What You Should Know About Down Syndrome: Meaning and Early Signs

As parents or caregivers, we cherish every milestone our little ones achieve , whether its a new word , gesture or the first steps. However, there are times when our child might develop more slowly than expected leading us to wonder why they might look or behave differently. One possible reason for delayed growth or responses could be Down syndrome.

Down syndrome is a genetic condition that occurs when a person has an extra copy of chromosome 21. Generally, we can have 23 chromosomes from each parent, i.e., 46 chromosomes in total but in Down syndrome, the individual has a total of 47 chromosomes. It is the most common chromosomal disorder occurring in 1 in 700 births worldwide. This disorder disrupts the development and learning ability of the individual.

There are a few Types of Down Syndrome, namely:

Trisomy 21: About 95% of cases. An individual has three copies of chromosome 21 in all cells.
Mosaic Down Syndrome: About 1% of cases. Some of the cells have an extra copy of chromosome 21, while others do not.
Translocation Down Syndrome: About 4% of cases. Part of chromosome 21 attaches to another chromosome.
Parental screening is typically used to identify Down syndrome early. Parents or guardians generally observe the contrasting characteristics in a newborn. One must rely on diagnostic tests to confirm the diagnosis.

DOWN SYNDROME SYMPTOMS:

If you observe closely, a person with Down syndrome will have distinct facial features, such as the face tending to be flatter than average, particularly the bridge of the nose. Or,
* Upward Slanting Eyes
* Small Head and Ears
* Short Neck with Excess Skin
* Flat Nose: A flatter nasal bridge.
* Small Mouth and Protruding Tongue
* Flattened Nasal Bridge
* Thin Upper Lip

There are also other common physical characteristics often seen in individuals with Down syndrome, like
1. Short Stature and Neck, Small Hands and Feet. The hands may have a single deep crease across the palm ( called the simian crease) and are likely to be more broad, and short with stubby fingers and they also tend to have a gap in between the toes, known as the Sandal gap.
2. Reduced muscle tone leads to floppiness, which can affect physical development and coordination.
3. Hyperflexibilty is also seen in people who have Down syndrome, it is when Joints may be more flexible than usual, particularly in the hips.
4. Teeth may come in late and in an irregular order, and individuals may have smaller than average teeth.

Down Syndrome Newborn Ears: A very significant and easily observable feature in individuals with Down syndrome is their Ear shape. They often have distinct characteristics, including smaller than average and low-set ears, meaning the ears may be positioned lower on the head compared to typical placement. They may have Overfolded Helix ,i.e, The outer rim of the ear may be overfolded or have an unusual shape, and the overall ear structure may appear less complex, with fewer folds and ridges than normal. These features may also lead to a higher risk of ear infections.

Most of these signs of Down syndrome can be observed at an early age by monitoring a child’s development. Individuals with Down syndrome are likely to have intellectual disabilities and delayed development. Compared to their peers, children with Down syndrome may face challenges with learning new development skills like crawling, talking or even grasping objects.

Recognizing these symptoms is important for the patient and those around them. Individuals with Down syndrome need special care and treatment, so it’s crucial to understand how to provide comfort in a special way. These individuals may also face various health issues, such as congenital heart defects, respiratory problems, gastrointestinal issues, hearing and vision impairments, and thyroid dysfunction.

People with Down syndrome can show different behavioural and social traits, often being very affectionate and friendly towards their families. This is due to their difficulty with abstract thinking and understanding social cues. However, the severity and presence of these traits can vary among individuals. These problems associated with Down syndrome can be addressed through specific therapies and approaches:
o Speech Therapy is a great way to improve communication skills which includes articulation, vocabulary, and language understanding.
o Occupational Therapy can be helpful To help develop daily living skills and enhance motor abilities.
o Social Skills Training addresses behavioural challenges and promotes positive behaviours, as well as helps individuals to understand and interpret social cues in a better way.

Since Down syndrome is a genetic disorder, it often raises many questions about the condition. Most of these questions arise out of concern.

What is the life expectancy of individuals with Down syndrome?

There has been alot of Advances in medical care that has significantly improved the life expectancy of individuals with Down syndrome. Many people with Down syndrome live into their 50s or beyond, though it may vary.

Can individuals with Down syndrome live independent lives?
Yes, individuals with Down syndrome can lead fulfilling lives and achieve a high degree of independence. Many of them are able to pursue education, employment. Though the level of independence varies from person to person and some might do well with appropriate support.

How can families support a child with Down syndrome?

Families can support their child by:
• Seeking early intervention and therapies
• Creating a supportive and loving environment
• Encouraging participation in social activities
• Supporting their child’s needs and promoting their rights

Down syndrome Meaning in Hindi:

Down syndrome एक जन्मजात (genetic) स्थिति है जो तब होती है जब किसी व्यक्ति के शरीर में अतिरिक्त 21वाँ क्रोमोसोम होता है। सामान्यत: इंसान के शरीर में 46 क्रोमोसोम होते हैं, लेकिन Down syndrome में व्यक्ति के पास 47 क्रोमोसोम होते हैं।

इस अतिरिक्त क्रोमोसोम की वजह से व्यक्ति के विकास और सीखने की क्षमताओं पर असर पड़ता है।

Down syndrome के कुछ सामान्य लक्षण होते हैं:

– चेहरा थोड़ा फ्लैट होता है और नाक का पुल भी सपाट हो सकता है।
– आंखें ऊपर की ओर झुकी हुई होती हैं।
– सिर और कान छोटे होते हैं और कान आमतौर पर सिर के निचले हिस्से में होते हैं।
– गर्दन छोटी और पीठ में अतिरिक्त त्वचा हो सकती है।
– हाथ और पैर छोटे और चौड़े हो सकते हैं, और हाथ की हथेली में एक गहरी रेखा हो सकती है।

इस स्थिति का जल्दी पता लगाने के लिए प्रेग्नेंसी के दौरान स्क्रीनिंग की जाती है, और जन्म के बाद भी डॉक्टर द्वारा परीक्षण किए जाते Down syndrome के साथ जन्म लेने वाले बच्चे विशेष देखभाल और मदद से अपने पूरे क्षमता तक पहुँच सकते हैं।