What's New with Newborn Screening: Newborn Screening Is the Process of Testing and Screening Newborns Shortly after Birth for Certain, Potentially Dangerous, Conditions And/or Impairments-Conditions That Include Everything from Inborn Errors of Metabolism and Other Genetic Disorders to Hearing Impairment

The Exceptional Parent, August 2008 | Go to article overview

What's New with Newborn Screening: Newborn Screening Is the Process of Testing and Screening Newborns Shortly after Birth for Certain, Potentially Dangerous, Conditions And/or Impairments-Conditions That Include Everything from Inborn Errors of Metabolism and Other Genetic Disorders to Hearing Impairment


Absent detection through newborn screening, many conditions, like inborn errors of metabolism, do not present until a time period after birth, with some conditions not being diagnosed until even years later. By way of definition, inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy and which are usually caused by defects in specific proteins, or enzymes, that aid in the break down, or metabolizing, of different foods. Some infants don't present symptoms of an inborn error of metabolism until the baby experiences his/her first feeding fast, going off food perhaps as a result of a cold virus or other minor ailment. The change in metabolism, caused by the fast, initiates the manifestation of the inborn error of metabolism. Thus, early detection through newborn screening is paramount, often allowing the opportunity for intervention, which can lessen or even eliminate the effects of the disorder. As an example, some inborn errors of metabolism can result in mental retardation to child who was otherwise born with no cognitive delays. If these metabolic errors are detected at birth, through screening of the small blood sample taken from a baby's heel, the child, and his or her family, can be saved from potentially life-altering consequences.

Newborn screening for impairments like hearing loss can also be highly beneficial as early detection can lead to intervention with far reaching effects. Undetected hearing loss can greatly alter a child's ability to move through other developmental stages like the advancement of speech and language skills.

EP has long championed the expansion, adoption, and development of universal newborn screening and provides ongoing updates for our readers.

Prescription Drug Approved by the FDA for PKU

Newborn screening saw its genesis in the 1960s with the findings of Dr. Robert Guthrie, an American bacteriologist and physician, who first used dried blood spotting samples in newborns to test for phenylketronuria (PKU), a genetic disorder.

For the 13,000 people in the U.S. who are living with the lifelong, genetic disorder called phenylketonuria, or PKU, managing the condition on a daily basis can be daunting. People with PKU are unable to metabolize an essential amino acid, called Phe, which is found in most foods that contain protein--like nuts, whole grains, meat, dairy, eggs, and some vegetables and fruit. If these foods are consumed, toxic levels of Phe build up in the blood stream and can be poisonous to the brain. If left untreated, people with PKU face severe neurological complications, including in some cases, severe mental retardation. The condition has historically been managed by restricting protein from a PKU patient's diet and supplementing artificial, specially-made foods to make up the protein deficit in the body, which can be unpalatable and expensive.

PKU is a condition every newborn is tested for at birth and up until December of 2007, there were no treatment options for this condition other than diet manipulation. Last year, the FDA approved the first and only prescription drug, KUVAN[TM] that may help some patients control the toxic levels of Phe in the blood and is to be used in conjunction with a Phe-restricted diet. For some, this represents a breakthrough therapy that may help keep levels low and under control, preventing the neurological complications associated with PKU. Kuvan is a pharmaceutical formulation of BH4, the natural cofactor for the PAH enzyme. Kuvan interacts with and stimulates the activity of the residual PAH enzyme to metabolize Phe to tyrosine, thus preventing the accumulation of toxic levels of Phe in the brain. In clinical studies, Kuvan has been shown to be well-tolerated, safe, and effective.

In 2008, the PKU community created the first and only National PKU Alliance (NPKUA). For more information visit www.npkua.org.

Newborn Hearing Screening

Hearing screening, conducted before a newborn leaves the hospital after birth, is becoming a much more common practice, according to the American Speech-Language Hearing Association's (ASHA) Web site. …

The rest of this article is only available to active members of Questia

Sign up now for a free, 1-day trial and receive full access to:

  • Questia's entire collection
  • Automatic bibliography creation
  • More helpful research tools like notes, citations, and highlights
  • Ad-free environment

Already a member? Log in now.

Notes for this article

Add a new note
If you are trying to select text to create highlights or citations, remember that you must now click or tap on the first word, and then click or tap on the last word.
One moment ...
Default project is now your active project.
Project items

Items saved from this article

This article has been saved
Highlights (0)
Some of your highlights are legacy items.

Highlights saved before July 30, 2012 will not be displayed on their respective source pages.

You can easily re-create the highlights by opening the book page or article, selecting the text, and clicking “Highlight.”

Citations (0)
Some of your citations are legacy items.

Any citation created before July 30, 2012 will labeled as a “Cited page.” New citations will be saved as cited passages, pages or articles.

We also added the ability to view new citations from your projects or the book or article where you created them.

Notes (0)
Bookmarks (0)

You have no saved items from this article

Project items include:
  • Saved book/article
  • Highlights
  • Quotes/citations
  • Notes
  • Bookmarks
Notes
Cite this article

Cited article

Style
Citations are available only to our active members.
Sign up now to cite pages or passages in MLA, APA and Chicago citation styles.

(Einhorn, 1992, p. 25)

(Einhorn 25)

1

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

Cited article

What's New with Newborn Screening: Newborn Screening Is the Process of Testing and Screening Newborns Shortly after Birth for Certain, Potentially Dangerous, Conditions And/or Impairments-Conditions That Include Everything from Inborn Errors of Metabolism and Other Genetic Disorders to Hearing Impairment
Settings

Settings

Typeface
Text size Smaller Larger Reset View mode
Search within

Search within this article

Look up

Look up a word

  • Dictionary
  • Thesaurus
Please submit a word or phrase above.
Print this page

Print this page

Why can't I print more than one page at a time?

Full screen

matching results for page

Cited passage

Style
Citations are available only to our active members.
Sign up now to cite pages or passages in MLA, APA and Chicago citation styles.

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn, 1992, p. 25).

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

"Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences."1

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

Cited passage

Welcome to the new Questia Reader

The Questia Reader has been updated to provide you with an even better online reading experience.  It is now 100% Responsive, which means you can read our books and articles on any sized device you wish.  All of your favorite tools like notes, highlights, and citations are still here, but the way you select text has been updated to be easier to use, especially on touchscreen devices.  Here's how:

1. Click or tap the first word you want to select.
2. Click or tap the last word you want to select.

OK, got it!

Thanks for trying Questia!

Please continue trying out our research tools, but please note, full functionality is available only to our active members.

Your work will be lost once you leave this Web page.

For full access in an ad-free environment, sign up now for a FREE, 1-day trial.

Already a member? Log in now.