Down’s Syndrome in Nepal

Down’s syndrome, named after the London physician John Langdon Down (1866) is a genetic disorder that occurs when there is an extra copy of chromosome 21. The condition is also known as Trisomy 21 meaning there is a tri or three copies of the Chromosome 21 instead of normal 2.  Chromosomes are protein structures inside the cell and carry gene-based information from cell to cell. Normally humans have 22 pairs (44 number) of chromosomes and one pair of sex chromosomes (XX or XY), a total of 46 Chromosomes. Thus the 23^rd pair is called sex chromosomes determining the sex of the individual. The DNAs, which are found in chromosomes, contain genes that carry instructions for cell division and other functions of the cell. Down’s syndrome in Nepal is supported through different organizations.

There is an additional copy of the 21st chromosome in Down’s Syndrome. The additional 21^st DNA in Down’s Syndrome instructs cells to produce, function, and proliferate in a different way leading to the features of Down’s Syndrome.

This extra copy of the 21^st chromosome leads to differences in how the body and the brain develop leading to dysmorphic features and mild to severe cognitive impairement. Note the extra (three) copy of the 21 chromosome in the image from Human Genome Project.

Down’s Syndrome has variations namely, the Trisomy, Translocation, and Mosiac based on the chromosomal variations. The most prevalent is Trisomy amounting to about 95% of Down Syndromes. Although the physical and behavioral features of all these three variations may not differ significantly and are hard to tell by the features alone, diagnostic profiling can differentiate between the three types of Down Syndromes.

A child or an adult is more or less, easily recognized by a flattened face, soft and loose muscles (थल्थले ), nasal bridge (नाक को डान्डी थेप्चो भएको), a short neck, small ears, small hands, and feet. Dr. Langdon Down then mistook this condition for “mongolian imbecility”.

Individuals with Down Syndrome usually have a lower level of intellectual ability, are slower to speak and have impaired growth and low height-for-age. Some of the other features include the following:

• • Almond-shaped eyes that slant up.
  • A flattened face, especially the bridge of the nose
  • A short neck
  • Small ears
  • A tongue that tends to stick out of the mouth.
  • Tiny white spots on the iris of the eye
  • Small hands and feet
  • A single line (palmar crease) across the palm of the hand
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose joints
  • Shorter in height as children and adults

Prevalence

Down syndrome is one of the most common chromosomal disorders, occurring in approximately 1 in every 700 live births worldwide¹. The chance of having a child with Down syndrome increases with the mother’s age, particularly in women over the age of 35^2,3. The probability of having a baby with DS is around 0.1% in 20-year-old mothers to 3% in those of age 45⁴.

It is important to note that though the mental abilities of a person with adult with DS is about 8 or 9 year old, the emotional and social awareness is very high^5,6. Most individuals with DS will eventually develop early onset Alzheimer’s Disease.

In Nepal, as many as 350 cases (as in 2016) of Down’s syndrome were registered at Down’s Syndrome Society Nepal (DSSN), an NGO that works to support children with Down’s syndrome.

The exact prevalence of Down’s Syndrome in Nepal could not be obtained. According to an article in the Republica which cites Dr. Imran Ansari, Department of Paediatrics in Patan Academy of Health Sciences, quotes that there is no exact record of persons with Down’s syndrome as the country does not maintain data on them.

Diagnosis

Down’s Syndrome can be screened for during pregnancy. The screening can indicate if there is a low or high risk of a baby having Down’s Syndrome.

These tests measure substances that are indicative of Down’s Syndrome and when combined with an ultrasound of the fluid in the womb can be very useful for a doctor to tell the risk of the baby having (or not having) Down’s Syndrome.

However, the screening tests are not absolute, and at times these may indicate a risk of Down Syndrome even when the risk is not there, or vice versa.

Once the screening tests have given an indication the parents or the clinician then can opt for additional Diagnostic Tests. The diagnostic tests are fairly reliable. The amniotic fluid, a small sample from the placenta, and a blood sample drawn from the umbilical cord of the fetus results in an almost definite diagnosis of whether the baby has Down’s Syndrome or not.

The differences between the Screening Tests and Diagnostic Tests are that the screening tests are less invasive and Diagnostic tests require different samples to be drawn from the placenta, amniotic fluid, and the umbilical cord.

The Diagnostic tests, chorionic villi sampling (CVS) is carried before 13 weeks of gestation and amniocentesis test is carried after 15 weeks of pregnancy. These tests carry a 1% risk of miscarriage⁷.

Advanced maternal age is a key factor prompting a Screening as well as a Diagnostic test.

Postnatally, after the birth of the child distinctive facial features, low muscle tone, and developmental delays, should often be considered. However, the diagnosis is confirmed through chromosomal analysis, typically through a blood test that examines the baby’s chromosomes.

The Stigma

As with all mental health conditions, there is a huge amount of stigma surrounding Down Syndrome. The seriousness of the discrimination and stigma is starkly portrayed by a case where the parents abandon their newborn child with Down Syndrome at Medicity Hospital, Nepal. Bigotry and Prejudice arise out of ignorance. Many hold the belief that individuals with Down Syndrome are incapable of learning and are burden to the family. Government and non-Governmental organizations need to raise awareness by example by providing job opportunities to individuals with Down Syndrome in Nepal. Studies have shown that individuals with Down Syndrome have held various positions such as clerks, scaffolders, models, chefs, baristas, even flight attendants. The most important part is that they are provided proper opportunity and training. As many with DS also suffer from intellectual disability of various severity there are times these individuals are sexually harassed, molested and even raped.

Management

There is no cure for Down’s Syndrome. However, with appropriate medical consultation, support from the family and the community, proper education, and a relevant job are shown that people with DS can survive well with a good quality of life. Many may think otherwise but people with Down Syndrome can work very well and can be trained for skill-based activities which will in turn increase their wellbeing and also help in reducing stigma regarding the condition.

In fact, in its Article 27, United Nation’s Convention on the Rights of Persons with Disabilities (UNCRPD) states the right of persons with disabilities to work, on an equal basis with others; this includes the right to the opportunity to gain a living by work freely chosen or accepted in a labour market and work environment that is open, inclusive and accessible to persons with disabilities. States Parties shall safeguard and promote the realization of the right to work, including for those who acquire a disability during the course of employment, by taking appropriate steps, including through legislation⁸.

Medical Care

Individuals with Down syndrome often require medical care to address specific health concerns associated with the condition. These may include congenital heart defects, respiratory issues, hearing problems, and thyroid dysfunction. Regular check-ups with healthcare professionals are essential for monitoring and managing these health issues.

Early Intervention and Education

Early intervention programs are crucial for children with Down syndrome. These programs focus on enhancing developmental skills, addressing speech and language delays, and providing physical and occupational therapy. Early childhood education tailored to the child’s unique needs can significantly improve cognitive and social development.

Inclusive Education

In recent years, there has been a shift towards inclusive education, promoting the integration of individuals with Down syndrome into mainstream classrooms. Inclusive education fosters socialization, promotes a sense of belonging, and allows individuals with Down syndrome to learn alongside their peers.

Supportive Services

Supportive services, including speech therapy, physical therapy, and occupational therapy, play a vital role in addressing the specific challenges individuals with Down syndrome may face. These services are designed to enhance independence, improve communication skills, and develop motor skills.

Emotional and Social Support

Families of individuals with Down syndrome may face unique challenges, and emotional and social support is crucial. Support groups, counseling services, and community resources can provide assistance, guidance, and a sense of community for families navigating the complexities associated with Down syndrome.

Conclusion:

While Down syndrome in Nepal presents challenges, advancements in medical care and a growing emphasis on inclusive practices contribute to a better quality of life for individuals with this condition. Early diagnosis, medical intervention, educational support, and social inclusion are key components in the comprehensive management of Down syndrome, allowing individuals with this condition to lead fulfilling and meaningful lives. As awareness continues to grow, society can better appreciate and embrace the diverse abilities and contributions of those with Down syndrome.

More Information on different activities for Down’s Syndrome in Nepal.

Down Syndrome Society Nepal (DSSN) recently, on the day of World Down Syndrome Day on March 21 organized a program to advocate and raise awareness with the year’s theme “End The Stereotypes”⁹. Down Syndrome Society Nepal organized a three-month training program in association with Silver Mountain College of Hotel Management which benefitted many¹⁰.

An article by Elisha Shrestha in The Kathmandu Post writes about a boy Pradhesh Aryal, who has Down Syndrome and is working as a dishwasher at Coffee Express in Durbar Marg’s Sherpa Mall. The article mentions Dr. Mukesh Bhatt as saying “however, people with Down Syndrome have the potential to work and lead independent lives. The only things they need are proper support and opportunities”. Pradesh Aryal adds that “although slow learners, they can perform well with practice and have a range of abilities to explore a skill-based task¹⁰.”

Read more:

Autism Spectrum Disorder | Psychology Nepal

Differences among Rett’s Syndrome, Tourette’s Syndrome, Autism and Down’s Syndrome: An Overview/

Understanding Rett Syndrome: A Rare Neurodevelopmental Disorder

Useful Links to Down’s Syndrome in Nepal

Down Syndrome Society, Nepal (DSSN) | Facebook

Down Syndrome Society, Nepal (dssn.org.np)

References:

1. Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–Birth Defects Research. 2019; 111(18): 1420-1435.
2. Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
3. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
4. Morris, JK; Mutton, DE; Alberman, E (2002). “Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome”. Journal of Medical Screening. 9 (1): 2–6. doi:10.1136/jms.9.1.2. PMID 11943789.
5. Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). “Health and disease in adults with Down syndrome”. Tidsskrift for den Norske Laegeforening. 133 (3): 290–94. doi:10.4045/tidsskr.12.0390. PMID 23381164.
6. L. Hippolyte, K. Iglesias, M. Van der Linden & K. Barisnikov (August 2010). “Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio-emotional behaviour”. Journal of Intellectual Disability Research. 54 (doi: 10.1111/j.1365-2788.2010.01299.x): 714–726. doi:10.1111/j.1365-2788.2010.01299.x. PMID 20590998.
7. NHS Choices. Pregnancy and Baby Down Syndrome. Last reviewed: 09/02/2015 Available ONLINE at: Down’s syndrome – NHS (www.nhs.uk); acessed 2023/12/12.
8. Article 27 – Work and employment | United Nations Enable [Internet]. [cited 2024 Aug 28]. Available from: https://www.un.org/development/desa/disabilities/convention-on-the-rights-of-persons-with-disabilities/article-27-work-and-employment.html
9. World Down Syndrome Day 2024 – Down Syndrome Society, Nepal [Internet]. [cited 2024 Aug 28]. Available from: https://dssn.org.np/world-down-syndrome-day-2024/
10. Adults with Down syndrome don’t just need sympathy—they need jobs [Internet]. [cited 2024 Aug 28]. Available from: https://kathmandupost.com/national/2020/01/05/adults-with-down-syndrome-don-t-just-need-sympathy-they-need-jobs