title: Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles.
abstract: The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans.
authors.affiliation: University of Catania, Italy. s.dinuovo@unict.it
authors.forename: Santo
authors.initials: S
authors.lastname: Di Nuovo
authors.forename: Serafino
authors.initials: S
authors.lastname: Buono
mesh_terms: D000203:Activities of Daily Living; D000223:Adaptation, Psychological / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D003142:Communication; D004314:Down Syndrome / Q000523:psychology; D005260:Female; D005600:Fragile X Syndrome / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology*; D007360:Intelligence / Q000235:genetics; D008297:Male; D009048:Motor Skills / Q000502:physiology; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000523:psychology; D018980:Williams Syndrome / Q000523:psychology; D055815:Young Adult