Rare gene changes are important when we talk about developmental disorders. Studies show that around 1 in 20 children have these types of disorders.

Types of Gene Changes:

1. Single nucleotide variants (SNVs)
2. Copy number variations (CNVs)
3. Large-scale chromosomal problems

Facts to Know:

• About 25% of developmental disorders are connected to new gene changes.
• As many as 70% of Autism Spectrum Disorder (ASD) cases might be caused by gene changes.
• Disorders like intellectual disability happen in about 1 in 300 babies, often due to rare gene changes.

Learning about these gene changes helps us understand risks, allows for early diagnosis, and helps create better treatments.