Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

• DOI: 10.1111/dmcn.14055
• Publication Date: 2018-10-09T10:32:17Z
• Authors: Irene Toldo; Valeria Brasson; Marina Miscioscia; Maria Federica Pe...; Renzo Manara; Stefano Sartori; Giulia Mantegazza; Marilena Vecchi; Margherita Nosadini; Michela Gatta
• Keywords: CBCL; Pervasive developmental disorder

We aimed to study tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children and adolescents with sclerosis complex (TSC).Retrospective prospective cohort conducted at a Paediatric Neurology Unit of an Italian Tertiary Care Hospital. Clinical neuroimaging data were reviewed. Scores for neurological epilepsy outcomes (Extended Glasgow Outcome Scale, Version Early Childhood Epilepsy Severity Scale modified), semi-structured interviews (authorized version the TAND checklist Vineland Adaptive Behavior Scales) questionnaires (Child Checklist [CBCL]) applied last follow-up.Thirty-two patients TSC (age range 1-19y) enrolled. Eighty-eight per cent had least one 47% intellectual disability. The showed internalizing problems 25.8% cases (vs 41.9% by CBCL), externalizing 9.7% CBCL). prevailed de novo mutation TSC2, high tuber load, severe outcomes.In our cohort, 78% more than four behavioural problems; nevertheless, they did not show constant specific profile. Clinical, neurophysiological, neuroradiological features associated several TAND. appeared effective CBCL, particularly detecting problems.The Tuberous is tool screening. helps define psychopathological aspects paediatric (TSC). found 88% TSC, whilst distribution depends on different clinical features.