Take Test
Abstract
Moebius syndrome is a rare congenital disorder characterized mainly by the inability to move the eyes laterally or produce facial expressions such as smiling. Moebius syndrome creates physical problems for the affected individual that may, in some cases, lead to emotional or social adjustment issues, yet the syndrome is relatively unknown among healthcare professionals. Because early recognition of Moebius syndrome can lead to early diagnosis and treatment, education of nurses in perinatal, pediatric, midwifery, and neonatal specialties is crucial. Through early recognition, maternal-child nurses can offer anticipatory guidance and provide or recommend resources to parents of children with this neurological condition.
Moebius syndrome is a rare, little-known congenital condition. About 2000 people worldwide have been identified as having Moebius syndrome (Moebius Syndrome Foundation, 2007), with an estimated 800 of these individuals living in the United States (McCarrell, 2003). Because the 6th (abducens) and 7th (facial) cranial nerves are affected, the syndrome is characterized mainly by an inability to move the eyes laterally or produce facial expressions, including smiling. In some individuals with Moebius syndrome, other cranial nerves may be involved and additional physical differences may be present.
Healthcare professionals typically know little about the syndrome, and a diagnosis may not be made until the affected person is older or even an adult. The purpose of this article is to help nurses who work in perinatal, pediatric, midwifery, and neonatal specialties to become knowledgeable about Moebius syndrome so they can recognize it in babies and children. Early recognition can lead to early definitive diagnosis and supportive and/or surgical treatment. Maternal-child nurses also can offer anticipatory guidance and provide or recommend resources to parents of children with this syndrome.
Characteristics of Moebius Syndrome
Moebius is also spelled in the literature as "Mobius" and "Mobius," and because the syndrome can present with a variety of findings, the phrase Moebius "sequence or spectrum" is also seen in professional articles describing this syndrome. Moebius syndrome is characterized mainly by two signs: (1) mask-like facial expression or complete or partial facial paralysis (7th cranial nerve) (Calder, Keane, Cole, Campbell, & Young, 2000) and (2) lack of lateral eye movement (6th cranial nerve).
Other conditions that can occur in the spectrum include the following:
* weakness of muscles that control eye movement, leading to incomplete closure of the eye during sleep (6th cranial nerve) (Rizos, Negron, & Serman, 1998; Traboulsi, 2004)
* hypoglossia (12th cranial nerve-hypoglossal) (Calder et al., 2000)
* swallowing or sucking problems, difficulty swallowing with or without aspiration, drooling (9th cranial nerve-glossopharyngeal) (Calder et al., 2000)
* weakness of the palate (Rizos et al., 1998)
* missing primary and permanent teeth (Rizos et al., 1998)
* earlobe deformities (Rizos et al., 1998)
* thoracic abnormalities (scoliosis, pectoral hypoplasia or absence of the pectoral muscle, or other chest wall abnormalities) (Ouanounou, Saigal, & Birchansky, 2005)
* limb deformities (webbed, absent, short, or deformed digits, club foot, flat foot) (Ouanounou et al., 2005; Rizos et al., 1998; Verzijl et al., 1999).
The syndrome is classified and diagnosed by clinical findings. The acronym "CLUFT" (Cranial nerve, Lower limb, Upper limb, Face, and Thorax) is used for grading the syndrome based on "clinical findings of cranial nerve palsies and musculoskeletal anomalies" (Ouanounou et al., 2005, p. 430). Rizos et al. (1998) mention a classification of the syndrome according to these factors: (a) 6th and 7th cranial nerve palsy only, (b) arthrogryposis multiplex congenital (a rare congenital disorder characterized by decreased joint mobility) in addition to the cranial nerve palsy, and (c) associated limb anomalies in addition to the cranial nerve palsy.
Psychosocial Considerations
Individuals coping with facial paralysis may have difficulty adjusting to the paralysis and may suffer from "depression, guilt, anger, and denial" (Pedraza et al., 2000, p. 232). The inability to initiate facial movement may cause onlookers to believe that patients with Moebius syndrome have no emotions, which can lead to social isolation. Calder et al. (2000) presented case studies of three adults with Moebius syndrome, and despite their inability to generate facial expression themselves, their disability did not seriously harm their ability to recognize or interpret facial expressions in others.
Meyerson (2001) examined adults with Moebius syndrome for their sources of strength and resiliency and found that family support and humor were major sources of strength, as were "a desire for independence, a sense of self, and networking" (pp. 233-234). One participant reported that she felt her face was capable of expressing a range of emotions even if others could not see them. The author listed strategies to enhance individuals' abilities to convey emotions without facial expressions, including "demonstrating pleasure through a positive voice, appropriate gestures, body language, and using enriched vocabulary" (Meyerson, 2001, p. 234). Some participants reported that by adapting and developing skills, they could overcome many problems associated with Moebius syndrome and prove people who underestimated their capabilities to be wrong.
Etiology of Moebius Syndrome
The definitive cause of Moebius syndrome is unknown or unclear. Briegel (2006) reported that the hypothesis most generally accepted for its etiology is disruption of blood flow to the brain stem caused by drugs or environmental insults, which then leads to the development of the characteristic cranial nerve anomalies. Rizos et al. (1998) and Suvarna, Bagnawar, and Deshmukh (2006) suggested that if an intrauterine injury is causative, it would occur at 4 to 7 weeks' gestation. The authors listed drugs such as misoprostol, benzodiazepines, and cocaine as possible causes of the disruption.
Use of misoprostol has been implicated in Moebius syndrome in several studies. Miller et al. (2004) studied possible Moebius syndrome patients in northeastern Brazil and examined the mothers in two groups: those who used a prostaglandin-type drug for self-induced miscarriage during early pregnancy and those who did not. Miller reported that misoprostol is popular in South America because it is relatively cheap and easy to obtain; unfortunately, according to Miller, when used alone, misoprostol "is a poor abortifacient drug, and many pregnancies continue to term" (Miller et al., 2004, p. 114). The study concluded that patients who took misoprostol had offspring with more physical anomalies than those who did not take the drug. Some of the anomalies included abnormalities of the jaw, ear, foot, and hand. Some participants also had mouth and tongue abnormalities and brain stem calcification (Miller et al., 2004). The authors concluded that Moebius syndrome may be associated with misoprostol taken in early pregnancy (Miller et al., 2004).
Another study that implicated misoprostol was reported by Pastuszak et al. (1998), whose study during the 1990s in Brazil included 96 infants diagnosed with Moebius syndrome. Almost one half of the mothers of these infants had used misoprostol in the first trimester. The authors of this study also suggested "an association between the use of misoprostol for attempted abortion and subsequent Mobius syndrome" (Pastuszak et al., 1998, p. 1884). Bandim, Ventura, Miller, Almeida, and Costa (2003) also suggested that misoprostol was associated with the Moebius syndrome diagnoses of 23 children in their study and that five other children met the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria for infantile autism, three of whom had been exposed to misoprostol. The authors concluded that their study supported the theory that using misoprostol during early pregnancy is correlated with hypoxia and subsequent tissue damage at a time when the embryonic brain stem is developing.
Abnormalities in three chromosomal areas have been identified as potentially causative, and several modes of inheritance, including X-linked recessive and autosomal dominant and recessive, have been proposed (Briegel, 2006). A few families have been identified in which several generations of individuals or several individuals in the same family have had Moebius syndrome, but most cases occur sporadically (Moebius Syndrome, 1966-2007). Traboulsi (2004) stated that genetic mutations can result in the abnormal development of a single cranial nerve or groups of cranial nerves. Rizos et al. (1998) reported an increased occurrence in marriages between blood relatives but no increased incidence based on gender or race.
Treatment of Children With Moebius Syndrome
According to the National Institute of Neurological Disorders and Stroke (2007):
There is no specific course of treatment for Mobius syndrome. Treatment is supportive, and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.
Rizos et al. (1998) indicated that because "the hereditary predisposition is greater" (p. 265) in certain manifestations of the syndrome, including face and eye involvement, primary prevention should be achieved through genetic counseling. They also contended that re-establishing even a small amount of controlled facial expression can be beneficial.
Plastic surgery for facial animation ("smile surgery") has been pioneered by Dr. Ronald Zuker (Zuker, Goldberg, & Manktelow, 2000). A portion of the gracilis muscle in the thigh with its attached blood supply is transplanted to the face; the motor nerve (5th cranial nerve-trigeminal) to the masseter muscle is used to innervate the gracilis muscle. Incisions are made in the groin for removal of the gracilis and near the ears and hairline for transplantation to the face. This technically challenging 8- to 9-hour surgery is performed on one side at a time on children as young as 4.5 to 5 years old and on individuals in their 50s. In addition to facilitating facial animation with the ability to smile, the surgery provides lower lip support and improvement in drooling, drinking, and speech (Goldberg, DeLorie, Zuker, & Manktelow, 2003) and dental protection. Improvement in self-esteem has also been noted for children who had self-esteem issues preoperatively (Zuker et al., 2000).
Common Problems in Children With Moebius Syndrome
Children born with Moebius syndrome have multiple health problems, including ophthalmologic issues, difficulties in feeding, poor dental health, difficulty with speech, and occasional issues with social acceptance. Some children with the syndrome have more extensive health issues and require interventions such as tube feedings, respiratory support, fitting of prostheses, and surgical correction of conditions such as strabismus and cleft palate.
Newborns with Moebius syndrome are unable to breastfeed or suck from a regular nipple and must be fed with a specialized device such as Medela's SpecialNeeds Feeder (formerly called the Haberman Feeder). Breast milk can be expressed and fed to the baby via this feeding device. Aspiration is a constant worry, and insufficient weight gain can occur in babies with Moebius syndrome.
After infancy, children with Moebius syndrome experience difficulty with eating solid food. Because they are unable to move their tongues well or completely close their mouths, they eat with their mouths open, may drool while eating (and at other times), and may inadvertently drop food from their mouths or leave food on their lips without realizing it. Children with Moebius syndrome can compensate by using their fingers to manipulate food at the mouth opening or promote lip closure while chewing. Some older children with Moebius syndrome have learned to use similar techniques to provide a seal so that they can use a straw.
Without thorough dental hygiene after eating, children with Moebius syndrome can more easily develop dental caries because they have difficulty removing food from their teeth and buccal spaces with their tongues during and after eating. Regular dental appointments are important, but some children may have difficulty opening their mouths wide enough for easy access. Other dental-related problems include enamel hypoplasia and missing teeth. A child with an improper bite or difficulty swallowing probably will have micrognathia (deficient lower jaw growth), a high and narrow palate with crowded teeth, and flaring out of the upper teeth. Orthodontia and jaw surgery may be needed (Osborne, 1996).
The lack of facial expression in the newborn may hinder parental attachment unless the parents understand and accept the newborn's inability to produce facial expression. Many people interpret the child's blank mask-like facies as evidence of low intelligence, mental problems, or birth injury. Strangers may not "read" children with Moebius syndrome correctly (Fitzgerald, 2006) and believe them to be disinterested, rude, or bored. Photographs of children with Moebius display the typical mask-like facies of this disorder.
Facial paralysis and incomplete lip closure, coupled with the inability to use the tongue effectively, result in speech difficulties. Bilabial sounds (B, M, and P), pronunciation of which requires the lips to meet, and other consonant sounds such as F and V, which require the lower lip to meet the upper front teeth, are especially difficult, and early speech therapy is recommended (Rosenfeld-Johnson, 1999). Children with Moebius syndrome can communicate more effectively by approximating sounds, using substitutes when certain words are not understood by others, using appropriate body language to augment their spoken language, and pressing a finger to the lip to achieve the difficult consonant sounds.
The 6th and 7th cranial nerve involvement has many ophthalmologic implications. Lack of lateral eye movement means that children with Moebius syndrome must turn their heads to see and read, a behavior that sets them apart from others. When they try to close their eyes, their eyeballs roll back so that the whites of the eyes show, another movement that can draw negative attention. They may appear to be staring inappropriately because they are not able to flick their eyes to the side the way others can to avoid a direct gaze. Children with the syndrome cannot see peripherally as easily, so they often appear to be clumsy as they trip over obstacles in their way. They may have eyelashes that turn inward, causing problems with eye irritation. Irritation, corneal dryness, and even corneal erosion can occur because of incomplete lid closure and difficulty blinking. Use of artificial tears may help, and some ophthalmologists stitch small gold weights into the upper eyelids to help effect closure. Use of sunglasses and brimmed hats is recommended when outside, because these children cannot squint to protect their eyes from strong sunlight. An alternative to sunglasses is a red-colored contact lens (CPF550) made by Corning (Garbuzinski, 2005). A history of inadequate eye protection is thought by some to be a factor in the early development of cataracts in some adults with Moebius syndrome, but research evidence for this is not available.
With their obvious facial differences, speech and eating difficulties, and unusual physical movements, children with Moebius syndrome are often teased, belittled, or shunned by other children. Their inability to participate in children's activities such as inflating balloons, blowing out candles, and blowing soap bubbles further sets them apart. Adolescence can be a particularly painful time for them because of their inability to look completely like other teenagers at a time when "fitting in" is of utmost importance. Being physically different and being unable to kiss like other adolescents make it difficult for some teens to establish intimate relationships.
Children with Moebius syndrome can have self-esteem and confidence issues and may need counseling. Having the Zuker procedure ("smile surgery") may be an appropriate choice for some children and adolescents who want to express themselves more fully by being able to smile.
Some children with Moebius syndrome have dysfunction of cranial nerves beyond the abducens and facial nerves, because any of the other ten cranial nerves can be affected in persons with Moebius syndrome. For some of these children with extensive cranial nerve dysfunction, permanent tracheostomies and gastric tubes may be necessary.
Associated anomalies and problems, including missing or deformed limbs, hearing loss, strabismus, autism, hypotonia, tongue and jaw deformities such as cleft palate, Pierre Robin syndrome, Poland's anomaly (absent pectoralis major), and delayed gross motor development, require multidisciplinary, specialized care.
Clinical Implications
Nurses who are aware of the characteristics of Moebius syndrome are in a position to assist with the diagnosis when a child is born with facial paralysis of unknown etiology. The primary caregiver and the child's parents can be referred for information to Web sites such as the ones listed in this article. Parents also may need assistance in grieving the loss of an expected perfect baby and accepting the unique characteristics of the child with Moebius syndrome. Continuous support and measures such as focusing on family characteristics displayed by the baby may help to facilitate parental attachment and acceptance.
When feeding difficulties arise in the newborn with facial paralysis, the nurse can obtain a SpecialNeeds Feeder and teach the parents how to use it. It is essential that parents establish successful feeding before discharge, or the newborn may fail to gain weight appropriately. Close monitoring of weight gain is recommended, and parents should be given parameters for expected weight gain and when to report insufficient gains. The parents should be taught to take special care during feeding to avoid aspiration, which occurs more commonly in newborns with Moebius syndrome. The nurse can encourage a mother who intended to breastfeed to pump her breasts in order to feed her baby the expressed breast milk and can arrange for use of an electric pump after discharge.
Nurses can inform parents of children with the syndrome about available resources, such as the Moebius Syndrome Foundation, founded by parents of affected children. It provides an informative Web site, produces three newsletters yearly (available on the Web site), and hosts an International Conference every other year within the United States for individuals with Moebius syndrome and their families. Many conference attendees, organizers, and speakers are confident and successful adults and teens with Moebius syndrome or other facial and physical differences who provide excellent role models for the children who attend. These individuals are sources of comfort, support, and information for the children's parents. Periodic regional meetings are further opportunities for socialization among families and adults with Moebius syndrome. Similar affiliated organizations exist in other countries.
Anticipatory guidance should be offered to the parents of newborns with Moebius syndrome regarding the numerous physical and social challenges their children will face. Parents need to be informed about problems with eating solid food, maintaining dental hygiene, and learning to speak clearly. The importance of early dental care and speech therapy should be emphasized. The nurse also can inform parents about the potential need in the future for ophthalmologic care, psychological counseling, physical therapy, and surgical treatment, such as "smile surgery." Referral to a geneticist is appropriate if the parents anticipate having more children.
 | Figure. No caption available. |
Parents need to be prepared for how others may react to their child. It is important for parents to educate individuals who will interact regularly with the child (e.g., extended family members, neighbors, caregivers, teachers, and classmates) about the child's level of intelligence despite the lack of facial expression. Nurses can advise parents that strong support from family and friends is needed to help children with the syndrome become confident, successful adults.
Summary
Although Moebius syndrome is rare, children who are born with it deserve to have appropriate care, including early recognition, definitive diagnosis, and access to supportive and specialized services. Nurses who work in perinatal, midwifery, and neonatal specialties are in an ideal position to recognize the syndrome in newborns and assist parents to obtain the care needed for their babies. Pediatric nurses can recognize the syndrome in previously undiagnosed children and bring it to the attention of the child's primary caregiver. Nurses in all settings who care for children with diagnosed Moebius syndrome can be aware of the common problems that result and can help the children and parents locate the appropriate resources to learn about Moebius syndrome and the healthcare options available.
Acknowledgments
The authors acknowledge the help of Roland Bienvenu, who has Moebius syndrome (and is the brother of the first author), and Vicki McCarrell, President of the Moebius Foundation. Growing up with a sibling with Moebius syndrome has allowed the first author to develop a deep understanding of the implications of the syndrome.
References
Bandim, J., Ventura, L., Miller, M., Almeida, H., & Costa, A. (2003). Autism and Mobius sequence: An exploratory study of children in northeastern Brazil. Arquivos de Neuro-Psiquiatria,61, 181-185. [Context Link]
Briegel, W. (2006). Neuropsychiatric findings of Mobius sequence: A review. Clinical Genetics, 70, 91-97. [Context Link]
Calder, A., Keane, J., Cole, J., Campbell, R., & Young, A. (2000). Facial expression recognition by people with Mobius syndrome. Cognitive Neuropsychology,17, 73-87. [Context Link]
Fitzgerald, L. (2006). Achieving social success. Moebius Syndrome News, 15, 13. [Context Link]
Garbuzinski, J. (2005). Raising a child with Moebius syndrome: What I've learned so far. Moebius Syndrome News,15, 6-9. [Context Link]
Goldberg, C., DeLorie, R., Zuker, R., & Manktelow, R. (2003). The effects of gracilis muscle transplantation on speech in children with Moebius syndrome. Journal of Craniofacial Surgery,14, 687-690. [Context Link]
McCarrell, V. (2003). Moebius Syndrome International meets in Paris. Moebius Syndrome News, 12, 1-2. [Context Link]
Meyerson, M. (2001). Resiliency and success in adults with Moebius syndrome. The Cleft Palate-Craniofacial Journal,38, 231-235. [Context Link]
Miller, M., Stromland, K., Ventura, L., Johansson, M., Bandim, J., & Gillberg, C. (2004). Autism with ophthalmologic malformations: The plot thickens. Ophthalmological Society,102, 107-121. [Context Link]
Moebius Syndrome: MBS. (1966-2007). OMIM Web site (Online Mendelian Inheritance in Man). Retrieved April 16, 2008, from www.ncbi.nlm.nih.gov / [Context Link]
Moebius Syndrome Foundation announces first ever research conference. (2007). Moebius Syndrome News,16, 1. [Context Link]
National Institute of Neurological Disorders and Stroke, National Institutes of Health. (2007). NINDS Mobius Syndrome Information Page. Retrieved April 15, 2008, from www.ninds.nih.gov/disorders/mobius/mobius.htm [Context Link]
Osborne, G. (1996). A message from a dentist and a Moebius dad. Retrieved April 16, 2008, from http://www.moebiussyndrome.com / [Context Link]
Ouanounou, S., Saigal, G., & Birchansky, S. (2005). Mobius syndrome. American Journal of Neuroradiology,26, 430-432. [Context Link]
Pastuszak, A., Schuler, L., Speck-Martins, C., Coelho, K-E., Cordello, S., & Vargas, F. (1998). Use of misoprostol during pregnancy and Mobius syndrome in infants. New England Journal of Medicine, 338, 1881-1885. [Context Link]
Pedraza, S., Gamez, J., Rovira, A., Zamora, A., Grive, E., Raguer, N., et al. (2000). MRI findings in Mobius syndrome: Correlation with clinical features. Neurology,55, 1058-1060. [Context Link]
Rizos, M., Negron, R., & Serman, N. (1998). Mobius syndrome with dental involvement: A case report and literature review. Cleft Palate-Craniofacial Journal, 35, 262-268. [Context Link]
Rosenfeld-Johnson, S. (1999). Improving feeding safety and speech clarity in clients with Moebius Syndrome. Retrieved April 16, 2008, from www.moebiussyndrome.com [Context Link]
Suvarna, J., Bagnawar, M., & Deshmukh, C. (2006). Moebius syndrome with total anomalous pulmonary venous connection. Indian Journal of Pediatrics, 73, 427-429. [Context Link]
Traboulsi, E. (2004). Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movement. Transactions of the American Ophthalmological Society, 102, 373-389. [Context Link]
Verzijl, H., van den Helm, B., Veldman, B., Hamel, C., Kuyt, L., Padberg, G., et al. (1999). A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q in a Dutch family. American Journal of Human Genetics,65, 752-756. [Context Link]
Zuker, R., Goldberg, C., & Manktelow, R. (2000). Facial animation in children with Mobius syndrome after segmental gracilis muscle transplant. Plastic and Reconstructive Surgery, 106, 1-8. [Context Link]