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Winter 2000 Table of Contents
Versión Español de este artículo (Spanish Version)

Education Protocol for Cornelia de Lange Syndrome

Editor's note: Recently I visited the Cornelia de Lange Foundation, Inc. website in search of information for a classroom teacher. I came across this wonderful article, one of the many interesting things available at this site. I would encourage families and professionals who want to learn more about CdLS to visit this site if they haven't discovered it already. There web address is <http://cdlsoutreach.org>. My thanks to CdLS Foundation for giving their permission to reprint this article for our readers.

Cornelia de Lange Syndrome (CdLS) has great variability in its manifestation, from those individuals who are visually recognizable as having CdLS to those who, to the uninitiated observer, display no unusual physical and/or behavioral characteristics. A common characteristic, however, is that numerous infants, preschool and school-age children with CdLS have a range of significant medical and health issues that consume parental physical, emotional and financial energy and the attention of numerous professional disciplines. Many children diagnosed with CdLS also present another set of concerns, namely in the area of communication and behavior. Planning and providing appropriate quality educational services for children who have CdLS must consider the influence and interplay of both sets of issues and concerns.

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 the medical and health-related issues and, as such, needs to be addressed simultaneously.

PHYSICAL, ENVIRONMENTAL, INSTRUCTIONAL & SOCIAL CONSIDERATIONS FACTORS TO CONSIDER

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 ones self as much as possible, communication abilities, contributions to others, and shared experiences.

1. 1. Medical-Health Related Issues: There is a critical need for family, medical-health personnel and school staff to communicate with each other around issues affecting health. School staff needs to be sensitive to those periods when there is a flare-up of gastro-esophageal reflux. Staff also should be informed of food allergies and strictly adhere to dietary limitations. Lastly, staff needs to distinguish between those periods of fidgeting and non-attentiveness due to discomfort and pain vs. those periods when the behaviors are due to other causes. The situation, of course, is easier to understand and manage if the student has expressive language.
2. 2. Communication: Any discourse on education must involve the discussion of communication. We cannot transmit or receive information unless we communicate. Children with CdLS are at risk for delayed or absent speech, difficulty in understanding the subtle nuances and pragmatics of language and auditory sensitivity to a barrage of speech sounds. Speech is very difficult for many individuals with CdLS due to oral-motor apraxia. These children do not choose not to talk but find the coordination and production of the motor actions extraordinarily difficult - especially under typical school-like demand situations.
   1. While speech may be the ultimate goal for those children who currently do not talk or find talking difficult, they need a way to express themselves now so they may be more active participants in the educational process. There are a variety of educational techniques that can be employed to help these children communicate right now while they simultaneously work on the higher goals of speech production.
   2. Speech may not be a realistic goal for some children with CdLS. There are, however, a great many other educational techniques that can be employed for very effective communication. These techniques are very reliable regardless of the country, culture and/or the education program.
   3. Signing may/may not be an effective route for some children due to such receptive difficulties as (1) poor visual attention, (2) a visual handicap and/or (3) the transient/spatial/speed nature of sign. Expressive difficulties may be difficult due to factors such as (1) upper limb malformations, (2) dyspraxia (difficulty in performing smooth, rhythmical and sequential hand motions), (3) memory for motor movements and so forth.
   4. Although most children with CdLS are said to have visual-perceptual strengths, this does not necessarily mean they understand all forms of visual stimuli. Visual regard for two-dimensional representation (pictures, line drawings, photographs, print) does not automatically mean there is understanding of this form of symbolic representation. An assessment of such understanding is highly recommended.
   5. Technology provides many options for augmenting communication and has been a major boon for persons who have disabilities. However, computers and other high tech devices are not the answer for every child. There are basic skills that must be learned in order to use this technology effectively as communication and learning devises. Students need both a basic understanding of the communication process and of the concrete world of objects before they are able to manage the abstract world of symbols.
   6. In general, children who have multiple disabilities are at very high risk for missing out on numerous incidental learning experiences that typical children pick up so easily. These types of experiences center around the concrete world and bring together the visual, hearing, touch, doing foundation necessary to manage the abstract world of symbols.
3. Vision: Myopia (near sighted), amblyopia (lazy eye affecting depth perception), chronic conjunctivitis-appearing eyes, and dry eye syndrome (making the eyes feel as if they have sand in them), photophobia (light sensitivity) and ptosis (droopy eye lids) are common visual problems. Students with these symptoms may need drops for lubricating their eyes and eye washes done in school. They also may need (1) preferential seating close to the blackboard, (2) assigned seating facing away from the windows or other sources of glare due to their light sensitivity, (3) adapted but non-glare lighting to highlight the specific work area, (4) special printed materials if vision is limited even with corrective lenses, and (5) alternating work requiring fine visual functional skills from work requiring less fine visual performance in order to reduce fatigue. Fatigue may result from the need to constantly shift head positions to accommodate to the ptosis. Teachers should know if glasses have been prescribed for the student and what is the recommended pattern for wearing them. Sometimes glasses are prescribed for specific activities. If the student has use of only one eye, it may be helpful to know if safety glasses should be worn during certain activities. Some students will have a documented visual handicap and will require the services of a trained teacher of the visually impaired.
4. Hearing : Students may have a documented hearing loss or fluctuating hearing requiring close communication and coordination with the pediatrician and with audiologist. Such students may require use of hearing aids, A FM system and/or preferential seating near the teacher. If either hearing aids or a FM system are prescribed, staff should be aware of how to adjust the settings, how to work with the ear molds, and the best times to use the equipment. Other children with CdLS may have delayed responses to auditory stimuli which require that they be given time to process the auditory information and plan their responses. Some students will require the services of a trained teacher of the hearing impaired.
5. Vision & Hearing: Some students with CdLS have both a vision and a hearing impairment. These students are considered deafblind and require very specialized teaching. Deafblindness is not a simple "one plus one equals two" but rather, presents significant risks in learning due to the impact of the dual sensory disability on the development of a language system. Teaching techniques oriented toward children who are visually handicapped rely on intact hearing and touch. Teaching techniques oriented toward children who are hearing impaired rely on vision. When neither sensory modality is intact or reliable, alternative communication techniques need to be utilized. Moreover, the efficiency in which a deafblind individual is able to use their residual vision and hearing is highly influenced by stress, health, medications, fatigue, background noise/visual clutter, size/distance/plane of presentation/etc. of the visual stimulus, speed of presentation, competing sensory stimuli and many, many other factors interwoven with each other. All children who have combined visual and auditory disabilities require the services of a trained teacher of the deafblind.
6. Visual & Auditory Processing: Many children who have both visual and auditory disabilities have associated problems in processing and understanding the visual and auditory messages. Cortical visual processing problems are the biggest single cause of visual handicaps in the United States. In most of these situations, central auditory processing problems also exist. We do not, at this time, have enough data to provide information on the incidence of these cortical processing problems with individuals who have CdLS. However, prematurity, a history of difficult birth and neonatal period, and/or anoxia, place a child at risk.

A FEW STRATEGIES

1. A well organized routine and predictable, calm, organized environments seem most conducive for students with CdLS. Schedule and calendar systems via objects, pictures, line drawings and/or words can help the student anticipate and prepare for changes in the schedule. Such schedules should be in the format the student most easily understands.
2. Allowing time for the student to process, plan and implement a response to sensory information is essential. The number and pacing of activities may have to be individualized - especially for those students who have limited stamina, endurance and ability to control their own state of arousal. Take advantage of the visual strengths the student may have by orally giving the directions, then visually present the questions and/or demonstrate the method, and end by giving the oral directions again. Time constraints potentially may add to the stress, which, in turn, will reduce processing time further.
3. Many of the students perform better with concrete learning experiences. For example, applying math principles by going into the community to shop for needed items involves planning, reading, mobility, safety, social etiquette and so forth.
4. If handwriting is laborious, investigate the advantages of computer use for the student.
5. For those students in academic programs, some may need rest breaks to reduce their level of arousal. Simultaneously, many need specific tutoring or pre-teaching, in a resource room, to deal with subjects they find difficult in the mainstream.
6. Some of the students have a difficult time taking the initiative and making their needs known. They may find casual, recreational times with typical peers difficult because of the unpredictable nature of social events and anxiety in unfamiliar situations with unknown outcomes. To promote positive social-emotional growth in these students, determine the appropriateness of the student becoming a big sister/brother to a younger child and/or social skills training in a small group of socially-similar students.
7. Many students with CdLS, who also have significant additional disabilities are in inclusive environments. Most often these experiences are not really social because there is very little INTERaction. However, the students profit best from such techniques as A Circle of Friends and from structured and facilitated interactions with peers.

Editor's note: Below is some additional information that is available on the CdLS website.

FAMILY ISSUES

Whether an individual is diagnosed at birth, or at age two, five or twenty, receiving a diagnosis of CdLS can be overwhelming. A lifelong process of challenging and re-challenging feelings, thoughts, actions and beliefs may begin. There will be sadness, but there will also be joy. There will also be many decisions to be made, but they do not need to be made in isolation. There are many families and professionals ready to offer information, support and encouragement to people who request it.

Families may struggle to accept the diagnosis of Cornelia de Lange Syndrome. Shock, anger, denial, guilt, and sadness are common early responses. Most families adjust to their new situation, but protracted grief or depression in a family member should be treated. In addition to the initial adjustment, intermittent stresses throughout the life of the child may temporarily destabilize a family. The primary care providers should periodically inquire about family adjustment and continue to provide emotional support for the family.

Children may qualify for special services such as CAP/MR (Community Assistance Program for the Mentally Retarded) through the division of developmental disabilities at their local mental health center. Most children should be eligible for medicaid (independent of parents' income) which provides prescription coverage as well as physical, occupational and speech therapy. In addition, respite care should be suggested in cases where the caretaking burden is high. The Association of Retarded Citizens often has a respite program and also provides support for families.

BEHAVIOR

Although many children with CdLS have no significant behavioral problems, there are some conditions, which makes self-injurious behavior more likely to occur: pain, discomfort, frustration or dismay. The typical young person with CdLS may be described as hypersensitive and dysrhythmic. He/she may be hypersensitive in that he/she may have strong reactions to ordinary stimuli and these reactions may continue long after the stimulus is gone. He/she is sometimes dysrhythmic, that is having irregular patterns of behavior in the areas of eating, sleeping and emotional response.

The 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.

PSYCHIATRIC EVALUATION

Many of ordinary problems that children have can be dealt with by a pediatrician who has some developmental or behavioral experience. These would be minor problems with eating or sleeping, tantrums, or even hyperactivity. Many pediatricians are quite skilled in the first and second line drugs for impulsive and hyperactive behaviors.

Persistent behavioral difficulties including hyperactivity that does not respond to medication, severe impulsive behavior, oppositional behavior, aggression, or self injury, is the kind of treatment that will require the attention of a specialist in behavioral psychology or a child psychiatrist who has experience with the developmentally disabled. Sometimes, individuals need referral to an epilepsy specialist first, if there is suspicion of seizures. But the long-term treatment of serious behavior or emotional problems in individuals should almost always be the responsibility of a specialist in child and adolescent psychiatry, who has the appropriate background.

OPHTHALMOLOGY

All children with a new diagnosis of CdLS should be referred for ophthalmic assessment. In addition to problems which may be easily recognizable such as misaligned eyes (strabismus) or shaky eyes (nystagmus), ophthalmic examination is necessary to reveal possible nearsightedness (myopia) which might be quite severe yet otherwise go undetected. If the initial examination is normal, routine ophthalmic follow-up is usually not necessary unless new problems arise. However, it may be prudent to recheck for nearsightedness every few years until puberty.

Individuals who develop recurrent red eyes, crusting on the eyelashes, itchy eyes, tearing, or eye discharge should also see an ophthalmologist. Although the symptoms may mimic a blocked tear duct (nasolacrimal duct obstruction), they are more often due to blepharitis: an idiopathic condition in which the 20 - 30 glands normally present in each eyelid have sub-optimal flow. Rather than surgical treatment for a tear duct problem, baby shampoo eyelash scrubs can often result in dramatic improvement of the blepharitis symptoms. Older children with self-injurious behavior can seriously damage their eyeballs. Any signs of self-induced eye injury should also prompt an ophthalmic referral.

VISION

It is not unusual for children with this syndrome to be nearsighted, have recurrent red-eye, discharge or tearing or have ptosis of the eyelids. If ptosis is severe the children may lift their chins or arch their eyebrows in order to improve their vision. Many parents opt for surgery to correct the ptosis.

Many children with CdLS may not engage in normal gaze behaviors. Gaze averting may happen 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 direct gazing because they have greater difficulty choosing which of the varied stimuli should receive their attention. It also tends to be true that children who are lower functioning show greater sensory rejection and sensitivity to stimulation in their environment.

HEARING

People with CdLS may have very tiny structures and testing may be difficult. It is advisable to consult an audiologist and/or otolaryngologist who is familiar with CdLS or who is experienced in working with infants. Pharyngeal-esophageal tubes may be useful for middle-ear drainage as needed but a physician experienced in working with small infants is usually necessary.

If a hearing loss is suspected, headsets and hearing aids should be prescribed for infants and children. Even a mild hearing loss can result in a speech and language delay. Smaller aids are available so it is not necessary or advisable to use an adult-sized aid. If the child will not leave on the aid, an audiologist or behavioral therapist may be helpful. Appropriate audiological management should include selection and fitting of suitable amplification for all listening environments. While the child's personal hearing aid may be sufficient some of the time, the use of FM amplification may be necessary in other situations.

Almost all children with CdLS are diagnosed with mild to moderate and sometimes severe hearing loss, however interviews with caretakers reveal unexpected reports regarding the history of audiological results. Many caretakers 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 2 years. Since it is unusual for hearing to improve rather than worsen, it seems correct audiological assessment is difficult. Individuals with CdLS may have narrow ear canals and difficult behaviors, making examinations a challenge.

Parents often report their children seem to hear much better than their test results would indicate. Considerable confusion exists regarding hearing ability for some children. Many children fitted with hearing aids will not tolerate the use of them or do so only sporadically. For these individuals, retesting is often important to insure that the aid is beneficial. There have also been reports of young children fitted with adult-sized hearing aids when child-sized aids are available and more appropriate.

ORTHOPEDICS

In the more mildly affected children curving of the fifth finger (clinodactyly), small hands, a short thumb placed closer than usual to the wrist and some limitation of elbow motions are often present, with webbing of one or more fingers (syndactyly) less common. Abnormalities of the hip occur in five to ten percent of the children with CdLS and may interfere with the ability to walk. Surgery may be used to correct this condition.

Of greater relevance to communication because of the interference in the use of sign language or other augmentative strategies for communication are the more severe upper-limb malformations. In some cases, fingers, metacarpals and the long bones of the arm are absent.

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Last Revision: September 4, 2003