The following are publications, articles or reports related to 22q11.2 research. The International 22q11.2 Foundation only posts content from reputable researchers or research institutions. In cases where summaries or overviews are provided, they are written for us or reviewed by our scientific and clinical advisors or other members of the 22q research community. Whenever possible, we will provide a link to a more detailed source of information for those who wish to understand the more technical aspects of the research findings.
New article published by 2 of our very own medical advisory board members in Immunology Journal supports our advocacy work related to newborn screening for 22q. Newborn Screening for a disease called SCID (Severe Combined Immunodeficiency) is picking up infants with 22q in infancy but those without immune problems are being missed leading to an average age of diagnosis closer to 4 years old. This is why we must continue to advocate for Newborn Screening specifically for 22q so no child goes undetected. Early diagnosis supports better long term outcome. To view complete article click here.
A collaborative group of researchers recently reported an important link between three genes within the 22q11.2 deletion and development of the kidney and urinary tract. The loss of one gene in particular, Crkl, alone is enough to cause kidney differences. The researchers found that a small percentage of patients followed in kidney clinics for small or absent kidneys actually had the 22q11.2 deletion. Although these patients were unaware that they had the 22q, some later reported having symptoms commonly associated with the 22q11.2 deletion. Significantly, this serves to highlight the frequency of the deletion and the fact that there are likely many many patients in our own communities who have not yet been diagnosed with 22q11.2 deletion syndrome due to the fact that they don’t have congenital heart disease as a presenting symptom. This report certainly helps to support our plea for early identification using newborn screening! To view the complete article click here.
The International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome is a large scale effort among 22 clinical institutions and 5 genetics focused centers across North America, Europe, Australia and South America, led by The Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn). Click here to read more.
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. Read more http://www.nature.com/articles/nrdp201571
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9,500 pregnancies: June 2015
A recently released paper examining the results of a study involving 9,500 pregnant women in Europe, by a group of eminent European researchers, found the 22q deletion and duplication to occur in as many as 1 in 1000 births. This is a significant increase in the estimated prevalence of 22q11.2 deletion and duplication syndromes and translates to approximately 320,000 Americans and over 6 million worldwide and represents the most accurate figures to date. Click here to read more.
This 2011 article in the Journal of Pediatrics, while written primarily for professionals, provides families with a highly descriptive diagnostic and treatment description. Families may wish to share it with their child’s treatment and intervention professionals. Click here to read more.
The ­International 22q11.2 Foundation, along with the former VCFS Foundation, was pleased to help provide the American Cleft Palate Association’s VCFS/22q11.2 DS college scholarship to a very deserving individual who, though diagnosed with Velo-Cardio-Facial Syndrome, has persevered, accomplished great things, and is poised to do even more! See below to read Caitlin’s biography. Congratulations Caitlin!
At age five I was diagnosed with Velo-Cardio-Facial Syndrome and underwent surgery at age six to correct my soft palate dysfunction. I had several years of speech therapy that helped correct the pre-surgery deficiencies.
I will be attending college and plan to study music. I envision being a collaborative pianist for professional soloists and groups. Since beginning piano at age 5, I have continued playing and performing for many venues and groups. In addition, I have played on drumline in marching band, as well as playing marimba for concert band throughout high school. I also had leadership roles in band. I was an active member of my high school Future Business Leaders of America club and competed in regional competition for our chapter.
I regularly accompany a local children’s choir. Working with the kids has been fun, but also challenging (at times) to keep them focused! As you can see, music has played an important role in my life, and I look forward to what the future holds for me.
In 2013, families in the 22q community were asked to participate in a University of North Carolina and Duke University research survey regarding the siblings of those with 22q. We are pleased to report that the results of that study were published in the Journal of Genetic Counseling. The conclusion of that study included, “While the majority of parents who participated in this study communicated medical and behavioral information, genetic information was communicated less often. Consequently, siblings scored high on medical and behavioral knowledge but had lower scores on genetic information knowledge. This study indicates a discrepancy in the communication and understanding of genetic information compared to communication and understanding of behavioral and medical information among unaffected siblings of children with 22q11DS. Healthcare professionals, including genetic counselors, can help develop age-appropriate print and online resources for siblings that discuss genetic information and reproductive risks as well as the medical management and future care of a child with 22q11DS.” The full article can be seen here.
Study finds that a subset of children often considered to have autism may be misdiagnosed: Research finds rigorous evaluations are needed to accurately diagnose autism in children with 22q11.2 deletion syndrome (2013)
“Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests. The study is the first to examine autism in children with chromosome 22q11.2 deletion syndrome, in whom the prevalence of autism has been reported at between 20 and 50 percent, using rigorous gold-standard diagnostic criteria. The research found that none of the children with 22q11.2 deletion syndrome “met strict diagnostic criteria” for autism. The researchers said the finding is important because treatments designed for children with autism, such as widely used discrete-trial training methods, may exacerbate the anxiety that is commonplace among the population.” The full article can be seen here.
Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, this is the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues in adults with 22q. There are practical strategies for the recognition, evaluation, surveillance, and management of these issues. The full article can be seen here.
Summary: The first paper published from the International 22q11.2 Brain and Behavior Consortium (IBBC) was accepted in December 2013 and available to the public shortly thereafter. Although it was a baby step towards fulfilling the main goal of the Consortium – to better understand the brain and behavior in those individuals with the 22q11.2 deletion syndrome (22q11.2DS) and ultimately lead to better ascertainment of at-risk persons as well as developing better intervention strategies – it was a major leap towards bringing the world’s best and brightest minds together to help understand the one feature of the condition that is often the most scary for families, psychiatric illness. Importantly, the paper reported findings on 1,402 patients, ages 6-68 years of age, which would never have occurred without the establishment of the IBBC. Notable findings included ADHD, anxiety disorders and psychosis which validated previous studies suggesting that the 22q11.2 deletion is associated with these conditions and conversely that the 22q11.2DS will provide insight into better understanding these behavioral differences. Moreover, these results highlight the need to monitor for these associated conditions as early intervention leads to better long-term outcome.
About the Consortium: The International 22q11.2DS Brain and Behavior Consortium is a large-scale effort to study the genetics of schizophrenia and other psychiatric disorders associated with chromosome 22q11.2 deletions. With 12 million dollars in support over four years from The National Institute of Mental Health of the National Institutes of Health in the United States of America, this multi-center initiative is examining phenotypes across the life span while utilizing whole genome sequencing in search of phenotype-genotype correlations with the ultimate goals of improving detection, treatment and long-term outcomes. Professor Raquel Gur, overall Co-Director of the Consortium stated, “The funding from the NIH will provide us with the opportunity to advance the understanding of this under-recognized neurogenetic condition. The knowledge generated can provide a window to the brain that will benefit millions throughout the world.” Beyond the potential for yielding a better understanding of a severe manifestation of 22q11.2 deletion syndrome, the results will help identify pathways leading to schizophrenia in the general population in a way that will inform novel treatments. There is a substantial risk for developing psychotic illness in approximately 25 to 30 percent of adolescents and young adults with 22q11.2 deletion syndrome. The illness presentation and course are similar to those of schizophrenia, which occurs in the general population at a much lower rate (about 1 percent). The collaborating Consortium sites have extensive experience in applying integrative genomic and brain-behavior strategies to study individuals with 22q11.2 deletion syndrome and schizophrenia across the lifespan, and together will have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome: the largest such available sample to date. The genomic efforts will include whole-genome sequencing in order to uncover genetic variation that may contribute to the heterogeneity of neuropsychiatric and neurobehavioral phenotypes of schizophrenia and psychosis. “The project is an unprecedented international initiative to examine a common deletion associated with schizophrenia and elucidate its genomic and behavioral substrates,” noted Dr. Gur. Professor Donna McDonald-McGinn, overall Co-Director of the Consortium, added further, “Not only does this successful grant application demonstrate the genuine commitment on the part of the National Institute of Mental Health to better understand the brain and psychiatric illness, but it highlights the need for such international partnerships. In this instance, 22 clinical and 5 basic science collaborating sites, all with extremely dedicated clinicians and researchers who have overcome the challenges of differing cultures, languages, time zones, and healthcare systems, are working toward the common goal of improving patient care and long-term outcome.” More information.