Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.

Brunner syndrome is a recessive X-linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5-year-old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating. Whole exome sequencing allowed detection of the maternally-inherited variant c.410A>G, (p.Glu137Gly) in the MAOA gene. The subsequent biochemical studies confirmed the MAOA deficiency both in the child and his mother. Given the serotonergic symptoms associated with high serotonin levels found in the mother, treatment with a serotonin reuptake inhibitor and dietary modifications were carried out, resulting in regression of the biochemical abnormalities and partial reduction of symptoms. Our report expands the phenotypic spectrum of Brunner disease, bringing new perspectives on the behavioral and neurodevelopmental phenotype from childhood to adulthood.

"Sink or swim": mothers' experiences of extremely preterm infants after 15 years from birth.

OBJECTIVES: To evaluate the experience of parenting a preterm infant from birth to adolescence and to raise awareness of the complexity of premature birth and the child's subsequent developmental journey for the entire family. STUDY DESIGN: A phenomenological, qualitative approach using semi-structured interviews with open-ended questions was adopted to obtain retrospective, in-depth narratives. Seven mothers of adolescents born preterm with extremely low birth weight (ELBW) and admitted to a neonatal intensive care unit (NICU) participated in the study. Interviews were conducted by a trained researcher in qualitative methods, and independent coders performed data analysis. RESULTS: Three phases and eight core themes, chronologically organized, emerged from the thematic analysis: starting from preterm birth (panic, fear and uncertainty; hope and a positive attitude to the future; altered parental role), transitioning to life after hospitalization (fatigue and worry about an uncertain future; need of support), and extending into adolescence (adolescents' fragility; overprotection; post-traumatic personal growth). CONCLUSIONS: The birth of a preterm baby has significant repercussions for the entire family, not only in the period immediately following birth but also for many years afterwards, as the traumatic event is retraced with memories that remain both painful and vivid. These findings should be acknowledged by professionals working in the NICU to foster the development of targeted interventions that help parents build resilience, including from a personal growth perspective.