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