Genitourinary Conditions
The following genitourinary and reproductive conditions have been reported in individuals with chromosome 8p rearrangements, however, limited data makes it challenging to determine the exact relationship between these conditions and the chromosome 8p rearrangements. While the exact prevalence and impact are still being studied, providers should be aware of these potential issues and manage them according to standard clinical practices.
A kidney disorder, also called nephrotic syndrome, where damaged kidney filters cause protein leakage into the urine, leading to swelling (edema).
Puberty & Sexuality
Puberty is a natural stage of development for all individuals, including those with chromosome 8p rearrangements. As children transition into adolescence, they will experience various physical, emotional, and social changes. It is important for families, caregivers, and healthcare providers to approach this topic with sensitivity, providing clear, age-appropriate information to help them understand their bodies and emotions.
Just like their peers, individuals with chromosome 8p rearrangements will go through the stages of puberty, though the timeline and experience may vary. They may experience changes such as:
- Growth spurts
- Development of body hair
- Changes in voice
- Menstruation in females
Open and honest conversations about these changes can help prepare them for what to expect. Visual aids, social stories, or step-by-step explanations can be especially helpful.
Individuals with chromosome 8p rearrangements may require additional support to process and express these emotions related to sexuality. It is crucial to create a safe environment for them to ask questions and express their feelings. Use simple, clear language to explain concepts like personal boundaries, consent, and healthy relationships.
An essential aspect of sexuality education is teaching personal boundaries. It is important to discuss:
- Private and Public Behaviors: Explain which behaviors are appropriate in private versus public settings.
- Consent: Teach them to understand and respect personal space, as well as their right to say “no” in uncomfortable situations.
- Safe Touch: Discuss the difference between safe and unsafe touch in a way they can understand.
Every individual is unique, and discussions about puberty and sexuality should be tailored to their level of understanding and communication abilities. By providing clear information and support, we empower individuals with chromosome 8p rearrangements to navigate puberty and develop a healthy understanding of their sexuality.
- Visual Aids: Use visual supports, social stories, or role-playing to discuss changes and behaviors.
- Repetition: Regularly revisit conversations to reinforce understanding and address new questions.
- Professional Guidance: Consider involving healthcare professionals, such as a therapist or counselor experienced in developmental disabilities, to provide additional support.
Moving Mountains Conference Presentation: Bodies and Boundaries Safeguarding Vulnerable People
University of Michigan Disability Health Research: Sex Education/Puberty Resources for Individuals with Special Needs/Disabilities and for their Families, Partners, Caregivers, and Educators https://disabilityhealth.medicine.umich.edu/sites/default/files/downloads/SexEducationResources.pdf
Vanderbilt Kennedy Center: Healthy Bodies for Girls. https://vkc.vumc.org/HealthyBodies/girls.html
Vanderbilt Kennedy Center: Healthy Bodies for Boys. https://vkc.vumc.org/HealthyBodies/boys.html
- Growth spurts
- Development of body hair
- Changes in voice
- Menstruation in females
- Private and Public Behaviors: Explain which behaviors are appropriate in private versus public settings.
- Consent: Teach them to understand and respect personal space, as well as their right to say “no” in uncomfortable situations.
- Safe Touch: Discuss the difference between safe and unsafe touch in a way they can understand.
- Visual Aids: Use visual supports, social stories, or role-playing to discuss changes and behaviors.
- Repetition: Regularly revisit conversations to reinforce understanding and address new questions.
- Professional Guidance: Consider involving healthcare professionals, such as a therapist or counselor experienced in developmental disabilities, to provide additional support.
Project 8p Insights Portal
To generate the visualization, please select at least one 8p genotype. You may choose multiple genotypes or select all to view insights from all 8p Heroes in the Chromosome 8p Registry.
Search By
Â
This visualization is powered by research sponsored by Project 8p and survey data collected from the Chromosome 8p Registry, representing insights from a total of 120 8p heroes. It is part of the soon-to-launch Insights Portal, designed to offer advanced tools for data analysis, access, and visualizations, accelerating research and discovery for chromosome 8p disorders.
Last Updated 10/30/2024
