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What are CNVs?

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Summary

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CNVs, or copy number variations, are changes in the number of copies of certain parts of a person’s DNA. These changes can lead to differences in how the body develops and functions, sometimes causing conditions like autism or intellectual disabilities.

Table of Contents

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Frequently Asked Question

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How do CNVs impact a child's development?

CNVs can cause developmental delays, learning challenges, speech issues, and even physical symptoms or behavioral changes in kids.

Are there treatments available for kids with CNVs?

Yes, treatments range from genetic counseling and supportive therapies to medications and specialized educational support.

How can tools like visual schedules help kids with CNVs?

Visual schedules, like Goally, guide kids through daily tasks, fostering independence and helping with routines which can be particularly helpful for children affected by CNVs.

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Scientific Definition

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Copy number variations (CNVs) are structural variations in the human genome where sections of DNA are duplicated or deleted, resulting in an abnormal number of copies of one or more genes. These variations can range in size from a few hundred base pairs to several megabases and may contribute to the development of various neurodevelopmental disorders, such as autism spectrum disorder (ASD) and intellectual disability. Studies suggest that CNVs are found in approximately 10-20% of individuals with ASD or ID.

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Treatment for CNVs

Symptoms of CNVs can vary widely depending on the specific genetic change and the individual child. Some common signs and symptoms may include:

Issue Description
Developmental delays Kids may reach milestones later than expected.
Learning difficulties Struggles with reading, writing, or math.
Communication challenges Difficulty expressing thoughts or understanding others.
Social skills deficits Trouble making friends or interacting with peers.

It’s important to remember that every child with a CNV is unique, and symptoms can range from mild to severe.

Symptoms of CNVs

Children with copy number variations (CNVs) face unique challenges that can affect their development and learning. To support these children effectively, a multifaceted approach is essential. Here are some key interventions that can make a significant difference in their lives:

  • Early intervention: Initiating therapy and support services as early as possible is crucial for helping children with CNVs develop vital skills and achieve their maximum potential.
  • Individualized education plans (IEPs): Collaborating with educational institutions to develop customized learning plans can address each child’s unique strengths and challenges, fostering academic and social success.
  • Speech and occupational therapy: These therapies are instrumental in enhancing communication skills, fine motor skills, and daily living activities, aiding in more independent and successful lives.
  • Behavioral interventions: Techniques such as applied behavior analysis (ABA) are effective in teaching new skills, managing problematic behaviors, and enhancing social interactions.

The prognosis for children with CNVs can vary widely based on the specific genetic changes and the individual child. However, with tailored support and appropriate interventions, many of these children can lead fulfilling lives and reach their personal goals.

 

This post was originally published on Sept. 22, 2023. It was updated on April 23, 2024.

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