Scoping review of symptoms in children with rare, progressive, life-threatening disorders

Abstract

BackgroundQ3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions.AimsIn this scoping review, we systematically identified and mapped the existing literature on symptom management for children with Q3 conditions. We focused on the most common and distressing symptoms, namely alertness, behavioural problems, bowel incontinence, breathing difficulties, constipation, feeding difficulties, sleep disturbance, temperature regulation, tone and motor problems and urinary incontinence. For children with complex health conditions, good symptom management is pertinent to ensure the highest possible quality of life.MethodsScoping review. Electronic database searches in Ovid MEDLINE, Embase and CINAHL and a comprehensive grey literature search.ResultsWe included 292 studies in our final synthesis. The most commonly reported conditions in the studies were Rett syndrome (n=69), followed by Cornelia de Lange syndrome (n=25) and tuberous sclerosis (n=16). Tone and motor problems were the most commonly investigated symptom (n=141), followed by behavioural problems (n=82) and sleep disturbance (n=62).ConclusionThe evidence for symptom management in Q3 conditions is concentrated around a few conditions, and these studies may not be applicable to other conditions. The evidence is dispersed in the literature and difficult to access, which further challenges healthcare providers. More research needs to be done in these conditions to provide high-quality evidence for the care of these children.

Quality of life beyond diagnosis in intellectual disability – Latent profiling

“…"Disorders of Initiating and Maintaining Sleep" and "Sleep Breathing Disorder" scores from the sleep measure, and constipation were similar between classes, although there were different class prevalences for the frequency of epilepsy. Both sleep problems (Hollway & Aman, 2011) and constipation (Pawliuk, et al, 2020) are pervasive across disability groups. These results suggest that each diagnostic group was associated with complexities in their physical health needs.…”

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

“…They represent a small portion of children but account for more than one third of pediatric healthcare resources consumed annually [ 21 ]. Children with RD require multidisciplinary care coordination among multiple sectors of care [ 22 , 23 , 24 ], experience a higher frequency of inpatient stays than others, and experience significant obstacles to having their voices heard. Studies have shown variable efforts for care teams to involve the child with an RD in their own care, relying on parent caregiver reports predominantly [ 25 ].…”

Applicability of Actigraphy for Assessing Sleep Behaviour in Children with Palliative Care Needs Benchmarked against the Gold Standard Polysomnography

“…At this point, further studies with children with different clinical pictures are urgently needed to find out whether and which exact features the sleep architecture of severely ill children actually shows. This is of utmost importance because, until today, it is often pointed out that sleep problems are frequent in this population, but especially physiological findings are still extremely scarce [ 40 , 41 , 42 ]. More specifically, according to the International Classification of Sleep Disorders, various sleep disorders are associated with a change in sleep architecture.…”