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Problems with the Senses


Problems with the Senses

The eyes and the visual system

Facial features of CdLS are similar in both adults and children. Some individuals with CdLS may have facial features that make them seem older than their actual age. Eyebrows meeting in the middle, thick eyebrows and long eyelashes are very common in individuals with CdLS. They are considered hallmark features of the syndrome.

Ptosis (inability to fully open the eyes) is also common and can occur in one or both eyes (26,97,98). If an individual’s vision is significantly affected by ptosis, surgical correction can be considered, particularly if the individual is lifting their chin in attempt to see more clearly and it is affecting the individual’s ability to move around. Surgical correction should also be considered if ptosis has caused a lazy eye or vision to become blurry (R36).

Blepharitis is also common in CdLS. It is a condition where the eyelids become infected and swollen. Symptoms can include excessive watering of the eye, recurrent conjunctivitis, crusty eyelashes, small lumps on the eyelid and itchy red eyelids. These symptoms can be bothersome, particularly for young children (97,99). Blepharitis in CdLS can be treated in the same way as in the general population. Treatment includes eye lid hygiene using baby shampoo or eyelid scrubs (R37). If symptoms of blepharitis do not improve with lid hygiene, one or both tear ducts may be blocked or obstructed (R41). Blocked tear ducts can be treated using a surgical probing and irrigation procedure. Surgical probing and irrigation unblock the tear ducts and should be considered if other treatment for blepharitis is not successful (97,98).

Individuals with CdLS often experience visual impairment (3,41,98). Usually, individuals with CdLS are short-sighted (myopia). This means that distant objects appear to be blurry whilst close objects can be seen normally. Far-sightedness is less common in CdLS (98). Short-sightedness and far-sightedness are not eye diseases or eye health problems, they are simply a problem relating to how the eye focuses light. Individuals with CdLS may also have astigmatism, in which the outer layer of the eye is curved, causing blurred vision.

Vision should be assessed regularly in all individuals with CdLS, especially in infancy and childhood (R38). Correction of short-sightedness, far-sightedness or astigmatism should be performed as early as possible to prevent lazy eye. Children may have difficulty tolerating glasses or contact lenses, especially as self-injurious behaviour in CdLS may include hitting, pressing or poking the eyes. Surgical procedures, such as laser eye therapy, can help to improve visual function (100).

Some individuals with CdLS have been reported to have abnormal optic nerves (98). Another finding is a ring of pigment found around the optic nerve, seen on an eye exam in over 80% of children with CdLS, although this does not cause any harm. There is risk for retinal detachment in CdLS, either due to very severe near-sightedness or self-injurious behaviour relating to poking the eye.

A small number of individuals with CdLS may have nystagmus (rapid, involuntary eye movements) or strabismus (where one eye looks directly at the object they are viewing, while the other eye is misaligned) (97,98). In the case of strabismus in CdLS, strategies for the general population should be followed.

Ears and hearing

Typically, individuals with CdLS have ears that are set lower, are hairy and are atypically formed. Some individuals may have small and narrow ear canals (ear canal stenosis) (101). Ear canal stenosis is associated with external ear and middle ear abnormalities, such as:

  • Atypically formed small bones in the ear
  • Impaired function of the cochlea (portion of the ear that receives sound vibrations and sends them to the brain to interpret)
  • Impaired function of the vestibules (which are important for a person’s sense of balance)
  • An inflamed middle ear (102,103)

Scans of the ear indicate that increased ear abnormalities are associated with a higher degree of hearing loss in CdLS (103). Hearing loss is very common in CdLS and occurs in 85-90% of individuals (101,104,105). Usually hearing loss in CdLS affects both ears. It is typically present from infancy and can range from mild to severe (101). Loss of hearing in CdLS can be caused by abnormalities in the inner ear (sensorineural hearing loss) and outer ear (conductive hearing loss) (105). Persistent middle ear infections (otitis media) often results in conductive hearing loss (101,104,106).

Ear infections and infection of the sinuses (sinusitis) are common problems in adults with CdLS (107). Regular eye (ophthalmologic) and ear, nose and throat (otolaryngologic) assessments are recommended (R40).

As hearing loss is common in CdLS, all individuals should have their hearing assessed at an early age and hearing assessments should continue long-term (R39). Individuals with CdLS often find it difficult to have their ears inspected and sometimes sedation may be needed. Initial auditory assessment should test a person’s ability to hear sounds (standard audiometric testing) and how well the inner ear is working (otoacoustic emissions testing) (108). Occasionally, individuals with CdLS may experience severe hearing loss caused by an inner ear abnormality. These individuals should be assessed for auditory neuropathy, a hearing disorder in which the inner ears successfully detect sound but has trouble sending sound from the ears to the brain. Tests are available to assess whether the brain is receiving the correct information from the inner ear (auditory brainstem response audiometry) (106,108). It is important that hearing loss is identified quickly in individuals with CdLS to maximise communication skills (101). Hearing has been found to improve over time in 50% of adults with CdLS (106).

Treatment options for hearing loss vary according to the type and severity of the loss. Middle ear infections and sinusitis should be treated according to the national guidelines for the general population (R41). Treatment for infections usually involve relieving pressure or draining fluid from the middle ear. Sometimes treatment options may include mastoidectomy, a procedure which removes infected cells from the ear (102). Hearing loss may also be treated by using hearing aids, however, hearing aids are often poorly tolerated by individuals with CdLS (109). Other treatment options for hearing loss include a cochlear implant or surgical correction of small bones in the ear that have formed atypically. A cochlear implant is a device that replaces the function of the damaged inner ear by providing sound signals to the brain. Cochlear implantation has resulted in variable levels of hearing gain (110,111).

Nose and throat

In individuals with CdLS, the nose is often characterised by a low, inward curving nasal bridge and easily visible nostrils. Recurrent sinus infections are common in CdLS and are thought to be caused by an atypically structured nose and impaired immune system (55). Some individuals with CdLS have been reported to have soft, painless growths on the lining of their nasal passages or sinuses (nasal polyps) (2).

Treatment of sinus infections in CdLS is the same as for the general population (112,113). If an individual with CdLS has an immune deficiency (where the body has a lower ability to fight infection) more aggressive treatment may be required. This could include immunoglobulins (antibodies that fight infection) and antibiotic treatment (62).

Intubation (inserting a tube through the mouth into the airway during medical procedures) can be difficult in individuals with CdLS. This is because individuals usually have a small mouth, small chin, short neck, stiff jaw joints and cleft palate (52,114). Therefore, anaesthesiologists should be made aware of the potential difficulty with intubation in individuals with CdLS before surgery (R42).

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Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

Page history
Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      


  

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