1. TRISOMY 21- DOWN SYNDROME
Dr. Gupta
PL-II
Medical ppt

2. Approximately one in 1000 live births.
Incidence
Approximately one in 1000 live births.

3. Genetics
Trisomy 21 (47, +21), - 94 %, The frequency of trisomy increases with increasing maternal age.
Robertsonian translocation involving chromosome 21- Approx. 3-4 %, not related to maternal age.
Trisomy 21 mosaicism – 2 to 3 % cases

8. Clinical Features Extremities Head and neck Brachycephaly
Up-slanting palpebral fissures
Epicanthal folds
Brushfield spots
Flat nasal bridge
Folded or dysplastic ears
Open mouth
Protruding tongue
Short neck
Excessive skin at the nape of neck
Extremities
Short broad hands
Short fifth finger
Incurved fifth finger
Transverse palmer crease
Space between first and second toe
Hyper flexibility of joints

11. Neonatal features Flat facial profile Poor Moro reflex
Excessive skin at the nape of neck
Slanted palpebral fissures
Hypotonia
Hyper flexibility of joints
Dysplasia of pelvis
Anomalous ears
Dysplasia of midphalanx of fifth finger
Transverse palmer crease

13. Mental Retardation Almost all DS babies have MR.
Mildly to moderately retarded .
Starts in the first year of life.
Average age of sitting(11 mon), and walking (26 mon) is twice the typical age.
First words at 18 months.
IQ declines through the first 10 years of age, reaching a plateau in adolescence that continues into adulthood.

14. Heart Disease 50 % of Down Syndrome pts have heart disease
Atrioventricular septal defect
VSD
Secundum ASD
PDA
Tetrology of Fallot
Mitral valve prolapse
AR, MR

15. GI abnormalities 5% of cases
Duodenal atresia or stenosis, sometimes assoc with annular pancreas in 2.5 % of cases
Imperforate anus
Esophageal atresia with TE fistula is less common
Hirschsprung’s disease
Strong assoc with celiac disease b/w 5 – 16 % , 5 – 16 fold increase as compared to general population

16. Growth BW, length and HC are less in DS Reduced growth rate
Prevalence of obesity is greater in DS
Weight is less than expected for length in infants with DS, and then increases disproportion ally so that they are obese by age 3-4 yrs

18. Eye problems Most common disorders are
Refractory error – 35 to 76 percent
Strabismus – 25 to 57 percent
Nystagmus – 18 to 22 percent
Cataract occur in 5 % of newborns.
Frequency increases with age.

19. Hearing loss Unilateral or bilateral
Conductive, sensorineural or mixed
Otitis media is a frequent problem

20. Hematologic disorders
The risk of leukemia is 1 to 1.5 percent.
65% of newborn have polycythemia resulting in hypoglycemia.
Risk of AML and ALL is also much higher than the general population.
Transient leukemia – exclusively affects NB.
- It is asymptomatic with spontaneous resolution in 2-3 months.
- Vesiculopustular skin eruptions are common and resolve with disorder.

21. Endocrine disorder
Thyroid disease – Hypothyroidism occurs more frequently than hyperthyroidism.
Diabetes – The risk of type 1 diabetes is three times greater than that of the general population.

22. Reproduction Women with DS are fertile and may become pregnant.
Nearly all males with DS are infertile. The mechanism is impairment of spermatogenesis

23. Atlantoaxial instability
Excessive mobility of atlas (C1) and the axis (C2), may lead to subluxation of the cervical spine.
Diagnosis made by lateral neck radiograph.
Patients are advised to avoid contact sports.

24. Sleep apnea
Obstructive sleep apnea is more common.

25. Skin disorder Palmoplantar hyperkeratosis Seborreic dermatitis
Fissured tongue
Cutis marmorata
Geographical tongue
Xerosis

26. Diagnosis Prenatal screening
If no screening – It is recognized from the characteristic phenotypic features.
Confirmed by Karyotype.

27. Management
1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS.
This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism.
2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist.
3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.

28. Management (cont.)
4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts.
5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually.
6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.

29. Management ( cont)
Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC.
Atlanto-axial instability – X ray for evidence of AAI or sub-luxation at 3 to 5 years of age.
Alzheimer’s disease – Adult with a Down Syndrome has earlier onset of symptoms. When diagnosis is considered, thyroid disease and possible depression should be excluded.

30. Mortality
Median age of death has increased from 25 yrs in 1983 to 49 yrs in 1997, an average of 1.7 yrs increase per year.
Most likely cause of death is CHD, Dementia, Hypothyroidism and Leukemia.
Improved survival is because of increased placements of infants in homes and
changes in treatment for common causes of death.
Survival is better for males and blacks.

31. Counseling May begin when a prenatal diagnosis is made.
Discuss the wide range of variability in manifestation and prognosis.
Medical and educational treatments and interventions should be discussed.
Initial referrals for early intervention, informative publications, parent groups, and advocacy groups.

32. Medical ppt