairment, problems with thinking and
learning, is common it usually ranges from mild to
moderate
• Only rarely is Down syndrome associated with severe
cognitive impairment

44
Common Clinical Manifestations

Other common cognitive and behavioral problems


may include
• Short attention span

• Poor judgment

• Impulsive behavior

• Slow learning

• Delayed language and speech development

45
Diagnostic Modalities

• “The diagnosis of Down syndrome is most commonly


made by prenatal screening followed by definitive
diagnostic testing.”

46
Diagnostic Modalities
The serum triple screening test (STS):
 alpha fetoprotein (AFP)
unconjugated estriol (uE3), and
hcG or free beta subunit hCG (or β-hCG)

The integrated screening test (INS):


Ultrasonographic nuchal translucency (NT ) measurement
Various serum biochemical marker screening tests
47
Diagnostic Modalities
• Usually apparent from the clinical examination of the
newborn

• Diagnosis should be confirmed through chromosomal


analysis

• Since Down syndrome is associated with multisystem


involvement, additional diagnostic studies are performed
as appropriate
48
Diagnostic Modalities
Laboratory Workup
 Complete blood count (CBC) with differential

 Bone marrow examination to rule out leukemia

 Thyroid-stimulating hormone (TSH) and thyroxine (T4) levels


should be obtained at birth, at 6 and 12 months, and annually
thereafter, to rule out hypothyroidism
 Papanicolaou smears every 1-3 years in sexually active women
starting at the age of first intercourse

49
Diagnostic Modalities
Commonly performed studies …
• Fluorescence in situ hybridization (FISH)
• used for rapid diagnosis of trisomy 21
• Measurement of immunoglobulin G
• Measurement of immunoglobulin (Ig) G levels
focuses on identifying deficiencies of subclasses 2 and
4.
50
Diagnostic Modalities
Radiography and Ultrasonography
• Current evidence does not support performing routine
screening radiographs for assessment of potential
atlantoaxial instability in asymptomatic children
• When obtained, skull series show evidence of flattened
facial features (including small or absent nasal bones),
hypoplastic sinuses, a flat occiput, microcephaly, and
brachycephaly.
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Diagnostic Modalities
Radiography and Ultrasonography
• Cervical radiography (with lateral flexion and extension
views) is required to measure the atlantodens distance and
to rule out atlantoaxial instability at the age of 3 years.
• Echocardiography should be performed on all infants
suspected of having trisomy 21 to identify congenital heart
disease, regardless of findings on physical examination.

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Interventions
• Timely surgical treatment of cardiac defects during
first 6 months of life may prevent from serious
complications
• Congenital cataracts occur in about 3% of children and
must be extracted soon after birth to allow light to reach
the retina
• A balance diet and regular exercise are needed to
maintain appropriate weight
• Feeding problems and failure to thrive usually improve
after cardiac surgery
• A DS child should have regular check up from various
consultants
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THANK YOU!
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