Newborn babies will generally cry. Baby cries are not without meaning, Parents. Babies cry because they adapt to the new environment outside the womb. A baby’s cry after birth is also a good sign that their lungs are functioning normally. However, what if a baby is diagnosed with a rare condition called Moebius syndrome ?
According to the National Institute of Health , Moebius syndrome is a rare neurological disorder that affects the muscles that control facial expressions and eye movements back and forth. Signs and symptoms of this syndrome appear from birth. People with this condition cannot show facial expressions like most people. This syndrome is also known as mask face syndrome. Because this syndrome causes the face to become stiff, expressionless. This condition can also affect the nerves responsible for speaking, chewing and swallowing.
Affected individuals must move their heads from side to side to read or follow moving objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). In addition, the eyelids may not close completely when blinking or sleeping, which can cause dry or irritated eyes.
Other features of Moebius syndrome may include bone abnormalities in the hands and feet, muscle weakness ( hypotonia ), and hearing loss. Affected children often have delays in the development of motor skills (such as crawling and walking), although most eventually acquire these skills.
Some studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorder , a group of conditions characterized by impaired communication and social interaction. However, recent research has questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorder can be difficult to diagnose in these individuals.
Moebius syndrome may also be associated with an increased risk of intellectual disability; however, most affected individuals have normal intelligence
Reason
The National Organization for Rare Disorder (NORD) states that the cause of Moebius syndrome is currently unknown. Most cases occur randomly without a family history of the same disorder.
In some reported cases, but these are very rare, genetic factors are thought to play a role. Most likely, Moebius syndrome is multifactorial, meaning that both genetic and environmental factors play a role.
Risk Factors
Scientists have not identified any specific factors that increase a person’s chances of developing Moebius syndrome. It occurs in girls and boys of all ethnicities.
Several theories have been put forward by experts to explain the cause of Moebius syndrome. One theory put forward is that this syndrome occurs due to disruption of blood flow to the developing fetus in the womb during pregnancy.
Recent studies have shown that lack of blood affects certain areas of the lower brain stem that contain the cranial nerve nuclei. This lack of blood flow can be caused by environmental, mechanical or genetic factors. However, the exact cause still needs to be proven further.
Another factor that is thought to be a trigger is certain medications taken during pregnancy. Parents, pregnant women should avoid taking any type of medication without first consulting a doctor. Especially during the first trimester.
Signs and symptoms
Symptoms of Moebius syndrome are usually recognized when the child is just born. Here are some characteristics that can be recognized as symptoms of Moebius syndrome:
- People with Moebius syndrome cannot move their faces, cannot smile, frown or blink. They have no facial expressions which makes it difficult to know if they are happy, sad, angry or laughing.
- Usually affects both sides of the face, but not always.
- The face may be affected asymmetrically.
- Some people cannot move their face at all and others may have weak movements.
- Sometimes this is followed by optic nerve abnormalities that cause the eyes to become crossed
- Small chin (micrognathia) and small mouth (microstomia); many people with Moebius syndrome cannot close their mouths completely.
- The roof of the mouth may have an abnormal opening (cleft palate) or be high and curved.
- Dental problems associated with a small jaw, misaligned teeth, or the effects of having a constantly open mouth (increased risk of cavities)
- This can be followed by other nerve disorders which cause sufferers to be unable to hear, cough, speak clearly and swallow.
- Short or unusually shaped tongue
- Underdeveloped chest muscles (which may also include breast tissue)
- Abnormal curvature of the spine (scoliosis)
- Respiratory disorders
- Sleep problems
- Skeletal abnormalities of the hands, feet, and limbs.
Diagnosis
Health care providers diagnose Moebius syndrome based on clinical criteria. That means there is no specific test for the disorder. Diagnosis is based on a health care provider observing certain symptoms during an exam.
Quoted from the Cleveland Clinic page , to diagnose Moebius syndrome, a child must have:
- Facial weakness or paralysis that is present at birth but does not worsen over time.
- Inability to move one or both eyes outward or side to side (but can move eyes up and down).
A health care provider may perform tests to rule out other causes of facial weakness or paralysis.
Frequency of Occurrence
Moebius syndrome is a very rare disorder. It is estimated to occur in 1 in 50,000 to 1 in 500,000 births.
Prevention
There is no way to prevent Moebius syndrome. Scientists are still working to understand what causes it and possible risk factors.
Care and Treatment for Babies
Each person with Moebius syndrome will have different needs. While there is no definitive treatment or cure for the condition, a team of specialists can help coordinate care for people with Moebius syndrome.
Because the diagnosis can usually be made at birth or soon after, early interventions, such as physical, occupational, and speech therapy, can be started early. A comprehensive eye exam and ongoing support from an ophthalmologist can help address vision problems. If hearing loss is present, an audiologist can help.
Other specialists who may be involved in the care of a child with Moebius syndrome include:
- Pediatricians and pediatric surgeons
- Ear, nose and throat (ENT) specialist
- Respiratory specialist
- Neurologist
- Maxillofacial surgeon
- Plastic surgeon
- Psychiatrist
- Orthopedist.
“Smile” surgery to help babies with Moebius syndrome
One relatively new surgical innovation is known as the “smile operation.” This procedure involves taking a nerve from the thigh and grafting it to the face, specifically to the muscle that helps a person chew ( the masseter ).
This surgery has improved facial mobility and speech for some patients with Moebius syndrome, including successfully restoring the ability to make certain facial expressions, such as smiling. This surgery also helps children achieve:
- Facial movements, including smiling and eating
- Speaking ability
- Pride
- Symmetrical smile
Other treatments may involve:
- Contact lenses to protect and correct the eyes.
- Eye drops for lubrication.
- The Ponseti method for clubfoot, which involves a series of casts.
- Splints, braces and prostheses (artificial body parts) for limbs.
Surgical procedures include:
- Correct strabismus
- Correct tooth gaps or other dental problems
- Make the eyelids close
- The transfer of nerves or muscle tissue from one area of the body to another (known as a nerve or muscle graft) to improve movement.
- Opening and supporting the airway (called a tracheotomy) to improve breathing.
- Separation of webbed fingers
Physical and speech therapy
Moebius syndrome can affect the cranial nerves responsible for controlling the muscles in the tongue, jaw, larynx and throat, as well as the muscles that produce speech. As a result, children with Moebius syndrome may struggle with proper articulation and resonance. Severe cases of Moebius syndrome may also require a special bottle or feeding tube to help with proper nutrition. However, feeding difficulties tend to improve with age as children develop proper motor control.
Physical and speech therapy can help children gain greater control in speaking and eating, as well as improve overall coordination and motor skills.
Difficulty eating can also cause food to build up behind the teeth, leading to decay. Frequent flossing and brushing can help prevent buildup and damage to the teeth and gums. For children with cleft palates, orthodontics may be needed to align the teeth and jaw.
Living with Moebius syndrome
Although the condition is not believed to be genetic, if Moebius syndrome does run in a family, genetic counseling may be helpful.
With the developmental or motor delays they experience, children with Moebius syndrome are usually given special therapy to “catch up” with their developmental delays.
Although they generally have normal intellectual functioning, they may still have social difficulties with peers or at school because of the uniqueness of their condition. Counseling and supportive educational resources may be helpful for families.
If children are struggling academically, for example, because of physical limitations such as poor vision, special education programs, tutoring, or homeschooling may be considered.
Because Moebius syndrome is so rare, some parents may choose to send a letter or brief explanation to their child’s teacher before they start school.
Providing support to babies with Moebius syndrome and their parents
Of course, it is not easy for children with similar syndromes to get through it, Parents . Parents who care for them must also go through difficult times.
However, humans cannot choose what condition they are born in. Good or bad, less or more, humans can only be grateful and accept. Acceptance that makes the heart more spacious that may open the way to find new hope.
A Father’s Story of Having a Baby with Moebius Syndrome
photo: instagram/ @aku.superhiro
This rare condition reminds us of a baby named Hiro who was born on June 27, 2020. This tiny baby was born without crying, not even having any expressions.
Hiro couldn’t cry. More precisely, Hiro couldn’t open his mouth. In fact, maybe only as big as a mineral water straw, wrote Andreas, his father.
This condition forced Hiro to be fitted with a feeding tube and oxygen tube. Later, one of the doctors treating Hiro stated that he had a rare syndrome called Moebius Syndrome.
Moebius syndrome causes Hiro’s face to be unable to express itself as it should.
That’s why this syndrome is also known as mask face syndrome. Because this syndrome causes the face to become stiff, without expression.
Baby Hiro’s condition is even more difficult. He has another neurological disorder that makes it difficult for him to swallow. This is as Andreas revealed in his tweet.
Confessions of a father who has a baby with Moebius Syndrome.
Difficulty swallowing not only makes Hiro unable to eat, but also makes him easily choke on his own saliva.
In addition, according to Andreas, Hiro also does not have a good cough reflex.
For Hiro, every eating session is an activity that can cause death. Currently he eats 8 times a day, so, that often the risk of choking, suffocation, even death, concluded Andreas, who also works as a psychiatrist.
However, Hiro’s parents always struggle and continue to love their child.
It was a really tough struggle that Hiro had to go through, huh? Parents…
Hopefully Hiro’s story of struggle inspires many people. Support and love all ‘special’ children so that they grow up full of love and can maximize their best potential. Because, all children are special.
That is the story of Hiro, a baby with Moebius syndrome who is full of inspiration. May baby Hiro be given a long life.
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Artikel telah diupdate oleh: Nikita Ferdiaz
