X:VIMSUPDATES 6AprilNew IAP UG Teacing Module 2016Backup ... · • Good sense of rhythm , enjoy music. • Social performance beyond that for mental age. • The major cause of early

IAP UG Teaching slides 2015-16

DOWNS SYNDROME

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PRESENTATION OUTLINE

• Overview• Cytogenetics• Clinical features• Associated abnormalities• Management• Prognosis• Prenatal diagnosis• Counselling

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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

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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


CYTOGENETICS

• Trisomy 21‐ 94% ( maternal non‐dysjunction)• Mosaic ‐ 1%• Translocation 5%‐ Usually 21 and 14• Karyotyping of parents needed only if child has translocation

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TRISOMY

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TRANSLOCATION

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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

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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

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IAP UG Teaching slides 2015-16 9


SIMIAN CREASE

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SANDAL GAP

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BRACHYCEPHALY

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Flat occiput Normal

IAP UG Teaching slides 2015-16 13


SCROTAL TONGUE

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ASSOCIATED FEATURES

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CONGENITAL HEART DISEASEE

• Seen in approx 40% • Endocardial cushion defect – 40 to 60 %• Is a significant factor determining survival• All children should undergo echocardiography.

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GASTROINTESTINAL MALFORMATIONS

• Duodenal atresia – 12% of cases• Increased risk of annular pancreas• Hirschsprungs disease.

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OPHTHALMIC PROBLEMS

Increased risk of• Cataract• Nystagmus• Squint• Abnormalities of visual acuity• Routine evaluation to be done in infancy and then yearly

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HEARING DEFECTS

• Conductive hearing loss in 40 to 60% • Prone to serous otitis media• Routine evaluation before 6 months and yearly there after

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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.

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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.

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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

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MALIGNANCIES

• Increased risk of developing lymphoproliferative disorders – ALL,AML, Myelodysplasia and transient Lymphoproliferative synd.

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MANAGEMENT

• Early stimulation• Physiotherapy• Speech therapy• Treatment of associated problems• LRTI• Chronic rhinitis, conjunctivitis ,periodontal diseases

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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.

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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

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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

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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

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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

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THANK YOU

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Documents

X:VIMSUPDATES 6AprilNew IAP UG Teacing Module 2016Backup ... · • Good sense of rhythm , enjoy music. • Social performance beyond that for mental age. • The major cause of early