Down SyndromeRismarini

IntroductionDown Syndrome (DS) has recognizable physical characteristics and limited intellectual functioning due to the presence of an extra chromosome 21 or part thereof

EpidemiologyIncidence : 1 in 800 1200 live birthsSlight decrease of the insidence of llive born children due to the utilization prenatal diagnosis, and the subsequent termination of pregnancyHigher prevalence because of an increased life expectancy

GeneticsThere are 3 main types of abnormalities in DS

Trisomy 21 (93-95%)Translocation (4-6%)Mosaicism (1-3%)

EtiologyMany etiologies of DS have been positedHistorically syphillis & tuberculosisRadiation, Viral infectionGenetic predispositionsAutoimmunityAdvanced maternal age

Clinical manifestation DS usually suspected at birth because of teh babys facial appearance. The characteristics of DS are :Oblique palpebral fissureEpicanthal foldIncrease interpupilary distanceHypoplastic noseFlattened occiput

Small earLow ear setMouth keep openProtruding tongueIncreased neck tissueShort, stubby handsHypotoniaSingle palmar creaseWide space between 1st and 2nd toes

Making the diagnosisSign and symptoms

Cytogenetics, the extra chromosome 21 may result from non-disjunction, translocation, or mosaicism

Differential diagnosisCongenital hypothyroid

Neonatal medical problemsCongenital heart diseases (4-45%) VSD, TOF, PDA, ASDAnomalies of the GI tract (10-12%)Tracheoesophageal fistula, esophageal atresia, pyloric stenosis, duadenal atresia, aganglionic megcolon, imperforate anusCongenital cataracts (3%)

Medical problems during childhoodNutritional aspects feeding problems and poor weight gainInfectious diseases respiratory infections, otitis media, skin infectionsDental concerns tooth eruption, tooth shape, absence or fusion of teeth, gingivitis, periodontitis

Visual impairment strabismus, nystagmus, refractive errorsAudiologic disfunctionsSeizure disordersSleep apneaThyroid dysfunctionOrthopaedic problemsDermatological concernsHematological diseases leukemia

ManagementTreatmentThere is no cure DSEducationEarly intervention programsPreschool nurserySpecial education strategies

PrognosisWith appropriate education many children of DS will be able to function well in societyThere may be medical problems during adulthood, such as early onset of Alzheimers diseaseThe average life expectancy is about 50 yr