High-functioning autism spectrum disorder associated with CHARGE syndrome: A case report

Simone Pisano, Annarita Milone, Ilaria Gemo, Gabriele Masi

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CHARGE syndrome (CS) is a nonrandom association of anomalies (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) so called by Pagon et al. (1981). Frequently co-occurring structural abnormalities include cleft palate and tracheo-oesophageal fistula, with functional impairments in feeding and swallowing. The Central Nervous System is frequently involved as well as cranial nerves (i.e. facial palsy). The more recent revised diagnostic criteria require the presence of four major characteristics or three major and three minor characteristics for the diagnosis of CS (Blake and Prasad, 2006). Data from the Canadian Paediatric Surveillance Program reported an incidence rate as high as 1 : 8500 live births (Issekutz et al., 2005). Mutation in the CHD7 gene, encoding the chromodomain helicase DNA-binding protein, is the only known cause but, until recently, no clear genotype-phenotype correlation had been found (Bergman et al., 2011). Intellectual disability has been considered a main feature of the syndrome, although more recently, different levels of intellectual functioning have been reported (Raqbi et al., 2003; Bergman et al., 2011). Moderate to severe neuropsychiatric disorders are often associated with it, namely obsessive-compulsive disorder, attention-deficit hyperactivity disorder, Tourette syndrome and autism spectrum disorders (ASD) (Hartshorne et al., 2005). Recent reviews suggest that the prevalence of ASD may range from 15 to 50%, with different degrees of intellectual disability (Moss and Howlin, 2009). Smith et al. (2005) reported that ASD is more common when CS is associated with marked intellectual disability and severe impairment of adaptive skills. In a study by Johansson et al. (2006), none of the patients with ASD presented intellectual abilities in the normal range, and a high correlation was found between level of intellectual disabilities and degree of ASD. We report on a girl with CS and high-functioning ASD with normal/superior intellectual functioning.

Original languageEnglish
Pages (from-to)35-37
Number of pages3
JournalClinical Dysmorphology
Issue number1
Publication statusPublished - Jan 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine


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