By Antonie D. Kline, M.D., CdLS Foundation Medical Director
A trip to the ER will be indicated for a severe accident, difficulty breathing, fainting, or a foreign object put into an ear, a nose or swallowed by accident. And for most, a call to the primary care practitioner (PCP) will be prompted by new onset illness, fever, recurrent vomiting or diarrhea, unusual skin rash, COVID, asthma, and other concerns.
When CdLS is present, there can be additional specific entities needing a call to the PCP or a trip to the ER. These are discussed here by body system:
NEUROLOGIC – People with CdLS (about 20%) can have seizures. These can arise at any age, from infancy through childhood. These can be well managed by a single medication, and parents learn when to give additional medication if needed. The first time a seizure occurs, a trip to the ER should be made. Once seen by pediatric neurology and evaluated, there still will be need for calls to the PCP. Girls with loss of function gene variants in SMC1A have an unusual type of seizure disorder and may need more frequent trips to the PCP or ER.
GASTROINTESTINAL – Most people with CdLS (over 95%) have some GI involvement, particularly gastroesophageal reflux disease. Usually, questions related to vomiting, reflux, medications, back arching, and fussiness can be addressed by the PCP. Everyone with CdLS should undergo a barium swallow study to see if malrotation is present, which could need surgical repair. Questions related to this can be directed to the PCP. Many individuals also have slower-moving bowels and can develop constipation, which the PCP can address, or bowel obstruction, which a GI doctor or surgeon may need to manage. A trip to the ER is likely needed for suspicion of bowel obstruction for any child or adult developing acute abdominal pain with a rigid abdomen. Other signs of a bowel obstruction include a swollen belly and sudden vomiting that is bright yellow.
OPHTHALMOLOGIC – Problems with the eyes usually include droopy eyes, crusted eyes, eye muscle problems, or nearsightedness. These are usually referred by the PCP to the eye doctor. With very severe nearsightedness, there is a risk of a spontaneously detached retina. Someone with self-injury could press their fingers into the eye and cause a detached retina. A nonverbal or less verbal individual may not be able to share symptoms. A visit to the eye doctor or emergency room would be the first step if this is suspected.
PSYCHIATRIC – At times, behavior in CdLS can become “out of control”, which should be discussed with the PCP. If the behavior escalates, a referral is indicated to psychiatry for appropriate medications and/or to behavioral psychology to discuss a behavioral plan; both can help enormously. If aggression or self-injury cannot be handled at home and the child or adult is at risk of harming themselves or others, a trip to the ER may be necessary for short-term help.
People with CdLS can have most of their organ systems involved. They have many medical complications, sometimes need surgery, and often might not feel their best. It can be challenging to assess when symptoms are typical for an individual or concerning, and when and whom to call or visit. When in doubt, err on the side of calling the PCP or going to the ER if very concerned.
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