Down Syndrome

Rismarini
 Introduction

 Down Syndrome (DS) has

recognizable physical characteristics
and limited intellectual functioning
due to the presence of an extra
chromosome 21 or part thereof
 Epidemiology
 Incidence : 1 in 800 – 1200 live
births
 Slight decrease of the insidence of
llive born children due to the
utilization prenatal diagnosis, and
the subsequent termination of
pregnancy
 Higher prevalence because of an
increased life expectancy
 Genetics
There are 3 main types of
abnormalities in DS

 Trisomy 21 (93-95%)
 Translocation (4-6%)

 Mosaicism (1-3%)
 Etiology
Many etiologies of DS have been
posited
 Historically syphillis & tuberculosis

 Radiation,

 Viral infection

 Genetic predispositions

 Autoimmunity

 Advanced maternal age

 Clinical manifestation
DS usually suspected at birth because
of teh baby’s facial appearance. The
characteristics of DS are :
 Oblique palpebral fissure

 Epicanthal fold

 Increase interpupilary distance

 Hypoplastic nose

 Flattened occiput
 Small ear
 Low ear set
 Mouth keep open
 Protruding tongue
 Increased neck tissue
 Short, stubby hands
 Hypotonia
 Single palmar crease
 Wide space between 1st and 2nd
toes
 Making the diagnosis
 Sign and symptoms

 Cytogenetics, the extra chromosome

21 may result from non-disjunction,
translocation, or mosaicism
 Differential diagnosis
 Congenital hypothyroid
 Neonatal medical problems
 Congenital heart diseases (4-45%)
– VSD, TOF, PDA, ASD
 Anomalies of the GI tract (10-12%)
– Tracheoesophageal fistula, esophageal
atresia, pyloric stenosis, duadenal
atresia, aganglionic megcolon,
imperforate anus
 Congenital cataracts (3%)
Medical problems during childhood
 Nutritional aspects  feeding
problems and poor weight gain
 Infectious diseases  respiratory
infections, otitis media, skin
infections
 Dental concerns  tooth eruption,
tooth shape, absence or fusion of
teeth, gingivitis, periodontitis
 Visualimpairment  strabismus,
nystagmus, refractive errors
 Audiologic disfunctions

 Seizure disorders

 Sleep apnea

 Thyroid dysfunction

 Orthopaedic problems

 Dermatological concerns

 Hematological diseases  leukemia

 Management
 Treatment

There is no cure DS
 Education
– Early intervention programs
– Preschool nursery
– Special education strategies
Prognosis
 With appropriate education many
children of DS will be able to function
well in society
 There may be medical problems
during adulthood, such as early
onset of Alzheimer’s disease
 The average life expectancy is about
50 yr