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 [email protected]
Hello, I’m a mother from Greece and I have a son who is going to be 3 years old in November. 3 days ago he was diagnosed with cdls. A de novo mutation on the NIPBL gene that is not globally reported. He is the first of the first. His appearance is not a typical cdls child. He has mild almost unnoticeable features of the syndrome and although now I can recognize the same characteristics, synophrys , big eyelashes, a slightly upturned nose and a lot of hair . They are all symmetrical and the funny part is that his father was like that at the same age except the synophrys. No one could notice except me (mothers tuition) and a couple of doctors were skeptical with his overall clinical situation but was nothing that severe and he was turning eventually to be fine so they thought that his appearance was due to his father genes and the rest were just a coincidence because he was a premature bay.
He was a sga baby and was born at 34 weeks, so not extremely premature.
From the beginning he had bad reflux and was not easily gaining weight but the doctors thought that there was an allergy in milk. He had some help with medication and after the first year of his life everything were fine. There were a couple of bad colds and was admitted to the hospital, but nothing out of the ordinary. A genetist also saw him when he was 3 months old and he thought everything was fine.
But I was still worried, he was different I could tell, I was searching for syndromes and cdls was the one that I found some similarities. I even asked our pediatrisian and she was absolutely sure that has nothing to do with the syndrome.
As his speech was not developing as expected (he has said a few words once and a few with different pronounciation of the vowels) I wanted to find answers so we visited a development specialist who suggested to rearrange a meeting with a genetist. The genetist was skeptical again because except from his small stature and lack of speech which again is common among toddlers nothing else seemed wrong. But I wanted answers, so we did a WES examination. That’s how the mutation on the gene was found. They announced it non – pathogenic as there is no bibliography of it.
Rather than that even his therapists say that he is very smart as he understands everything. He doesn’t eat that much, he’s hyperactive and although he seems smart and communicates with his own way , he tries to speak as well, still no one can understand a difference between small kids or late talkers.
I’m crying out for help . The doctors here still cannot believe the result as they have seen nothing like this before, a so mild -as it seems- phenotype. They prepared us for the best and worst case scenario and they told us that only time can tell. How am I supposed to live like that? Not knowing his development. He has no mobility issues , he goes to a normal kindergarten, he is communicative and a happy child. He only had fever once and all the viruses are dealt as every normal child. Even the teachers cannot yet see a huge difference from others.
I’m waiting for your response, so sorry for this long letter. I’m still trying to comprehend everything. There is no similar situation in Greece even his therapists do not know many things.
P.s : his hearing is fine and myelinated fibers were found on his right again (again very rare and they thought that it was inherited)
Are there any other similar mild cases? Where can I find answers and other parents?
Best regards