I’ve had the pleasure of meeting hundreds of children and adolescents with Down syndrome in the last 20 years. I can say with unwavering confidence that they are absolute bundles of joy and powerhouses of positivity with contagious smiles.
Amazing people, such as Karen Gaffney, are an inspiration not only for individuals with Down syndrome but for all of us.
I always tell parents of children with Down syndrome to have faith in the potential of their kids and cherish their journey of love and care.
What is Down syndrome?
Down syndrome is named after John Langdon Down, who observed that there is a group of people with similar physical features and decreased intellectual capacity. French physician Jerome Lejeune discovered that children with Down syndrome have an extra chromosome, that is, 47 instead of the 46 chromosomes a normal human cell has.
Down syndrome is a common chromosomal aberration and the most common genetic cause of intellectual impairment.
Down syndrome statistics
Between 1979 and 2003, the number of babies born with Down syndrome in the US increased by more than 30%.
According to statistics from CDC, 1 in every 700 babies is born with Down syndrome, whose prevalence in the US is 8 per 10,000 population.
The life expectancy of individuals with this condition has increased from 12 years in 1949 to almost 60 years today.
Types of Down syndrome
There are 3 more common types of Down syndrome, based on the nature of chromosomal aberration.
1. Complete trisomy 21
It is the most common type of chromosomal aberration, in which every cell contains 3 instead of 2 copies of chromosome 21.
2. Mosaic trisomy 21
In less than 5% of Down syndrome cases, most of the cells do contain the extra copy of chromosome 21, but some cells have the normal 46 chromosomes instead of 47. The features of a person with mosaic trisomy 21 might be different from those of someone with trisomy 21 or translocation trisomy 21. This variation depends on how many cells have an extra copy of chromosome 21.
3. Translocation trisomy 21
In translocation trisomy 21, a part of chromosome 21 might break and attach to another chromosome. Children with translocation trisomy 21 are no different in features and intellectual capabilities from those with complete trisomy 21.
There is a possibility that a normal person carries a translocation in chromosome 21 and passes it on to their children.
Causes of Down syndrome
A mother’s age (above 35) is considered a risk factor leading to the increased probability of having a child with Down syndrome, but to date, any specific cause remains unknown.
Common features of Down syndrome
Every child with Down syndrome is different in terms of abilities and challenges.
A child might grow up to be quite an aspiring adult, like John Franklin Stephens. However, some children might struggle to perform simple self-care activities independently.
Here are some common Down syndrome symptoms:
- Flat face, especially nose
- Small ears
- Flat hands with a single crease in the palm
- Short neck
- Upward slanting eyes
- Shorter height
- Thick, protruding tongue
- Loose joints and low muscle tone
Down syndrome is characterized by reduced intellectual abilities. Children with this condition might have mild to moderate intellectual impairment. They also frequently have speech and communication problems, mainly because of their thick tongue and dental issues.
Health problems associated with Down syndrome
According to the CDC, children with Down syndrome have many comorbid medical problems.
- Almost 50% of them are born with congenital heart issues. The presence of heart problems increases the risk of post-neonatal death almost 5 times in children with Down syndrome, and this remains the main predictor of mortality up to 20 years of age.
- Up to 75% face hearing issues.
- 50% to 75% have breathing problems and sleep apnea.
- 50% to 60% have eye diseases and need glasses.
Screening and diagnosis
There are various ways in which health providers screen for and diagnose Down syndrome in babies.
Prenatal screening and diagnosis
- Blood tests and ultrasound are considered safe and reliable methods for screening in the 1st trimester. If ultrasonography indicates extra fluid behind the neck and the doctor spots the presence of certain proteins in the mother’s blood, the fetus might have Down syndrome.
- There are different formal diagnostic procedures to confirm if the fetus has trisomy 21. Physicians take amniotic fluid and test it for extra chromosomes (amniocentesis) or take a sample of cells from the placenta and check it for extra chromosomes (chorionic villus sampling).
Postnatal screening and diagnosis
- Down syndrome is characterized by distinct physical features. Many children are diagnosed during a neo-natal examination and screening by a physician.
- A blood sample from the baby is tested for the number of chromosomes for a formal diagnosis.
Raising a child with Down syndrome
Children with Down syndrome are the happiest and most lively people you can come across. Appropriate and timely therapeutic and academic support can help them in developing to their full potential.
I know of a cute little princess with Down syndrome who enrolled in an early intervention program at 4 months, and around 1.5 years she was walking independently.
Early intervention programs provide parents with the required guidance, training, and resources to keep their child’s development near to normal milestones. I highly recommend enrolling a baby with Down syndrome in an early intervention program.
Many children with Down syndrome have speech and communication problems. Speech therapy can help in managing these issues and developing better communication skills.
Children and adolescents with Down syndrome have relatively short hands and small fingers. They might face problems in developing fine motor skills, for example, holding a pencil or a spoon, cutting with scissors, or buttoning and unbuttoning. Occupational therapy can be highly effective in improving fine motor skills as well as eye-hand and two-hand coordination.
Daily life activities
Children do learn what they live. Then they grow up to live what they’ve learned—Dorothy Nolte
Make your child feel responsible from a very early age. Involve them in simple personal and home chores. If they feel empowered, they will grow into satisfied, happy, and independent adults.
Games and sports
Sports play an important role in the personal grooming and healthy development of children with Down syndrome. Taking part in games and sports not only improves their motor abilities but also helps in developing their social, communication, and cognitive skills.
Research indicates that regular physical activity improves muscle strength and respiratory health. Following a training schedule and sports rules makes children with Down syndrome more disciplined. They learn to bond, empathize with their teammates, face adversities with a positive mindset, and become more perseverant.
The very essence of perseverance and hope is embedded in the oath of every athlete participating in the Special Olympics:
Let me win, but if I cannot win, let me be brave in the attempt.
Encourage your child to participate in sports. One day, they might be representing their country at the international level. Athletes with Down syndrome regularly take part in the Special Olympics and amaze the world with their remarkable talent.
Music, music, music!
Children with Down syndrome simply love music. They enjoy rhythm and music beats. I’ve witnessed countless electrifying stage acts by these amazing performers.
As parents, you can use their passion for music to teach them different skills and academic concepts. You can use music to help them learn the alphabet, numbers, and body parts.
For example, singing and acting along can help in improving their receptive language (understanding the meaning of language), expressive language (using words to express themselves), and motor coordination.
You can also teach them self-care skills like hand washing by using their passion for music.
Children with Down syndrome vary in intellectual capabilities. I’ve seen some graduate from high school with a slightly modified curriculum. At the same time, I have come across children with Down syndrome who struggled with learning basic academic concepts, like word building.
Based on the ability profile of the child, parents have the right to decide if they want to send their kid to a mainstream school or opt for special needs education. The important thing is to make sure that the children get the required professional support to reach their maximum potential.
Hippotherapy is an approach where horse riding is used to improve the gross motor abilities of children with Down syndrome. The motion of the horse is used to stimulate and improve muscle strength and body posture control.
Research findings indicate that many aspects of gross motor functioning benefit from hippotherapy. It significantly improves gate speed, balance, and bilateral symmetry in children with Down syndrome.
World Down Syndrome Day
World Down Syndrome Day is celebrated every year on March 21. This date symbolizes trisomy 21. On this day, children with Down syndrome, their families, and teachers celebrate the unique talents of kids who live with this condition.
Down syndrome does come with certain challenges, but it does not define a person. Instead of counting chromosomes, count the precious and loving moments spent with your child.