Behavioural and neurodevelopmental characteristics of SYNGAP1.

BACKGROUND: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. METHODS: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. RESULTS: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15). CONCLUSION: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management.

What contributes to good outcomes? The perspective of young people on short-term psychoanalytic psychotherapy for depressed adolescents.

Depression is the fourth leading cause of adolescent illness and disability worldwide. A growing evidence base demonstrates that Short Term Psychoanalytic Psychotherapy [STPP] is an efficacious treatment for moderate to severe adolescent depression. However, with research in its infancy, key factors contributing to efficacy are unknown. Service users' lived experiences provide valuable insight in this area. This study aimed to elucidate what adolescents value in treatment by inductively exploring lived experiences of STPP. Five adolescents with the largest reduction in depressive symptoms scores between baseline and end of treatment, who had taken part in a large-scale randomized controlled trial, were sampled. In-depth interviews carried out soon after the end of therapy were analysed using Interpretative Phenomenological Analysis. Three superordinate themes were identified: "Therapy as a Transformational Process", "Explorative and Exposing: The Therapeutic Space" and "Being Heard and Working Together: The Therapeutic Relationship". Adolescents valued a process of collaborative exploration with the therapist which when it was achieved was felt to facilitate a deep-rooted transformation in self-perception. Additionally, they described how an adjustment was needed to the particular frame of a psychoanalytic therapy. However, not all participants with a good treatment outcome experienced therapy in this way, suggesting a potential gap between the quantitative assessment of outcomes, and the way young people experience and understand the change process. Clinical implications and directions for research are discussed.