A cytogenetic survey of a population of 274 mentally retarded males on community placement is described. Thirty-five had an aneuploid chromosome constitution and five had the mar(X) syndrome. The range of clinical variation among the mar(X) probands and their affected relatives is described. Family studies were possible for four of the five mar(X) probands and in two families the mar(X) gene was apparently transmitted through a clinically normal male, suggesting that this type of male transmission may be a not uncommon phenomenon.
We report an oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28). The three affected males resemble clinically most previously reported affected Caucasians. The marker was present in four female 40-70 years old, including one with normal intelligence. Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.
A newly marketed device measures body temperature using an ear probe that detects infrared radiation from the tympanic membrane. It is simple to use and gives a reading in 1-2 seconds. Its accuracy was evaluated in a group of children, aged 1 month through 10 years, by comparing it with either rectal (n = 65), or oral (n = 48) temperatures obtained with a standard electronic thermometer, IVAC (San Diego, CA). The average elapsed time between readings was 11 minutes. Overall, 60 rectal and 40 oral temperatures (88.5%) were higher with IVAC than with the aural sensor. The difference ranged from -0.7 degrees C to +2.5 degrees C. The correlations between the infrared ear-probe values and the rectal and oral temperature readings were 0.77 and 0.75, respectively. Because the average reading using the aural sensor was lower than that using the IVAC, the sensitivity of the aural sensor for detecting clinically important levels of fever was low. None of seven patients with a rectal temperature of 39 degrees C or more and only 7 of 27 with a rectal temperature of 38 degrees C or more were identified by the aural sensor as having temperatures above these cutoff levels. Similarly, none of three patients with an oral temperature of 39 degrees C or more and only three of eight with an oral temperature of 38 degrees C or more were identified correctly by the aural sensor. The authors conclude that the aural sensor is unsatisfactory for detecting clinically significant fevers in a pediatric outpatient setting.
During the 1977-78 school year, 430 children from the Island of Oahu, Hawaii, were referred to a central school problem clinic for evaluation of learning problems. The proportion of these children (6.7%) who had been independently reported to the state child abuse agency was compared, after age adjustment, to the rate of such reporting for all children on the island and was found to be 3.5 times higher. The types of abuse and/or neglect reported were similar for the children with learning problems and for other island children. These findings strengthen the argument for a link between child maltreatment and developmental disabilities.
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