Joint laxity, scoliosis, and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome.
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Abnormalities, Multiple↗
Biomedical subjects
M DeBaun
Publications and source records attributed to M DeBaun.
Preliminary study of working memory in children with stroke related to sickle cell disease.
The verbal working memory abilities of children with stroke related to sickle cell disease (SCD) (n = 20) were compared to those of control children with SCD who had no history of stroke (n = 11). Memory span for one-, two-, and three-syllable words was assessed. For children with anterior infarcts, overall span was comparable to that of controls, but the typical effect of word length on span was reduced. For children with diffuse infarcts, overall span was reduced in comparison to that of controls, but the typical effect of word length on span was observed. For children with posterior infarcts, overall span was comparable to that of controls and the typical effect of word length on span was observed. These results provide preliminary evidence that patterns of working memory performance may vary across children with infarcts affecting different regions of the brain.
Adolescent↗
Hyaline membrane disease is underreported in a linked birth-infant death certificate database.
OBJECTIVE: This study compared the Missouri State Department of Health linked birth-infant death certificate database and medical records with respect to recording hyaline membrane disease in very low-birth-weight infants. METHODS: We reviewed the records for all 976 infants weighing 500 to 1500 g who were born to St. Louis, Mo, residents in 1989, 1991, and 1992. RESULTS: Eighteen percent of the birth certificates and 54% of the medical records documented hyaline membrane disease, resulting in 34% sensitivity and 99% specificity. CONCLUSIONS: The Missouri State Department of Health birth-infant death certificate database underestimates the incidence of hyaline membrane disease, which suggest that national statistics for the disease are also underestimated.
Birth Certificates↗
Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann syndrome (BWS) is an autosomal dominant disorder of increased prenatal growth and predisposition to embryonal cancers such as Wilms tumor. BWS is thought to involve one or more imprinted genes, since some patients show paternal uniparental disomy, and others show balanced germ-line chromosomal rearrangements involving the maternal chromosome. We previously mapped BWS, by genetic linkage analysis, to 11p15.5, which we and others also found to contain several imprinted genes; these include the gene for insulin-like growth factor II (IGF2) and H19, which show abnormal imprint-specific expression and/or methylation in 20% of BWS patients, and p57KIP2, a cyclin-dependent kinase inhibitor, which we found showed biallelic expression in one of nine BWS patients studied. In addition, p57KIP2 was recently reported to show mutations in two of nine BWS patients. We have now analyzed the entire coding sequence and intron-exon boundaries of p57KIP2 in 40 unrelated BWS patients. Of these patients, only two (5%) showed mutations, both involving frameshifts in the second exon. In one case, the mutation was transmitted to the proband's mother, who was also affected, from the maternal grandfather, suggesting that p57KIP2 is not imprinted in at least some affected tissues at a critical stage of development and that haploinsufficiency due to mutation of either parental allele may cause at least some features of BWS. The low frequency of p57KIP2 mutations, as well as our recent discovery of disruption of the K(v)LQT1 gene in patients with chromosomal rearrangements, suggest that BWS can involve disruption of multiple independent 11p15.5 genes.
Beckwith-Wiedemann Syndrome↗
Selected antepartum medical complications and very-low-birthweight infants among black and white women.
This study estimated the risk of very-low-birthweight delivery among Black and White women with selected treatable antepartum medical conditions. A logistic regression model was applied to a retrospective, population-based data set identified by computerized, linked birth certificate and maternal hospital discharge records. For Black mothers, the adjusted odds ratio for very-low-birthweight delivery was statistically significant for essential hypertension and urinary tract infection. For White mothers, the adjusted odds ratio was statistically significant for essential hypertension, urinary tract infection, pregnancy-induced hypertension, and diabetes mellitus. Public policy designed to reduce the risk of very-low-birthweight delivery must include strategies for attenuating the impact of treatable antepartum medical conditions.
Adolescent↗
Cognitive and behavioral function in children with sickle cell disease: a review and discussion of methodological issues.
PURPOSE: A review of the literature regarding cognitive and behavioral function in children with sickle cell disease (SCD) is presented, including a discussion of methodological issues to be considered when evaluating these patients and research in this area. DESIGN: Sixteen studies were examined that addressed cognition and behavior in children with SCD. RESULTS: Most studies of children with SCD who were classified as neurologically normal probably included a substantial number of children who had experienced silent strokes; this misclassification error likely resulted in erroneous findings of deficits in children thought to be free of brain injury. In most studies of children with SCD-related infarct, investigators failed to consider that patterns of impairment will vary depending upon lesion location. Many studies relied upon data from inappropriate control groups when examining the function of children with SCD. CONCLUSIONS: Future studies should address a number of methodological factors. Brain imaging must be conducted to verify the presence or absence of cerebral infarcts. In children with imaging-verified infarcts, greater attention must be given to the relationship between lesion location and distinct patterns of cognitive or behavioral deficits. Sibling controls are the best choice in studies of children with SCD.
Adolescent↗