Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

Giovanna Olioso, Alice Passarini, Francesca Atzeri, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Francesca Menni, Angelo Selicorni

Research output: Contribution to journalArticle

Abstract

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, NIPBL, SMC1A, and SMC3, are known to be related to the CdLS phenotype with an overall detection rate of about 50%. Few data are available regarding the level of autonomy in everyday life of CdLS patients. Dueto the collaboration of the Italian parents' support group, we collected information regarding clinical and behavioral problems and everyday abilities of 45CdLS patients between 13 and 39 years, using a specific multi-item questionnaire. To better analyze clinical information we divided our patients into three groups according to age: 13-20, 21-29, and over 30 years. Data from clinical, malformative and behavioral problems were not significantly different from those described for CdLS patients. Regarding personal autonomies this study showed the significant limitations of these individuals. It is interesting to observe that patients between 21 and 29 years, showed the best performance, while those over 30 had more severe difficulties. We suggest that these data be interpretated as a minimum level of autonomy achievable for CdLS adolescent/young adults, as the level of care, rehabilitation and stimulation of these patients has increased in the last 30 years.

Original languageEnglish
Pages (from-to)2532-2537
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
Publication statusPublished - Nov 2009

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Keywords

  • Autonomy
  • Cornelia de Lange syndrome
  • Everyday abilities
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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