Down’s syndrome is a chromosomal disorder resulting in 47 chromosomes instead of 46. commonly called trisomy 21.
Down’s syndrome result from faulty cell division affecting the 21st pair of chromosomes.
SYMPTOMS
- Delay in motor transition like turning, sitting, standing or walking,
- difficulty in fine motor activity,
- difficulty in balancing activity,
- delay in speech,
- hyper mobility of all joint,
- flat feet,
- lack of face muscle belies,
- flexible spine,
- hearing or visual problem,
- some patient suffering mental retardation.
- cognition problem is also their.
Down’s syndrome affect
- Neuropathology
- Musculoskeletal
- Cardiopulmonary
- Sensory deficits
- Learning differences
1. Neuropathology
- CNS disorder
- Microbrachycephely
- Motor incoordination
- Lack of myelination
- ( that cause developmental delay)
Treatment
- Anticipate gross and fine motor delay and provide intervention to minimise it.
- positioning and handling activities to promote antigravity control and weight bearing
- facilitate antigravity extension in prone
- weightshiffing
- transition from prone
- In supine and supported sitting, encourage midline orientation,
- Bimanual activity including eye-hand coordination.
- Activity to promote anterior neck and trunk antigravity strength.
- Increase axial tone
- allow dynamic movement rather than static movement
- Supported sitting and standing when trunk control.
2. Musculoskelatal difference
- Liner growth deficits are observed, including a decrease in normal velocity of growth in structure.
- Reduce the length of leg and 10% to 30% reduce in metacarpal and phalangeal length.
- Muscle variation is present including an absent plamaris longus & supernumerary forearm flexors.
- lack of muscle belies for the zygomaticus major and minor and levator labii superia in face.
- other problem is hypotonic and ligamentus laxity result pes planus, patellar instability, scoliosis, atlantoaxial instability.
- Hip subluxation is also comman
- Hypotonia found in all muscle group of extremities, neck, trunk, hall mark feature in children.
- It is a major contributing factor to development motor delay.
- problem in grip strength, isometric strength and ankle strength.
Treatment
- Avoid exaggerated movement
- Joint approximation
- compression of cervical spine
3. cardiopulmonary pathologies
- Most comman down syndrome with congenital heart defects
- Atrioventricular canal defects
- Ventriculoseptal defects
- Its risk for restrictive pulmonary disease
- Decease lung volume and weak cough
- high risk of respiratory infection
Treatment
- Increase cardiopulmonary endurance and muscular strength.
4. sensory deficits
- Visual and hearing problem are comman in children with down syndrome
- In vision ( cataracts, myopia, farsightness, strabismus, nystagmus )
- 60% to 80% are found to have mild to moderate hearing loss
Treatment
- sensory integration therapy for vision and hearing.
5. Learning differences
specially in mental retardation
- capable of learning a fewer number of thing
- need a greater number of repetition to learn
- greater difficulty generalising skill
- greater difficulty maintaining skill
- slower response time
Treatment
- Develop area of cognition, language, socialization
- special education
- behaviour therapy