Phelan-McDermid syndrome: Clinical report of a 70-year-old woman

Autor: Jos I. M. Egger, Sarina G. Kant, Willem M.A. Verhoeven, Ruthy Cohen-Snuijf, Nicole de Leeuw
Přispěvatelé: Psychiatry
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Pediatrics
medicine.medical_specialty
22q13.3 deletion syndrome
Chromosomes
Human
Pair 22
Developmental Disabilities
Chromosome Disorders
Nerve Tissue Proteins
Lithium
Mitochondrial Proteins
Experimental Psychopathology and Treatment
Clinical report
Phelan-McDermid syndrome
Intellectual Disability
Intellectual disability
Genetics
Medicine
Choline Kinase
Humans
SHANK3
Genetics (clinical)
Aged
Thymidine Phosphorylase
Neuro- en revalidatiepsychologie
Adult patients
business.industry
Neuropsychology and rehabilitation psychology
Histone-Lysine N-Methyltransferase
Plasticity and Memory [DI-BCB_DCC_Theme 3]
atypical bipolar disorder
psychopathological phenotype
medicine.disease
Butyrophenones
Hypotonia
Carbamazepine
Phenotype
Autism spectrum disorder
Etiology
Muscle Hypotonia
Female
medicine.symptom
Chromosome Deletion
business
Carrier Proteins
Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
Psychopathology
Follow-Up Studies
Molecular Chaperones
Zdroj: American Journal of Medical Genetics. Part A, 161, 158-161
American Journal of Medical Genetics. Part A, 161A, 1, pp. 158-61
American Journal of Medical Genetics Part A, 161A(1), 158-161. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 161, 1, pp. 158-161
American Journal of Medical Genetics Part A, 161A(1), 158-161
American Journal of Medical Genetics. Part A, 161A, 158-61
ISSN: 1552-4825
Popis: Item does not contain fulltext PhelanMcDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data about adult patients are virtually absent. The expression of its phenotypical characteristics appears to be linearly related to the deletion size. Here, an intellectually disabled geriatric female patient is described with a long history of challenging behaviors in whom PhelanMcDermid syndrome was demonstrated. Detailed analysis of the patient's history and functioning resulted in a psychiatric diagnosis of atypical bipolar disorder and her behavior significantly improved upon maintenance treatment with a mood stabilizing agent. The present article confirms recent findings that atypical bipolar disorder may be part of the psychopathological phenotype of PhelanMcDermid syndrome, reason why careful etiological search is warranted, also in the geriatric population. 4 p.
Databáze: OpenAIRE
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