Advances in

January 2013 Autism Center Balances Commitment to Clinical Care SPECIAL EDITION For All Ages and Advanced Research

ooms at NewYork-Presbyterian Hospital’s R Center for Autism and the Developing Brain were designed as flexible spaces that will allow the Center to provide multimodal treatment to patients diagnosed with autism spectrum disorders (ASDs) and other developmental disorders of the brain. The Center—opening in spring 2013—will provide services for patients throughout their lives, and also will work to further research into ASDs. The Center is a collaboration among NewYork-Presbyterian Hospital, Weill Cornell SAVE THE DATE Medical College, and College Computer rendition of flexible space in the Center for Autism Brain Attack and of Physicians and Surgeons, in partnership with and the Developing Brain. Cerebrovascular Disease New York Collaborates for Autism, and is located Update 2013 about 25 miles from Manhattan on the Hospital’s March 8, 2013 214-acre Westchester Division campus in White care. We will affiliate within our own institutions, New York Academy of Medicine Plains, New York. The Center aims to translate Weill Cornell and Columbia, and with nearby and New York, NY cutting-edge research into clinical care and educate distant autism programs from NYU to UCLA Brain Tumor Biotech families and school staff about ASDs and ­related and UC Davis, to do neurobiologic and large-scale Summit 2013 disorders. The multidisciplinary team includes intervention studies, but the core of our Center is June 7, 2013 psychologists, psychiatrists, social workers, speech small and focused on clinical care.” Weill Cornell Medical College and language therapists, and behavioral therapists, The care of patients with ASDs has been the focus New York, NY among others. of Dr. Lord’s career since participating in undergrad- Advanced Endoscopic Catherine Lord, PhD, attending psychologist uate investigations into the effectiveness of a behav- Skull Base and Pituitary at NewYork-Presbyterian/Weill Cornell, and Pro- ioral intervention meant to help ­socialize children Surgery, Hands-on fessor of Psychology in Psychiatry and a DeWitt with autism. Later, Dr. Lord codeveloped renowned Symposium Wallace Senior Scholar at Weill Cornell Medical screening tools, such as the Autism Diagnostic June 14-15, 2013 College, will lead these experts as Director of the Observation Schedule, designed to aid clinicians in Weill Cornell Medical College Center for Autism and the Developing Brain. recognizing autism in patients of ­varying ages, and New York, NY “What is different about our Center is that we participated in numerous studies on treatments for For more information and to are very focused on providing the highest ­quality autism that involve peer-, family-, and school-based register, visit nyp.org/pro or clinical services that we can in the context of interventions. At the Center, Dr. Lord believes this e-mail [email protected] being part of a major research institution,” said range of experience will allow her to guide clinicians Dr. Lord. “There are a number of big autism cen- toward the best treatment for each patient, ra­ther ters that have numerous, very high-powered fac- than employing a standard, specified treatment ulty in basic sciences and clinical sciences, but our regardless of patient and family needs. primary focus is on how to provide the best clinical See Autism Center, page 3

Dr. Jeffrey Lieberman Elected APA President Jeffrey A. Lieberman, MD, Psychiatrist-in-Chief at NewYork-Presbyterian Hospital/Columbia University Medical Top Ranked Hospital in New York. Center and the Lawrence C. Kolb Professor and Chairman of Psychiatry at Columbia University College of Twelve Years Running. Physicians and Surgeons, has been elected the next President of the American Psychiatric Association (APA). NewYork‑Presbyterian Hospital is Dr. Lieberman, who is also Director of the New York State Psychiatric Institute, will begin his term as APA ranked 5th in the nation in Psychiatry. President in May 2013. Advances in Psychiatry

Genetics Research Across Medical Specialties Now Yielding Secrets and Fueling Progress

The decoding of the human genome and subsequent concerted efforts by physician- as brain-derived neurotrophic factor, and scientists to decipher the relationships between specific genes and the diseases they their affect on the pathophysiology and influence have already yielded tremendous advancements in medicine. This work is treatment of affective disorders.3 fostering important strides in understanding and caring for people with diseases affect- Pulmonology has begun to explore ing all health systems, and much of the laboratory and translational studies, as well the use of gene-based vaccines ta­rgeted as clinical research, are being done at Columbia University College of Physicians and against pulmonary infectious organisms. Surgeons, Weill Cornell Medical College, and NewYork-Presbyterian Hospital. At Weill Cornell Medical College, a team led by Stefan Worgall, MD, PhD, esearch abounds in every field. The occult interrelations among genes that Division Chief of the Pediatrics Pul- R field of geriatrics, for instance, was had previously been thought to be unre- monology, Allergy and Immunology intrigued by a study led by ­Columbia lated. The researchers found that most Division, has developed capsid-modi- University researcher Lawrence S. Honig, of the mutated genes were fied adenovirus vectors4,5 to heighten MD, PhD, Professor of Clinical Neurol- related to 2 main gene networks, which immune responses from genetic vac- ogy in the Taub Institute, an Alzheim- together affect key processes, including cines against both Pseudomonas aerugi- er’s disease research center funded by axon guidance, synapse function, neuron nosa and respiratory syncytial virus. In the National Institute on Aging.1 Dr. mobility, and chromosomal modification. research on the pathogenesis of cystic Honig’s research found that telomere length relates both to the likelihood of Noting that the genetic networks for autism and the patient developing dementia and his or her overall remaining life span. This schizophrenia are closely intertwined, the researchers research could lead to the use of telomere postulated that many other psychiatric disorders also length as an accurate biomarker of aging in people, as well as an early warning might share the same genetic networks and interrelated sign for future dementia. molecular processes. The researchers examined telomere lengths from DNA samples of white The research, which was led by Dennis fibrosis, Dr. Worgall is investigating the blood cells obtained from 1,983 individ- Vitkup, PhD, Associate Professor in the interaction of alveolar macrophages with uals aged 66 to 101 years. These patients Department of Biomedical Informatics P. aeruginosa. were followed for an average of 8 years. at Columbia’s Center for Computational Nephrologists and psychiatrists, mean- After adjusting for age and education, Biology and Bioinformatics, also looked while, were interested in the results of among other factors, researchers found at genes mutated in patients with autism a large multinational study in which that those individuals with shorter telo- and found the similarities were surpris- Columbia University played an impor- meres had higher rates of both demen- ingly robust. Noting that the ­genetic tant role.6 The study, led by Ali ­Gharavi, tia and mortality. The researchers must networks for autism and schizophrenia MD, Associate Director of the Division now examine whether shorter telomeres are closely intertwined, the researchers of Nephrology at NewYork-Presbyterian/ directly increase the risk for dementia postulated that many other psychiat- Columbia, is the first to link congeni- and death, or if the telomeres are being ric disorders also might share the same tal kidney disease, which together with influenced by some other factor that is genetic networks and interrelated molec- urinary tract defects accounts for about both shortening telomere length while at ular processes. one-fourth of all birth defects in the the same time increasing dementia and Significant research on the ­genetics United States, with neurodevelopmen- mortality risk. behind psychological illness is being tal disorders. The study found that 10% Within psychiatry, schizophrenia has undertaken at Weill Cornell Medical Col- of children born with kidney defects long been known to be genetic in origin, lege. As just one example, Francis S.Y. have genomic alterations that have been but the networks of genes involved in this Lee, MD, PhD, Professor and Vice Chair linked with neurodevelopmental delay disability have not been well character- for Research in the Department of Psy- and mental illness. The finding is impor- ized. A recent paper published in Nature chiatry and Professor in the Department tant because it paves the way for identi- Neuroscience found a link between schizo- of , who is also an Attend- fying subgroups of patients with kidney phrenia and autism.2 Columbia research- ing Psychiatrist at the Hospital, directs defects whose treatment will be guided by ers examined a collection of mutations efforts focused on using genetic models associated with schizophrenia and found to define the role of growth factors, such See Genetics, page 4

2 www.nyp.org NewYork-Presbyterian Hospital

continued from Autism Center, page 1 “Our goal is to have many different types of evidence-based treatments, and to try to match the treatment to the child and the family. Also, we want to give people a sense of how they can choose treatment providers in the community and make decisions about where to go if a treatment is or isn’t working,” Dr. Lord said. “Many agencies tend to do one treat- ment, and that treatment is what they are known for. We want to match the treat- ment to the child, and know empirically how we can do that job better.” New and innovative methods for treat- ment are crucial. According to the US Centers for Disease Control and Preven- tion, an estimated 1 million to 1.5 mil- lion adults and children in the United States live with an ASD. Dr. Lord and The Center for Autism and the Developing Brain. her team currently are involved in 2 clin- ical trials investigating novel app­roaches necessarily good at putting that behavior language level, nonverbal problem solv- to working with families and schools to into a context of how usual or unusual it ing, and attention-deficit/hyperactivity, gauge the balance between medication is,” Dr. Lord said. etc. We’re trying to be clearer so that not and behavioral interventions in patients Further necessitating the importance everybody who has some kind of social of varying ages. For children, pa­rental of accurate patient diagnosis will be awkwardness is diagnosed with ASD. and familial involvement will be key changes made to how autism and related That’s been quite a juggling act.” at the Center to carry out chosen inter- conditions—such as Asperger’s syndrome Dr. Lord acknowledged that her work ventions in the home environment and and pervasive developmental disorder, on the DSM-5 has provoked some con- provide behavioral and ­observational not otherwise specified—are categorized troversy, but added that a recent analysis reports. In turn, by working ­closely in the fifth edition of the Diagnostic and found that the proposed DSM-5 criteria with families, Center personnel will Statistical Ma­nual of Mental Disorders would not significantly change the num- have the opportunity to measure out- (DSM-5), due to be published in 2013. bers of children diagnosed with ASDs, comes from chosen interventions more Most importantly, the guidelines— and that follow-up between parents and pr­ecisely—even short-term changes in recently form­ally approved—place clinicians will decrease differences in spontaneous behavior—thus influencing autism and related conditions under diagnosis still further. research into the application of various one umbrella cate­gory: autism spec- Once patients are diagnosed, Dr. Lord treatment options. trum disorders. Dr. Lord is a member of said the Center not only will be a Housed in an almost 8,000-square- the American Psychiatric Association’s resource for them, their parents, fam- foot converted gymnasium, the Center DSM-5 Neurodevelopmental Disor- ilies, and community, but also for will begin operations with a full-time ders Work Group and has participated researchers hoping to gain detailed, staff of approximately 12 clinicians, in studies evaluating the differences in careful documentation about the dis- which will expand with regularly sched- autism diagnosis between the fourth and order, its diagnosis, and the context of uled subspecialty clinics in fields such as fifth editions. patients’ lives. This close connection pediatric neurology, sleep medicine, gas- “The goal is to be clear for profession- with the patient’s network is designed troenterology, and genetics, according als making diagnoses as to what charac- both to understand the benefit of treat- to Dr. Lord. She added that accepting teristics they are looking for in patients ment interventions and to provide an insurance and Medicaid is another way with autism as well as to be broad when a­dditional avenue of support to the of reaching out to parents and families to describing behavioral examples so that patient. “We don’t see ourselves as ensure clinicians have the opportunity to they could apply to a small child all the replacing existing community re­sources,” correctly diagnose and treat children who way up to a very bright adult,” Dr. Lord she said. “We’re trying to provide may have autism or related disorders. said. “We’re also trying to encourage ­specificservices, and then work with “Parents are good at describing how psychiatrists and other professionals to be agencies closer to home to make sure that their children behave, but they’re not specific about other aspects of skills, like children and adults get the best care.” ■

3 Advances in Psychiatry Top Ranked Hospital in New York. Twelve Years Running.

Important news from NewYork-Presbyterian Psychiatry. Current research projects, clinical trials, and advances in the diagnosis and treatment of patients with psychiatric disorders

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continued from Genetics, page 2 foundations of disease as much as oncol- Hospital will continue to be at the fore- specific genetic information. The finding ogy. Examples of genetic discoveries in front of integrating genetics into all also alerts physicians who care for children oncology are plentiful. An important specialties. with congenital kidney disorders that there recent discovery is the revelation that cer- may be a genetic basis for a neurodevelop- tain cases of glioblastoma are caused by References mental delay or a mental illness that will the fusion of 2 genes.7 Researchers, led 1. Honig LS, Kang MS, Schupf N, et al. Asso- occur later in life. by Antonio Iavarone, MD, Professor of ciation of shorter leukocyte telomere repeat A co-author of this study was Wendy Pathology and Neurology at Columbia’s length with dementia and mortality. Arch 2012;69(10):1332-1339. Chung, MD, PhD, Director of Clinical Institute for Cancer Genetics at the Her- Neurol. Genetics at NewYork-Presbyterian Mor- bert Irving Comprehensive Cancer Center 2. Gilman SR, Chang J, Xu B, et al. Diverse gan Stanley Children’s Hospital. Her at NewYork-Presbyterian/Columbia, con- types of genetic variation converge on func- tional gene networks involved in schizophre- research interests span multiple areas, ducted genetic analyses of patients with nia. Nat Neurosci. 2012;15(12):1723-1728. including the molecular genetics of glioblastomas, searching for evidence of ­obesity and diabetes; congenital heart dis- gene fusions. They found them, with the 3. Soliman F, Glatt CE, Bath KG, et al. A ease; the genetic foundations of cardiomy- most common being fusions involving the genetic variant BDNF polymorphism alters extinction learning in both mouse and opathies, arrhythmias, long QT syndrome, fibroblast growth factor receptor ( FGFR1 human. Science. 2010;327(5967):863-866. and pulmonary hypertension; con­genital or FGFR3) and transforming ­acidic 4. Halbreiner M, Pagovich O, Finnin E, et al. diaphragmatic hernias; mental retarda- coiled-coil (TACC1 or TACC3) genes. Disrupted adenovirus-based vaccines against tion; inherited metabolic conditions; and The protein produced by the fusion of small addictive molecules circumvent anti- susceptibility to breast and pan­creatic FGFR-TACC disrupts the mitotic spindle, adenovirus immunity. Human Gene Ther. cancers. She is Director of the Pediatric causing aneuploidy, and from there tumor- 2012 Nov 9. [Epub ahead of print] Heart Network Genetic Core, the Pedi- igenesis. The finding is important because 5. Krause A, Worgall S. Delivery of antigens atric Neuromuscular Network Molecu- it provides researchers with a protein tar- by viral vectors for vaccination. Ther Deliv. lar Core, the New York Obesity Center get for pharmaceutical research for a cancer 2011;2(1):51-70. Molecular Genetics Core, and the Diabetes that is especially difficult to treat. 6. Sanna-Cherchi S, Kiryluk K, Burgess KE, and Endocrine Research Center Molecular The field of clinical genetics is ra­pidly et al. Copy-number disorders are a common Genetics Core. She also serves as Director changing and improving the practice of cause of congenital kidney malformations. of the Clinical Cancer Genetics Program medicine. As the field of genetics contin- Am J Hum Genetics. 2012;91(6):987-997. and the Fellowship Program in Cytogenet- ues to grow so too the physician-scientists 7. Singh D, Chan JM, Zoppoli P, et al. Trans- ics and Molecular Genetics. at Columbia University College of Phy- forming fusions of FGFR and TACC Perhaps no area of medicine has been sicians and Surgeons, Weill Cornell Med- genes in human glioblastoma. Science. as affected by research into the genetic ical College, and NewYork-Presbyterian 2012;337(6099):1231-1235.

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