If you’re new to the CdLS Family you’re probably very interested in learning whether your child with CdLS is mildly, moderately, or severely affected. The following article, written by Dr. Antonie Kline, CdLS Foundation Medical Director focuses on the genetic variation within this syndrome.
Life is full of variations. No two people are completely alike, not even identical twins. This holds true in the field of genetics as well. With syndromes, there will always be degrees of involvement, differences in signs or symptoms, and a range of clinical effects.
In CdLS, despite similarities, differences abound.
The source of variation is largely genetic. Many thousands of genes existing on our chromosomes do not carry out a major role in the body’s functioning but act as assistants, influencing each job every so slightly. Although we do not yet know where or how many genes there are that, when changed, produce CdLS, we do know they exist.
Every individual with CdLS has his or her own panel of genes, inherited from both parents, that regularly influence the CdLS gene(s).
Family background, ethnicity, and country of origin influence external appearance in everybody, including individuals with CdLS. Intelligence and level of developmental achievement can also be affected by family traits.
What strikes many families coming to a CdLS gathering for the first time is twofold:
Individuals with CdLS largely resemble each other, particularly in their small size, facial features, extra body hair, and arm or hand differences. There is a broad difference in abilities at the same chronological age.
What produces this difference is again unknown. Why are a small percentage of people with CdLS unable to walk? Why can a small percentage of people with CdLS attend a regular high school and college? We hope that answers to these questions will be discovered in the near future as molecular work progresses.
Individuals with CdLS who are said to be “mildly affected” or “less severely affected” are in the minority within our known group.
Some join the Foundation as infants when the features are easier to recognize. Others join in adulthood. Some of us believe that there are many people in our country (and likely the world) who have had only minor setbacks in life, either with medical issues or related to schooling, and who may be on the smaller side, who have CdLS but have never had it diagnosed. It will take more awareness and the improvement of professionals’ education to be able to recognize CdLS whenever it occurs.
Once the gene (s) is/are discovered, we will be able to verify the diagnosis of CdLS.
The Foundation’s mission includes helping people with the diagnosis of CdLS and those with similar characteristics make informed decisions throughout their lives and to ensure that support is provided to a maximum number of families needing intervention and services.
As children with CdLS grow and develop they show us what they can and cannot do. Like life, their development is a slow process and parents have learned to take it one day at a time, celebrating the smallest of accomplishments and learning that their child with CdLS is a child first. The diagnosis of CdLS is secondary. The diagnosis is given to help everyone understand the possible challenges ahead and to ensure that a child is given access to early intervention programs and guidelines for quality medical and dental care.
“Will my child talk?” is the second most frequently asked question by new parents. Following are some general interventions, however, you can obtain more information by contacting the Foundation office and requesting a speech and language packet.
All children with CdLS should receive a communication assessment as early as possible.
Above all, parents should talk to their child as though they expect a response and continue to expect a verbal response for as long as appropriate.
Hearing ability is a critical factor in the development of speech and language.
Early and frequent tests are necessary, particularly with the child who has a suspected hearing loss.
Babies with CdLS have very tiny structures and testing may be difficult. It is advisable to consult with an audiologist or otolaryngologist who is familiar with CdLS or is experienced in working with infants
Tubes may be useful for middle-ear drainage
If a hearing loss is suspected, headsets and hearing aids may be prescribed. Even a mild hearing loss can result in a speech and language delay. Many families have shared with the Foundation that their children initially test as having severe hearing loss but show moderate, mild or no hearing loss upon reexamination. At present we do not understand why this occurs.
A cleft lip and palate should be closed as early as possible
Gestures and sign language are encouraged as means to facilitate and motivate oral communication
Children from bi-lingual families seem to have the same level of ability in both languages.
Growth and development charts are also available on our website or by contacting us directly. We are pleased to share that many ongoing research projects funded by this Foundation and the National Institute of Health, as well as CdLS clinics being held at CHOP and GBMC, are helping us provide information that will be beneficial to children with CdLS born yesterday, today, and tomorrow.
Do you have questions? Contact the CdLS Foundation’s Family Service team at familyservicesteam@CdLSusa.org
Recent Comments