title: Longitudinal neuropsychological profile in a patient with triple a syndrome.
abstract: Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0) and after one year of follow-up (T1). Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.
authors.affiliation: Child Neuropsychiatry Unit, Department of Neuroscience, I.R.C.C.S. Children's Hospital Bambino Gesù, Piazza S. Onofrio 4, 00165 Rome, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Mazzone
authors.forename: Valentina
authors.initials: V
authors.lastname: Postorino
authors.forename: Lavinia
authors.initials: L
authors.lastname: De Peppo
authors.forename: Lia
authors.initials: L
authors.lastname: Vassena
authors.forename: Laura
authors.initials: L
authors.lastname: Fatta
authors.forename: Marco
authors.initials: M
authors.lastname: Armando
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Scirè
authors.forename: Marco
authors.initials: M
authors.lastname: Cappa
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari