"Down's Syndrome" is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down's Syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down's syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby. Ear, nose, and throat (ENT) problems are common in individuals with Down’s syndrome. It is important for primary care physicians and caregivers to be aware of these problems, most of which are present throughout an individual’s life. An ENT specialist, plays an important role in the health of a person with Down’s syndrome. ENT related problems are closely linked to physical, emotional, and educational development. Monitoring and treatment is critical, as there is a high rate of under diagnosis and under treatment of ear infections in children with Down’s Syndrome.

2. HEALTHCARE INITIATIVES
RECOMMENDED FOR CHILDREN
WITH DOWN’S SYNDROME
Dr. RIFFAT KHATTAK
CONSULTANT SURGEON-ENT.
FGPMI-ISLAMABAD.

3. INTRODUCTION:
• Down’s Syndrome ( Trisomy 21), is a genetic disorder caused by the
presence of all or a portion of a third chromosome 21.
• Patients typically present with mild to moderate intellectual disability,
growth retardation, and characteristic facial features.
• This activity reviews the evaluation and management of the ENT
related problems in Down’s syndrome.

4. INTRODUCTION
• Ear, nose, and throat (ENT) problems are common in individuals
with Down’s syndrome.
• It is important for primary care physicians and caregivers to be
aware of these problems, most of which are present throughout an
individual’s life.
• An ENT specialist, plays an important role in the health of a person
with Down’s syndrome.
• ENT problems are closely linked to physical, emotional, and
educational development.

6. ENT RELATED PROBLEMS
IN INDIVIDUALS WITH
DOWN’S SYNDROME :

7. (a)- EXTERNAL EAR CANAL
STENOSIS:
• Stenotic ear canals (narrow
ear canals) can occur in up to
40-50% of infants with Down’s
syndrome.
• Narrow ear canals can make
the diagnosis of middle ear
diseases difficult.
• Cleaning of the ear canals by
an ENT specialist is often
necessary to ensure proper
examination and diagnosis.

8. (b)-CHRONIC EAR INFECTIONS:
• Children with Down’s Syndrome
have an increased incidence of
upper respiratory tract infections,
which predisposes to chronic ear
infections.
• The facial anatomy of Down’s
Syndrome also predisposes
chronic ear disease.
• Low muscle tone (hypotonia)
affects the opening and closing of
the eustachian tube, which can
cause negative pressure to build
up in the middle ear space,
leading to fluid retention and
infection.

9. (b)-CHRONIC EAR INFECTIONS
• Chronic Eustachian tube dysfunction lasts longer in children with
Down’s syndrome than in the general population.
• So the ears and potential infection should be monitored regularly.
• Some children may need repeated placement of pressure
equalization (PE) tubes to eliminate chronic infections.

10. (C) - HEARING LOSS.
• Conductive Hearing Loss:
▫ The most common type of hearing loss in Down’s syndrome (60 –
80%).
▫ Caused when sound cannot get through the outer and middle ear.
▫ Usually temporary and fluctuating but reccurring. This is due to
anatomical differences and weaker immune systems that make it
more likely wax and/or fluid buildup will occur.
▫ Treatment of this hearing loss usually involves wax removal, wax
softener or removing the fluid and preventing infection with
surgical tubes or antibiotics.

11. (C) - HEARING LOSS
• Sensorineural Hearing Loss:
▫ Less common hearing loss in Down’s Syndrome but overall, rates
much higher than the general population (15 – 20%) due to a
higher risk of health complications.
▫ Can be from birth or acquired later.
▫ Often a hearing loss related to aging, which occurs at an earlier
age in Down’s syndrome.
▫ More often a permanent cause of hearing loss, due to issues with
the nerve pathways to the brain.

12. (C) - HEARING LOSS
Mixed Hearing Loss :
Having both a conductive and
sensorineural component.

13. (d) -AIRWAY OBSTRUCTION
AND SLEEP APNEA:
• Obstructive sleep apnea
occurs when the airway is
blocked during sleep.
• This can be caused by the
small upper airway, large
adenoids and tonsils, collapse
of the airway due to hypotonia
of the muscles of the throat
and increased secretions that
can be characteristic of
persons with Down’s
Syndrome.
• Obstruction can also occur
from glossoptosis.

14. (e) - CHRONIC RHINITIS AND
SINUSITIS:
• The facial anatomy of Down’s
Syndrome along with the
developing immunological
system predisposes to chronic
rhinitis and sinusitis.
• Treatment includes the use of
saline drops or spray, the use
of antihistamine medications
and steroid nasal sprays.

15. HEALTHCARE INITIATIVES
PROPOSED FOR
INDIVIDUALS WITH DOWN’S
SYNDROME :

17. (a) -SPECIALIZED CLINICS:
• Dedicated clinics with
multidisciplinary teams
including a Cardiologist,
a Pulmonologist, a
Pediatrician, an ENT
Specialist, A Speech
Therapist, a Psychologist
etc. providing
comprehensive care and
addressing specific
needs.

18. (b) – EARLY INTERVENTIONS:
• Enhanced early
childhood interventions
focusing on Speech,
Physical and
Occupational therapies.

19. (c) - HEALTH SCREENINGS :
• Regular Health
Checkups and screening
for common co
morbidities for eg.
Cardiological issues,
Sleep apnea and audio-
visual problems.

20. (d) – MENTAL HEALTH
SUPPORT :
• Access to mental health services and therapies tailored
to their needs.

21. (e) – INCLUSIVE FITNESS :
• Adaptive exercise
programs promoting
physical activity and
mental well-being.

22. (f) NUTRITION & WELLNESS
EDUCATION :
• Personalized guidance on healthy eating and life
choices.

23. (g)- RESEARCH AND DATA
COLLECTION :
• Continued research and data collection for
better understanding and addressing the
specific healthcare needs of individuals with
Down’s Syndrome.

24. (h)- HEALTHCARE PROVIDER
TRAINING:
• Education and training of the healthcare
professionals to ensure quality care.

25. (i) – FAMILY SUPPORT
SERVICES:
• Respite care, counseling and support groups for
families and caregivers.

26. (j) – ADVOCACY AND
AWARENESS :
• Promoting inclusion,
acceptance and
awareness to combat
stigma and ensure equal
access to healthcare.

27. CONCLUSION :
• Ear, nose, and throat (ENT) problems are common in individuals
with Down’s Syndrome.
• It is important for primary care physicians and caregivers to be
aware of these problems.
• The ENT Specialist plays an important role in the health of a person
with Down’s Syndrome, especially given that ENT problems are
closely linked to physical, emotional, and educational development.
• Monitoring and treatment is critical, as there is a high rate of under
diagnosis and under treatment of ear infections in children with
Down’s Syndrome.

28. REFERENCES :
• American Speech-Language-Hearing Association
www.asha.org
• National Institute on Deafness and Other Communication Disorders
Clearinghouse
www.nidcd.nih.gov
•
“Ear, Nose and Throat Problems with Down Syndrome” Children’s Hospital
at Vanderbilt https://www.childrenshospitalvanderbilt.org/information/ear-
nose-and-th…
• “Children with Down syndrome should see an ENT specialist”
Texas Children’s Blog Post by Dr. Mary Frances Musso
https://www.texaschildrens.org/blog/2017/04/children-down-syndrome-
shou…;