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

Intellectual Disability

Intellectual disability is a term that is used when a person has difficulties with cognitive (intellectual) functioning and adaptive behaviour (everyday practical and social skills). It can also be referred to as developmental disability or learning disability. Intellectual disability can be described as mild, moderate, severe or profound. This indicates the degree of disability and is based on the impact the intellectual disability has on the individual’s day to day functioning.

Most individuals with CdLS have moderate to severe intellectual disability and a small number have mild intellectual disability. Research has suggested that individuals with CdLS caused by an NIPBL mutation usually function at a lower level than individuals with CdLS caused by a mutation in another known CdLS gene, SMC1A (3). The type of NIPBL mutation does not seem to be associated with the level of intellectual disability (11,26,137), although missense mutations (single small mutations, explained on page 8) have been noted to produce less severe effects, however individuals with an NIPBL mutation can also have mild intellectual disability (138).

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