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

Allan Bayat; Hannah Grimes; Elke de Boer; Morten Krogh Herlin; Rebekka Staal Dahl; Ida Charlotte Bay Lund; Michael Bayat; Anneli Clea Skjelmose Bolund; Cathrine Elisabeth Gjerulfsen; Pernille Axél Gregersen; Monica Zilmer; Stefan Juhl; Katarzyna Cebula; Elisa Rahikkala; Isabelle Maystadt; Angela Peron; Aglaia Vignoli; Rosa Maria Alfano; Franco Stanzial; Francesco Benedicenti; Aurora Currò; Ho-Ming Luk; Guillaume Jouret; Ella Zurita; Lara Heuft; Franziska Schnabel; Andreas Busche; Hermine Elisabeth Veenstra-Knol; Tinatin Tkemaladze; Pascal Vrielynck; Damien Lederer; Konrad Platzer; Charlotte Wilhelmina Ockeloen; Himanshu Goel; Karen Jaqueline Low

doi:10.1016/j.gim.2024.101170

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

Allan Bayat, Hannah Grimes, Elke de Boer, Morten Krogh Herlin, Rebekka Staal Dahl, Ida Charlotte Bay Lund, Michael Bayat, Anneli Clea Skjelmose Bolund, Cathrine Elisabeth Gjerulfsen, Pernille Axél Gregersen, Monica Zilmer, Stefan Juhl, Katarzyna Cebula, Elisa Rahikkala, Isabelle Maystadt, Angela Peron, Aglaia Vignoli, Rosa Maria Alfano, Franco Stanzial, Francesco BenedicentiAurora Currò, Ho-Ming Luk, Guillaume Jouret, Ella Zurita, Lara Heuft, Franziska Schnabel, Andreas Busche, Hermine Elisabeth Veenstra-Knol, Tinatin Tkemaladze, Pascal Vrielynck, Damien Lederer, Konrad Platzer, Charlotte Wilhelmina Ockeloen, Himanshu Goel, Karen Jaqueline Low

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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.

Original language	English
Article number	101170
Pages (from-to)	1-9
Number of pages	9
Journal	Genetics in Medicine
Volume	26
Issue number	8
Early online date	27 May 2024
DOIs	https://doi.org/10.1016/j.gim.2024.101170
Publication status	Published - 1 Aug 2024

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© 2024 American College of Medical Genetics and Genomics

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Bayat, A., Grimes, H., de Boer, E., Herlin, M. K., Dahl, R. S., Lund, I. C. B., Bayat, M., Bolund, A. C. S., Gjerulfsen, C. E., Gregersen, P. A., Zilmer, M., Juhl, S., Cebula, K., Rahikkala, E., Maystadt, I., Peron, A., Vignoli, A., Alfano, R. M., Stanzial, F., ... Low, K. J. (2024). Natural history of adults with KBG syndrome: A physician-reported experience. Genetics in Medicine, 26(8), 1-9. Article 101170. https://doi.org/10.1016/j.gim.2024.101170

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title = "Natural history of adults with KBG syndrome: A physician-reported experience",

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.",

author = "Allan Bayat and Hannah Grimes and {de Boer}, Elke and Herlin, {Morten Krogh} and Dahl, {Rebekka Staal} and Lund, {Ida Charlotte Bay} and Michael Bayat and Bolund, {Anneli Clea Skjelmose} and Gjerulfsen, {Cathrine Elisabeth} and Gregersen, {Pernille Ax{\'e}l} and Monica Zilmer and Stefan Juhl and Katarzyna Cebula and Elisa Rahikkala and Isabelle Maystadt and Angela Peron and Aglaia Vignoli and Alfano, {Rosa Maria} and Franco Stanzial and Francesco Benedicenti and Aurora Curr{\`o} and Ho-Ming Luk and Guillaume Jouret and Ella Zurita and Lara Heuft and Franziska Schnabel and Andreas Busche and Veenstra-Knol, {Hermine Elisabeth} and Tinatin Tkemaladze and Pascal Vrielynck and Damien Lederer and Konrad Platzer and Ockeloen, {Charlotte Wilhelmina} and Himanshu Goel and Low, {Karen Jaqueline}",

note = "Publisher Copyright: {\textcopyright} 2024 American College of Medical Genetics and Genomics",

year = "2024",

month = aug,

day = "1",

doi = "10.1016/j.gim.2024.101170",

language = "English",

volume = "26",

pages = "1--9",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

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Bayat, A, Grimes, H, de Boer, E, Herlin, MK, Dahl, RS, Lund, ICB, Bayat, M, Bolund, ACS, Gjerulfsen, CE, Gregersen, PA, Zilmer, M, Juhl, S, Cebula, K, Rahikkala, E, Maystadt, I, Peron, A, Vignoli, A, Alfano, RM, Stanzial, F, Benedicenti, F, Currò, A, Luk, H-M, Jouret, G, Zurita, E, Heuft, L, Schnabel, F, Busche, A, Veenstra-Knol, HE, Tkemaladze, T, Vrielynck, P, Lederer, D, Platzer, K, Ockeloen, CW, Goel, H & Low, KJ 2024, 'Natural history of adults with KBG syndrome: A physician-reported experience', Genetics in Medicine, vol. 26, no. 8, 101170, pp. 1-9. https://doi.org/10.1016/j.gim.2024.101170

TY - JOUR

T1 - Natural history of adults with KBG syndrome

T2 - A physician-reported experience

AU - Bayat, Allan

AU - Grimes, Hannah

AU - de Boer, Elke

AU - Herlin, Morten Krogh

AU - Dahl, Rebekka Staal

AU - Lund, Ida Charlotte Bay

AU - Bayat, Michael

AU - Bolund, Anneli Clea Skjelmose

AU - Gjerulfsen, Cathrine Elisabeth

AU - Gregersen, Pernille Axél

AU - Zilmer, Monica

AU - Juhl, Stefan

AU - Cebula, Katarzyna

AU - Rahikkala, Elisa

AU - Maystadt, Isabelle

AU - Peron, Angela

AU - Vignoli, Aglaia

AU - Alfano, Rosa Maria

AU - Stanzial, Franco

AU - Benedicenti, Francesco

AU - Currò, Aurora

AU - Luk, Ho-Ming

AU - Jouret, Guillaume

AU - Zurita, Ella

AU - Heuft, Lara

AU - Schnabel, Franziska

AU - Busche, Andreas

AU - Veenstra-Knol, Hermine Elisabeth

AU - Tkemaladze, Tinatin

AU - Vrielynck, Pascal

AU - Lederer, Damien

AU - Platzer, Konrad

AU - Ockeloen, Charlotte Wilhelmina

AU - Goel, Himanshu

AU - Low, Karen Jaqueline

PY - 2024/8/1

Y1 - 2024/8/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.gim.2024.101170

DO - 10.1016/j.gim.2024.101170

M3 - Article (Academic Journal)

C2 - 38818797

SN - 1098-3600

VL - 26

SP - 1

EP - 9

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 8

M1 - 101170

ER -