trisomy21
DESCRIPTION
DOWNS SYNDROMETRANSCRIPT
![Page 1: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/1.jpg)
DOWNS SYNDROME
![Page 2: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/2.jpg)
GENETICS
![Page 3: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/3.jpg)
![Page 4: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/4.jpg)
MITOSIS
![Page 5: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/5.jpg)
![Page 6: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/6.jpg)
MEIOSIS
![Page 7: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/7.jpg)
TRISOMY 21
![Page 8: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/8.jpg)
![Page 9: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/9.jpg)
![Page 10: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/10.jpg)
JOHN LANGDON DOWN
![Page 11: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/11.jpg)
IncidenceIncidence
Approximately one in 1000 live births.
![Page 12: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/12.jpg)
Chromosomal basis of
DOWNS SYNDROME
![Page 13: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/13.jpg)
![Page 14: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/14.jpg)
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
![Page 15: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/15.jpg)
TRANSLOCATOIN
![Page 16: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/16.jpg)
CLINICAL FEATURES
![Page 17: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/17.jpg)
Facial expression
Flat facies
Upward slant of eyes
Epicanthal folds
Oblique palpebral fissure
Small nose
Flat nasal bridge
Protruding tongue
Narrow short palate
![Page 18: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/18.jpg)
![Page 19: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/19.jpg)
![Page 20: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/20.jpg)
![Page 21: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/21.jpg)
Brachycephaly
Flat occiput
![Page 22: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/22.jpg)
Small low set ears, dysplastic, abnormal alignment
![Page 23: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/23.jpg)
Brushfieldspots and cataract
![Page 24: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/24.jpg)
EXCESSIVE SKIN
![Page 25: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/25.jpg)
SHORT NECK
![Page 26: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/26.jpg)
![Page 27: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/27.jpg)
![Page 28: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/28.jpg)
ULNAR LOOPS
![Page 29: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/29.jpg)
![Page 30: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/30.jpg)
Sandle gap and increased creases
![Page 31: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/31.jpg)
![Page 32: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/32.jpg)
![Page 33: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/33.jpg)
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
![Page 34: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/34.jpg)
![Page 35: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/35.jpg)
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.
![Page 36: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/36.jpg)
![Page 37: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/37.jpg)
Investigations
Echo
ECG
Xray
chest
joints
![Page 38: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/38.jpg)
Investigations
OAE, BERA OPHTHALMIC EXAMINATION TSH USG ABDOMEN USG KUB KARYOTYPING
![Page 39: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/39.jpg)
PRENATAL SCREENING
![Page 40: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/40.jpg)
AMNIOCENTESIS
![Page 41: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/41.jpg)
CHORIONIC VILLUS SAMPLING
![Page 42: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/42.jpg)
PUBS
![Page 43: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/43.jpg)
USGUSG
![Page 44: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/44.jpg)
Maternal Serum Screening
AFP ESTRIOL HCG PAPP-A
![Page 45: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/45.jpg)
COMPLICATIONS
![Page 46: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/46.jpg)
Heart Disease
50 % o have heart disease Atrioventricular septal defect VSD Secundum ASD PDA Tetrology of Fallot Mitral valve prolapse AR, MR
![Page 47: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/47.jpg)
GI abnormalities
5% of cases Duodenal atresia or stenosis,annular pancreas in
2.5 % of cases Imperforate anus Esophageal atresia with TE fistula Hirschsprung’s disease celiac disease
![Page 48: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/48.jpg)
Growth
length and HC are LESS Reduced growth rate Prevalence of obesity is greater 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
![Page 49: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/49.jpg)
![Page 50: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/50.jpg)
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.
![Page 51: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/51.jpg)
Hearing loss
Unilateral or bilateral Conductive, sensorineural or mixed Otitis media is a frequent problem
![Page 52: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/52.jpg)
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.
![Page 53: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/53.jpg)
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.
![Page 54: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/54.jpg)
Reproduction
Women with DS are fertile and may become pregnant.
Nearly all males with DS are infertile. The mechanism is impairment of spermatogenesis
![Page 55: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/55.jpg)
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.
![Page 56: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/56.jpg)
![Page 57: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/57.jpg)
Sleep apnea
Obstructive sleep apnea is more common.
![Page 58: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/58.jpg)
Skin disorder
Palmoplantar hyperkeratosis Seborreic dermatitis Fissured tongue Cutis marmorata Geographical tongue Xerosis
![Page 59: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/59.jpg)
Management
1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS.
2. Cardiac disease
3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.
![Page 60: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/60.jpg)
Management (cont.)4. Eye disorders – to detect strabismus, nystagmus, and cataracts.
5. Thyroid Function –
6.Upper airway obstruction
![Page 61: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/61.jpg)
Management ( cont)7. Hematology – CBC with differential at birth to
evaluate for polycythemia as well as WBC.
8. Atlanto-axial instability – X ray for evidence of AAI or sub-luxation at 3 to 5 years of age.
9. 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.
![Page 62: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/62.jpg)
GI problems
Sexual problems
![Page 63: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/63.jpg)
![Page 64: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/64.jpg)
REHABILITATION
PHYSICAL THERAPY
OCCUPATIONAL THERAPY
SPEECH THERAPY
![Page 65: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/65.jpg)
MortalityMedian 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 andchanges in treatment for common causes of death.
Survival is better for males and blacks.
![Page 66: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/66.jpg)
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.
![Page 67: Trisomy21](https://reader034.vdocuments.mx/reader034/viewer/2022051610/549c484db47959a5318b46ef/html5/thumbnails/67.jpg)