PP12.12 – 3038: Phenotyping children with neurodevelopmental conditions (NDCs), major Insomnia and familial Willis Ekbom disease/restless legs syndrome (WED/RLS)

Abstract

Objective Diagnosing early-onset childhood WED/RLS can be challenging, as young children or children with NDCs might not be able to communicate their symptoms. Additional supportive criteria like positive family history or structured observations during a suggested clinical immobilization test (SCIT) are considered helpful. We investigated phenotypic characteristics of familial WED in children with NDCs and major chronic insomnia. Methods 31/346 children-mother pairs fulfilled the inclusion criteria of having mothers with clinical evidence of WED. All received a sleep/wake behaviour assessment, including a SCIT. Their presentations were captured prospectively in reports that utilized the concept of therapeutic emplotment, using narrative schema to analyze bedtime problems, nighttime awakenings, challenging daytime behaviours, and routines; these reports were shared with clients for quality control purposes; the database was developed retrospectively. Results 28/31 children-mother pairs were analyzed further: The mean age of the children was 8.5 years. All children were diagnosed or investigated for NDCs and 87% of patients showed at least one psychiatric comorbidity. All presented with major insomnia most probably due to familial WED, but only 45% could express experienced sensations and fulfilled the criteria of definitive WED/RLS with the help of the SCIT; 74% of them presented with probable PLM in sleep and 42% with PLM in wakefulness; 97% showed tactile sensitivities with a shifted pain threshold (60%), defined as less reactivity to pain; 55% experienced parasomnias, and 71% had signs of sleep disordered breathing. Conclusion In children with NDCs and major insomnia, typical WED symptoms may be overlaid with neurologic, behavioural and psychiatric disturbances; in addition many patients are not able to communicate symptoms. Including family history and developing a structured assessment concept started outlining the phenotypic spectrum of WED and will help to understand the dimension of WED in children with NDCs further.