About 1 in 650-1000 children are born with a 47,XXY, 47,XXX or 47,XYY chromosomal pattern (i.e, sex chromosome trisomies, SCT). The presence of SCT is associated with an increased risk for... Show moreAbout 1 in 650-1000 children are born with a 47,XXY, 47,XXX or 47,XYY chromosomal pattern (i.e, sex chromosome trisomies, SCT). The presence of SCT is associated with an increased risk for neurodevelopmental difficulties across the life-span. Studying neurodevelopment in early childhood in children with SCT could signal deviations in development that serve as risk markers to guide clinical care. This thesis explored the development of self-regulation (emotion, cognition, and behavior) in SCT children and population-based controls, aged 1 to 7 years, who participated in the TRIXY Early Childhood Study. Behavioral symptoms were assessed through structured behavioral observation and parental questionnaires. Neurocognition was measured using performance tests and psychophysiological measures of arousal. Outcomes showed behavioral symptoms of psychopathology and neurocognitive vulnerabilities, already from an early age. Difficulties in self-regulation tended to become more pronounced with increasing age and were rather robust; independent of karyotype, pre/postnatal diagnosis, or intelligence-levels. A developmental neurocognitive perspective is key in increasing our knowledge of gene-brain-behavior pathways in SCT as well as advancing clinical care (diagnostics and treatment). Self-regulation amongst other neurocognitive functions may serve as a valuable target for early, tailor-made interventions to minimize the risk for psychopathology later in life and improving quality of life. Show less
This thesis describes the impact of Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) on early social cognition. Individuals with SCT have an increased vulnerability for developing challenges on the... Show moreThis thesis describes the impact of Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) on early social cognition. Individuals with SCT have an increased vulnerability for developing challenges on the social domain, given the convergent impact of the X and Y chromosome on brain networks that underly social adaptive development. We found that already from a very early age on, SCT can be associated with increased risk for vulnerabilities in social interactions, and with increased levels of social impairments associated with ASD. These findings suggest that SCT impact the maturation of the social brain already from an early age, and stresses the importance of early routine monitoring and (preventive) support of early social development in young children with SCT. Show less
The societal toll and human misery associated with mental health disorders is well established. Nonetheless, only about one in five minors with mental health difficulties access adequate... Show moreThe societal toll and human misery associated with mental health disorders is well established. Nonetheless, only about one in five minors with mental health difficulties access adequate professional support. Care pathways and procedures have to facilitate timely recognition and adequate evaluation of patients’ needs to navigate those who can benefit towards ‘the right service in the right place, at the right time, and delivered by the right person’ - a meaningful Chinese proverb often used by authors from the field of healthcare. To reach this meaningful goal, professionals should be able to ‘look’ at a patient and ‘see’ patients’ needs. This by relying on their sufficient knowledge to recognize a probable mental health need, their skills and experience to enquire further, known methods to reliably assess strengths and weaknesses, and readily available resources to translate what they see into an adequate support or management plan. In this PhD thesis we present a series of studies aimed to fill gaps in empirical knowledge on this topic of recognition, assessment, and referral of youth with mental health problems at the interface of primary care and mental healthcare. The results of the studies could inform clinicians on the status quo considering recognition and referral of minors with mental health problems. Moreover, the findings could serve policy and curriculum makers, thereby improving effective practices in child and adolescent mental healthcare. Show less
