title: Leber's congenital amaurosis: is there an autistic component?
abstract: There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic-like behaviours in children with early-onset severe visual impairment. Our sample comprised 24 children (13 males, 11 females; mean age 5y 2mo; range 2-11y) affected by Leber's congenital amaurosis (LCA). The results of our administration of a modified Childhood Autism Rating Scale--excluding item VII (Visual Responsiveness)--showed that only four of the children gave an overall score indicating the presence of autism (moreover, of mild/moderate degree). Hardly any of the children in our LCA sample presented major dysfunctions in their relationships with other people or in their social and emotional responsiveness, thus allowing us to exclude a genuine comorbidity with a picture of autism. Indeed, the risk facing the visually impaired child seems to concern their early interactive experiences, which may be affected by their inability to connect with others, and may be prevented through the development of specific strategies of intervention.
authors.affiliation: Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology, University of Pavia, Via Mondino 2, 27100 Pavia, Italy. efazzi@unipv.it
authors.forename: E
authors.initials: E
authors.lastname: Fazzi
authors.forename: M
authors.initials: M
authors.lastname: Rossi
authors.forename: S
authors.initials: S
authors.lastname: Signorini
authors.forename: G
authors.initials: G
authors.lastname: Rossi
authors.forename: P E
authors.initials: PE
authors.lastname: Bianchi
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
mesh_terms: D001321:Autistic Disorder / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications*; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000150:complications*; D012720:Severity of Illness Index; D013239:Stereotyped Behavior / Q000502:physiology; D014785:Vision, Ocular / Q000502:physiology*