Educational clinical case series in pediatric allergy and immunology

Eosinophilic inflammation may occur in any part of the intestinal tract from the esophagus to the rectum. Despite 70 yr having passed since the first reference to a case of eosinophilic gastroenteritis, the epidemiology and natural history of eosinophilic gastrointestinal disorders are still poorly known. Insights into their etiology and pathogenesis have revealed an important role for allergens; interleukins 4, 5, and 13; the eotaxin family of chemokines; and eosinophil-derived proteins. Diagnosis is confirmed by typical histologic features in a patient with a suggestive clinical phenotype. Treatment involves eliminating triggering allergens, making dietary restrictions the first choice of therapy in a compliant patient; corticosteroids [topical in eosinophilic esophagitis (EE)], despite the potential for serious side effects, are used with success in refractory and non-compliant patients. In this study we discuss EE and gastroduodenitis against the backdrop of clinical case presentations.     

What''s new in Neurogenetics? Focus on ‘primary microcephaly’

Primary microcephaly is a specific form of microcephaly that is inherited in an autosomal recessive manner. Six loci have been mapped for this condition and the genes at two of these loci have recently been identified. These include the Microcephalin gene at the MCPH1 locus and the ASPM gene at the MCPH5 locus.     

G × E interaction in the organization of attachment: mothers’ responsiveness as a moderator of children’s genotypes

Background: Scholars acknowledge that both biologically‐founded child temperament and environmental factors are influential in determining the quality of infant–mother attachment. We present evidence for gene by environment (G × E) interaction in the organization of attachment. Methods: Participants were 88 typically developing infants and their mothers. Molecular genetic measures of the infants focused on the polymorphism in the serotonin transporter gene (5‐HTTLPR, ss/sl vs. ll genotype). Mothers’ responsiveness to their infants at 7 months was observed in lengthy naturalistic interactions, and was conceptualized as the environmental influence. Results: For infants with a short allele (ss/sl ), variation in mothers’ responsiveness was significantly associated with attachment security, assessed at 15 months in the Strange Situation. For those infants, low responsiveness predicted particularly high risk for insecure attachment, and high responsiveness offset that risk. For infants homozygous for the long allele (ll ), there was no association between responsiveness and attachment organization. Conclusions: The findings show that the quality of early care serves to amplify or offset the risk conferred by genotype.     

Editorial Perspective: Longitudinal research in autism – introducing the concept of ‘chronogeneity’

Autism Spectrum Disorder (ASD or autism) is a heterogeneous neurodevelopmental disorder. We are now at a critical juncture in autism research where we have the knowledge base and expertise to begin to think about studies that view heterogeneity, not as ‘statistical noise’ that can be ‘accounted for’ using data‐reduction techniques (such as group trajectories), but rather as ‘informative variance’ that can help form a more precise and dynamic picture of autism. In this Editorial we coin a new term and introduce the concept of ‘chronogeneity’ for the study of autism heterogeneity in relation to the dimension of time (chrono). Using examples of ongoing research and analytical advances we build the case for the potential utility of the concept of ‘chronogeneity’ and argue that a refined approach to the longitudinal investigation of autism (and other neurodevelopmental disorders) may move us closer to more precise and adaptive models of care for the children and youth affected by these disorders.     

‘On the spot’vaccination: Does it work?

Objective : To trial and evaluate a system of 'on the spot'vaccination for children up to the age of 15 years in the Early Childhood Centres of the Central Sydney Area Health Service, at the Royal Alexandra Hospital for Children and in a number of general practices in the area.
Methodology : A brief questionnaire was used to collect data from parents and health care professionals about the child's vaccination status and vaccines given 'on the spot'.
Results : Over an 8 week period in August-September 1993, 5162 questionnaires were completed; 71% of children were up to date with their vaccination. If Haemophilus influenzae type b vaccine, which had been introduced only 2 months before commencement of the study, was excluded, 84% of the children were up to date. A total of 441 children were given 663 vaccinations 'on the spot'. Very few children were too ill to be vaccinated (6%). However, only 30% of those who needed vaccination 'on the spot'actually received it (441 of 1480), and only 41% (24 of 58) of a subset of those who were not vaccinated were known to have complied 1 month later. Children attending Early Childhood Centres were younger than children attending general practices or the hospital.
Conclusions : A high proportion of children who attended for routine or acute health care had vaccinations overdue (30%). If this scheme could be continued and expanded it would have an important impact on vaccination coverage, and hence on the incidence of vaccine-preventable diseases.     

Infliximab therapy in children with Crohn’s disease: a one‐year evaluation of efficacy comparing ‘top‐down’ and ‘step‐up’ strategies

Background: The aim of this study was to evaluate the efficacy of ‘top‐down’ regimens for the treatment of paediatric Crohn’s disease (CD) and to compare it with the effects of ‘step‐up’ treatment. Methods: We evaluated patients treated with ‘top‐down’ and ‘step‐up’ regimens at 8 weeks after the initiation of treatment, with 1 year of follow‐up. Of the 29 patients who received infliximab, 11 cases refractory to conventional therapy were categorized as the ‘step‐up’ group; and 18 cases, with moderate to severe CD, were categorized as the ‘top‐down’ group. Treatment efficacy was assessed by Pediatric Crohn’s Disease Activity Index (PCDAI) scores. Results: At 8 weeks, remission was achieved in three of 11 patients in the ‘step‐up’ group and 16 of 18 patients in the ‘top‐down’ group. At 1 year, remission was maintained in five of 11 patients and in 15 of 18 patients, in the ‘step‐up’ and ‘top‐down’ groups, respectively. The serum albumin level, erythrocyte sedimentation rate, PCDAI score and perianal fistula status demonstrated significant improvement in the ‘top‐down’ group. Conclusion: In paediatric patients with CD, the infliximab ‘top‐down’ strategy resulted in superior outcomes when compared to the ‘step‐up’ strategy for inducing and maintaining remission at 8 weeks and 1 year posttreatment.     

Insufficient evidence for ‘shaken baby syndrome’ – a systematic review

Shaken baby syndrome has typically been associated with findings of subdural haematoma, retinal haemorrhages and encephalopathy, which are referred to as the triad. During the last decade, however, the certainty with which the triad can indicate that an infant has been violently shaken has been increasingly questioned. The aim of this study was to determine the diagnostic accuracy of the triad in detecting that an infant had been shaken. The literature search was performed using PubMed, Embase and the Cochrane Library up to October 15, 2015. Relevant publications were assessed for the risk of bias using the QUADAS tool and were classified as having a low, moderate or high risk of bias according to predefined criteria. The reference standards were confessions or witnessed cases of shaking or accidents. The search generated 3773 abstracts, 1064 were assessed as possibly relevant and read as full texts, and 30 studies were ultimately included. Of these, 28 were assessed as having a high risk of bias, which was associated with methodological shortcomings as well as circular reasoning when classifying shaken baby cases and controls. The two studies with a moderate risk of bias used confessions and convictions when classifying shaken baby cases, but their different designs made a meta‐analysis impossible. None of the studies had a low risk of bias. Conclusion: The systematic review indicates that there is insufficient scientific evidence on which to assess the diagnostic accuracy of the triad in identifying traumatic shaking (very low‐quality evidence). It was also demonstrated that there is limited scientific evidence that the triad and therefore its components can be associated with traumatic shaking (low‐quality evidence).     

CORD SERUM IMMUNOGLOBULIN LEVELS IN ‘SMALL-FOR-DATES’BABIES*

IgG, IgM and IgA levels were determined in the cord serum of 23 babies who were both ‘small-for-dates’and clinically dysmature. The results confirm that there are abnormalities of humoral immunity in a small proportion of these babies.