HEALTHCARE INITIATIVES RECOMMENDED FOR CHILDREN WITH DOWN'S SYNDROME.

"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.

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

2. 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.

3. 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.

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

5. (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.

6. (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.

7. (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.

8. (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. 

9. (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.

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

11. (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 .

12. (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.

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

14. (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 .

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

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

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

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

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

20. (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.

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

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

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

24. 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.

25. 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 … ;