Publications from our Special Projects

• New "First Families": The Psychosocial Impact of New Genetic Technologies

  link to Genetics in Medicine   The NEGC supported this special commentary by Dr. Joanna Fanos of Dartmouth-Hitchcock Medical Center. It was published Genetics in Medicine in February, 2012 (Vol. 14, no. 2)

• Potential Impact of Genomic Information on Childhood Sibling Relationships

  This chapter in Handbook of Genomics and the Family, Issues in Clinical Child Psychology (DOI 10.1007/978-1-4419-5800-6_6), is by lead author Joanna Fanos, Dartmouth Medical School, with support of the NEGC (2010). Other authors are Lori Wiener, NIH, and Tara Brennan, Children's National Medical Center.

  Springer, the publisher, provides access to the chapter online. Click here to read the online version.

• National profile of children with Down Syndrome: disease burden, access to care, and family impact

   

  PubMed link.  Authors: McGrath RJ, Stransky ML, Cooley WC, Moeschler JB.  Journal of Pediatrics, June 2011.     

• Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes

  PubMed link. Authors: Woo HC, Lizarda A, Tucker R, Mitchell ML, Vohr B, Oh W, Phornphutkul C.  J Pediatr. 2011;158(4):538-42.

  This project was supported by the NEGC through an Innovative Project award to Dr. Chanika Phornphutkul in 2008.

Quality Improvement Publications

• Access to Genetic Counseling for Children with Autism, Down Syndrome, and Intellectual Disabilities

   link by Robert McGrath, David Laflamme, John Moeschler, Amy Schwartz, and Michelle Stransky; published in Pediatrics (December 2009)

• Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

  link by John Moeschler, Stephen Amato, Thomas Brewster, Leah Burke, Mary Beth Dinulos, Rosemarie Smith, Wendy Smith and Patrick Miller; published online June 20, 2009

• Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

  link John B. Moeschler; Current Opinion in Neurology 2008; 21:117-122

Medical Home Publications

• Improved Outcomes Associated with Medical Home Implementation in Pediatric Primary Care

  link  by Carl Cooley, MD; Jeanne McAllister, BSN, MS, MHA; Kathleen Sherribe, DrPH, MS; and Karen Kuhlthau, PhD; Pediatrics, 2009. Conclusions (from abstract): "Developing an evidence base for the value of the primary care medical home has importance for providers, payers, policy makers, and consumers. Reducing hospitalizations through enhanced primary care provides a potential case for new reimbursement strategies supporting medical home services such as care coordination. Larger-scale studies are needed to further develop/examine these relationships."

• Medical Home 2009: what it is, where we were and where we are today

  link by Homer, CJ; Cooley, WC; Strickland, BB; Pediatric Annals. 2009;38(483-490)

Long Term Follow-Up Publications

• Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

  link  Sahai I, Eaton RB, Hale JE, Mulcahy EA, Comeau AM. Genet Med. 2010;12(12 Suppl):S220-7.

• Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

  link  Hale JE, Parad RB, Dorkin HL, et al.  J Inherit Metab Dis. 2010;33(Suppl 2):S255-61.

• Population-based research within a public health system; two models for common rule compliance in the Massachusetts Newborn Screening Program

  Comeau, Anne, PhD & Levin, D.; M. Bailey & T. Murray (Eds); Ethics and newborn genetics screening: new technologies, new challenges. Baltimore, MD: John Hopkins Press. 2009

• Oropharyngeal flora in healthy infants: observations and implications for cystic fibrosis care

  link  by Carlson D., McKeen E., Mitchell M., Torres B., Parad R., Comeau A.M., O'sullivan B.P.; Pediatric Pulmonology 2009 May; 44(5):497-502

• Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis

  link  by JE Hale, RB Parad & Anne Comeau, New England Journal of Medicine, 2008,358:9:973-974 (Correspondence)

• Spectrum of Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency detected by newborn screening.

   link  Hsu H-W, Zytkovicz TH, Comeau, AM, Strauss AW, Marsden D, Shih VE, Grady GF and Eaton RB, Pediatrics, 2008;121:e1108-e1114

Transition Publications

• Psychosocial issues and outcomes in maternal PKU

   link Susan Waisbren, Richard Koch, Friedrich Trefz
  Molecular Genetics and Metabolism, 2010, Volume 99, Supplement 1; Pages S68-S74
  

• Final commentary: A new chapter

  link D.A. White, S. Waisbren, F.J. van Spronsen
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S106-S107
  
  

• Psychiatric symptoms and disorders in phenylketonuria

  link V.L. Brumm, D. Bilder, S.E. Waisbren
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S59-S63
  

• Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic

  link S. Waisbren, D.A. White
  Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S96-S99
  
  

Quality Assurance Publications

• Spectrum of Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency detected by newborn screening.

  link  by Hsu H-W, Zytkovicz TH, Comeau, AM, Strauss AW, Marsden D, Shih VE, Grady GF and Eaton RB; Pediatrics, 2008;121:e1108-e1114