Cornelia de Lange syndrome (also known as CdLS) is a rare genetic disease that is normally present from an early age. However, it may not be detected until later in life. It affects various parts of the body while it also has an adverse cognitive impact upon patients.
The predominant characteristics of Cornelia de Lange syndrome is slow physical development as well as impaired mental functioning. Those with more severe cases are known to have a shorter stature and convoluted limbs. It is for this reason that it is sometimes termed "Amsterdam dwarfism". As this is a genetic disorder, there is no known cure. There are nonetheless some treatment options which can help to mitigate its effects and enable sufferers to enjoy a better quality of life.
One of the first steps in regards to treatment involves recognizing the condition as early as possible. This is often much easier in the more severe cases. Early intervention is critical to help the patient deal with issues such as feeding, heart defects and possible auditory or visual impairments. It should be noted here that systemic abnormalities such as kidney problems could also be present and in some cases Surgical procedures may be required.
As mentioned previously, a host of physical defects may be present with those who exhibit Cornelia de Lange syndrome. Some of these can include (but might not be limited to):
It is wise to treat these conditions as early as possible, for delays in treatment (except under special circumstances) can lead to more significant problems later in life. Early surgical intervention will also enable the patient to more easily adapt to his or her condition.
Cornelia de Lange syndrome is also associated with mental abnormalities such as decreased memory capacity, a delay in speech and understanding organizational tasks. It is therefore wise to include a multidisciplinary approach that involves much more than addressing physical needs alone.
Advances in computer technology now offer more sophisticated and targeted treatment methods. Computerized tasks involving memory activities are thought to be much more effective when compared to following verbal commands alone (1).
It is thought that tactile interaction with the patient during these activities can enable them to adapt better. Scientists have also pointed out that fine motor activities and coordination should be stressed, as these can be drastically affected alongside cognitive issues. Occupational therapy which emphasizes normal tasks is an excellent way to enable the patient to cope with their everyday life.
As Cornelia de Lange syndrome is quite rare (impacting an estimated 1 out of 20,000 individuals), there are few known drugs which will directly target the genetic component. However, ancillary pharmacological solutions can be employed. These are normally associated with the comorbidity of other symptoms alongside the disease itself. For example, those who experience seizures may benefit from medications such as Carbamazepine or Diazepam (Valium).
There can also be instances when a sufferer exhibits mood disorders such as anxiety, depression and aggressiveness. A number of anti-depressants can be used in this case and these will be based upon the symptoms exhibited by the individual after a lengthy clinical examination. It should be mentioned here that specific conditions may contraindicate the use of medications (such as instances when a patient has a congenital heart disorder and is already undergoing treatment).
Doctors identified the gene which is thought to cause Cornelia de Lange syndrome in 2004 (2). Known as NIPBL, an in-utero mutation is believed to manifest the various symptoms described above. Additional genes such as SMC3, HDAC8 and RAD21 have since been discovered as additional components. Scientists believe the activation of these other substances may account for why the syndrome varies so widely between individuals. It is also hoped that advances in genetic research will be able to provide more targeted therapies in the future. Much of this research is still ongoing.