title: Neuropsychological assessment of a group of UK patients with Cohen syndrome.
abstract: Cohen syndrome is a rare autosomal recessive syndrome with a distinctive clinical phenotype that includes mental retardation and a characteristic sociable disposition. Variability in the level of learning disability and the behavioural phenotype is seen in the published literature. In a cohort of Finnish Cohen syndrome patients, severe mental retardation and non-maladaptive behaviour were described. Outside of Finland, autistic-spectrum behaviour has been reported in a few isolated Cohen syndrome patients but in a recent UK study was found to be highly prevalent. We report the results of neuropsychological studies in a group of 16 genetically heterogeneous patients, all with the characteristic clinical features of Cohen syndrome. Of the 9 patients who underwent formal neuropsychological testing, all but one was functioning in the severely mentally impaired range. Of the remaining patients, 3 were below the age of formal testing and 4 had such profound learning and behavioural problems that they were deemed unable to participate in testing. Mild maladaptive behaviour was observed in 13 patients and 3 were documented as having significant maladaptive behaviour. In contrast to the Finnish group of Cohen syndrome patients, this UK study identifies significant neuropsychological impairment combined with maladaptive behaviour as a characteristic of Cohen syndrome. Although autistic-type behaviour was observed, an increased prevalence of autism in Cohen syndrome was not confirmed.
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK. kate.chandler@cmmc.nhs.uk
authors.forename: K E
authors.initials: KE
authors.lastname: Chandler
authors.forename: M
authors.initials: M
authors.lastname: Moffett
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: G A
authors.initials: GA
authors.lastname: Baker
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007859:Learning Disabilities / Q000209:etiology*; D008297:Male; D001523:Mental Disorders / Q000209:etiology*; D008831:Microcephaly / Q000150:complications*; D008875:Middle Aged; D009483:Neuropsychological Tests; D011594:Psychometrics; D012189:Retrospective Studies; D013577:Syndrome; D006113:United Kingdom