Triple neural tube defect and the multisite closure theory for neural tube defects: is there an additional site? Case report

Triple neural tube defects (NTDs) are rare; only 1 case exists in the available literature. There has been a divergent view on the etiogenesis of NTDs, and 2 main theories have been postulated: the more widely held orderly closure theory and the less accepted multisite closure theory. In this article the authors present 2 cases of patients with triple NTDs, and they examine the embryological basis of NTDs with special reference to the multisite closure theory. The patient in Case 1 had a 2-level myelomeningocele (MMC) along with an encephalocele; the patient in Case 2 had a 3-level MMC. To the authors' knowledge, this paper outlines only the second and third cases described in world literature of triple NTDs including the first case of a triple MMC. The embryogenesis of triple NTDs can be better explained by the multisite closure theory. However, it fails to adequately explain the triple MMC in Case 2, given that the closure has to proceed in an orderly manner. The authors thus propose an additional closure site to explain this.     

Novel association of multiple gastrointestinal anomalies in a single patient: Can Sonic Hedgehog explain it?

The occurrence of four gastrointestinal (GIT) anomalies in a single patient is extremely rare. Only one report of four GIT anomalies in a child has been published in the English literature. The current report presents a child with four anomalies and discusses the molecular mechanisms which control the development of the gastrointestinal tract.     

Growth after ventricular septal defect repair: does defect size matter? A 10‐year experience

Aim: To evaluate whether the ventricular septal defect (VSD) size, along with the degree of preoperative growth impairment and age at repair, may influence postoperative growth, and if VSD size can be useful to identify children at risk for preoperative failure to thrive. Methods: Sixty‐eight children submitted to VSD repair in a Brazilian tertiary‐care institution were evaluated. Weight and height measurements were converted to Z‐scores. Ventricular septal defect size was normalized by dividing it by the aortic root diameter (VSD/Ao ratio). Results: Twenty‐six patients (38%) had significantly low weight‐for‐height, 10 patients (15%) had significantly low height‐for‐age and 13 patients (19%) had both conditions at repair. Catch‐up growth occurred in 82% of patients for weight‐for‐age, in 75% of patients for height‐for‐age and in 89% of patients for weight‐for‐height. Weight‐for‐height Z‐scores at surgery were significantly lower in patients who underwent repair before 9 months of age. The VSD/Ao ratio did not associate with any other data. On multivariate analysis, weight‐for‐age Z‐scores and age at surgery were independent predictors of long‐term weight and height respectively. Conclusion: The VSD/Ao ratio was not a good predictor of preoperative failure to thrive. Most patients had preoperative growth impairment and presented catch‐up growth after repair. Preoperative growth status and age at surgery influenced long‐term growth.     

Editorial: ‘What's up, (R)DoC?’ – can identifying core dimensions of early functioning help us understand,and then reduce,developmental risk for mental disorders?

In the US the National Institute of Mental Health (NIMH), the main funder of mental health research in the world, has recently changed its funding model to promote a radically new perspective for mental health science. This bold, and for some controversial, initiative, termed the Research Diagnostic Criteria (or RDoC for short), intends to shift the focus of research, and eventually clinical practice, away from existing diagnostic categories, as recently updated in the DSM‐5, towards ‘new ways of classifying psychopathology based on dimensions of observable behavior and neurobiological measures.’ This reorientation from discrete categorical disorder manifestations to underlying cross‐cutting dimensions of individual functioning has generated considerable debate across the community of mental health researchers and clinicians (with strong views voiced both pro and con). Given its pivotal role in defining the research agenda globally, there is little doubt that this US science funding initiative will also have ramifications for researchers and clinicians worldwide. In this Editorial we focus specifically on the translational potential of the dimensional RDoC approach, properly extended to developmental models of early risk, in terms of its value as a potential driver of early intervention/prevention models; in the current issue of the JCPP this is exemplified by a number of papers thata address the mapping of underlying dimensions of core functioning to disorder risk, providing evidence for their potential predictive power as early markers of later disorder processes.     

Transient hyperphosphatasemia in pediatric renal transplant patients – Is there a need for concern and when?

Kutílek ?, Skálová S, Vethamuthu J, Geier P, Feber J. Transient hyperphosphatasemia in pediatric renal transplant patients – Is there a need for concern and when?
Pediatr Transplantation 2012: 16: E5–E9. © 2010 John Wiley & Sons A/S. Abstract: TH of infancy and early childhood is characterized by transiently increased S‐ALP, predominantly its bone or liver isoforms. There are neither signs of metabolic bone disease or hepatopathy corresponding to the increased S‐ALP, nor a common underlying/triggering disease. TH may also occur in children post‐renal Tx, which may raise significant concerns and anxiety. We describe four patients aged 2.8–7 yr in whom the TH occurred at 11–34 (median = 28) months after Tx and lasted from 40 to 105 (median = 63) days. No obvious cause/trigger of TH could be found; the clinical status and bone turnover were not altered. In cases of TH post‐Tx, we recommend the evaluation of basic biochemical indices and wrist X‐ray. If these results are normal, TH is most likely the diagnosis and the S‐ALP can be monitored over the next three months without further testing. In patients with persisting TH for more than three months and/or in children with pre‐existing or suspected metabolic bone disease, further evaluation may be indicated. In conclusion, TH is a benign disorder in patients post‐Tx. Detailed investigation including bone biopsy is only indicated in patients with persisting TH.     

Special Editorial: Open science and the Journal of Child Psychology & Psychiatry – next steps?

The JCPP works at the cutting edge of clinical science to publish ground‐breaking research across the full range of topics in the field of child psychology and psychiatry. As JCPP editors, who are also active researchers in our own right, we are conscious of the threat posed to our field by what has come to be known as the reproducibility crisis ‐ the fact that many published findings, initially trumpeted as important developments in the field, cannot be replicated and are therefore likely to be spurious (Nature Human Behaviour, 1, 2017, 21). The JCPP is conscious of its responsibility to play its part in addressing this issue as best it can. The roots of the problem are complex and its causes multifaceted. As one part of its response, the JCPP embraces the principles of open science and encourage preregistration of study protocols. Furthermore, we are working towards implementing new systems to promote preregistration with the hope of increasing scientific transparency and accountability and reducing the risks of selective reporting and posthoc rationalisation of findings (Journal of Child Psychology & Psychiatry, 59, 2018, 1).     

End‐stage renal disease due to ARPKD in the first months of life: Transplantation or dialysis? – Two case reports

Beil S, Drube J, Gluer S, Lehner F, Ehrich JHH, Pape L. End‐stage renal disease due to ARPKD in the first months of life: Transplantation or dialysis? – Two case reports.
Pediatr Transplantation 2010: 14:E75–E78. © 2009 John Wiley & Sons A/S. Abstract: ARPKD with renal insufficiency during the first months of life is a clinical challenge. We report on two children with ARPKD with massively enlarged kidneys requiring renal replacement therapy in early infancy. Patient 1 developed pulmonary insufficiency due to massively enlarged kidneys. At the age of six months the girl was listed for KT as “high urgency” on the Eurotransplant waiting list. A kidney from a deceased donor was pre‐emptively transplanted and simultaneous nephrectomy performed. No postoperative complications were observed, and the patient was discharged from in‐patient care 42 days after transplantation. Unexpectedly, she died at the age of one yr due to cerebral vascular spasms of unknown origin. Patient 2 was transferred at the age of three months to our clinic with life‐threatening pulmonary insufficiency. Pre‐emptive KT was not possible; therefore, bilateral nephrectomy was performed and PD begun. The boy is still doing well on PD one yr later. Pre‐emptive KT and bilateral nephrectomy followed by PD are two options for infants with ARPKD and excessive kidney enlargement. PD could be complicated and in some cases become impossible by peritoneal damage during nephrectomy. On the other hand, KT covers a high risk of infections caused by immunosuppression. The decision, which method to choose, should be driven by the individual situation of the patient and the expertise of the center.     

Commentary: PDA – public display of affection or pathological demand avoidance? – reflections on O'Nions et al. (2014)

A group of children presents with a rather peculiar type of oppositional behaviours, sometimes now subsumed under the label of ‘pathological demand avoidance’ syndrome, also increasingly referred to as PDA. Boys and girls with ‘this kind of PDA’ will do anything to avoid meeting demands of adults and children alike. The behaviours ‘used’ in maintaining avoidance range from openly oppositional or manipulative to ‘extreme shyness’, passivity and muteness. These behaviours in terms of expression of affection are rather the opposite of those associated with the commonly used meaning of PDA. However, the avoidant behaviour is quite often ‘publicly displayed’ and with no feeling for the inappropriateness of the, sometimes even, exhibitionist style of extreme demand avoidance (EDA). The ‘disorder’ was first heard of in 1980, when Elisabeth Newson presented the first 12 cases of what she believed to be a ‘new’ and separate syndrome and that she referred to as PDA. Even though PDA has attracted quite a bit of clinical attention in the United Kingdom and other parts of Europe (including Scandinavia), virtually no research has been published in the field so far (Newson, Le Maréchal, & David, 2003 ). Experienced clinicians throughout child psychiatry, child neurology and paediatrics testify to its existence and the very major problems encountered when it comes to intervention and treatment. It is therefore a major step forward that O′Nions and co‐workers (this issue) have developed a new ‘trait measure’ for PDA (‘the EDA‐Q’), a measure that appears to hold considerable promise for research, and eventually for clinical practice.     

Olive ingestion causing a false suspicion of relapsed neuroblastoma: A case of “oliveblastoma?”

Measurement of the urine catecholamine metabolites homovanillic acid (HVA) and vanillylmandelic acid (VMA) are the standard method for detecting disease recurrence in neuroblastoma. We present a case of abnormal concentrations of catecholamine metabolites that prompted investigations for relapsed neuroblastoma. However, further study revealed that the abnormal biochemistry was likely due to ingestion of olives. Olive ingestion should be considered when interpreting urine HVA and VMA results, and excluded if concentrations are unexpectedly abnormal.     

OPINION: Primary prevention of allergy – Will it soon become a reality?

It is generally accepted that allergic diseases are not curable and not preventable, but mainly controllable using pharmacotherapy (i.e. symptomatic medication). Recent research, however, demonstrated that a number of specific interventions can lead to (partial) primary prevention of allergy, especially of atopic dermatitis (AD) and food allergy (FA). Three types of primary prevention strategies have been successfully studied: early administration of bacterial products (most studies are on probiotics), early moisturizing in infants at risk for AD and early exposure to allergenic foods (peanut and egg). Results of these studies indicate that the stage might have been set. Surely, much more research needs to be carried out before advice can be given in clinical practice. This opinion article discusses the three types of beneficial interventions and gives ideas for future research, which might show the way for better strategies in primary prevention of allergic diseases.     

‘Is there any point in me doing this?’ Views and experiences of women in the Diabetes and Antenatal Milk Expressing (DAME) trial

The Diabetes and Antenatal Milk Expressing (DAME) randomised controlled trial (RCT) was conducted in 2011–2015, at six sites in Melbourne, Australia to explore the effect of advising women with diabetes in pregnancy to express breast milk from 36 weeks gestation. Infants whose mothers were randomised to express in pregnancy were more likely to be exclusively breast milk fed during their hospital stay, and there was no evidence of harm. This paper explores women''s views and experiences of antenatal expressing. In this two‐arm RCT, 635 women with diabetes in pregnancy who were otherwise of low medical risk were randomised at 36–37 weeks gestation to usual care (not expressing, n = 316), or the intervention, where women were advised to hand express for 10 min twice daily until birth (n = 319). Semistructured face‐to‐face interviews were conducted with 10 women who expressed antenatally. They were asked about their experiences of antenatal expressing, including how they felt about the overall experience, the amount of breast milk they expressed, making time to express, and their experience of breastfeeding. Thematic analysis of the in‐depth interviews identified six themes: (1) learning and adapting expressing, (2) feelings and sensations associated with expressing, (3) support, (4) dis/empowerment, (5) health, and (6) the value of breast milk. Women had both positive and negative experiences of antenatal expressing. If health professionals are advising antenatal expressing to women, it is important they understand the range of outcomes and experiences.