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Biomedical subjects

B McGann

Publications and source records attributed to B McGann.

9 recordsLinked to original sources

Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation.

In addition to mental retardation (MR), fragile X [fra(X)] syndrome has been associated with various psychopathologies, although it appears that the link is secondary to MR. It has been proposed that individuals with the full mutation be classified as a subcategory of pervasive developmental disorders (PDD). If fra(X) males are to be categorized as PDD, how do they compare with other types of developmental disabilities? We examined 27 fra(X) males aged 3-14 years, from 4 sites in North America. Measures of cognitive abilities were obtained from the Stanford-Binet Fourth Edition (SBFE), while levels of adaptive behavior were evaluated using the Vineland Adaptive Behavior Scales (VABS). Control subjects were sex-, age-, and IQ matched children and adolescents ascertained from the Developmental Evaluation Clinic (DEC) at Kings County Hospital. At the DEC, control subjects were diagnosed as either MR (n = 43) or autistic disorder (AD; n = 22). To compare subjects' adaptive behavior (SQ) with their cognitive abilities (IQ), a ratio of [(SQ/IQ) x 100] was computed. Results graphed as cumulative distribution functions (cdf) revealed that the cdf for AD males, who by definition are socially impaired, was positioned to the left of the cdf for MR controls, as expected. Mean ratio for AD males (70) was lower than for MR males (84). On the other hand, the cdf for fra(X) males was positioned far to the right of either AD or MR controls (mean ratio = 125). Statistical tests showed that SQ of fra(X) males was significantly higher than controls.(ABSTRACT TRUNCATED AT 250 WORDS)

Adaptation, Psychological↗

Dermatoglyphic abnormalities in the fetal alcohol syndrome.

Dermatoglyphics of 19 male and 23 female patients with fetal alcohol syndrome were compared with those of matched controls. Both male and female patients differed in several of the dermatoglyphic characteristics from their sex-matched controls. The abnormalities of dermatoglyphics reported here constitute a valuable marker trait of the teratogenic effect of the alcohol on fetal development and provide additional diagnostic signs for the fetal alcohol syndrome.

Black People↗

Distal 18q deletion without clinical findings of 18q- syndrome.

A de nova translocation of long arm of chromosome 3 to the distal third of long arm of 18 was detected in a 10 years old boy, whose phenotype has been somewhat affected. Although the translocation has resulted in loss of distal segment of 18q, clinically he bears little resemblance to 18q- syndrome.

Child↗

Renal anomalies in fetal alcohol syndrome.

Six patients with fetal alcohol syndrome were found to have developmental abnormalities of the kidney. In only one patient was investigation for renal pathology made in the absence of clinical indication. Two had palpable masses in the left upper quadrant, one had pyelonephritis, one had painless hematuria, and the fifth patient had symptomatology suggestive of renal failure. Although the renal pathology was not of the same type in all cases, it is of interest that four patients had either unilateral or bilateral renal hypoplasia.

Abnormalities, Multiple↗

Dermatoglyphics in Down's syndrome patients of different racial origins.

To investigate whether the phenotypic resemblance of Down's syndrome patients of different racial origins extended to include their dermatoglyphic characteristics, we made comparisons of dermal pattern frequencies on digits, palms, and hallucal areas of white, black and Japanese patients and matched controls. The results showed similarities in frequencies of digital whorls and ulnar loops in patients of all racial groups, of patterns in hallucal, thenar/I, second and third interdigital areas in white and black patients, and of hypothenar patterns and t" triradii in Japanese and black patients. The frequencies of the digital arches and remainder of the palmar configurations in patients of three racial groups showed significant, though often smaller, differences than those found in their controls.

Black or African American↗

Low lead levels and mental retardation.

Borderline and mildly retarded children attending the hospital developmental evaluation clinic were divided into two groups on the basis of the presence or absence of a pred with a paediatric control group using blood-lead concentration as the independent variable. Children with a history of diagnosed lead posisoning were excluded from the study. The group of mentally retarded children "aetiology unknown" had statistically significantly raised blood-lead concentrations but the mentally retarded sample with "probable aetiology" showed no significant difference in lead concentrations from those of the normal controls. It is concluded that the association between lead and mental retardation extends over a much wider range than hitherto suspected and that the nature of this association is independent of a history of "encephalopathic" lead poisoning. It is suggested that physicians should consider raised lead levels in their examination of all children suspected of mental retardation and that the numerical definition of lead toxicity should be re-evaluated.

Child↗