Psychosocial implications of neuropsychological assessment in children with Osteogenesis Imperfecta

M. L. Lorusso, M. Lo Pinto, V. Martocchi, R. Garghentino

Research output: Contribution to journalArticlepeer-review


Osteogenesis Imperfecta (O.I.) is a genetic disease caused by structural or quantitative alteration of collagen formation, mainly resulting in enhanced bone fragility. The nature of O.I. as a disease involving connective tissue does not imply, directly, any disorder in neuropsychological functioning. The few published studies on the topics suggest average to superior intellectual levels and no specific neuropsychological deficits. Nonetheless, we decided to include cognitive and neuropsychological assessment as a part of our multidisciplinary evaluation program for O.I., according to the following hypotheses: - limited experiences in manipulation/exploration at an early age may interfere with the development of visual-spatial organisation, - motor and functional limitations caused by the illness may induce overinvestment in intellectual functioning, thus resulting in a particular cognitive profile and cognitive style. Particularly, there may be excessive emphasis on availability of cultural knowledge; enhancement of verbal abilities with respect to practical and constructional skills; eagerness to show mastery in cognitive tasks, sometimes resulting in anxiety, emotional blocking or impulsivity, reduced flexibility. These hypotheses, which seem to be supported by our data, have clear socio-emotional implications, including school achievement and school satisfaction, parents' implicit-explicit expectations and their consequences on child-parent relationships and child-peers relationships, educational-occupational projects and expectations, general level of satisfaction.

Original languageEnglish
Pages (from-to)161
Number of pages1
JournalGenetic Counseling
Issue number2
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Genetics(clinical)


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