Communication in Angelman syndrome: An isolated problem of speech production?

Background: Angelman syndrome (AS) is caused by deletion or alteration of gene UBE3A. Speech is absent for all genetic causes regardless of cognitive ability; however, it is not known if other forms of expressive communication are affected. By examining the communication profile of deletion and non‐deletion genetic causes, we can ascertain whether (1) spoken language deficits dissociate from other communicative abilities and (2) if spoken language deficits are unrelated to general cognitive impairment. Methods: Questionnaire data were collected on receptive and expressive language and gesture use for children with AS (deletion (n = 18) Mage = 9.88, SD = 4.58; non‐deletion (n = 22) Mage = 9.33, SD = 3.50). Gesture use (including intentionality) and verbal and non‐verbal communication were also assessed using behavioural coding (deletion (n = 27) Mage = 9.75 SD = 3.83; non‐deletion (n = 10) Mage = 9.75 SD = 4.11). Results: Non‐deletion AS evidenced significantly better receptive (P < .001) and expressive language (P = .001) and more gesture use (P < .001) than deletion AS, yet their expressive language was still impaired relative to TD children of similar receptive language abilities (P < .001). There were minimal between group differences in amount of verbalisations (P = .025) but non‐deletion AS had a wider range of gestures, more intentional communication and used significantly more symbolic forms of communication (P < .001) than deletion AS. Conclusion: Spoken language skills dissociate from other communicative abilities in AS. While both groups were characterised by absent speech, gesture use and other non‐verbal communication skills were present in both groups and were more evident in the non‐deletion sample. Universal absence of speech in AS, even in individuals with relatively good non‐verbal communication skills, implicates involvement of UBE3A in speech production. Evidence of intentional communication, despite