Neurocognitive functioning in school-aged cystinosis patients.

INTRODUCTION: Cystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues. It causes renal Fanconi syndrome and end stage renal failure around the age of 10 years if not treated with cysteamine. Children with cystinosis seem to have a normal intelligence but frequently show learning difficulties. These problems may be due to specific neurocognitive deficits rather than impaired renal function. Whether cysteamine treatment can improve cognitive functioning of cystinosis patients is thus far unknown. We aim to analyze neurocognitive functioning of school-aged cystinosis patients treated with cysteamine in order to identify specific deficits that can lead to learning difficulties. PATIENTS AND METHODS: Fourteen Dutch and Belgian school-aged cystinosis patients were included. Glomerular filtration rate was estimated using the Schwartz formula. Children were tested for general intelligence, visual-motor integration, inhibition, interference, sustained attention, accuracy, planning, visual memory, processing speed, motor planning, fluency and speed, and behavioural and emotional functioning using standardized methods. RESULTS: Glomerular filtration rate ranged from 22 to 120 ml min(-1) 1.73 m(-2). Median full-scale intelligence was below the average of a normal population (87, range 60-132), with a discrepancy between verbal (median 95, range 60-125) and performance (median 87, range 65-130) intelligence. Over 50% of the patients scored poorly on visual-motor integration, sustained attention, visual memory, planning, or motor speed. The other tested areas showed no differences between patients' and normal values. CONCLUSION: Neurocognitive diagnostics are indicated in cystinosis patients. Early recognition of specific deficits and supervision from special education services might reduce learning difficulties and improve school careers.

Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus.

Mental retardation (MR) is generally considered one of the main complications of congenital nephrogenic diabetes insipidus (NDI). However, psychometric studies of NDI patients are scarce and outdated. In the present study, 17 male NDI patients underwent psychological evaluation. Total intelligence quotient of 14 patients was within (n = 13) or above (n = 1) the normal range, 1 patient had an intelligence score between -1 and -2 standard deviations (S.D.) and 2 young patients had a general cognitive index more than 2 S.D. below the norm. Attention deficit hyperactivity disorder criteria were met by 8 out of 17 patients and scores on short-term memory were low in 7 out of 10. No relation between test performances and age at diagnosis or hypernatremia could be found, with the exception of a negative correlation between age at start of therapy and verbal IQ in one age group. Although several explanations for an association between MR and NDI can be postulated, it seems that the current prevalence of MR among patients with this disease is considerably lower than suggested in literature.

The cognitive development of pre-school children treated for chronic renal failure.

Chronic renal failure in young children is associated with impaired cognitive development, but recent studies present a more optimistic perspective. An important question is whether the earlier initiation of renal replacement therapy (RRT) might prevent the reported developmental retardation. The cognitive development of 31 patients (age < 5 years with a serum creatinine clearance of < 20% of normal) undergoing different treatment modalities was monitored by repeated measurements during a prospective 3-year study. Fifteen patients received conservative treatment and 16 patients were on dialysis treatment at the start of the project. We were able to evaluate the effect of the onset of RRT on 12 patients who were transferred from conservative treatment to dialysis. At the beginning of the study, the cognitive development of the total group was significantly delayed (mean developmental index = 78.5, SD = 19.5) compared with a normal population. Patients undergoing conservative treatment scored significantly higher (P < 0.01) than those on dialysis. The effect of starting dialysis treatment appeared to be positive, but only a significant short-term improvement was observed. Follow-up evaluation of 7 patients on conservative treatment and of 9 dialysis patients over a 2-year period did not show any significant change in a positive or negative direction. The present study revealed that pre-school dialysis patients are at risk with respect to their cognitive development. This is particularly true for the group with concomitant disorders. Less severe disease in the group on conservative treatment may be assumed to be a positive contributing factor to the more normal performance of these patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Peritoneal dialysis treatment in children and parental stress.

The burden placed on the parents of a child in dialysis treatment can induce negative effects on the medical treatment and on the psychological development of the child. To identify which families are at risk, both parents of 14 out of 16 eligible patients in continuous ambulatory peritoneal dialysis (CAPD) answered an extensive questionnaire three times during one year. Large differences were found between the families with regard to the amount of stress experienced. Parents of older children (> 5 years) (and particularly parents of children with a failed transplantation) experienced significantly more stress. The nature of the stress was determined more by the psychological aspects than by the medical aspects of the treatment. Concern about the future contributed most to the stress experienced. Therefore, emotional support as well as practical help for families at risk is recommended.

[Retarded motor and cognitive development of young children with severe kidney disorders]. / Achterblijvende motorische en cognitieve ontwikkeling van jonge kinderen met een ernstige nieraandoening.

OBJECTIVE: Medical and technical advances make it possible to treat young children with end-stage renal disease with far-reaching methods such as continuous ambulatory peritoneal dialysis (CAPD) and haemodialysis (HD). We investigated whether chronic renal failure has deleterious effects on motor function and cognitive development. SETTING: The pediatric dialysis centres of the university hospitals of Nijmegen, Utrecht and Rotterdam. DESIGN: Prospective study. METHODS: 18 patients (mean age 37 months) with chronic renal failure since infancy and 18 healthy children (mean age 35 months) as controls were assessed on cognitive and behavioural parameters. Nine patients and 17 control subjects were tested on their motor function. RESULTS: A significant delay (more than one SD) was found in the motor as well as in the cognitive development of the patient group. Within this group a large difference was noticed between patients under conservative treatment (n = 8; mean dev. index 92.0) and those under CAPD or HD treatment (n = 10; mean dev. index 72.4). CONCLUSION: Young dialysis patients are evidently at risk for developmental retardation. Monitoring this vulnerable group by developmental screening and intensive counselling of the parents is strongly recommended.

[Effects of kidney transplantation on cognitive functioning of children]. / Effecten van een niertransplantatie op het cognitief functioneren van kinderen.

The purpose of the study was the assessment of cognitive functioning in 20 children (age 4-14 years) with end stage renal disease (ESRD) before and after kidney transplantations by means of an intelligence-test (WISC-R or WPPSI). Research questions were: I. do the test scores of children with ESRD deviate significantly from those of the norm-group before transplantation; 2. do the test scores of children with ESRD increase significantly from pre- to post-transplantation; 3. do the test scores of children with ESRD after transplantation deviate significantly from those of the norm-group. The results show that children with ESRD before transplantation perform significantly more poorly on the verbal part of the WISC-R. After transplantation they show a significant increase on cognitive functioning, mainly in the verbal part of the test. However, kidney transplantation does not cause a complete recovery of cognitive functioning; after transplantation children with ESRD still showed lower scores on several tasks (e.g. tasks concerning concentration).

[Ethical dilemmas in pediatrics: on competencies and qualifications in decision making]. / Ethische dilemma's binnen de kindergeneeskunde: over bevoegdheden en bekwaamheden in de besluitvorming.

In medicine medical decisions prove to be ethical issues. Whether treatment apart from being medically possible can also be meaningful, or can continue to be meaningful, is an ethical question, where interests, in nature different and sometimes contradictory, must be balanced against each other. In the department of paediatrics the doctor does not have to deal only with the patient himself, but he has also to deal with the parents, who have an interest of their own apart from the child's interest that they want to defend. A personal interpretation of standards and values can lead doctors and parents to different ways of considering the interest of the child. This can interfere with an ethically justified decision. What is essential in this discussion are the limits of everyone's proficiency, competence and responsibility. Starting from a case these notions and their implications for decisions-making will be worked out.