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Development in Down Syndrome

This document discusses Down syndrome (DS), also known as trisomy 21. It provides the following key points: - DS is the most common genetic cause of intellectual disability. It results from a third copy of chromosome 21. - Individuals with DS often experience developmental delays and medical conditions such as heart disease and hearing/vision problems. - Motor, language, cognitive, and other skills develop more slowly compared to typical children. Early intervention is important to maximize development. - Parents need accurate information to support their child's lifelong learning and address medical issues associated with DS. Early diagnosis and management are crucial for a favorable outcome.

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Roilan Marlang
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51 views30 pages

Development in Down Syndrome

This document discusses Down syndrome (DS), also known as trisomy 21. It provides the following key points: - DS is the most common genetic cause of intellectual disability. It results from a third copy of chromosome 21. - Individuals with DS often experience developmental delays and medical conditions such as heart disease and hearing/vision problems. - Motor, language, cognitive, and other skills develop more slowly compared to typical children. Early intervention is important to maximize development. - Parents need accurate information to support their child's lifelong learning and address medical issues associated with DS. Early diagnosis and management are crucial for a favorable outcome.

Uploaded by

Roilan Marlang
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Francis Xavier M.

Dimalanta
Developmental-Behavioral Pediatrics
WHAT IS DOWN
SYNDROME ?
TRISOMY 21

The most common


genetic cause of
mental
retardation
FACTS ABOUT DOWN
SYNDROME
• 1: 600 - 800 births
• Boys= Girls
• 47 Chromosomes : Trisomy
21
• Genetic “ accident”
• o
Three types :
Nondisjunction (95% )
o Mosaicism (1-2% )
o Translocation (3-
4% )
CLINICAL SIGNS ASSOCIATED
WITH DOWN SYNDROME
• Hypotonia
• Poor moro reflex
• Hyperflexibility of the joints
• Flat facial profile
• Slanted palpebral fissures
• Anomalous auricles
• Simian crease
• Excess skin at back of the
neck
MEDICAL CONDITIONS IN
DS Heart Disease
Congenital 30-60%

Hearing concerns * 50%

Vision problems * 5-50%

Thyroid problems * 15-30%

Atlanto axial instability 14%

Seizure disorders 5-10%

Developmental delay/ growth delay * Common

* Developmental
Developmental Expectations in
DS

• Great diversity in the behavior, intellect


and physical development of children with
DS
• Language and motor skills slowest to
develop
• Self help and eye hand coordination fastest
to progress
• Mental retardation may range from mild
3/12/1
6 to severe
Domains of
Development
• Gross motor
• Fine motor
• Language
• Personal-
Social
• Cognitive
Normal Gross Motor Development
Motor milestones in
DS DS Non-DS
Rolling over ( 2-12 m ) ( 2-10 m )
Average: 6m 5m

Sitting ( 6-18 m ) ( 5 -9 m )
Average: 9m 7m

Walking ( 12-45 m ) ( 8-18 m )


Average: 20 m 13 m

Pueschel,
1990
Hypotonia in
DS

• Most studied and best predictor of


later motor skill attainment
• Often affected by presence of
serious congenital heart disease
• Probably due to dysgenesis of the
cerebral cortex and cerebellum as
well as delays in myelination
When there is no
intervention…
Compensatory movement patterns develop
• standing and walking with hips in external
rotation, knees stiff, feet flat and turned
out
• sitting with their trunk rounded and
pelvis tilted back
• standing with a lordosis
Delays in early language
skills

• Spoken language
emerges between 2 1/2 to
4 years
• No vocabulary spurt 3 yrs
= 18 words
• Comprehension is better
• Variable
speech
intelligibility
Why is speech poorly
understood?
• Small oral cavity
• Enlarged tongue
• Elevated larynx
• Hypotonia of speech muscles
• Underdevelopment of
sinuses
Delays in early language
skills
• Frequent use of routines
or stereotyped
expressions of speech
• Difficulty processing
sequential information
• 60-80% have hearing deficits
• 20-50% have recurring otitis
media
• Faster reaction time to
visual rather than auditory
signals
Implications for
therapy
• The use of gestural learning as a
way to bridge transition to
speech
• Use of amplification ( hearing
aids)
• Early referral to speech
and language
pathologist
• Parent training
Learning - The key problem for
children with DS

• The “difference-
delay”
debate
• Factors determining
developmental
progress: what is
the learning style of
DS children?
Difference-Delay
debate
• Sequence of development
is preserved but progress
is slow
• Difference in
development shown in
better performance of
social adaptation
• Progressive deceleration
of intellectual growth
over time
Learning style of
DS
• Consolidation takes longer in children with DS
• Slow growth and maturation of memory as
well as limited attention span present as
barriers
• More receptive
to visual than
auditory signals
• Better function
in daily
situations than “
test” situations
Early
Intervention

• These organized services


attempt to maximize the
developmental potential of DS
children.
• It should begin as early as
possible. 2nd month of life-
evaluates the
family and child
During 1st year- setting
What to do for babies with
DS

• Begin early stimulation and handling


• Establish feeding routines
• Recognize and evaluate parental
expectations

An early diagnosis is important !


Pitfalls in
management
Newborn period
• Failing to inform and educate the
parents in a sensitive manner
First year of life
• Failure to detect a monitor critical
medical problems: CHD, GI, Ear
infections
Pitfalls in
management
Adolescence
Failure to identify medical problems
that impair the acquisition of
developmental skills like:
• Hypothyroidism
• Chronic serous OM
• Impaired visual acuity
Pitfalls in
management

Adolescence to Adulthood
• Medical problems like Alzheimer’s and
mitral valve prolapse may be unfamiliar
to pediatricians
• Lack of community resources for
vocational training, social skills
development , recreational and job
opportunities
Determinants for favorable
outcome

• Early diagnosis
and management
of medical
conditions
• Parental
involvement
• Positive child
factors
• Positive family
factors
What new parents need to
know about development
in DS
• The child with DS is
a child first
• Children with DS
have
abilities
• Children with DS make
developmental
progress
• LEARNING is a lifetime
experience for those
3rd Floor, 295 Fortress Hill Building
Shaw Boulevard, Bgy. Hagdan Bato Libis
Mandaluyong, Philippines
Tel/Fax: + 63 (2) 8895-9642
E-mail: [email protected]
Website / Facebook / Yahoo Group

28
Thank
you!

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