Showing papers in "Archives of Disease in Childhood in 2014"

Diagnosis and management of primary ciliary dyskinesia

Abstract: Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis is invariable. Organ laterality defects, usually situs inversus, occur in ∼50% of cases. The estimated prevalence of PCD is up to ∼1 per 10,000 births, but it is more common in populations where consanguinity is common. This review examines who to refer for diagnostic testing. It describes the limitations surrounding diagnosis using currently available techniques and considers whether recent advances to genotype patients with PCD will lead to genetic testing and screening to aid diagnosis in the near future. It discusses the challenges of monitoring and treating respiratory and ENT disease in children with PCD.

Management of Kawasaki disease

Abstract: Kawasaki disease (KD) is an acute self-limiting inflammatory disorder, associated with vasculitis, affecting predominantly medium-sized arteries, particularly the coronary arteries. In developed countries KD is the commonest cause of acquired heart disease in childhood. The aetiology of KD remains unknown, and it is currently believed that one or more as yet unidentified infectious agents induce an intense inflammatory host response in genetically susceptible individuals. Genetic studies have identified several susceptibility genes for KD and its sequelae in different ethnic populations, including FCGR2A, CD40, ITPKC, FAM167A-BLK and CASP3, as well as genes influencing response to intravenous immunoglobulin (IVIG) and aneurysm formation such as FCGR3B, and transforming growth factor (TGF) β pathway genes. IVIG and aspirin are effective therapeutically, but recent clinical trials and meta-analyses have demonstrated that the addition of corticosteroids to IVIG is beneficial for the prevention of coronary artery aneurysms (CAA) in severe cases with highest risk of IVIG resistance. Outside of Japan, however, clinical scores to predict IVIG resistance perform suboptimally. Furthermore, the evidence base does not provide clear guidance on which corticosteroid regimen is most effective. Other therapies, including anti-TNFα, could also have a role for IVIG-resistant KD. Irrespective of these caveats, it is clear that therapy that reduces inflammation in acute KD, improves outcome. This paper summarises recent advances in the understanding of KD pathogenesis and therapeutics, and provides an approach for managing KD patients in the UK in the light of these advances.

Sleep patterns in children with autistic spectrum disorders: a prospective cohort study

Abstract: Objective To investigate longitudinal sleep patterns in children with autistic spectrum disorders (ASDs). Study design Prospective longitudinal study using Avon Longitudinal Study of Parents and Children, an English cohort born in 1991–1992. Parental reports of sleep duration were collected by questionnaires at 8 time points from 6 months to 11 years. Children with an ASD diagnosis at age 11 years (n=73) were identified from health and education records. Results From aged 30 months to 11 years old, children with ASD slept for 17–43 min less each day than contemporary controls. No significant difference in total sleep duration was found in infancy, but from 30 months of age children with ASD slept less than their peers, a difference that remained significant after adjusting for sex, ethnicity, high parity and epilepsy. The reduction in total sleep was wholly due to changes in night rather than daytime sleep duration. Night-time sleep duration was shortened by later bedtimes and earlier waking times. Frequent waking (3 or more times a night) was also evident among the children with ASD from 30 months of age. Age-specific decreases of >1SD within individuals in sleep duration across adjacent time points was a predictor of ASD between 18 months and 30 months of age (p=0.04) and from 30 months to 42 months (p=0.02). Conclusions Sleep duration in children with ASD is reduced from 30 months of age and persists until adolescence.

Why is kernicterus still a major cause of death and disability in low-income and middle-income countries?

Abstract: Neonatal jaundice is predominantly a benign condition that affects 60%-80% of newborns worldwide but progresses to potentially harmful severe hyperbilirubinaemia in some. Despite the proven therapeutic benefits of phototherapy for preventing extreme hyperbilirubinaemia, acute bilirubin encephalopathy or kernicterus, several low-income and middle-income countries (LMIC) continue to report high rates of avoidable exchange transfusions, as well as bilirubin-induced mortality and neurodevelopmental disorders. Considering the critical role of appropriate timing in treatment effectiveness, this review set out to examine the contributory factors to the burden of severe hyperbilirubinaemia and kernicterus based on the 'three delays model' described by Thaddeus and Maine in the 91 most economically disadvantaged LMICs with Gross National Income per capita ≤US$6000 and median human development index of 0.525 (IQR: 0.436-0.632). Strategies for addressing these delays are proposed including the need for clinical and public health leadership to curtail the risk and burden of kernicterus in LMICs.

Adherence in childhood asthma: the elephant in the room

Abstract: Adherence to inhaled steroids is suboptimal in many children with asthma and can lead to poor disease control. Many previous studies in paediatric populations have used subjective and inaccurate adherence measurements, reducing their validity. Adherence studies now often use objective electronic monitoring, which can give us an accurate indication of the extent of non-adherence in children with asthma. A review of the studies using electronic adherence monitoring shows that half of them report mean adherence rates of 50% or below, and the majority report rates below 75%. Reasons for non-adherence are both intentional and non-intentional, incorporating illness perceptions, medication beliefs and practical adherence barriers. Interventions to improve adherence in the paediatric population have had limited success, with the most effective containing both educational and behavioural aspects.

Cardiovascular disease in Noonan syndrome

Abstract: Background Noonan syndrome (NS), a relatively common autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births, is the most common syndromic cause of congenital heart disease after Trisomy 21. Objective To comprehensively define the spectrum of cardiac morphology and specific clinical course of a large cohort of NS patients. Design Retrospective, descriptive case series study. Patients An international Harvard-based NS registry was combined with clinical data from NS patients followed at Boston Children’s Hospital, Massachusetts, USA. Results We identified 293 patients with NS. Cardiovascular disease was seen in 81% (n=237) including pulmonary stenosis in 57%, secundum atrial septal defects in 32% and hypertrophic cardiomyopathy in 16%. A genetic mutation of the RAS-MAPK signalling pathway was identified in 62% (n=136). Genotype-phenotype associations were noted between PTPN11 mutations and atrial septal defects (p=0.001), and pulmonary stenosis (p RAF1 mutations were associated with hypertrophic cardiomyopathy (p Conclusions Patients with NS have a distinct spectrum of cardiac phenotypes that may have a natural history and response to therapy atypical to that normally seen in non-syndromic heart disease. A diagnosis of NS in a patient with pulmonary stenosis or infant-onset hypertrophic cardiomyopathy would facilitate condition-specific counselling on outcome and prognosis.

Assessment and management of anxiety disorders in children and adolescents

Abstract: Anxiety disorders in childhood and adolescence are extremely common and are often associated with lifelong psychiatric disturbance. Consistent with DSM-5 and the extant literature, this review concerns the assessment and treatment of specific phobias, separation anxiety disorder, generalised anxiety disorder, social anxiety disorder, panic disorder and agoraphobia. Evidence-based psychological treatments (cognitive behaviour therapy; CBT) for these disorders have been developed and investigated, and in recent years promising low-intensity versions of CBT interventions have been proposed that offer a means to increase access to evidence-based treatments. There is some evidence of effectiveness of pharmacological treatments for anxiety disorders in children and young people, however, routine prescription is not recommended due to concerns about potential harm.

Patterns of burns and scalds in children

Abstract: Objective: To describe the characteristics of childhood burns and scalds, mechanisms and agents to inform prevention. Methods: Prospective multicentred cross-sectional study of children (<16 years) with unintentional burns/scalds from five Emergency Departments (ED), a burns assessment unit and three regional children's Burns Units. Data collected: site, severity, distribution of the burn/scald, age, motor development of the child, agent and mechanism of the injury. Comparative analysis for children <5 and 5–16 years. Results: Of 1215 children, 58% (709) had scalds, 32% (390) contact burns and 116 burns from other causes, 17.6% (214/1215) were admitted to hospital and the remaining treated in ED or burns assessment centre. 72% (878) were <5 years, peak prevalence in 1-year-olds. Commonest scald agent (<5 years) was a cup/mug of hot beverage 55% (305/554), and commonest mechanism was a pull-down injury 48% (66/554). In 5–16-year-olds, scalds were from hot water 50% (78/155) and spill injuries 76% (118/155). Scalds affected the front of the body in 96% (680/709): predominantly to the face, arms and upper trunk in <5-year-olds, older children had scalds to the lower trunk, legs and hands. Contact burns (<5 years) were from touching 81% (224/277) hot items in the home, predominant agents: hair straighteners or irons 42% (117/277), oven hobs 27% (76/277), 5–16-year-olds sustained more outdoor injuries 46% (52/113). 67% (262/390) of all contact burns affected the hands. Conclusions: Scalds to infants and toddlers who pull hot beverages over themselves or sustain burns from touching irons, hair straighteners or oven hobs are a high priority for targeted prevention.

Preterm birth and subsequent insulin sensitivity: a systematic review

Abstract: Objective The incidence of preterm birth is increasing worldwide. Evidence suggests that in later life these children are at increased risk of ‘metabolic syndrome’, which is itself associated with reduced insulin sensitivity (IS). We carried out a systematic review to examine whether preterm birth is associated with later changes in IS and whether a difference exists between those born small-for-gestational age (SGA) and appropriate-for-gestational age (AGA). Methods We used the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidance to structure our review with a priori data extraction criteria to answer the questions posed and then carried out our literature search. Only papers which included preterm infants in their study population and specifically assessed IS were included. Findings are reported by age group to enable change over the life course to be examined, even though the studies were mostly cross-sectional, observation studies. Results We identified and reviewed 26 suitable publications representing 20 separate cohorts, of which 16 had a term control group. The heterogeneity of the methods used to measure IS precluded meta-analysis. In infancy and early childhood there is a measurable association between IS and preterm birth. In later childhood and adulthood the strength of this association reduces, and current body composition becomes the variable most strongly associated with IS. Conclusions There is an association between preterm birth and IS throughout the life course, but the data are conflicting and associations are likely to be affected by the heterogeneity of each study population and multiple confounding factors that may change over time. While the optimal nutritional strategy for preterm infants remains to be determined, standard public health guidance to avoid obesogenic lifestyle factors remains equally important to individuals born preterm.

Gender bias in child care and child health: global patterns

Abstract: Gender-based discrimination is reported across the spectrum of paediatric healthcare including emergency, inpatient, outpatient and preventive care and is mostly reported from South Asia and China with sporadic reports from Africa and South America. Biases against young girls have been documented even in immunisation percentage, home food allocation, seeking medical care for childhood ailments and percentage of household healthcare expenditures allocated to them. Such gender discrimination in access to medical care is likely to have an influence on the overall health of female children. Over the last five decades, the under-5 sex ratios are worsening in India with declining number of girls. Deliberate parental neglect of girls' essential and life-saving medical care is also an important contributing factor apart from sex-selective abortions to the declining gender ratios. Corrective measures and focused action are needed.

Predictors of increasing BMI during the course of diabetes in children and adolescents with type 1 diabetes: data from the German/Austrian DPV multicentre survey

Abstract: Objective Increased weight gain has been reported prior to disease onset (accelerator hypothesis) and as a side effect of intensified insulin therapy in type 1 diabetes (T1D). Paediatric studies are complicated by the age-dependency and gender-dependency of BMI, and also by a trend towards obesity in the general population. The aim of this study was to evaluate factors related to the increase in BMI during the course of diabetes in children and adolescents with T1D in a large multicentre survey. Design Within the DPV database (Diabetespatienten Verlaufsdokumentation) a standardised, prospective, computer-based documentation programme, data of 53 108 patients with T1D, aged Results 12.5% of T1D patients were overweight and 2.8% were obese. Multiple longitudinal regression analysis revealed that female gender, low BMI at diabetes onset, intensified insulin therapy and higher insulin dose, as well as pubertal diabetes onset, long diabetes duration and onset in earlier calendar years among girls, were related to higher BMI-SDS increase during the course of diabetes (p Conclusions Intensified insulin regimen is associated with weight gain during T1D treatment, in addition to demographic variables. Optimisation of diabetes management, especially in females, might limit weight gain in order to reduce overweight and obesity together with comorbidities among paediatric T1D patients.

Pediatric Emergency Care Applied Research Network head injury clinical prediction rules are reliable in practice

Abstract: Objective The Pediatric Emergency Care Applied Research Network (PECARN) traumatic brain injury (TBI) age-based clinical prediction rules identify children at very low risk of a significant head injury who can safely avoid CT. Our goal was to independently validate these prediction rules. Design Cross-sectional study. Setting Two paediatric emergency departments located in USA and in Italy. Patients All children presenting within 24 h of a head injury with a Glasgow Coma Score of ≥14. Intervention Assessment of PECARN TBI clinical predictors. Main outcome measure Clinically important TBI defined as head injury resulting in death, intubation for >24 h, neurosurgery or two or more nights of hospitalisation for the management of head trauma. Results During the study period, we included 2439 children (91% of eligible patients), of which 959 (39%) were Conclusions In our external validation, the age-based PECARN TBI prediction rules accurately identified children at very low risk for a clinically significant TBI and can be used to assist CT decision making for children with minor blunt head trauma.

Reducing the global burden of childhood unintentional injuries

Abstract: Among 1-19-year olds, unintentional injuries accounted for 12% of 51 million global deaths from injuries in 2010 Despite this high burden, childhood injuries have not received much attention in global health This paper describes the major causes of deaths from childhood unintentional injuries and provides a review of interventions for reducing this burden About 627,741 deaths were due to unintentional injuries in 2010 among 1-19-year olds The proportionate mortality increased with age-from 126% among 1-4-year olds to 288% among 15-19-year olds Deaths from Western sub-Saharan Africa and South Asia accounted for more than 50% of all deaths Rates in these regions are 680 and 364 per 100 000 population, respectively, compared to 64 in Western Europe Road traffic injuries (RTI) are the commonest cause of death, followed by deaths from drowning, burns and falls Male children are more predisposed to unintentional injuries except for burns which occur more frequently among females in low and middle income countries (LMICs) Effective solutions exist--including barriers for preventing drowning; safer stoves for burns; child restraint systems for RTI--but the effectiveness of these measures need to be rigorously tested in LMICs The general lack of a coordinated global response to the burden of childhood unintentional injuries is of concern The global community must create stronger coalitions and national or local plans for action Death rates for this paper may have been underestimated, and there is need for longitudinal studies to accurately measure the impact of injuries in LMICs

Probiotics in the prevention of eczema: a randomised controlled trial

Abstract: Objective To evaluate a multistrain, high-dose probiotic in the prevention of eczema. Design A randomised, double-blind, placebo-controlled, parallel group trial. Settings Antenatal clinics, research clinic, children at home. Patients Pregnant women and their infants. Interventions Women from 36 weeks gestation and their infants to age 6 months received daily either the probiotic ( Lactobacillus salivarius CUL61, Lactobacillus paracasei CUL08, Bifidobacterium animalis subspecies lactis CUL34 and Bifidobacterium bifidum CUL20; total of 10 10 organisms/day) or matching placebo. Main outcome measure Diagnosed eczema at age 2 years. Infants were followed up by questionnaire. Clinical examination and skin prick tests to common allergens were done at 6 months and 2 years. Results The cumulative frequency of diagnosed eczema at 2 years was similar in the probiotic (73/214, 34.1%) and placebo arms (72/222, 32.4%; OR 1.07, 95% CI 0.72 to 1.6). Among the secondary outcomes, the cumulative frequency of skin prick sensitivity at 2 years was reduced in the probiotic (18/171; 10.5%) compared with the placebo arm (32/173; 18.5%; OR 0.52, 95% CI 0.28 to 0.98). The statistically significant differences between the arms were mainly in sensitisation to cow9s milk and hen9s egg proteins at 6 months. Atopic eczema occurred in 9/171 (5.3%) children in the probiotic arm and 21/173 (12.1%) in the placebo arm (OR 0.40, 95% CI 0.18 to 0.91). Conclusions The study did not provide evidence that the probiotic either prevented eczema during the study or reduced its severity. However, the probiotic seemed to prevent atopic sensitisation to common food allergens and so reduce the incidence of atopic eczema in early childhood. Trial registration Number ISRCTN26287422.

Epidemiology, aetiology and management of visual impairment in children

Abstract: An estimated 19 million of the world's children are visually impaired, while 1.4 million are blind. Using the UK as a model for high income countries, from a population-based incidence study, the annual cumulative incidence of severe visual impairment/blindness (SVL/BL) is estimated to be 6/10 000 by age 15 years, with the incidence being highest in the first year of life. The population of visually impaired children within high, middle and lower income countries differ considerably between and within countries. The numerous and mainly uncommon disorders which can cause impaired vision result in heterogeneous population which includes a substantial proportion (for SVI/BL, the majority) of children with additional systemic disorders or impairments whose needs differ substantially from those with isolated vision impairment. Paediatricians and other paediatric professionals have a key role in early detection and multidisciplinary management to minimise the impact of visual impairment (VI) in childhood.

Conservative management of antenatally diagnosed cystic lung malformations.

Abstract: Aim To review the outcome of all antenatally diagnosed conservatively managed congenital lung malformations (CLMs) managed at our centre. Methods All patients diagnosed antenatally with cystic lung malformations from 2001 to 2011, at a tertiary referral paediatric surgical centre practising a policy of conservative management of asymptomatic cases, were retrospectively reviewed. Data were collected from medical case notes and radiology reports. Ethical approval was obtained from our institutional research and development department. Results The complete records of 74 fetuses antenatally diagnosed with CLM were reviewed. There were 72 live births, at a median gestation of 39.6 weeks. Emergency lobectomy was performed in one symptomatic neonate. Elective lobectomies were performed at parental request in three asymptomatic infants, one of whom had a family history of synovial sarcoma. Two patients developed pneumonia in the affected lobe during early childhood and proceeded to lobectomy at the age of 3 years. One patient with a bronchopulmonary sequestration required embolisation for cyanotic episodes. The remaining 65 patients have been conservatively managed to date, and none have required hospital admission. Less than a quarter report mild respiratory symptoms such as cough or wheeze. Median follow-up is 5 years. Conclusions This retrospective cohort study of 74 consecutive CLMs diagnosed antenatally over a 10-year period demonstrates that most of these lesions will remain asymptomatic throughout childhood. Although the natural history of CLMs in later years remains to be elucidated, we hope that this report on medium-term outcomes will be useful to clinicians who undertake antenatal counselling and may inform the discussion on how best to manage these children.

Diagnosing developmental coordination disorders

Abstract: Developmental coordination disorder (DCD) affects around 5% of children and commonly overlaps with other developmental disorders including: attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs) and specific language impairment (SLI). There is evidence to demonstrate the wide-ranging impact on all areas of functioning including psychiatric and learning domains. There is increasing evidence of the continuing impact into adulthood and the long-term negative effects on relationships and employment. There is a need for early identification and intervention to limit the likelihood of these secondary consequences from emerging. This paper addresses the diagnosis of DCD.

Abandonment of childhood cancer treatment in Western Kenya

Abstract: Background The most important reason for childhood cancer treatment failure in low-income countries is treatment abandonment. Objective The aim of this study was to explore reasons for childhood cancer treatment abandonment and assess the clinical condition of these children. Design This was a descriptive study using semistructured questionnaires. Home visits were conducted to interview families of childhood cancer patients, diagnosed between January 2007 and January 2009, who had abandoned treatment at the Moi Teaching and Referral Hospital (MTRH). Results Between January 2007 and January 2009, 222 children were newly diagnosed with a malignancy at MTRH. Treatment outcome was documented in 180 patients. Of these 180 patients, 98 (54%) children abandoned treatment. From December 2011 until August 2012, 53 (54%) of the 98 families were contacted. Due to lack of contact information, 45 families were untraceable. From 53 contacted families, 46 (87%) families agreed to be interviewed. Reasons for abandonment were reported by 26 families, and they were diverse. Most common reasons were financial difficulties (46%), inadequate access to health insurance (27%) and transportation difficulties (23%). Most patients (72%) abandoned treatment after the first 3 months had been completed. Of the 46 children who abandoned treatment, 9 (20%) were still alive: 6 (67%) of these children looked healthy and 3 (33%) ill. The remaining 37 (80%) children had passed away. Conclusions Prevention of childhood cancer treatment abandonment requires improved access to health insurance, financial or transportation support, proper parental education, psychosocial guidance and ameliorated communication skills of healthcare providers.

Identifying the best body mass index metric to assess adiposity change in children

Abstract: Objective Although dual-energy X-ray absorptiometry (DEXA) is the preferred method to estimate adiposity, body mass index (BMI) is often used as a proxy. However, the ability of BMI to measure adiposity change among youth is poorly evidenced. This study explored which metrics of BMI change have the highest correlations with different metrics of DEXA change. Methods Data were from the Quebec Adipose and Lifestyle Investigation in Youth cohort, a prospective cohort of children (8–10 years at recruitment) from Quebec, Canada (n=557). Height and weight were measured by trained nurses at baseline (2008) and follow-up (2010). Metrics of BMI change were raw (ΔBMI kg/m 2 ), adjusted for median BMI (ΔBMI percentage ) and age-sex-adjusted with the Centers for Disease Control and Prevention growth curves expressed as centiles (ΔBMI centile ) or z-scores (ΔBMI z-score ). Metrics of DEXA change were raw (total fat mass; ΔFM kg ), per cent (ΔFM percentage ), height-adjusted (fat mass index; ΔFMI) and age-sex-adjusted z-scores (ΔFM z-score ). Spearman9s rank correlations were derived. Results Correlations ranged from modest (0.60) to strong (0.86). ΔFM kg correlated most highly with ΔBMI kg/m 2 (r = 0.86), ΔFMI with ΔBMI kg/m 2 and ΔBMI percentage (r = 0.83–0.84), ΔFM z-score with ΔBMI z-score (r = 0.78), and ΔFM percentage with ΔBMI percentage (r = 0.68). Correlations with ΔBMI centile were consistently among the lowest. Conclusions In 8–10-year-old children, absolute or per cent change in BMI is a good proxy for change in fat mass or FMI, and BMI z-score change is a good proxy for FM z-score change. However change in BMI centile and change in per cent fat mass perform less well and are not recommended.

Use of paediatric early warning systems in Great Britain: has there been a change of practice in the last 7 years?

Abstract: Objective To determine the use of paediatric early warning systems (PEWS) and rapid response teams (RRTs) in paediatric units in Great Britain. Design Cross sectional survey. Setting All hospitals with inpatient paediatric services in Great Britain. Outcome measures Proportion of units using PEWS, origin of PEWS used, criterion included in PEWS, proportion of units with an RRT and membership of RRT. Results The response rate was 95% (149/157). 85% of units were using PEWS and 18% had an RRT in place. Tertiary units were more likely than district general hospital to have implemented PEWS, 90% versus 83%, and an RRT, 52% versus 10%. A large number of PEWS were in use, the majority of which were unpublished and unvalidated systems. Conclusions Despite the inconclusive evidence of effectiveness, the use of PEWS has increased since 2005. The implementation has been inconsistent with large variation in the PEWS used, the activation criteria used, availability of an RRT and the membership of the RRT. There must be a coordinated national evaluation of the implementation, impact and effectiveness of a standardised PEWS programme in the various environments where acutely sick children are managed.

Children's sleep patterns from 0 to 9 years: Australian population longitudinal study

Abstract: Objective To provide accurate population normative data documenting cross-sectional, age-specific sleep patterns in Australian children aged 0–9 years. Design and setting The first three waves of the nationally representative Longitudinal Study of Australian Children, comprising two cohorts recruited in 2004 at ages 0–1 years (n=5107) and 4–5 years (n=4983), and assessed biennially. Participants Children with analysable sleep data for at least one wave. Measures At every wave, parents prospectively completed 24-h time-use diaries for a randomly selected week or weekend day. ‘Sleeping, napping’ was one of the 26 precoded activities recorded in 15-min time intervals. Results From 0 to 9 years of age, 24-h sleep duration fell from a mean peak of 14 (SD 2.2) h at 4–6 months to 10 (SD 1.9) h at 9 years, mainly due to progressively later mean sleep onset time from 20:00 (SD 75 min) to 21:00 (SD 60 min) and declining length of day sleep from 3.0 (SD 1.7) h to 0.03 (SD 0.2) h. Number and duration of night wakings also fell. By primary school, wake and sleep onset times were markedly later on weekend days. The most striking feature of the centile charts is the huge variation at all ages in sleep duration, sleep onset time and, especially, wake time in this normal population. Conclusions Parents and professionals can use these new centile charts to judge normalcy of children’s sleep. In future research, these population parameters will now be used to empirically determine optimal child sleep patterns for child and parent outcomes like mental and physical health.

Bruising in children who are assessed for suspected physical abuse

Abstract: Objective To describe the characteristics of bruising and mode of presentation of children referred to the paediatric child protection team with suspected physical abuse (PA), and the extent to which these differ between the children where abuse was confirmed and those where it was excluded. Design Cross-sectional study. Setting and patients 519 children, <6 years, referred to two paediatric child protection teams. Main outcome measures The mode of presentation, number, anatomical distribution, size and appearance of bruises according to whether PA was confirmed or excluded. ORs with 95% CI were calculated where relevant. Results PA was confirmed in 69% of children; the rate varied from 84% when abuse was witnessed, admitted, alleged or where explanation for injury was absent or implausible, to 50% where there was a concerning history. Significantly more children with PA had bruises (89.4%) than PA-excluded (69.9%) and had significantly more sites affected (p<0.001). The odds of a PA child having bruising to: buttocks/genitalia (OR 10.9 (CI 2.6 to 46), left ear (OR 7.10 (CI 2.2 to 23.4), cheeks (Left (OR 5.20 (CI 2.5 to 10.7), Right OR 2.83 (CI 1.5 to 5.4)), neck (OR 3.77 (CI 1.3 to 10.9), trunk (back (OR 2.85 (CI 1.6 to 5.0) front (OR 4.74 (CI 2.2 to 10.2), front of thighs (OR2.48 (CI 1.4 to 4.5) or upper arms (OR 1.90 (CI 1.1 to 3.2) were significantly greater than in children with PAexcluded. Petechiae, linear or bruises with distinct pattern, bruises in clusters, additional injuries or a child known to social services for previous child abuse concerns were significantly more likely in PA. Conclusions Features in the presenting history, the extent and pattern of bruising differed between children with confirmed PA and those where abuse was excluded. These findings can provide a deeper understanding of bruising sustained from PA.

How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

Abstract: Objective To ascertain the frequency of childhood myasthenia in the UK. Specifically, we aimed to identify the detected incidence of autoimmune myasthenia and the detected prevalence of genetically confirmed congenital myasthenic syndrome (CMS) in children. Methods All children under 18 years of age on 31 December 2009 with a confirmed CMS genetic mutation were identified by the only UK laboratory undertaking CMS genetic testing. All cases with positive acetylcholine receptor (AChR) and muscle specific kinase (MuSK) receptor antibodies in the 5 years between 2003 and 2007 inclusive were identified by the testing laboratories. UK census data from 2001 were used as the denominator for analyses. Results The UK detected prevalence of genetically confirmed CMS was 9.2 per million children under 18 years of age. CMS was equally prevalent in girls and boys. CHRNE, RAPSN and DOK7 were the most commonly identified mutations. Prevalence varied across geographical regions in England (between 2.8 and 14.8 per million children). The mean incidence of antibody-positive autoimmune myasthenia was 1.5 per million children per year over the period of the study. Girls were affected more frequently than boys; this difference persisted across the age range. Antibodies were identified during the neonatal period in 17 children. Conclusions This laboratory based study shows that childhood myasthenia is very rare. This condition is treatable, and these definitive detected incidence and prevalence data can be used to help plan diagnostic and supporting services for affected children and their families, and maximise research opportunities.

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

Abstract: Background Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5–4.11 years). Aim To review the diagnostic process for DMD in boys without a family history in order to identify where delays occur and suggest areas for improvement. Design A retrospective case note review. Setting A tertiary centre for neuromuscular diseases in England. Patients All boys without family history diagnosed with DMD in the last 10 years (n=20). Outcome measures Mean age at four key steps in the diagnostic pathway of DMD. Results (1) Age at first reported symptoms of DMD was 32.5 (8–72) months (2.7 years). (2) First engagement of a healthcare professional was at 42.9 (10–90) months. (3) Creatine kinase (CK) levels were checked at 50.1 (14–91) months. (4) Diagnosis of DMD was confirmed at 51.7 (16–91) months (4.3 years). The total delay from parental concern to diagnosis was 19.2 (4–50) months (1.6 years). Conclusions Our study shows an improvement in the age of diagnosis of DMD although there continues to be a delay in presentation to a health professional and a delay in obtaining a CK test. To reduce these delays, we propose screening for DMD as part of the Child Health Surveillance Programme, in addition to lowering the threshold for CK testing in primary care by promoting a new DMD mnemonic MUSCLE. An earlier diagnosis of DMD will allow timely access to genetic counselling, standards of care and clinical trials.

Clinical and genetic aspects of hypophosphatasia in Japanese patients

Abstract: Objective We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase ( ALPL ) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme. Methods We retrospectively investigate the incidence and clinical features of 52 patients with paediatric HPP who were born between 1999 and 2010. Mutations of the ALPL gene were analysed in 31 patients. Results The annual incidence of perinatal lethal HPP (PLH) was estimated to be 2–3/1 000 000 births. The most frequent clinical type was PLH followed by prenatal benign. In addition to bone symptoms, cerebral manifestations were frequently observed including convulsion, mental retardation, deafness and short stature with growth hormone deficiency. Respiratory failure was the most significant predictor of a poor prognosis for PLH. The first and second most frequent mutations in the ALPL gene were c.1559delT and c.T979C (p.F327L), respectively. The c.1559delT homozygous mutation was lethal with respiratory failure. Patients with the p.F327L compound heterozygous mutation had the different non-lethal type with short stature and a gradual improvement in ALP level and bone mineralisation. Conclusions The most frequent clinical type was the PLH type with prognosis related to respiratory failure, biochemical/radiological changes and ALPL mutations. Cerebral manifestations frequently occurred. Genotype–phenotype correlations were associated with specific outcomes in the PLH type, whereas different clinical features were associated with the same genotype in the non-lethal type.

Neuropathic pain in children

Abstract: Neuropathic pain (NP), due to a lesion or disease of the somatosensory nervous system, is not well documented or researched in children. NP is a clinical diagnosis that can be difficult, especially in younger children. Nevertheless, it is important to recognise NP, as pain mechanisms and consequently management and prognosis differ from other types of long-term pain. NP is common in adult pain clinics but many of the underlying disease states in which it occurs are infrequently or never encountered in paediatric practice. However, NP in childhood has been reported, even in the very young in certain clinical situations. Causes of NP include traumatic injury, complex regional pain syndrome type II, cancer and chemotherapy, chronic infection, neurological and metabolic disease, and inherited sensory nerve dysfunction. The clinical and laboratory study of traumatic peripheral nerve injury has revealed important age-related differences in clinical presentation and prognosis. It is clear that mechanisms operating during development can profoundly modify the consequences of nerve damage and NP. Clinically, diagnosis, assessment and treatment of NP are based on methods and evidence derived from data in adults. Improvements in the understanding and management of NP are likely to come from developmentally appropriate improvements in the clarity and consistency of diagnosis and systematic, well-researched approaches to treatment.

Does prompt treatment of urinary tract infection in preschool children prevent renal scarring: mixed retrospective and prospective audits

Abstract: Objective To test whether active management of urinary tract infections (UTI) in young children by general practitioners can reduce kidney scarring rates. Design A comparison of two audits in Newcastle, of children aged Main outcome measures Kidney scarring rates, and their relationship with time-to-treat. Results Children with a first UTI in the 2000s compared to those in the 1990s, were referred younger, were half as likely to have a renal scar (girls OR 0.47, 95% CI 0.29 to 0.76; boys 0.35, 0.16 to 0.81), and were about 12 times more likely to have vesicoureteric reflux without scarring (girls 11.9, 4.3 to 33.5; boys 14.4, 4.3 to 47.6). In the 2000s, general practitioners treated about half the children at first consultation. Children who were treated within 3 days of their symptoms starting were one-third as likely to scar as those whose symptoms lasted longer (0.33, 0.12 to 0.72). Interpretation Most kidney defects seen in children after UTIs, are acquired scars, and in Newcastle, active management in primary care has halved this rate.

Genetics and the investigation of developmental delay/intellectual disability.

Abstract: Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.

Guidance on clinical research involving infants, children and young people: an update for researchers and research ethics committees

Abstract: The British Paediatric Association, the forerunner of the Royal College of Paediatrics and Child Health (RCPCH), first published guidance in relation to research involving children in 1980.1 Prior to this time, little clinical research involved children. The 1980 guidance initiated a sea change, stating ‘research involving children is important’, ‘should be supported and encouraged’ and ‘research which involves a child and is of no benefit to that child (non-therapeutic research) is not necessarily either unethical or illegal’. Updated guidance was issued by the RCPCH in 2000.2 Both documents have been cited extensively. There are now many sources of detailed information for researchers, and the purpose of this paper is not to duplicate this material. The principles that underpin previous guidance remain valid, but there have been changes in their interpretation, scope and application. Since the last RCPCH guidance, the National Institute for Health Research (NIHR) has transformed the UK research environment. Changes in European Union regulations have facilitated children's research, including medicines studies.3 ,4 There have been significant changes in the UK regulation and governance of research, with the involvement of a number of agencies, most recently the Health Research Authority.5 There is a greater focus on involving children and their parents more actively in the design, review and conduct of studies. The ways in which society views clinical research have also continued to evolve. The Declaration of Helsinki that sets out the ethical principles that underpin medical research involving all human subjects has had two notes of clarification and seven amendments, the most recent in 2013.6 In recognition of these changes, a working party led by the RCPCH was established with representatives from the Royal College of Nursing, Ethics and the Law Advisory Committee of the RCPCH, National Research Ethics Service, Medicines & …

Patient-reported quality of life outcomes for children with serious congenital heart defects

Abstract: Objective To compare patient-reported, health-related quality of life (QoL) for children with serious congenital heart defects (CHDs) and unaffected classmates and to investigate the demographic and clinical factors influencing QoL. Design Retrospective cohort study. Setting UK National Health Service. Patients UK-wide cohort of children with serious CHDs aged 10–14 years requiring cardiac intervention in the first year of life in one of 17 UK paediatric cardiac surgical centres operating during 1992–1995. A comparison group of classmates of similar age and sex was recruited. Main outcome measures Child self-report of health-related QoL scores (Pediatric Quality of Life Inventory, PedsQL) and parental report of schooling and social activities. Results Questionnaires were completed by 477 children with CHDs (56% boys; mean age 12.1 (SD 1.0) years) and 464 classmates (55%; 12.0 (SD 1.1) years). Children with CHDs rated QoL significantly lower than classmates (CHDs : median 78.3 (IQR 65.0–88.6); classmates: 88.0 (80.2–94.6)) and scored lower on physical (CHDs: 84.4; classmates: 93.8; difference 9.4 (7.8 to 10.9)) and psychosocial functioning subscales (CHDs: 76.7, classmates: 85.0; difference 8.3 (6.0 to 10.6)). Cardiac interventions, school absence, regular medications and non-cardiac comorbidities were independently associated with reduced QoL. Participation in sport positively influenced QoL and was associated with higher psychosocial functioning scores. Conclusions Children with serious CHDs experience lower QoL than unaffected classmates. This appears related to the burden of clinical intervention rather than underlying cardiac diagnosis. Participation in sports activities is positively associated with increased emotional well-being. Child self-report measures of QoL would be a valuable addition to clinical outcome audit in this age group.