The ears are one of our five sense organs but most of us take very little care of them. And a lot of us are gradually losing our hearing owing to neglect, misuse and wilful damage. The inability to hear properly and the consequent misinterpretation of what is heard can lead to misunderstandings with friends and social isolation. It can also be dangerous, as motor horns, bells, sirens and even warnings shouted may be missed.
Some babies are born deaf as an isolated defect or part of a complex plethora of congenital defects and syndromes. Sometimes the mother contracts measles, mumps or chicken pox during the first few months of pregnancy and deafness occurs in the baby as a result.
Hearing should be checked soon after birth. Some babies can hear, but develop post-lingual (after speech develops) hearing loss. Minor hearing loss can begin by age 20, with difficulty in hearing whispers and soft speech. By the time one reaches 65, 30 per cent have significant hearing loss while 50 per cent are quite deaf by the time they cross 75. Age related gradual degenerative deafness is called presbycusis.
The ear consists of the outer ear, middle ear and inner ear. Sound waves enter through the outer ear and cause vibrations at the eardrum. Three small bones of the middle ear amplify these vibrations as they pass to the inner ear, which contains a fluid-filled snail shaped structure called cochlea. Sound waves make the tiny hairs attached to the nerve cells in the cochlea move in different directions. This transforms the sound waves into electrical signals that are transmitted to the brain.
Continuous exposure to loud sound can damage the fine hair on the nerve cells, leading to progressive loss of hearing. This can be occupational in people who work with loud machinery. It is becoming common in teenagers who use “in ear” earphones to listen to loud music prolonged periods. Even soft piano music should not be listened to for more than two hours at a stretch.
Difficulty in hearing can also occur because of the external ear canal being blocked with wax. This can also lead to severe ear ache. It can be tackled with wax dissolving eardrops. A physician can clean it out. Ear buds tend to push hard wax further inwards, blocking the canal further. Pins and other sharp objects should never be inserted into the ear as they can damage the eardrum.
The middle ear is prone to viral and bacterial infections. Fluid and pus can collect, causing temporary hearing loss. Viral infections are unavoidable but immunisation is available against H. Influenzae and pneumococcus, the two common bacteria that cause ear infections in childhood. These injections are not part of the free national immunisation schedule; they are classified as “optional” vaccines and have to be paid for.
If left untreated, middle ear infections can result in hearing loss. The infection can spread outwards damaging the eardrum or inwards causing brain fever and meningitis. It can also damage the nerves conducting sounds to the brain.
Childhood infections such as measles, mumps and chicken pox could cause deafness as a complication. This too is preventable with immunisation. Vaccinations for all these diseases should be completed by the age of two.
Hearing loss can develop because of a defect either in the conduction pathways or in the nerve cells. It can also be a side effect of medication such as chloroquine, quinine and aspirin as well as antibiotics like gentamicin and kanamycin.
A sudden blow to the head, or a poke with a sharp object can also rupture the eardrum. Sudden loud noises can have the same effect. In war zones, there are “epidemics” of deafness where large numbers of the population cannot hear. Children are particularly vulnerable.
Once hearing loss has set in it should be evaluated professionally to assess the severity, whether one or both ears are affected and if it is reversible and curable.
Small holes in the eardrum can heal spontaneously or with medication. Larger holes require surgical repair, with skin grafts. In permanent hearing loss, a hearing aid should be considered, particularly in older individuals. Hearing aids vary in price, size and usability. The individual has to be fitted with the aid that suits him best. Cochlear implant surgery is also an effective but expensive solution.
Tips to preserve hearing:
• If occupational exposure to loud noise is inevitable, use ear mufflers.
• Turn TV and music volumes down.
• Do not place foreign objects in the ear.
• Children should be immunised against measles, mumps, German measles, chicken pox, H. influenza and pneumococcus.
• Women should complete their immunisation schedule before marriage.
Ménière’s disease is a disorder of the inner ear that can affect hearing and balance to a varying degree. It is characterized by episodes of vertigo — a sensation of a spinning motion — along with fluctuating hearing loss, ringing in the ear (tinnitus), and sometimes a feeling of fullness or pressure in your ear. In most cases, Meniere’s disease affects only one ear. CLICK TO SEE THE PICTURE
People in their 40s and 50s are more likely than people in other age groups to develop Meniere’s disease, but it can occur in anyone, even children. click to see the picture
Although Meniere’s disease is considered a chronic condition, there are various treatment strategies that can help relieve symptoms and minimize the disease’s long-term impact on your life.
It is named after the French physician Prosper Ménière, who, in an article published in 1861, first reported that vertigo was caused by inner ear disorders. The condition affects people differently; it can range in intensity from being a mild annoyance to a chronic, lifelong disability
The symptoms of Ménière’s are variable; not all sufferers experience the same symptoms. However, so-called “classic Ménière’s” is considered to have the following four symptoms: CLICK TO SEE THE POICTURE
*Periodic episodes of rotary vertigo or dizziness.
*Fluctuating, progressive, unilateral (in one ear) or bilateral (in both ears) hearing loss, usually in lower frequencies.
*Unilateral or bilateral tinnitus.
*A sensation of fullness or pressure in one or both ears.
Ménière’s often begins with one symptom, and gradually progresses. However, not all symptoms must be present for a doctor to make a diagnosis of the disease. Several symptoms at once is more conclusive than different symptoms at separate times.
Attacks of rotational vertigo can be severe, incapacitating, and unpredictable and can last anywhere from minutes to hours, but generally no longer than 24 hours. For some sufferers however, prolonged attacks can occur, lasting from several days to several weeks, often causing the sufferer to be severely incapacitated. This combines with an increase in volume of tinnitus and temporary, albeit significant, hearing loss. Hearing may improve after an attack, but often becomes progressively worse. Nausea, vomiting, and sweating sometimes accompany vertigo, but are symptoms of vertigo, and not of Ménière’s.
Some sufferers experience what are informally known as “drop attacks”—a sudden, severe attack of dizziness or vertigo that causes the sufferer, if not seated, to fall without warning. Drop attacks are likely to occur later in the disease, but can occur at any time. Patients may also experience the feeling of being pushed or pulled. Some patients may find it impossible to get up for some time, until the attack passes or medication takes effect.
In addition to hearing loss, sounds can appear tinny or distorted, and patients can experience unusual sensitivity to noises.
Some sufferers also experience nystagmus, or uncontrollable rhythmical and jerky eye movements, usually in the horizontal plane, reflecting the essential role of non-visual balance in coordinating eye movements
There is an increased prevalence of migraine in patients with Ménière’s disease. As well, migraine leads to a greater susceptibility of developing Ménière’s disease. The distinction between migraine-associated vertigo and Ménière’s is that migraine-associated vertigo may last for more than 24 hours
Ménière’s disease is idiopathic, but it is believed to be linked to endolymphatic hydrops, an excess of fluid in the inner ear.
he inner ear is a cluster of connected passages and cavities called a labyrinth. The outside of the inner ear is made of bone (bony labyrinth). Inside is a soft structure of membrane (membranous labyrinth) that’s a slightly smaller, similarly shaped version of the bony labyrinth. The membranous labyrinth contains a fluid (endolymph) and is lined with hair-like sensors that respond to movement of the fluid. …
In order for all of the sensors in the inner ear to function properly, the fluid needs to retain a certain volume, pressure and chemical composition. Factors that alter the properties of inner ear fluid may help cause Meniere’s disease. Scientists have proposed a number of potential causes or triggers, including:
*Improper fluid drainage, perhaps because of a blockage or anatomic abnormality
Because no single cause has been identified, it’s likely that Meniere’s disease is caused by a combination of factors.
The unpredictable episodes of vertigo are usually the most debilitating problem of Meniere’s disease. The episodes often force a person to lie down for several hours and lose time from work or leisure activities, and they can cause emotional stress.
Vertigo can also increase your risk of:
*Accidents while driving a car or operating heavy machinery
*Depression or anxiety in dealing with the disease
*Permanent hearing loss
Doctors establish a diagnosis with complaints and medical history. However, a detailed otolaryngological examination, audiometry and head MRI scan should be performed to exclude a vestibular schwannoma or superior canal dehiscence which would cause similar symptoms. There is no definitive test for Ménière’s, it is only diagnosed when all other causes have been ruled out. If any cause had been discovered, this would eliminate Ménière’s disease, as by its very definition, as an exclusively idiopathic disease, it has no known causes.
Because Ménière’s cannot be cured, treatments focus more on addressing symptoms. In extreme cases, it is necessary to destroy vestibular hair cells with the antibiotic streptomycin or to remove the affected labyrinth surgically in order to relieve severe vertigo. Patients are sometimes treated by the insertion of a shunt that diverts excess endolymph directly to the cerebrospinal fluid, a procedure that is not always effective. Typical remedies to improve symptoms may include:
*Antihistamines considered antiemetics such as meclozine and dimenhydrinate
*Antiemetic drugs such as trimethobenzamide.
*Antivertigo/antianxiety drugs such as betahistine and diazepam.
*Herbal remedies such as ginger root
Sufferers tend to have high stress and anxiety due to the unpredictable nature of the disease. Healthy ways to combat this stress can include aromatherapy, yoga, T’ai chi., and meditation.
If symptoms do not improve with typical treatment, more permanent surgery is considered. Unfortunately, because the inner ear deals with both balance and hearing, few surgeries guarantee no hearing loss.
Nondestructive surgeries include those which do not actively remove any functionality, but rather aim to improve the way the ear works.
Intratympanic steroid treatments involve injecting steroids (commonly dexamethasone) into the middle ear in order to reduce inflammation and alter inner ear circulation.
Surgery to decompress the endolymphatic sac has shown to be effective for temporary relief from symptoms. Most patients see a decrease in vertigo occurrence, while their hearing may be unaffected. This treatment, however, does not address the long-term course of vertigo in Ménière’s disease. Danish studies even link this surgery to a very strong placebo effect, and that very little difference occurred in a 9-year followup, but could not deny the efficacy of the treatment
Destructive surgeries are irreversible, and involve removing entire functionality of most, if not all, of the affected ear.
The inner ear itself can be surgically removed via labyrinthectomy. Hearing is always completely lost in the affected ear with this operation. Alternatively, a chemical labyrinthectomy, in which a drug (such as gentamicin) that “kills” the vestibular apparatus is injected into the middle ear can accomplish the same results while retaining hearing.
Alternatively, surgeons can cut the nerve to the balance portion of the inner ear in a vestibular neurectomy. Hearing is often mostly preserved, however the surgery involves cutting open into the lining of the brain, and a hospital stay of a few days for monitoring would be required.
Vertigo (and the associated nausea and vomiting) typically accompany the recovery from destructive surgeries as the brain learns to compensate
Physiotherapists also have a role in the management of Meniere’s disease. In vestibular rehabilitation, physiotherapists use interventions aimed at stabilizing gaze, reducing dizziness and increasing postural balance within the context of activities of daily living. After a vestibular assessment is conducted, the physiotherapist tailors the treatment plan to the needs of that specific patient.
The central nervous system (CNS) can be re-trained because of its plasticity, or alterability, as well as its repetitious pathways. During vestibular rehabilitation, physiotherapists take advantage of this characteristic of the CNS by provoking symptoms of dizziness or unsteadiness with head movements while allowing the visual, somatosensory and vestibular systems to interpret the information. This leads to a continuous decrease in symptoms.
Although a significant amount of research has been done regarding vestibular rehabilitation in other disorders, substantially less has been done specifically on Meniere’s disease. However, vestibular physiotherapy is currently accepted as part of best practices in the management of this condition
Ménière’s disease usually starts confined to one ear, but it often extends to involve both ears over time. The number of patients who end up with bilaterial Ménière’s is debated, with ranges spanning from 17% to 75%.
Some Ménière’s disease sufferers, in severe cases, may end up losing their jobs, and will be on disability until the disease burns out. However, a majority (60-80%) of sufferers will not need permanent disability and will recover with or without medical help.
Hearing loss usually fluctuates in the beginning stages and becomes more permanent in later stages, although hearing aids and cochlear implants can help remedy damage. Tinnitus can be unpredictable, but patients usually get used to it over time.
Ménière’s disease, being unpredictable, has a variable prognosis. Attacks could come more frequently and more severely, less frequently and less severely, and anywhere in between. However, Ménière’s is known to “burn out” when vestibular function has been destroyed to a stage where vertigo attacks cease.
Studies done on both right and left ear sufferers show that patients with their right ear affected tend to do significantly worse in cognitive performance. General intelligence was not hindered, and it was concluded that declining performance was related to how long the patient had been suffering from the disease
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose
The labyrinth is a group of interconnected canals chambers located in the inner ear. It is made up of the cochlea and the semicircular canals. The cochlea is involved in transmitting sounds to the brain. The semicircular canals send information to the brain about the head’s position and how it is moving. The brain uses this information to maintain balance. Labyrinthitis is caused by the inflammation of the labyrinth. Its most frequent symptom is vertigo ( dizziness ), because the information that the semicircular canals send to the brain about the position of the head is affected. click & see the pictures
The labyrinth is a system of narrow fluid-filled channels in the inner ear, which is involved in the detection of body movement, helping to control balance and posture.
In addition to balance control problems, a labyrinthitis patient may encounter hearing loss and tinnitus. Labyrinthitis is usually caused by a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy or as a reaction to a particular medication. Both bacterial and viral labyrinthitis can cause permanent hearing loss, although this is rare.
Labyrinthitis is rare and is more likely to occur after middle ear infections, meningitis , or upper respiratory infection. It may also occur after trauma, because of a tumor, or after the ingesting of toxic substances. It is thought to be more common in females than in males.
•These symptoms often are provoked or made worse by moving your head, sitting up, rolling over, or looking upward.
•Symptoms may last for days or even weeks depending on the cause and severity.
*Symptoms may come back, so be careful about driving, working at heights, or operating heavy machinery for at least 1 week from the time the symptoms end.
*Rarely, the condition may last all your life, as with Meniere’s disease. This condition usually involves tinnitus and hearing loss with the vertigo. In rare cases it can be debilitating.
Many times, you cannot determine the cause of labyrinthitis. Often, the condition follows a viral illness such as a cold or the flu. Viruses, or your body’s immune response to them, may cause inflammation that results in labyrinthitis.
Other potential causes are these:
•Trauma or injury to your head or ear
•Bacterial infections: If found in nearby structures such as your middle ear, such infections may cause the following:
*Fluid to collect in the labyrinth (serous labyrinthitis)
*Fluid to directly invade the labyrinth, causing pus-producing (suppurative) labyrinthitis
•A benign tumor of the middle ear
•Certain medications taken in high doses
*Some IV antibiotics
*Phenytoin (Dilantin) at toxic levels
•Benign paroxysmal positional vertigo: With this condition, small stones, or calcified particles, break off within the vestibule and bounce around. The particles trigger nerve impulses that the brain interprets as movement.
•More serious causes of vertigo can mimic labyrinthitis, but these occur rarely.
*Tumors at the base of the brain
*Strokes or insufficient blood supply to the brainstem or the nerves surrounding the labyrinth
Diagnosis of labyrinthitis is based on a combination of the individual’s symptoms and history, especially a history of a recent upper respiratory infection. The doctor will test the child’s hearing and order a laboratory culture to identify the organism if the patient has a discharge.
If there is no history of a recent infection, the doctor will order tests such as a commuted topography (CT) scan or a magnetic resonance imaging (MRI) scan to help rule out other possible causes of vertigo, such as tumors. If it is believed a bacterium is causing the labyrinthitis, blood tests may be done, or any fluid draining from the ear may be analyzed to help determine what type of bacteria is present.
Labyrinthitis, or inner ear infection, causes the labyrinth area of the ear to become inflamed. (Illustration by GGS Information Services.) Recovery:
Recovery from acute labyrinthine inflammation generally takes from one to six weeks; however, it is not uncommon for residual symptoms (dysequilibrium and/or dizziness) to last for many months or even years if permanent damage occurs.
Recovery from a permanently damaged inner ear typically follows three phases:
1.An acute period, which may include severe vertigo and vomiting
2.approximately two weeks of sub-acute symptoms and rapid recovery
3.finally a period of chronic compensation[clarification needed] which may last for months or years.
Labyrinthitis and anxiety:
Chronic anxiety is a common side effect of labyrinthitis which can produce tremors, heart palpitations, panic attacks, derealization and depression. Often a panic attack is one of the first symptoms to occur as labyrinthitis begins. While dizziness can occur from extreme anxiety, labyrinthitis itself can precipitate a panic disorder. Three models have been proposed to explain the relationship between vestibular dysfunction and panic disorder:
*Psychosomatic model: vestibular dysfunction which occurs as a result of anxiety.
*Somatopsychic model: panic disorder triggered by misinterpreted internal stimuli (e.g., stimuli from vestibular dysfunction), that are interpreted as signifying imminent physical danger. Heightened sensitivity to vestibular sensations leads to increased anxiety and, through conditioning, drives the development of panic disorder.
*Network alarm theory: panic which involves noradrenergic, serotonergic, and other connected neuronal systems. According to this theory, panic can be triggered by stimuli that set off a false alarm via afferents to the locus ceruleus, which then triggers the neuronal network. This network is thought to mediate anxiety and includes limbic, midbrain and prefrontal areas. Vestibular dysfunction in the setting of increased locus ceruleus sensitivity may be a potential trigger. Treatment:
Vestibular rehabilitation therapy (VRT) is a highly effective way to substantially reduce or eliminate residual dizziness from labyrinthitis. VRT works by causing the brain to use already existing neural mechanisms for adaptation, plasticity, and compensation.
Rehabilitation strategies most commonly used are: *Gaze stability exercises – moving the head from side to side while fixated on a stationary object (aimed to restore the Vestibulo-ocular reflex) An advanced progression of this exercise would be walking in a straight line while looking side to side by turning the head.
*Habituation exercises – movements designed to provoke symptoms and subsequently reduce the negative vestibular response upon repetition. Examples of these include Brandt-Daroff exercises.
*Functional retraining – including postural control, relaxation, and balance training.
These exercises function by challenging the vestibular system. Progression occurs by increasing the amplitude of the head or focal point movements, increasing the speed of movement, and combining movements such as walking and head turning.
One study found that patients who believed their illness was out of their control showed the slowest progression to full recovery, long after the initial vestibular injury had healed. The study revealed that the patient who compensated well was one who, at the psychological level, was not afraid of the symptoms and had some positive control over them. Notably, a reduction in negative beliefs over time was greater in those patients treated with rehabilitation than in those untreated. “Of utmost importance, baseline beliefs were the only significant predictor of change in handicap at 6 months followup.”
Prochlorperazine is commonly prescribed to help alleviate the symptoms of vertigo and nausea.
Because anxiety interferes with the balance compensation process, it is important to treat an anxiety disorder and/or depression as soon as possible to allow the brain to compensate for any vestibular damage. Acute anxiety can be treated in the short term with benzodiazepines such as diazepam (Valium); however, long-term use is not recommended because of the addictive nature of benzodiazepines and the interference they may cause with vestibular compensation and adaptive plasticity. Benzodiazepines and any other form of mind or mood altering addictive drug should not be used on patients with addictive history.
Most people who have labyrinthitis recover completely, although it often takes five to six weeks for the vertigo to disappear entirely and the individual’s hearing to return to normal. In a few cases, the hearing loss may be permanent. Permanent hearing loss is more common in cases of labyrinthitis that are caused by bacteria. For some individuals, episodes of dizziness may still occur months after the main episode is over.
The most effective preventive strategy includes prompt treatment of middle ear infections, as well as monitoring of patients with mumps, measles, influenza, or colds for signs of dizziness or hearing problems.
Labyrinthitis generally resolves by itself; however, in some cases permanent hearing loss can result. Labyrinthitis may cause repeated episodes of vertigo even after the main symptoms have gone away. If the episodes occur when the head is moved suddenly, this can make it difficult for a child to engage in some physical activities or sports .
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose Resources:
Kabuki syndrome is a rare disorder characterized by unusual facial features, skeletal abnormalities, and intellectual impairment. Abnormalities in different organ systems can also be present, but vary from individual to individual. There is no cure for Kabuki syndrome, and treatment centers on the specific abnormalities, as well as on strategies to improve the overall functioning and quality of life of the affected person.Kabuki syndrome appears to be found equally in males and females.
Scientific research conducted over the past two decades suggests that Kabuki syndrome may be associated with a change in the genetic material. However, it is still not known precisely what this genetic change may be and how this change in the genetic material alters growth and development in the womb to cause Kabuki syndrome.
In Japan, it has been estimated that about one in 32,000 babies is born with Kabuki syndrome (which could mean about 50 cases a year in the UK). Although originally reported in Japan, cases have now been described around the world.
It was discovered and described in 1981 by two Japanese groups, led by the scientists Niikawa and Kuroki (hence the name). It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.
People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.
Infants usually have normal birth weight, but most will not grow as quickly as expected. Delay in speech and language development is very common. Many infants also have problems feeding.
Kabuki syndrome is very complex and there are many other manifestations.
The cause is unknown – a genetic abnormality is suspected but has not yet been identified.It’s likely that if a gene is involved it’s a rare and random mutation that occurs sporadically.
Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome. In August 2010, a study found that two thirds of the cases have a loss-of-function mutation in the MLL2 gene, which is coding for a histone methyltransferase; it can participate in epigenetic programming, and is thought to contribute to developmental processes.
The diagnosis of Kabuki syndrome relies on physical exam by a physician familiar with the condition and by radiographic evaluation, such as the use of x rays or ultrasound to define abnormal or missing structures that are consistent with the criteria for the condition (as described above). A person can be diagnosed with Kabuki syndrome if they possess characteristics consistent with the five different groups of cardinal symptoms: typical face, skin-surface abnormalities, skeletal abnormalities, mild to moderate mental retardation, and short stature.
Although a diagnosis may be made as a newborn, most often the features do not become fully evident until early childhood. There is no laboratory blood or genetic test that can be used to identify people with Kabuki syndrome.
There is no cure for Kabuki syndrome. Treatment of the syndrome is variable and centers on correcting the different manifestations of the condition and on strategies to improve the overall functioning and quality of life of the affected individual.
For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening, but often physicians will prefer to attempt a repair once the child has grown older and the heart is more mature. For children who experience seizures, lifelong treatment with anti-seizure medications is often necessary.
Children with Kabuki syndrome often have difficulties feeding, either because of mouth abnormalities or because of poor digestion. In some cases, a tube that enters into the stomach is surgically placed in the abdomen, and specially designed nutritional liquids are administered through the tube directly into the stomach.
People with Kabuki syndrome are at higher risk for a variety of infections, most often involving the ears and the lungs. In cases such as these, antibiotics are given to treat the infection, and occasionally brief hospital stays are necessary. Most children recover from these infections with proper treatment.
Nearly half of people affected by Kabuki syndrome have some degree of hearing loss. In these individuals, formal hearing testing is recommended to determine if they might benefit from a hearing-aid. A hearing aid is a small mechanical device that sits behind the ear and amplifies sound into the ear of the affected individual. Occasionally, hearing loss in individuals with Kabuki syndrome is severe, approaching total hearing loss. In these cases, early and formal education using American Sign Language as well as involvement with the hearing-impaired community, schools, and enrichment programs is appropriate.
Children with Kabuki syndrome should be seen regularly by a team of health care professionals, including a primary care provider, medical geneticist familiar with the condition, gastroenterologist, and neurologist. After growth development is advanced enough (usually late adolescence or early adulthood), consultation with a reconstructive surgeon may be of use to repair physical abnormalities that are particularly debilitating.
During early development and progressing into young adulthood, children with Kabuki syndrome should be educated and trained in behavioral and mechanical methods to adapt to any disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful is assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with disabilities often prove useful to the affected individuals and their families, and specially equipped enrichment programs should be sought. Further, because many children with Kabuki syndrome have poor speech development, a consultation and regular session with a speech therapist is appropriate.
The abilities of children with Kabuki syndrome vary greatly. Most children with the condition have a mild to moderate intellectual impairment. Some children will be able to follow a regular education curriculum, while others will require adaptations or modifications to their schoolwork. Many older children may learn to read at a functional level.
The prognosis of children with Kabuki syndrome depends on the severity of the symptoms and the extent to which the appropriate treatments are available. Most of the medical issues regarding heart, kidney or intestinal abnormalities arise early in the child’s life and are improved with medical treatment. Since Kabuki syndrome was discovered relatively recently, very little is known regarding the average life span of individuals affected with the condition, however, present data on Kabuki syndrome does not point to a shortened life span.
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose
Definition: Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.It is a highly complex combination of malformations which leaves babies with an underdeveloped face.
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.
Goldenhar syndrome was first described by Dr. Maurice Goldenhar in 1952.
It affects between 1/3500 to 1/26000 live births in the UK
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
The main features of the condition affect the ear, which may not have developed at all. This combines with underdevelopment of the jaw and cheek on the same side of the face. When these are the only problems it is normally referred to as hemi-facial microsomia and sometimes the condition stops there. But when associated with other abnormalities, particularly affecting the vertebrae in the neck it is referred to as Goldenhar Syndrome, or ‘oculoauricular dysplasia’. Dental problems are common due to the difference between both sides of the face and the jaw bones.
Goldenhar children very occasionally have been known to have heart and kidney abnormalities.
Most individuals with the syndrome are of normal intelligence although learning difficulties can occur in about 13% of cases. However there are usually language problems as a result of deafness and there may be speech and swallowing problems.
Many babies with Goldenhar Syndrome have poor weight gain in the first year or two of life as a result of their dental abnormalities.
The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.
An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant
There is not a genetic test that can diagnose Goldenhar syndrome. The diagnosis is made when an individual has the common symptoms associated with the condition. The diagnosis is made by a physician.
Once a child is diagnosed with Goldenhar syndrome, additional tests should be performed. A hearing evaluation is necessary to determine if there is hearing loss. If hearing loss is evident, the child should be referred to a hearing specialist. Speech therapy may also be helpful. X rays of the spine are recommended to determine if there are vertebral problems, and the severity. Individuals with Goldenhar syndrome should also be regularly evaluated for scoliosis. Renal ultrasounds and ultrasounds of the heart may also be recommended, due to the increased risk for birth defects in these areas. A doctor would make this recommendation. Finally, individuals with Goldenhar syndrome should be evaluated by an eye doctor (ophthalmologist).
Surgery may be required to correct the birth defects seen in Goldenhar syndrome. Surgery to correct the facial birth defects can improve appearance and function.
It is necessary to help the child to develop e.g. jaw distraction/bone grafts, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery. Hearing aids placed in one or both ears.
Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
The prognosis for individuals with Goldenhar syndrome is very good. These individuals typically have a normal life span and normal intelligence.
There has been progress in identifying the condition through pre-natal scanning and it is thought the risk of having another affected child is small.
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.