title: Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome.
abstract: Smith-Magenis syndrome is characterized by a range of minor physical and facial abnormalities and is caused by a de novo deletion on chromosome 17. Most children function in the moderate to severe ranges of mental retardation. Results of a survey on adaptive skills, communicative competence and behavioural abnormalities in 20 children are reported. The findings suggest a strong desire to get in social contact and maintain conversations in spite of their limited cognitive processing. As a group, children with SMS are presenting with severe behavioural abnormalities, e.g. self-injury, extreme irritability, ritualistic behaviour. Behaviour problems are more severe than in other genetic syndrome groups as a comparison with Prader-Willi- and Fragile-X-syndrome children reveals. However, functional analysis suggests that it is not independent from situational variables. There is a strong need for behavioural intervention planning as part of family services.
authors.affiliation: Kinderzentrum München, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Sarimski
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D002648:Child; D002653:Child Behavior Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003142:Communication; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007398:Interpersonal Relations; D008297:Male; D010641:Phenotype; D011795:Surveys and Questionnaires; D013577:Syndrome