Behavioral phenotypes of genetic syndromes with intellectual disability: Comparison of adaptive profiles

Santo Di Nuovo, Serafino Buono

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)440-445
Number of pages6
JournalPsychiatry Research
Volume189
Issue number3
DOIs
Publication statusPublished - Oct 30 2011

Fingerprint

Behavioral Genetics
Intellectual Disability
Phenotype
Angelman Syndrome
Williams Syndrome
Prader-Willi Syndrome
Wechsler Scales
Fragile X Syndrome
Psychological Adaptation
Down Syndrome
Intelligence
Psychiatry
Research Design
Research

Keywords

  • Adaptation
  • Angelman Syndrome
  • Down Syndrome
  • Fragile-X Syndrome
  • Mental retardation
  • Prader-Willi Syndrome
  • Williams Syndrome

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

Cite this

Behavioral phenotypes of genetic syndromes with intellectual disability : Comparison of adaptive profiles. / Di Nuovo, Santo; Buono, Serafino.

In: Psychiatry Research, Vol. 189, No. 3, 30.10.2011, p. 440-445.

Research output: Contribution to journalArticle

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