Frequently Asked Questions (FAQ)

 

I don’t remember my login information or the Registry is not accepting my login information, help!

First thing to do is click on “Forgot login?” on the top right of the webpage. If you remember your Username, but not your login, click “Lost Password.” You will be able to enter your Username and Email Address to have the password reset for you. If you don’t remember your Username or Password click on “Lost Username.” You will be able to enter your Email Address and both the Username and a new password will be sent to you. NOTE: the Email Address must be the one that is associated with your account. If you have a personal email address and a work email address, make sure that you are entering the one associated with your Registry account. If you cannot remember which email address is associated with your Registry account or you have any other problems, that’s okay! Email Rebecca or Jackie at This email address is being protected from spambots. You need JavaScript enabled to view it. and we can retrieve it for you!

Does it matter what kind of browser I use to access the Registry (e.g. Google Chrome, Internet Explorer, Firefox)?

In general, no it should not matter which Internet browser you use. However, we have found that Internet Explorer tends to have more security updates added throughout the year that can accidentally block parts of the registry or make things not work well. To avoid any issues that might come up, you may want to consider using Firefox, Google Chrome, or Safari. These seem to not have the same issues.

I am being urged to update my consent preferences or re-consent. I think I have, but I’m not sure. How can I tell?

If you are able to log into your account and can access any questionnaire or upload any records to your profile, you have successfully made those changes! If you have not updated these consent preferences, you will be stuck on the main page of your profile, and won’t be able to do anything else in the registry without updating your preferences.

I have more than one child with Phelan-McDermid Syndrome. How do I put all of their information into the Registry?

If you have more than one child affected by PMS, you will need separate Registry accounts for each child. Don’t worry, you can list the same parent and email address when you set up these accounts; the usernames will be different, and of course each account will only hold the information regarding that one child.

What is the PMS_DN and what does it have to do with the Registry?

The Phelan-McDermid Syndrome Data Network (PMS_DN) was announced at the 2014 Family Conference. This is a joint project between the PMS Foundation and Harvard Medical school, which will aim to increase the size of the PMS community and the type of information (including medical records) in the Data Network. As part of the PMS_DN we hope to help you engage with your physicians and obtain electronic copies of your child’s medical records. With the updates to the consent preferences, you can now decide whether or not you would like what you’ve uploaded to the Registry to be included in the PMS_DN.

How can I submit my genetic reports?

The best way to submit your genetic reports and other medical records to the PMSIR is to upload an electronic copy. (See #7 below for instructions)

You can also fax reports to 866-606-8841, or e-mail it to This email address is being protected from spambots. You need JavaScript enabled to view it.. Please keep in mind, that although we consider our email secure, we cannot guarantee 100% security. That’s why we prefer that you upload it directly to the PMSIR.

Please send ALL of your reports ( Glossary Link karyotype, Glossary Link FISH, microarray, Whole Exome Sequencing, etc.). We have learned that of all the information in our registry, the genetic data is what researchers need the most.

How do I upload the genetic report(s)? 

In order to upload your genetic report(s), click on the “Attachments” tab in your account. Use the drop down menu to select the “Type” of document you want to attach (i.e., Genetic Test Results) and then click on “Choose File” in order to browse your computer to find the appropriate file. When the document is correctly identified in the “Choose a file to upload” field, click on the “Upload” button and your document will be saved in your account in the PMS International Registry.

What if I don't have the answer to all of the questions in the questionnaires?

It’s okay if you don’t know or remember the answers to all of the questions. Do the best you can. Please do not leave answers blank. Indicate “no”, “unsure” or “N/A” rather than skipping a question. Remember that you don’t have to complete all the questions all at once. Your answers will be saved and you can return to finish the questionnaire.

My child is under 12 years old, am I supposed to answer questions on the Adolescence and Adult Issues Questionnaire?

No, this questionnaire is only for those 12 years and older.

How often can I update my child's registry?

It very important to update your data every year or when something significant changes in your child’s medical history. Consider picking a date on your calendar and set a reminder to go off every year to make sure you don’t forget. Also, please don’t change the individual answers in questionnaires you completed before. Please re-take the entire questionnaire every year. We know that sounds like a lot, but if you change individual answers from past questionnaires, we lose your past answers, so we can’t see how your child is progressing over time. Save the data! Re-take the whole thing!

Do you have advice on how to request my child’s genetic lab results?

Yes, we do!

  • Option 1 – Tell the doctor who ordered the test (or their nurse or front desk) that you want a copy of the report. They will probably have you fill out and an authorization form. In some cases you might need to go through the medical records department at the hospital rather than through your specific doctor. REMEMBER! HIPAA (Health Insurance Portability and Accountability Act) gives a parent or legally appointed caregiver the right to the child’s medical records, with just a few exceptions: some confidential psychiatric records, if the child is an adult (some hospitals say 14, others 18). If anyone says “no” or gives you a hard time, they may be breaking the law (there are exceptions and the state’s laws do apply and may change this slightly). If your child is over 18 but is not able to manage their own care, you do have to take extra steps to prove that you are their “personal representative” or medical/general power of attorney. Ask your doctor’s office or hospital how to go about making this official and documented.
  • Option 2 – If for any reason the doctor does not have a copy, ask if they know which laboratory performed the genetic test. If yes, contact the lab (Google the name and call or email, informing them that you are requesting a test report). Submit to them an “authorization to release healthcare information” form (available on their website or upon your request). Hopefully you will not have to do this, as doctor’s offices are required to keep complete medical records, but they are allowed to destroy records after a really long time (typically 10 years or more but it varies), and of course things like floods and fires happen that can destroy records.
  • Option 3 – If your child has participated in any research studies that involved genetic testing, contact the research team to find out if they can share your child’s genetic findings with you. Be prepared though, some research studies are not allowed to share these results.
  • Option 4 - Consider participating in a research project that includes chromosomal microarray (please be sure to verify that your child’s genetic findings will be returned to you).
Is my child’s genetic test “up to par” or up to date? Should I ever consider repeating it?

Ideally, every patient in the Registry will have either some type of microarray that shows their deletion, or a sequencing test of the SHANK3 gene showing their Glossary Link mutation. If the patient has only had a karyotype, then it is worth asking if a microarray would be appropriate (Disclaimer: this only applies to people with a diagnosis of PMS, or with features consistent with a genetic condition, in whom a genetic evaluation has been recommended, and a Geneticist or Genetic Counselor has recommended testing. New guidelines say that any child with a diagnosis of Autism is recommended to have a microarray). That being said, in some cases the older microarrays couldn’t give us all of the information we can get now. This will vary case by case, but we will contact you if your array needs to be updated.

Need more help?

Email us at This email address is being protected from spambots. You need JavaScript enabled to view it.