DOWNS SYNDROME

 Named after John Langdon Down, the British doctor

who first described the condition in 1887.
 Down in 1959, noted that Downs Syndrome is a genetic
disorder caused by an extra chromosome
 Extra genetic material causes delays in both mental
and physical development milestones.
 Down’s syndrome is also called Trisomy 21.
 A child during conception gets 23 chromosomes from
each parent making a total of 46 in number.
 Down’s syndrome occurs when a child during
conception gets an extra chromosome 21 making a
total of 47 chromosomes instead of 46 chromosomes.
 Its not known even by the scientist reasons a
child during conception gets an extra
chromosome 21 making a total of 47
chromosomes instead of 46.
 It is this extra genetic material that causes the
physical features and developmental delays
associated with Down’s syndrome.
 No prevention to the chromosomal error since
no one knows what causes it but scientists do
know that women above the age of 35 have a
higher risk of having a child with the condition.
Physical characteristics of children with Down’s
syndrome
• A flat facial profile,
• An upward slant to the eyes,
• Small ears
• A protruding tongue.
• Low muscle tone (hypotonia)
• Experience delay developmental milestones like sitting
up, crawling and walking.
• An increased risk of developing pulmonary
hypertension, a serious condition that can lead to
irreversible damage to the lungs.
Other characteristics of children with Down’s
syndrome
• Down’s syndrome affects ability to learn in different ways.
• Most have mild to moderate intellectual impairment.
• Can and do learn, and are capable of developing skills for
survival throughout their lives.
• About half of all children with Down’s syndrome have
problems with hearing.
• The hearing loss is often to fluid buildup in the inner ear
or the structural problems of the ear itself.
• Otitis media and Glue ear condition are the ones which
causes hearing problems in children with the syndrome.
• Children with Down syndrome commonly
suffer Otitis media.
• OM is caused by the problems of poor
drainage of the sticky glue
• More susceptible to infections of all kind.
• The other cause of hearing loss is Glue
ear, with high incidence in children with
Down’s syndrome.
• A mucoid secretion accumulates in the
middle ear and stops the ossicles from
vibrating freely, therefore reducing
hearing levels.
• Tends to have stickler glue which is less
likely to drain away and more likely
become infected.
• The Eustachian tubes that tend to be
narrower are often less effective in
allowing drainage from the middle ear
• Down’s syndrome has no cure
• However, the health problems associated
with this syndrome can be treated.
• Otitis media can be treated by using
antibodies
• The glue ear can be treated using three
ways
• Insertion of grommets
• Micro suction
• Tonsillectomy or adenoidectomy
• The grommets in the eardrum allows the
fluid to drain out in the middle ear into
the external auditory canal.
• Grommets are tiny tubes with flanges at
each end inserted through the eardrum
and allows the glue to drain out.
• This is very effective as long as the
grommets remain in position in the ear
drum.
• Micro suction involves sucking the
fluid out of the middle ear using thin
niddle inserted through the eardrum.
• The sucking usually is repeated
several times
• Its effective because there is no
discharge into the external auditory to
be dealt with.
References
 Shott S.R. (2000). Down syndrome.
Common paediatric ear, nose & throat
problems. Down Syndrome Quartery.
 Marcel M.M (1995). Relationship between
hearing & Auditory Cognition in Down’s
syndrome. Research and Practise (2003).
 Mary L. & Gavin MD. (2003) . KidsHealth.
The Nemours Foundation(2016).