Autistic features in Cohen syndrome: a preliminary report
Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. 'Autistic-type' problems were as common in females as in males.
showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. ‘Autistic-type’ problems were as common in females as in males.
Autistic features in Cohen syndrome: a preliminary report
Feb 13, 2007 · Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty-three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study.
Cohen Syndrome: What It Is, Symptoms, Treatment & Prognosis
Aug 16, 2024 · Is Cohen syndrome autism? No. Autism spectrum disorder (ASD) is a neurodevelopmental disease. Cohen syndrome is a genetic condition. They aren’t the same. Many children diagnosed with Cohen syndrome experience similar symptoms as ASD or can have ASD with Cohen syndrome.
Behavioural characteristics and autistic features in individuals with ...
Twenty-two individuals met criteria for autism on standardised diagnostic assessments, although the "autistic profile" was somewhat atypical. The implications of these findings for our understanding of Cohen Syndrome are discussed.
Disease relevance of rare VPS13B missense variants for ...
Jun 11, 2022 · Genetic variants in VPS13B have been found to cause Cohen syndrome, but have also been linked to autism, retinal disease, primary immunodeficiency, and short stature.
Behavioural characteristics and autistic features in individuals with ...
The present investigation of 45 individuals with Cohen Syndrome (age 4–48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare.
Autistic features in Cohen syndrome: A preliminary report
Nov 1, 2001 · Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet...
Cohen Syndrome is a rare autosomal recessive disorder, first described in 1973 [3].A gene (COH1; chromosome 8q22) [14] has recently been identified, although there are indications that there may be considerable genetic heterogeneity [14].
Cohen Syndrome is a rare genetic disorder that is caused by variants in the VPS13B gene. Variants in the VPS13B gene are believed to inhibit the production of the functional VPS13B protein. Researchers are still studying how the VPS13B protein affects development in individuals with Cohen Syndrome.
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