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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The behavioral characteristics of five preschool boys with Leber's congenital amaurosis were compared with those of five preschool boys who had been blind from birth from other causes. The boys with Leber's amaurosis met criteria for infantile autism and had remarkably similar developmental histories. They had significantly higher ratings on the Childhood Autism Rating Scale for both frequency and severity of autistic symptoms. The two groups also had different profiles on the Autism Behavior Checklist, the Leber group having a distinctive profile and higher scores. It is suggested that cases of Leber's amaurosis may account for some descriptions in the literature of the co-occurrence of autistic behavior and blindness in children. Deficits in cerebellar structure have been reported in some Leber patients and in some autistic children, which may provide the neurological basis for the behavioral similarities seen in children with Leber's amaurosis and sighted autistic children.
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PMID:Characteristics of infantile autism in five children with Leber's congenital amaurosis. 280 41

A three year-old girl with Leber's amaurosis was found to fulfil the criteria for autism, as will as being mentally retarded. Despite her blindness she displayed unusually by early motor development and was able to move around in her surroundings without difficulty. This case suggests that this ability was due to her relevant use of a minor visual remnant and, as is often seen in blindness, a capability of reflecting the surroundings--a "bat sense". The pervasive development a disorder influenced her abilities more strongly than her sensory handicap.
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PMID:[Comorbidity of infantile autism and blindness]. 1002 86

Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome. This commentary explores the implications of this recent discovery and revisits the classification of LCA.
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PMID:Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. 1714 37

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.
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PMID:Leber's congenital amaurosis: is there an autistic component? 1759 21