Natural history of trisomy 18 and trisomy 13: II. Psychomotor development

Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12 trisomy 13 individuals ranging in age from 1 to 130 months. Data on the age when trisomy 18 and trisomy 13 children achieved developmental skills were collected from a larger group of 62 trisomy 18 individuals and 14 trisomy 13 individuals whose families filled out parent questionnaires. Developmental quotient (DQ), defined as developmental age divided by chronological age, averaged 0.18 for trisomy 18 and 0.25 for trisomy 13. There was a dramatic drop in DQ from infancy to later childhood. The highest DQs and the greatest variation in DQs were in the first 2–3 years of life. Developmental ages in 7 skill areas were significantly different, with daily living and receptive language having the highest values and motor and communication skills having the lowest. When chronological age was taken into account, there was no significant difference in DQs in the same 7 skill areas, although there was a trend that was similar to the pattern of differences with developmental age. Older children could use a walker, understand words and phrases, use a few words and/or signs, crawl, follow simple commands, recognize and interact with others, and play independently. Walking and some toileting skills were also reported for trisomy 13. Although individuals with trisomy 18 and trisomy 13 were clearly functioning in the severe to profound developmentally handicapped range, they did achieve some psychomotor maturation and always continued to learn. © 1994 Wiley-Liss, Inc.     

DXA-Generated Z-Scores and T-Scores May Differ Substantially and Significantly in Young Adults

Central dual-energy X-ray absorptiometry (DXA) is the gold standard for non-invasive measurement of bone mineral density (BMD). Using this value and subject demographics, DXA software calculates T-scores and Z-scores. Professional society guidelines for the management of osteoporosis are based on T-scores and Z-scores, rather than on the actual BMD value. Although one expects T-scores and Z-scores to be very similar in young men and women for any given BMD measurement, little literature exists on this issue. Our clinical experience shows that some younger adult individuals (premenopausal women and men younger than 50 yr) have larger than expected difference between their DXA T-score and Z-score. This cross-sectional study evaluates the extent of this discordance between Z-scores and T-scores in a sample of 4275 men and women aged 20–49 yr. All subjects were scanned by central DXA using equipment manufactured by GE Lunar, GE, Madison, WI, or Hologic, Inc., Bedford, MA. Significant differences between Z-scores and T-scores were seen within individuals at the lumbar spine, total hip, femoral neck, and trochanter (p value < 0.001) for both DXA systems. Although these differences were less than half a standard deviation (SD) in most instances, the magnitude of difference was substantial at times, being 1 or more SD in up to 11% of cases (range: −1.95 to +1.54 SD). The smallest differences were seen at the total hip and the largest differences were seen at the femoral neck for both technologies. This is in part because there is no single standard Z-score definition, resulting in different methods of calculation across, and even within, DXA manufacturers. Standardization of Z-score definition and method of calculation is indicated. DXA Z-scores should be interpreted with caution in men and women aged 20–50 yr.     

Can we understand partnerships in general practice? A pilot study

BACKGROUND: Partnerships have been investigated in different professions,but other than identifying problems, little work has been carriedout on general practice. OBJECTIVE: The aim of this present study was to develop methods for studyingpartnerships in general practice. METHOD: A tripartite methodological approach was used, with questionnairesadapted from other instruments in use in other professions,followed by an individual interview with each partner, and non-participantobservation at a partnership meeting. Results for one case-studypartnership are given. RESULTS: There were no major differences between the partners on alldimensions measured; the minor differences indicated by theresults of the questionnaires were corroborated by the partnerinterviews and observations. CONCLUSIONS: We conclude that the use of such techniques could provide supportto partnerships going through significant periods of change. Keywords. General practice, interview, observation, partnerships, questionnaire.     

Crohn's disease presenting with acute colonic perforation.

Crohn''s disease is well known for its multiple intestinal complications. The chronic nature and fibrous inflammation which invariably accompanies this disease explains the relative rarity of free intestinal perforation. The true incidence of free bowel perforation is difficult to assess but 1-2% is the anticipated occurrence during the course of illness. We present a case of Crohn''s disease which presented for the first time with acute colonic perforation, an extremely rare entity, and review the current world literature.     

Quality of life after myocardial revascularization. Effect of increasing age.

The effect of increasing age on quality of life, survival, and risk of reoperation was studied in 2479 patients followed up prospectively 2 to 20 years after myocardial revascularization. Quality of life was determined from annual questionnaires, which we used to calculate a health status index from the patient's symptomatic status and subjective response to the operation, which was graded between zero and 1.00 (asymptomatic). Four age groups were studied: age 49 years or less (AG40), 50 to 59 years (AG50), 60 to 69 years (AG60), and 70 years or older (AG70). Associated problems (left ventricular aneurysm, valve disease, acute myocardial infarction) necessitating treatment were present in 17% (61/361) of AG40 patients, 19% (165 of 859) of AG50 patients, 23% (213/927) of AG60 patients, and 31% (102/332) of AG70 patients. The hospital mortality rate was higher in older patients undergoing combined procedures but not in patients undergoing coronary bypass grafts only. Probability of survival and health status indexes were calculated excluding patients with valve disease and cardiogenic shock. Probability of survival was significantly better (p less than 0.001 by the Wilcoxon test) in patients less than age 60 than in those 60 years or older, but in patients with an ejection fraction greater than or equal to 0.40, probability of survival at 12 years was 0.64 (age less than 60) versus 0.62 (age greater than or equal to 60). The actuarial risk of reoperation, calculated as the difference between probability of survival and probability of survival without reoperation, progressively increased in younger patients but not in patients aged 60 years or older. At 15 years, the reoperation rates were 26% (AG40), 14% (AG50), 5% (AG60), and 7% (AG70). Mean health status index for years 1 to 5 was 0.85 in AG40 patients, 0.84 in AG50 patients, 0.89 in AG60 patients, and 0.90 in AG70 patients; for years 6 to 10, 0.81, 0.80, 0.86, and 0.89; and for years 11 to 15, 0.77, 0.78, 0.84, and 0.84, respectively. Thus quality of life after myocardial revascularization is better, improvement lasts longer, and reoperation rate is less in patients aged 60 years or older.     

Success and failure in penile prosthesis surgery: two cases highlighting the importance of psychosocial factors

Two cases, carefully selected from a longitudinal, prospective investigation of the relationship between psychosocial variables and postsurgical adjustment to a penile prosthesis implantation, were studied intensively. In both cases, the patient and sexual partner were assessed, presurgically, on a number of psychological, marital, and sexual functioning variables; their subsequent satisfaction with the prosthesis, and their psychological, marital, and sexual adjustment were measured at 6 and 12 months postsurgery. Despite many similarities in medical aspects of the surgery, for one couple a successful outcome was evidenced, whereas the other couple demonstrated a therapeutic failure despite the technical success of the surgery. Psychosocial differences between the couples were identified as they may relate to the discordant outcomes observed. Clinical implications of these results are discussed, as are the strengths and weaknesses of our methodological approach.     

Testing the Theoretical Fit of an Abseiling Harness: A Study of an Australian Primary and Secondary Prevention Program

A theoretical model of prevention addressing adolescents at-risk of offending was developed then utilised to assess a primary and secondary prevention program. The study of the wilderness-based practise was conducted between September 1992 and October 1994, adopting a pre-post-follow-up quasi-experimental design using waiting periods to establish treatment and control groups. Maturational changes were gauged over a 12 month period of 44 male and 18 female voluntary Australian adolescents between the ages of 15 and 25 years. Significant differences between the treatment and control groups in the psychometric areas of general self-esteem and self-actualisation were found establishing positive program effect on participants. Further, the long term effect of this program in preventing participants initial contact with court proceedings or reducing further involvement respectively, over a twelve month period was substantiated. It was shown that following this experience post program goals of employment and education for adolescents at-risk were positively influenced.