Down syndrome is a genetic disorder which is associated of mental retardation and intellectual disabilities The physiotherapy can help to manage of children with down syndrome

1. DOWN SYNDROME
Dr. KRATI OMAR
M.P.T. (pediatric disorder)
MMIPR, MMDU Mullana

2. BACKGROUND
• Down syndrome is a genetic disorder which is
associated of mental retardation and
intellectual disabilities
• The physiotherapy can help to manage of
children with down syndrome

3. INTRODUCTION
• Down syndrome is a genetic disorder that occurs
when an individual has an extra complete or partial
copy of chromosome 21
• Down syndrome is most common chromosomal
disorder that is cause of major mental retardation
and intellectual disability

4. Continued…..
• Down syndrome is commonly caused by 21
chromosome that’s why it is known as TRISOMY 21
• In previous time, down syndrome is also known as
MONGOLISM
• About one in 150 live-born infants have a detectable
chromosomal abnormality

5. CONTINUED….
• Trisomies 21, 18, and 13 are the most frequently
occurring trisomies
• Few children with trisomy 18 and 13 survive beyond
1 year of age
• Trisomy 21 occurs in approximately one in every 740
live births,

6. HISTORY
• Down syndrome was described by JOHN LANGDON
DOWN in 1866
• Almost after 100 year in 1959 it was discovered the
disease, that actual it happen the presence of extra
copy of 21 chromosome

7. PATHOPHYSIOLOGY
• Down syndrome is caused by an over expression of
genes on human chromosome 21

8. INCIDENCE
• In the United States the incidence of Down
syndrome increases with advanced maternal
age
• Males are diagnosed more than females
especially in the mild range (a ratio of 1.6:1)

10. CLINICAL FEATURES
Cardiovascular:-
• Endocardial cushion defect
• Atrial septal defect (ASD)

11. Continued…
• Pulmonary hypertension
• Ventricular septal defect

12. Musculoskeletal:-
• Joint hyperflexity
• Short neck
• Short metacarpals and phalanges
• Short 5th digit
• Single transverse palmer creases
• Saddle gap
• Short sternum

13. Beighton score

15. Head :-
• Separated sagittal suture
• Skull rounded and small
• Flat occiput
• Enlarged anterior fontanel

16. Other clinical features
• Flattened face and nose
• Upward slant of the eyes
• Poor muscle tone
• Mental retardation
• Small mouth sometimes with larger tongue
• Abnormally shaped ears
• White spots in the iris

18. SIGN AND SYMPTOMS
• Repetitive motor behavior
• Repetitive language challenges
• Picky eater
• Increase anxiety
• Self injurious
• Sensory sensitivities
• Low IQ

19. DIAGNOSIS
• Diagnosis is confirmed by the presence of
characteristic physical features present in the infant
at birth
• Down syndrome is the most common chromosomal
cause of moderate to severe intellectual disability.

20. ASSESSMENT OF INTELLECTUAL
FUNCTIONING
• Intellectual functioning help to assess the
administration of a standardized intelligence test
• Intelligence test is done by clinical psychologist or
trained school
• This have two or more standard deviations
• Normal IQ – 70 or 75 /100

21. Scales for intellectual functioning
assessment
• Stanford Binet Intelligence Scale
• Wechsler Intelligence Scales for children-IV
• Wechsler Preschool and Primary Scale of
Intelligence-III
• Kaufman Assessment Battery For Children

22. Stanford-Binet Intelligence Scale
• The Stanford- Binet Intelligence Scale (SBIS) fourth
edition is a standardized test that measure
intelligence and cognitive abilities in children and
adults from age two through mature adulthood
• The SBIS is generally administered in a school or
clinical settings

23. Purpose:-
• SBIS is assess in the diagnosis of a learning disability,
developmental delay, mental retardation
• This scale is used to provide educational planning
and placement neuropsychological assessment and
research

26. Stanford-Binet Intelligence Scale
Genius Over 140
Very Superior 120-139
Superior 110-119
Average 90-109
Dull 80-89
Borderline deficiency 70-79
Moron 50-69
Imbecile 20-49
Idiot Below 20

27. Wechsler Intelligence Scales for children-IV
• The Wechsler Intelligence Scales for Children- IV
(WISC) were developed by Dr. David Wechsler, a
clinical psychologist
• This scale was published in 1939 and was desgined to
measure intellectual performance by adults

28. WISC-IV:-
• This scale for measure a child’s intellectual ability and
cognitive test
• Age range- 6 years to 16 years and 11 month
• Completion time- core subtests 60-90 min.

30. Wechsler Preschool and Primary Scale of
Intelligence-III (WPPSI)
• The WPPSI is an intelligence test designed for
children
• The WPPSI was developed by David Wechsler
in 1967
• Original publication the WPPSI has been
revised three times in 1989, 2002, and 2012

31. Continued…
• Age range: children 2 year 6 month to 7 year 7
month
• Completion time:
age 2:6 to 3:11 = 30 to 40 min.
age 4:0 to 7:3 = 45 to 60 min.
• Scoring option: manual scoring

32. History:-
• The original WPSSI was developed as an intelligence
measure for 4 to 6 year 6 month olds in response to
an increasing need for the assessment of preschool

33. Kaufman Assessment Battery For Children
• The K-ABC is a standardized test that assess
intelligence and achievement in children
• This edition is published in 1983 by Kaufman
• The KABC is a clinical instrument for assessing the
cognitive development
• Reliability: .59 to .98

34. Continued…
• Age range: 3 year to 18 year
• Completion time:
22 to 55 min.(core battery, Luria model)
35 to 70 min.(core battery, CHC model)
• Score/interpretation: age based standard score, and
percentile ranks
• Scoring option: manual scoring

35. Purpose:-
• The K-ABC was developed to evaluate preschoolers,
minority groups, and children with learning
disabilities
• This scale is used to provide educational planning
and placement, neurological assessment and
research

37. Kaufman Test
Range of standard score Name of category
131-160 Upper extreme
116-130 Above average
85-115 Average range
70-84 Below average
40-69 Lower extreme

38. ASSESSMENT OF ADAPTIVE SKILL
LEVEL
• For a diagnosis of mental retardation, assessment of
adaptive skill level is required
• Adaptive skills may be in marked contrast to a child’s
higher ability to perform in one-on-one teaching
situation or in highly structured behavior program

39. For assess adaptive skills its have some
following areas which are:
• Communication
• Self-care
• Home living
• Social skills
• Community use
• Self-direction
• Work
• Health and safety
• Functional academics

40. Scales for assessment of adaptive skill level
• Vineland Adaptive Behavior Scales (VABS)
• American Association on Intellectual Disabilities
Adaptive Behavior Scales

41. Vineland Adaptive Behavior Scales (VABS)
• VABS is measure of adaptive behavior from birth to
adulthood
• VABS is dealing with constant observation, early
interventions, and countless forms of screening and
diagnostic process in children with down syndrome
• Age range: birth to 90

42. Domains and Index Sub domain
Communication Receptive
Expressive
Written
Daily living skills Personal
Domestic
Community
Socialization Interpersonal relationship play and
leisure time copying skills
Motor skills Fine
Gross
Maladaptive behavior index Internalization
Externalization
others

43. American Association on Intellectual
Disabilities Adaptive Behavior Scales
• Mental retardation is defined by the AAIDD
• Intellectual disabilities covers a range of every
day social and practical living skills with onset
before 18 year of age

44. Classification
Intellectual disabilities include:-
• Capabilities
• Environment
• Functional limitations
• Participation restriction

45. Educational classification
• Current education working to improve the
intellectual disabilities and the need for supports
• Contemporary educational placement terms follow a
more functional approaches

46. educational classification depending on the child
priority needs such as:
• Autistic support
• Learning support
• Life skills support
• Emotional support
• Visual support
• Hearing support
• Language support
• Physical support
• Multiple disabilities
support
• Speech support

47. Medical classification
• Medical classification had been correlated with IQ
scores
• Medical classification using a range of mild,
moderate, severe, and profound

48. Primary impairments
• Neuromuscular Impairments:-
Intellectual disabilities have combined with
• neuromuscular impairments
• musculoskeletal impairments
• cardiopulmonary impairments

49. Learning Impairment:-
• Intellectual disabilities in children have learning
impaired
• who demonstrate an impaired ability such as
 utilize advanced cognitive process
 Manage simultaneous
 Multiple demands
 Successfully organize complex information

50. Sensory Assessment and Intervention
• Visual
• Auditory
• Tactile
• Vestibular
• Self stimulation

51. Visual
Visual sensation is help to noted the child ability such
as
• Orient
• focus on
• track a visual stimulus

52. Auditory
• Auditory stimuli is absence of response, to
simple commands, orientation etc.
• Audiologic testing can be used to identify a
hearing loss

53. Auditory therapy
• Auditory stimulation therapy is the use of focused
sounds to produce an effect on the nervous system
• This sort of stimulation can be used as a part of
sensory therapy in people with disabilities

54. Auditory therapy

55. Tactile
• Tactile sensation can help children gain awareness of
their bodies and are useful for helping children learn
to move and manipulate their body and hands in
coordinated , planned manner

56. Activities rich in tactile sensation
• Finger painting
• Messy play with hand
• Find hidden objects
• Water play with water
balloons
• Write and color with
vibrating pen
• Participate in climbing
• Play in sand box
• Use cardboard boxes
• Climbs on boll, mats,
rock wall, table and chair
• Jump on trampoline
• Ride a scooter

57. Vestibular
• Vestibular is early symptoms in child with down
syndrome
• The tracts within the vestibular system are fully
myelinated by 20 weeks of gestation

58. Activities rich in Vestibular sensation
• Swinging activity
• Sliding activity
• Roll on bounce on big balls
• Ride a scooter
• Use rocking horse/rocking chair

59. Vestibular therapy

60. Self stimulation
• Constant mouthing of objects or the hand
• Spinning
• Head banging
• Hand or arm flapping
• Teeth grinding
• Self biting

61. Memory
• Child with intellectual disabilities in down
syndrome is involved short term memory
• Short term memory problem can be overcome
by repetitions

62. Transfer of learning
• Transfer of learning is the ability to learn new
components that are similar to those of
material which we learn

63. Management of child with DS
• Physiotherapist should be manage some conditions
such as:
 Neuropathology
 Sensory Deficits
 Cardiopulmonary pathologies
 Musculoskeletal Differences

64. Neuropathology
• Neuropathology in down syndrome is the presence
of a specific amyloid -protein in the brain
• Patient with down syndrome brain weight have 76%
of normal
• Combined weight of the cerebrum and brainstem
being even smaller 66% of normal

65. Sensory Deficits
• Sensory impairments and health concerns, visual
impairment and poor dental health and acute
neurological disease were associated with the
severity of intellectual disabilities

66. Cardiopulmonary Pathologies
• Children with down syndrome 40% born with
congenital heart defects
• Child with down syndrome have low rate of
cardiovascular disease

67. Musculoskeletal Differences
• Child with down syndrome born with many
musculoskeletal problems
 Hyperflexity
 Short neck
 Short metacarpals

68. Physical therapy assessment
• Learning difference
• Associated Motor Deficits
• Developmental Delay

69. Physical Therapy Evaluation and
Intervention Implication
• Teaching the caregiver for appropriate
positioning
• Designing the activities
• Encourage for dynamic movements
• Facilitating the emergence of developmental
milestone

70. Musculoskeletal problems
• Ligamentous laxity
• Hip instability in lower extremities
• Scoliosis

71. Treatment in Down Syndrome
• Improve functional activity
• Improve learning impairments
• Focus on endurance training
• Speech therapy
• Occupational therapy
• Play therapy
• Music therapy

72. References
• UMPHRED”S Neurological rehabilitation, Sixth
edition
• Jan S. Tecklin Pediatric physical therapy, Fifth edition
• Dr.V.C.Jacob NeuroRehabilitation, A Multidisciplinary
Approach

73. SUMMARY
• Understanding the primary pathologies
• Our aim is work on sign and symptoms
• Effective physical therapy management of the child
through the life span can anticipate secondary
deformities and risk for the child

74. THANK YOU