AUCD-NCBDDD Fellowship Webinar

Wednesday, March 26, 2008- Wednesday, March 26, 2008
1:00PM est - 2:00PM est
Location: Webinar

Topic: Long-Term Developmental Outcomes of Children with an Inborn Error of Metabolism - An Update Study

While newborn screening has been instrumental in reducing the impact of inborn errors of metabolism (IEM), the success of a treatment's ability to prevent neurological impairment is dependent on the timeliness of detection and initiation of treatment, patient compliance with treatment protocol and severity/type of IEM. Additionally, disorders that are not detected in the newborn period are usually identified clinically at a later age and studies have shown that children diagnosed outside the newborn period to have more significant deficits in communication, daily living skills, socialization and motor skills. Thus, children identified through newborn screening or clinically diagnosed are at risk for developmental disabilities. To examine this issue, data was linked from the Georgia Newborn Screening Program and the Emory Human Genetics clinic to the CDC's Metropolitan Atlanta Development Disability Surveillance Program data and Georgia special education data. The goals of this study include: (1) Determine the number of children with an IEM who have a developmental disability or receive special education services; (2) Examine different factors that may play a role in the developmental outcomes of children diagnosed with an IEM; and (3) Calculate the expected rate of developmental disabilities if IEMs were untreated.

In addition, Dr. Powell shared insights from her two-year AUCD-NCBDDD Fellowship by discussing her training experience at NCBDDD, CDC.

Kimberly Powell, PhD, 2006 AUCD-NCBDDD Developmental Disabilities Fellow

Dr. Kimberly Powell joined CDC's National Center on Birth Defects and Developmental Disabilities (NCBDDD) as the Developmental Disabilities (DD) Fellow in June 2006. Dr. Powell's research at CDC involves the ongoing Metropolitan Atlanta Developmental Disabilities Surveillance Program (MSDDSP) data base and other epidemiological data sets containing information on potential risk factors for developmental disabilities.

Kim Van Naarden-Braun, PhD
Scientist/Fellowship Mentor
Developmental Disabilities Branch
National Center on Birth Defects and Developmental Disabilities(NCBDDD)
Centers for Disease Control and Prevention (CDC)



Webinar Presentation Material [pdf, 600KB]

Supplemental Resource:

NCBDDD, CDC Autism Information Center

Audio File
Webinar (MP3) [audio file, 5.6MB]