Clinical presentation and longitudinal follow-up of ESSENCE

Overview

The focus of this research programme is on the “clinical picture” of the functional conditions within ESSENCE and to follow these clinical groups over time to get an idea of ​​the prognosis. We are, among other things, interested in symptom and functional development, medical and psychiatric comorbidity, cognition, quality of life, prognostic childhood factors for outcome in adulthood.

Earlier projects

Over the years we have reported in several studies the clinical presentation of ESSENCE in children in Sweden. Projects within this research programme, among others, are the Gothenburg Autism Project which included individuals who got an autism diagnosis in childhood (in the 70s and 80s) and were followed up into adulthood. During this decades, the clear majority who received these diagnoses were boys, which is reflected in the study group. Another project however, the Girl Project, focused on girls with ESSENCE.  This study included girls who were referred before the age of 18 years  for social interaction problems and concentration difficulties. The AUDIE-project  (AUtism Detection and Intervention in Early life) was started at the Child Neuropsychiatry Clinic (CNC) in collaboration with the Child Health Centre (CHC) and habilitation centres in Gothenburg  between 2009-2011. Using language and autism screening of all 2,5-year-old children at CHC, more than 100 children were identified and diagnosed with ASD, Language Disorder and another ESSENCE disorder. These children were also followed up at age 5 and 8 years with diagnostic stability being the focus.

In all studies in-depth psychiatric and psychological examinations were performed on the groups in childhood.

Current projects

Participants in the Girl Project are currently being followed up, circa 20 years after the previous study, by taking part in a psychiatric examination and a follow-up of their psychosocial situation.

We are also following up a study group with 22q11 deletion syndrome who in childhood took part in a study which involved psychiatric and psychological mapping. In the current follow-up participants over 18 years of age are invited to a renewed psychiatric and cognitive evaluation as well as an evaluation of support requirements.

In a doctoral project, we examine the relationship between cognition and behaviour, for example, whether symptoms of lack of executive function increase in relation to increased ADHD symptoms of 7-year-old participations in a population-based study on Karlstad. This project is conducted within the framework of the SELMA study and in collaboration in Karlstad university. In another doctoral study, we study parental stress and experience of traumatic life events in families with children with ESSENCE. Both parents and children have been interviewed regarding this, with the aim of increasing knowledge regarding how it is to live with such disabilities and to investigate factors which can increase stress and vulnerability in this group.

In addition to projects aimed at children, we currently have several ongoing projects that include adults in adult psychiatry in Stockholm and in Helsingborg who only in adulthood were diagnosed as having an ESSENCE condition. To increase knowledge about ESSENCE in other patient groups, we have two ongoing projects concerning children with cerebral palsy and with fetal alcohol syndrome. In an ongoing doctoral project on language disorder and ESSENCE, we follow 100 children with outcomes from the 2.5 years  language screening, but not in the autism screening, to study developmental profiles,  quality of life, and the connection between these. In another doctoral project, we examine the possible impact of PFAS on children's linguistic and cognitive development.

In addition to projects in Sweden, a collaborative project with the Neurodiversity Center and Ukwanda Campus, at the Stellenbosch University, South Africa has now started, which includes the testing of the screening form ESSENCE-Q in a socially vulnerable area in Breede Valley, South Africa. The study will also result in knowledge of the occurence of ESSENCE in this area.

Future projects

We are planning follow-ups of the cohorts that have entered into the Gothenburg Autism Project. This means up to 40 years of follow-up, which in an international perspective is unique. We also intend to follow up the participants in the AUDIE project when they are are adolescents.