Development and validation of a parent-report measure for detection of cognitive delay in infancy.

AIM: To develop a brief, parent-completed instrument (ERIC - Early Report by Infant Caregivers) for detection of cognitive delay in 10- to 24-month-olds born preterm, or of low birthweight, or with perinatal complications, and to establish ERIC's diagnostic properties. METHOD: Scores for ERIC were collected from the parents of 317 children meeting ≥inclusion criterion (birthweight <1500 g, gestational age <34 completed weeks, 5 min Apgar score <7, or presence of hypoxic-ischaemic encephalopathy) and no exclusion criteria. Children were assessed using a criterion score of below 80 on the Bayley Scales of Infant and Toddler Development-III cognitive scale. Items were retained according to their individual associations with delay. Sensitivity, specificity, and positive and negative predictive values were estimated and a truncated ERIC was developed for use in children <14 months old. RESULTS: ERIC correctly detected developmental delay in 17 out of 18 children in the sample, with 94.4% sensitivity, 76.9% specificity, 19.8% positive predictive value, 99.6% negative predictive value, 4.09 likelihood ratio positive, and 0.07 likelihood ratio negative. INTERPRETATION: ERIC has potential value as a quickly administered diagnostic instrument for the absence of early cognitive delay in 10- to 24-month-old preterm infants and as a screen for cognitive delay.

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis. The phenotypes associated with VPS33B mutation may include incomplete ARC.

Randomized, controlled trial of dexamethasone in neonatal chronic lung disease: 13- to 17-year follow-up study: II. Respiratory status, growth, and blood pressure.

OBJECTIVES: To study the growth, health status, and respiratory outcomes at 13 to 17 years of infants enrolled in a double-blind, randomized, controlled trial of dexamethasone for the treatment of neonatal chronic lung disease. PARTICIPANTS: A total of 287 infants who were chronically dependent on supplementary oxygen between 2 and 12 weeks of age were recruited from 31 centers in 6 countries to a double-blind, randomized, controlled trial of dexamethasone base (0.5 mg/kg per day for 1 week) or placebo, and survivors were evaluated at 3 years. Children from the 25 British and Irish centers were traced for reassessment at 13 to 17 years of age. OUTCOME MEASURES: Respiratory symptoms, lung-function testing, height, weight, head circumference, blood pressure, health resource usage, and school absences. RESULTS: There was no significant difference in respiratory outcomes between the dexamethasone and placebo groups. Lung function was impaired but with no difference between the 2 groups. Growth was also impaired in both groups, with height z score of -0.7, weight z score of -0.4, and head circumference z score of -1.1. Systolic blood pressure was >95th percentile for age and height for 15% of children, but with no difference between the 2 groups. There was no difference in the numbers of hospital admissions for respiratory causes or other causes. CONCLUSIONS: Despite a shorter duration of neonatal assisted ventilation, there is no evidence that dexamethasone use is associated with long-term improvement in lung function. Impaired growth and poor health status are long-term consequences of neonatal chronic lung disease, irrespective of exposure to neonatal dexamethasone.

Randomized, controlled trial of dexamethasone in neonatal chronic lung disease: 13- to 17-year follow-up study: I. Neurologic, psychological, and educational outcomes.

OBJECTIVES: To study neurologic, educational, and psychological status in adolescence of neonates enrolled in a double-blind, randomized, controlled trial of dexamethasone therapy for chronic lung disease. PARTICIPANTS: A total of 287 infants who were chronically dependent on supplementary oxygen and were 2 to 12 weeks of age were recruited from 31 centers in 6 countries to a randomized, controlled trial of dexamethasone base (0.5 mg/kg per day for 1 week); 95% of survivors were reviewed at 3 years. Survivors from the 25 British and Irish centers were retraced at 13 to 17 years of age. OUTCOME MEASURES: Nonverbal reasoning, British Picture Vocabulary Scale, Goodman Strengths and Difficulties Questionnaire behavior scores, school national test results, teacher ability ratings, and parental and general practitioner questionnaires. RESULTS: A total of 195 children were eligible for the follow-up study. Information was available for 150 children (77%), with 142 (73%) being assessed in home visits. No baseline differences were detected between the children included in the follow-up study and those not included. There was a slight excess of cerebral palsy in the steroid group, which was not statistically significant (relative risk: 1.58; 95% confidence interval: 0.81-3.07). Overall disability rates in both groups were high (21% moderate and 14% severe), but with no difference between the 2 groups (for severe disability, relative risk: 0.84; 95% confidence interval: 0.37-1.86). CONCLUSIONS: Information was obtained for 150 adolescents randomized to receive dexamethasone or placebo for neonatal chronic lung disease. Rates of disabilities and educational difficulties were high, but with no significant differences between the 2 groups. Some use of open-label steroids in the placebo group plus losses to long-term follow-up monitoring reduced the power of this study to detect clinically important differences, and this study cannot rule out a real increase in cerebral palsy, as reported by others.