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Natural history of adults with KBG syndrome: A physician-reported experience.
Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axél; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Currò, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen Jaqueline.
Afiliación
  • Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. Electronic addres
  • Grimes H; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
  • de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherl
  • Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • Dahl RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Lund ICB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
  • Bayat M; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • Bolund ACS; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • Zilmer M; Department of Child Neurology, Danish Epilepsy Center, Dianalund, Denmark.
  • Juhl S; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark.
  • Cebula K; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark.
  • Rahikkala E; Dept of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Maystadt I; Center for Human Genetics, Institute for Pathology and Genetics, Gosselies, Belgium; URPhyM, Faculty of Medicine, University of Namur, Namur, Belgium.
  • Peron A; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Experimental and Clinical Biomedical Sciences "Mario Serio," Università degli Studi di Firenze, Florence, Italy.
  • Vignoli A; Child Neuropsychiatry Unit, Grande Ospedale Metropolitano Niguarda, University of Milan, Milan, Italy.
  • Alfano RM; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.
  • Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, HKSAR, Hong Kong.
  • Jouret G; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.
  • Zurita E; Hunter Genetics, New South Wales Health, Waratah, NSW, Australia.
  • Heuft L; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Schnabel F; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Busche A; Department of Medical Genetics, University Hospital Münster, Germany.
  • Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.
  • Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.
  • Lederer D; Institute for Pathology and Genetics, 6040, Gosselies, Belgium.
  • Platzer K; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Goel H; Hunter Genetics, New South Wales Health, Waratah, NSW, Australia.
  • Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom; Centre for Academic Child Health, Bristol Medical School, University of Bristol, United Kingdom.
Genet Med ; 26(8): 101170, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38818797
ABSTRACT

PURPOSE:

KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the clinical features of KBGS.

METHODS:

We collected physician-reported data of adults with molecularly confirmed KBGS through an international collaboration. Moreover, we undertook a systematic literature review to determine the scope of previously reported data.

RESULTS:

The international collaboration identified 36 adults from 31 unrelated families with KBGS. Symptoms included mild/borderline intellectual disability (n = 22); gross and/or fine motor difficulties (n = 15); psychiatric and behavioral comorbidities including aggression, anxiety, reduced attention span, and autistic features (n = 26); nonverbal (n = 3), seizures with various seizure types and treatment responses (n = 10); ophthalmological comorbidities (n = 20). Cognitive regression during adulthood was reported once. Infrequent features included dilatation of the ascending aorta (n = 2) and autoimmune conditions (n = 4). Education, work, and residence varied, and the diversity of professional and personal roles highlighted the range of abilities seen. The literature review identified 154 adults reported across the literature, and we have summarized the features across both data sets.

CONCLUSION:

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.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Discapacidad Intelectual Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Discapacidad Intelectual Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article