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Ailmemts & Remedies Pediatric

Kabuki Syndrome

Definition:

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.

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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.

Symptoms:
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.

Cause:
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.

Diagnosis
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.

Treatment ;
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.

Prognosis:
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

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/kabuki2.shtml
http://www.healthline.com/galecontent/kabuki-syndrome-1
http://en.wikipedia.org/wiki/Kabuki_syndrome

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News on Health & Science

Vitamin D Can Radically Reduce Damage from Radioactivity from Fukushima

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As understanding of Vitamin D increases, it is becoming apparent that its most active form, Vitamin D3 (calcitriol), may offer protection against a variety of radiation-induced damages. Vitamin D’s protective action is carried by a wide variety of mechanisms, including cell cycle regulation and proliferation, cellular differentiation and communication, and programmed cell death (apoptosis).

A paper on the subject argued that vitamin D should be considered among the prime nonpharmacological agents that offer protection against low radiation damage and radiation-induced cancer — or even the primary agent.

According to the paper in the International Journal of Low Radiation:“… [O]ur understanding of how vitamin D mediates biological responses has entered a new era … In view of the evidence that has been presented here, it would appear that vitamin D by its preventive/ameliorating actions should be given serious consideration as a protective agent against sublethal radiation injury, and in particular that induced by low radiation”.

Source: International Journal of Low Radiation 2008; 5(4)

Posted By Dr. Mercola | June 03 2011

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Ailmemts & Remedies Pediatric

Juvenile Idiopathic Arthritis(JIA)

Definition:
Arthritis is an inflammation of the joints, with pain or stiffness. It may be acute or chronic. Acute arthritis is also called septic arthritis and may affect one or more joints.

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Juvenile Idiopathic Arthritis (JIA) (once called Juvenile Rheumatoid Arthritis or JRA) is a type of arthritis that affects children who are under 16 years of age. This is an autoimmune disease that causes joints to swell and become stiff, sometimes hindering a child’s mobility. It can affect any joint, and in some cases it can affect internal organs and eyes as well. Symptoms can come and go, flare-up on occassion, while others have symptoms that never go away.

There are three types of JIA, which are diagnosed according to symptoms and blood tests:-
•Oligoarticular JIA – the most common kind of childhood arthritis, which often starts at the age of two or three. The problem is limited to four joints or fewer, which become swollen and painful. Sometimes the eyes are affected, too. It is also known as pauciarticular arthritis.

•Polyarticular JIA – affects five or more joints. It can start at any age, from a few months onwards, and usually spreads quite quickly from one joint to another. Children often feel generally unwell, sometimes with a fever.

•Systemic onset JIA – affects the whole body, and causes fever and rashes as well as inflamed and painful joints. It usually starts in children under five but can affect children of any age. It used to be called Still’s disease.

About one in 1,000 children has arthritis. In many cases, the inflammation stops in late childhood, but about one-third of children affected have problems that last into their adult life.

Juvenile idiopathic arthritis affects somewhere between 8 and 150 of every 100,000 children, depending on the analysis. Of these children, 50 percent have pauciarticular JIA, 40 percent have polyarticular JIA and 10 percent have systemic JIA.

Symptoms:
Symptoms depend on the type of arthritis and joints affected . They could include:
*Pain
*Fever
*Joint Pain
*Knee Pain
*Joint Swelling
*Ankle Pain
*Hip Pain
*Swollen Lymph Nodes
*Elbow Pain
*Wrist Pain
*Limited Range of Motion
*Morning Stiffness
*Migratory Joint Pain
*Hip Stiff
*Back Pain
*Rash
*Chronic pain
*Shoulder Pain
*Foot Pain
*Dry Mouth
*Joint Stiffness
*Eye Pain
*Arm Pain
*Inflamed Joint
*Double-Vision
*Visual Disturbance
*Joint Tenderness
*Enlarged Spleen
*Eye Redness
*Visual Impairment
*Joint Erythema
*Joints Warm
*Blurred vision
*Knee Stiff
*Feels Hot to Touch
*Light Hurts Eyes
*Uneven Limb Lengths

Causes:
So far the actual cause of JIA remains a mystery. However, the disorder is autoimmune   – meaning that the body’s own immune system starts to attack and destroy cells and tissues (particularly in the joints) for no apparent reason. It is believed that the immune system gets provoked by changes in the environment or perhaps there is an error in the gene. Experimental studies have shown that certain viruses that have mutated may be able to trigger JIA. JIA appears to be more common in young girls and the disease is most common in Caucasians.   Associated factors that may worsen or have been linked to rheumatoid arthritis include the following:

*genetic predisposition; it appears that when one family member has been diagnosed with rheumatoid arthritis, the chances are higher that other family members or
*siblings may also develop arthritis

*females are more likely to develop rheumatoid arthritis than males at all ages

*there is a strong belief that psychological stress may worsen the symptoms of rheumatoid arthritis. However, when the emotional stress is under control the arthritis symptoms do not always disappear suggesting that the association is not straightforward

*even though no distinct immune factor has been isolated as a cause of arthritis, there are some experts who believe that the triggering factor may be something like a virus which then disappears from the body after permanent damage is done

*because rheumatoid arthritis is more common in women, there is a belief that perhaps sex hormones may be playing a role in causing or modulating arthritis.

Unfortunately, neither sex hormone deficiency nor replacement has been shown to improve or worsen arthritis.
The cause of JIA, as the word idiopathic suggests, is unknown and currently an area of active research. Current understanding of JIA suggests that it arises in a genetically susceptible individual due to environmental factors.

Diagnosis:
Diagnosis of JIA is difficult because joint pain in children can be from many other causes. There is no single test that can confirm the diagnosis and most physicians use a combination of blood tests, x rays and the clinical presentation to make an initial diagnosis of JIA. The blood tests measure antibodies and the rheumatoid factor. Unfortunately, the rheumatoid factor is not present in all children with JIA. Moreover in most children the blood work is usually normal. X rays are obtained to ensure that the joint pain is not from a fracture, cancer, infection or a congenital abnormality.

In most cases, fluid from the joint is aspirated and analyzed. This test often helps in making a diagnosis of JIA by ruling out other causes of joint pain

Treatment :
The treatment of JIA is best undertaken by an experienced team of health professionals, including pediatric rheumatologists, nurse specialists, physiotherapists, and occupational therapists. Many others in the wider health and school communities also have valuable roles to play, such as ophthalmologists, dentists, orthopaedic surgeons, school nurses and teachers, careers advisors and, of course local general practitioners, paediatricians and rheumatologists. It is essential that every effort is made to involve the affected child and their family in disease education and balanced treatment decisions.

The major emphasis of treatment for JIA is to help the child regain normal level of physical and social activities. This is accomplished with the use of physical therapy, pain management strategies and social support.

There have been very beneficial advances in drug treatment over the last 20 years. Most children are treated with non-steroidal anti-inflammatory drugs and intra-articular corticosteroid injections. Methotrexate is a powerful drug which helps suppress joint inflammation in the majority of JIA patients with polyarthritis  (though less useful in systemic arthritis). Newer drugs have been developed recently, such as TNF alpha blockers, such as etanercept.  There is no controlled evidence to support the use of alternative remedies such as specific dietary exclusions, homeopathic treatment or acupuncture. However, an increased consumption of omega-3 fatty acids proved to be beneficial in two small studies.

Celecoxib has been found effective in one study.

Other aspects of managing JIA include physical and occupational therapy. Therapists can recommend the best exercise and also make protective equipment. Moreover, the child may require the use of special supports, ambulatory devices or splints to help them ambulate and function normally.

Surgery is only used to treat the most severe cases of JIA. In all cases, surgery is used to remove scars and improve joint function.

Home remedies that may help JIA includes getting regular exercises to increase muscle strength and joint flexibility. Swimming is perhaps the best activity for all children with JIA. Stiffness and swelling can also be reduced with application of cold packs but a nice warm bath or shower can also improve joint mobility

Complications:
JIA is a chronic disorder which if neglected can lead to serious complications. Proper follow up with health professionals can significantly reduce the chance of developing complications.

Eyes can be affected in some types of JIA. The inflamed eyes if left untreated can result in glaucoma, scars, cataracts and even blindness. Often the eye inflammation occurs without symptoms and thus it is important for all children to get regular eye checkups from an eye physician.

Growth retardation is common in children with JIA. Moreover, the medications (corticosteroids) used to treat JIA have potent side effects that can limit growth.

Children who delay treatment or do not participate in physical therapy can often develop joint deformities of the hand and fingers. Over time hand function is lost and almost impossible to recover.

Occupational therapy:
The best approach to treating a child with JIA involves a team of medical professionals including a rheumatologist, occupational therapist (OT), physical therapist, nurse and social worker.

The role of the OT is to help children participate as fully and independently as possible in their daily activities or “occupations”,  by preventing psychological and physical dependency. The aim is to maximize quality of life, and minimize disruption to the child’s and family’s life. OTs work with children, their families and schools, to come up with an individualized plan which is based on the child’s condition, limitations, strengths and goals. This is accomplished by ongoing assessments of a child’s abilities and social functioning. The plan may include the use of a variety of assistive devices, such as splints, that help a person perform tasks. The plan may also involve changes to the home, encouraging use of uninvolved joints, as well as providing the child and their family with support and education about the disease and strategies for managing it.  OT interventions will be changed depending on the progression and remission of JIA, in order to promote age-appropriate self-sufficiency. Early OT involvement is essential.

Self-care:
OTs can provide many strategies to assist children in their dressing routine. Clothes with easy openings and Velcro, as well as devices, such as buttonhooks and zipper pulls can be used. For children who have difficulty bending, a long handled reacher and sock aid is recommended. OTs may also show children how to sit during dressing so less strain is put on their joints.

OTs can help children maintain cleanliness through recommending assistive devices. For children who have trouble reaching all areas of their body, a long handled sponge with a soft grip can be provided. If children find it difficult to sit in a bath or stand in a shower, an OT can prescribe a bath bench or bath seat to be installed to help the child remain in a pain free position. If tooth brushing is challenging, a toothbrush with a larger, soft grip or an electric toothbrush may be recommended. For flossing, a flosser with an adapted handle may be provided.  Long handled hairbrushes may be used by children who have difficulty reaching the back of their head. Razors handles can be adapted for easier grip, or an electric razor may be used for shaving. The OT can also show girls wishing to use make-up, ways of increasing the sizes of the handles of make-up application tools for easier grip.

For children with pain in their hands and wrists, utensils and devices that are lightweight with large handles as well as other devices (such as angled knives, strap-on utensils, jar and bottle openers, turning handles, door knob extensions, etc.) can be provided to make the task easier, less painful and more enjoyable.[32] Tilted glasses can be used for children who have neck stiffness. Education can be provided about good eating habits that help control bone loss caused by inactivity and drug side effects. Occupational therapists provide a myriad of strategies to assist children with JIA in performing self-care tasks.

Leisure:
One of the best ways OTs can help children with JIA participate in activities with their friends is by helping them make their home exercise programs into play. Exercises are prescribed by both physiotherapists and OTs to increase the amount a child can move a joint and strengthen the joint to decrease pain and stiffness and prevent further limitations in their joint movements. OTs can provide children with age appropriate games and activities to allow the children to practice their exercises while playing and socializing with friends. Examples are crafts, swimming and non-competitive sports.

OTs will often prescribe custom made orthotics which are devices that support and correct body position and function. Orthotics help keep the child’s body in good alignment. Orthotics reduce discomfort in the legs and back when the child participates in physical activities such as sports. Splints can be used to support the joints during activity, to reduce the child’s pain and increase participation in their preferred leisure activities. Resting splints may be prescribed for children to wear during the night to reduce swelling and stiffness in joints, allowing children to have less pain and stiffness while participating in play activities.Furthermore, working splints are used to support the joint and relieve pain while working the with hands such as during crafts. A series of casts might be used to gradually extend shortened muscles allowing for increased participation in leisure activities.

OTs can help a child learn how to interact with their classmates and friends by collaboratively brainstorming strategies, role playing and modeling. OTs also help children see what activities they are good at and which ones give them difficulty. Furthermore, OTs can help children learn to communicate their pain to others. Benefits of OT treatment include: improved social interaction, improved self-confidence and a positive self-image. OTs can help children build friendships with other children suffering from similar diseases to help them feel less alone or less different from others. Many OTs run summer camps for children with similar diseases so children can get to know others with their disease. Education sessions on JIA and leisure, and activities such as swimming, canoeing and nature trails are common.

For children who find that cool or damp weather make it hard to play with friends outside, OTs can give ideas for clothing that will keep the child warm and dry without limiting movement. An example of this is biking gloves which allow children to move their fingers while still keeping their hands warm, as opposed to large winter gloves which limit hand function. Warm pajamas and electric blankets can reduce pain and improve sleep.

Prognosis:
With proper therapy, some children do improve with time and lead normal lives. However, severe cases of JIA which are not treated promptly can lead to poor growth and worsening of joint function. In the last two decades, significant improvements have been made in treatment of JIA and most children can lead a decent quality of life. The prognosis of JIA depends on prompt recognition and treatment. Finally, it is important for both the child and family member to be educated about the disorder. The more educated the person, the better the care you can receive. Chronic JIA is no longer the dreaded disease where one remains home bound. Many children with JIA have gone on to play professional sports and have a variety of successful careers

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:
http://www.bbc.co.uk/health/physical_health/conditions/in_depth/arthritis/aboutarthritis_children.shtml
http://en.wikipedia.org/wiki/Juvenile_idiopathic_arthritis
http://www.healthline.com/channel/juvenile-rheumatoid-arthritis_symptoms
http://www.seattlecca.org/diseases/juvenileidiopathicarthritis-overview.cfm?gclid=CLCm7aSepakCFcO8Kgodl2kxyQ

http://apps.ashland.edu/index.php/File:Arthritic_joints.jpg

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Herbs & Plants

Bladderwort

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Botanical Name : Utricularia vulgaris
Family: Lentibulariaceae
Genus: Utricularia
Species: U. vulgaris
Kingdom: Plantae
Order: Lamiales

Common Name:Bladderwort

Habitat :Bladderwort found in Asia and Europe. In eastern Asia and North America, its place is taken by the related species U. macrorhiza.

Description:
Bladderworts are carnivorous plants with delicate, finely-divided underwater leaves and emergent snapdragon-like yellow flowers. The most distinctive underwater features are the small bladder-like traps. These traps use a vacuum to capture small invertebrates or even tiny fish that trigger the trap door. Enzymes are secreted to digest the prey which provides the plant with nutrients. Several bladderwort species are found in Washington. click & see

click to see the pictures

Leaf: No true leaves. Instead both species have green, highly branched, finely divided underwater leaf-like stems with small seed-like bladders. Bladderwort plants often appear dense and bushy underwater. Swollen bladderwort has a distinctive spoke-like whorl of 4 to 10 wedge-shaped floating leaves, 4 to 9 cm long, which supports the flower stalk.
Stem: The branched stem is up to 2 m long and can be floating, submersed, or partly creeping on the sediment, sometimes anchored at the base by root-like structures.

Flower: Yellow, snapdragon-like flowers occur above the water. Swollen bladderwort: flowers to 20 mm wide, in groups of 3 to 14 on upright stalks supported by a spoke-like float. Flowers in spring in Washington. Common bladderwort: flowers to 25 mm wide on stout stalks, with a prominent spur projecting below the lower lip of the flower. Flowers often have faint purple-brown stripes. Flowers in late summer.

Fruit: Capsule contains many seeds. Swollen bladderwort: fruit stalk (pedicel) to 35 mm long. Common bladderwort: fruit stalk (pedicel) to 20 mm long.

Root: None.

Propagation: Fragments, seeds. Swollen bladderwort: may form tiny tubers, small coiled winterbuds. Common bladderwort: may form very large (4-5 cm across) bright green winterbuds.

Medicinal Uses:
The whole plant is mildly astringent, diuretic and vulnerary. It is used as a poultice on wounds.

Other Uses:Food and cover for fish. Food for muskrats and waterfowl. Habitat for aquatic invertebrates. Swollen bladderwort: can become invasive.

Disclaimer:
The information presented herein is intended for educational purposes only. Individual results may vary, and before using any supplements, it is always advisable to consult with your own health care provider.

Resources:
http://www.ecy.wa.gov/programs/wq/plants/plantid2/descriptions/utrinf.html
http://en.wikipedia.org/wiki/Utricularia_vulgaris
http://www.herbnet.com/Herb%20Uses_AB.htm

http://www.actaplantarum.org/cpg1414/thumbnails.php?album=2637

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Ailmemts & Remedies

Joubert syndrome

Alternative Names:  Cerebellar vermis agenesis or Cerebelloparenchymal disorder IV

Definition:
Joubert syndrome is a rare inherited disorder of the brain. It is a genetic birth defect in which the area of the brain that controls balance and coordination is underdeveloped.It is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia).

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An area at the back of the brain which is important for balance and co-ordination, called the cerebellum normally has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop properly. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia.

The severity of the condition varies from child to child, depending on the extent of the abnormalities of the brain. Some children are only mildly affected while others (even within the same family) have severe disabilities.

It occurs in both males and females, in about one in 100,000 births. Joubert syndrome often occurs in a child with no family history of the disorder, but in some children the syndrome appears to be inherited.

Symptoms:
The symptoms of Joubert syndrome are related to the underdevelopment of an area of the brain called the cerebellar vermis, which controls balance and muscle coordination. The symptoms, which may range from mild to severe depending on how much the brain is underdeveloped, may include:

•Periods of abnormally rapid breathing (episodic hyperpnea), which may seem like panting

•jerky eye movements (nystagmus)

•characteristic facial features such as drooping eyelids (ptosis), open mouth with protruding tongue, low-set ears

•mental retardation

•difficulty coordinating voluntary muscle movements (ataxia)
Other birth defects such as extra fingers and toes (polydactyly), heart defects, or cleft lip or palate may be present. Seizures may also occur.

Causes:
Joubert syndrome is a genetic abnormality inherited in an autosomal recessive fashion. This means that if both parents are carriers, there is a 1 in 4 chance that each child will have the disease.

Diagnosis:
The most pronounced symptom in a newborn infant with Joubert syndrome is periods of abnormally rapid breathing, which may be followed by stopping breathing (apnea) for up to one minute. Although these symptoms may occur in other disorders, there are no lung problems in Joubert syndrome, which helps identify it as the cause of the abnormal breathing.

A magnetic resonance imaging (MRI) scan can look for the brain abnormalities that are present in Joubert syndrome and confirm the diagnosis.

Treatment:
There is no cure for Joubert syndrome, so treatment focuses on the symptoms such as breathing problems and to support the child’s development.. Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night. Physical, occupational, and speech therapy may be helpful for some individuals. Individuals with heart defects, cleft lip or palate, or seizures may require more medical care.

Prognosis:
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Research:
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.

Research has revealed that a number of genetic disorders, not previously thought to be related, may indeed be related as to their root cause. Joubert syndrome is one such disease. It is a member of an emerging class of diseases called cilopathies.

The underlying cause of the ciliopathies may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect “numerous critical developmental signaling pathways” essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.

Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.

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:
http://www.bbc.co.uk/health/physical_health/conditions/joubert1.shtml
http://www.ninds.nih.gov/disorders/joubert/joubert.htm
http://www.ninds.nih.gov/disorders/joubert/joubert.htmhttp://www.ninds.nih.gov/disorders/joubert/joubert.htm

http://www.joubertfoundation.com/

http://www.health-news-blog.com/blogs/permalinks/6-2007/the-fifth-gene-responsible-for-joubert-syndrome.html

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