Many thanks for this analysis of a prospectively collected multi-centre data set, and for highlighting the unmet need for the development of a structured neurodevelopmental follow up pathway for children with heart disease.
In the sub category 'Neurodevelopmental outcome' under 'Methods' (page 264), the gross motor scores for children < 33 months mentions a scale of <39 as low. Should this not be <30 (instead of <39), given that 'low' is classified as less than 2 SD from 50 (and borderline is between 30 and 39)?
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.
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...
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 despite the published evidence that combining ultrasound and scintigraphy enhances diagnostic accuracy.3,4
Finally, authors state that their study was not designed to investigate genetic aetiology. We believe that infants with suspected CH are entitled to a comprehensive and integrated assessment including venous thyroid function tests, serum thyroglobulin, scintigraphy to locate the thyroid, ultrasound imaging to determine morphology and estimate gland size, and molecular genetic analysis in selected cases. Most importantly, infants identified with GIS require critical follow up to determine whether their CH is permanent or transient 5, a management strategy which depends on thyroid imaging being performed in suspected CH. (327 words)
References
1. Worth C, Hird B, Tetlow L, Wright N, Patel L, Banerjee I. Arch Dis Child 2021;106:77–79.
2. Mansour C, Ouarezki Y, Jones JH, Green M, Stenhouse EJ, Irwin G, Hermanns P, Pohlenz J, Donaldson MDC. Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation. BJR Open 2020; 2: 20200001. doi. org/ 10. 1259/ bjro. 20200001
3. Perry RJ, Maroo S, Maclellan AC, Jones JH, Donaldson MDC. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child 2006; 91: 972-976 doi.org/10.1136/adc.2006.096776
4. A. Lucas-Herald, J. Jones, M. Attaie, S. Maroo, D. Neumann, T. Bradley, J. Pohlenz, M. Donaldson. Predictive value of ultrasound and isotope thyroid scanning, alone and in combination, in the diagnosis of infants referred with TSH elevation on newborn screening. J Pediatr 2014;99:363-384. https://doi.org/10.1016/j.jpeds.2013.11.057
5. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al. European Society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014; 99: 363–84. doi: https://doi.org/10. 1210/jc.2013-1891
We were delighted to see Lucina highlighted positive data on Community Water Fluoridation (CWF) [1] Has Luciana seen the latest American Academy of Paediatrics (AAP) guideline on the issue? [2] They state that the AAP Standard of Care is Fluoride Varnish. However we have asked them why CWF isn’t the standard of care given the only objection they give for it is that it is a “controversial and highly emotional issue”. In the same paper they make suggestions including that paediatricians should:
1) Apply fluoride varnish
2) Know how to determine the concentration of fluoride in a child’s primary drinking water and determine the need for systemic supplements.
3) Advocate for water fluoridation in their local community.
UK paediatricians cannot apply fluoride varnish. UK paediatricians can identify concentrations of fluoride in the local drinking water using www.onepartpermillion.co.uk. They can prescribe fluoride supplements where there is need.
Until CWF is implemented does Lucina agree that these measures need promoting amongst UK Paediatricians?
References
1. Highlights from the literature Archives of Disease in Childhood 2020;105:1236.
2. Clark MB, Slayton RL for American Academy of Pediatrics Section on Oral Health. Pediatrics 146 (6):e2020034637
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 a 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 h...
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 a 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 have similar liver disease (5). Whatever genetic or epigenetic factors caused liver disease to manifest in the PiZ proband may be operative in the younger sibling. If the same is true of WD, then the risk of the newborn sibling developing liver disease is high. This conclusion will be difficult to prove because such infants should be monitored closely and treated early with zinc.
1. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson’s Disease: An Update. Hepatology. 2020 Feb 1;71(2):722–32.
2. Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013 May;136(5):1476–87.
3. Jang JH, Lee T, Bang S, Kim YE, Cho EH. Carrier frequency of Wilson’s disease in the Korean population: A DNA-based approach. J Hum Genet. 2017 Sep 1;62(9):815–8.
4. Wallace DF, Dooley JS. ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. Hum Genet. 2020 Aug 1;139(8):1065–75.
5. Psacharopoulos HT, Mowat AP, Cook PJL, Carlile PA, Portmann B, Rodeck CH. Outcome of liver disease associated with αl antitrypsin deficiency (PiZ): Implications for genetic counselling and antenatal diagnosis. Arch Dis Child. 1983;58(11):882–7.
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...
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 of a rare small vessel vasculitis in the neonatal period. Arch Dis Child 2020: Epub ahead of print. doi:10.1136/archdischild-2020-319739.
2. Cunningham BB, Caro WA, Eramo LR. Neonatal acute hemorrhagic edema of childhood: case report and review of the English-language literature. Pediatr Dermatol 1996;13:39-44.
3. Ballona R. Pápulas purpúricas en récien nacido. Dermatol Peru 2002;12:231-3.
4. Checa Rodríguez R, Carabaño Aguado I, Álvarez Fernández B. Edema agudo hemorrágico en un neonato. Pediatr Aten Primaria 2015;17:151-3.
5. Ostini A, Ramelli GP, Mainetti C, Bianchetti MG, Ferrarini A. Recurrent Finkelstein-Seidlmayer disease in four first-degree relatives. Acta Derm Venereol 2015;95:622-3.
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...
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 have similar liver disease (5). Whatever genetic or epigenetic factors caused liver disease to manifest in the PiZ proband may be operative in the younger sibling. If the same is true of WD, then the risk of the newborn sibling developing liver disease is high. This conclusion will be difficult to prove because such infants should be monitored closely and treated early with zinc.
1. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson’s Disease: An Update. Hepatology. 2020 Feb 1;71(2):722–32.
2. Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013 May;136(5):1476–87.
3. Jang JH, Lee T, Bang S, Kim YE, Cho EH. Carrier frequency of Wilson’s disease in the Korean population: A DNA-based approach. J Hum Genet. 2017 Sep 1;62(9):815–8.
4. Wallace DF, Dooley JS. ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. Hum Genet. 2020 Aug 1;139(8):1065–75.
5. Psacharopoulos HT, Mowat AP, Cook PJL, Carlile PA, Portmann B, Rodeck CH. Outcome of liver disease associated with αl antitrypsin deficiency (PiZ): Implications for genetic counselling and antenatal diagnosis. Arch Dis Child. 1983;58(11):882–7.
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...
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 children with visually apparent respiratory modulation of the pleth signal were more likely to require intravenous therapy and high dependency care, and also had longer hospital stay5. We also observed that respiratory modulation of pleth was most evident during regular respiration periods, which could suggest an association with sleep state.
Respiratory modulation of the pleth signal is promising in assessment of acute wheezing illness in children, but its measurement is influenced by physiological and technical factors; these need further exploration before being adopted as a clinical tool.
1. Krishnan SG, Wong HC, Ganapathy S, Ong GY. Oximetry-detected pulsus paradoxus predicts for severity in paediatric asthma. Arch Dis Child. 2020 Jun;105(6):533-538. doi: 10.1136/archdischild-2019-318043.
2. Arnold DH, Jenkins CA, Hartert TV. Noninvasive assessment of asthma severity using pulse oximeter plethysmograph estimate of pulsus paradoxus physiology. BMC Pulm Med. 2010; 29:10:17. doi: 10.1186/1471-2466-10-17.
3. Arnold DH, Wang L, Hartert TV. Pulse Oximeter Plethysmograph Estimate of Pulsus Paradoxus as a Measure of Acute Asthma Exacerbation Severity and Response to Treatment. Acad Emerg Med. 2016; 23:315-322. doi: 10.1111/acem.12886.
4. Uong A, Brandwein A, Crilly C, York T, Avarello J, Gangadharan S. Pleth Variability Index to Assess Course of Illness in Children with Asthma. J Emerg Med. 2018; 55:179-184. doi: 10.1016/j.jemermed.2018.04.058.
5. Wertheim D, Anton O, Olden C and Seddon P. Respiratory modulation of the pulse oximeter plethysmogram amplitude as a marker of severity in acutely wheezy young children. European Respiratory Journal 2020; 56: Suppl. 64, 1206. DOI: 10.1183/13993003.congress-2020.1206
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...
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 idea that a baby who is wakeful at night is somehow abnormal.
The concept that babies should self-settle away from caregivers and sleep through the night, is not the biological norm.2 These ideas, although now mainstream, ignore the fundamental role of the mother-baby dyad and the need for regular physical contact on neonatal development. It is entirely normal for babies to wake overnight, either to feed or for comfort.3
To better support the emotional challenges of early parenthood, the medical profession must appreciate the normal spectrum of neonatal and infant sleep patterns.4 By studying and understanding the social confounders around infant sleep, we can prevent the propagation of potentially unnatural and harmful ideas related to infant behaviour and development.
References
1. Cook F, Conway LJ, Giallo R, et al, Infant sleep and child mental health: a longitudinal investigation. Archives of Disease in Childhood 2020;105:655-660.
2. Bartick, M, Tomori, C & Ball, HL. Babies in boxes and the missing links on safe sleep: Human evolution and cultural revolution. Maternal & Child Nutrition 2017; 14: e12544 doi: 10.1111/mcn.12544.
3. Figueiredo B, Dias CC, Pinto TM, Field T. Exclusive breastfeeding at three months and infant sleep-wake behaviors at two weeks, three and six months. Infant Behav Dev. 2017;49:62-69. doi:10.1016/j.infbeh.2017.06.006
4. Marinelli, K. A., Ball, H. L., McKenna, J. J., & Blair, P. S. (2019). An Integrated Analysis of Maternal-Infant Sleep, Breastfeeding, and Sudden Infant Death Syndrome Research Supporting a Balanced Discourse. Journal of Human Lactation, 35(3), 510–520. https://doi.org/10.1177/0890334419851797
Re Functional Abdominal Pain: what clinicians need to know
In their article on the above subject, Andrews et al rightly emphasise that the majority of cases of recurrent abdominal pain in childhood are “functional” ie not associated with structural organic disease.
In placing this large number of potentially differing problems under one large umbrella I feel the authors are ignoring important subdivisions, each requiring a different approach. In particular, they only mention abdominal migraine twice in the whole article, and then only in passing.
The work of the late George Russell put abdominal migraine firmly on the map of UK paediatrics but it seems his message has been lost (1). With a prevalence of 4.1% of the population it seems likely that abdominal migraine is the commonest cause of children presenting with recurrent abdominal pain.
Rather than being a diagnosis of exclusion, abdominal migraine can be regarded as a positive clinical diagnosis based on a clear history. In typical cases the pain is clearly episodic and can come on in any situation. The pain is diffuse and central, and there is associated nausea and even vomiting, often associated with facial pallor and dark rings under the eyes. There is often a past history of travel sickness and usually a positive family history of migraine.
Parents seem to find being given a positive label and an explanation that makes sense to be maximally reassuring. Reassurance and explanation alo...
Re Functional Abdominal Pain: what clinicians need to know
In their article on the above subject, Andrews et al rightly emphasise that the majority of cases of recurrent abdominal pain in childhood are “functional” ie not associated with structural organic disease.
In placing this large number of potentially differing problems under one large umbrella I feel the authors are ignoring important subdivisions, each requiring a different approach. In particular, they only mention abdominal migraine twice in the whole article, and then only in passing.
The work of the late George Russell put abdominal migraine firmly on the map of UK paediatrics but it seems his message has been lost (1). With a prevalence of 4.1% of the population it seems likely that abdominal migraine is the commonest cause of children presenting with recurrent abdominal pain.
Rather than being a diagnosis of exclusion, abdominal migraine can be regarded as a positive clinical diagnosis based on a clear history. In typical cases the pain is clearly episodic and can come on in any situation. The pain is diffuse and central, and there is associated nausea and even vomiting, often associated with facial pallor and dark rings under the eyes. There is often a past history of travel sickness and usually a positive family history of migraine.
Parents seem to find being given a positive label and an explanation that makes sense to be maximally reassuring. Reassurance and explanation alone can result in clinical improvement because of the reduction is stress associated with worry about more serious conditions.
Management is similar to that of cranial migraine, consisting of reduction of stress, avoidance of trigger factors especially dietary ones, and prophylactic drug treatment if necessary (2).
References:
1) Abu-Arafeh I, Russell G “Prevalence and clinical features of abdominal migraine compared with those of migraine headache” Arch Dis Child, 1995;72(5):413-417
2) Symon DN, Russell G “Double blind placebo-controlled trial of Pizotifen syrup in the prophylaxis of abdominal migraine” Arch Dis Child, 1995; 72(1):44-50
Dear Authors
Many thanks for this analysis of a prospectively collected multi-centre data set, and for highlighting the unmet need for the development of a structured neurodevelopmental follow up pathway for children with heart disease.
In the sub category 'Neurodevelopmental outcome' under 'Methods' (page 264), the gross motor scores for children < 33 months mentions a scale of <39 as low. Should this not be <30 (instead of <39), given that 'low' is classified as less than 2 SD from 50 (and borderline is between 30 and 39)?
Many thanks for clarifying.
Kind regards.
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.
Dear Editor,
Show MoreWe 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...
Dear Editor
We were delighted to see Lucina highlighted positive data on Community Water Fluoridation (CWF) [1] Has Luciana seen the latest American Academy of Paediatrics (AAP) guideline on the issue? [2] They state that the AAP Standard of Care is Fluoride Varnish. However we have asked them why CWF isn’t the standard of care given the only objection they give for it is that it is a “controversial and highly emotional issue”. In the same paper they make suggestions including that paediatricians should:
1) Apply fluoride varnish
2) Know how to determine the concentration of fluoride in a child’s primary drinking water and determine the need for systemic supplements.
3) Advocate for water fluoridation in their local community.
UK paediatricians cannot apply fluoride varnish. UK paediatricians can identify concentrations of fluoride in the local drinking water using www.onepartpermillion.co.uk. They can prescribe fluoride supplements where there is need.
Until CWF is implemented does Lucina agree that these measures need promoting amongst UK Paediatricians?
References
1. Highlights from the literature Archives of Disease in Childhood 2020;105:1236.
2. Clark MB, Slayton RL for American Academy of Pediatrics Section on Oral Health. Pediatrics 146 (6):e2020034637
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.
Show MoreThe widely quoted disease prevalence of 1:30,000 from a 1984 paper is corroborated by a 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 h...
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
Show More1. O’Connor C, Bux D, O’Connell M. Acute haemorrhagic oedema of infancy: first report...
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.
Show MoreThe 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...
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...
Show MoreDear 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...
Show MoreRe Functional Abdominal Pain: what clinicians need to know
In their article on the above subject, Andrews et al rightly emphasise that the majority of cases of recurrent abdominal pain in childhood are “functional” ie not associated with structural organic disease.
Show MoreIn placing this large number of potentially differing problems under one large umbrella I feel the authors are ignoring important subdivisions, each requiring a different approach. In particular, they only mention abdominal migraine twice in the whole article, and then only in passing.
The work of the late George Russell put abdominal migraine firmly on the map of UK paediatrics but it seems his message has been lost (1). With a prevalence of 4.1% of the population it seems likely that abdominal migraine is the commonest cause of children presenting with recurrent abdominal pain.
Rather than being a diagnosis of exclusion, abdominal migraine can be regarded as a positive clinical diagnosis based on a clear history. In typical cases the pain is clearly episodic and can come on in any situation. The pain is diffuse and central, and there is associated nausea and even vomiting, often associated with facial pallor and dark rings under the eyes. There is often a past history of travel sickness and usually a positive family history of migraine.
Parents seem to find being given a positive label and an explanation that makes sense to be maximally reassuring. Reassurance and explanation alo...
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