Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series.
DSM
RDoC
cognition
development
psychiatry
rare disease
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
29
02
2020
revised:
22
04
2020
accepted:
08
05
2020
entrez:
17
3
2021
pubmed:
18
3
2021
medline:
18
3
2021
Statut:
epublish
Résumé
Inherited metabolic disorders (IMDs) can present with psychiatric signs that vary widely from one disease to another. This picture is further complicated by the fact that these features occur at very different illness time points, which may further delay appropriate diagnosis and treatment. In this case series of 62 children and adolescents suffering from IMDs, we clustered psychiatric signs (on the basis of the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders classification) as well as impaired cognitive domains (on the basis of the Research Domain Criteriamatrix) according to their mean age of onset (5.7 ± 4 years). We observed consistent patterns of occurrence across disorders. Externalizing symptoms, sleep problems, and cross-domain self-regulation deficits were found to precede the IMD diagnosis. Repetitive thoughts and behaviors as well as emotional dysregulation were found to occur around the disease onset. Finally, late-onset features included dissociative or eating disorders, together with impaired emotion knowledge. Clinicians should specifically look for the co-occurrence of age-specific atypical signs, such as treatment resistance or worsening with psychotropic medication in the earliest stages and symptom fluctuation, confusion, catatonia, or isolated visual hallucinations. We believe that the combined characterizations of psychiatric signs and impaired neurocognitive domains may enable the earliest detection of IMDs and the appropriate care of these particular manifestations. Psychiatric signs are common in inherited metabolic disorders (IMDs) and may occur in the same age-range as other clinical manifestations.Three clusters of psychiatric signs and two clusters of neurocognitive domains can be defined according to their mean age of onset.Warning signs to be used in liaison psychiatry should include age-specific cognitive impairments.
Identifiants
pubmed: 33728244
doi: 10.1002/jmd2.12133
pii: JMD212133
pmc: PMC7932863
doi:
Types de publication
Journal Article
Langues
eng
Pagination
29-36Informations de copyright
© 2020 The Authors. JIMD published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no potential conflict of interest.
Références
Adv Neurol. 1995;65:171-8
pubmed: 7872138
J Inherit Metab Dis. 2007 Nov;30(6):943-51
pubmed: 17994284
Pediatrics. 2018 Nov;142(5):
pubmed: 30381472
J Am Acad Child Adolesc Psychiatry. 2018 Jul;57(7):518-525.e1
pubmed: 29960699
World J Biol Psychiatry. 2019 Apr;20(4):320-332
pubmed: 29457916
J Glob Health. 2018 Dec;8(2):021102
pubmed: 30479748
Mol Genet Metab. 2020 May;130(1):1-6
pubmed: 32122747
J Inherit Metab Dis. 2007 Oct;30(5):631-41
pubmed: 17694356
J Child Psychol Psychiatry. 2018 Jan;59(1):68-75
pubmed: 28699661
JIMD Rep. 2019 Dec 10;51(1):70-75
pubmed: 32071841
J Inherit Metab Dis. 2000 Feb;23(1):2-6
pubmed: 10682302
J Intellect Disabil Res. 2005 Nov;49(Pt 11):865-71
pubmed: 16207285
Genet Med. 2019 Aug;21(8):1827-1831
pubmed: 30643218
Transl Psychiatry. 2013 Sep 03;3:e302
pubmed: 24002088
Arch Gen Psychiatry. 1989 Dec;46(12):1126-34
pubmed: 2589927
Schizophr Res. 2016 Oct;176(2-3):378-386
pubmed: 27377978
Biol Psychiatry. 1987 Nov;22(11):1375-87
pubmed: 3311181
Nat Med. 2019 Oct;25(10):1477-1487
pubmed: 31548702
Schizophr Res. 2018 Feb;192:39-49
pubmed: 28526280
J Neurol. 2014 Sep;261 Suppl 2:S559-68
pubmed: 25145892
Prog Neuropsychopharmacol Biol Psychiatry. 2008 Aug 1;32(6):1393-8
pubmed: 18417262
Schizophr Res. 2018 Oct;200:68-76
pubmed: 28659239
Eur J Hum Genet. 2020 Feb;28(2):165-173
pubmed: 31527858
Am J Psychiatry. 2014 Apr;171(4):395-7
pubmed: 24687194
JIMD Rep. 2019;44:109-114
pubmed: 30187371
Dev Psychopathol. 2019 Oct;31(4):1557-1574
pubmed: 30719962
Pediatr Res. 2009 Jul;66(1):96-101
pubmed: 19287347
J Intellect Disabil Res. 2005 Jan;49(Pt 1):25-32
pubmed: 15634309