Developmental aspects of FXAND in a man with the FMR1 premutation.
FMR1
ASD
FXAND
Fragile X
Premutation
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
13
08
2019
accepted:
23
10
2019
pubmed:
4
1
2020
medline:
27
3
2021
entrez:
4
1
2020
Statut:
ppublish
Résumé
Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella term of Fragile X-associated Neuropsychiatric Disorders (FXAND) and is separate from Fragile X-associated Tremor/Ataxia syndrome (FXTAS), a neurodegenerative disorder. A 26-year-old Caucasian male with the Fragile X premutation who presented with multiple behavior and emotional problems including depression and anxiety at 10 years of age. He was evaluated at 13, 18, and 26 years old with age-appropriate cognitive assessments, psychiatric evaluations, and an MRI of the brain. The Autism Diagnostic Observation Scale (ADOS) was done at 13 years old and showed the patient has autism spectrum disorder (ASD). An evaluation at 18 years old showed a full-scale IQ of 64. A Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS) performed at 26 years old confirmed the previous impression of social anxiety disorder, agoraphobia disorder, and selective mutism. His MRI acquired at 26 years old showed enlarged ventricles, increased frontal subarachnoid spaces, and hypergyrification. This is an exemplary case of an FMR1 premutation carrier with significant psychiatric and cognitive issues that demonstrates Fragile X-associated Neuropsychiatric Disorders (FXAND) as separate from the other well-known premutation disorders.
Sections du résumé
BACKGROUND
Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella term of Fragile X-associated Neuropsychiatric Disorders (FXAND) and is separate from Fragile X-associated Tremor/Ataxia syndrome (FXTAS), a neurodegenerative disorder.
METHODS/CLINICAL CASE
A 26-year-old Caucasian male with the Fragile X premutation who presented with multiple behavior and emotional problems including depression and anxiety at 10 years of age. He was evaluated at 13, 18, and 26 years old with age-appropriate cognitive assessments, psychiatric evaluations, and an MRI of the brain.
RESULTS
The Autism Diagnostic Observation Scale (ADOS) was done at 13 years old and showed the patient has autism spectrum disorder (ASD). An evaluation at 18 years old showed a full-scale IQ of 64. A Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS) performed at 26 years old confirmed the previous impression of social anxiety disorder, agoraphobia disorder, and selective mutism. His MRI acquired at 26 years old showed enlarged ventricles, increased frontal subarachnoid spaces, and hypergyrification.
CONCLUSION
This is an exemplary case of an FMR1 premutation carrier with significant psychiatric and cognitive issues that demonstrates Fragile X-associated Neuropsychiatric Disorders (FXAND) as separate from the other well-known premutation disorders.
Identifiants
pubmed: 31899609
doi: 10.1002/mgg3.1050
pmc: PMC7005639
doi:
Substances chimiques
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1050Subventions
Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD079125
Pays : United States
Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Références
Am J Med Genet A. 2008 Aug 15;146A(16):2060-9
pubmed: 18570292
Nat Rev Neurol. 2016 Jul;12(7):403-12
pubmed: 27340021
Front Genet. 2018 Aug 27;9:338
pubmed: 30210529
Neuroimage. 2002 Nov;17(3):1365-72
pubmed: 12414276
Cerebellum. 2016 Oct;15(5):578-86
pubmed: 27287737
Mol Genet Genomic Med. 2020 Feb;8(2):e1050
pubmed: 31899609
J Neurophysiol. 2013 Mar;109(5):1315-22
pubmed: 23236003
Brain Res. 2006 Nov 22;1121(1):238-45
pubmed: 17046729
Neuroimage. 1999 Feb;9(2):195-207
pubmed: 9931269
Hum Genet. 2012 Apr;131(4):581-9
pubmed: 22001913
Psychol Med. 2018 Sep;48(12):2001-2010
pubmed: 29239286
Neuroimage. 1999 Feb;9(2):179-94
pubmed: 9931268
Intractable Rare Dis Res. 2015 Aug;4(3):123-30
pubmed: 26361563
Intractable Rare Dis Res. 2014 Nov;3(4):162-5
pubmed: 25606366
Curr Psychiatry Rev. 2013;9(1):59-64
pubmed: 25620899
Hum Mol Genet. 2011 Jan 1;20(1):64-79
pubmed: 20935171
World Neurosurg. 2018 Mar;111:279-290
pubmed: 29269062
Neuroimage. 2011 Apr 1;55(3):968-85
pubmed: 21237273
Genes Brain Behav. 2012 Jul;11(5):577-85
pubmed: 22463693
J Dev Behav Pediatr. 2006 Apr;27(2 Suppl):S137-44
pubmed: 16685180
IEEE Trans Med Imaging. 2008 Feb;27(2):161-70
pubmed: 18334438
Neurobiol Aging. 2017 Jul;55:11-19
pubmed: 28391068
Mol Med. 2016 Oct;22:548-559
pubmed: 27385396
Hum Mol Genet. 2010 Jan 1;19(1):196-208
pubmed: 19846466
PLoS One. 2013 Jun 18;8(6):e65591
pubmed: 23824159
PLoS One. 2016 May 23;11(5):e0156123
pubmed: 27213683
JCI Insight. 2018 Jul 12;3(13):
pubmed: 29997300
Inf Process Med Imaging. 2013;23:548-59
pubmed: 24683998
Lancet Neurol. 2013 Aug;12(8):786-98
pubmed: 23867198
J Hum Genet. 2018 Apr;63(4):509-516
pubmed: 29379191