Brief description about down syndrome with its pt management

1. Down Syndrome
DR. SUNANDA BHOWMIK(PT)
B.P.T, M.P.T (Paediatric & Neonatal Physical
Therapy)
Double Gold Medallist
Assistant Professor
MMIPR,MM(DU)

2. American
Psychiatric Association (2013)
• Deficits in general mental abilities, measured only partially in
terms of IQ
• An individual with intellectual disabilities will concurrently have
deficits in adaptive functioning, which are “how well a person
meets community standards of personal independence and social
responsibility,
• Both of these criteria must be in evidence during childhood or
adolescence, considered a person’s developmental period.

3. DOWN SYNDROME
• NEURO-MUSCULAR: Hypotonia, low muscle force production,
slow postural reactions, slow reaction time, motor delays
increasing with age
• MUSCULUSKELETAN: Joint hyperflexibility, ligamentous
laxity, foot deformities, scoliosis, atlantoaxial instability
• CVS: Congenital heart disease, lung hypoplasia with pulmonary
dysplasia

4. IMPAIRMENTS
• Primary impairments occur due to deficit in CNS, these are
deficits in motor control, coordination, postural control, force
production, flexibility, and balance
• Learning impairments: Unable to manage simultaneous or
multiple demands, unsuccessful organize complex information,
inability to perform a learned task across different environments
• Memory impairment is seen with difficulty recalling multistep
directions

5. Slow learning rate and frequent failure to learn experienced by
individuals with intellectual disabilities

6. DEFINITION
Down syndrome is a chromosomal disorder resulting in 47
chromosomes instead of 46.65 Commonly called trisomy 21, Down
syndrome results from faulty cell division affecting the 21st pair of
chromosomes,

7. NEUROPHYSIOLOGY
• Overall brain weight in individuals with Down syndrome is 76%
of normal,
• combined weight of the cerebellum and brain stem being even
smaller—66% of normal
• There is microcephaly, brain is abnormally rounded and short
with a decreased A-P diameter,
• There are also structural abnormalities in the dendritic spines in
the pyramidal tracts of the motor cortex
• lack of myelination with a delay in the completion of myelination
between 2 months and 6 years of age

8. Deficiency
• Visual and hearing deficits, and speech
impairments are common
• Visual impairments include: strabismus,
nystagmus,myopia, Farsightedness, Catarects
• Otitis media

9. • Brachycephaly
• Down syndrome has a somewhat flat contour, primarily because of the
underdeveloped facial bones, facial muscles, and a small nose.
• Tongue may take on a furrowed shape in later childhood
• Dentition is often delayed and may be spotty
• umbilical hernia.
• Hands and feet tend to be small, and the fifth finger is curved inward
• simian crease
• wide space between the first and the second toes, with a crease running between
them on the sole of the foot.
• leg-length reduction
• reduction in metacarpal and phalangeal length
• lack of differentiation of distinct muscle bellies for the zygomaticus major and
minor and the levator labii superior,
• Pes planus, Atlantoaxial instability
• Forearm flexors, palmaris longus absent

10. • Learning Differences
Generally, children with intellectual disabilities such as Down
syndrome have been found to: 1. be capable of learning
2. benefit from frequent repetitions in order to learn,
3. have difficulty generalizing skills,
4. need more frequent practice sessions in order to maintain learned
skills,
5. need extended time to respond,
6. have a more limited repertoire of responses.

11. PT MANAGEMENT
• use of aligned compression or weight-bearing forces to stimulate
longitudinal bone growth as well as thickness and density of the bone
and shaft,
• aligned, supported weight bearing to promote joint stability and
formation,
• facilitation of muscular cocontraction, force production, and increased
muscle tone.
• increase cardiopulmonary endurance and muscular strength.
• Participation in sports and recreational activities such as swimming,
dancing, and martial arts should be encouraged and supported from
early childhood and onward

12. • POINTS TO REMEMBER:
• The aging process appears to start earlier in persons with
intellectual disabilities, perhaps as early as age 35, and
generally at around age 55
• Therapists should be alert to these anticipated issues: early
menopause with the related secondary effects, such as increased
risk for osteoporosis, thyroid dysfunction, obesity, diabetes
mellitus, late onset of seizure disorder, increased visual or
hearing impairment, cardiac disease, depression, dementia, and
Alzheimer disease

13. THANK YOU