Peanut allergy and allergic airways inflammation.

Asthma is a major risk cofactor for anaphylactic deaths in children with peanut allergy. Peanut allergy is generally thought to be a lifelong condition, but some children outgrow their coexistent asthma. It has recently been shown that children who have ‘outgrown’ their asthma symptoms may have ongoing eosinophilic airways inflammation. The need for regular inhaled corticosteroid treatment in peanut allergic children and adolescents who have outgrown their asthma is however unclear. The aims of our study were to look at fractional exhaled nitric oxide levels (FeNO), as a non-invasive marker of eosinophilic airways inflammation, in peanut allergic children and assess whether children with outgrown asthma had elevated levels. Children with peanut allergy were recruited at two pediatric allergy clinics in Belfast, UK. Exhaled nitric oxide levels (FeNO) were measured using the Niox Mino in all children. Of the 101 peanut allergic children who consented for enrolment in the study, 94 were successfully able to use the NIOX Mino. Age range was 4–15 yr (median 10 yr); 61% were boys. Thirty (32%) had never wheezed, 37 (39%) had current treated asthma, 20 (21%) had at least 1 wheezing episode within the last year but were not taking any regular asthma medication (wheeze no treatment), and 7 (7%) had outgrown asthma. All children with outgrown asthma had elevated levels of FeNO (>35 ppb), and 75% of children defined as ‘wheeze no treatment’ had elevated FeNO levels (>35 ppb). Outgrown asthma and children defined as ‘wheeze no treatment’ had higher levels of FeNO than those with no history of wheeze or current treated asthma (p = 0.003). In children with peanut allergy, we found that those who had outgrown asthma had elevated FeNO levels in keeping with ongoing eosinophilic airways inflammation.

The extent and nature of family alcohol and drug use: Findings from the Belfast Youth Development Study

Using data from an ongoing longitudinal study of adolescent drug use, this study examines the proportion of teenagers living with parents who are problem alcohol or drug users. Around two percent of parents report high levels of problem drinking and one per cent report problem drug use. If a broader definition of hazardous drinking is used, the proportion of teenagers exposed increases to over 15 per cent. When substance use is examined at a family level (taking account of alcohol and drug use amongst dependent children in addition to that of parents), the proportion of families experiencing some form of substance use is considerable. These findings add further support to the call for increased recognition of the needs of dependent children within adult treatment services when working with parents. Likewise, the reduction of harm to children as a result of parent substance use should be an increasingly important priority for family support services. This is likely to be achieved through the closer integration of addiction and family services.

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical features, there have been few new data on its prevalence and on the proportion of cases due to new mutations. We have performed a retrospective epidemiological study on the prevalence of TSC, the clinical features attributed to it, and the availability of mutational analysis. We identified 73 known patients with TSC (5 deceased): 39 were female and 34 male. Ages ranged from 10 months to 69 years, with a mean age of 27 years 11 months (SD 16y 10mo). The point prevalence of TSC in our study was estimated at I out of 24 956 on the prevalence day (30 April 2004). The majority of patients (42.5%) were diagnosed at less than 15 months of age; 25% were not given a diagnosis on first developing symptoms. In all, 93.2% had epilepsy and 71.2% had a learning disability.* A mutation was identified in 95.8% of those tested (26% TSC1 and 74% TSC2). TSC2 mutations were correlated with a more severe phenotype. The new mutation rate was calculated at 64%. We conclude that the prevalence of TSC is higher than previously calculated. We recommend that all children with epilepsy be assessed for features of TSC. Larger studies will be required to assess the prevalence of mutations in each gene, and genotype-phenotype correlation.

Mosaic monosomy 14: clinical features and recognizable facies

A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation. (C) 2004 Lippincott Williams Wilkins.

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

Hereditary ataxias and paediatric neurology: new movers and shakers enter the field

Over 25 autosomal dominant and autosomal recessive spinocerebellar ataxias have been isolated over the last decade. The recognition of paediatric ataxia phenotypes and, in addition, other movement disorders including hereditary choreiform and parkinsonian syndromes, has improved our knowledge of these diseases. Advances in molecular genetics has allowed fuller delineation and better recognition of these diseases. (C) 2003 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Counselling and Mental Health Nursing: The Interface

In this piece, the authors suggest that the long term misinterpretation of the subtle and unique differences between the concepts of “counselling” and “nursing” has fuelled an uncertainty within mental health as to the true nature and essence of the role / scope of professional practice of the mental health nurse, which has important implications for practitioners, educators and patients alike.

Age-related changes in energy efficiency of gait, activity, and participation in children with cerebral palsy

Aim
The aim of this study was to use a prospective longitudinal study to describe age-related trends in energy efficiency during gait, activity, and participation in ambulatory children with cerebral palsy (CP).

Method
Gross Motor Function Measure (GMFM), Paediatric Evaluation of Disability Inventory (PEDI), and Lifestyle Assessment Questionnaire-Cerebral Palsy (LAQ-CP) scores, and energy efficiency (oxygen cost) during gait were assessed in representative sample of 184 children (112 male; 72 female; mean age 10y 9mo; range 4–16y) with CP. Ninety-four children had unilateral spastic CP, 84 bilateral spastic CP, and six had other forms of CP. Fifty-seven were classified as Gross Motor Function Classification System (GMFCS) level I, 91 as level II, 22 as level III, and 14 as level IV). Assessments were carried out on two occasions (visit 1 and visit 2) separated by an interval of 2 years and 7 months. A total of 157 participants returned for reassessment.

Results
Significant improvements in mean raw scores for GMFM, PEDI, and LAQ-CP were recorded; however, mean raw oxygen cost deteriorated over time. Age-related trends revealed gait to be most inefficient at the age of 12 years, but GMFM scores continued to improve until the age of 13 years, and two PEDI subscales to age 14 years, before deteriorating (p<0.05). Baseline score was consistently the single greatest predictor of visit 2 score. Substantial agreement in GMFCS ratings over time was achieved (?lw=0.74–0.76).

Interpretation
These findings have implications in terms of optimal provision and delivery of services for young people with CP to maximize physical capabilities and maintain functional skills into adulthood.

Lest we forget: Remembering the consequences of child neglect - A clarion call to "feisty advocates"

It is widely acknowledged that, across the United Kingdom and the USA, childcare practitioners often struggle with cases of child neglect, because of the difficulties involved in attempting to define the problem at hand, and balancing these cases with others in the caseload that may appear more pressing, such as physical abuse. Consequently, in an attempt to refocus the lens of professional policy and practice, this article will profile a number of research studies that have highlighted the profound developmental deficits that neglect can cause, relative to other forms of child maltreatment, and a range of interventions that have proven to be effective with these types of cases. The article concludes with a discussion of the potential negative impact of the current financial crisis for neglected children.

Parenting stress and children with cerebral palsy: A European cross-sectional survey

Aim
The aim of this study was to describe stress in the parents of children with cerebral palsy and investigate associations with very high stress.

Method
A cross-sectional survey was conducted of parents of 818 children aged 8 to 12 years from nine regions in Europe. Families were eligible to participate if they were living in one of the specified geographic areas. Parental stress was captured using the Parenting Stress Index Short Form, which has 36 items and takes 10 minutes to complete. Parents rate items on a 5-point Likert scale, with higher scores indicating higher stress. The Short Form yields scores on three subscales and a Total Stress score. A trained research associate administered the questionnaire in the child’s home and visits lasted 90 to 120 minutes. All data collected were reported by parents unless otherwise stated.

Results
The Total Stress score on the Parenting Stress Index was dichotomized into scores of less than 99 or 99 or more, the latter indicating ‘very high’ stress. Most respondents were mothers (94%), and 26% reported very high stress levels. The parents of children with communication impairment had higher odds for very high stress (odds ratio [OR] 1.9; 95% confidence interval [CI] 1.2–3.0) than those whose child had no such impairment; the parents of children with moderate or severe pain had higher odds for very high stress (OR 1.7 [95% CI 1.1–2.4] and 2.5 [95% CI 1.5–4.3] respectively) than those whose child had no pain; and the parents of children with an intellectual impairment had higher odds for very high stress (OR 1.8; 95% CI 1.2–2.9) than those whose child had none. There was no association between very high stress and motor impairment. The subscales ‘parent–child dysfunctional interaction’ and ‘difficult child’ contributed most to the Total Stress score.

Interpretation
Parents of children with communication difficulties, intellectual impairment, or pain are at very high risk of stress. The final model explained 12% of the observed variation in very high stress.