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First episode of psychosis in Kleefstra syndrome: a case report
- Source :
- Neurocase. 27:227-230
- Publication Year :
- 2021
- Publisher :
- Informa UK Limited, 2021.
-
Abstract
- Kleefstra syndrome (KS) is a genetic syndrome caused by a haploinsufficiency of the EHMT1 gene and characterized by intellectual disability, language disorders, childhood hypotonia and distinct facial features. Only a few cases of first episode of psychosis in KS have already been reported. We describe a young female patient with KS who presented a first episode of psychosis. In a context of an initial diagnosis wavering and a lack of recommendations, this clinical observation illustrates the importance of psychiatric comorbidities and their diagnostic and therapeutic complexity in KS; with a need for multidisciplinary management considering its specific aspects and vulnerabilities.
- Subjects :
- Heart Defects, Congenital
medicine.medical_specialty
Psychosis
Context (language use)
050105 experimental psychology
Craniofacial Abnormalities
03 medical and health sciences
EHMT1
0302 clinical medicine
Arts and Humanities (miscellaneous)
Intellectual Disability
Intellectual disability
medicine
Humans
0501 psychology and cognitive sciences
Child
Psychiatry
Kleefstra Syndrome
First episode
business.industry
05 social sciences
Histone-Lysine N-Methyltransferase
medicine.disease
Hypotonia
Psychotic Disorders
Female
Neurology (clinical)
Chromosome Deletion
medicine.symptom
Chromosomes, Human, Pair 9
Haploinsufficiency
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14653656 and 13554794
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Neurocase
- Accession number :
- edsair.doi.dedup.....1f71a7c444be449b3fd1d93fd4b50c98