Autism and Developmental Medicine Institute

Lewistown, PA, United States

Autism and Developmental Medicine Institute

Lewistown, PA, United States
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News Article | May 8, 2017

ALLENTOWN, Pa.--(BUSINESS WIRE)--Computer Aid, Inc. (CAI), a global IT services company, has taken the title sponsor role for the upcoming Pennsylvania Women’s Open golf tournament. The event will be held May 25-27 at the Valley Country Club in Sugarloaf, PA. The Open tournament will bring together some of the top up-and-coming professional women golfers for a two-day tournament being played on a historical Northeastern Pennsylvania golf course. The venerable Valley Club is over 100 years old and will provide a challenging venue for the golfers. CAI is headquartered in Pennsylvania and has a long history of supporting community-oriented charities. Throughout the company’s 35 year history it has raised significant funds to support those in need. Easter Seals, Big Brother/Big Sisters, inner city education, and student mentoring have long been a foundation of the company’s focus. However, this tournament holds a special significance for the company. The tournament is raising money for a cause that CAI has been an early adopter in – Autism. The tournament’s beneficiary with be The Autism and Developmental Medicine Institute (ADMI) in Lewisburg, PA. The ADMI provides care for those with autism and developmental disorders. Since 2013 CAI has had an Autism Initiative Program that provides training, staffing, and support for adults with Autism looking for a career in IT. CAI is one of the largest employers of individuals on the Autism Spectrum in the country. “This event is the perfect venue for pursuing one of our core missions for existing as a business – helping those in need within the communities where we work and live. Partnering with businesses who are interested in supporting meaningful inclusion and diversity in their workplace through Autism gets right to a fundamental value of our company,” said Tom Salvaggio, President of CAI. CAI currently employs close to 70 Associates with autism. These individuals are performing software testing, data quality assurance, business operations, data mining, and data entry for customers. CAI created this innovative opportunity to leverage the unique talents of people with autism, while providing them a roadmap to develop meaningful IT careers. This women’s professional golf tournament is being played for the first time since 1995 and for a sizeable purse of $100,000. This is a significant increase from previous women’s golf events and more than twice the purse of the men’s state Open. “Having this tournament return to a great venue, with a significant purse to play for, and most importantly, for a great cause, is a win for everyone. CAI is proud to be a part of this event and for the support provided to those on the Autism Spectrum,” said Salvaggio. Computer Aid, Inc. (CAI) is a $600 million privately-held global Information Technology (IT) application management and outsourcing corporation based in Allentown, PA. The company is focused on the development of service models that leverage defined processes and performance metrics in order to maximize visibility, control, and productivity. Established in 1981, the company is comprised of more than 3,500 Associates worldwide with offices throughout the United States, Canada, Europe, and the Asia-Pacific region. Company core competencies include Application Support and Development, Managed Staffing, Desktop Services, Quality & Testing Services and IT Consulting.

McMichael G.,University of Adelaide | Girirajan S.,University of Washington | Moreno-De-Luca A.,Autism and Developmental Medicine Institute | Gecz J.,SA Pathology at Womens and Childrens Hospital | And 9 more authors.
European Journal of Human Genetics | Year: 2014

Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (<1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in <0.1% (<8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation. © 2014 Macmillan Publishers Limited.

Turner T.N.,Johns Hopkins University | Turner T.N.,University of California at Los Angeles | Sharma K.,Johns Hopkins University | Oh E.C.,Duke University | And 28 more authors.
Nature | Year: 2015

Autism is a multifactorial neurodevelopmental disorder affecting more males than females; consequently, under a multifactorial genetic hypothesis, females are affected only when they cross a higher biological threshold. We hypothesize that deleterious variants at conserved residues are enriched in severely affected patients arising from female-enriched multiplex families with severe disease, enhancing the detection of key autism genes in modest numbers of cases. Here we show the use of this strategy by identifying missense and dosage sequence variants in the gene encoding the adhesive junction-associated δ-catenin protein (CTNND2) in female-enriched multiplex families and demonstrating their loss-of-function effect by functional analyses in zebrafish embryos and cultured hippocampal neurons from wild-type and Ctnnd2 null mouse embryos. Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. Our data contribute to the understanding of the genetic architecture of autism and suggest that genetic analyses of phenotypic extremes, such as female-enriched multiplex families, are of innate value in multifactorial disorders. © 2015 Macmillan Publishers Limited. All rights reserved.

Green R.C.,Harvard University | Green R.C.,HealthCare Partners | Berg J.S.,University of North Carolina at Chapel Hill | Grody W.W.,University of California at Los Angeles | And 12 more authors.
Genetics in Medicine | Year: 2013

In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected. © American College of Medical Genetics and Genomics.

Gonzalez-Mantilla A.J.,Autism and Developmental Medicine Institute | Moreno-De-Luca A.,Autism and Developmental Medicine Institute | Moreno-De-Luca A.,Genomic Health | Moreno-De-Luca A.,Geisinger Health System | And 4 more authors.
JAMA Psychiatry | Year: 2016

IMPORTANCE Developmental brain disorders are a group of clinically and genetically heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic causes can often be shared by a subset of individuals with different phenotypic features, and recent advances in genome sequencing have allowed the rapid and cost-effective identification of many of these pathogenic variants. OBJECTIVES To identify novel candidate genes for developmental brain disorders and provide additional evidence of previously implicated genes. DATA SOURCES The PubMed databasewas searched for studies published from March 28, 2003, throughMay 7, 2015, with large cohorts of individuals with developmental brain disorders. DATA EXTRACTION AND SYNTHESIS A tiered, multilevel data-integration approachwas used, which intersects (1) whole-genome data from structural and sequence pathogenic loss-of-function (pLOF) variants, (2) phenotype data from 6 apparently distinct disorders (intellectual disability, autism, attention-deficit/hyperactivity disorder, schizophrenia, bipolar disorder, and epilepsy), and (3) additional data from large-scale studies, smaller cohorts, and case reports focusing on specific candidate genes. All candidate genes were ranked into 4 tiers based on the strength of evidence as follows: tier 1, genes with 3 or more de novo pathogenic loss-of-function variants; tier 2, genes with 2 de novo pathogenic loss-of-function variants; tier 3, genes with 1 de novo pathogenic loss-of-function variant; and tier 4, genes with only inherited (or unknown inheritance) pathogenic loss-of-function variants. MAIN OUTCOMES AND MEASURES Development of a comprehensive knowledge base of candidate genes related to developmental brain disorders. Genes were prioritized based on the inheritance pattern and total number of pathogenic loss-of-function variants identified amongst unrelated individuals with any one of six developmental brain disorders. STUDY SELECTION A combination of phenotype-based and genotype-based literature review yielded 384 studies that used whole-genome or exome sequencing, chromosomal microarray analysis, and/or targeted sequencing to evaluate 1960 individuals with developmental brain disorders. RESULTS Our initial phenotype-based literature review yielded 1911 individuals with pLOF variants involving 1034 genes from 118 studies. Filtering our results to genes with 2 or more pLOF variants identified in at least 2 unrelated individuals resulted in 241 genes from 1110 individuals. Of the 241 genes involved in brain disorders, 7were novel high-confidence genes and 10were novel putative candidate genes. Fifty-nine geneswere ranked in tier 1, 44 in tier 2, 68 in tier 3, and 70in tier 4. By transcending clinical diagnostic boundaries, the evidence level for 18 additional genes thatwere ranked 1 tier higher because of this cross-disorder approachwas increased. CONCLUSIONS AND RELEVANCE This approach increased the yield of gene discovery over what would be obtained if each disorder, type of genomic variant, and study design were analyzed independently. These results provide further support for shared genomic causes among apparently different disorders and demonstrate the clinical and genetic heterogeneity of developmental brain disorders. Copyright 2016 American Medical Association. All rights reserved.

Taylor C.M.,Vanderbilt University | Taylor C.M.,Autism and Developmental Medicine Institute | Vehorn A.,Vanderbilt University | Noble H.,Vanderbilt University | And 3 more authors.
Journal of Autism and Developmental Disorders | Year: 2014

The goal of the current study was to develop and pilot the utility of two simple internal response bias metrics, over-reporting and under-reporting, in terms of additive clinical value within common screening practices for early detection of autism spectrum disorder risk. Participants were caregivers and children under 36 months of age (n = 145) participating in first-time diagnostic appointments across our clinical research center due to developmental concerns. Caregivers were asked to complete the Modified Checklist for Autism in Toddlers (MCHAT) as well as a questionnaire embedding six response bias indicator questions. These questions were items that in previous clinical studies had been endorsed by an overwhelming majority of parents within clinically identified populations. Results indicated that removal of self-reports indicative of potential response bias dramatically reduced both false positives and false negatives on the MCHAT within this sample. This suggests that future work developing internal metrics of response bias may be promising in addressing limits of current screening measures and practices. © 2014 Springer Science+Business Media.

Martin C.L.,Autism and Developmental Medicine Institute | Kirkpatrick B.E.,Autism and Developmental Medicine Institute | Ledbetter D.H.,Autism and Developmental Medicine Institute
Clinics in Perinatology | Year: 2015

In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these types of genomic variants play in human disease and their high frequency in ~1% of all pregnancies. This article highlights key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Early diagnosis and accurate interpretation are important for targeted clinical management. © 2015 Elsevier Inc.

Soares N.S.,Autism and Developmental Medicine Institute | Baum R.A.,Nationwide Childrens Hospital | Frick K.D.,Johns Hopkins Carey Business School
Journal of Developmental and Behavioral Pediatrics | Year: 2015

Experience and available research suggest that Developmental Behavioral Pediatric (DBP) practice is both complex and variable. Variability involves multiple aspects of DBP care, from activities before the visit (e.g. triage and collecting information) to activities during (e.g. history taking and testing) and after the visit (e.g. care coordination). Together these activities represent workflow, a series of clinical events by which health care is delivered. In complex systems, workflow variation often suggests the presence of inefficiency or inconsistent quality. Given the current environment of increasing health care costs and an increasing focus on quality, DBP practitioners must be mindful of these concepts for the field of DBP to remain viable. In order to characterize current DBP practice and identify common challenges, a workshop was developed with the ultimate goal of identifying potential solutions for improving both quality and efficiency. This paper summarizes the workshop findings and proposes future directions to foster improvements in DBP workflow. © 2014 Lippincott Williams and Wilkins.

Martin C.L.,Autism and Developmental Medicine Institute | Ledbetter D.H.,Autism and Developmental Medicine Institute
Current Protocols in Human Genetics | Year: 2015

Genomic imbalances involving the telomeric regions of human chromosomes, which contain the highest gene concentration in the genome, are proposed to have severe phenotypic consequences. For this reason, it is important to identify telomere rearrangements and assess their contribution to human pathology. This unit describes the structure and function of human telomeres and outlines several methodologies that can be employed to study these unique regions of human chromosomes. It is a revision of the original version of the unit published in 2000, now including an introductory section describing advances in the discipline that have taken place since the original publication. © 2015 by John Wiley & Sons, Inc.

Martin C.L.,Autism and Developmental Medicine Institute | Warburton D.,Columbia University
Annual Review of Genomics and Human Genetics | Year: 2015

Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement of solidly stained chromosomes by Giemsa banding (G-banding) to in situ hybridization and microarrays, each technique has sought to detect smaller and smaller chromosomal aberrations across the genome. Microarray analysis has revealed that copy-number variants-a class of mutation resulting from the loss (deletion) or gain (duplication) of genomic material that is >1 kb in size-are among the significant contributors to human disease and normal variation. Here, we evaluate the history and utility of various methodologies and their impact on the current practice of clinical cytogenetics. Copyright © 2015 by Annual Reviews. All rights reserved.

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