Kim, 22q11 Deletion
Caleb, age 9
22q11 Deletion Syndrome
Allison with baby Andrew
Both with 22q11 Deletion
Crystal, age 2
Cat Eye Syndrome
Colin, 9 months
Emanuel Syndrome
Harvey
Cat Eye Syndrome
Jessica, adult
Mosaic Trisomy 22
Malori, 3 years
22q11 Deletion
Makily, age 7
Emanuel Syndrome
Payton, 9 months
22q11 Deletion
Vienna, 9 years
22q11 Deletion
Research
We are happy to help spread the word about studies that are of interest to C22C community members. Email Stephanie if you would like to post a study on this page.
STUDY ON MICRODUPLICATION 22q11.2 SYNDROME:
Invitation to Participate
Title of Study: Delineation of
Clinical Features of Individuals with Microduplication 22q11.2:
A Questionnaire Study
Investigators: Melissa Carter, M.D.,
Rosanna Weksberg, M.D., Ph.D., Irene Drmic,
Ph.D., C.Psych., Leona Fishman, M.D.,
Cheryl Cytrynbaum, M.Sc., Andrea Shugar,
M.Sc., CGC., Evdokia Anagnostou,
M.D., and Wendy Roberts, M.D.
All investigators are affiliated with
The Hospital for Sick Children in Toronto,
Ontario.
If you or your child has been
diagnosed with microduplication 22q11.2 syndrome, you
may already know that there is very
little information in the medical literature about this
condition. We know that individuals
with this syndrome can have average intelligence,
no major birth defects, and no major
medical illnesses. We also know that individuals
with the same microduplication can
have significant problems with learning, behaviour,
growth, muscle tone, and a variety of
birth defects. Individuals with the same duplication
but very different problems can be
found in the same family. In fact, the findings are so
variable that it is difficult to
determine whether the presence of this microduplication
is the cause of these problems, or
simply one of many genetic and environmental risk
factors that work together to
contribute to a given individual’s physical health and mental
development.
We are interested in studying
individuals with microduplication 22q11.2 to learn more
about the medical and developmental
problems that are most likely to be associated with
this condition. We are inviting you
to participate in a questionnaire study in which we
will collect information about
individuals who have this duplication. You must have an
email address and access to the
internet to participate.
For more information, please contact
Dr. Melissa Carter at melissa.carter@sickkids.ca
or 416-813-7654 x28986.
Thanks in advance for your
participation! We look forward to hearing from you.
22q and You Center at Children’s Hospital of Philadelphia - Current studies:
A study examining Genetic Modifiers in the 22q11.2 deletion syndrome. This study is being conducted by Dr. Beverly Emanuel, Chief of the Department of Human Genetics at Children’s Hospital of Philadelphia, and Dr. Bernice Morrow, Professor of Genetics at Albert Einstein College of Medicine. DNA samples are being collected from affected individuals and their parents to investigate the causes of the 22q11.2 deletion and determine the genes that influence the clinical presentation of these patients.
The second is a study headed by Dr. Raquel Gur, a psychiatrist at the University of Pennsylvania, examining Brain and Behavior in individuals with 22q11.2. Participants give a blood sample for research, play a game on the computer, and speak with a Psychologist at the University of Pennsylvania about their feelings and emotions. Additionally, if the participant is eligible, he or she may undergo an MRI of the brain.
For further information, contact:
Alice G. Bailey
Clinic Coordinator, 22q and You Center
The Children's Hospital of Philadelphia
34th Street and Civic Center Boulevard
Philadelphia, PA 19104
.
Survey of Emerging Adulthood
Researchers from the University of Newcastle in Australia are currently investigating how young people with a mild intellectual disability (ID) are transitioning into adulthood.
The aim of our study is to better understand why some young adults, particularly those with a mild ID find this time in their life problematic and why some find it difficult to cope. Participants don't have to have experienced
any problems to complete the study.
We are currently recruiting three groups of participants.
These are young people aged 18-30:
- With velocardiofacial syndrome (VCFS) / 22q11.2 Deletion Syndrome
- With a mild intellectual disability of idiopathic (unknown) origin
- Siblings of individuals with either VCFS or a mild ID of idiopathic origin, who themselves do not have an intellectual disability or genetic deletion.
The study would involve completing a series of online questionnaires relating to general mental health symptoms as well as the process of growing up and personal expectations for the future.
It would also involve completing an online problem-solving task at a later date, and returning a saliva swab that we would post in the mail.
Anyone interested in participating can simply go to www.emergingadulthood.org and complete the online survey battery.
For further information please contact emma.gallagher@newcastle.edu.au
Provisional Psychologist
Project Officer
Healthy Lifestyles Program
Centre for Brain and Mental Health Research
Mater Hospital
22q11 Study
We have formed an international consortium of scientists to understand the cause of variable symptoms in association with the typical 22q11.2 deletion.
Our goals are to identify genes that could explain why some VCFS/DGS/22q11DS patients have cardiovascular defects while others do not, as well as to see if any of those genes contribute to heart defects in the general population.
We are actively recruiting children and adults with the syndrome that either have or do not have heart (and/or vascular) defects. We are collecting saliva samples from children over the age of 5 yrs and their healthy parents. Personal information will be kept confidential. We do not provide results because its a population study. If you are interested in participating please email Bernice Morrow (Albert Einstein College of Medicine, NYC) at bernice.morrow@einstein.yu.edu
Study of Polymicrogyria and 22q11 deletion
The laboratory of Dr. Christopher A. Walsh at Children’s
Hospital and Harvard Medical School in Boston is searching for
genes that are involved in brain development. We are currently
enrolling individuals in our research who have a chromosome
22q11 deletion and polymicrogyria. Polymicrogyria (PMG) is
diagnosed by brain imaging (usually an MRI) that shows multiple
smaller folds than usual in the brain. We suspect that there may
be genes involved in brain development and function located in
the 22q11 region.
Families wishing to participate would be asked to provide a copy
of the brain imaging (on a disk) some background medical
information and records on the person diagnosed with PMG.
It is also necessary to review our study consent with a study
coordinator and then send samples on the person with PMG and
both parents if possible. Families do not need to travel to
Boston to participate and there should be no cost for
participation.
For more information about this study, please contact the study
coordinators: Brenda Barry, MS, and Jennifer Partlow, MS
atwalshresearch@childrens.
For more information about the Walsh Laboratory please visit www.walshlab.org.
22q11.2 Deletion Syndrome (Velocardiofacial Syndrome)
Autistic Spectrum Disorders and Brain Structure Research Study
Many people with 22q11.2 Deletion
Syndrome (Velocardiofacial Syndrome) have a greater chance of
having attention deficits, learning disabilities, and particular
psychiatric conditions such as autistic spectrum disorders.
While there is no known cure for this genetic syndrome, there is
a lot of exciting research happening in this area. UCLA
investigators have recently begun a study to further expand
knowledge of 22qDS in humans. This research study is conducted
jointly by investigators Carrie Bearden, Ph.D., UCLA Departments
of Psychiatry and Biobehavioral Sciences and Psychology, and
Katrina Dipple, M.D., Ph.D., UCLA Departments of Human Genetics
and Pediatrics.
The goal of the study is to examine emotional adjustment,
thought processes such as memory and attention, and brain
structure and activity in children and adolescents with 22qDS,
as compared to children and adolescents without the disorder.
The study also aims to determine whether variation in the
specific genes affected by 22qDS is related to differences in
brain structure, function and behavior. Funding for this study
is provided by the UCLA Center for Autism Research and Treatment
(CART) and the National Institute of Mental Health (NIMH).
WHAT WILL PARTICIPATION INCLUDE?
Baseline participation may take between one to two days (~7
hours for all study procedures). Participants will be given
paper and pencil and computer tests of memory, attention and
logic, and interviews about their mood, thoughts and behaviors
by a trained staff member at the UCLA Center for Cognitive
Neuroscience, and an MRI scan at UCLA’S Brain Research
Institute. These tests will help us to learn more about how the
brain works in people with 22qDS. The study also involves a
review of medical records, to get information about birth and
medical history, and an optional blood or saliva sample obtained
from both you and your child, to determine whether the genes
affected by 22qDS may be related to differences in how the brain
works. Some of the study procedures will be repeated at 2
follow-up timepoints. All procedures will be explained carefully
and all participation is completely VOLUNTARY. You may withdraw
from the study at any time. There is no financial obligation on
the part of the participant.
Participants will be compensated up to $260 for full
participation in all of the study visits and will also be
compensated for travel expenses and lodging at UCLA.
Participants will also receive a comprehensive report detailing
the results of the assessment.
This is not a treatment study; however, it is hoped that the
information gathered from this study may help to develop
treatments for the disorder in the future.
WHO MAY BE ELIGIBLE TO PARTICIPATE?
1. Individuals between the ages of 6 to adult, with a confirmed
diagnosis of 22q11.2 deletion. 2. No diagnosis of a disorder of
the brain or nervous system (such as encephalitis, brain tumor,
etc.) 3. No current drug or alcohol abuse 4. Able to complete
the study measures and interviews in English.
CONTACT INFORMATION
If you are interested in finding out more about this research
study, please call Jennifer Ho at (310) 825-3458 or email:beardenlab.ucla@gmail.com .
You may also contact the Principal Investigator of the study,
Dr. Carrie Bearden, atcbearden@mednet.ucla.edu
*Individuals under 18 must have
their parents call. Principal Investigator: Carrie Bearden,
Ph.D. Department: UCLA Semel Institute, Dept of Psychiatry and
Biobehavioral Sciences.
VOLUNTEERS NEEDED FOR CHILDREN’S STUDY
VCFS is short for Velo-Cardio-Facial Syndrome. VCFS is a medical condition which is caused by the deletion of a small part of one of a person’s two chromosomes 22. The deletion occurs on the longer arm (or Q arm) of the two arms of this chromosome 22. Another name for VCFS is therefore 22Q11 Deletion Syndrome (or 22Q11DS). VCFS is sometimes also referred to as DiGeorge syndrome, particularly when children have heart problems.Children with VCFS can experience learning difficulties. They may also experience behavioural problems at home and in school and may find it more difficult to make friends. Sometimes, their thinking and speech may be difficult to follow or may seem unusual to others. It is not clear at the moment to what extent children with VCFS are at risk for these problems.
Researchers also don’t know to what extent the genetic deletion plays a role in the behavioural and thought problems some children with VCFS experience. It is possible that the learning difficulties that children with VCFS can have contribute to their risk of behavioural and thought problems. However, if and to what extent they do is not understood.
Understanding more about the relations between learning, behavioural and thought problems in children with VCFS may lead to more effective methods of treatment and prevention, thus improving the lives of children and families affected by this disorder.
Our study aim is to better understand the developmental pathways of VCFS. We therefore are interested in assessing the behaviour, and the psychological and intellectual functioning of children with VCFS.
The study has ethical approval and is conducted by University Hospital Cardiff. Dr. Marianne van den Bree is the principal investigator.
Participation involves:
- Assessment of the child’s symptoms via clinical interview with the parent.
Participation in this project is
entirely voluntary. All participating families will be
reimbursed for their time. All information gained from the study
will be confidential. You are free to withdraw from the study at
any stage.
If participating families like to, we can provide their
clinician with the information gathered in the study and this
may be helpful for treatment. We hope that the project will
provide greater insights into the development of 22Q11DS and
this may in turn contribute to the development of new treatment
strategies in the future.
Your family may be eligible for the study if:
- You have a child who is 7-11 years who has been diagnosed with VCFS.
If your child has a sibling who does not have VCFS we would also ask them to take part. However, families of children with VCFS who do not have a sibling can still take part.
For more information please contact:
Anna or
Hayley on 029 2074 4002, E-mail: echo@cardiff.ac.uk
Dr Marianne Van den Bree, Cardiff
University Hospital, Department of Psychological Medicine,
School of Medicine, Cardiff University, Heath Park, Cardiff,
CF14 4XN.