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INTRODUCTION: The literature shows that nocturnal enuresis is not an isolated phenomenon of urinary loss during sleep, but encompasses a set of systemic clinical manifestations that significantly influence children's quality of life and development. However, the understanding of the clinical and physiological relationship of these systemic manifestations remains a clinical challenge. The recognition of these manifestations and their subsequent categorisation, may provide better insights into integrated clinical manifestations, facilitating the understanding of pathophysiological mechanisms, and promote increased assertiveness in the assessment and the selection of appropriate therapies. OBJECTIVE: The aim of this study is to develop a phenotyping model for children with nocturnal enuresis based on evidence. METHODS: This study presents a clinical phenotyping model for children with nocturnal enuresis based on an analytical and methodological review of the literature, about nocturnal enuresis and its associated clinical manifestations. There was a bibliometric analysis carried out to better analyse outcomes. After reading and analysing the literature, the clinical manifestations were categorised into domains and submitted to the validation of an expert committee with extensive experience in their specific area of expertise. A visual representation of the categorised model was developed to make the phenotyping concept easily understandable to all professionals. RESULTS: The clinical manifestations related to nocturnal enuresis have been categorised according to frequency and relation found in the literature and validation by an expert committee and the development of the phenotyping model for children with nocturnal enuresis was completed. CONCLUSION: The present study developed an evidence-based phenotyping model for children with nocturnal enuresis.
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BACKGROUND: Enuresis (NE) is a clinical condition of multifactorial etiology that leads to difficulties in child/adolescent social interaction. METHODS: This was a prospective study on the impact of multidisciplinary assessment of 6- to 17-year-old patients with monosymptomatic nocturnal enuresis (MNE), including a structured history, clinical/neurological examination, bladder and bowel diaries, sleep diary and questionnaires, psychological evaluation [Child Behavior Checklist (CBCL) and PedsQL 4.0 questionnaires], urinary sonography, blood and urine laboratory tests, polysonography (PSG), and balance evaluation. RESULTS: A total of 140 enuretic participants were evaluated, of whom 27 were diagnosed with NE complicated by urinary disorder, four with hypercalciuria, three with nephropathy and one with attention-deficit hyperactivity disorder. Among the 87 participants who underwent PSG, six were diagnosed with severe apnea. Of the 82 MNE patients who underwent full assessment, 62 were male (75.6 %), and the mean age was 9.5 (±2.6) years. A family history of NE was diagnosed in 91.1 % of first- and second-degree relatives, constipation in 89.3 % and mild/moderate apnea in 40.7 %. Balance control alteration was identified by physical therapy evaluation of MNE patients. Participants' quality of life evaluation scores were significantly lower than those of their parents. CONCLUSION: Enuresis is a multifactorial disorder that requires a structured diagnostic approach.
