Laura de Groot, Anna T van 't Noordende, Mathias Duck, Joshua Oraga, Sarju Sing Rai, Ruth M H Peters, Nienke Veldhuijzen
Meaningful Engagement of Persons Affected by Leprosy in Research: An Exploration of Its Interpretation, Barriers, and Opportunities
Tropical medicine and infectious disease
characterize neurodevelopmental profile patients phelanmcdermid syndrome pms describe nature trajectory regression retrospective monocentric study examining clinical developmental data 24 patients average age 25 years 6 months range 656 years n 13 males confirmed 22q133 terminal deletion carried centre human genetics university hospital leuven neurodevelopmental profile individuals pms examined combining crosssectional longitudinal data obtained systematic review digital medical records remarkable loss skills present 19 individuals affecting language motor skills first manifestations neurodevelopmental regression occurred average age 7 years 6 months range 511 years language skills active vocabulary primarily affected followed order loss psychosocial adaptability fine motor skills walking ability course regression characterized distinctive fourstage pattern first stage often occurred around midchildhood defined pronounced abrupt decline language skills stage generally followed second stage prolonged period stagnation regression seen third stage defined acute neuropsychiatric decline eg catatonia hallucinations psychosis acute events severe sickness hormonal shifts psychosocial stress frequently preceded fourth final stage characterized severe neuromotor degeneration neurodevelopmental regression considered key feature pms present fourstage model neurodevelopmental regression entailing language skills fine gross motor function psychosocial adaptation applied future practice research