Marc Mimouni

Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone

Summary:  Purpose: To evaluate the outcome of children with cryptogenic infantile spasms treated with high‐dose synthetic adrenocorticotropic hormone (ACTH) and the relation between early treatment, within 1 month of onset, and outcome.

A Multidisciplinary, Comprehensive, Ambulatory Treatment Scheme for Diabetes Mellitus in Children

A study has been carried out on 262 children with juvenile diabetes and their parents, treated up to 10 yr on an ambulatory basis by a multidisciplinary team composed of pediatric endocrinologist, nurse, dietitian, psychologist, and social worker. Comparison of the findings with those of a study performed before inception of the Counselling Center for Juvenile Diabetics revealed the following positive influences: the degree of control attained was both higher and sustained with greater regularity; there were fewer complications with no episodes of coma, brittle diabetes, or severe ketoacidosis and almost no need for hospitalization; the attitude of the affected child, his parents, and his teachers was found to be considerably improved; there was better understanding of the nature of the disease and its requirements; the childs motivation to maintain the diabetic regimen was greater and conflicts within the family circle were markedly reduced; the childs self-concept was much higher; and both scholastic achievements and social adjustment were greater. We concluded that psychological stability is a basic factor in the control of diabetes, and the value of the multidisciplinary approach in the treatment of this chronic disease is indicated.

Head-up tilt for the evaluation of syncope of unknown origin in children

Fifteen patients aged 10 to 18 years with syncope of unknown origin, and 10 healthy control children aged 11 to 18 years, were evaluated by head-up tilt to 60 degrees for 60 minutes. Six patients (43%) reproduced symptoms of syncope during the examination. Four had a typical vasovagal reaction; two had marked hyperventilation. None of the children in the control group had syncope. The head-up tilt test offers a simple, noninvasive, high-yielding diagnostic tool for evaluation of syncope in children.

Is Childhood Vaccination Associated With Asthma? A Meta-analysis of Observational Studies

BACKGROUND. The possible link between immunization and atopic diseases has been under intense debate in the last decade. OBJECTIVE. The aim of this study was to systematically review the available evidence on the association of whole-cell pertussis and BCG vaccination with the risk of asthma in childhood and adolescence. METHODS. The major medical electronic databases (Medline, National Library of Medicine Gateway, and Cochrane Library) were searched, and reference lists of the relevant publications were reviewed for relevant birth-cohort studies and randomized, controlled trials from 1966 to March 2006. Only studies that directly compared vaccinated and unvaccinated children, validated vaccination status by medical charts, and used preset criteria to define asthma were included. Data were abstracted by using a standardized protocol and computerized report form. Results were analyzed by applying a fixed-effect or random-effect model, according to the heterogeneity of the studies. Sensitivity analyses by scoring criteria were performed. RESULTS. Seven studies of pertussis vaccination (with a total of 186663 patients) and 5 studies of BCG vaccination (with a total of 41479 patients) met our inclusion criteria. No statistically significant association was detected between either whole-cell pertussis or BCG vaccination and incidence rates of asthma during childhood and adolescence. This lack of a significant association proved to be robust on sensitivity analyses for BCG but not for pertussis vaccine. CONCLUSIONS. Currently available data, based on observational studies, do not support an association, provocative or protective, between receipt of the BCG or whole-cell pertussis vaccine and risk of asthma in childhood and adolescence.

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed paracrystalline inclusions in most mitochondria. Southern blot of the mitochondrial DNA did not show any large-scale rearrangements. The patient was found to be homozygous for the 656C→T mutation in the pseudouridine synthase 1 gene (PUS1). Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, mental retardation that is due to mutations in the nuclear-encoded PUS1 gene. This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders. (J Child Neurol 2005;20:449—452).

Does the pediatric advanced life support course improve knowledge of pediatric resuscitation

Objective To determine whether the pediatric advanced life support (PALS) course contributes to the knowledge required by health care providers for pediatric resuscitation and whether differences in achievement exist between professional groups. Methods Physicians, nurses, and paramedics from across Israel who registered for PALS were administered a standardized test both before and on completion of the course. Pretest and posttest results were compared by statistical analysis. A score of 80 or higher was considered a passing grade. Results Paired pretest and posttest results were available for 370 participants (72.5%): 128 physicians, 158 nurses, and 84 paramedics. The percentage of participants who passed the course was 83.5% for the entire cohort, 85.9% for physicians, 78.5% for nurses, and 89.3% for paramedics. Physicians and paramedics had higher pretest and posttest scores than nurses. There was a significant improvement in mean posttest scores compared with pretest scores for the entire group (86.6 ± 9.8 vs 78.0 ± 12.7, P < 0.001) and when results were stratified by profession. A significantly greater proportion of participants passed the posttest than the pretest both for the entire cohort (83.5% vs 61.9%, P < 0.0001) and by profession. Conclusions The pediatric advanced life support course significantly increases immediate short-term knowledge of pediatric resuscitation for all professional groups. This finding supports the use of PALS as an educational tool. Further studies are required to determine the effect of PALS on actual performance and outcome of resuscitation.

Jitteriness Beyond the Neonatal Period: A Benign Pattern of Movement in Infancy

Jitteriness is a frequent, well-recognized phenomenon in neonates. Its occurrence in early infancy, beyond the neonatal period, is much less documented. Thirty-eight full-term infants who were jittery after 6 weeks of age were followed until the jitteriness disappeared and then reevaluated at the age of 3 years. The jittery movements had already been observed during the neonatal period in 16 babies but not before 6 weeks of age in 22. In 34 infants (89%), 1- and 5-minute Apgar scores were 9 or 10. At the initial examination, a mildly increased muscle tone was found in 12 infants, and hyperactive deep-tendon reflexes were found in 19. The jitteriness resolved at a mean age of 7.2 ± 3.4 months. At 3 years, 92% of the infants had a normal neurodevelopmental examination, while in the rest only minor, transient disturbances were found. This study indicates that jitteriness as a sole presentation in infants beyond the neonatal period is a benign phenomenon, associated with an excellent prognosis. Its etiology is unknown but seems most likely to be related to a maturational process within the central nervous system. (J Child Neurol 1991;6:243-245).

Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy

Osteopathia striata (OS) is a rare bone dysplasia characterized by longitudinal sclerotic striations of the long bones. It is of no clinical importance, but OS associated with cranial sclerosis represents a separate entity with a high incidence of palatine malformations and deafness. Only 19 cases of this entity have been reported in the literature. One patient of this series also had facial nerve paralysis. This paper presents a second case of OS, cranial sclerosis, palatine pathology and recurrent facial nerve paralysis. This incidence of 2/20 (10%) does not seem to be coincidental but raises the possibility that facial nerve palsy is one of the clinical manifestations of this specific bone abnormality.

Occurrence of supernumerary nipples in children with kidney and urinary tract malformations.

The reported data on the association of kidney and urinary tract malformations with supernumerary nipples are contradictory. We examined 200 children, ages 1 month–16 years, who were being followed because of recurrent urinary tract infection for supernumerary nipples. The patients were divided into two groups: those who were found to have urinary tract malformations on radiographic studies (n=92) and those who were not (n=108). All children were examined for any abnormal pigmentation along the milk line, and the entire body was examined for ectopic supernumerary nipples. Two of the children with proved urinary tract pathology and two of the children with no urinary tract pathology had supernumerary nipples. The odds ratio for having supernumerary nipples among the first group was 1.18 (95% CI: 0.084–16.53, p=0.627). Our results indicate no association between kidney and urinary tract malformations and supernumerary nipples. We believe the message to the practicing physician is that there is no need for radiographic or ultrasonographic investigation of the urinary tract in asymptomatic children found to have supernumerary nipples on routine physical examination.

Retarded skeletal maturation in children with primary enuresis

Primary nocturnal enuresis (PNE) is a common paediatric problem of multifactorial aetiology. Growth and skeletal maturation were studied in 35 otherwise healthy children with PNE, 26 boys and 9 girls aged 6–14 years, and comparison was made with a control (CTR) group of 19 boys and 3 girls aged 6–13 years of similar ethnic origin. There was no significant difference between the mean height and weight centiles of the two groups. Bone age (BA) determined by the TW-2 method showed a significant lag behind chronological age (CA); the CA-BA difference being 1.46±1.56 years in the PNE group and -0.08±0.8 years in the CTR group (P<0.001). In 11 of the PNE group (31%) the BA retardation was greater than 24 months: in 4 it was between 24 to 36 months and in 7 the difference was greather than 36 months. In all these children T4 and TSH were found to be normal.It is hypothesised that the retarded bone age in children with PNE may reflect delayed maturation of regulatory CNS functions.