Downs syndrome is a genetic condition caused by trisomy 21, mosaicism, or translocation. It affects multiple body systems including the neuromotor, sensory, musculoskeletal, and cardiopulmonary systems. Common features include short stature, hypotonia, joint hypermobility, cognitive impairment, and oromotor issues. Assessment involves history, examination of movement and skills, and functional testing. Management takes a combined approach targeting sensory and motor systems to improve functional development while preventing secondary issues. Treatment focuses on facilitating appropriate muscle use, strengthening, sensory processing, and praxis through neurodevelopmental therapy and sensory integration techniques.

1. Downs syndrome
Dr. Manjiri Kulkarni (PT)

2. Contents
• Definition
• Pathology
• Impairments
• Assessment
• Management

3. Definition
• Trisomy 21
• Mosiac type
• Translocation type

4. Pathology
• Shows multisystem affection
• Neuromotor system
• Sensory system
• Musculoskeletal system
• Cardiopulmonary system

5. General features
1. Short stature
2. Short thick neck
3. Rough dry skin
4. Brachycephalic skull
(short, wide head)
5. Slanting palpebral
fissures
6. Flattened nasal bridge

6. 1. Under developed and
hypoplastic upper jaw
2. Minimal space in oral
cavity
3. Irregular dentition,
microdontia (Small
teeth)
4. Fissured protruding
tongue
5. Short broad hands, short
fingers, short curved
little fingers
6. Palmar simian crease

7. Neuropathology
• Reduced number of sulci
• Small size cerebellum and brainstem
• Overall brain weight is 76% of the normal
• Structural abnormalities in the pyramidal tracts
• Lack of mylenation in precentral area of the
frontal lobe.
• Lack of myelination and delay in completion of
myelination- probable cause of developmental
delay & Hypotonia

8. Motor impairments
• Hypotonia- Generalized whole body hypotonia
• Areflexia/ Diminished reflexes
• Muscle weakness
• Joint hyperflexibilty
• Impaired postural responses
• Poor balance
• Low aerobic capacity

9. Sensory deficits
Visual
impairments
-Myopia
-
Farsightedness
- Strabismus
- Nystagmus
Auditory
impairments
-Mild to
moderate
hearing loss
- Otitis media
Speech
impairments
- Delayed
speech and
language
development

10. Tactile system
-Hyporesponsivity
-Decreased
awareness of tactile
input
-Discrimination of
object
-Poor stereognosis
Proprioceptive
system
-Deficits in
joint position
sense and joint
movement
Praxis
- Affected
ideation,
planning and
execution

11. Cardiopulmonary pathologies
• Almost 40% - Congenital heart diseases
• Most common- Atrioventricular defects
Ventriculoseptal defects
• Usually repaired in infancy
• If not done till 3 years of ages associated
with greater developmental delays
• Obesity
• Obstructive Sleep Apnea

12. Musculoskeletal impairments
• Ligamentous laxity
- Pes Planus
- Patellar instability
- Atlanto axial instability
- Scoliosis
- Hip subluxation
• Slow velocity of growth in stature
• Leg length reduction
• Lack of differentiation of distinct muscle bellies-
zygomaticus major and minor, levator labii superior

13. Cognitive impairment
• Low intelligence/ mental retardation
• Have attentional difficulties
• Difficulties with information processing

14. Oromotor Impairments
• Sensory and motor base
• Poor lip closure
• Tongue trusting
• Protruding tongue
• Excessive drooling of saliva
-Weak musculature
-Under development of maxilla
- Hypotonia
- Unrestricted pull of gravity

15. Assessment
• Demographics
• History
• Developmental history
• Surgical history

16. • Observational examination of movement
• Gross and fine motor testing- Tone
Muscle strength
Balance
Posture
• Examination of automatic reactions and postural
responses
• Examination of musculoskeletal system

17. • Functional examination
• Presence of reflexive movement patterns
• Responses to sensory stimuli- Tactile
Vestibular
Visual
Auditory
• Aerobic capacity

18. Management
• Should be a combined approach
• Target sensory and motor system simultaneously
• Work to achieve functional development
• Be vigilant about secondary complications of
hypotonia and ligamentous laxity

19. Impairments
• Hypotonia and hypermobility
• Altered proprioception, tactile hyporesponsitivity
• Poor praxis
• Minimal antigravity movements
• Minimal weight bearing abilities
• Poor static and dynamic balance
• Limited sensory strategies
• Lack of bilateral upper limb use
• Impaired reciprocal movements of lower limbs

20. Goals
• To facilitate co-activation of muscles
• Improve functional activities
• Improve body alignment
• Reduce the inappropriate use of hypermobility
• Improvise sensory processing- increase body
awareness
• Improvise praxis

21. Common approaches used
• Neurodevelopmental therapy (NDT)
- Facilitate the appropriate muscle use during
functional activities
- Strengthen the weak muscles through
functional activities
- Inhibit abnormal movement patterns and
encourage normal movement patterns

22. • Sensory integration
- To improve body awareness
- To improvise the proprioception and response to
tactile stimuli
- Improve the attention span
- Plan activities to enhance motor planning
- Play based therapy