medwireNews: International guidance has been published on managing the transition of children with endocrine disorders from paediatric to adult services, and on the use of genetic testing in children with short stature.
Healthcare transition
The European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology published their joint clinical practice guidance on healthcare transition in Hormone Research in Paediatrics.
To develop the guidance, Enora Le Roux (AP-HP Nord, Université Paris Cité, France) and co-authors initially identified 351 recommendations on paediatric to adult transition for endocrine or non-specified diseases in 55 articles published between 2011 and 2023.
These were discussed by a core multidisciplinary group of seven experts and then refined by focus groups comprising 18 adult and paediatric endocrinologists and nurses from 10 European countries, as well as patient representatives from five advocacy groups.
“Throughout this guidance, we use ‘transition’ to describe the comprehensive, gradual process of preparing young people for adult healthcare but also support their medical, psychosocial, and educational needs as they move toward greater independence and integration into adult life, while ‘transfer’ refers specifically to the single point in time when care responsibility shifts from paediatric to adult providers”, the team explains.
The guidance includes evidence-based recommendations across 11 domains and encourages healthcare providers to “engage patients and their families in collaborative discussions to identify individual needs and priorities”, with the aim of creating a tailored transition plan to optimise individual outcomes and resource use.
The first four domains of evidence-based recommendations – structured transition, patient empowerment, patient–professional relationship, and multidisciplinary team – should be considered across the whole timeline of transition, beginning early–mid adolescence, continuing throughout mid–late adolescence, and transfer of care, and from late adolescence to young adulthood.
In addition, parental preparation for transition should be focused during early, mid and late adolescence with parental involvement continuing for a period after transfer, while dedicated transition co-ordination should start in mid–late adolescence prior to transfer and continue in the early stages of late adolescence to young adulthood, and management of nonattendance from transfer onwards.
In addition, the guidance includes domains of psychological assessment and readiness assessment at the start of the three age groups, plus an organisational level domain of healthcare provider education via lectures and staff exchange programmes throughout the timeline.
“We recognise that in many clinical settings, the proposed comprehensive approach – and the availability of key roles such as a care coordinator/navigator, or dedicated psychologist – may be limited”, Le Roux et al write.
“Nevertheless, we are confident that by applying this guidance, the transition of the majority of patients with childhood-onset chronic endocrine disorders will become easier and more successful”, they say.
“Future efforts should focus on monitoring the integration of this guidance into routine practice, while exploring implementation patterns, barriers, and outcomes across different European healthcare systems.”
Short stature genetic testing
The first international guidelines on molecular genetic testing for patients younger than 18 years with short stature of unknown cause was initiated by ESPE and created at the 2024 International Growth Genetics Guideline Consortium meeting by paediatric endocrinologists, medical geneticists, clinical laboratory geneticists, and a clinical epidemiologist–endocrinologist.
“The current guideline provides a general overview of the approach to the evaluation of a child with short stature, followed by recommendations identifying factors in the medical and family history, physical examination, radiographic, and laboratory work up which increase the likelihood of identifying a genetic etiology”, say Stefano Cianfarani (“Bambino Gesù” Children’s Hospital, IRCCS, Rome, Italy) and co-authors in the European Journal of Endocrinology.
The guideline states that potential benefits of genetic testing include a definitive diagnosis, early diagnosis before full phenotypic expression, accurate genetic counselling of family members and avoidance of growth hormone (GH) stimulation tests.
However, the authors caution that a false–positive test may cause unnecessary anxiety or inappropriate care, as might detection of variants of uncertain significance or secondary findings. Cianfarani et al add that “[s]econdary findings can affect certain types of insurance coverage.”
The consensus includes an algorithm for diagnostic work-up of short stature, beginning with clinical evaluation of medical and family history, physical examination, growth, radiographic assessment of bone age, and laboratory analyses, as well as testing for Turner syndrome in girls.
“Genetic testing is not indicated in a child with a secondary cause of short stature or suspected constitutional delay of growth and puberty,” the guidelines say.
Therefore, after excluding secondary growth disorders, such as Coeliac disease or hypothyroidism, the algorithm recommends the following classification and management of children:
- A healthy child with isolated short stature – consider genetic testing with a growth disorder panel in line with patient and parental wishes, with further referral for exome sequencing (ES) or genome sequencing (GS) if initial testing is negative.
- Skeletal dysplasia – conduct a detailed skeletal survey and refer to clinical geneticist for targeted or panel testing, with further referral for ES or GS if initial testing is negative.
- A defect in the GH or insulin-like growth factor 1 axis – validate using a targeted panel or first-line candidate gene approach with further referral for ES or GS analysis if initial testing is negative.
- Syndromic short stature – conduct a detailed survey of neurodevelopmental disorders, dysmorphisms and major malformations, and refer for either targeted testing of known syndrome or to a clinical geneticist for ES or GS.
Cianfarani et al highlight that current testing identifies a monogenic cause in up to 80% of children with syndromic short stature or suspected skeletal dysplasia but less than 15% of those with isolated short stature. “We assume that there are still further genes or novel genetic variants causing [short stature] to be identified,” they write.
Acknowledging the diagnostic potential of RNA sequencing, and the increasing understanding of the interactions between genes at different loci (digenic or oligogenic inheritance), and epigenetic changes, such as methylation, the authors conclude that “the importance of genetic testing in the diagnostic workup of [short stature] will continue to increase.”
By Lynda Williams
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