The velocardiofacial syndrome in older age: dementia and autistic features.
Velocardiofacial syndrome (VCFS) is a syndrome with a known, but variable clinical and behavioural phenotype. Most reported cases are patients of a relatively young age. The development of the behavioural phenotype and psychopathology in older patients with VCFS is less known. We present a case of a 52 year old male patient with VCFS and a deletion in chromosome band 22q11.2. He presents with typical symptoms reported in the behavioural phenotype, autistic features and an overall deteriorating process, which fulfils the DSMIV criteria for dementia.
Evers
L J M
LJ
St Anna Foundation, Centre for People with a Mental Disability, Heel, The Netherlands. revers@stanna.koraalgroep.nl
Vermaak
M P
MP
Engelen
J J M
JJ
Curfs
L M G
LM
D001321:Autistic Disorder / Q000150:complications* / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics; D003704:Dementia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics*; D039721:Diagnostic and Statistical Manual of Mental Disorders; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010641:Phenotype; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires