eLetters

92 e-Letters

published between 2018 and 2021

  • Please share your orientation guide

    Thank you for sharing your experience. It echoes our current internal debate about parental participation. It would be so useful if you can share you one-page orientation leaflet about CEC, its purpose, composition and limitations as a supplementary attachment to this valuable letter.

  • The role and limitations of thyroid scintigraphy in identifying subtypes of congenital hypothyroidism

    Dear Editor,
    We read with interest the report by Worth and colleagues on thyroid scintigraphy in infants with congenital hypothyroidism (CH). While their study is valuable in confirming the role of scintigraphy in locating the gland, we are concerned at the assertion that a gland in situ (GIS) constitutes a “subtype” of CH, and their placing it alongside defined entities of permanent CH such as athyreosis and ectopia. GIS is a purely descriptive term, encompassing both permanent and transient CH and comprising hypoplasia (eg TSH-receptor and PAX8 gene mutations), thyroid enlargement (classical dyshormonogenesis, iodine insufficiency) and normal-sized thyroid (multiple aetiologies). Infants with GIS include preterm and sick babies who are likely to have transient CH. It is not clear how many of the 20/37 GIS infants with transient CH in Worth's study were preterm/sick or had Down syndrome, and their prevalence figures of 28% for ectopia and 26% for “dysplasia” would be higher if expressed in the context of permanent rather than transient CH.
    Worth et al have used scintigraphy to define GIS as small, normal and enlarged but do not state the criteria or detail their methodology. While scintigraphy reliably identifies thyroid ectopia, demonstrates intensity of isotope uptake and conveys an impression of gland size, ultrasound is superior in evaluation of size, vascularity (using colour Doppler) and detailed morphology2. Yet this modality is not discussed despi...

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  • Acute haemorrhagic oedema of infancy in neonates

    Acute haemorrhagic oedema of infancy, also termed cockade purpura with edema or Finkelstein-Seidlmayer disease, is a rather uncommon small-vessel leukocytoclastic vasculitis. It characteristically affects children 4 weeks to 23 months of age, is skin-limited, spontaneously recovers within 3 weeks, and does not recur. O'Connor C et al [1]. recently documented the distinctive features of acute haemorrhagic oedema in a 23-day-old male infant with fever, rhinorrhoea, conjunctivitis and cough. The authors concluded that acute haemorrhagic oedema has never previously been reported in neonates, with the exception of a female newborn infant noted to have this vasculitis at birth [2].
    Stimulated by the fascinating report by O'Connor C et al. [1], we analyzed the data contained in the Acute Hemorrhagic Edema BIbliographic Database AHEBID, which includes all articles on acute haemorrhagic oedema. In the mentioned database, we found 6 further cases (4 males and 2 female patient) of this vasculitis in subjects less than 4 weeks of age, including 4 familial cases [3-5].
    It is therefore concluded that acute haemorrhagic oedema has been so far documented in a total of 8 patients (5 males and 3 female patient) less less than 4 weeks of age. In this age group, this vasculitis is uncommon but not exceptional and may affect 2 or more members of the same family.

    References
    1. O’Connor C, Bux D, O’Connell M. Acute haemorrhagic oedema of infancy: first report...

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  • The newborn with 2 WD mutations

    The disparity between estimates of the clinical and genetic prevalence of Wilson’s disease (WD) may be due to under-diagnosis or reduced penetrance of ATP7B mutations.
    The widely quoted disease prevalence of 1:30,000 from a 1984 paper is corroborated by 4 recent studies giving estimates from 1:29,000 to 1:40,000 (1). By contrast the calculated frequency amongst 1000 UK control subjects of individuals predicted to carry two mutant pathogenic ATP7B alleles was 1:7026(2). Amongst 14,835 Korean neonatal dried blood spots it was 1:7561 (3).
    Assuming that under-diagnosis is not responsible these data suggest that penetrance in WD is approximately 20%. Interrogating the Genome Aggregation Database (gnomAD) revealed 231 WD-associated ATP7B variants giving an initial estimated population prevalence of around 1 in 2400. Using standardised genetic variant effect prediction algorithms WD-associated ATP7B variants with predicted low penetrance were excluded giving a revised disease estimate of around 1 in 20,000 and a penetrance of 12% (4).
    WD thus resembles alpha-1 antitrypsin deficiency (AAT); only ~10% PiZ individuals develop liver disease. So, what is the prognosis of the newborn found to have the same genotype as a sibling proband with AAT or WD and liver disease - the same risk as the general population or higher? In AAT, if the first PiZ child of PiZ heterozygote parents had unresolved liver disease, there was a 78% chance that a second PiZ child will hav...

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  • Oximetry-detected pulsus paradoxus predicts for severity in paediatric asthma

    We read with interest the paper by Krishnan et al.1 and agree that "pulsus paradoxus" (PP) of the oximetry plethysmogram (pleth) may be useful in assessing severity of acute asthma exacerbations in children. The visual assessment they propose is one of a number of approaches which have been used, with variable success in predicting clinical outcomes2,3,4.

    Rather than pulse amplitude variation associated with respiration, figure 2 in the paper1 shows predominately baseline undulation, at a rate of about 1/5 to 1/6 of pulse rate; no time base nor simultaneous respiratory waveform is included. Can the authors thus be sure that the variation is due to respiration, and if it is, could the baseline variations in fact be associated with respiratory-related changes in peripheral blood volume? As the visual pleth display is dependent on processing by the pulse oximeter, it would be helpful to know more about the oximeter used.

    We have monitored respiration using Respiratory Inductance Plethysmography (RIP) bands simultaneously with oximetry pleth in children with acute wheezing illness using a SOMNOscreen plus recorder (SOMNOmedics GmbH, Germany) with Nonin oximeter module (Nonin Medical Inc., USA). We developed software in MATLAB (The MathWorks Inc., USA) for quantifying pleth pulse amplitude to assess pulsus paradoxus analogous variation. Consistent with Krishnan et al., we found that chil...

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  • Normal infant sleep behaviours

    Dear Editor,

    We note with interest the conclusions made in the longitudinal cohort review published by Cook et al1 linking frequent night wakings in infancy with emotional disorders in later childhood. Our analysis of the paper questions whether the medical profession is overmedicalising normal sleep behaviours without fully identifying what is within normal limits.

    Multiple potential confounders were not adjusted for in the analysis, including but not limited to: method of feeding, neonatal and infant medical history, sleep environment (co-sleeping and bedsharing) or the proportion of parents implementing sleep training methods. Additionally, statistical significance for these conclusions was reached by comparing the babies labelled with with ‘persistent severe sleep problems’ (19.4%) with those classed as ‘settled sleepers’ (23.7%), rather than the 56.0% of babies labelled with ‘moderate sleep problems’. Over half of the cohort were repeatedly waking at night, confirming that this is a common feature of normal infant behaviour. This paper provides a much-needed opportunity to discuss our social expectations of infant sleeping patterns and the increasing risk of overmedicalising normal sleep behaviours.

    Modern western culture necessitates that adults sleep at night in order to function at work during the day. Societal changes over the last century have normalised the idea that babies too should sleep through the night, and this has slipped into the id...

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  • Functional Abdominal Pain

    I read with interest the review on functional abdominal pain and link to anxiety. However, there is no mention of the potential aetiology for anxiety.
    In our school age paediatric neurodevelopmental clinic , children and young people with diagnoses of Autism Spectrum Disorder often present with escalating levels of anxiety in relation to school attendance that is reflected in a range of physical symptoms that may include abdominal pain, headaches and sleep disturbance . Indeed ,they have often been under the care of the acute paediatric service and prescribed a variety of medications. School attendance has often been affected and/or there have been concerns about learning and behaviour leading to referral to the Neurodevelopmental /Community Paediatric clinic
    Once reasonable adjustments and environmental modifications have been implemented to support the individual , anxiety diminishes and physical symptoms improve. This has been most noticeable during the recent lockdown with many young people with ASD flourishing without the incapacitating anxiety that is associated with the busy, complex, social environment of school.
    A detailed psycho - social and neurodevelopmental history and consideration of the possibility of Autism Spectrum Disorder is likely to be helpful for this group of children and young people.

  • Comparisons of febrile infant prediction rules

    Prediction rules to identify young febrile infants with serious bacterial infections (SBI) have been developed by investigators globally. Comparisons of these rules should be conducted by independent parties to avoid conflicts of interest. Two newer prediction rules use procalcitonin (PCT) as an important variable: one rule,[1] created by the authors of the Velasco[2] paper, and the PECARN Febrile Infant Rule[3] created by the authors of this letter. There are important methodological issues which must be considered when evaluating Velasco’s validation of the PECARN study. 1) The Velasco study was a retrospective analysis of a registry at one hospital in Spain, while the PECARN study was prospectively conducted at 20 centers in the United States and analyzed by an independent data center (mitigating investigator bias). 2) The rate of SBI in the Velasco study was 20.5%, much higher than the 9.3% reported by the PECARN study[3] and other investigators.[4] This suggests a different patient population or SBI epidemiology than ours, and/or enrollment bias. 3) Although the PECARN rule (using the urinalysis, absolute neutrophil count [ANC] and PCT) was derived on febrile infants 0-60 days-old, we recommend implementation only on 29-60 day-old infants, as suggested in our article.[3] In the supplement to our article, the PECARN rule using rounded cutoffs (ANC of 4000 cells/mm3 and PCT of 0.5 ng/mL) for simplicity, safety and to decrease the risk of overfitting, performed with simi...

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  • Returning paediatrics to child centred care

    Scott-Jupp et al. recent paper (Effects of consultant residence out-of-hours on acute paediatric admissions1) appeared relevant to myself as a junior doctor at the end of my training. I am interested to know whether there was learning from the resident consultant around discharge behaviour to better understand the differences?

    There were approximately 40% of admissions that stayed less than 12 hours and this group were more likely to be discharged when a consultant was resident. There was no significant difference in discharge rates in children who stayed more than 12 hours1.

    Should the less ill children be attending acute services anyway? Would a service consisting of resident consultants feed into propping up the acute pathway for less ill children?

    A prospective observational study found up to 42.2% of ED presentations over a 14 day period were judged to have been totally avoidable if the family had had better health education2. Studies have previously looked at the appropriateness of paediatric OPD new referrals and suggest that at least 39% of them could be managed by primary care3.

    I wonder whether the expansion of paediatric consultant posts due to increased ED attendance have unwittingly made secondary care reluctant to challenge the status quo of paediatric care delivery despite clear evidence that hospital is not always appropriate? If paediatric ED attendance starts to go down, would the current system become redundant? Other models...

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  • Necrosis of infantile haemangioma is more likely related to natural history rather than to propranolol therapy

    To the editor
    We appreciated the Images in paediatrics ‘Necrosis of infantile haemangioma with propranolol therapy’ by Grech and colleagues1. Nevertheless, we take exception to the Authors’ statement that necrosis is due to propranolol induced-involution for several reasons: first of all, the infant was not receiving a full-dose medication (1.5 mg/kg/day) when propranolol should be given at minimum 2 mg/kg/day. Furthermore, the milestone study by Léauté-Labrèz et al showed that a daily regimen of 3 mg/kg is safe and effective in reducing haemangiomas in a cohort of 456 infants2. We do believe that considering the low dose and the proliferative phase the infant was in3, necrosis was most likely due to natural evolution of the haemangioma than drug-induced involution. The authors do not give precise measurements of the scalp lesion before and during treatment, so it is not clear how much the lesion diminished in size. In view of previous considerations, it is difficult to rule out that the lesion might just have followed its natural course. As a matter of fact, both prematurity and female gender are well known risk factors associated with ulceration4.As the authors properly underline, propranolol therapy is the treatment of choice for infantile haemangioma (IH) and adverse effects as hypoglycemia, hypotension and bradycardia are widely known. Ulceration is the most common complication of IH and so that it could be even considered an indication to continue rather than...

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