Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by the combination of a facial naevus flammeus and pial angioma, often associated with learning difficulties and/or epilepsy. Here, we report on the neuropsychological characteristics of a cohort of 92 children with SWS seen at a national referral center between 2002 and 2015. Almost a quarter (24%) had a diagnosis of autism spectrum disorder (ASD), with 45% overall having evidence of social communication difficulties (SCD). Autism spectrum disorder was more commonly seen in those individuals with bilateral angioma (p = 0.021). Significant behavioral difficulties were reported in 50% while 26% had difficulties with sleep. Difficulties with social communication, behavior, and sleep were closely associated with one another. They were not, however, significantly associated with markers of epilepsy severity and were noted to occur even in children without epilepsy. The prevalence of ASD/SCD, sleep difficulties, and behavioral disorders seen in SWS is high and reflects the complex needs of this group.

BEEC psychosocial screening at Royal Manchester Children's Hospital.

INTRODUCTION: Bladder Exstrophy and Epispadias Complex (BEEC) is associated with psychosocial difficulties. Screening questionnaires, alongside consultation with a clinical psychologist, can help identify children/young people for further assessment and track trends over time to improve service delivery. OBJECTIVE: To screen paediatric BEEC patients for a range of general psychosocial difficulties in a multi-disciplinary out-patient clinic setting and compare these results with our previous study and against published norms. STUDY DESIGN: The current service evaluation collected data at outpatient BEEC clinic appointments between 2016 and 2022 (2016-2022 sample). Children aged 4-5, 10-11 and 14-15 years and their parents/proxy were asked to complete two standardised psychosocial questionnaires: Paediatric Quality of Life Inventory (PedsQL 4.0 Generic Core and Family Impact Module) and the Strengths and Difficulties Questionnaires (SDQ). 79 children (CYP) and 93 parent/proxy (P/P) responses were recorded. The sample included paired CYP and P/P responses for the PedsQL (n = 67) and SDQ (n = 35). The mean age for CYP was 9.9 years (SD 3.99, range 2-17), 69.8% (n = 120) of responses for male children. RESULTS: The percentage of total CYP scores falling within the 'At Risk' category on the PedsQL increased in the 2016-2022 sample compared to our 2015 sample, indicating the prevalence of greater difficulties. Differences between P/P and CYP responses on both the PedsQL and SDQ favoured CYP. Age, gender, and diagnosis appeared to influence certain questionnaire responses, depending on respondent (CYP or P/P). A significant difference between P/P and CYP in the emotional domain of the PedsQL for those aged 13-18 was observed (p = 0.020), with P/P reporting greater difficulties, but this was not seen in the younger age ranges. Physical Health on the PedsQL were significantly lower for children with a cloacal exstrophy diagnosis, in comparison to bladder exstrophy and epispadias. P/P SDQ scores for boys were significantly higher in several domains. CONCLUSIONS: The results demonstrate the need for psychosocial screening, providing benchmarking for psychosocial difficulties within this patient group. Results indicate that patients accessing our clinic are reporting a higher level of challenge across psychosocial domains in recent years reflected by the percentage within the 'At Risk' category for psychosocial difficulty. Linked questionnaire data with condition specific information and surgical history would improve service evaluations. CYP reaching clinical thresholds are offered further psychological assessment within the service.