We are very pleased to see the comment from Dr Burke regarding the
ethical and social considerations of Next Generation Sequencing, in
response to our review.
As we noted in our original article, the field is very complex, with
a major issue being the interpretation of sequencing data, such that
without follow up investigations many variants cannot be confidently
assigned as either beni...
We are very pleased to see the comment from Dr Burke regarding the
ethical and social considerations of Next Generation Sequencing, in
response to our review.
As we noted in our original article, the field is very complex, with
a major issue being the interpretation of sequencing data, such that
without follow up investigations many variants cannot be confidently
assigned as either benign or pathogenic. Given that this is the case,
reporting on such variants is premature.
It is also true that further research is urgently needed to determine
the potential benefits or harm of wide scale sequencing in children.
However, until we have clearer information on what variants can be
considered pathogenic, in addition to clear irrefutable evidence that
genetic testing in children is beneficial and not harmful, we would
continue to recommend that children be entitled to an open future and
allowed to choose testing for themselves at the appropriate age.
Dear Editor-in-chief,
in reaction to Charlotte M Wrights editorial "Failure to wean" (2013, 98:
838-840) we would like to add some data on the option of rapid tube
weaning to enhance the discussion between rapid versus slow weaning
programs and to advocate a flexible and individually tailored approach.
As Mrs Wright comments saying that no program suits every child we would
like to stress that especially medically fragil...
Dear Editor-in-chief,
in reaction to Charlotte M Wrights editorial "Failure to wean" (2013, 98:
838-840) we would like to add some data on the option of rapid tube
weaning to enhance the discussion between rapid versus slow weaning
programs and to advocate a flexible and individually tailored approach.
As Mrs Wright comments saying that no program suits every child we would
like to stress that especially medically fragile patients will need an
individually tailored approach. The more rapid the reduction of tube feeds
is performed, it is more likely that hunger occurs, whereas the child
needs to be evaluated closely during this process.
Our data (1) show that 92% of telemedical vs. 82% onsite treated of
344 children could be weaned completely using a rapid approach ("Graz
model of tube weaning") (2,3). Our data support the option of rapid
reduction of caloric intake. Currently, we are evaluating our long-term
data: relapse rate is <1% (children who had to go back to full tube
feeds - TF), <5% partial TF as a result to unforeseeable medical
events.
As we had 36 patients since 2010 living in the UK, this may show that our
online services (www.notube.com) for counselling are seen as helpful. In
various conferences and lectures throughout GB we taught our approach. We
advocate thorough assessment, team counselling, contact with local
centres. Experience and decidedness give hope for parents and children to
be able to learn to eat.
We read with great interest your work on the cost effectiveness of
clinical decision rules for minor head injury. As you point out, increased
CT scanning reduces the risk of missing patients that require neurosurgery
at the expense of increased radiation risk. This latter point has been
recently raised in the literature [1,2] and prompted us to audit our
practice of the appropriateness of CT scanning c...
We read with great interest your work on the cost effectiveness of
clinical decision rules for minor head injury. As you point out, increased
CT scanning reduces the risk of missing patients that require neurosurgery
at the expense of increased radiation risk. This latter point has been
recently raised in the literature [1,2] and prompted us to audit our
practice of the appropriateness of CT scanning children with
minor/borderline head injury.
We collected data spanning a 3 month period (July 1st - Sept 31st
2013). 78 CT head scans were requested from our A&E for paediatric
patients. 37 requests were for minor head injury. These were audited
against the 2007 NICE guidelines [3]. 4 scan requests were not in
accordance with guidelines but 2 of these yielded positive intracranial
findings. With 89% of scan requests in accordance with NICE standards, 16%
revealed a skull fracture and/or intracranial bleed.
The 2003 NICE head injury guidelines for children were extrapolated
from adult data and subsequently revised in 2007 to integrate the CHALICE
rule (Children's Head injury Algorithm for the prediction of Important
Clinical Event) into a specific paediatric guideline [4]. The CHALICE rule
was derived from a large cohort of children and is yet to be validated
[5].
Furthermore, in their 2014 provisional update, NICE specifically
identify a need for comparison of clinical decision rules such as CHALICE,
CATCH (Canadian Assessment of Tomography for Childhood Head Injury) and
PECARN (Paediatric Emergency Care Applied Research Network) with the
proposed 2014 NICE guidelines.
In conclusion, our data show appropriately requested paediatric head
CT scans as per NICE guidelines. We agree that clinical decision rules
once validated and compared with the upcoming guidelines may have a useful
role in the reducing the number of children missed who could be considered
for neurosurgical intervention.
Yours Sincerely,
Dr Ravindran Visagan (FY2 in Paediatrics)
Dr Ravi Lehal (Consultant Paediatrician)
REFERENCES
1. Pearce MS, Salotti JA, Little MP, McHugh K, Lee C, Kim KP, Howe NL,
Ronckers CM, Rajaraman P, Sir Craft AW, Parker L, Berrington de Gonz?lez
A. Radiation exposure from CT scans in childhood and subsequent risk of
leukaemia and brain tumours: a retrospective cohort study. Lancet. 2012
Aug 4;380(9840):499-505. doi: 10.1016/S0140-6736(12)60815-0. Epub 2012 Jun
7.
2. Mercuri & Einstein. A small but real risk of cancer in
children from undergoing CT. Evid Based Med. 2013 Aug;18(4):158-9. doi:
10.1136/eb-2012-101037.
3. NICE (2007). Head injury: NICE guideline (2007).
4. Harty E, Bellis F. CHALICE head injury rule: an implementation
study. Emerg Med J. 2010 Oct;27(10):750-2. doi: 10.1136/emj.2009.077644.
The new paradigm in which children undergo genetic investigations
acknowledges that genetic information belongs to families, as well as
individuals. Recent ACMG guidance [1] requires clinical laboratories in
the USA to 'screen' genomes for 56 highly penetrant mutations with 24
disease associations when undertaking next generation sequencing (NGS),
regardless of the indication, the age of the patient, and their
preferenc...
The new paradigm in which children undergo genetic investigations
acknowledges that genetic information belongs to families, as well as
individuals. Recent ACMG guidance [1] requires clinical laboratories in
the USA to 'screen' genomes for 56 highly penetrant mutations with 24
disease associations when undertaking next generation sequencing (NGS),
regardless of the indication, the age of the patient, and their
preferences with regards to receiving the results that are generated. As
such, results are less 'incidental' and represent a deliberate, systematic
effort to identify genetic changes associated with particular diseases
when NGS is undertaken in the clinical setting.
In the paediatric setting, this practice is at odds with well-
established norms and professional consensus that testing for highly
penetrant, adult-onset diseases should be avoided until adulthood [2].
Incidental findings in children also challenge conventional notions of
respect for future autonomy; respecting the rights of children to make
decisions about testing at an appropriate age and minimizing the risk of
psychological harm when status is prematurely revealed [3]. The enduring
relevance of genetic results across the life-course - the results of which
may not be welcome to individuals on reaching adulthood - challenge the
right of children to an open future [4]. Yet despite fears about the
additional risks of genetic testing in minors, there is little evidence to
support notions of actual, or potential harm. Potentially, patients may
see genetic findings as valuable adjuvant information of potential
clinical utility, a welcome addition to modern medical evaluation and
personalized medicine in practice.
Clearly the ultimate aim is to maximise the potential benefit of
genomic data for children and families. With regards to next-generation
sequencing, consensus is urgently needed on which diseases constitute
reasonable targets for screening, in addition to timely situated,
empirical work on the ethical, social and legal aspects of next-generation
sequencing in paediatric practice.
References
[1] Green RC et al. American College of Genetics and Genomics
recommendations for the reporting of incidental findings in clinical exome
and genome sequencing. Genet Med 15(7):565-74
[2] Clarke A. Genetic testing of Children. Working Party of the
Clinical Genetics Society UK. J Med Genet. 1994 31(10): 785-797
[3] Malpas JP. Predictive genetic testing of children for adult-onset
diseases and psychological harm. J Med Ethics 2008; 34: 275- 278
[4] Feinberg J. The child's right to an open future. In Aiken, W,
Lafollette, H, editors. Whose child? Children's rights, parental autonomy,
and state power. New Jersey: Littlefield, Adams and Co, pp124-153.
Conflict of Interest:
I am currently a Wellcome Trust Research Fellow looking at the implications of incidental findings and unclassified variants in paediatric genetic medicine.
I read with great interest the important and elegant article written
by Sullivan et al. Dealing with the death of children is always
distressing, emotional and complex. It naturally leads to many difficult
questions about what and when to say and do. There are no simple answers.
However, one of the few certainties is that whatever decisions are
taken, the parents will have to live, and hopefully cope, with what...
I read with great interest the important and elegant article written
by Sullivan et al. Dealing with the death of children is always
distressing, emotional and complex. It naturally leads to many difficult
questions about what and when to say and do. There are no simple answers.
However, one of the few certainties is that whatever decisions are
taken, the parents will have to live, and hopefully cope, with what
happened to their child for the rest of their lives. Parent empowerment is
therefore of central importance.
As wisely emphasised by the authors, this means the doctor's role in
informing and supporting the parents continues after an end-of-life
decision has been made. This does not change after the child has deceased.
I have recently described the experience of being a parent faced with the
unforeseen death of a young child 1. My wife and I discovered that keeping
the decaying body in our arms for a few hours was an important and helpful
part of the mourning process. I strongly encourage doctors in this sad
situation to avoid the temptation to be prompt in taking dead children
away from their parents with the well-intentioned but misguided aim of
reducing relatives' pain.
1. Smeesters PR. Don't steal the body. Lancet 2013;382(9906):1704.
I read with interest the article by Murray et al on prevention of
respiratory syncytial virus disease in infants and children. However, the
indications for use of passive immunoprophylaxis with Palivizumab as shown
in Box 1 and referenced to in the statement 'Current JCVI guidance states
that palivizumab is only cost-effective..... at most risk of severe
disease (see box 1)17' are incorrect and represent a mixture of the...
I read with interest the article by Murray et al on prevention of
respiratory syncytial virus disease in infants and children. However, the
indications for use of passive immunoprophylaxis with Palivizumab as shown
in Box 1 and referenced to in the statement 'Current JCVI guidance states
that palivizumab is only cost-effective..... at most risk of severe
disease (see box 1)17' are incorrect and represent a mixture of the
indications from the Summary of Product Characteristics and a few of the
JCVI recommendations for those with SCID and long-term ventilation.
The most up to date JCVI guidance for the use of Palivizumab can be found
at
http://webarchive.nationalarchives.gov.uk/20130107105354/https://www.wp.dh.gov.uk/immunisation/files/2012/07/chap
-27a-dh_130131.pdf.
Dr. Bauchner and many other professionals inside and around pediatric
emergency medicine are asking: Why doesn?t staff members like parents
present in resuscitation?
Let us ask two other questions - one to the man on the street: What
would be worst: to meet your child dead after resuscitation or the
alternative: to meet your dead child dead AND to experience your dying
child under ongoing resuscitation?
The othe...
Dr. Bauchner and many other professionals inside and around pediatric
emergency medicine are asking: Why doesn?t staff members like parents
present in resuscitation?
Let us ask two other questions - one to the man on the street: What
would be worst: to meet your child dead after resuscitation or the
alternative: to meet your dead child dead AND to experience your dying
child under ongoing resuscitation?
The other question is directed to the staff:
What is more traumatic for you: unsuccessful resuscitation of a child or
unsuccessful resuscitation with the parents present?
I am sure we would get a wide spectrum of different opinions. But
these answers can give us some valuable viewpoints and two new dimensions
in addition to the academic results of traditional research.
Dr Kemp and her colleagues have done us a great service over the
years in collating and analysing the evidence base related to
safeguarding.
I wonder however how they themselves translate their work into
practice. Consistently they report the likelihood that an abused child
will have such and such an injury. But in practice we must travel the
other direction. We must ask: in a child with such and such an inju...
Dr Kemp and her colleagues have done us a great service over the
years in collating and analysing the evidence base related to
safeguarding.
I wonder however how they themselves translate their work into
practice. Consistently they report the likelihood that an abused child
will have such and such an injury. But in practice we must travel the
other direction. We must ask: in a child with such and such an injury what
is the likelihood of abuse?
If most children are not abused and yet most have some injuries at
least occasionally, we must agree that the number of injuries caused
accidentally probably outnumbers those caused by abuse. If so injuries
commonly seen in abused children might be outnumbered by those caused
accidentally just because they occur in the numerically larger group.
In simple statistical terms the data presented does not allow one to
convert the pre test probability of abuse to a post test probability of
abuse. Without this, the data is interesting but of limited value.
We thank Professor Hall for drawing our attention to this issue. At
present there are no relevant published recommendations in the UK but we
would agree that both vaccination against VZV and influenza should be
offered and recommended to children receiving long term aspirin.
Maria A Quigley1, Claire Carson1, Julia Morinis1,2,3.
1 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK
2 Department of Paediatric Medicine, Hospital for Sick Children, Toronto,
Ontario, Canada
3 Centre for Research on Inner City Health, The Keenan Research Centre, Li
Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario,
Canada
Maria A Quigley1, Claire Carson1, Julia Morinis1,2,3.
1 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK
2 Department of Paediatric Medicine, Hospital for Sick Children, Toronto,
Ontario, Canada
3 Centre for Research on Inner City Health, The Keenan Research Centre, Li
Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario,
Canada
We would like to thank Michael A Colvin for highlighting the
distinction between the presence of the child's biological father in the
household and the presence of the mother's partner in the household. As
Dr Colvin points out, the data in Table 1 of our paper suggest that 14% of
five year old children in the study do not have their father living in
their home and, among the children of teenage mothers, this proportion is
53.5%. We thank Dr Colvin for highlighting this as this variable is
labelled incorrectly in Table 1 of our paper and it should read as
'Partner in the home at 5 years' (i.e. this would not necessarily be the
child's father) rather than 'Father in the home at 5 years'. We have also
looked at the effects on child cognitive ability of having the biological
father resident in the family home, both at the first survey (9 months)
and at the five-year follow-up. Overall, 73% of children had their father
resident at both surveys and 12.5% had their father leave by the time of
the five year survey; in the families with teenage mothers, these
proportions were 21.4% and 24.8% respectively. In addition, compared with
children whose fathers were in the home at both surveys, there was a
statistically significantly lower BAS Naming Vocabulary score in children
whose fathers had left during the study (-3.8), or who were not living in
the home at either survey (-7.2). In the small number of children whose
fathers were not there at baseline, but had returned to the family home
during the study, there was also an adverse effect on BAS Naming
Vocabulary score (-4.9), hence suggesting a negative impact of family
instability, as has been found in other studies, including the Millennium
Cohort Study. However, after adjusting for the other variables in our
models, the effect of family instability was not statistically significant
and did not alter our coefficients for mother's age (data available on
request). For example, model E from Table 2 of our paper shows a
statistically significantly lower BAS Naming Vocabulary score in children
of teenage mothers compared with children of mothers aged 25-34 (-3.8, 95%
CI: -6.3 to -1.3). When we replaced 'marital status' (which does not
distinguish between father and partner, or change of partner) in this
model with 'family instability' (as measured by the natural father's
residence in the child's home at both surveys) the effect of teenage
motherhood was very similar (-3.9, 95% CI -6.4 to -1.5). Hence, we
believe that the conclusions drawn from our study are robust.
To the Editor,
We are very pleased to see the comment from Dr Burke regarding the ethical and social considerations of Next Generation Sequencing, in response to our review.
As we noted in our original article, the field is very complex, with a major issue being the interpretation of sequencing data, such that without follow up investigations many variants cannot be confidently assigned as either beni...
Dear Editor-in-chief, in reaction to Charlotte M Wrights editorial "Failure to wean" (2013, 98: 838-840) we would like to add some data on the option of rapid tube weaning to enhance the discussion between rapid versus slow weaning programs and to advocate a flexible and individually tailored approach. As Mrs Wright comments saying that no program suits every child we would like to stress that especially medically fragil...
Dear Sirs,
We read with great interest your work on the cost effectiveness of clinical decision rules for minor head injury. As you point out, increased CT scanning reduces the risk of missing patients that require neurosurgery at the expense of increased radiation risk. This latter point has been recently raised in the literature [1,2] and prompted us to audit our practice of the appropriateness of CT scanning c...
The new paradigm in which children undergo genetic investigations acknowledges that genetic information belongs to families, as well as individuals. Recent ACMG guidance [1] requires clinical laboratories in the USA to 'screen' genomes for 56 highly penetrant mutations with 24 disease associations when undertaking next generation sequencing (NGS), regardless of the indication, the age of the patient, and their preferenc...
I read with great interest the important and elegant article written by Sullivan et al. Dealing with the death of children is always distressing, emotional and complex. It naturally leads to many difficult questions about what and when to say and do. There are no simple answers.
However, one of the few certainties is that whatever decisions are taken, the parents will have to live, and hopefully cope, with what...
I read with interest the article by Murray et al on prevention of respiratory syncytial virus disease in infants and children. However, the indications for use of passive immunoprophylaxis with Palivizumab as shown in Box 1 and referenced to in the statement 'Current JCVI guidance states that palivizumab is only cost-effective..... at most risk of severe disease (see box 1)17' are incorrect and represent a mixture of the...
Dr. Bauchner and many other professionals inside and around pediatric emergency medicine are asking: Why doesn?t staff members like parents present in resuscitation?
Let us ask two other questions - one to the man on the street: What would be worst: to meet your child dead after resuscitation or the alternative: to meet your dead child dead AND to experience your dying child under ongoing resuscitation? The othe...
Dr Kemp and her colleagues have done us a great service over the years in collating and analysing the evidence base related to safeguarding.
I wonder however how they themselves translate their work into practice. Consistently they report the likelihood that an abused child will have such and such an injury. But in practice we must travel the other direction. We must ask: in a child with such and such an inju...
We thank Professor Hall for drawing our attention to this issue. At present there are no relevant published recommendations in the UK but we would agree that both vaccination against VZV and influenza should be offered and recommended to children receiving long term aspirin.
Conflict of Interest:
None declared
Maria A Quigley1, Claire Carson1, Julia Morinis1,2,3.
1 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK
2 Department of Paediatric Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
3 Centre for Research on Inner City Health, The Keenan Research Centre, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada
We would like to...
Pages