DOWN

SYNDROME

James Suthigoseeya
 • Chromosomal Condition (Most Common)

• 1 in 700 babies in U.S. born with it

What is Down
Syndrome? • About 6,000 babies born with Down Syndrome each year

• 38% of Americans know someone with Down Syndrome

 • Genes carry codes responsible for all of our inheritied traits
• Typically there are 46 chromosomes present
Description of – 23 pairs of chromosomes inherited from each parent

Down • Down Syndrome is when an individual as a FULL or

PARTIAL extra copy of chromosome 21.
Syndrome – Alters course of development and causes characteristics
associated with Down Syndrome.
– 47 total chromosomes
 John Langdon Down in 1866
put together an accurate Scientists in 2000 catalogued
description of a person with approximately 329 genes on
Down Syndrome chromosome 21.

Brief History
of Down 1866 1959 2000

Syndrome
Jerome Lejeune in 1959
identified Down Syndrome as
a chromosomal condition.
Types of Down
Syndrome

• Trisomy 21
(Nondisjunction)
– Error in cell division called
“nondisjunction”
– 3 copies of chromosome 21
instead of 2 in an embryo
– Prior to or at conception, a pair of
21st chromosomes in either sperm
or egg fail to separate
– 95% of Down Syndrome cases
Types of Down Syndrome
• Mosaicism (Mosaic
Down Syndrome)
– Mixture of two types of cells, some
containing 46 and some containing
47
– Cells with 47 chromosomes contain
an extra chromosome 21
– May have fewer characteristics of
Down Syndrome than other types
– 1% (least common)
Types of Down
Syndrome

• Translocation
– Total number of chromosomes
remain 46
– An additional full or partial copy
of chromosome 21 attaches to
another chromosome, usually
chromosome 14.
– 4% of Down Syndrome Cases
 • Regardless of type of Down Syndrome, they all have an
extra, critical portion of chromosome 21.
• The cause is UNKNOWN
• Maternal age is the only factor linked to increased chance
Causes of of Down Syndrome

Down – However, due to higher birth rates in younger women, 80%

are born to women under 35 years of age.

Syndrome • No definite research caused by environmental factors or

parent’s activities during pregnancy
• Additional partial of full copy of chromosome 21 can come
from either mother or father
– .5% of cases traced to father
Causes of Down
Syndrome Cont.

• All races and economic levels

• Older women have increased
chances
• 35-year-old woman has 1 in
350 chance
• Chance gradually increases to
1 in 100 by age 40
• 45-year-old woman has a 1 in
30 chance
 • All 3 types are genetic conditions
– 1% of all cases have a hereditary component
Down – Heredity not a factor in Trisomy21 and mosaicism however,

Syndrome in 1/3 resulting in translocation has a hereditary component.

• Age of mother not linked in translocation however 1/3

families cases, one parent is the carrier of translocated

chromosome
• Genetic counseling can determine origin of translocation
 • Prenatally
– Screening tests and Diagnostics tests

• Prenatal screens estimate chance of Down Syndrome

How is Down – Does NOT tell you for sure, but provides probability

Syndrome • Diagnostic test can provide a definite diagnosis with 100%

accuracy
Diagnosed • Most screening tests involve a blood test (serum screening
test) and ultrasound (sonogram)
– NOT invasive, provide high accuracy rate, but will NOT
diagnose Down Syndrome
 • Diagnostic Tests
– CVS (Chorionic Villus Sampling) and Amniocentesis
– 1% risk of causing miscarriage but nearly 100% accurate

How is Down
• CVS performed in first trimester between 9 and 14 weeks
• Amniocentesis performed in second trimester between 15 and 20

Syndrome
weeks
• PUBS (Percutaneous Umbilical Blood Sampling is performed after

Diagnosed
18 weeks

Cont.
How is Down
Syndrome
Diagnosed Cont.
• Diagnosed at Birth
– Physical traits: low muscle town, single
deep crease across the palm, slightly
flattened facial profile, upward slant to
the eyes
– Karyotype
– FISH (fluorescence in situ hybridization)
• Shorter amount of time, detects
presence of trisomy 21 but no info if it is
secondary to translocation
• FISH test must be confirmed with a
complete karyotype analysis regardless
 • Some of the common physical traits of Down syndrome are:
low muscle tone(hypotonia)
small stature in both children and adults
an upward slant to the eyes (almond-shaped)
a single deep crease across the center of the palm
a flattened face, especially the bridge of the nose
Symptom a short neck
small ears

Descriptions a tongue that tends to stick out of the mouth

small hands and feet
tiny white spots on the iris of the eye
small pinky fingers that sometimes curve toward the thumb
(clinodactyly)
* although each person with Down syndrome is a unique
individual. They may possess these characteristics to different
degrees or not at all. *
 • Motor Skills
gross motor skills
coordination (due to short hands)
poor bilateral motor coordination and poor midline stability
fine motor skills (grips, dexterity, hand functions)
delayed developmental milestones (missed milestones such as
creeping on hands and knees)
alternate forms of locomotion (scooting on buttocks, creeping

Performance on feet/hands w/ extended knees)

reflex development (maturation and integration)

Skills Impacted muscle tonus (hypotonicity and hypermobility of the joints)

ROM
Oral motor skills
congenital heart disease can limit physical capacity and lower
endurance
malalignment of neck vertebrae (atlantoaxial joint instability at
C1/C2 that exposes spinal cord injury)
shortened bones in arms/legs (difficulty for climbing stairs,
propping on elbows)
muscle weakness (trunk and flexor muscle groups)
poor motor planning (dyspraxia - neurological disorder impacts
planning and processing of motor tasks)
 • Process Skills
sensory registration
sensory processing (under responding)
decreased awareness and attention to tactile
stimulation leading to lack of discrimination and
stereognosis through tactile sense and failure to
manipulate objects
Performance decreased awareness of body positioning, related to
decreased kinesthetic feedback
Skills Impacted failure to alter force of movements to accomplish tasks
decreased sense of balance and equilibrium responses
decreased duration of postrotary nystagmus
sensory processing (overresponding)
resistance to handling, touching, being touched
(tactile defensiveness)
avoidance of weightbearing on arms, legs, hands,
knees (proprioceptive hyperresponsiveness)
fear of heights, unstable moving surfaces
(gravitational insecurities) ramps, swings, sliders, etc
 • Process Skills Cont.
perceptual skills
attending behavior (poor)
span of attention (concentration)

Performance
problem solving and decision making
memory
learning skills
Skills Impacted self-perception (low self-esteem, passive and lacking
motivation, delayed affective behavior)
coping skills
daily living skills
productivity history (skills, interests, values)
leisure interests
selfcare
 • Communication/Interaction Skills

Performance
social interaction skills
may not initiate social contact for fear of being
laughed at or rejected
Skills Impacted social development may be delayed
communication skills
speech production may be affected by person’s thick,
broad tongue
 • Heart – congenital heart defects

Body • Gut - Constipation, diarrhea, indigestion and even bowel

obstructions are common

Structures • Ears - Chronic ear infections

• Eyes - Vision problems
Impacted • Thyroid Gland – hyper and hypothyroidism
• Brain – early onset of dementia
• Spine - AAI
 OT Interventions

SELFCARE – DURING INFANCY SUCH AS FEEDING AND GROSS MOTOR SKILLS – EARLY CHILDHOOD SUCH AS FINE MOTOR SKILLS – EARLY CHILDHOOD AS IN
DRESSING. OT CAN HELP PARENTS WHOSE FOCUSING ON LOW MUSCLE TONE, LOOSE BEING ABLE TO PICK UP SCISSORS TO BE ABLE TO
CHILDREN HAVE WEAK MUSCLES IN CHEEK, TONGUE, LIGAMENTS IN JOINTS TO STRENGTHEN AND HAVE CUT THINGS AND WRITE.
LIPS. LEARNING HOW-TO PUT-ON SHIRTS AND ZIP INCREASED ENDURANCE
JACKETS IN EARLY CHILDHOOD
 OT Interventions Cont.

• School Performance – early childhood to work on visual and auditory deficits, printing,
handwriting, keyboarding as well as adaptations in the classroom such as positions of desks
and chairs based on child’s abilities.
• Play/Leisure – early childhood, also has to do with motor and socially as they explore,
experiment with running around, picking up and releasing toys of various objects and sizes.
 • Disruptive, impulsive, inattentive, hyperactive and
oppositional behaviors

Identification of • Anxious, stuck, ruminative, inflexible behaviors

• Deficits in social relatedness, self-immersed, repetitive
child’s stereotypical

psychosocial • Chronic sleep difficulties, daytime sleepiness, fatigue, and

mood related problems
issues • Depression, social withdrawal, diminished interests and
coping skills
• Generalized anxiety
 • Depression
• Responses to infant behavior could be either be delayed
Identification of (avoidance of contact, hyper stimulation)
• Hyper protection
family’s • Fear of rejection from outside world or “going out”
psychosocial • Caretaking demands

issues • Supervisory demands

• Affective demands
• Physicians – refer to therapy services and prescribe
medication, medical needs
• Physical therapists – gait, strengthening, endurance Healthcare
• Occupational therapists – self-care, ROM, cog, professionals
adaptive equipment, occupational performance
involved with
• Speech therapists – communication (verbal and
nonverbal), feeding, cognition
care
• Psychologists – assess and advice about learning and
behavior, assess special ed needs
• Special education teacher – teaching life skills and
basic literacy, modifying gen ed curriculum to meet
child’s individuals needs
 Occupational OT works on self-care skills (ADLs such as feeding,
grooming, dressing) – less assistance and improved self-
Performance care skills – child can be more independent and relieving
changes with OT stress on family members

services OT works on gross motor skills – developed gross

milestones (sitting, crawling, standing, walking) –
independent mobility

OT works on fine motor skills – better play, opening, closing

things, release, pick up objects – learns more skills through
play and interaction, will help social and exploration

OT addresses sensory needs – better tactile,

proprioceptive, vestibular, auditory input/output -
Life with Down
Syndrome Video

• https://youtu.be/ILgLmChlxNg

• Here is the Youtube Link if the

Video doesn’t work!

• Also, special thanks to Kelly for

providing me with such great
info and being a great advocate,
parent, and sibling to loved
ones with Down Syndrome
AOTA. (2008). Retrieved from https://www.aota.org/About-Occupational-Therapy/Professionals/CY/Articles/Down.aspx.
CDC. (2020). Retrieved from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.
Central Mississippi Down Syndrome Society. (2020). Retrieved from https://cmdss.org/.
DSE. (1996). Retrieved from https://library.down-syndrome.org/en-us/research-practice/04/3/families-down-syndrome/.
DSE. (2005). Retrieved from https://library.down-syndrome.org/en-us/news-update/05/1/psychological-support-provided-families-young-down-syndrome/.
GiGi's Playhouse. (2020). Retrieved from https://gigisplayhouse.org/.
Global Down Syndrome Foundation. (2020). Retrieved from https://www.globaldownsyndrome.org/.
Mayo Clinic. (2020). Retrieved from https://www.mayoclinic.org.
Medscape. (2020). Retrieved from https://www.medscape.com/answers/943216-181152/what-is-the-role-of-fish-in-the-workup-of-down-syndrome.
National Association for Down Syndrome. (2018). Retrieved from https://www.nads.org/.
National Down Syndrome Society. (2020). Retrieved from https://www.ndss.org.
Reed, K. L. (1991). Quick Reference Guide to Occupational Therapy. Gaithersburg, Maryland: Aspen Publication.
Scientific Animations. (2017, March 21). Retrieved from https://www.scientificanimations.com/organs-affected-down-syndrome/.

References