IAP UG Teaching slides 2015-16 DOWNS SYNDROME IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 PRESENTATION OUTLINE Overview Cytogenetics Clinical features Associated abnormalities Management Prognosis Prenatal diagnosis Counselling IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 OVERVIEW The commonest chromosomal disorder Frequency – 1: 800 to 1:1000 newborns Extra chromosome 21 Usually maternal Risk higher in older mothers Due to longer exposure of oocyte to environment Maternal Age 15-29 yrs. 30-34 yrs. 35-39 yrs. 40-44 yrs. After 45 yrs. Risk 1: 1550 1: 800 1:270 1:100 1:50 IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 CYTOGENETICS Trisomy 21- 94% ( maternal non-dysjunction) Mosaic - 1% Translocation 5%- Usually 21 and 14 Karyotyping of parents needed only if child has translocation IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 TRISOMY IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 TRANSLOCATION IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 CLINICAL FEATURES Mental and physical retardation Flat facial profile Upward slant of eyes and epicanthic folds Oblique palpebral fissures when eyes are open Small nose ,flat nasal bridge Oral cavity: narrow, short palate / small teeth / furrowed protruding tongue Hypotonia IAP UG Teaching slides 2015-16

CLINICAL FEATURES (CONT.) Skull – small and brachycephalic with flat occiput. Small and dysplastic ears Short and broad hands Clinodactyly Simian crease Wide gap between the first and second toe – sandal gap IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 SIMIAN CREASE IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 SANDAL GAP IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 BRACHYCEPHALY Flat occiput Normal IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 SCROTAL TONGUE IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 ASSOCIATED FEATURES IAP UG Teaching slides 2015-16

CONGENITAL HEART DISEASEE Seen in approx 40% Endocardial cushion defect – 40 to 60 % Is a significant factor determining survival All children should undergo echocardiography. IAP UG Teaching slides 2015-16

GASTROINTESTINAL MALFORMATIONS Duodenal atresia – 12% of cases Increased risk of annular pancreas Hirschsprungs disease. IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 OPHTHALMIC PROBLEMS Increased risk of Cataract Nystagmus Squint Abnormalities of visual acuity Routine evaluation to be done in infancy and then yearly IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 HEARING DEFECTS Conductive hearing loss in 40 to 60% Prone to serous otitis media Routine evaluation before 6 months and yearly there after IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 THYROID DYSFUNCTION Hypothyroidism - 13 - 54% TFT (T3 ,T4, TSH) recommended once in neonatal period or at first contact and then every year. Should include antithyroid antibodies In older children etiology - autoimmune. IAP UG Teaching slides 2015-16

ATLANTO-OCCIPITAL SUBLUXATION Reported in 10 to 30% of cases Lateral neck radiograph is recommended between 3 and 5 years, before surgery, participation in special games, or earlier if signs and symptoms s/o cord compression. IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 PHYSICAL GROWTH Regular follow up for height and weight Linear growth is retarded as compared to normal children Tend to become obese with age Muscle tone improves with age Rate of developmental progress slows with age IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 MALIGNANCIES Increased risk of developing lymphoproliferative disorders – ALL,AML, Myelodysplasia and transient Lymphoproliferative synd. IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 MANAGEMENT Early stimulation Physiotherapy Speech therapy Treatment of associated problems LRTI Chronic rhinitis, conjunctivitis ,periodontal diseases IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 PROGNOSIS Happy friendly children Good sense of rhythm , enjoy music. Social performance beyond that for mental age. The major cause of early mortality is CHD -50% die in infancy. LRTI pose a threat to life. Hematological malignancies are another cause of increased mortality. IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 PRENATAL DIAGNOSIS Initial screening with serum markers Triple / quadruple tests - Low maternal serum alpha-fetoprotein - elevated (hCG) - low unconjugated estriol (uE3) - Inhibin A - high Screening USG Diagnostic : fetal karyotype - CVS /amniocentesis IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 USG MARKERS In the second trimester Absent or hypoplastic nasal bone Thickened nuchal fold Echogenic bowel Shortened long bones Pyelectasis Duodenal atresia or stenosis (double-bubble sign) Cardiac defects IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 RISK OF RECURRENCE Women ≤ 35 yrs, one child with Down - 1% risk Risk increases if mother is older. Translocations inherited from mother - risk 10% 4-5% when father is the carrier. Balanced translocation 21 ; 21- 100% recurrence IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 COUNSELLING With tact, compassion and truthfulness. ASAP after the diagnosis is confirmed. In presence of both the parents in privacy In simple and positive language giving hope Allow sufficient time for questions Discuss known associated disorders Highlight the importance of early stimulation Recurrence risk and prenatal diagnosis IAP UG Teaching slides 2015-16

IAP UG Teaching slides 2015-16 THANK YOU IAP UG Teaching slides 2015-16