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What health difficulties might a child with CdLS face?


Research shows that children and adults with CdLS tend to suffer from more health problems compared to other individuals with intellectual disability. The health difficulties that occur most frequently include eye problems, stomach/intestinal issues, genital problems and limb abnormalities.

Gastrointestinal Problems

Gastrointestinal problems are one of the most common health problems in CdLS. Difficulties with the upper gastrointestinal tract, including the oesophagus, stomach and upper small intestine are common. Many gastrointestinal problems in CdLS are present from birth and often constrict or block areas of the digestive system. Frequent gastrointestinal problems include:

  • Duodenal Atresia. Duodenal Atresia is the blockage of the duodenum bowel which prevents food and fluid passing from the stomach to the intestines.
  • Annular Pancreas. A ring of pancreatic tissue constricts the duodenum bowel which adjoins to the stomach. This can block or impair the flow of food to the intestines (80).
  • Imperforate Anus. This is where the opening to the anus, where stools leave the body, is missing or blocked (81).
  • Meckel Diverticulum. This is a slight bulge in the small intestine. It is often present at birth and is left over from the umbilical cord (59).
  • Congenital Diaphragmatic Hernia. This is where there is a hole in the diaphragm (muscles under the lungs that are responsible for breathing) allowing organs from the abdomen to move into the chest (82,83).
  • Pyloric Stenosis. Pyloric Stenosis is where the opening from the stomach to the first part of the small intestine is smaller than usual. It occurs in up to 7% of patients with CdLS (2, 35).
  • Inguinal Hernia. An Inguinal hernia occurs when part of the bowel pokes through the groin due to a weakening in the groin muscles. Inguinal hernias are common in childhood in CdLS (2).

Every individual suspected or proven to have CdLS should be carefully evaluated for signs and symptoms of any of these gastrointestinal problems that are likely to be present from birth (R28).

Intestinal malrotation

A small number of individuals with CdLS have been reported to have intestinal malrotation (10,2). This is an abnormality that can happen early in pregnancy when a baby’s intestines do not form into a coil in the abdomen. Malrotation means that the intestines (or bowels) are twisted, which can cause a blockage. Intestinal malrotation may recur during infancy, childhood or puberty (84,85). 

Usually, the first sign of intestinal malrotation is volvulus. Volvulus is a complication of malrotation that occurs when the intestines twist in such a way that the blood supply to part of the bowel is cut off.

Due to a lack of awareness by physicians, atypical symptoms and difficulty in effective communication in individuals with CdLS, intestinal malrotation may go undiagnosed. Intestinal malrotation should be considered in any individual with CdLS who experiences intense abdominal pain, regardless of the individual’s age (R29). Evaluation for the presence of intestinal malrotation should be discussed and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS (R30).

Constipation

Constipation is common in CdLS and occurs in almost half of all individuals with the syndrome (2,73,3,59). 

Treatment for constipation in CdLS is the same as for the general population (R31). Diarrhoea, gassiness and lactose intolerance are also fairly common in CdLS (2).

Gastro-oesophageal reflux

The most common and severe gastrointestinal problem in CdLS is reflux, otherwise known as gastro-oesophageal reflux disease (GORD) (88,89). GORD is a condition in which a weakness in the muscles above the stomach allows stomach acid to travel into the oesophagus.

GORD tends to persist or worsen with time. GORD is more common in individuals with CdLS caused by changes to the NIPBL gene (3,91). GORD is also common in other individuals with CdLS who display the classic CdLS phenotype (92).

Symptoms of reflux can be highly variable and can include feeding problems, poor appetite, vomiting, belching, heartburn, failure to thrive, agitation, restlessness or poor sleep. Sometimes GORD may be related to a change in behaviour, such as increased self-injurious or aggressive behaviour (3,90), abnormal positioning of the body, or irritability (R32).

Reflux can sometimes be ‘hidden’ if a person does not vomit or belch. Hidden or ‘Silent Reflux’ could be occurring if refluxing stomach acids rise into the oesophagus without heartburn or other symptoms. This can be dangerous because this material contains gastric acid, and enzymes that may cause harm to the lining of the oesophagus, leading to scarring and narrowing of the food-pipe (2,93,59). This may only present as difficulty swallowing, choking or vomiting and aspiration. ‘Silent Reflux’ may be more common in CdLS. It may be helpful to be aware of the behavioural signs or indicators of pain and discomfort (see the ‘Pain and Behaviour’ section) when obvious signs of reflux are not apparent.

Other signs of reflux include back arching, teeth grinding, lying over objects, constant fidgeting and movement, increased salivation, bad breath, hesitation when eating food and attempting to put objects or hands down the back of the throat. These behaviours do not mean that reflux is definitely occurring, and further investigation is required by a GP or paediatrician. It is important that these signs are monitored regularly.
First-line treatments for GORD include changing nutrition and proton pump inhibitors (PPI). PPIs are a group of drugs which reduce the amount of acid made in the stomach. Individuals with CdLS appear to respond well to maximum dosages of PPIs (57,96) (R33). If individuals still experience reflux symptoms after changing nutrition or taking PPIs, doctors may consider looking inside the body to see what is happening using an endoscope (R34). Although there are surgical interventions for GORD, they are typically limited to individuals with CdLS who have not responded to changes in nutrition or medical treatments (R33).

Over many years refluxing stomach acids rising into the oesophagus can damage the cells lining the oesophagus. This is called Barrett’s Oesophagus. Damaged cells in the oesophagus are at increased risk of becoming cancerous (95). Several individuals with CdLS with long-term GORD have developed cancer in the oesophagus as young adults (92,94). It is important that all people with CdLS are regularly monitored for reflux and long-term follow-up is also recommended. This is because GORD is often chronic, which is a major risk factor for developing Barrett’s Oesophagus (95). The most reliable way to monitor reflux and Barrett’s Oesophagus is by repeated endoscopes, which puts substantial burden on the individual with CdLS and their family, particularly because anaesthesia is needed for the procedure.

Parents should be pro-active in seeking help from local doctors or GPs in relation to reflux. A paediatrician or gastroenterologist (a specialist in gastrointestinal problems) should discuss the pros and cons of monitoring Barrett’s Oesophagus with the family and, if possible, the individual with CdLS. Families and doctors should decide together what treatment or care is the best for the individual (R35).

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).

The musculoskeletal system

Children and adults with CdLS usually receive rehabilitation services across their lifespan. Adaptive equipment can help enhance individuals motor functions and mobility, increasing their quality of life. Equipment may include orthotics (e.g. splints and braces), tripods (walking stick), and wheelchairs. Safety equipment (for example, helmets, door alarms and seat belt harnesses) limits the risk of injuries and should be considered for every individual with CdLS.

Musculoskeletal problems are common in CdLS. Major limb defects appear to be more frequent in individuals with CdLS caused by a change in the NIPBL gene than in individuals with other changes that cause CdLS (3,11,25,26,115).

Upper limb abnormalities:

Major limb defects are almost always found in the upper limbs. Often, the right side is the more affected side (115,116). Major limb abnormalities may include:

  • An absent forearm
  • Atypical connection of the bones in the forearm (radioulnar synostosis)
  • Missing radius or ulna (bones in the forearm)
  • Underdevelopment of the radius bone or radial dislocation (117)
  • Fewer than five fingers or toes on a hand or foot (oligodactyly)
  • More than five fingers or toes on a hand or foot (Polydactyly)
  • Small hands

Minor limb abnormalities such as proximally based thumbs (thumbs attached close to wrists) or curvature of the little finger (clinodactyly) are common in CdLS (3,115,116,117,118). Research has indicated an association between major limb abnormalities, organ abnormalities and more marked intellectual disability. It is likely that the association can be explained by a change to the NIPBL gene in individuals with CdLS with major limb abnormalities (3,25,115,118).

Physical function is usually remarkably good in individuals with CdLS who have major limb abnormalities. Therefore, physical therapy (physiotherapy) or surgical procedures are usually not required (R43). Prosthetic devices may be used to aid physical function, however, individuals with CdLS may find difficulty tolerating them. Specific devices, such as devices enabling independent eating, are available and usually tolerated (R44). When considering the treatment of musculoskeletal (muscle and skeleton) problems in CdLS, parents and doctors should consider the individuals prognosis regarding development and mobility (R45). Minor limb abnormalities usually do not require therapeutic interventions.

Lower limb abnormalities:

Major lower limb abnormalities are rare in CdLS (46,119). Approximately half of people with CdLS have minor differences in the length of their legs. Leg length differences should be assessed at regular medical check-ups (R46). A small number of individuals with CdLS have a hip disorder due to reduced blood flow to the thigh bone. Hip dislocations may also occur in later life, especially in individuals who are wheelchair bound or bed-ridden (118). Lower limb abnormalities should be managed in the same way as for the general population. Preventative measures are important and can include physical therapy or orthoses (e.g. a brace or splint to support the limbs). Sometimes Botox injections or surgery can be beneficial (120).

Individuals with CdLS frequently experience minor lower limb abnormalities. Individuals may have small feet, toes that are joined together, short fourth toes or inward curving big toes (hallux valgus) (3,10,59). Hallux valgus is often referred to as a ‘bunion’. Bunions are common in adults with CdLS and may cause walking difficulties, though often surgical repair is not required (59,118).

Tight hamstrings and Achilles tendons are fairly common in CdLS. Contractures (permanent shortening of a muscle or joint) can also occur in a small number of individuals (59,115). Contractures in CdLS usually occur in the knees, elbow and/or hip, which can interfere with movement e.g. sitting, standing and walking (118,122).

Scoliosis:

Scoliosis is a sideways curvature of the spine. It develops in approximately 30% of individuals with CdLS by 10 years of age (118) and is common in adults with decreased mobility (59). Scoliosis in CdLS should be assessed at regular medical check-ups (R46). 

Management of scoliosis in CdLS is the same as for the general population and scoliosis surgery appears to be effective. Decisions regarding surgery in CdLS should take the prognosis for development and mobility into account. Spine malformations are very rare in CdLS and usually there are no symptoms (121).

Neurology

Seizures are common in the CdLS spectrum (2,3,31,1231). A seizure is caused by an abnormal discharge of electrical activity in the brain. The most common type of seizure in CdLS is partial epilepsy. Partial epilepsy is where a seizure occurs in just one area of the brain. It usually develops before 2 years of age in individuals with CdLS (124,123). Individuals typically respond well to standard epilepsy therapy, such as sodium valproate medication (124) (R47). Very rarely, anoxic epileptic seizures can also occur in CdLS, which is the result of insufficient blood flow to the brain (125).

The autonomic nervous system is responsible for controlling bodily functions without a person needing to think about them, for example, breathing, heartbeat and digestion. Most individuals with CdLS have mild abnormalities in their autonomic nervous system and approximately 25% of individuals with CdLS will have marked abnormalities (2). Dystonia (uncontrolled muscle movements) and catatonia (apparent unresponsiveness and inability to move) are rare in CdLS (126,127).

There is some evidence that individuals with CdLS have sensory deficits and temperature insensibility. This means that the part of the nervous system associated with pain and sensation might not be sending the right signals to the brain. For example, in an individual with temperature insensibility, the nervous system may not send signals to the brain to indicate that boiling water is too hot for the skin. Such sensory deficits could be linked to self-injurious behaviour in CdLS (3).
Some individuals with CdLS may have structural changes in the brain. Brain abnormalities are especially likely in individuals with CdLS caused by a change to the NIPBL gene (128,129). Structural brain abnormalities can affect the cerebellum (the area of the brain controlling movement and coordination), the brainstem (which helps to control breathing, blood pressure and temperature), and how parts of the brain are linked together (130). Brain abnormalities are not associated with behaviour in CdLS (131). Spinal cord abnormalities are rare in CdLS (129,132). MRI (a scan) of the brain should only be done if there are neurologic abnormalities seen in the individual with CdLS (R48). Tethered spinal cord has been reported in CdLS and an MRI of the spinal cord could detect this if this was suspected.

Sleep

Sleep-related difficulties are very common in CdLS and can begin as early as infancy (135). Difficulties can include insomnia (difficulty falling and/or staying asleep), apnoea (breathing temporarily stops during sleep), daytime drowsiness and frequent daytime napping (90,133,134,135,136).

Approximately 60% of individuals with CdLS are affected by insomnia and some affected individuals are reported to go for several days without sleep (135). Snoring is also fairly common in CdLS and can lead to daytime drowsiness (134,136). Sleep-related difficulties in individuals with CdLS can have serious consequences. Behavioural sleep interventions and melatonin can be helpful in treating sleep problems in CdLS (R49). Sleep-related difficulties are less common in adults with CdLS. Research suggests that sleep difficulties spontaneously improve over time.

summary section

What health difficulties might a child with CdLS face?

R28: Every new born suspected or proven to have CdLS should be carefully evaluated for signs and symptoms consistent with gastrointestinal malformations.


R29: Presentation of any abdominal symptoms in an individual with CdLS, irrespective of age, should prompt consideration of intestinal malrotation.


R30: Evaluation for the presence of intestinal malrotation needs to be discussed and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.


R31: Constipation is present in almost half of all individuals with CdLS and should be treated as in the general population.


R32: Consider always gastro-oesophageal reflux disease (GORD) in any individual with CdLS owing to its frequency and wide variability in presentation, which includes challenging behaviour.


R33: Modification of nutrition and proton pump inhibitors (PPI) are the first-line treatments of GORD. Anti-reflux medications need to be used to their maximum dosage. Surgical interventions for GORD should be limited to those individuals with CdLS in whom nutritional and medical treatments have been unsuccessful or airway safety is at risk.


R34: If GORD symptoms persist, endoscopy should be strongly considered whilst an individual with CdLS is still in paediatric care.


R35: Surveillance for Barrett’s Oesophagus needs to be discussed with and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.


R36: Surgical correction of ptosis should be considered if vision is significantly affected or if the individual is lifting their chin in attempt to see more clearly and it is affecting the individual’s ability to move around.


R37: Blepharitis in individuals with CdLS should be treated conservatively with lid hygiene. Nasolacrimal duct obstruction (blocked tear ducts) should be suspected if symptoms are not improved with lid hygiene.


R38: Vision should be regularly evaluated in all individuals with CdLS, especially in infancy and childhood. Problems with vision should be corrected early to prevent amblyopia (lazy eye), although children may have difficulty tolerating glasses or contact lenses.


R39: Hearing should be assessed in individuals with CdLS at an early age and should be followed up over time. Those with severe sensorineural hearing loss should be assessed for auditory neuropathy.


R40: Regular eye (ophthalmologic) and ear, nose and throat (otolaryngologic) evaluations are recommended in adults with CdLS.


R41: Otitis media (middle ear infections) with fluid build up and sinusitis in individuals with CdLS should be considered and treated according to the national guidelines for the general population.


R42: The anaesthesiologist should be aware of the potential difficulty with intubation in individuals with CdLS.


R43: As function is often remarkably good in major limb anomalies, caution is recommended regarding surgical procedures in individuals with CdLS.


R44: Prosthetic devices targeting a single function should be considered depending on the needs and tolerance in individuals with CdLS.


R45: Prognosis regarding development and mobility should be taken into account when considering treatment of musculoskeletal problems in individuals with CdLS.


R46: Scoliosis and leg length differences need specific attention in adults with CdLS at regular medical check-ups.


R47: Seizures in individuals with CdLS should be treated using the general management schemes.


R48: An MRI of the brain should be considered only if the individual with CdLS shows neurological signs other than microcephaly (smaller than normal head).


R49: Sleep problems in individuals with CdLS can have serious consequences, and behavioural sleep management should be considered.


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

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Modificado por Gerritjan Koekkoek em 2023/08/29 13:53
Criado por Gerritjan Koekkoek em 2019/03/27 15:09

                                                                                                                                                                                                                                                                                                                                                                                                                                                                  

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