DOWN SYNDROME

21 Trisomy (Down Syndrome; Mangolism)

Extra 21 chromosome

Incidence – 1-800 live births (because of nondisjunction)

Increasing maternal age >30 yrs aging of oocyte.

Clinical Features

General Mental retardation; HypotoniaCranio-facies Flat occiput; Oblique palpebral fissures; Epicanthic folds; Speckled irides (Brushfield spots); Protruding tongue; Prominent malformed ears; Flat nasal bridge

Thorax Congenital heart disease, mainly

septal defect, especially of the endocardial cushion

Abdomen and pelvis Decreased acetabular and iliac

angles; Small penis; Cryptorchidism

Hands and feet Simian crease; Short, broad hands; Hypoplasia of middle phalanx of

5th finger; Gap between 1st and 2nd toes

Other features observed with significant frequency

High-arched palate; Strabismus; Broad, short neck; Small teeth; Furrowed tongue; Intestinal atresia; Imperforate anus; Hirschsprung disease

Grading of IQ

140 + Genius 120 – 140 Very superior 110 – 120 Superior 90 – 110 Normal 80 – 90 Dullard 70 – 80 Backward 50 – 70 Moran 25 – 50 Imbecile < 25 Idiot

BIOCHEMISTRYSECOND TRIMESTER (15-20 WKS) Alpha-fetoprotein (AFP) Human Chorionic Gonadotropin

(HCG) Estriol Inhibin A

FIRST TRIMESTER (9-14 WKS) Free beta HCG PAPP-A (Pregnancy Associated

Plasma Protein-A)

Diagnostic Tests During Pregnancy Genetic Amniocentesis Chorionic Villus Sampling (CVS) Percutaneous Umbilical Blood

Sampling (PUBS)

ManagementInfant stimulation programmes Multisensory stimulation –

cognition, emotion, physical Self-care activities Social skills Recreational activities Family therapy Future pregnancy risk Institutional care Parents organizations’ Benefits of yoga practice