Pertussis symptoms in adolescents and children versus infants: the influence of vaccination and age.

This study compared the influence of age and immunization status on symptoms in pediatric patients with pertussis. The files of 60 children, aged 7 to 18 years and 20 infants aged up to 6 months, admitted to our pediatric hospital with a diagnosis of pertussis were reviewed. There were no between-group differences in day and night cough or vomiting. The older group had a longer mean interval to diagnosis than the infants, and the infant group had more symptoms of whooping cough, facial redness during cough, cyanosis, a higher white blood count, a higher percentage of lymphocytes, and more abnormal chest X-rays. Statistically significant differences were found between vaccinated and unvaccinated older children for whooping cough and white blood cell count. Daytime and nighttime coughs are common symptoms of pertussis in all pediatric age groups, regardless of vaccination status. High white blood count is related to immunization status, and percentage of lymphocytes is related to age. In infants, symptoms are more grave but are typical, leading to early diagnosis.

The quick-read C-reactive protein test for the prediction of bacterial gastroenteritis in the pediatric emergency department.

OBJECTIVE: To determine the clinical usefulness of the bedside Quick-Read (QR) C-reactive protein (CRP) test for predicting bacterial gastroenteritis in the pediatric emergency department. STUDY DESIGN: We tested for CRP in 44 children who presented to the emergency department with gastroenteritis and underwent blood tests and stool culture. C-reactive protein was measured in leftover blood or serum (0.2 mL) using the immunoturbidimetric QR-CRP test kit. Background and outcome data were collected from the files. Pearson correlation, analysis of variance, and logistic regression were used to determine the diagnostic ability of CRP. RESULTS: Stool culture was positive for bacteria in 8 patients. High CRP levels correlated with a greater likelihood of a positive culture; the area under the receiver operating characteristics curve was 0.9427. The CRP values of 95 mg/L or higher had a sensitivity of 87% and a specificity of 91.7% for predicting culture-confirmed bacterial gastroenteritis. CONCLUSIONS: The QR-CRP test seems to be a useful predictor of bacterial gastroenteritis in children. It is amenable for use in the emergency department, making it a promising tool for infection control and for aiding physicians in decisions regarding antibiotic treatment. The CRP levels of 95 mg/L or higher during the first 48 hours are suggestive of bacterial disease.

Medical education and quality of care in the pediatric emergency department setting: a combined model.

OBJECTIVES: To describe a combined program for ongoing medical education and quality assurance in the pediatric emergency department. METHODS: Between January and June 2003, all residents and students working in the emergency department of a major tertiary pediatric center were required to participate in a structured 1-h morning session every weekday conducted by the attending physician. The charts of all children who had presented to the emergency department within the last 24 h were systematically reviewed for measures of management and pertinent clinical, academic, or administrative aspects. Radiology reports were reviewed for discrepancies between readings and culture results for appropriateness of treatment. All educational comments, X-ray discrepancies, culture findings that warranted a change in therapy, and unscheduled return visits to the emergency department within 24 h were recorded and statistically analyzed (BMDP software). RESULTS: The charts of 18,663 children aged 3 days to 18 years were reviewed. Educational comments numbered 1527 (8.2% of cases). Significant discrepancies were found in 216 X-ray films (6.1%) and nonsignificant discrepancies in 357 (10.2%). A change in therapy was indicated in 19 of 4005 blood cultures (0.5%), 59 of 1270 urine cultures (4.65%), and 227 other cultures (1.2%). One hundred eighty-three children (1.3%) returned for an unscheduled visit. Over time, there was an increase in nonsignificant X-ray discrepancies and a decrease in educational comments and significant X-rays discrepancies. CONCLUSIONS: A combined program of medical education/quality assurance-improvement in the emergency department is feasible and seems to contribute to improved medical services and patient care.

Oral betamethasone versus intramuscular dexamethasone for the treatment of mild to moderate viral croup: a prospective, randomized trial.

OBJECTIVE: Intramuscular dexamethasone is an effective, but painful, treatment for croup. The effectiveness of betamethasone, an oral, palatable, and equally potent glucocorticoid has not been studied. The purpose of this study was to compare the effectiveness of a single oral dose of betamethasone with intramuscular dexamethasone in the outpatient treatment of mild to moderate croup. METHODS: Children aged 6 months to 6 years presenting to a tertiary care pediatric emergency department (ED) with a modified Westley croup score of 0 to 11 were randomized to receive either 0.6 mg/kg IM dexamethasone or 0.4 mg/kg PO betamethasone. Croup score, heart rate, respiratory rate, pulse oximetry, and need for supplemental treatments were recorded at study entry and at 1, 2, and 4 hours after treatment. Follow-up data were collected by daily telephone follow-up on persistence of symptoms and the need for additional treatment or physician visits up to 7 days after the ED visit. RESULTS: Each study group contained 26 patients. Despite randomization, the mean baseline croup score was higher in the dexamethasone group (3.6 +/- 2.6 vs. 2.0 +/- 2.4, P = 0.03). Patients in both groups showed a significant reduction in the croup score after treatment, and there were no significant differences between croup scores at 4 hours (P = 0.18). Similarly, there were no differences between groups in the hospital admission rate, time to resolution of symptoms, need for additional treatments, or number of return ED visits. CONCLUSION: There is no difference between oral betamethasone and intramuscular dexamethasonein the management of mild to moderate viral croup. It is palatable and does not require a nurse for administration, making it a good alternative for ambulatory management.

Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.

CONTEXT: Resistance to TSH (RTSH) is an inherited disorder of variable hyposensitivity to TSH. The metabolic consequences can range from euthyroid hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Although subclinical and mild hypothyroidism fitting the RTSH phenotype is common in the population, the role of genetic factors is far from being understood. Only in rare cases has RTSH been attributed to TSHR or PAX8 gene mutations. OBJECTIVE, SETTING, AND PARTICIPANTS: Toward the identification of novel RTSH genes, we studied five large, unrelated families comprising 102 individuals, 56 of whom were affected. RESULTS: Inheritance of RTSH in these families followed an autosomal dominant pattern without evidence for incomplete penetrance, yet expressivity was variable. Considering only fully phenotyped generations, 64% of the progeny was affected, with a 1:1.4 male-to-female ratio. Of 18 affected individuals tested in the neonatal period, two were undetected because of borderline results. The thyroid phenotype was indistinguishable from that observed with PAX8 and TSHR defects. In four families, untreated affected subjects of all ages had elevated serum thyroglobulin levels, consistent with a defect in the thyroid follicle cells. Linkage of RTSH to TSHR and PAX8 was excluded in all five families. For the largest families, we likewise excluded a contribution of genes previously only associated with syndromic forms of RTSH, namely TITF1, GNAS, and FOXE1. CONCLUSIONS: These kindreds represent a distinct etiological entity of autosomal dominant RTSH. According to the clinical presentation of these families, genetic causes of mild hyperthyrotropinemia in the general population may be more common than currently appreciated.

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.

Role of diagnosis-specific information sheets in parents' understanding of emergency department discharge instructions.

OBJECTIVES: To investigate the contribution of diagnosis-specific information sheets at discharge from the emergency department on parental understanding of the discharge instructions. METHODS: The study group consisted of a convenience sample of parents of children discharged home from the emergency department of an urban tertiary care pediatric facility (n=95). At discharge by the physician, all were given a disease-specific information sheet to accompany the physician's discharge instructions. Thereafter, the parents were asked to complete the same 13-item questionnaire used in our previous study, covering demographics, level of anxiety, and quality of physician's explanation, in addition to a description, in their own words, of their child's diagnosis and treatment instruction and an indication of their preferred auxiliary method of delivery of information. The findings were compared with the study group in the first phase study (n=287) who did not receive the disease-specific information sheet. The BMDP statistical package was used for the analysis. RESULTS: No statistically significant differences between the two groups in age, sex, and education, level of anxiety before or after the emergency department visit, or time of day were observed. Full understanding of the diagnosis was noted in 73% of the parents who received the information sheet and 72% of the parents in our previous study who did not. Corresponding rates of understanding of the treatment instructions were 92% and 82%. On statistical analysis, the distribution of the diagnosis-specific information sheet significantly improved parental understanding of the treatment instructions (P=0.025), but not of the diagnosis (P=0.54). CONCLUSIONS: Although overall parental understanding of emergency department discharge instructions is good, understanding of the treatment instructions can be further improved with the use of diagnosis-specific information sheets.

Pediatric advanced life support (PALS) courses in Israel: ten years of experience.

BACKGROUND: The Pediatric Advanced Life Support course of the American Heart Association/American Academy of Pediatrics was established in Israel in 1994 and has since been presented to over 3,108 medical and paramedical personnel. OBJECTIVES: To assess the achievements of participants in the PALS course, as a cohort and by professional group, and their evaluations of different aspects of the course; and to describe the educational modifications introduced to the course since its introduction in Israel based on our teaching experience. METHODS: The study sample consisted of physicians, nurses and paramedics from all areas of Israel who registered for PALS between January 2001 and December 2003. Participants took a standardized test before and after the course; a score of 80 or higher was considered a pass. On completion of the course, participants were requested to complete a 24-item questionnaire evaluating the quality of the course as a whole, as well as the lectures, skill stations, and instructors' performance. Items were rated on a 5-point scale. Results were analyzed using the BMPD statistical package. RESULTS: Altogether, 739 subjects participated in 28 courses: 13 attending (in-hospital) physicians (1.8%), 89 community pediatricians (12%), 124 residents (16.8%), 304 nurses (41.1%), and 209 paramedics (28.3%). About half (48.9%) were hospital-based, and about half (47.9%) had no experience in emergency medicine. A passing grade was achieved by 89.4% of the participants; the mean grade for the whole sample was 87.2%. The mean test score of the residents was significantly better than that of the nurses (P < 0.05) and pediatricians (P < 0.01). The median evaluation score for four of the five stations was 5, and the mean overall score for all items was 4.56 (range by item 3.93-4.78). CONCLUSIONS: PALS was successfully delivered to a large number of healthcare providers in various professional groups with very good overall achievements and high participant satisfaction. It significantly increased participants' knowledge of pediatric resuscitation. We therefore recommend the PALS course as an educational tool in Israel.

Use of the urine color test to monitor compliance with isoniazid treatment of latent tuberculosis infection.

STUDY OBJECTIVE: To apply the Arkansas color method in order to evaluate drug compliance and factors that can predict treatment adherence in patients being treated for latent tuberculosis infection (LTBI) with a single daily dose of isoniazid (INH). DESIGN: Prospective study of adherence of 105 patients aged 1 to 75 years who were treated with a single daily dose of INH for LTBI. INTERVENTIONS: Patients or their parents were interviewed regarding parameters that may affect compliance. Urine samples were collected and tested for INH metabolites with the Arkansas color method. RESULTS: Nonadherence to treatment was found in 28.5% of patients. There was no statistically significant correlation among the following parameters: gender; age; diagnosis; mode of administration (self or parents); duration of treatment; dose of INH per weight; or interval since last intake of dose. Twenty-six patients were randomly checked for treatment adherence on two separate visits, and nonadherent patients were informed immediately and their condition was fully explained to them. Five of six patients who were nonadherent in the first visit and were examined twice became adherent in the second visit. Three of 20 patients who were adherent in the first visit became nonadherent. CONCLUSION: Almost one third of the patients who received LTBI treatment with INH were nonadherent to treatment. No factor was found to predict adherence. The Arkansas method can be used by the family physician and is a simple, immediate method to follow-up patients with LTBI who are treated with INH.

Occult constipation: a common cause of recurrent abdominal pain in childhood.

BACKGROUND: An estimated 10% of all children are subject to recurrent attacks of abdominal pain of unknown origin. When no organic cause is found, the working diagnosis is usually functional abdominal pain. OBJECTIVES: To investigate the possible causative role of occult constipation. METHODS: We defined occult constipation as the absence of complaints of constipation on initial medical history or of symptoms to indicate the presence of constipation. The diagnosis was made by rectal examination and/or plain abdominal X-ray. RESULTS: Occult constipation was found to be the cause of RAP in 42.6% of children examined. Treatment consisted of paraffin oil and phosphate enema. In 82.84% of cases the abdominal pain subsided considerably or disappeared within 2 weeks to 3 months of treatment. On telephone interview of the parents at 1-1.5 years after discharge, 96.5% reported that both the abdominal pain and constipation had subsided or disappeared. CONCLUSIONS: Occult constipation can be easily identified and treated in a large number of children with RAP who were diagnosed as having functional abdominal pain.

Do parents understand emergency department discharge instructions? A survey analysis.

BACKGROUND: Understanding discharge instructions is crucial to optimal healing but may be compromised in the hectic environment of the emergency department. OBJECTIVES: To determine parents' understanding of ED discharge instructions and factors that may affect it. METHODS: A convenience sample of parents of children discharged home from the ED of an urban tertiary care pediatric facility (n = 287) and a suburban level II general hospital (n = 195) completed a 13 item questionnaire covering demographics, level of anxiety, and quality of physician's explanation. Parents also described their child's diagnosis and treatment instructions and indicated preferred auxiliary methods of delivery of information. Data were analyzed using the BMPD statistical package. RESULTS: Full understanding was found in 72% and 78% of the parents at the respective centers for the diagnosis, and in 82% and 87% for the treatment instructions (P = NS between centers). There was no statistical correlation between level of understanding and parental age, gender, education, level of anxiety before or after the ED visit, or time of day. The most contributory factor to lack of understanding was staff use of medical terminology. Parents suggested further explanations by a special discharge nurse and written information as auxiliary methods. CONCLUSIONS: Overall, parental understanding of ED discharge instructions is good. However, there remains a considerable number (about 20%) who fail to fully comprehend the diagnosis or treatment directives. This subset might benefit from the use of lay terminology by the staff, institution of a special discharge nurse, or use of diagnosis-specific information sheets.

Validity of the quick-read C-reactive protein test in the prediction of bacterial pneumonia in the pediatric emergency department.

BACKGROUND: C-reactive protein (CRP) values are clinically useful in differentiating viral from bacterial illnesses in children, but the regular test is impractical in the emergency department (ED) setting. OBJECTIVE: To investigate the validity and feasibility of the 2-min bedside Quick Read (QR)-CRP test in the prediction of bacterial pneumonia in children in the ED. METHODS: Fifty randomly selected children aged 4 days to 17 years, who presented to a pediatric ED with symptoms and signs of pneumonia over a 6-month period, were prospectively studied. The diagnosis of bacterial/viral pneumonia was based on clinical and radiological findings. CRP was measured in leftover blood (0.2 ml) using the QR-CRP kit. Clinical and laboratory data were statistically analyzed against CRP values for ability to predict bacterial pneumonia. RESULTS: Thirty-six patients (72%) were diagnosed with bacterial pneumonia and 14 (28%) with viral pneumonia; mean CRP levels were 121.3+/-122 and 27.2+/-26 mg/l, respectively (P=0.007). Significantly higher CRP levels were associated with bacterial than with viral pneumonia in the patients who presented before 96 h of symptom onset (P=0.013-0.028), but not in those who presented later. On receiver operating characteristics analysis, CRP was a better indicator of a chest radiograph picture of bacterial pneumonia (area under the curve=0.79) than absolute neutrophil count (0.78) or white blood cell count (0.73). Combining all three parameters yielded an area of 0.865. CONCLUSION: The QR-CRP test seems to be an useful predictor of bacterial pneumonia in children, especially those with a shorter illness duration, and is feasible for use in the ED.

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 186,663 patients) and 5 studies of BCG vaccination (with a total of 41,479 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.

Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios.

Anorexia nervosa (AN) is a severe and complex psychiatric disorder with a significant genetic contribution. Previously, we found an association between AN and the 158Val/Met polymorphism of the catechol-O-methyltransferase (COMT) gene in a family-based study of 51 Israeli AN trios. In the present study, we extended the original sample to include 85 family trios [66 AN restricting (AN-R) and 19 bingeing/purging (AN-BP) subtype] and performed a family-based transmission disequilibrium test (TDT) analysis for five SNPs in the COMT and two in the adjacent ARVCF gene. Association was found between AN-R and several SNPs in the COMT-ARVCF region including the 158Val/Met polymorphism. TDT analysis of 5-SNP haplotypes in AN-R trios revealed an overall statistically significant transmission disequilibrium (P < 0.001). Specifically, haplotype B [COMT-186C-408G-472G(158Val)-ARVCF-659C(220Pro)-524T(175Val)] was preferentially transmitted (P < 0.001) from parents of AN-R patients to their affected daughters, while haplotype A [COMT-186T-408C-472A(158Met)-ARVCF-659T(220Leu)-524C(175Ala)] was preferentially (P = 0.01) not transmitted. Haplotype B was associated with increased risk (RR 3.38; 0.95CI 1.98-6.43) while haplotype A exhibited a protective effect (RR 0.40; 0.95CI 0.21-0.70) for AN-R. Preferential transmission of the risk alleles and haplotypes from the parents was mostly contributed by the fathers. No significant transmission disequilibrium of alleles or haplotypes was found for AN-BP trios. The risk and protective haplotypes may carry molecular variations in the COMT gene or its vicinity that are relevant to the pathophysiology of restrictive anorexia nervosa in the Israeli-Jewish population.

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.

Vitamin A supplementation and childhood morbidity from diarrhea and respiratory infections: a meta-analysis.

OBJECTIVES: To perform an updated meta-analysis of the effect of vitamin A supplementation on childhood morbidity from respiratory tract infections and diarrhea. Study design A comprehensive search of the 1966 to 2000 MEDLINE database and review of the reference lists of relevant articles identified 9 randomized controlled trials dealing with morbidity from respiratory infections and diarrhea in children 6 months to 7 years of age and provided "intention-to-treat" data. RESULTS: The combined results indicated that vitamin A supplementation has no consistent overall protective effect on the incidence of diarrhea (relative risk, 1.00; 95% CI, 0.94-1.07) and that it slightly increases the incidence of respiratory tract infections (relative risk, 1.08; 95% CI, 1.05-1.11). CONCLUSIONS: High-dose vitamin A supplements are not recommended on a routine basis for all preschool children and should be offered only to individuals or populations with vitamin A deficiency.

Serum sickness-like reaction associated with griseofulvin.

OBJECTIVE: To describe a serum sickness-like reaction associated with griseofulvin in a child being treated for tinea capitis. CASE SUMMARY: A previously healthy 5-year-old boy presented with tactile fever, rash on his legs and back, swelling of his toes and fingers, and leg pain. He was being treated at the time with griseofulvin for tinea capitis. Laboratory evaluation including immunologic workup revealed no abnormalities. Replacement of griseofulvin with itraconazole, along with an antihistamine and a nonsteroidal antiinflammatory drug, led to complete resolution of the patient's symptoms. An objective causality assessment revealed that the adverse reaction was probable. DISCUSSION: Serum sickness-like reactions may occur 7-21 days following exposure to an offending agent. Clinical manifestations are similar to those of serum sickness, with fever, malaise, and cutaneous eruption. However, on laboratory workup, complement levels are normal. Management of serum sickness-like reaction includes replacing the offending agent and providing symptomatic relief. CONCLUSIONS: Clinicians should be aware of the possibility of serum sickness-like reaction associated with griseofulvin therapy and consider the possibility when choosing between griseofulvin and newer, more expensive drugs.

Elevated intraocular pressure associated with steroid treatment for infantile spasms.

PURPOSE: To evaluate the ocular changes and medical and surgical therapy after high-dose systemic steroid treatment in babies with infantile spasm and hypsarrhythmia. DESIGN: Retrospective, noncomparative, interventional case series. PARTICIPANTS: In 5 of the 9 (55%) babies with infantile spasm exposed to systemic corticosteroid treatment, an increase in intraocular pressure (IOP) and optic disc cupping was observed. INTERVENTION: Ophthalmic examination under mild sedation was conducted 3 to 4 weeks after initiation of systemic therapy. Antiglaucoma treatment was given to the patients found to have high IOPs and cup-to-disc ratio changes. Routine follow-up was continued until systemic therapy was completed. MAIN OUTCOME MEASURES: Controlled IOP with a decrease in cupping damage after antiglaucoma therapy. RESULTS: Five patients required antiglaucoma treatment; one also underwent augmented trabeculectomy. Mean IOP decreased in this subgroup from 30.1 +/- 9.5 mmHg to 15.4 +/- 4.2 mmHg in the right eye (P = 0.043) and from 32.6 +/- 7.4 mmHg to 15.2 +/- 1.8 mmHg in the left eye (P = 0.043). Mean cup-to-disc ratio improved from 0.53 +/- 0.2 to 0.37 +/- 0.04 in the right eye (P = 0.06) and from 0.57 +/- 0.12 to 0.35 +/- 0.05 in the left eye (P = 0.042). CONCLUSIONS: The rapid onset of IOP and cup-to-disc ratio changes in patients with infantile spasm and hypsarrhythmia treated by high-dose corticosteroids necessitates early and intensive monitoring to prevent anatomic ocular damage and visual impairment in the future.

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

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. METHODS: We assessed the long-term cognitive and seizure outcomes of 37 patients with cryptogenic infantile spasms (onset, age 3 to 9 months) receiving standardized treatment regimen of high-dose tetracosactide depot, 1 mg IM every 48 h for 2 weeks, with a subsequent 8- to 10-week slow taper and followed by oral prednisone, 10 mg/day for a month, with a subsequent slow taper for 5 months or until the infant reached the age of 1 year, whichever came later. Development was assessed before treatment. Seizure outcomes were followed up prospectively. Cognitive outcomes were determined after 6 to 21 years and analyzed in relation to treatment lag and pretreatment regression. RESULTS: Twenty-two infants were treated within 1 month of onset of infantile spasms, and 15 after 1 to 6.5 months. Normal cognitive outcome was found in all 22 (100%) patients of the early-treatment group, and in 40% of the late-treatment group. Normal cognitive outcome was found in all 25 (100%) patients who had no or only mild mental deterioration at presentation, including four in the late-treatment group but in only three of the 12 patients who had had marked or severe deterioration before treatment. CONCLUSIONS: Early treatment of cryptogenic infantile spasms with a high-dose ACTH protocol is associated with favorable long-term cognitive outcomes. Once major developmental regression lasts for a month or more, the prognosis for normal cognitive outcome is poor. Further studies are needed on the optimal treatment regimen for this disorder.

CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.

The human small-conductance Ca(2+)-activated potassium channel gene KCNN3 has been involved in mechanisms underlying neuronal function and plasticity. A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. We have previously reported in a family-based study that longer CAG repeats are preferentially transmitted to patients with anorexia nervosa (AN). The present study extends the analysis of KCNN3 allele distribution to a larger series of AN female patients and control groups, incorporating information on ethnicity and co-morbidities associated with AN. The data analysis is presented while considering separately the two alleles of each individual, namely a minor (shorter) and a major (longer) allele. This study has found that the KCNN3 allele distribution in the general Israeli population does not differ significantly in at least four Jewish ethnic groups of Ashkenazi, North African, Iraqi, and Yemenite origin. These have been used as control groups in a matched case-control analysis that has demonstrated a significant over-representation of KCNN3 alleles with longer CAG repeats among AN patients (P < 0.001 for the major allele and P = 0.035 for allele sum). Under dichotomization, a significantly higher prevalence of the L allele (>19 repeats) has been observed among AN patients (P < 0.001). While considering AN and co-morbid phenotypes, a tendency towards longer (L) alleles has been observed in the subset of patients with obsessive-compulsive disorder (OCD) co-morbidity. These findings further implicate KCNN3 as a significant contributor to predisposition to AN.