Diagnosis and Management of Cornelia de Lange Syndrome: First International Consensus Statement
Nature Reviews Genetics
Kline, A. D., Moss, J. F., et al. (2018).
Nature Reviews Genetics, 19(10), 649-666.
This is a consensus guideline providing recommendations on the management and care of individuals with Cornelia De Lange Syndrome.
International CdLS Consensus Group
"Speech therapy is highly recommended to optimize communication skills and should be implemented within the first 18 months of age.... Early augmentative and alternative communication interventions, tackling communication deficits from the beginning ... are highly recommended" (p. 662).
Interventions specific to autism spectrum disorder should be considered in individuals with Cornelia De Lange Syndrome in conjunction with approaches that address the broader social functioning profile of the syndrome.
For individuals with Cornelia De Lange Syndrome (CdLS) and hearing loss, if surgical intervention (e.g., pneumatic ear tube insertion) is not effective, a hearing aid, bone-anchored hearing aid, or cochlear implantation may be appropriate depending on the severity of hearing loss and characteristics of the individual. The use of devices to manage hearing loss in individuals with CdLS has variable outcomes.
Difficulties with social interaction and social anxiety may co-occur with communication difficulties and should be considered when assessing communication and speech problems.
For individuals with Cornelia De Lange Syndrome (CdLS), "initial evaluation of children with CdLS should include standard audiometric testing, plus otoacoustic emissions testing, auditory brainstem evoked response audiometry, or both, to assess for auditory neuropathies. Early identification of hearing loss is critical to maximize communication skills" (p. 659). Because hearing may fluctuate in individuals with CdLS, longitudinal hearing assessments are recommended.
