🌟 Easy Read Module: Genetic and Chromosomal Syndromes

 

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1️⃣ Down Syndrome (Trisomy 21)

💛 What is Down Syndrome?

A genetic condition caused by an extra copy of chromosome 21

Changes how the body and brain develop

Common features: almond-shaped eyes, flat nasal bridge, single palm crease, shorter height

💬 Learning and Development

Mild to moderate learning disabilities

May learn to sit, walk, talk later

Benefit from repetition, structure, and visual learning

🩺 Health and Support

Heart problems, hearing or vision difficulties, thyroid issues

Low muscle tone

Support: speech therapy, physiotherapy, educational support

🌈 Strengths

Strong social skills, humour, empathy

Can study, work, live independently, enjoy friendships, and community life

Quiz / Reflection

What is Down Syndrome?

What causes Down Syndrome?

Can parents cause or prevent it?

Name two physical features of Down Syndrome

What support helps learning and health?

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2️⃣ Williams Syndrome

🧬 What is Williams Syndrome?

Rare genetic condition caused by missing genes

Not inherited from parents

Everyone affected differently

🎵 Strengths

Talkative, expressive 🗣️

Musical memory and rhythm 🎶

Recognizing faces 🙂

Very social 👥

🧠 Challenges

Visuospatial skills (shapes, space)

Math difficulties

Focus/concentration

Fine motor skills

🍼 Early Signs

Small or light at birth

Slow growth and development

Feeding or sleep difficulties

🏥 Support

Physiotherapy, speech therapy, special education

Quiz / Reflection

What is missing in Williams Syndrome?

Name one strength of someone with Williams Syndrome

Name one challenge someone might face

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3️⃣ Klinefelter Syndrome

🧬 What is Klinefelter Syndrome?

Male-only chromosomal condition (47, XXY)

Extra X chromosome

About 1 in 600 males

🧠 Features / Learning

Speech and language difficulties

Learning or attention challenges

Sometimes anxiety, depression, ADHD

💪 Strengths

Kind, creative, thoughtful

Can succeed academically and socially

🏥 Support & Treatment

Testosterone therapy, speech therapy, counselling, educational support

Quiz / Reflection

Who can have Klinefelter Syndrome?

What chromosome is extra?

Can it be prevented?

Name one support that helps

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4️⃣ Turner Syndrome

💛 What is Turner Syndrome?

Chromosomal condition affecting females only

One X chromosome missing or partly missing (XO)

Not caused by parents

👧 Common Features

Shorter height

Delayed puberty, infertility

Heart or kidney differences

Hearing problems

Some math or memory difficulties

🧠 Support

Extra help with maths or organisation

Emotional support

Medical monitoring

💡 Strengths

Bright, independent, can study, work, live fully

Quiz / Reflection

Who can have Turner Syndrome?

What support might be needed?

Is Turner Syndrome a learning disability?

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5️⃣ DiGeorge Syndrome (22q11.2 Deletion Syndrome)

🧬 What is DiGeorge Syndrome?

Missing piece of DNA on chromosome 22

Genetic, present from birth

Variable severity; each person affected differently

🩺 Associated Problems

Learning and behavior problems

ASD, ADHD

Speech problems, feeding difficulties

Heart defects

Hormone problems

Increased infections

Arthritis or musculoskeletal issues

Anxiety or schizophrenia

Key Takeaways

Affects both cognitive development and physical health

Severity varies widely

Awareness helps with early diagnosis and support

Quiz / Reflection

What chromosome is affected in DiGeorge Syndrome?

What does CATCH-22 stand for?

What heart defects are common?

Can DiGeorge Syndrome be inherited?

Name one learning or developmental impact

Name one physical health problem

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6️⃣ Comparison Table (Optional)

Feature	Down Syndrome	Williams Syndrome	Klinefelter	Turner	DiGeorge
Sex affected	Both	Both (more males)	Males only	Females only	Both
Chromosomal change	Extra chromosome 21	Missing genes	Extra X (XXY)	Missing/partial X	Missing segment 22q11.2
Learning / cognitive	Mild-moderate LD	Learning disability	Speech/learning issues	Normal intelligence, some math/memory	Learning/behavior problems
Social strengths	Social, empathetic	Friendly, musical, talkative	Kind, creative	Bright, independent	Variable, social impact possible
Medical concerns	Heart, thyroid, hearing	Feeding, growth, sleep	Hormone, fertility	Heart, kidney, hearing	Heart, immune, hormone, feeding
Support needed	Therapy, education	Therapy, education	Therapy, hormones, education	Emotional/medical	Therapy, medical, educational

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7️⃣ General Questions (Easy Read Quiz)

Name two syndromes that affect only one sex.

Which syndrome involves an extra chromosome in males?

Which syndrome has “22q11.2 deletion”?

Name one physical and one learning challenge in any syndrome.

Name one strength from any syndrome.

Why is early diagnosis important?

Reflection

Compare and contrast Turner, Williams, and Klinefelter Syndromes.

How can support differ depending on the syndrome?

Why is understanding both strengths and challenges important?