title: Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
abstract: Phelan-McDermid 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 Phelan-McDermid 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 Phelan-McDermid syndrome, reason why careful etiological search is warranted, also in the geriatric population.
authors.affiliation: Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
authors.forename: Willem M A
authors.initials: WM
authors.lastname: Verhoeven
authors.forename: Jos I M
authors.initials: JI
authors.lastname: Egger
authors.forename: Ruthy
authors.initials: R
authors.lastname: Cohen-Snuijf
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
mesh_terms: D000368:Aged; D002090:Butyrophenones / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics; D002797:Choline Kinase / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000187:drug effects / Q000235:genetics; D002658:Developmental Disabilities / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008094:Lithium / Q000627:therapeutic use; D024101:Mitochondrial Proteins / Q000235:genetics; D018832:Molecular Chaperones; D009123:Muscle Hypotonia / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D013939:Thymidine Phosphorylase / Q000235:genetics
chemical_list: D002090:Butyrophenones; D002352:Carrier Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D009419:Nerve Tissue Proteins; C400285:SCO2 protein, human; C492357:SHANK3 protein, human; D002220:Carbamazepine; C005569:pipamperone; D008094:Lithium; C455847:EHMT1 protein, human; D011495:Histone-Lysine N-Methyltransferase; C543750:TYMP protein, human; D013939:Thymidine Phosphorylase; C542592:CHKB protein, human; D002797:Choline Kinase