PHYSIOTHERAPY MANAGEMENT IN DOWN SYNDROM

PHYSIOTHERAPY MANAGEMENT IN DOWN SYNDROME

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 . 16 th 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).

6. 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.

7. 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.

8. 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).

9. 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.

10. 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 .

11. 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.

12. CLINICAL FEATURES

13. COMPLICATIONS

14. 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

15. 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

16. 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 .).

17. 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?

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

19. 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.

20. 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

21. 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

22. 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

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

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

25. 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

26. 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

27. 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.

28. 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.

29. 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

30. 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.

31. THANK YOU