When will my family be informed of the results from this study? At the end of each year, we will send you a newsletter that will inform you about the progress of the study, as well as the other research taking place in our group. PRegnancy Investigation of Siblings and Mothers (PRISM) of children with Autism We are unlikely to be able to inform you of the findings from this research until the conclusion of the study in 2015 Does my family have to participate in this study? No. Participation in this study is entirely voluntary. You are free to withdraw your consent to participate in this study at any time. Your decision to withdraw consent will not influence your health care or that of your child. All decisions made by your family will be respected by all members of the PRISM study. Who is funding this study? Information Booklet for Parents/Caregivers This study is funded by a five-year project grant from the National Health and Medical Research Council (NH&MRC). Study background Is this study approved? This study has been approved by the Women’s and Newborn Health Service (WNHS) Ethics Committee and the St John of God Ethics Committee (SJGHC). If you have any concerns or complaints regarding this study, you can contact the Director of Medical Services at King Edward Memorial Hospital (Telephone: (08) 9340 2222), or the Executive Officer of the SJGHC Ethics Committee at [email protected]. Your concerns will be drawn to the attention of the Ethics Committee who is monitoring the study. Who do I contact for more information about this study? If you would like to discuss anything about this study, or get more information please contact Jo Granich (phone: 08 9489 7749) or Anna Hunt (phone: 08 9489 7721). Alternatively, you can contact the Chief Investigator, Dr Andrew Whitehouse (phone (08) 9489 7770). Or email us: [email protected] What do I need to do next to participate in this study? If your are interested to be involved in this study, please complete the Expression of Interest Form (attached) and return in the reply-paid envelope (enclosed) to the Study Coordinator. Or contact Jo Granich (phone: 08 9489 7749) or Anna Hunt (phone: 08 9489 7721). Or email us at [email protected] We sincerely thank you for your consideration and look forward to hearing from you soon. This information booklet is for your records. Autism is a developmental condition characterized by difficulties in social interaction and communication, and a restricted range of activities and interests. While we understand that autism runs in families, the exact causes of the condition remain unknown. There are several reasons to think that developmental differences in autism may start prenatally (i.e., in the mother’s womb). For example, many parents report that children with autism show ‘atypical behaviours’ shortly after birth, such as poor eye contact and reduced vocalisations. Furthermore, genetic and neurological factors found to be more common in children with autism, are known to be involved in very early (prenatal) development. However, because autism cannot be diagnosed until early childhood, there is very little known about prenatal development in autism. One way to obtain information is to study pregnancies in which the foetus is at increased genetic risk for autism, such as pregnancies to parents who already have a child with autism. The PRISM study will use this method, comparing pregnancies in which the mother has had a previous child with autism to pregnancies in which there is no family history of autism. We are particularly interested in two aspects of pregnancies: 1. Testosterone: Some researchers believe that autism may be caused by exposure to increased concentrations of testosterone in-utero. We will measure testosterone levels in the mother’s blood and also from umbilical cord blood. 2. Growth: There is some evidence that children with autism may grow faster than other children. We will monitor foetal growth closely. PRISM is a ‘longitudinal’ study. This means that we would like to see you a number of times, starting in midpregnancy and ending when your child turns two years of age. Please read this booklet for more information about the PRISM study. If you would like to take part, please contact us using the details at the end of this booklet. Aim of this study The aim of the study is to identify prenatal biological markers that may be associated with autism. In particular, we would like to know whether autism is associated with: 1. testosterone concentrations measured in the mother’s blood and in umbilical cord blood. 2. growth during the prenatal and early-postnatal period. 5. 1st birthday follow-up We would next like to see your child around their first birthday. At this time, we would like to examine your child’s development. These assessments take the form of simple games with toys, and are designed to be fun for your child. We would also like to collect a saliva sample from your child for DNA at this time point and also measure his/her head circumference. This session will take around 1 hour. You and your family have been approached because you have had a child who has been diagnosed with autism. 6. 2nd birthday follow-up The final follow-up will be around your child’s second birthday, where we will examine your child’s development and growth. Once again, these assessments are child-friendly games that have been designed to be fun for your child. This session will take around 1 hour. What will this study involve? What are the benefits of participating in this study? Why has my family been chosen? 1. Face-to-face meeting Study researchers (Jo Granich or Anna Hunt) will make contact with you to arrange a face-to-face meeting. In this meeting we will explain to you what the study involves and also determine your eligibility to take part. We will ask questions such as: Your child’s early development will be monitored closely. If, based on these assessments, we believe that your child is showing signs of autism, we will notify you immediately. We are unable to provide any formal diagnosis, but will refer you to appropriate services. More broadly, the results from this study will help us to understand more about the biology involved with autism. You could be part of a significant scientific advance. • Do you have a child with an autism diagnosis? How and when was the diagnosis made? • Are you pregnant? How far along is your pregnancy? What are the disadvantages of participating in this study? This meeting will take around 30 minutes and can take place at your home, at the Telethon Institute for Child Health Research (TICHR) in Subiaco or at another place convenient for you. This research involves a significant time commitment. The study will take place over five years, and we will see you and your family a number of times. We will take a number of measures to minimize the imposition of your time, including conducting testing sessions at your home. 2. Pregnancy ultrasounds We will conduct ultrasounds at 5 different points during your pregnancy: 18, 24, 28, 32, and 36 weeks of pregnancy. We will record the growth of your child. These ultrasounds do not affect the development of your child in anyway. At the 18 week ultrasound, we would also like to take a small blood sample from the mother (1 tablespoon). You will also be asked to complete a family questionnaire, which will help us obtain further information about your family. 3. Family session We would also like to obtain information on behaviour and language ability from the biological mother and father, your child with autism, and any other siblings. This information will be obtained through simple tasks as well as through questionnaires completed by the parents. This should take no longer than 1 hour for the child with autism, and 30 minutes for each other person. This session can take place at your home, at TICHR or at another place convenient for you. We would also like you to consider allowing us to collect a saliva sample from biological family members for DNA. This procedure involves simply spitting into a plastic cup. We can then use this information to examine how genetics may influence your child’s development. 4. Birth At birth, we would like to collect a small amount of blood from the umbilical cord. This is a completely painless procedure. The attending mid-wife or doctor will collect a small sample of umbilical cord blood in a test-tube following the birth, and pass this to a researcher who will be waiting in the waiting room. A small amount of discomfort may be experienced when the blood sample is taken from the mother at 18 weeks of pregnancy. A local anaesthetic cream can be applied beforehand to minimise pain. Afterwards a small bruise at the site of blood collection may develop. The Family Questionnaires ask some personal information about the pregnancy and the family. You are able to answer as many of the questions as you like. Importantly, all information is kept confidential and secure. There is a very small chance that our DNA analysis may identify a gene variant that is known to be associated with a health concern. In such a case, we would contact you and discuss the results. How and where will the information collected be stored? Any information we collect from your family will remain private and confidential. We will use the information only for this study. The information will be re-identifiable, which means that we will remove your names and give the information a unique code number. Only the research team will be able to match your names to this code number, if it is necessary to do so. All written information will be stored securely in a locked filing cabinet. All biological samples will be kept in a locked freezer at the Telethon Institute for Child Health Research. Electronic information will be stored on a password-protected computer database at TICHR. We will only disclose information with your permission, except as required by law. Your child’s name or any other identifiable information will not appear on any reports that may arise out of this study. We will retain information (including blood and saliva samples) indefinitely, with 5-yearly reviews. If you would like to discuss the storage of this information now or at any time in the future, please do not hesitate to contact us on the details provided below.