Guest Author - Bonnie Sayers
After both my sons were diagnosed with autism in 1998 and 1999 we registered with the Autism Genetic Resource Exchange (AGRE), which at the time was located in Philadelphia. This is a genebank for families that have more than one family member diagnosed on the Autism Spectrum. AGRE is funded through Cure Autism Now (CAN).
Both organizations are now headquarterd in Los Angeles, California, which is where we reside. I started the process with a phone call and then did interview on the phone to collect some data. There is a registration questionnaire and medical records release forms for each family member with autism, aspergers or PDD.
The process includes an intake evaluation, blood draw by a well trained Plebotomist, biological observation questionnaire, AGRE family history questionnaire. The AGRE questionnaire is aimed at parent's observations of biological and behavioral symptoms.
The participation process
Included in the blood draw is both parents. Since their father has never lived with us I had to ask him over and explain the process to him. This experience of drawing the blood was not a difficult process. Ed was a previous Plebotomist that AGRE employed and also worked at Children's Hospital in Los Angeles and was very easy going. He was able to draw blood from Matthew while he was on his bed drinking a bottle. Nicholas turned out to be more traumatized and needed his teddybear for the draw.
Families taking part in the AGRE program the family's DNA is avaialble to all scientists and not just one researcher or university. " By becoming an AGRE family, you will be makign history, and you will be making one of the most significant contributions towards finding treatment or a cure for autism that anyone, including scientists themselves, can make."
The very first AGRE newsletter, Listening to You was published in the Spring of 1999. I submitted Nicholas and Matthew's pictures for one of those newsletters back in 1999/2000. Now you can read the newsletters online and apply as well.
All the interviews and testing was done in the home and videotaped. Dr. Andrew Smith did the initial evaluations in March of 2000 and returned in December of 2000 with Dr. Sarah Spence. In April of 2001 records were requested. This included any MRIs, CT scans, EEG (brainwave) tests, initial evaluations by the Regional Center, any neiuropsychological testing (IQ tests) or developmental tests.
Nicholas had been hospitalized at three months of age for potential meningitis, so the Dr was interested in obtaining those medical records. These records were requested to understand the bigger picture of autism in the boys and the family. I was mailed medical release forms at this time also. I am not sure if I had done these forms prior to this request.
In October of 2002 I received an AGRE Family Update letter that mentioned AGRE collaborating with the National Institute of Mental Health (NIMH), Human Genetics Initiative. My signature was required on a Consent Addendum so that the family's data could be shared with the AGRE/NIMH repository.
In April of 2003 I received a letter from Dr. Spence, who at the time was the AGRE Medical Director. This was in response to my requesting the assessment scores of my children's testing. This letter mentioned that since they downsized and moved the program from Philadelphia to Los Angeles at the end of 2001, there was a delay of several phases of the AGRE program, which included summary letters.
With the award of the major grant from NIMH they were in the process of hiring more staff for a renewed recruitment effort. To my knowledge I have neve received those scores.
In February of 2004 I received a request for Nicholas and Matthew to participate in a social responsiveness scale study (SRS). This study required an unbiased measure of observed behavior for each child in the school setting by a teacher who had known them for at least two months. The survey included a $15 gift card for the teacher to complete the survey in the fifteen minutes it would require.
They did include a stamped envelope, which Matthew's teacher used to send it back. Nicholas's teacher sent home her copy, which was great so I could read it and make a copy for my records. This was when Nicholas was in the second grade and Matthew in the first grade.
For this study AGRE was working with Dr. John Constantino of Washington University in St. Louis, Missouri. The 65-item raing scale was analyzed by the Dr. and shared with approved AGRE researchers. The same scale had to be filled out by one parent as well.
Some of the questions in this study -
Takes things too literally and doesn't get the real meaning of a conversation.
Is able to understand the meaning of other people's tone of voice and facial expressions.
Has good self-confidence.
Doesn't recognize when others are trying to take advantage of him/her.
Has good personal hygiene.
Stares or gazes off into space.
Seems oversly sensitive to sounds, textures or smells.
Gets teased a lot.
The responses were -
not true, sometimes true, often true or almost always true.
I found the questions very interesting and learned a great deal from taking it and keeping a copy for further observations in the years to come. In October of 2006 there was an email request sent to the Los Angeles Cure Autism Now list serve asking for volunteer families to allow a new Clinician to assess their children for practice purposes.
I responded and it was completed last week. The Clinician was a former school teacher for a wide variety of age groups. We decided the computer room was best suited for Nicholas to be tested and videotaped on one day and a return a few days later for Matthew to be done in the kitchen.
There are four modules for the testing. Matthew was done at the lowest for low functioning children. The clinician has a large blue suitcase filled with notebooks and toys for all these testing modules. The testing kits are all bybWestern Psychological Services. Nicholas was tested at the third module, which is for higher functioning children. The second module is for kids who can talk in sentences and the fourth is for those who are teenagers and older. Their testing includes curfews and responsibilities.
Currently there are three Clinicians for the United States. Due to laws AGRE is only within the United States. Matthew took less than an hour with Nicholas's lasting more than one hour. For Matthew there was a baby doll and birthday goods to use playdough for having a party. There are bubbles and cars as part of this module.
I was in the living room off an on while Nicholas was doing his testing and heard some of the instructions given to him. One had him read a story and then stand up and recite what he just read for the camera. Another time the clinician had some questions that had some idioms in them and he had to respond to these. He also looked at a map of the USA and had to name places. He played make believe with some fire fighter toys and trucks.
Nicholas said he enjoyed playing and liked helping out for research into autism. All the testing is done in the home with clinicians traveling for two weeks at a time to various areas of the country.
It was a good experience to see what the testing entailed since it had been over six years since we took part initially. Since Matthew has been videotaped several times over the years for his feeding therapy he was not too bothered by the camera, but did not really partake in a lot of the playing of the toys. He did give good eye contact a few times and a smile here and there.
A few days later we received a box from Cure Autism Now that contained a game for the family with thanks from the Clinician. It was a positive experience all around. I encourage families that have more than one child or family member on the Autism Spectrum to contact AGRE and take part in the research.
Family Contact Form
Fall 2006 AGRE Newsletter This states it can take up to a year to be seen due to the number of families signing up.
We were told they will be hiring another new clinician soon and asked if we woudl volunteer for that person also. This is good news for researchers to find the cause of autism and help families. Consider signing up your family if there are at least two members on the Spectrum.