Down syndrome

Definition

 A chromosomal disorder resulting in 47

chromosomes instead of 46, commonly called
trisomy 21
 Faulty cell division affecting the 21stpair of
chromosomes, either owing to a
•Non disjunction (95%)
•Translocation (3% to 4%)
•Mosaic presentation (1%)
 History and Incidence

 Approximately 4000 infants with down

syndrome are born annually in the united states
at a rate increasing with maternal age
 From 1 in 2000 when the mother is age 20, and
1 in 10 when the mother reaches the age of 49
 With an overall incidence of 1 in 800 to 1 in
1000 live births.
 Pathophysiology

 Neuromotor reasons
 Musculoskeletal
 Sensory & motor reasons
 Cardiopulmonary reasons
 Neuropathology

 Brain weight decreased when compared with normal.

 Cerebellum and brain stem lighter than normal.
 There is microcephaly, and the brain is abnormally
rounded and short with a decreased a-p diameter,
specifically called micro brachycephaly.
 Number of secondary sulci is reduced, resulting in a
simplicity of convoluted patterns in brains
 Structural abnormalities in the pyramidal tracts of the
motor cortex which results in incoordination
 Lack of myelination with a delay in the completion of
myelination between 2 months and 6 years of age
 SENSORY DEFICIT
 Visual and hearing deficits and speech
impairments are common in these children
 Visual deficits like cataracts, myopia and
nystagmus
 60% to 80% children have a mild to moderate
hearing loss.
 Otitis media often contributes to intermittent
or persisting hearing loss in children
Cardiopulmonary Pathologies
 Congenital heart disease
 Atrioventricular septal defect
 Ventricular septal defect
 Mitral valve problem
 Patent ductus arteriosus
Musculoskeletal Differences

 Decrease in normal velocity of growth in stature

 Leg-length reduction
 Absent palmaris longus & Reduction in metacarpal
and phalangeal length.
 Ligamentous laxity is thought to be due to a collagen
deficit
 Pes planus, patellar instability, scoliosis and atlantoaxial
instability
 Atlantoaxial subluxation due to laxity of odontoid
ligament
 Hip subluxation with generalized hypotonia
 Grip strength, isometric strength and ankle strength.
 Miscellaneous!!

 Senses issues
 GIT issues
 Cancer
 Endocrine

 Congenital hypothyroidism
 Immune system problems
 Autoimmune hypothyroidism
 Type I diabetes mellitus
 Physical Characteristics

 Small chin with slanted eyes with Poor

muscle tone
 Flat nasal bridge
 Single crease of the palm, protruding and
large tongue.
 Flat and wide face with short neck, excessive
joint flexibility
 Extra space between big too and second toe
with Hands and feet tend to be small
 Umbilical hernia
 Speech difficulties
 ASSESSMENT
 Comprehensive developmental testing
 Component testing of gross and fine
motor skills
 Qualitative observational assessment of
movement
 Musculoskeletal assessment
 Assessment of automatic reactions and
postural responses
 Functional assessment.
Note !!

 The average IQof a young adult with

Down syndrome is 50, equivalent to the
mental age of an 8-9 year old child, but
this varies widely
 Learning Differences

 Intellectual disabilities in down syndrome

have been found to:
 Be capable of learning
 Benefit from frequent repetitions in order
to learn
 Have difficulty generalizing skills
 Need more frequent practice sessions in
order to maintain learned skills
 Need extended time to response
 Functional limitations

1.Gross motor developmental delay.

2.Difficulties in eating and speech
development because of low tone.
3.Forceful neck flexion and rotation
activities should be limited due to atlanto-
axial ligament laxity.
4.Cognitive and perceptual deficits may
result in delay of fine motor and
psychosocial development.
 Note !!

 In addition to developmental delay, there

is evidence to suggest that muscular
hypotonia, ligamentous laxity, and
postural difficulties contribute to some
movement differences observed in
children with Down syndrome. Examples
include “W” sitting
Physical Therapy Interventions

 Teach the caregivers appropriate

positioning and handling activities to
promote antigravity control and weight
bearing
 Emphasize trunk extension and extremity
loading to increase axial muscle tone
 Encourage the righting and postural
reactions during movement
 Encourage dynamic rather than static
exploration of movement
 Avoid hyperextension of elbows and
knees during weight bearing activities
 Facilitate the developmental milestones in
areas of cognition
 Teaching parents and other team
members regarding activities
According to Sports Medicine
of the American Academy
 They recommend:
 An initial set of cervical spine radiographs
at 2 years of age
 Follow-up radiographs in grade school
 Then at adolescence
 Then at adulthood.
 Cardiopulmonary Fitness

 General physical fitness is often below

desired levels in children
 Decrease risk for restrictive pulmonary
diseases
 Reduced cough effectiveness.
 Decreased lung volumes, including vital
capacity and total lung capacity, may
contribute to a deficiency of the pulmonary
system to oxygenate.
 If there is a reduction in the maximum
amount of oxygen available for transport
leading to a reduced level of physical fitness.
 Goals !!

 To encourage cardiopulmonary
endurance, overall physical fitness, and
parent/caregiver/client education.
 Participation in sports and recreational
activities such as
 Swimming
 Dancing
 Martial arts
Oral motor development

 Facilitate lip closure and tongue

retraction.
 Short, frequent feeding sessions for
energy conservation.
Medical-surgical management
of Down Syndrome

 Yearly radiographs to rule out atlanto-

axial subluxation
 Medical-surgical correction of cardiac
problems
 Prognosis!!

 Correlated with tone, the lower the tone

the more significant the motor delay will
be.
 All children with Down Syndrome will
eventually become ambulatory.
 Summary

 User friendly strategy

 Physical therapy evaluation and
intervention must incorporate not only
the basic principles of pediatric physical
therapy but also an understanding of the
principles of teaching and learning related
to the child with intellectual disabilities.
 Should be sensitive listener and creative
teacher