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Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome
Author(s) -
Olioso Giovanna,
Passarini Alice,
Atzeri Francesca,
Milani Donatella,
Cereda Anna,
Cerutti Marta,
Maitz Silvia,
Menni Francesca,
Selicorni Angelo
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33075
Subject(s) - cornelia de lange syndrome , microcephaly , autonomy , hirsutism , pediatrics , everyday life , psychology , intellectual disability , clinical psychology , medicine , developmental psychology , physical therapy , psychiatry , insulin resistance , polycystic ovary , political science , insulin , law
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. Due to the collaboration of the Italian parents' support group, we collected information regarding clinical and behavioral problems and everyday abilities of 45 CdLS 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. © 2009 Wiley‐Liss, Inc.