Down syndrome

1. Down SynDromE
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2. Objectives
1. To define down syndrome
2. To discuse the cause of down syndrome
3. To list clinical features of down syndrome
4. To discuss physiotherapy management of down
syndrome
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3. Down Syndrome
q DS or DNS is a neurodevelopmental syndrome named for John
Langdon Haydon Down who first described the physical and
behavioral characteristics in 1862.
qThe “father” of the syndrome
qHe described the condition as a distinct and separate entity
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4. Down Syndrome (DS)
Ø Genetic disorder attributed to chromosomal
abnormality → Trisomie 21
Ø The most common genetic cause of developmental
disability and Affects both the gross motor and fine
motor skills.
Ø Incidence 1 in 800 to 1 in 1.000 live births
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5. What Causes Down Syndrome?
qDown syndrome is usually caused by an error in cell division
qThis additional genetic material alters the course of
development and causes the characteristics associated with the
syndrome
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6. ØIn individuals with Down syndrome, the cells usually contain
47, not 46, chromosomes; the extra chromosome is the 21st.
ØThis excess genetic material, in the form of additional genes
along chromosome 21, results in Down syndrome.
ØThe extra 21st chromosome is detected by using a procedure
called a karyotype.
ØA karyotype is a visual display of the chromosomes grouped by
size, number and shape.

7. ØDown syndrome is usually caused by an error in cell
division called non-disjunction.
ØHowever, two other types of chromosomal abnormalities,
mosaicism and translocation, are also implicated in Down
syndrome although to a much lesser extent.

8. Cont…
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9. Maternal age as a risk factor…
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10. CliniCal FEaturES
Ø Short arms and legs
Ø Flat nasal bridge
Ø Folded ears
Ø Open mouth
Ø Protruding tongue
Ø Short neck
Ø Excessive skin at the nape of neck
Ø Short broad hands
Ø Short fifth finger
Ø Incurved fifth finger
Ø Transverse palmer crease
Ø Space between first and second toe
Ø Hyper flexibility of joints
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14. qAcademic/cognitive skills usually lower than
adaptive/every day skills, which show improvement
through mid-adulthood
qOnset Alzheimer dementia (losing memory and skills)
10 years earlier than general population
qDiabetes/obesity
qLower blood pressure
Down Syndrome cont…
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15. Musculoskeletal differences
qGrowth deficits
qLeg length reduction
qHYPOTONIA
qLigamentous laxity -> HYPERMOBILITY -> developmental delay
qPes planus, patellar instability
qscoliosis (52%)
qHipluxation
qAtlantoaxial subluxation C1 on C2 (12% to 20 % incidence)
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16. Mental Retardation
• Almost all DS babies have MR
• Mildly to moderately retarded
• IQ declines through the first 10 years of age, reaching a plateau in
adolescence that continues into adulthood
qHeart Disease
• 50 % of Down Syndrome pts have heart disease
qGI abnormalities
• 5% of cases
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17. Motor Development
qReach milestones at a later stage
qRange of age when a child reaches a milestone is wider
qOrder in which milestones are achieved are different
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18. Milestone In DNS
ØSit alone 6-30 months
ØCrawls 8-22 months
ØStands 12-39 months
Øwolks alone 12-48 months

19. Contributors to Delayed Motor Skill Development
qGreater joint ROM, presumably attributable to ligamentous laxity
qDelayed development of postural reactions and myelination
qLow muscle tone
qCongenital heart defects
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20. Physiotherapy and Down Syndrom Holistic View
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Ø Children with Down syndrome typically face delays in certain areas
of development, so early intervention is highly recommended.
Ø It can begin anytime after birth, but the sooner it starts, the
better.
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21. Indication
Depends on
ØFunctional restrictions
ØMotor and functional optimal reachable perspective
ØDegree in which effectiveness is restrained
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22. Goal
qThe Goal of physical therapy for these children is to facilitate the development
of optimal movement patterns
ü This means that over the long term, you want to help the child develop good
posture, proper foot alignment, an efficient walking pattern, and a good
physical foundation for exercise throughout life.
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23. rEaChinG anD GraSpinG
qDelayed rather than different
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24. Gait
qLess ability to control anti-gravity movements of the lower extremity
qDifficulties in adjusting head position in space
qPelvic and hip instability
qReduced plantarflexion moment of force and power generation
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25. phySiothErapy For thE younG ChilD with DS
qFocus on individual development potential
qFamily centred
qCorresponding with cognitive age
qMeaningful, functional situation that correspond with the world of the
child
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26. phySiothErapy For thE younG ChilD with DS
qFormulate a problem specific motor intervention
- specific physiotherapy
- parent participation
qStimulate the development of posture and then stimulate motor
behaviour
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27. traininGS
Ø Swimming program therapy
Ø Strength and balance training
Ø Treadmill training
Ø Core Stability Training
Ø Weight Bearing Exercises
Ø Cardiovascular Exercise And others…
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28. importanCE oF parEnt partiCipation
qDevelopment takes time
qNeeds practice and repetition
qTreatment is functional
qPlay and care taking
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29. liFESpan manaGEmEnt
qGreater emphasis on physical fitness may increase
cardiopulmonary endurance and muscular strength
üStart at primary age
üWith help of parents, special educators
üGeneral goal: encourage commitment to welness by
endurance training and overall fitness
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30. mortality
qMost likely cause of death is CHD, Hypothyroidism
and Leukemia.
qImproved survival is because of changes in treatment
for common causes of death.
qSurvival is better for males and blacks.
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(Chunxiao Li,2013)
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32. ØDiagnosis
ØTypes
ØPathophysiology
ØClinical Presentation and Progression
ØPhysical Therapy Intervention
Outlines
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33. • Muscular Dystrophy describes a group of muscle diseases that are
genetically determined and have a steadily progressive degenerative course.
• Dystrophies are categorized by the deficiency of proteins that characterize
their disorder
• Proteins gives stability to the muscle cell membrane
(dystrophin–glycoprotein complex (DGC)
Diagnosis
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34. Epidemiology
Ø MD can occur at any age, most in childhood
Ø Duchenne MD is the most common type of MD
Ø The incidence of DMD globally is every 1/3500 male
Ø In the UK, about 100 boys are born with DMD each year, and there are
about 2,500 boys living with the condition at a time.
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35. Ø Duchenne Muscular Dystrophy
Ø Facioscapulohumeral Muscular Dystrophy
Ø Myotonic Dystrophy
Ø Becker Muscular Dystrophy
Types of muscular dystrophy
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36. • Becker Muscular Dystrophy ;
– 1 in 18,000 – 1 in 31, 000
– Learn to walk later
– Experience muscle cramps when exercising
• Myotonic Dystrophy
– 1 in 8000
– Muscle stiffness
– Clouding of the lens in the eye
– Excessive sleeping or tiredness
– Swallowing difficulties
– Behavioral and learning disabilities
– Slow and irregular heartbeat
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37. • Facioscapulohumeral Muscular Dystrophy
– 1 in 7,500
– Sleeping with eyes slightly open
– Cannot squeeze eyes shut tightly
– Cannot purse their lips
• Duchenne Muscular Dystrophy
– 1 in 3,500
– Difficulty walking, running or jumping
– Difficulty standing up
– Learn to speak later than usual
– Unable to climb stairs without support
– Can have behavioural or learning disabilities
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38. DMD
Ø Duchenne muscular dystrophy(DMD), also known as pseudo
hypertrophic muscular dystrophy or progressive muscular dystrophy,
Ø It is a serious condition which starts in early childhood.
Ø The muscle weakness is not noticeable at birth, even though the child is
born with the gene which causes it.
Ø The weakness develops gradually, usually noticeable by the age of
three.
Ø Symptoms are mild at first, but become more severe as the child gets
older.
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39. Ø The child becomes weaker and usually dies of respiratory
insufficiency and/or heart failure due to myocardial involvement
in the second or third decade of life.
Ø There is an X-linked inheritance pattern to DMD whereby male
offspring inherit the disease from their mothers, who are most
often asymptomatic
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40. Cause
ØThe cause is a genetic change which affects the muscles.
ØMuscles contain a protein (chemical) called dystrophin, which
is necessary for muscles to function properly.
ØPeople with DMD have a shortage of dystrophin in their
muscles.
Ø The lack of dystrophin leads to muscle fibre damage and a
gradual weakening of the muscles.
ØThe shortage of dystrophin is caused by a faulty gene.
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41. Ø Muscle weakness
Ø Difficulty walking
Ø Frequent falling
Ø Pseudo hyperthrophy of cuff muscle
Ø Proximal muscles Weakness---- exaggerated lumbar lordosis ----
waddling gait
Ø Difficulty standing from the floor squatting
Ø Developmental delay
Clinical features (start around 2 yrs)
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42. “Gower’s sign
Pseudohypertrophy of the calf
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43. so far ,Proactive –based symptom Multi disciplinary team
child will be well no need to treatment –advise
about the disease progression
supportive devise for leg and ankle
wheelchair
prevention of chest infections and
Ventilation
Management
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44. Physiotherapy Approach to DMD
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45. Assessments
Ø Range of motion (ROM)
Ø Postural alignment
Ø Developmental/functional status
Ø Muscle power (MMT)
Ø Gait
Ø Respiratory status
Ø Child and family's understanding of diagnosis
Ø Child and caregiver's inputs and concerns
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46. PT management
Ø Different types of rehabilitation needed through life
Ø Delivered mainly by physiotherapists and occupational therapists, but others may
be involved
ü Rehabilitation specialists
ü Orthotists
ü Providers of wheelchairs/other seating
ü (Potentially) orthopaedic surgeons
Ø Key: management of muscle extensibility and joint contractures
Ø Stretching aims to preserve function and maintain comfort
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47. Contractures
• Factors contributing towards contractures:
– Muscles becoming less elastic due to limited use/positioning
– Muscles out of balance around the joint
• Maintaining good range of movement and symmetry is important
– Maintains best possible function
– Prevents development of fixed deformities
– Prevents pressure problems with the skin
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48. Management of muscle extensibility and joint
contractures
Ø Stretching should be performed at least 4-6 times a week as part of
family’s daily routine
• Effective stretching may require a range of techniques including
• stretching,
• splinting, and
• standing devices
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49. Splints
• Night splints (ankle-foot
orthoses/AFOs) can help
control ankle contractures
– After loss of ambulation,
daytime splints may be
preferred
– Daytime splints not
recommended for ambulant
Long-leg splints (knee-ankle-
foot-orthoses) may be useful at
stage when walking is becoming
very difficult or impossible
Can help control
joint tightness,
prolong ambulation, and
delay the onset of scoliosis
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50. Strengthening exercises
Ølong periods of rest and immobility should be avoided, even
during periods of illness because functional losses can occur
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51. Wheelchairs, seating and assistive equipment
• Early ambulatory phase
– Wheelchair may be used for long distances to conserve strength
– posture is important: customisation of chair normally necessary
• With increased difficulty walking, provision of powered wheelchair is
recommended
– This should be adapted/customised for comfort, posture and symmetry
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52. – As the diaphragm, trunk, and abdominal muscles weaken, ability
of the patient to effectively clear secretions decreases.
RESPIRATORY CONSIDERATIONS
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53. Five major goals of management common to all children with DMD:
1. Prevent deformity
2. Prolong functional capacity
3. Improve pulmonary function
4. Facilitate the development and assistance of family support and support
of others
5. Control pain, if necessary
Physiotherapy management (summery)
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THANK YOU!