Search

A detailed medical history in combination with a thorough physical examination, including rectal examination, form the cornerstone in the diagnostic work-up for children with functional defecation disorders. Additional investigations are often not informative and have only minor diagnostic or therapeutic implications. Medical therapy in children with functional constipation and solitary encopresis is primarily based on clinical experience. In both patient groups, the role of education, the use of diary cards and toilet training is important. In some patients behaviour interventions are important. Oral laxatives are the basis of treatment of children with functional constipation, whereas they are contra-indicated in children with solitary encopresis. In both groups, biofeedback training appears to be of little additional benefit. Long-term follow-up of children with functional defecation disorders shows that complaints continue far beyond puberty in many children

Chronic abdominal pain occurs in 17% of children aged 0-14 years with a peak of 33% at the age of 7 years. According to the Rome II criteria abdominal pain disorders can be classified as functional dyspepsia, irritable bowel syndrome, functional abdominal pain, abdominal migraine, and aerophagia. This new classification will hopefully lead to a more careful diagnosis of functional abdominal pain syndromes and to better treatment strategies. A thorough history taking and physical examination are the cornerstone of diagnostic workup in children with chronic abdominal pain. An extensive explanation and reassurance are the basis of an adequate treatment and in the majority of cases this is successful

In studies on atopic dermatitis (AD), different scoring systems are used to evaluate the severity of the disease. The objective of this study was to investigate agreement between observers in the assessment of the overall severity of AD, and interobserver variation in the assessment of severity of AD for each scoring item separately, using the Simple Scoring System (SSS), the Scoring Atopic Dermatitis (SCORAD) index, and the Basic Clinical Scoring System (BCSS), and,furthermore, to investigate agreement between these three scoring systems in the assessment of the overall severity of AD. Eighty-two patients (42 male) with AD, mean age 13.4 years (range 0.2-67.0), were included. Agreement between observers in assessing the overall AD severity scores, and interobserver variation in assessing AD severity of each scoring item separately were determined in 34 of these 82 patients by two physicians scoring the severity of AD by the three scoring systems. To determine agreement between the scoring systems, one physician scored the severity of AD in all patients with the three scoring systems. Agreement between observers and agreement between the three scoring systems was calculated by Cohen's kappa (kappa) and by the measure of agreement according to Bland & Altman. kappa>0.4 represents fair agreement; kappa>0.75 excellent agreement. In addition, interobserver variation for each scoring item separately was calculated by the Wilcoxon signed rank test. The mean differences (d) and the Limits of agreement (d+/-2 SD of the differences) between observers by the SSS and the SCORAD were -0.82+/-5.58 and -0.28+/-7.49, respectively. kappa between observers for the BCSS was 0.90 (95% CI 0.79-1.03). By the SSS, significant interobserver variation was found in assessing the severity of excoriations (P=0.02) and scales (P=0.02). By the SCORAD, significant interobserver variation was found in assessing the severity of edema/papulation (P=0.04), erythema (P=0.04), and excoriations (P=0.01). No significant interobserver variation was found in assessing the extent of AD. The mean difference and the limits of agreement between the SSS and the SCORAD were -4.17+/-9.52. kappa between the SSS and the BCSS was 0.21 (95% CI 0.09-0.33), and kappa between the SCORAD and the BCSS was 0.38 (95% CI 0.26-0.51). We found good agreement between observers assessing the overall severity of AD in the lower and higher scoring rates by the SSS and the SCORAD, and excellent agreement by the BCSS. Significant interobserver variation was found on the isolated intensity items scales, excoriations, edema/papulation, and erythema. We found poor agreement between the three scoring systems in assessing the overall severity of AD, indicating that the SSS, the SCORAD, and the BCSS cannot be used interchangeably to assess the overall severity of AD.

In patients with phenylketonuria (PKU), extra tyrosine supplementation is advocated in addition to tyrosine-enriched amino acid mixtures. PKU patients have low fasting plasma tyrosine concentrations, but little is known about tyrosine fluctuations during the day. Plasma tyrosine concentrations were studied in 12 PKU patients in response to a test without breakfast and to three tests with different tyrosine contents in breakfast and lunch: 0%/30%, 25%/30%, 50%/10%, and 75%/10% tests, reflecting the protein consumption at breakfast and lunch, respectively. Prolonged fasting resulted in a small decrease in the already low overnight fasting plasma tyrosine concentrations. Breakfast and lunch with 25% and 30% of the daily tyrosine intake resulted in both lower than normal and higher than normal tyrosine concentrations. The 50%/10% and 75%/10% tests resulted in excessively high plasma tyrosine concentrations in most patients. Therefore, both lower than normal and higher than normal postprandial plasma tyrosine concentrations were found in treated PKU patients, even if the daily tyrosine intake was distributed evenly. When there was a large fractional tyrosine intake from one meal, very high plasma tyrosine concentrations were found. Therefore, strict control of plasma tyrosine is necessary if tyrosine supplementation is considered in addition to the tyrosine-enriched amino acid mixtures.

Objective. To achieve smooth control of plasma phenylalanine concentrations in phenylketonuric patients, it is advocated to divide the daily intake of natural protein and amino acid supplements equally over the meals. However, this may be quite an encumbrance for the patient. We, therefore, investigated whether a breakfast with an unequal daily distribution results in an undue rise in the plasma phenylalanine concentration. Design. Plasma phenylalanine concentrations were measured in seven patients with phenylketonuria in response to three tests with breakfast and lunch, representing an equally or unequally divided daily distribution of the individually tailored phenylalanine intake. Breakfast contained 25%, 50%, or 75%, whereas lunch contained 30% or 10% of the individual daily phenylalanine allowance, respectively. Results. Plasma phenylalanine concentrations showed postprandial increases of up to 26% above baseline. Generally, phenylalanine returned to baseline during the test and remained within the target range if baseline phenylalanine was within that range. Two patients having baseline values in the upper target range showed a rise just above the target range for 60 minutes on an unequal daily distribution of phenylalanine. In another patient treated similarly, plasma phenylalanine did not return to baseline during the test. Conclusions. Unequal distributions of the daily phenylalanine allowance are justified, provided that the patient is in good clinical condition, adjusted to the diet adequately, and the daily allowance is not exceeded. At this time, however, we cannot recommend this unequal daily distribution for daily practice.

Regurgitation in infants is a common problem. Recent issues, such as the increased risk of sudden infant death in the prone sleeping position, the finding of persisting occult gastro-oesophageal reflux with feed thickeners, and the increasing awareness of the cost-benefit ratio of medications may challenge the currently recommended management approach. A round table was organized to elaborate on the impact of (i) the pro supine sleeping campaigns in relation to sudden infant death and (ii) advancement in medical treatment on therapeutic strategies in regurgitating infants. The participants were opinion leaders from Europe and North America (Belgium, Canada, France, UK, Italy, Switzerland and The Netherlands). The importance of parental reassurance is stressed. As a consequence of the supine sleeping campaigns aiming to decrease the incidence of sudden infant death syndrome, the ''prone elevated sleeping position'' is no longer advised as a first-line therapeutic approach, although it is still recommended in ''complicated reflux''. It is emphasized that milk thickeners are an adequate therapeutic tool for regurgitation, but not in reflux disease. According to the literature, the efficacy of (alginate-)antacids, although very popular in some countries, is questionable. These recommendations will be of interest to first-line paediatricians, since about 40% of their patients, according to the literature, present because of regurgitation.

Differential sugar-absorption tests for measuring intestinal permeability for sugars have been studied in a variety of gastrointestinal diseases. Their use in general practice has been hampered by a lack of data on reference values and repeatability of the test and the laboratory assay. In this study, we determined the reference values of the sugar-absorption test, using lactulose and mannitol as probe molecules, for children and adults. The repeatability of the test is good; linear relationship: slope, 0.825 [95% confidence interval (CI), 0.571, 1.152); intercept, 0.005 (95% CI, -0.004, 0.010). The repeatability of the laboratory assay for the sugar-absorption test is excellent; linear relationship: slope, 1.014 (95% CI, 0.870, 1.094); intercept, 0.002 (95% CI, -0.005, 0.010). The validation of the sugar-absorption test makes the test useful as a simple, noninvasive, reliable intestinal permeability test for sugars, which can be of use for clinical practice. Taking possible interfering factors into account, the sugar-absorption test can be used as a diagnostic test for enteropathy of different etiologies and evaluation of therapeutic interventions in both children and adults. Studies with the sugar-absorption test may clarify the role of intestinal permeability in the pathophysiology of a variety of gastrointestinal diseases.

Intravenous antibiotics and enteral tube feeding at home for the treatment of pulmonary exacerbations and underweight condition in cystic fibrosis (CF) patients have become tools that are used in many cystic fibrosis centres, The experience with home care programmes from different countries is quite conclusive, If the necessary preparations are made, such as training of staff and patients, and financial support is arranged, home care is easy to put into practice. Optimal patient compliance is also necessary. Home care is as effective as hospital treatment for selected patients, and less expensive. Experience has increased during many treatment periods in different cystic fibrosis centres, and only a few adverse events have been recorded, indicating that home care is safe, However, the most important gain for cystic fibrosis patients is the reduction of hospital admission time, which means a definite improvement in the quality of life.

The rapid development of new modes of treatment including organ transplantation, enzyme inhibition, enzyme replacement, liver cell transplantation and gene therapy necessitates knowledge about the results of all modes of treatment to allow decisions on treatment strategies. In hereditary tyrosinaemia type I, apart from the dietary treatment, both orthotopic liver transplantation (OLT) and treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) have become available (Lindstedt et al 1992). However, this disease seems clinically very heterogeneous. Therefore, we should first attempt to categorize different clinical forms since treatment strategies may be quite different. Based on clinical heterogeneity, Halvorsen (1990) divided patients with tyrosinaemia into three forms - acute, subacute and chronic - but could not report the exact outcome on dietary treatment with possible consequences for treatment strategies. We have therefore investigated the clinical course on dietary treatment of our own patients and conducted an international survey on the clinical course of patients managed by dietary treatment and/or OLT, of which the results in part are described elsewhere (van Spronsen et al 1994). The results may enable us to compare the outcome on NTBC and to decide on treatment strategy in tyrosinaemia type I patients.

The growth pattern of 28 girls and 32 boys with celiac disease was analyzed up to the ages of 10 and 12 years, respectively. Fifty-four patients (90%) were diagnosed before 4 years of age and six patients (10%) between 5 and 9 years of age. At diagnosis, 18 of 60 patients (30%) had a height SD score below -2.0, and 45 of 59 patients (76%) had a weight-for-height below the median. The mean height SD score showed increasing growth retardation in the year before diagnosis, relatively quick catch-up growth in the year after diagnosis, and complete catch-up in 2-3 years. Mean weight-for-height showed a progressive decrease 12-18 months before diagnosis, increased to a maximum at the end of the first year of therapy, and returned to normal 15 months after dietary treatment. Independent of age at diagnosis, initial degree of wasting, diagnostic delay, and strictness of gluten-free diet, catch-up growth was complete in this group of patients who were diagnosed before 9 years of age.

Hereditary tyrosinemia type I (McKusick 27670) is a heterogeneous disease with poor prognosis, yet there are few reports of the long-term prognosis. It is there fore difficult to decide on the treatment for individual patients. We have conducted an international survey of patients with tyrosinemia type I and examined the probability of survival on dietary treatment and the causes of death in 108 patients with tyrosinemia type I. The survival after the onset of symptoms varied with the age at onset; the earlier the symptoms developed the poorer the outlook. Liver failure and recurrent bleeding (67%), hepatocellular carcinoma (17%) and the porphyria-like syndrome with respiratory failure (10%) were the most common causes of death. The 1-and 2-yr survival probability after the onset of symptoms in patients in whom symptoms developed before 2 mo, between 2 and 6 mo and after 6 mo were 38%/29%, 74%/74% and 96%/96%, respectively. On the basis of these survival rates, a new classification-which is important with respect to choices in treatment-is proposed: very early (onset of symptoms 6 mo).

In this article, the Working Group on Gastro-Oesophageal Reflux of the European Society of Paediatric Gastroenterology and Nutrition presents and discusses a definition of reflux esophagitis and recommends a diagnostic approach and therapeutic management for this condition. Histologic criteria for reflux esophagitis, modified and adapted to the particular needs of infants and children, are suggested. Upper gastrointestinal endoscopy is recommended as the technique of choice in infants and children presenting with symptoms suggestive of reflux esophagitis. Prokinetics, although still a relatively new drug family, have already established a definitive place in the treatment of gastroesophageal reflux disease in infants and children and could also be used in the treatment of nonulcerative esophagitis, as suggested in the literature. If the esophagitis is more severe (ulcerative), treatment should initially consist of H-2 blockers and then be continued with prokinetics. New drugs, such as omeprazole, are suggested in cases refractory to H-2 blockers. Surgery is indicated in life-threatening conditions or if the esophagitis is resistant to adequate medical management.

The role of the physiologic barrier function of the small bowel and its possible role in health and disease has attracted much attention over the past decade. The intestinal mucosal barrier for luminal macromolecules and microorganism is the result of non-immunologic and immunologic defense mechanisms. The non-immunologic mechanisms consist of intraluminal factors such as gastric acid, proteolytic activity, and motility and of mucosal surface factors like mucin and the microvillous membrane. The immunologic mechanisms include secretary IgA and cell-mediated immunity. Both types of mechanism are not completely mature at birth. Maturation of this barrier is not finished before the 2nd year of life. One of the aspects of the mucosal barrier function can be estimated by the intestinal permeability (IP) for macromolecules. We use the differential sugar absorption test (SAT), in which the ratio of urinary excretion of a relatively large molecule, lactulose, is compared with that of a relatively small molecule, mannitol, after oral ingestion. Although the small intestine is permeable to certain macromolecules in normal developmental conditions, an increased IP could be involved in the pathophysiology of several diseases, including infectious diarrhea, food allergy, celiac disease, and Crohn's disease. It can be concluded that IP, as measured with the SAT, reflects the state of the mucosal barrier and is altered in several gastrointestinal diseases. The SAT is a non-invasive IP test that can be of diagnostic help to demonstrate alterations in the small-mucosal barrier function and may be useful to evaluate therapeutic interventions. The measurement of IP may lead to greater insight in the role of the small-mucosal barrier in various (pediatric) gastrointestinal diseases.

We describe the clinical symptoms and biochemical findings of a patient with succinyl-CoA:acetoacetate transferase deficiency who presented in the neonatal period and review the current literature on this subject. Our patient was initially suspected to have distal renal tubular acidosis, and subsequently, a fasting test revealed severe metabolic ketoacidosis with normal blood glucose after 13 h which suggest a defect in ketolysis. In his cultured skin fibroblasts succinyl-CoA:acetoacetate transferase was deficient (residual activity 15%). Treatment in the acute phase consisted of sodium bicarbonate. At the present age of 9 years, psychomotor and physical development are within normal limits. Conclusion Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis.

Both growth and the course of allergic symptoms were evaluated in 79 infants with cow's milk protein intolerance, aged three months or younger, diagnosed by standard elimination/provocation and treated with a whey-hydrolysate based infant formula: Nutrilon Pept(R) or Pepti Junior(R). The efficacy of both products, in terms of symptomatology and growth, was compared with each other. The products differ in fat source (Pepti Junior 50% of its fat as MCT, Nutrilon Pepti normal LCT fat blend) and the presence of lactose (Pepti Junior: lactose free; Nutrilon Pepti: 40% of its carbohydrate as lactose). The study was part of a large project that aimed at standardising the approach towards cow's milk protein intolerance in Baby Health Clinics. Nearly 50 Baby Health Clinics participated in this project. In this study, growth and symptomatology (skin, respiratory tract, gastrointestinal tract) were monitored during an intervention period of at least 10 weeks. Infants in both feeding groups showed normal growth, and in at least 80% of the infants an improvement of the overall symptomatology could be seen during the intervention period. Most profound were the decreases in prevalence and severity of eczema and infantile colic. No differences in efficacy were found in this study between the two infant formulas. It was concluded that the exclusive use of either whey hydrolysate based infant formula resulted in an improvement of allergic symptoms and in normal growth in infants diagnosed by elimination/provocation for cow's milk protein intolerance in a Primary Health Care setting.