Dermatoglyphic patterns in children with chronic constipation

Analysis of the fine ridge configurations on the digits of the palms and soles (dermatoglyphics) may sometimes help in the diagnoses of certain medical disorders. Dermatoglyphic patterns have been reported to be associated with congenital anomalies, such as congenital heart disease, duodenal ulcer, abdominal pain, and constipation. The palmar dermatoglyphic patterns of 77 children with constipation (39 functional and 38 organic constipation) were recorded. The control group consisted of 84 children with inguinal hernia. Those patients with at least one arch identified on any digit of either hand were termed arch positive. There was no significant correlation between arch positivity and constipation (functional or organic), or inguinal hernia (chi square,P=0.9211). Therefore, the presence of palmar arches cannot be used as a screening device for children with chronic constipation, especially of organic etiology.Supported in part, by NIH grant M01RR00042.     

A combined study of neurophysiological,biochemical, and psychological parameters in children with phenylketonuria

Eighty-nine protein-loading tests were performed in 80 patients with an increased blood phenylalanine concentration. The amount of protein corresponding to 0.18g phenylalanine/kg body weight per day was calculated and given for 3 days, during which time eight phenylalanine and eight tyrosine blood concentrations were determined. Nine numerical evaluations were checked for discrimination between phenylketonuria and hyperphenylalaninaemia. The two most powerful discriminants were the phenylalanine blood concentration after 72 hours (sample taken in the morning of the 4th day after the beginning of the load) with a limit value of 15 mg/dl (0.91 mmol/l), and the mean value of the 5th to 8th phenylalanine values, also with a limit value of 15 mg/dl. In only eight of the 80 patients would the final diagnosis not have been established by the loading test.     

Dermatoglyphic study of systemic lupus erythematosus

Dermatoglyphic patterns were analyzed from two races of patients with SLE: a Mexican-American series of 27 females with SLE and 28 matched controls, and a Caucasian series of 28 females with SLE and 26 matched controls. Eighty-five measurements and 23 indices were analyzed. From these data, eleven parameters were statistically significant, four separating the Mexican-American SLE group from their controls and seven separating the Caucasian SLE group from their controls (P values < 0.002 to < 0.05). Only two parameters were significantly different between the two normal series, but nine parameters differentiated the Mexican-American SLE from the Caucasian SLE groups. A multiple linear discriminant function was computed using the most significant parameters. A misclassification rate of 25–30% was observed between patients and matched controls. Dermatoglyphic patterns have been shown to be genetically controlled. These data suggest a genetic abnormality associated with SLE.     

Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria

Recent data suggest that children with phenylketonuria (PKU) and poor metabolic control may have an increased prevalence of attentional dysfunction. However, few formal studies have addressed this topic in detail. We reviewed the medical records of 38 school-aged children with early and continuously treated PKU to determine the prevalence of stimulant use for attentional dysfunction, and to determine the relationship between metabolic control and attentional symptoms. Twenty-six per cent of the PKU children used a stimulant medication for attentional dysfunction. This is significantly higher than in an age- and sex-matched control group consisting of children with type I diabetes mellitus (6.5%, p <0.006), and also considerably higher than population norms for attention deficit hyperactivity disorder (ADHD) (5%). We also found a significant relationship between phenylalanine levels and stimulant use or attentional symptoms. Mean plasma phenylalanine concentration was 486 micromol/L in the non-stimulant-using group and 792 micromol/L in the stimulant-using group (p <0.02). Mean phenylalanine concentration was 462 micromol/L in the group not reporting attentional symptoms, and was 702 micromol/L in the symptomatic group (p <0.05). Parents of the stimulant-using children felt that the stimulants were efficacious in treating their child's attentional symptoms. Stimulant use and parent reports of attentional dysfunction are quite common in our PKU patients and appear to be strongly related to higher phenylalanine concentrations.     

Dermatoglyphic study of systemic lupus erythematosus.

Dermatoglyphic patterns were analyzed from two races of patients with SLE: a Mexican-American series of 27 females with SLE and 28 matched controls, and a Caucasian series of 28 females with SLE and 26 matched controls. Eighty-five measurements and 23 indices were analyzed. From these data, eleven parameters were statistically significant, four separating the Mexican-American SLE group from their controls and seven separating the Caucasian SLE group from their controls (P values less than 0.002 to less than 0.05). Only two parameters were significantly different between the two normal series, but nine parameters differentiated the Mexican-American SLE from the Caucasian SLE groups. A multiple linear discriminant function was computed using the most significant parameters. A misclassification rate of 25-30% was observed between patients and matched controls. Dermatoglyphic patterns have been shown to be genetically controlled. These data suggest a genetic abnormality associated with SLE.     

The effect of treatment on zinc,copper and calcium status in children with phenylketonuria

The trace element status of 25 children receiving a low phenylalanine diet for a treatment of phenylketonuria was studied using hair and serum samples. Hair trace element and calcium concentrations were assayed using X-ray microanalysis and compared with samples from sibling controls. Plasma, zinc and copper levels were compared with unselected hospital attenders. PKU patients were found to have significantly lower hair zinc (P<0.001) and calcium (P<0.01) concentrations and significantly higher hair copper (P<0.001) concentrations compared with controls. Plasma zinc levels were below the lower limit of normal (9.6µmol l^–1) in 8 of 19 patients (42%) in whom it was measured. The relative zinc deficiency in PKU patients may result from a competitive inhibition of absorption by copper or other metals supplemented in the diet.     

State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria: An event-related potential comparison

Summary Background: The presentation rate of stimuli plays an important role in explaining the performance inefficiency in children with ADHD. In general, children with ADHD have been found to perform more poorly in conditions of relatively slow event rates as compared with fast and moderate event rates. The state regulation hypothesis states that these children have problems in correcting their energetic state necessary to counteract a performance decrement, which requires extra effort allocation. In this study, we investigated state regulation in children with ADHD and used children with early- and continuously treated phenylketonuria (PKU) as a clinical contrast group. Method: We measured the parietal P3 during a Go/No-Go task that incorporated a condition with a fast and a slow presentation rate. Results: We were able to show that children with ADHD, relative to controls, responded more slowly and more variably in the slow condition only, which was accompanied by a smaller P3, suggesting less effort allocation. In contrast, the children with PKU did not show a state regulation deficit. The PKU group showed prolonged stimulus evaluation processing, as indexed by P3 latency, compared to controls and children with ADHD. In addition, they made more errors of commission than the controls and the ADHD group. Conclusions: Our electrophysiological data support the state regulation hypothesis of ADHD. Only the children with PKU had more problems in inhibiting pre-potent responding than controls, which is in accord with the prefrontal dysfunction hypothesis of PKU.     

Zinc status and growth of children undergoing treatment for phenylketonuria

Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low-phenylalanine or phenylalanine-free formulae provide the majority of protein and energy in the diet while phenylalanine requirements are met by low-protein natural foods. Because of the restriction of natural protein sources in this diet, the study assessed the zinc nutrition of 22 treated children with PKU (aged from 1 month to 8 1/2 years) and correlated linear growth with zinc status.The mean (±SE) plasma zinc concentration of the PKU population was 66.6±3.3 µg/dl. The mean (±SE) hair zinc concentration was 70.2±11.5 µg/g. The mean plasma and hair zinc concentrations of the PKU population were significantly different (p<0.05) when compared with mean (±SE) normal values of 84.2±2.9 µg/dl and 130.7±8.3 µg/g, respectively. The mean (±SD) dietary zinc intake of 10 PKU patients was 8.56±2.68 mg/day. No significant differences (p<0.123) were found when the mean zinc intake was compared with National Academy of Sciences Recommended Dietary Allowance for age of 10 mg/day. No significant correlations were found when plasma and hair zinc concentrations were plotted with height percentiles. Further studies are required to assess the effects of zinc supplementation and the bioavailability of zinc from low-phenylalanine diets.     

Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome

This paper reviews the 19 published studies that have utilized psychological assessments in determining the outcome of children with phenylketonuria who have discontinued a phenylalanine-restricted diet. About half the studies showed that, after diet termination, the intellectual performance of children decreased, while the other studies indicated that the intellectual performance of the children did not change. Difficulties in the use of intelligence tests to answer questions about diet termination are outlined. Due to the methodological difficulties and the varying results reported, the issue concerning the safety of diet discontinuation remains unresolved. The conclusion is that the task now is to differentiate those children who should remain on the diet from those who may safely terminate. Supported in part by Project 928, Maternal and Child Health Service, DHEW, and by the Department of Public Health, Commonwealth of Massachusetts.