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What is CHARGE Syndrome?

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Summary

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CHARGE syndrome is a rare condition that affects kids from birth. It causes health problems in different parts of the body, like the eyes, ears, heart, and growth. Each letter in CHARGE stands for a common issue these kids might have.

Frequently Asked Question

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What does CHARGE stand for?

CHARGE is an acronym that stands for Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital abnormalities, and Ear abnormalities.

How can CHARGE Syndrome be managed?

Managing CHARGE Syndrome involves a range of treatments, including medical support, therapy sessions, specialized education, and emotional support.

How can Goally assist children with CHARGE Syndrome?

Goally is a tool that uses engaging apps to help children with CHARGE Syndrome improve their life and language skills and learn routines in a fun way.

Scientific Definition

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CHARGE syndrome is a complex genetic disorder characterized by a specific pattern of birth defects. The acronym CHARGE represents Coloboma, Heart defects, Atresia choanae, growth Retardation, Genital abnormalities, and Ear abnormalities. It occurs in approximately 1 in 10,000 births worldwide and is caused by mutations in the CHD7 gene.

 

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Treatment for CHARGE Syndrome

Treatment for CHARGE syndrome varies based on each child’s specific needs:

  • Medical care: Regular check-ups with specialists to monitor and treat various health issues.
  • Surgeries: Might be needed for heart defects, breathing problems, or vision issues.
  • Therapy: Speech, physical, and occupational therapy can help with development.
  • Educational support: Special education plans tailored to the child’s learning needs.
  • Hearing aids: For kids with hearing loss to improve communication skills.

Long-term outlook: With proper care and support, many kids with CHARGE syndrome can make significant progress. Their quality of life often improves as they grow and learn to manage their unique challenges.

Symptoms of CHARGE Syndrome

CHARGE syndrome affects multiple body systems, leading to various symptoms. Here’s a quick overview:

Body System Common Symptoms
Eyes Vision problems, missing iris
Ears Hearing loss, balance issues
Heart Congenital heart defects
Nose Blocked nasal passages
Growth Delayed physical development
Genitals Underdeveloped genitalia

Kids might also have feeding difficulties, delayed motor skills, and intellectual disabilities. It’s important to remember that symptoms can vary widely from child to child.

 

This post was originally published on July 29, 2023. It was updated on July 5, 2024.