FAQ

What Causes PTLS?

The duplication on chromosome 17p11.2 is caused by an error that happens during the formation of the egg or sperm. There is nothing that a parent might have done to cause this condition, nor is there anything that a parent could have done to prevent the duplication.

What Does A Gene Look Like?

Each chromosome has grey and white bands. The duplication occurs in the upper arm on chromosome number 17. It is located in the “p” (which is the upper part) in the 11.2 area. This duplication can range from very small to very large, and reach into the area bands, like with CMT (Charcot Marie Tooth). Here is a detailed article, with pictures, about Duplication 17p11.2 and the earlier day findings.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852712 to prevent the error from occurring.

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What Should I Expect In The Future For My Child With PTLS?

Every individual with PTLS is unique and it is impossible to know exactly what to expect. However, many individuals will have some level of independence, but still have some degree of developmental delay. In addition, many individuals display some behaviors similar to those seen in patients with autism spectrum disorders.

Does This Mean That My Child With PTLS Will Have Autism?

No, but they might show some features such as difficulty with interpersonal skills, repetitive behaviors (like OCD), or other unusual behaviors, and anxiety issues.

Is There A Cure For PTLS?

This is not a disease. Because the duplication of genetic material exists in every cell of the body, there is no way to “cure” the syndrome at present. However, physical / occupational / speech therapy can help children overcome some of the developmental delays. If significant cardiac defects or sleep apnea are detected, these can often be treated medically or surgically.

Are The Offspring Of The Child With PTLS At Risk?

This question can only be answered by your geneticist or genetic counselor. There is a 50% chance of your PTLS child passing it on to their child.

Where Can I Get More Information About PTLS?

Since this syndrome has only recently been described, physicians are still in the process of learning about it. Joining the family support group is also a great way to share information and ideas. If you would like to share information with your primary physician, Baylor College of Medicine, Houston, will provide you with a reprint of their recently published article upon request.

What About School?

School is something to begin to look into. Your child can be eligible to begin Early Childhood Programs when they are 3 years of age. Before that, look into local government services to help with physiotherapy and speech therapy. ABA therapy will be another program the school will guide you through. Many of the children benefit from being placed in a “typical” classroom setting, getting pulled out for specific help. They benefit greatly from being around children of their own age, to help them with skills and behaviors expected of them. See the link for IEP(Individual Education Plan) and understanding the IEP.

Any Helpful Tips To Help Me?

Many children seem to progress extremely well when they are around other “typical” children they can imitate. Though they may not interact, they do observe and this helps greatly with speech development. Be patient and know your child has great possibilities. It seems that 4-5 years of age it when many of them take a huge leap in their development. The developmental milestones will come in large waves. Please do not measure your child’s progress with others. Your child will mature and with maturity comes many wonderful changes.

Needing Support?

“I have been “going-it-alone” since my child was diagnosed with PTLS and I am now realizing that I could benefit from support from other parents in similar circumstances. Where can I find a support group?” There are various locations to find support. Many groups for special needs parents can be found in your local area. We welcome parents, caregivers, family members, educators/therapists, those in the medical community to join the PTLS Outreach Foundation forum. Register to join the discussion boards and gain insight and support from fellow parents and caregivers of PTLS children. You can also get more personalized support through email (info@ptlsfoundation.org) and phone the foundation at 214-435-8288.

How Can I Help?

A clinical research protocol and a molecular research protocol have been established at Texas Children’s Hospital in order to learn more about dup 17p11.2 syndrome. Please feel free to contact the study coordinator for more details.