1. PHYSIOTHERAPY INTERVENTION IN
DOWN SYNDROME (DS)
(Trisomy 21)
Presented
By
PT. ISMAILA MUHAMMAD BINJI
Department of Physiotherapy
Pediatric unit
Usmanu Dan Fodio University Teaching Hospital Sokoto.
16th june, 2023.

2. OUT LINE
Introduction
Definition
Pathophysiology
Epidemiology
Aetiology
Risk factors
Types of DS
Clinical features
Complications
Assessment
Management
Conclusion
Recommendation
References

3. INTRODUCTION
Down syndrome is a genetic condition that causes mild to
serious physical and developmental problems.
Down syndrome is a lifelong condition. Although it can’t be
cured, when a child has it, getting the right care early on can
make a big difference in helping them live a full and meaningful
life. it was named after a physician called ‘’John Langdon Down’’
in 18th century.
(Malak R, kostiukow., et al 2018)

4. DEFINITION
According to CDC (centers for disease control and prevention
UK). Down syndrome is define as a condition in which a person
has an extra chromosome.
(Cho SJ, Aggarwal D., et al 2019).

5. PATHOPHYSIOLOGY
In every cell in the human body there is a nucleus, where genetic
material is stored in genes. Genes carry the codes responsible for
all of our inherited traits and are grouped along rod-like structures
called chromosomes. Typically, the nucleus of each cell contains
23 pairs of chromosomes, half of which are inherited from each
parent.
An extra copy of chromosome 21 is associated with Down
syndrome, which occurs due to the failure of chromosome 21 to
separate during gametogenesis resulting in an extra chromosome
in all the body cells
(Asim kumar ,.et al 2015).

7. EPIDEMIOLOGY
Down syndrome (or trisomy 21) is the most common genetic
cause of intellectual disability, According to the World Health
Organisation (WHO), Down Syndrome affects approximately 1
in 1,000 live births worldwide. In Nigeria, the prevalence rate
of Down syndrome is unknown due to a lack of data.

8. RISK FACTORS
Advancing maternal age: A women's chances of giving birth to
down syndrome child with age because older eggs have a
greater risk of improper chromosomal division
Having had one child with DS: Typically, women having one
child with DS has about 1% chance of having another baby
with DS.
Being carriers of the genetic translocation DS: Both men
and women can pass the genetic translocation DS on to
their child.

9. AETIOLOGY
The cause of the extra full or partial chromosome is
still unknown. Age is the only factor that has been
linked to an increased chance of having a baby with
Down syndrome resulting from nondisjunction or
mosaicism.
(De Graaf et al., 2022).

10. TYPES OF DOWN SYNDROME
THERE ARE THREE KNOWN TYPES OF DS
 NON-DISJUNCTION It’s the most common type of DS. This
type of DS occurs when there are three copies of
chromosome 21 in the fertilized egg. As the baby develops,
the extra chromosome gets copied into every cell in the body.

11.  TRANSLOCATION TRISOMY. About 4% of all people
with DS have translocation trisomy. In this type, part of
chromosome 21 breaks off during cell division of the
fertilized egg. It then attaches to another chromosome.
The chromosome total is still the expected 46, but the
extra part of chromosome 21 causes DS characteristics.

12.  MOSAIC TRISOMY 21 occurs in about 1% of persons with
Down syndrome. This type of DS develops when an error occurs
in one of the cell divisions of the fertilized egg. Not all cell
divisions are affected. Some of the baby's cells contain 46
chromosomes, which is typical, but others contain an extra copy
of chromosome 21. People with mosaic DS typically present with
fewer DS characteristics.

14. CLINICAL FEATURES

17. COMPLICATIONS

18. PHYSIOTHERAPY ASSESSMENT
Subjective Assessment
Comprehensive history taking.
 Review of complications of pregnancy and delivery. birth
weight, gestation, any neonatal and perinatal difficulties,
feeding problems, and other health related problems.
 Developmental milestones

20. Prenatal history
 Age of mother
 Any drug taken during pregnancy
 Any addiction-smoking or alcoholism
 History of previous abortions, still born or death after birth
 Multiple pregnancy

21. Perinatal History
 Place of delivery
 History of preterm or post-term delivery
 History of asphyxia at birth
 History of prolonged labour
 Type of delivery
 Presentation of the child
 Condition of mother at the time of delivery
(Khan el al,. 2022.).

22. Postnatal history
 Delayed birth cry.
 History of trauma to brain during the first 2 years of life
 History of neonatal meningitis, jaundice, hypoglycemia,
hydrocephalus or microcephaly.
 Any medical, surgical or physiotherapy treatment taken
before
 What treatment was used?

23. Objective assessment
 Sensory
 Motor integrity - tone, GMP, atrophy
 Reflex: rooting, Moro, tonic neck, grasp, stepping
 ROM.
 Anthropometric - Height, weight, Head circumference.

24. PT INTERVENTIONS
GOALS:- The goal of physical therapy for children with Down
syndrome is to correct harmful movement patterns while
increasing the child’s ability to function and move. Down
syndrome characteristics may include developmental delays,
poor posture, lax joints, scoliosis, and decreased muscle tone
and strength.

25. PT MANAGEMENT CONT....
NECK CONTROL EXERCISE.
At the age of 4 months
 Swiss ball therapy in prone position.
 applied tactile stimulation to trepezius and
sternocleidomastoid muscle

27. PT MANAGEMENT CONT....
ROLLING EXERCISE
At the age of 4 – 7 months
 Assist baby to roll over
 Encourage use of favorite toy
 Encourage a lot of tummy time
 Encourage play therapy when they are lying on their back

30. PT MANAGEMENT CONT....
SITTING EXERCISE
At the age of 6 - 9 months
To develop head control, strengthen trunk and back muscles,
and improve sitting ability.
 Sitting between PT thighs, reach out for toy
 Assisted Bridging
 Assisted Curl up
 Sitting Education

34. PT MANAGEMENT CONT....
CRAWLING EXERCISE
At the age of 6 - 12 months
Four point kneeling.
Quadruped reaching
Assisted crawling

37. PT MANAGEMENT CONT....
STANDING / SIT UP EXERCISE
At the age of 8 - 17 months
Partial sqaut
Standing education

39. PT MANAGEMENT CONT....
WALKING EXERCISE
At the age of 9 - 18 months.
To allow the child to experience shifting body weight on their
feet and develop balance control of the body and legs.
 Weight Shifting sideways to take a step
 Introduce walker for baby

42. PT MANAGEMENT CONT....
BALANCE AND CORDINATION EXERCISE
To further refine development of balance and
coordination
Encourage the child to try to step up and down
from something that is 1 to 2 inches high, before
trying on higher steps. Hold the child’s hand if
support is needed, but encourage the child do as
much as possible independently

44. CONCLUSION
A Down syndrome child will develop at his or her
own pace With supportive parents and
Physiotherapists, the child can have a rewarding
life like any normal child.

45. RECOMMENDATION
One of the biggest challenges facing people with Down
syndrome in Nigeria is the lack of awareness and
understanding of the condition. Many Nigerians do not
know what Down syndrome is, and those who do often
have misconceptions about the condition. our
responsibility as an individual is to ensure that people
with Down syndrome are not discriminated, and that
their rights are protected.

46. REFERENCES
 Pakistan Journal of Medical & Health Sciences
16 (10), 630-630, 2022
 Cho SJ, Aggarwal D, Kirby RS. National
population‐based estimates for major birth
defects, 2010–2014. Birth Defects Research.
2019
 Asim A, Kumar A, Muthuswamy S, Jain S,
Agarwal S. "Down syndrome: an insight of the
disease". J Biomed Sci. 2015 Jun

47. REFERENCES
• Bertapelli F, Machado MR, Roso RD, Guerra-Júnior G. Body
mass index reference charts for individuals with Down
syndrome aged 2-18 years. Jornal de Pediatria. 2017
Jan;93:94-9.
(Malak R, kostiukow., et al 2018)
• Styles, M.E., Cole, T.J., Dennis, J. and Preece, M.A., 2002.
New cross sectional stature, weight, and head
circumference references for Down's syndrome in the UK
and Republic of Ireland. Archives of disease in childhood,
87(2), pp.104-108.

48. THANK YOU