Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (Trisomy 21). This affects development and leads to a range of physical, cognitive, and health-related differences.
It is not a disease, but a lifelong condition that varies in impact between individuals.
🧬 Causes
Down syndrome occurs when a person has three copies of chromosome 21 instead of two.
Types:
- Trisomy 21 (95%) – every cell has an extra chromosome
- Translocation (3%) – extra chromosome material attached to another chromosome
- Mosaicism (2%) – only some cells have the extra chromosome
⚠️ Risk Factors
- Most common risk factor: advanced maternal age (35+)
- However, most babies with Down syndrome are born to mothers under 35
🧠 Developmental Effects
- Mild to moderate intellectual disability
- Delayed speech and language development
- Delayed motor skills (sitting, walking, coordination)
👁️ Physical Features
- Flattened facial profile
- Upward slanting eyes
- Short neck
- Low muscle tone (hypotonia)
- Single deep crease across the palm
🏥 Health Conditions
Down syndrome may be associated with:
- Congenital heart defects
- Hearing loss
- Vision problems
- Thyroid disorders
- Sleep apnoea
🧬 Inheritance
- Usually occurs randomly (not inherited)
- Translocation cases can sometimes be inherited
- Overall inheritance risk is low
💊 Support and Treatment
There is no cure, but support improves outcomes:
- Speech therapy
- Physiotherapy
- Occupational therapy
- Special education support
- Early intervention programmes
💡 Key Message
Down syndrome is a lifelong genetic condition, but many individuals live healthy, fulfilling, and independent lives with the right support.
🧩 2. EASY READ VERSION (SIMPLE LANGUAGE)
🧠 Down Syndrome
- Down syndrome is a genetic condition
- People are born with it
🧬 What causes it
- There is an extra chromosome 21
- This changes how the body develops
❗ Important
- It is not a disease
- It is not anyone’s fault
- Most cases happen by chance
👁️ Common features
People may have:
- Flat face
- Upward eyes
- Low muscle tone
- Short neck
🧠 Learning and development
- Learning may be slower
- Speech may take longer
- Walking may be delayed
🏥 Health
Some people may have:
- Heart problems
- Hearing or vision issues
- Thyroid problems
💡 Key message
- People with Down syndrome can live full lives
- Support helps learning and independence
- Everyone is different
📊 3. TABLE SUMMARY VERSION
| Feature | Information |
|---|---|
| Condition | Down syndrome |
| Cause | Extra chromosome 21 (Trisomy 21) |
| Types | Trisomy 21 (95%), Translocation (3%), Mosaicism (2%) |
| Risk factor | Advanced maternal age |
| Inheritance | Usually not inherited |
| Developmental effects | Learning delay, speech delay, motor delay |
| Physical features | Flat face, upward eyes, low muscle tone |
| Health issues | Heart defects, hearing loss, thyroid issues |
| Cure | No |
| Support | Therapy, education, early intervention |
🧠 4. POWERPOINT SLIDES VERSION
Slide 1 – Title
Down Syndrome (Trisomy 21)
Slide 2 – What it is
- Genetic condition
- Extra chromosome 21
- Present from birth
Slide 3 – Causes
- Trisomy 21 (most common)
- Translocation
- Mosaicism
Slide 4 – Physical features
- Flat facial profile
- Upward slanting eyes
- Low muscle tone
- Short neck
Slide 5 – Development
- Learning delay
- Speech delay
- Motor skill delay
Slide 6 – Health conditions
- Heart defects
- Hearing problems
- Vision issues
- Thyroid conditions
Slide 7 – Support
- Therapy
- Early intervention
- Special education
Slide 8 – Key message
- Lifelong condition
- Not a disease
- People can live full lives
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