Management Guidelines

Treatment Guidelines for Preventive Care

The treatment guideline sheet highlights routine care for individuals with CdLS at different ages, including infancy, early and late childhood, adolescence and adulthood.

View Guidelines

Developmental Skills Chart

The developmental chart was derived from results of a questionnaire that compared the percentage of individuals who completed a certain skill to the total group (tabulated by age).  Please review these guidelines with your child’s medical professional(s).

A developmental chart specific for CdLS is available for use by practitioners and therapists.

Although many individuals with CdLS have no significant behavioral problems, there are some conditions that make self-injurious behavior more likely to occur. They may also have strong reactions to ordinary stimuli that continue long after the stimulus is gone. Individuals with CdLS may also be dysrhythmic, meaning they have irregular patterns of behavior in the areas of eating, sleeping and emotional response.

Lack of sensitivity to pain and/or heightened sensitivity to touch suggests some individuals with CdLS may have neurological impairment. They may also be prone to behavioral problems such as hyperactivity, short attention span and oppositional or repetitive behavior.

Psychiatric Evaluations
Many of commons issues individuals with CdLS have can be resolved with a pediatrician who has developmental or behavioral experience. These would be minor issues with eating or sleeping, tantrums or even hyperactivity.

Persistent behavioral difficulties, including hyperactivity that does not respond to medication, severe impulsive behavior, oppositional behavior, aggression or self-injury, may require treatment by a specialist in behavioral psychology or a child psychiatrist. The long-term treatment of serious behavior or emotional problems should almost always be the responsibility of a specialist in child and adolescent psychiatry and/or a behavioral specialist with experience in developmental disabilities.

Studies show that the incidence of congenital heart disease in children with CdLS is as high as 20 to 30 percent (compared to 0.8 percent for all births). The severity of heart defects can range from relatively minor defects (atrial septal defects) to more serious forms (Tetralogy of Fallot).

Some heart defects have obvious signs and symptoms at birth. Other defects are subtle and not always recognized at birth. Detection of congenital heart disease in individuals with CdLS may be delayed. Short stature and failure to thrive may be attributed solely to the CdLS, when congenital heart disease may be playing a role as well. It is recommended that every individual diagnosed with CdLS be evaluated by a pediatric cardiologist.

Dental problems include small jaw development, poor oral hygiene, crowded teeth, small teeth, periodontal disease and the erosion of teeth caused by stomach acids from reflux.  Individuals diagnosed with CdLS require early dental evaluation, treatment, planning and preventative home care. The oral structures are greatly affected with this syndrome. Growth and development concerns of the jaws and teeth must be assessed at a young age.

Cleft palate is common and necessitates pediatric dental involvement shortly after birth. Not only does this repair improve the ability to eat and reduce the likelihood of ear infections, it enhances the speaking process.

Individuals who are unable to communicate pain or discomfort and who are uncooperative in the dental office may need sedation. When indicated, using conscious sedation and performing a number of tasks at one time may optimize dental care as well as care for other medical conditions. Whenever an individual has anesthesia for dental care, consider other procedures that could be done concurrently.

Developmental skills are often delayed in individuals with CdLS.  Early intervention is indicated as soon as diagnosis is made as it appears to play a major role in the level of developmental achievement. An average IQ score in individuals able to be tested is 53, which is within the mild to moderate range of mental retardation. Acquisition of new skills continues throughout life without regression.

Developmental areas of strength include visual-spatial memory and perceptual organization, and thus the use of computers, tactile (touch) stimulation and visual memory may be of benefit over standard methods of verbal instruction.

Language is an area of weakness, and may be compounded by hearing problems. Fine motor activities should be stressed, especially those related to activities of daily living.

developmental chart specific for CdLS is available for use by practitioners and therapists.

Education is a cultural activity, with schools charged to prepare children for the life they will lead in the culture they will live. Education can be thought of as the other side of the coin from medical-related issues and, as such, needs to be addressed simultaneously. This means issues of assessment, individualized education plan (IEP) development, educational placement, curriculum adaptation and teaching techniques require special consideration and, in many situations, unique and creative modifications.

Factors to consider in educational planning include: the individual’s medical and health status, stamina, ability to manage sensory-motor demands, levels of arousal, communicative status, need for structure and organization, relevant goals and objectives, motivating and understandable activities and appropriate adaptations. Moreover, the individual with CdLS needs to be an equal partner in interactive and satisfying social experiences. Social equality rests, in part, on helping oneself as much as possible, communication abilities, contribution to others and shared experiences.

All individuals with a new diagnosis of CdLS should have a complete eye assessment with an ophthalmologist. While some conditions are easily detected by parents, others may be hidden, therefore, an exam should take place even if there is no evidence of eye problems. Common eye concerns are included below.

Strabismus is a misalignment of the eyes, most commonly turning in or wandering out. While casual observation may detect a large degree of misalignment, an exam can detect small amounts that are visually significant to the patient. Glasses or surgery can fix the problem. Sometimes, the amount of strabismus is small and does not require treatment.

Nystagmus or “shaky eyes” may be detected by the caregivers. While some cases of nystagmus are congenital and evident immediately at birth, others are not detected until early childhood. An exam helps determine if the nystagmus is due to a correctable problem.

Individuals with CdLS may have very severe myopia (nearsightedness), with either no outward signs or with lack of visual attention as the main sign. An exam by an ophthalmologist will detect myopia, which may be corrected with glasses. Because myopia increases with age, a normal initial eye exam should be followed with periodic exams in the future.

Ptosis (pronounced TOE-sis) is a drooping of one or both eyelids. If mild or moderate in nature, individuals may lift their chin to “look under” the drooping lid. In severe cases, the ptosis may cover the center visual axis and prevent the development of good vision. If the ptosis is severe enough, eyelid surgery is recommended.

Individuals who develop recurrent red eyes, crusting on the eyelashes, itchy eyes, tearing, or eye discharge should also see an ophthalmologist. These symptoms may indicate a blocked tear duct or blepharitis—a condition in which the 20-30 glands normally present in each eyelid have sub-optimal flow. While rare in the general pediatric population, this condition is extremely common in patients with CdLS, affecting nearly half. Eyelid shampooing or gentle eye lid scrubs often result in dramatic improvement of the blepharitis symptoms.

Many individuals with CdLS may not engage in normal gaze behaviors. Gaze averting (looking away from a person or object) happens for a number of reasons. It may give the individual time to process visual information, it may mean the individual perceives the task as too difficult, or it may mean the individual is feeling uncertain or stressed. Individuals with CdLS may also use peripheral vision more frequently than central direct gaze because they have greater difficulty choosing what should receive their attention. Simply put, they may get visually overwhelmed easily. Presenting toys or objects more slowly or giving the individual fewer visual choices is helpful.

Individuals with CdLS may develop self-injurious behavior that can damage the eye. Any signs of self-induced eye injury should prompt a visit to the eye doctor. The ophthalmologist can rule out treatable eye-related causes, although they are rare. If no cause is found, medication may be used to decrease the self-injury.

Feeding issues that may arise include sensitivities to the temperature, texture or taste of food, as well as sensitivities to environmental aspects (light, noise, room temperature) or social aspects (who is present during feeding or the person doing the feeding).  Gastroesophageal reflux can be a factor, as well as transitioning from tube feeding to oral feeding.

Individuals with CdLS who have difficulty eating should have a feeding and swallowing evaluation. Speech-language pathologists can provide strategies for feeding once an evaluation is complete.  Likewise, trained nutritionists can help caregivers provide a well-balanced diet for proper growth and development. They can also supply information concerning appropriate food substitutes and ways to help solve common problems like constipation, diarrhea and stomach upset.

Daily Caloric Requirement Chart

Gastroesophageal Reflux Disease (GERD)
Many different diseases of the lung, ear, nose and throat, as well as feeding difficulties and behavior problems, are thought to stem from the regurgitation of acid (reflux). Gastroesophageal Reflux Disease (GERD) is the term that collectively describes the different problems and diseases that can occur. The pain from GERD can interfere with appetite, social activities and sleep. If an individual with CdLS cannot verbally report symptoms, he/she may show changes in behavior that reflect chronic pain, such as irritability or self-injurious behaviors.

Patients with CdLS, who present with chronic pain thought to be related to the GI tract, should undergo a standard acid-reflux evaluation. The treatment for reflux usually consists of special diets, medications and elevating the body after eating. If these treatments are not successful, surgical procedures such as a Nissen fundoplication or a gastrostomy may be necessary. The Nissen results in a narrowing of the lower esophagus and the gastrostomy provides a hole in the stomach, which allows feeding by a gastrostomy tube and provides an outlet for stomach gases.

Sandifer Syndrome, which is sometimes seen in individuals with CdLS, is characterized by severe gastroesophageal reflux and unusual body movements such as wiggling and moving constantly, turning the head to one side or throwing the head back.