Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: recommendations for clinical management
Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases)
that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this
study was to describe the cognitive-behavioural profile in children in order to plan a clinical
intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months
to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a
cognitive assessment including intelligence scales, language and visuo-spatial competence tests,
learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual
deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age
and two of these showed no intellectual disability, but had specific disabilities in calculation and
arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to
developmental age. We stress the importance of an early assessment of learning abilities in
individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.