Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report

Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric cr...

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Published inFrontiers in psychiatry Vol. 15; p. 1502773
Main Authors Geiser, Marie, Good, Jean-Marc, Guinchat, Vincent
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 04.12.2024
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ISSN1664-0640
1664-0640
DOI10.3389/fpsyt.2024.1502773

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Abstract Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric crisis unit dedicated to mental disabilities for challenging behavior such as self-aggression (forceful vomiting, scratching himself, pulling out his toe and fingernails or banging his head against the wall), agitation, screaming, dropping to the ground, damaging electronic items, or even displaying hetero-aggressive gestures (trying to bite or pull hair, scratching, kicking, or punching) associated with a drop in mood, withdrawal from usual activities, a drop in social interaction and a tendency to doze off during the day. The introduction of Pregabalin leads to rapid stabilization of the clinical state, almost complete improvement in challenging behavior and gradual withdrawal of other treatments (class 2 analgesics, neuroleptics, antidepressants, and benzodiazepines). At the neurological check-up 9 months after discharge from hospital, clinical stability was confirmed by the surrounding team and the medical observation, with almost complete disappearance of auto-aggressive gestures.
AbstractList Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric crisis unit dedicated to mental disabilities for challenging behavior such as self-aggression (forceful vomiting, scratching himself, pulling out his toe and fingernails or banging his head against the wall), agitation, screaming, dropping to the ground, damaging electronic items, or even displaying hetero-aggressive gestures (trying to bite or pull hair, scratching, kicking, or punching) associated with a drop in mood, withdrawal from usual activities, a drop in social interaction and a tendency to doze off during the day. The introduction of Pregabalin leads to rapid stabilization of the clinical state, almost complete improvement in challenging behavior and gradual withdrawal of other treatments (class 2 analgesics, neuroleptics, antidepressants, and benzodiazepines). At the neurological check-up 9 months after discharge from hospital, clinical stability was confirmed by the surrounding team and the medical observation, with almost complete disappearance of auto-aggressive gestures.Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric crisis unit dedicated to mental disabilities for challenging behavior such as self-aggression (forceful vomiting, scratching himself, pulling out his toe and fingernails or banging his head against the wall), agitation, screaming, dropping to the ground, damaging electronic items, or even displaying hetero-aggressive gestures (trying to bite or pull hair, scratching, kicking, or punching) associated with a drop in mood, withdrawal from usual activities, a drop in social interaction and a tendency to doze off during the day. The introduction of Pregabalin leads to rapid stabilization of the clinical state, almost complete improvement in challenging behavior and gradual withdrawal of other treatments (class 2 analgesics, neuroleptics, antidepressants, and benzodiazepines). At the neurological check-up 9 months after discharge from hospital, clinical stability was confirmed by the surrounding team and the medical observation, with almost complete disappearance of auto-aggressive gestures.
Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric crisis unit dedicated to mental disabilities for challenging behavior such as self-aggression (forceful vomiting, scratching himself, pulling out his toe and fingernails or banging his head against the wall), agitation, screaming, dropping to the ground, damaging electronic items, or even displaying hetero-aggressive gestures (trying to bite or pull hair, scratching, kicking, or punching) associated with a drop in mood, withdrawal from usual activities, a drop in social interaction and a tendency to doze off during the day. The introduction of Pregabalin leads to rapid stabilization of the clinical state, almost complete improvement in challenging behavior and gradual withdrawal of other treatments (class 2 analgesics, neuroleptics, antidepressants, and benzodiazepines). At the neurological check-up 9 months after discharge from hospital, clinical stability was confirmed by the surrounding team and the medical observation, with almost complete disappearance of auto-aggressive gestures.
Author Good, Jean-Marc
Guinchat, Vincent
Geiser, Marie
AuthorAffiliation 2 Ecole de médecine, Université de Lausanne , Lausanne, Vaud , Switzerland
1 Département de Psychiatrie, Centre Hospitalier Universitaire Vaudois (CHUV) , Lausanne , Switzerland
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10.3389/fphys.2020.00075
10.4088/PCC.20m02783
10.1016/j.tig.2017.06.002
10.3389/fncel.2020.00083
10.1101/cshperspect.a026526
10.1523/JNEUROSCI.0851-11.2012
10.1016/j.coph.2005.11.003
10.1002/cpdd.v7.3
10.1186/gm415
10.1038/ejhg.2016.165
10.1002/ajmg.a.v191.1
10.3389/fnmol.2021.674914
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Keywords epilepsy
anxiety
pregabalin (PGB)
Bainbridge-Ropers syndrome
ASXL3
autism
Language English
License Copyright © 2024 Geiser, Good and Guinchat.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
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References Sills (B13) 2006; 6
B10
Micol (B7) 2016; 6
Alles (B12) 2020; 14
Marangoudakis (B15) 2012; 32
Lichtig (B6) 2020; 11
B2
Balasubramanian (B9) 1993
Srivastava (B8) 2017; 33
Cheng (B14) 2021; 14
Kuechler (B4) 2017; 25
Bainbridge (B1) 2013; 5
Ikekwere (B3) 2021; 23
Greenblatt (B11) 2018; 7
Schirwani (B5) 2023; 191
References_xml – ident: B2
  doi: 10.1007/978-3-319-66816-1_212-1
– volume: 11
  start-page: 75
  year: 2020
  ident: B6
  article-title: Modeling bainbridge-ropers syndrome in xenopus laevis embryos
  publication-title: Front Physiol
  doi: 10.3389/fphys.2020.00075
– volume: 23
  start-page: 34115
  year: 2021
  ident: B3
  article-title: Comorbid psychiatric aspects of bainbridge-ropers syndrome
  publication-title: Prim Care Companion CNS Disord
  doi: 10.4088/PCC.20m02783
– volume: 33
  year: 2017
  ident: B8
  article-title: Histone H2A monoubiquitination in neurodevelopmental disorders
  publication-title: Trends Genet
  doi: 10.1016/j.tig.2017.06.002
– volume: 14
  start-page: 83
  year: 2020
  ident: B12
  article-title: Pregabalin as a pain therapeutic: beyond calcium channels
  publication-title: Front Cell Neurosci
  doi: 10.3389/fncel.2020.00083
– volume: 6
  start-page: a026526
  year: 2016
  ident: B7
  article-title: The role of additional sex combs-like proteins in cancer
  publication-title: Cold Spring Harb Perspect Med
  doi: 10.1101/cshperspect.a026526
– ident: B10
– volume: 32
  year: 2012
  ident: B15
  article-title: Differential ubiquitination and proteasome regulation of caV2.2 N-type channel splice isoforms
  publication-title: J Neurosci
  doi: 10.1523/JNEUROSCI.0851-11.2012
– volume: 6
  year: 2006
  ident: B13
  article-title: The mechanisms of action of gabapentin and pregabalin
  publication-title: Curr Opin Pharmacol
  doi: 10.1016/j.coph.2005.11.003
– volume: 7
  year: 2018
  ident: B11
  article-title: Gabapentin and pregabalin for the treatment of anxiety disorders
  publication-title: Clin Pharmacol Drug Dev
  doi: 10.1002/cpdd.v7.3
– volume: 5
  start-page: 11
  year: 2013
  ident: B1
  article-title: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
  publication-title: Genome Med
  doi: 10.1186/gm415
– volume: 25
  year: 2017
  ident: B4
  article-title: Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
  publication-title: Eur J Hum Genet
  doi: 10.1038/ejhg.2016.165
– volume: 191
  start-page: 29
  year: 2023
  ident: B5
  article-title: Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.v191.1
– volume: 14
  start-page: 674914
  year: 2021
  ident: B14
  article-title: Role of the ubiquitin system in chronic pain
  publication-title: Front Mol Neurosci
  doi: 10.3389/fnmol.2021.674914
– volume-title: GeneReviews
  year: 1993
  ident: B9
  article-title: ASXL3-related disorder
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SubjectTerms anxiety
ASXL3
autism
Bainbridge-Ropers syndrome
epilepsy
pregabalin (PGB)
Psychiatry
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Title Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report
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