Transition: Products & Publications

Transition Products

Transition Plan for Metabolism Clinics - Clinicians Policy & Explanation for Families

Developed by Susan Waisbren, PhD, at Boston Children's Hospital, 2015

Transition to Adult Healthcare - Clinician's Policy

This policy is for staff at Metabolism Clinics in the New England Region who are caring for patients aged 12-17 with metabolic disorders. The policy is structured around best practices in enabling patients to transition successfully to adult health care. It includes information about guardianship, healthcare proxies, parent and patient visiting policies, inpatient visits, medical records, and our Transition Toolkit for teens, among other resources.

Explanation for Young Adults, Adolescents, and Families

This introduction for adolescents, young adults, and families explains the steps to take as teens and young adults with metabolic disorders transition to caring for their own health. It includes information about independent health care visits, guardianship, healthcare proxies, medical records confidentiality, and our Transition Toolkit.

Moving on with Mito

"Moving on with Mito - A Guide for Teens and Young Adults Living with Mitochondrial Disorders" 

This exceptional educational brochure was developed in 2014 by Susan Waisbren, PhD, at Children's Hospital Boston, and Robert Auffrey, Health Communications graduate student at Emerson College, Boston.  Topics include:

  • Basics about mitochondrial disorders
  • Achieving Life Goals
  • Personal Stories
  • The Adult Health Care System
  • About Transition & the Transition Toolkit
  • Resources
Face Forward Summer Conference for Youth

Face Forward summer conferences are sponsored by Next Step, Inc., in Cambridge, MA, in collaboration with Dr. Susan Waisbren, NEGC Transition Work Group Chair / Children's Hospital Boston.  

Transition Toolkit

This toolkit was developed to help teenagers and young adults prepare for transitioning to the adult health care system.

The links below go to the New England Consortium of Metabolic Programs website at Children's Hospital Boston, where the toolkit was developed with Innovative Project award funding from the NEGC.

Metabolic Condition Basics

Part of the Transition Toolkit described above, Metabolic Basics are 1 page fact sheets designed to help individuals understand their inherited metabolic conditions, and to explain them to families, schools, friends, and care providers. Each includes concise user-friendly sections on medical issues for teens and young adults, and on fertility and pregnancy. 

Metabolic Basics are available on the New England Consortium of Metabolic Programs website (see links below), under Transition Toolkit. Of all the elements in the Transition Toolkit, the Metabolic Basics have reportedly been used the most!  

Metabolic Condition Basics – Arginase Deficiency

Metabolic Condition Basics – Argininosuccinic Acidemia

Metabolic Condition Basics – Biotinidase Deficiency

Metabolic Condition Basics – Citrin Deficiency

Metabolic Condition Basics – Citrullinemia I

Metabolic Condition Basics – CPS I Deficiency

Metabolic Condition Basics - Mitochondrial Disorders 

Metabolic Condition Basics – Galactosemia

Metabolic Condition Basics – Homocystinuria

Metabolic Condition Basics – NAGS Deficiency

Metabolic Condition Basics – Ornithine Transcarbamylase (OTC) Deficiency

Metabolic Condition Basics – Phenylketonuria (PKU)

Galactosemia: Educators' Resources

These resources, developed at Children's Boston, are  for teachers working with students who have galactosemia:

  •  Understanding Galactosemia
    • an introductory guide for educators, featuring a basic description of galactosemia, suggested teaching strategies, classroom managment ideas, and additional resources
  •  Galactosemia - Resources for Educators
    • a detailed guide for educators with in-depth information about galactosemia, about special challenges for students with the condition, and featuring information about therapies, classroom environment, lesson planning, teaching technologies, and other resources
Moving Forward: Your Guide to Galactosemia and POI

Moving Forward: Your Guide to Galactosemia and POI  is a comprehensive five-part guide, produced at Children’s Hospital Boston.

It contains sections for teens and women who have galactosemia and POI, and for their family members. The guide explains the symptoms and underlying causes in easy-to-understand terms, and outlines ways of getting the care and support you need.

It also provides a list of resources, and a glossary of medical terms.

A Guide for Prenatal Educators

A Guide for Prenatal Educators was developed at Children's Boston and contains information and resources based on recommendations by the American Academy of Pediatrics.  Included information and resources for parents, as well as information about each metabolic disorder including incidence rate, a brief definition, and recommmended treatment options.

PKU Toolkit

The PKU Toolkit, developed at Children's Boston, is designed to be a personal guide for teens and young adults with PKU, including comprehensive information about nutrition, diet, treatment, and lifestyle issues. It provides information, resources, checklists, and quizzes to help you better manage your PKU. 

Also included is information about new, more convenient and tasty options in PKU formula and low-protein foods. Reading this toolkit can also be useful for family, friends and significant others of adults with PKU.

Transition Publications

Parents are interested in newborn genomic testing during the early postpartum period

Link to article in PubMed

Waisbren SE, Back DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Genet Med. 2014 Dec 4 epub

The adult galactosemic phenotype.

Link by Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT . J Inherit Metab Dis. 2012 Mar;35(2):279-86. Epub 2011 Jul 21. PubMed PMID: 21779791.

Psychosocial developmental milestones in men with classic galactosemia.

Link by Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME, Grootenhuis MA. J Inherit Metab Dis. 2011 Apr;34(2):415-9. Epub 2011 Feb 25. PubMed PMID: 21350966; PubMed Central PMCID: PMC3112026.

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 

The psychology and neuropathology of phenylketonuria.

Link by White DA, Waisbren S, van Spronsen FJ. Mol Genet Metab. 2010;99(Suppl 1):S1-2.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Link by Waisbren SE, Levy HL, Noble M, et al. Mol Genet Metab. Sep-Oct 2008;95(1-2):39-45.

Expanded newborn screening: information and resources for the family physician

Link by Waisbren SE. Am Fam Physician. Apr 1 2008;77(7):987-994.

Parental tolerance of false-positive newborn screening results.

Link by Prosser LA, Ladapo JA, Rusinak D, Waisbren SE. Arch Pediatr Adolesc Med. Sep 2008;162(9):870-876.

Stability of blood phenylalanine levels and IQ in children with phenylketonuria.

Link by Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Mol Genet Metab. Sep-Oct 2008;95(1-2):17-20.