Health-related quality of life in 22q11.2 deletion syndrome: The child's perspective.

AIM: The 22q11.2 deletion syndrome (22qDS) is a genetic syndrome that results in a complex physical, behavioural and psychological phenotype. Health-related quality of life (HRQOL) is an established clinical outcome that has been minimally studied in children with 22qDS. The purpose of this study was to explore HRQOL among children and adolescents with 22qDS from the perspective of the child and to determine how their HRQOL measures compare to those of a healthy peer group and a chronic disease peer group. METHODS: We recruited individuals between the ages of 8 and 18 with a positive genetic diagnosis of 22qDS (n = 28) and a parent of the child. Participants completed the paired Paediatric Quality of Life Inventory 4.0 questionnaires. Comparisons were made with a previous study of healthy and diseased children. RESULTS: Children with 22qDS had a significantly poorer HRQOL when compared to age-matched cohorts of healthy children and children with chronic disease. Within the study, there was variable proxy-self agreement, and children with 22qDS reported lower HRQOL than adolescents with 22qDS. CONCLUSION: This study is the first to explore HRQOL from the perspective of the child with 22qDS, and our findings support the existing literature that this condition is associated with a poor HRQOL.

Sleep Disturbance in Children with Fetal Alcohol Spectrum Disorder and the Relationship to the Neurodevelopmental Profile.

OBJECTIVE: Sleep disturbance is an important feature of fetal alcohol spectrum disorder (FASD). We sought to describe sleep patterns in school-aged children with FASD, in comparison with a typically developing community group, and investigate the relationship between sleep and neurodevelopmental profiles. METHOD: The FASD cohort (N = 36) was recruited from a tertiary Australian FASD diagnostic center, and the typically developing group (N = 36) was previously recruited as a control cohort for a separate study. Sleep disturbance was assessed with the caregiver-completed Sleep Disturbance Scale for Children (SDSC) questionnaire. Neurodevelopmental assessment results for the 10 domains impaired in FASD were used for correlations with sleep disturbance. RESULTS: In the FASD group, 80% of children scored above the SDSC cutoff, compared with 22% of the control group ( p < 0.001). Statistically significant group differences were seen for all 6 subscales of the SDSC ( p < 0.05). The most frequently affected domains in the FASD group related to difficulties with initiating and maintaining sleep (58%), sleep-wake transition disorders (44%), and disorders of arousal (42%). A statistically significant relationship was not found between sleep and the severity of neurodevelopmental impairment or impairment of a particular domain, acknowledging the limitations of our small sample size. Half of the FASD sample (52%) were taking a pharmaceutical agent to support sleep, which was not associated with lower SDSC scores. CONCLUSION: In this small study, sleep disturbances were frequently reported by carers of children with FASD, independent of the severity of their neurodevelopmental impairments. Persistent sleep disturbance despite the use of sleep medications highlights the need for prospective studies exploring sleep interventions in this population. Integration of behavioral sleep medicine into management is recommended for all children with FASD.

Is out-patient based treatment of bronchiectasis exacerbations in children comparable to inpatient based treatment?

BACKGROUND AND OBJECTIVE: Children with bronchiectasis have recurrent exacerbations and may require hospitalization. "Hospital in the home (HITH)" is used as an alternative to hospitalization for children with cystic fibrosis (CF) but to date, there is no published data on children without CF. We describe our experience of HITH (intravenous [IV] antibiotics and at least once-daily physiotherapy-treated airway clearance therapy) in a cohort of children with bronchiectasis, comparing outcomes between hospital and HITH-based pathways. METHODS: Medical records were retrospectively reviewed in children with bronchiectasis who were hospitalized in our center from July 2016 to July 2018. We compared treatment duration, symptom resolution, adverse events, oral antibiotic prescription on discharge and "time-to-next hospitalization" between children managed with the two treatment pathways. RESULTS: Exacerbations in 63 children (median age = 6 years [range: 1-17]; females = 33, indigenous = 8) with bronchiectasis treated with IV antibiotic therapy were analyzed (HITH n = 45, 71.5%). Duration of treatment and symptom resolution was similar between groups (hospital: median = 14 days [interquartile range {IQR}: 14-14] and 12/18 [66.6%], respectively vs HITH: 14 [14-15.5] and 31/45 [69%]; P = .53 and .85, respectively). There was no significant difference in adverse events (16.6% vs 9%), prescription of oral antibiotics on discharge (44% vs 24%), or "time-to-next hospitalization" (median 42 [IQR: 24-100] vs 67 [IQR: 32-95] weeks) between hospital and HITH groups, respectively. CONCLUSIONS: In children with bronchiectasis treated for a severe exacerbation, receiving treatment in the home setting with HITH does not compromise short-term clinical outcomes compared to hospital only treatment. Prospective studies are required to provide more robust evidence in this under-researched area.