Mai Berger

“Diagnosis by Behavioral Observation” Home-Videosomnography – A Rigorous Ethnographic Approach to Sleep of Children with Neurodevelopmental Conditions

Introduction: Advanced video technology is available for sleep-laboratories. However, low-cost equipment for screening in the home setting has not been identified and tested, nor has a methodology for analysis of video recordings been suggested. Methods: We investigated different combinations of hardware/software for home-videosomnography (HVS) and established a process for qualitative and quantitative analysis of HVS-recordings. A case vignette (HVS analysis for a 5.5-year-old girl with major insomnia and several co-morbidities) demonstrates how methodological considerations were addressed and how HVS added value to clinical assessment. Results: We suggest an “ideal set of hardware/software” that is reliable, affordable (∼

Pathways to Overmedication and Polypharmacy: Case Examples from Adolescents with Fetal Alcohol Spectrum Disorders

500) and portable (=2.8 kg) to conduct non-invasive HVS, which allows time-lapse analyses. The equipment consists of a net-book, a camera with infrared optics, and a video capture device. (1) We present an HVS-analysis protocol consisting of three steps of analysis at varying replay speeds: (a) basic overview and classification at 16× normal speed; (b) second viewing and detailed descriptions at 4–8× normal speed, and (c) viewing, listening, and in-depth descriptions at real-time speed. (2) We also present a custom software program that facilitates video analysis and note-taking (Annotator©), and Optical Flow software that automatically quantifies movement for internal quality control of the HVS-recording. The case vignette demonstrates how the HVS-recordings revealed the dimension of insomnia caused by restless legs syndrome, and illustrated the cascade of symptoms, challenging behaviors, and resulting medications. Conclusion: The strategy of using HVS, although requiring validation and reliability testing, opens the floor for a new “observational sleep medicine,” which has been useful in describing discomfort-related behavioral movement patterns in patients with communication difficulties presenting with challenging/disruptive sleep/wake behaviors.

Emplotted Narratives and Structured "Behavioral Observations" Supporting the Diagnosis of Willis-Ekbom Disease/Restless Legs Syndrome in Children with Neurodevelopmental Conditions.

Abstract Due to their challenging/disruptive daytime behaviors, children and youth with fetal alcohol spectrum disorders (FASDs) are at high risk for multiple medication prescriptions. Here, we describe how undiagnosed chronic sleep problems paved the pathway for overmedication and polypharmacy in adolescents with FASDs: prescription of multiple, off-label, and concurrent pharmaceutical medications. We analyzed the challenging/disruptive sleep and wake behaviors and medication history of 17 adolescent patients with a pharmacotherapy timeline capturing (1) the medications and order of prescriptions and (2) the age at the time of first prescription. An in-depth case report demonstrates how missed sleep problems led to a diagnosis and medication cascade, impacting the life and development of the patient. All patients presented with chronic insomnia and fulfilled the diagnostic criteria for familial Willis Ekbom disease (restless legs syndrome). 11/17 had additional clinical signs of sleep-disordered breathing, and 14/17 showed excessive daytime behaviors (sleepiness and/or hyperactive-like behaviors to fight fatigue/sleepiness). The medication analysis revealed two patterns in prescription strategies: (a) targeting sleep problems with melatonin, second-generation antipsychotics, and/or combination of both (10/17) and (b) targeting hyperactive-like daytime behaviors with a psychostimulant (7/10). In addition, many medications were prescribed in combination and at alarmingly young ages. Based on our findings, we suggest assessment of sleep before any assessment of challenging/disruptive daytime behaviors and prescription of psychotropic medications. This observation raises the question to what degree children with neurodevelopmental conditions are subject to overmedication due to a missed underlying condition.

Sleep-Wake-Behaviour App: Towards developing a database for informing e-coaching solutions for neurodevelopmental disorders in children

Willis‐Ekbom disease/restless legs syndrome (WED/RLS) seems to be a frequent cause of intractable chronic insomnia (ICI) but is under‐recognized in children/adolescents with neurodevelopmental conditions (NDCs), as many patients do not have the ability to express the underlying “urge‐to‐move”. In light of this, we aim to develop a protocol for behavioral observations supporting the diagnosis of WED/RLS.

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

Sleep plays an essential role in the overall health and wellbeing. Sleep quality might adversely affect neurodevelopment disorders such as cerebral palsy, autism spectrum disorders, and fetal alcohol spectrum disorders. However, the effect of sleep quality on the different neurodevelopment disorder is not clear. We developed a web app, called Sleep--Wake--Behaviour Application (SWAPP) which allows caregivers and clinicians to log and analyze sleep and daytime behaviours of children with sleep disorders. SWAPP is developed to serve two purposes. First, it allows the caregivers and clinicians to collect and analyze data whenever it is necessary. Second, it allows clinicians an opportunity to analyze the collected data to understand the relationship between sleep, tailored interventions, and neurodevelopmental disorders better. We present the design of the SWAPP and discuss how it can be used for implementing e-coaching for caregivers of kids with neurodevelopmental disorders.

Prenatal alcohol exposure and sleep-wake behaviors: exploratory and naturalistic observations in the clinical setting and in an animal model

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.