Craniofacial malformations and psychiatric disorders from a neurodevelopmental perspective

Sammanfattning: Orofacial clefts (OFC) and craniosynostosis (CS) are the two most common craniofacial malformations. Of note, craniofacial abnormalities share some overlapping risk factors with psychiatric disorders. Thus, this thesis aimed to study psychiatric and educational outcomes in this group.In study I and III we examined psychiatric outcomes among children with nonsyndromic OFC stratified on cleft lip (CL), cleft lip and palate (CLP), cleft palate only (CPO), unilateral and bilateral CL and CLP. In study II we studied associations between nonsyndromic CS (NSCS) and psychiatric disorders. Study IV assessed national standardised tests in Swedish and mathematics, school grades and university degrees in children with CL, CLP and CPO. Children with craniofacial malformations were identified through the Swedish National Patient Register and compared to a cohort from the general population that was matched for month and year of birth, sex and county of birth. In addition, children with craniofacial malformations were compared to their unaffected siblings.Individuals with OFC presented risk increases for intellectual disability, language disorders, psychosis, autism spectrum disorder, attention-deficit/hyperactivity disorder and behavioural disorders in childhood. CPO showed the most robust associations, followed in descending order by CLP and CL. Nonaffected siblings had a lower risk of psychiatric disorders. Females generally had higher risks for psychiatric comorbidity (Study I).Children with bilateral clefts had higher risk increases for psychiatric disorders compared to children with unilateral clefts. We also found that females with bilateral CLP showed higher risks for intellectual disability and neurodevelopmental disorders compared to males with bilateral CLP (Study III).Risk increases for any psychiatric disorder including intellectual disability, language disorders, other neurodevelopmental disorders and other psychiatric disorders, were seen in individuals with NSCS. In the crude analyses full siblings with NSCS, as compared to nonaffected siblings, were more likely to be diagnosed with any psychiatric disorder, intellectual disability, language disorders and other neurodevelopmental disorders. The higher risk for any psychiatric disorder and intellectual disability remained after adjusting for confounders. Females displayed borderline higher risk increases than males (Study II).Finally, children with OFC had lower school performance almost throughout the educational years, especially in mathematics. Lower academic achievement was most evident in children with OFC without a concurrent psychiatric disorder. In the ninth school year and upper secondary school female academic outcomes were more negatively affected than male academic outcomes (Study IV).In summary, craniofacial malformations were associated with increased risks for multiple psychiatric disorders and lower academic achievement.