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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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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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Edward’s syndrome

Alternative Names:Trisomy 18 (T18), Trisomy E or Edwards syndrome

Definition:
Edward’s syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term.

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A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18.
Trisomy 18 is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus or infant‘s cells. The incidence of the syndrome is estimated as one in 3,000 live births. The incidence increases as the mother’s age increases.  Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death.The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000.

Edwards’ syndrome occurs in around one in 6,000 live births and around 80 per cent of those affected are female. However, the majority of babies with the syndrome die before birth.

It affects people from all cultural backgrounds and becomes more likely with increasing maternal age.

Symptoms:
The features and problems that develop in children with Edwards’ syndrome vary from child to child.

Typically, a child will have a small head with characteristic facial features including a small jaw and mouth, upturned nose, widely spaced small eyes with narrow eyelid folds and drooping of the upper eyelids, and low-set, malformed ears.

The hands may be clenched, with the second and fifth fingers overlapping the other fingers, and the thumbs may be underdeveloped or absent. Webbing of the second and third toes may also occur.

In addition to these features, all systems of the body may be affected. Structural malformations of the heart, kidneys, brain, digestive tract and genitals may be present and cause the child difficulties. For example, children with the syndrome often have trouble feeding and breathing, and experience delay in growth and development. Infections of the lungs and urinary system are also common.

Diagnosis:
At birth, if physical characteristics suggest the possibility of Edwards’ syndrome, this can be confirmed with genetic testing.

An ultrasound during pregnancy can often identify foetal abnormalities, providing the opportunity for genetic testing by amniocentesis.

Treatment:
There’s no cure for Edwards’ syndrome, but medical treatment of symptoms is provided as required.

Treatment focuses on providing good nutrition, tackling infections – which arise frequently – and helping the heart to function better.

Many babies with Edwards’ syndrome have difficulties with feeding, so food may be given via a nasogastric tube or directly into the stomach through a gastrostomy. Where limb abnormalities affect movement, physiotherapy and occupational therapy can help.

Emotional support for parents and other members of the family is vital, as babies with Edwards’ syndrome have a shortened life expectancy. Few survive beyond their first year.

Prognosis:
In England and Wales, there were 495 diagnoses of Edwards’ syndrome (trisomy 18) in 2008/2009, of which 92% were made prenatally. There were 339 terminations, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births. Because approximately 3% of cases of Edwards’ syndrome with unknown outcomes are likely to result in a live birth, the total number of live births is estimated to be 37 (2008/09 data are provisional). Only 50% of liveborn infants live to 2 months, and only 5–10% survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of a child with Edwards syndrome during pregnancy or the neonatal period. The median lifespan is 5–15 days. One percent of children born with this syndrome live to age 10, typically in less severe cases of the mosaic Edwards syndrome. The small percentage of babies with the full Edwards syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.

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.ispub.com/journal/the_internet_journal_of_third_world_medicine/volume_4_number_1_53/article/edwards_syndrome_in_a_neonate_from_a_developing_country_reasons_for_concern_a_case_report.html
http://www.netdoctor.co.uk/ate/pregnancyandchildbirth/205249.html
http://www.wrongdiagnosis.com/e/edwards_syndrome/intro.htm
http://en.wikipedia.org/wiki/Edwards_syndrome
http://www.bbc.co.uk/health/physical_health/conditions/edwardssyndrome2.shtml

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