الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
OcculTIng 111 approximately
incidcnce ho\\ e\ cr IncreaSes significantly \\ ith ad\ ’1ncing
matcmal age. In \\ omen under 30, the incidence is about
O.h ill 1000 births; this increase to appro:\imC1tel) 20 in
chrulllu”umc :2 I Ut’ the translocatioll of q22 segment to
~lIl()lhcr chromo:-;l)tlle, This has led some investigators to
conclude that q22 portion IS responsible for this disease.
T\\ 0 enzymes involved In pUrIne metaboiism, GARS
and :\ I RS ha\ e been mapped to chromosome 21. As
altered purine metabolism is related to mental retardation,
this could explain the lowered intellectual capacity of
these patients.
manifestation of Down syndrome are
numerous like mongloid facies, mental retardation and
hypotonia
characterize Down syndrome and
brachycephaly,
slant nf the e: es, prominent internal epicanthal folds,
spec k led i ri des. 11 ~ll nas{ll bridge, high arched pal ate, large
ri fth Ii nger, Do\\n
be associated \\’ith congenital heart
d ise~he~. decreased acetabular and iliac angles, small
pen IS and cryptorch id ism,
Ear. nose and throat disorders Il1 Down syndrome
interfere \\’ith the full developmental potential and the
average intelligence especially during the first two years
early detection and aggressIve
intervention IS very ill1portant 111 order to decrease the
inheritance lag in both the cognitive and communicative
Otologic disorders III young
children with 0.0\;\:11
syndrom~ may be congenital or acquired, contributing to
a r~lati\·elv high incidence of
hearing loss ~ither
studieS conc~rn~d \\ith thi,’ lSSU~ report~d that thes~
to 7~O o. The majorit) of
commun In ) ounger children and h~nce the\ n~ed for
monitorinQ b\’ Auditory Brain stem Respons~ unit (ABR)
speci~11ly before three and half) ears of life.
Otoacoustic emissions (OAEs), called cochlear echoes,
are I itcrally small echoes from hair-cell activity within the
coch lea in response to acoustic stimulation. The healthy
cochlea responds with these
echoes every time it
processes sound; damaged cochleas do not. OAEs are