ABSTRACT
UNLABELLED: Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with Glutaric Aciduria-Type II (GA-II). We report follow-up of positive GA-II screens by the New England Newborn Screening Program. METHODS: 1.5 million infants were screened for GA-II (Feb 1999-Dec 2012). Specialist consult was suggested for infants with two or more acylcarnitine elevations suggestive of GA-II. RESULTS: 82 neonates screened positive for GA-II, 21 weighing > 1.5 kg and 61 weighing ≤ 1.5 kg. Seven (one weighing < 1.5 kg), were confirmed with GA-II. Four of these had the severe form (died < 1 week). The other three have a milder form and were identified because of newborn screening. Two (ages > 5 years) have a G-Tube in place, had multiple hospitalizations and are slightly hypotonic. The third infant remains asymptomatic (9 months old). Two GA-II carriers were also identified. The remaining positive screens were classified as false positives (FP). Six infants (> 1.5 kg) classified as FP had limited diagnostic work-up. Characteristics and outcomes of all specimens and neonates with a positive screen were reviewed, and marker profiles of the cases and FP were compared to identify characteristic profiles. CONCLUSION: In addition to the severe form of GA-II, milder forms of GA-II and some GA-II carriers are identified by newborn screening. Some positive screens classified as FP may be affected with a milder form of the disorder. Characteristic GA-II profiles, quantified as GA-II indexes, may be utilized to predict probability of disorder and direct urgency of intervention for positive screens.
ABSTRACT
PURPOSE: This study was designed to examine the interrater reliability of early intervention providers scoring of the Alberta Infant Motor Scale (AIMS) and to examine whether training on the AIMS would improve their interrater reliability. METHODS: Eight early intervention providers were randomly assigned to two groups. Participants in Group 1 scored the AIMS on seven videotapes of infants prior to receiving training and after training on another set of seven videotapes of infants. Participants in Group 2 scored the AIMS on all 14 videotapes of the infants after receiving training. RESULTS: Overall interrater reliability before and after training was high with intraclass correlation coefficients ranging from 0.98 to 0.99. Detailed examination of the results showed that training improved the reliability of the supine subscale in a subgroup of infants between the ages of five and seven months. Training also had an effect on the classification of infants as normal or abnormal in their motor development based on their percentile rankings. CONCLUSION: The AIMS manual provides sufficient information to attain high interrater reliability without training, but revisions regarding scoring are strongly recommended.
ABSTRACT
Insertional mutagenesis based on gene trap vectors that capture endogenous splice sites is a promising tool for functional genomics. Several groups have proposed large-scale gene trap screens, but questions remain as to the type of vectors and their design. We report a set of plasmid-encoded gene trap vectors and the disruption of two novel genes. Our results include a comparison of the relative gene trapping efficiencies of two different splice acceptor sequences in ES cells and an analysis of the structure of several gene trap insertions.
