Journal of paediatrics and child health最新文献

The article authored by Lee and Gasparetto¹ provides an overview of advanced therapies for the management of inflammatory bowel disease (IBD) in children, with regards to the current and future options. This commentary aims to add an Australasian perspective.

Rates of IBD in Australasian children and adolescents have increased in recent years, similar to changes observed other regions.^{2, 3} IBD can present with typical gastrointestinal symptoms, such as diarrhoea or abdominal pain, but some children may have less obvious or extra-intestinal symptoms, such as poor growth or recurrent oral ulceration.⁴ The consequences of untreated or inadequately managed IBD in children can include delayed puberty, impaired linear growth, disrupted schooling and adverse psychological impacts. Hence, early diagnosis and optimal management are critical to ensure that children with IBD thrive.

Generally, the management of IBD can be considered in terms of therapies that induce remission and agents that maintain remission (prevent relapse).⁵ Goals of interventions include resolution of symptoms, optimising growth and development and normalising inflammatory markers. The achievement of mucosal healing (MH) is increasing seen as a key goal: MH is associated with reduction in rates of hospitalisation, lower risk of relapse and less risk of disease complications.⁶ These therapeutic goals are encapsulated within the treat-to-target concepts, which can be subdivided into short-, medium- and long-term targets.⁷ With these thoughts in mind, the use of specific interventions can be streamlined and optimised to ensure that targets are reached.

Therapeutic interventions can be considered as nutritional, medical or surgical. The range of medical therapies has traditionally included anti-inflammatory agents (such as mesalazine and corticosteroids), antibiotics (such as metronidazole) and immunomodulators (e.g., azathioprine). The biologic generation began with the introduction of the tumour necrosis factor (TNF) inhibitor infliximab in the late 1990s. This agent was followed by adalimumab, another TNF-inhibitor. More recently, an array of other advanced therapies (biologic and small molecule therapies) has been introduced for the management of IBD.

In their review, Lee and Gasparetto¹ present a concise review of randomised controlled trials (RCTs) and observational studies reporting the safety and efficacy of advanced therapies for the management of IBD, and emphasise the relevance to children. These agents fall into a number of groupings, according to their underlying mechanisms of action. The authors also highlight some of the distinctive needs of children with IBD: these include high disease burden, limited approved therapies, along with delays in trials involving children and regulatory

An attending on my paediatrics rotation once asked me and a group of my peers, ‘What is the single most important thing you should try to identify during every patient encounter?’

‘Is the child “sick or not sick”?’ a bunch of us responded, quoting the oft-cited paediatrics buzz phrase. ‘Are their ABCs intact?’ someone else chimed in.

‘Those are both crucial questions to be asking’, the attending concurred. ‘But the single biggest thing I care about is, does this child have someone in their corner fighting for them? Whether it's a parent or someone else, does this child have an adult in their life who cares deeply about their wellbeing?’

Having just finished my paediatrics rotation, I was struck by the variety of family structures that existed among the patients I had the privilege of treating and learning from. Media has historically portrayed the traditional family as a heterosexual couple with biological children, usually a boy and a girl. This was the first definition of family that I learned as a child. As I grew older and saw the world around me, the definition of family expanded to include more than just this initial version. And most recently, on this rotation, my understanding of family has continued to expand even further.

When I think about family, I think about the teenage boy I cared for who, prior to his hospital admission, was living with his older brother because his father had died years ago and his mother had moved out of the country. Only a few years older than the boy himself, the brother visited him in the hospital nearly every day to try to make those dreary days a bit cheerier, while Mom—who spoke limited English—did her best to try to understand her son's complex medical workup through a telephonic language interpreter.

I also recall the two moms I met in the NICU, who had overcome so many obstacles to achieve biological parenthood together, now facing yet another challenge: their newborn's hypoxic birth injury. They read the consent forms for each procedure with careful precision, determined to make the best, most-informed decisions possible for their family.

Lastly, I remember the divorced dad and his growing son. Dad worked three jobs to secure just enough money to support both his son and him with basic living necessities. Mom, who lived in a separate state, drove all the way down to join her son's annual well-child visit and check up on him. The parents argued in the examination room about how best to take care of their son as he awkwardly watched the interaction. As difficult as it was, I could tell the tension came from a place of love and wanting to do right by their son.

No single family fit the societally ingrained definition of a ‘perfect family’, yet all cared deeply for the children in their lives and overcame immense barriers to pursue the best possible care for them. What I observed only further proved that families come in all shapes, sizes, colours, and numbers.

The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease-specific treatments to change the trajectory of health and developmental outcomes for their children. To date, treatments for intellectual disability have focussed on metabolic disorders, where early treatment has improved cognition and neurodevelopmental outcomes. In this article, we discuss the treatment strategies that may be possible to change the neurodevelopmental outcome in a broader range of genetic forms of intellectual disability. These strategies include substrate modification, enzyme replacement therapy, gene therapy and molecular therapies. We argue that intellectual disability should now be considered a potentially treatable condition and a strong candidate for precision medicine.

A 14-year-old girl presented with persistent conjugated hyperbilirubinemia (Serum Bilirubin – 99.18 μmol/L (total), 63.27 μmol/L (conjugated)) with normal serum transaminases (Aspartate aminotransferase – 17 U/L and Alanine aminotransferase – 16 U/L) and a normal systemic examination. Her full blood count, coagulation profile, thyroid function test, renal function test and serologies for viral hepatitis and chronic liver disease were normal. Ultrasound abdomen showed mild hepatomegaly (liver span – 15.8 cm) with normal echotexture and outline. A liver biopsy was completed, which showed jet black coloured tissue (Fig. 1). Identify the condition – (Answer on page 468)