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Minerva Pediatrica 2019 August;71(4):343-8

DOI: 10.23736/S0026-4946.16.04401-7

Copyright © 2016 EDIZIONI MINERVA MEDICA

lingua: Inglese

Cognitive phenotype and language skills in children with achondroplasia

Cinzia GALASSO, Martina SIRACUSANO , Nadia EL MALHANY, Caterina CERMINARA, Mariabernarda PITZIANTI, Monica TERRIBILI

Unit of Pediatric Neurology, Department of Neuroscience, Tor Vergata University, Rome, Italy



BACKGROUND: Although achondroplasia (ACH) may not be considered a condition that is strictly related to neuropsychiatric problems, many children referred to pediatric neurologists and psychiatrists to undergo motor and linguistic diagnostic-rehab procedures. The purpose of this study was to delineate a characterization of language difficulties in a sample of Italian children with achondroplasia and analyze how an untreated language disorder can develop into a learning disability.
METHODS: Seventeen Italian children (average age: 5 years and 8 months) with a clinical diagnosis genetically confirmed of achondroplasia were enrolled. Each child underwent a neuropsychological evaluation depending on the age, which included the following areas: intelligence, language, visual-spatial skills, memory, academic achievements, behavior.
RESULTS: Most of ACH patients showed delayed speech development milestones. Cognitive evaluation revealed average abilities. All the ACH children have received a diagnosis of language impairment (DSM-5 “The Diagnostic and Statistical Manual of Mental Disorders 5° edition”): “Speech sound disorder” in the pre-school-age group, “Language disorder” with impairment of both verbal expression and verbal comprehension in the school age children.
CONCLUSIONS: Several studies on general population demonstrated that children with developmental speech and language problems are at considerable risk for learning disability. Considering that in our ACH sample the language disorder has been diagnosed in all children, we expect a higher prevalence of learning disabilities in ACH than in general population.


KEY WORDS: Achondroplasia; Dwarfism; Speech-language pathology; Learning disorders; Cognitive dysfunction; Cognition

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