Information

Aging Research in CdLS

Advances in medical care, nutrition and fitness, along with early intervention therapy and ongoing physical activity, have led to individuals with genetic syndromes living longer into adulthood. For those with Cornelia de Lange Syndrome (CdLS), this was a significant area of research when heading into the new millennium. Although much information had been published about children with CdLS, not much was known about the syndrome during adulthood. 

Due to the lack of information my team and I decided to focus on assessments of adolescents and adults with CdLS through the generosity of the hospital where I work, Greater Baltimore Medical Center (GBMC). Since 2001, we have held multidisciplinary aging clinics twice a year, and since its inception we’ve seen over one hundred individuals with CdLS and their families.

what we have not seen

It is probably most important to note what we have not seen. In the oldest group of patients, there have been no instances of cancer and only several benign tumors. We have seen only a few people with hypertension (high blood pressure), and some with high cholesterol or lipids, and often there was also a family history of these. There has been one individual with heart failure, which was treatable, and no one with a heart attack or sudden cardiac death. To put this into perspective, according to the Center for Disease Control in Atlanta, 29% of the population in the USA has hypertension and 2-3% has heart failure—most adults with CdLS are exceeding these odds. Furthermore, according to the National Cancer Institute, 4.5% of all men and women develop cancer every year.
Thus, our numbers for these in CdLS are very low, which is quite reassuring. Overall, we have found that adults with CdLS are very strong, healthy and generally disease-free.

The gastrointestinal (GI) system

We have noted continued involvement of several specific body systems. The gastrointestinal (GI) system is always one of the most commonly involved. Gastroesophageal reflux is present in nearly every individual with CdLS. If not, it should be assessed for in the event that there is new onset abdominal pain or a change in or worsening of behaviors. Symptoms can come and go. There also can be constipation or diarrhea, with poor bowel motility as the cause. Some GI complications can occur at an earlier age than in the general population. One such GI complication is Barrett’s esophagus.

nervous system

The nervous system also has continued involvement. Seizures may occur in adults if they were present in childhood, and occasionally if they were not. Intellectual disability and autistic features will persist into adulthood. In terms of psychiatric diagnoses, both depression and anxiety can develop, but incidence is difficult to assess. Many adults have some obsessive-compulsive traits, but very few have obsessive-compulsive disorder. Behavioral problems persist as well, sometimes amenable to behavioral modification or other treatments; these include outbursts, aggression and self-injury, and often subside in the 20’s and older. 

Woman / Men

The urinary tract and genitalia remain stable, and we have not seen kidney complications.

Menopause appears to be at a typical age. Men can have prostate enlargement earlier than the general population. For some people, the skin and face appear older than would be expected based on age. Hair tends to become grey slightly earlier than other family members. The bones can lose their density earlier than expected as well.

We have published recommendations for evaluations and assessments in adults, available through the Foundation at www.CdLSusa.org, by searching “adulthood.” We also welcome you and your adolescent or adult with CdLS at our aging clinic in Baltimore!


Tonie Kline
Tonie Kline

CdLS Foundation Medical Director, CdLS World Scientific Advisory Council

Page history
Last modified by Gerritjan Koekkoek on 2021/06/16 20:05
Created by Gerritjan Koekkoek on 2017/11/30 16:52

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   

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