» What are the Cognitive and Behavioural Characteristics of Cornelia de Lange Syndrome

Communication and language

Communication abilities vary widely in CdLS. Typically, individuals with CdLS experience major difficulties in communication and many individuals do not develop verbal communication. Speech difficulties in CdLS often occur due to abnormal muscle tone. However, visual impairment, hearing loss and mouth structure or jawbone abnormalities (e.g. cleft palate, page 18) can also lead to speech and communication difficulties. Difficulties in communication and understanding communication can also arise from cognitive impairment (problems with memory, thinking and communication)(176,178).

Currently there is little research on the relationship between intellectual functioning, behaviour and communication skills in CdLS (169). Individuals with CdLS tend to communicate with a low-pitched cry when young, and then speak with a low monotone (expressionless) voice (140,179).  Selective mutism (not speaking in social situations where there is an expectation for speaking e.g. at school) is often seen in CdLS. Selective mutism in CdLS may occur as a part of ASD or as an expression of anxiety (148,152). Expressive language difficulties are common in CdLS (170,176,177). Individuals with CdLS usually experience more marked difficulties in expressive language than receptive language (ability to understand communication). Receptive language difficulties in CdLS usually specifically relate to sentence grammar (138).

Individuals with CdLS will often develop methods of non-verbal communication. Non-verbal communication skills can include approaching, touching, showing, pointing, giving or gesturing. These methods of non-verbal communication are usually subtle and can be easily missed (178). The teaching of sign language such as Makaton may prove helpful.

It is important to remember that difficulties in language and communication do not occur in all individuals with CdLS. Some individuals will develop good speech and language skills.

Social anxiety and difficulties in social interaction can impact negatively on an individual’s language skills and engagement in non-verbal communication (138,174). Communication difficulties in CdLS are also associated with, and often occur alongside, challenging behaviours such as self-injury or aggression (3). Assessment of communication skills in CdLS should consider whether an individual experiences vision and hearing problems, speech impairments, intellectual disability, difficulties in social interaction and social anxiety (R63).

Effective verbal and non-verbal communication skills can greatly improve quality of life for individuals with CdLS. Developmentally appropriate communication interventions can be used to help develop effective communication skills from 18 months of life (138,181,182). Communication interventions may include speech therapy or alternative and augmentative communication (AAC) (R64). AAC may include use of gestures, icons, pictures and written language. Assessment of an individual’s level of communication and limitations will help to decide which communication intervention will be most effective (180).

Parents are typically experts in understanding the communication signals of their child. The experience parents acquire over the years is invaluable and extremely helpful to behavioural specialists and speech therapists. Detecting and identifying small communicative signals, awareness of one’s own reactions and understanding their meaning facilitates adjustment of communication and responses. Responsive milieu teaching (arranging objects in a child’s environment to create a setting that encourages communicative behaviour) and video observations can be very helpful in detecting and identifying subtle communication signals, their meanings and appropriate responses, especially for individuals with marked cognitive impairments (183,184).

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