At each age, individuals with CdLS have specific medical, educational and social needs. Each child progresses at his/her own rate, but parents can expect a slower than average rate of physical and cognitive development when compared to their child’s peers.
The information below helps parents make informed decisions about how to help their child through the stages of their lives.
Treatment Guidelines for Preventive Care
The treatment guideline sheet highlights routine care for people with CdLS at different ages, including infancy, early and late childhood, adolescence, and adulthood.Download Management and Treatment Guidelines for CdLS here
Developmental Skills Chart
This 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).Download a Developmental Skills Chart here
Although many children 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 may have neurological impairment. They may also be prone to behavioral problems such as hyperactivity, short attention span, and oppositional or repetitive behavior.
Many of ordinary problems children have can be dealt with by a pediatrician who has developmental or behavioral experience. These would be minor problems 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 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 more subtle and not always recognized at birth. Detection of congenital heart disease in people 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. Children 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 (endoscopy, ENT exam, eye exam, etc.)
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.
A developmental chart (available here) 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 child'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 child 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 children 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, children 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.
Children 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 children 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 child time to process visual information, it may mean the child perceives the task as too difficult, or it may mean the child is feeling uncertain or stressed. Children 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 child 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 (see next section) 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.Download a 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 a person 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, thus allowing for feeding by a gastrostomy tube and providing 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.
Management of gastrointestinal (GI) complaints can be challenging. Problems based in the GI tract exist in a very high percentage of individuals with the syndrome. Complaints can originate from the upper GI tract, including the esophagus, stomach, and upper small intestine. Problems from these areas can be mild and easily manageable, such as occasional symptoms of vomiting, belching, heartburn, or intermittent poor appetite. As these symptoms become more severe, more consistent, and more difficult to overcome, they require a more comprehensive evaluation.
Complaints can also originate from the lower GI tract, which includes the large intestine, rectum and anus. These complaints can be mild and easily manageable, or severe. Problems with the lower areas of the GI tract typically involve the formation and passage of stool. Constipation, diarrhea and gaseous distension with cramping are common problems.
A formal assessment can be done by the child’s primary care physician and, if needed, by a gastroenterologist. Common studies done for both upper and lower GI tract problems include blood and stool tests, X-rays and endoscopic studies.
Children are often assessed by their weight and height on growth charts that show the average growth rate for typical children. Since children with CdLS are often compared to a typical child’s growth rate, many are incorrectly diagnosed with “failure to thrive.” Medical professionals unfamiliar with CdLS may also not recognize that although children with CdLS gain weight slowly, their growth is usually in proportion to their height throughout their lives.
Specific growth charts are available for height, weight and head circumference parameters of boys or girls with CdLS at different ages (below). Using these, the practitioner can follow growth as compared to other affected individuals.Download CdLS Growth Charts specific for males and females here
Most children with CdLS are diagnosed with mild to moderate hearing loss or even severe hearing loss; however this can change over time. Many report that their children were diagnosed as severely hearing impaired at birth, moderately impaired at 12 months, and mildly impaired or without impairment at age two. This may be due to the fact that Individuals with CdLS have narrow ear canals and difficult behaviors, making examinations a challenge. Because of this, it is advisable to consult an audiologist and/or otolaryngologist who is familiar with CdLS or who has experience working with infants.
Children with narrow ear canals may also have problems with chronic ear drainage or cholesteatoma (a collection of skin cells). They may also have recurrent ear infections or chronic ear fluid. Ear tubes, or pressure equalization tubes, may be useful. However, the placement of ear tubes should be performed by a doctor experienced in working with small infants or children with small ear canals.
If a hearing loss is suspected, a hearing test should be carried out by an audiologist and an ear evaluation by an otolaryngologist. Further hearing testing may be recommended based on this initial evaluation and/or hearing aids may be prescribed.
Curving of the fifth finger (clinodactyly), small hands, a short thumb placed close to the wrist, and some limitation of elbow motion are often present. Abnormalities of the hip occur in five to 10 percent of children and may interfere with the ability to walk. Surgery may be used to correct this condition.
Of greater relevance are the more severe upper-limb malformations, which make it difficult or impossible to use sign language or other augmentative strategies for communication.
The onset and course of puberty in individuals with CdLS appears similar to typical individuals, not only physically, but also emotionally and behaviorally. Some characteristics include mood swings, irritability, unexplained pain episodes, worsening behavioral problems, and aggression.
Menstruation may be a problem for caretakers, especially in females with communication difficulties. In addition, protection from potential pregnancy may be warranted since fertility appears to be normal or slightly decreased for both males and females. Several therapeutic modalities can be used, including hormonal treatment (oral contraceptives or Depo-Provera injection) and surgery (tubal ligation, hysterectomy). Together, the individual with CdLS, the family and the medical practitioner should determine the most appropriate course of action.
Speech and Language
It is not clear why some children talk and others do not. The absence of speech, or the development of only minimal speech, has been well documented, even in the more mildly affected. For a small percentage of individuals with CdLS, speech develops normally. For most, however, the ability to communicate is influenced by the developmental factors related to the syndrome, as well as access to early intervention programs and speech therapy. The decision to begin speech therapy should not be delayed.
Most children with CdLS exhibit errors in articulation, with sound substitutions and distorted or missing consonants. These errors are the result of a number of factors, including overall developmental delay, a smaller oral cavity, a retruded lower jaw, a tendency toward lower muscle tone, and hearing impairment.
In addition, most children with CdLS exhibit childhood apraxia of speech (CAS), a neurological disorder in which the precision and consistency of movements underlying speech are impaired. CAS may occur as a result of known neurological impairment, in association with complex neurobehavioral disorders of known or unknown origin, or as an idiopathic neurogenic speech sound disorder.
Augmentative and Alternative Communication (AAC)
One of the most challenging issues for people with CdLS is finding the best communication tool. It could be speech, signing, communication boards, computer programs, or some other means.
Examples of more formalized available AAC strategies include communication boards; American Sign Language; American Indian Hand Talk or Amer-Ind gestural code; Blissymbolics; Total Communication; Pantomime; a manual alphabet; eye-blinking encoding; or electronic communication aids. For children with severe upper-limb malformations there are gestural-assisted and neuro-assisted strategies available. Unfortunately, almost all augmentative communication strategies are difficult to learn for children who have difficulty understanding nonverbal or gestural communication.
Before considering the use of augmentative or alternative communication, a number of factors need to be considered. These include the level of cognition, motor abilities, receptive language abilities, and the motivation to communicate. Your child’s speech-language pathologist can guide you.