What Treatment is Available for Cornelia de Lange Syndrome?
Unfortunately there is no cure for Cornelia de Lange Syndrome so like many other syndromes, treatment is focused on the management of symptoms through a multidisciplinary approach. There are two key components which treatment can be separated into which include:
The incidence of congenital heart disease in children with Cornelia de Lange Syndrome has been found through studies to be as high as 20 to 30 percent therefore assessment and monitoring by a paediatric cardiologist is crucial. They may also require surgery depending on the severity of the condition. Dental problems include small jaw development; crowded or small teeth, periodontal disease, and the erosion of teeth caused by stomach acids from reflux are common. Children with Cornelia de Lange Syndrome therefore require early dental evaluation and treatment by a dentist or orthodontist and if in the case of cleft palate and other physical deformities a surgeon would also be involved in closing the cleft. Hearing is also often an issue with these children and therefore diagnosis and treatment by an ENT specialist and Audiologist is recommended.
Ongoing medical care and early intervention services is also essential and a number of different specialists may be involved depending on the individuals needs. This often includes ophthalmology, cardiology, otolaryngology, speech therapy, occupational therapy, audiology, neurology, dietitian, psychology and physiotherapy.
Speech pathologists play a large role in the diagnosis and development of speech, language and feeding skills in children with Cornelia de Lange Syndrome as the absence of speech, or the development of only minimal speech is common even in children more mildly affected by the syndrome. A small percentage of individuals will develop speech normally. For most, however, their ability to communicate will be influenced by the developmental factors related to the syndrome and their involvement in speech therapy with early intervention being a crucial component.
Feeding issues are often the reason for the child’s first contact with a speech pathologist and these commonly include sensitivities to the temperature, texture or taste of food or sensitivities to environmental aspects such as light, noise, room temperature or social aspects such as the people present or conducting the feeding. Reflux may also be a factor, as well as difficulties during the transitioning from tube feeding to oral feeding which need to be managed. The speech pathologist will conduct a feeding assessment and provide the appropriate strategies to assist with the feeding difficulties.
Most children with Cornelia de Lange Syndrome will present with some speech errors in articulation such as sound substitutions, deletions or and distorted especially in the case of individuals with cleft palate or other oral structural abnormalities and hearing impairment. A lot of these children will have a speech condition known as Childhood Apraxia of Speech which involves difficulty with motor planning of speech making it very difficult for them to produce verbal speech. Depending on the severity of the symptoms many children may at some stage require the assistance of alternative speech tools such as signing, communication boards, computer programs, or some AAC devices. A speech pathologist will conduct a full assessment and should be involved in ongoing management if required, to help determine and assist with implementation of the most appropriate form of communication for each individual.
Are children with Cornelia de Lange Syndrome eligible to receive Government funding for therapy?
Children who have been diagnosed with of a range of disorders, including Cornelia de Lange Syndrome, may be eligible to receive funding for therapy and resources until your child turns 7. The Better Start for Children with Disability initiative includes up to $12,000 in funding for early intervention services and treatments for eligible children. Additional assistance is also available for eligible children who live in outer-regional, rural or remote locations to help with the costs of accessing services. A Medicare rebate is also available for eligible children up to the age of 13.
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