Natural history of adults with KBG syndrome: A physician-reported experience.

Allan BayatHannah GrimesElke de BoerMorten Krogh HerlinRebekka Staal DahlIda Charlotte Bay LundMichael BayatAnneli Clea Skjelmose BolundCathrine Elisabeth GjerulfsenPernille Axél GregersenMonica ZilmerStefan JuhlKatarzyna CebulaElisa RahikkalaIsabelle MaystadtAngela PeronAglaia VignoliRosa Maria AlfanoFranco StanzialFrancesco BenedicentiAurora CurròHo-Ming LukGuillaume JouretElla ZuritaLara HeuftFranziska SchnabelAndreas BuscheHermine Elisabeth Veenstra-KnolTinatin TkemaladzePascal VrielynckDamien LedererKonrad PlatzerCharlotte Wilhelmina OckeloenHimanshu GoelKaren Jaqueline Low

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2024)

Our study sheds light on the long-term neurodevelopmental outcomes, seizures, behavioral and psychiatric features, and education, work, and living arrangements for adults with KBGS.

Keyphrases

healthcare
primary care
emergency department
mental health
quality improvement
case report
metabolic syndrome
skeletal muscle
insulin resistance
glycemic control