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Doctor insights on: Rett Syndrome In Children

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What is rett syndrome?

What is rett syndrome?

Complex genetic prob: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use. Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.Studies have linked many rett syndrome cases to a defect in the mecp2 gene. This gene is on the x chromosome. Females have two xs. Males do not live. ...Read more

Dr. Seema Lalani
64 Doctors shared insights

Rett Syndrome (Definition)

A rare genetic mutation affecting ...Read more


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Who makes rett syndrome diagnosis?

Who makes rett syndrome diagnosis?

Pediatrician: A good experienced pediatrician can make the diagnosis, especially if they have other patients with rett's. ...Read more

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Can someone explain rett syndrome?

Can someone explain rett syndrome?

Disorder OF NERV SYS: Rett syndrome is a disorder of nervous system, it leads to developmental reversal, especially in areas of expression and hand use
it happens mostly in girls and is often mis diagnosed as autism etc.
There is normal development 6to18months
symptoms vary mild and severe
severe language/developmental problems, loss social intraction, loss of purposefull hand motions, ataxic gait, breathing problems, &more. ...Read more

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What's transmission of rett syndrome?

What's transmission of rett syndrome?

Rare genetic: Rett syndrome can be associated with a specific gene marker that can be transmitted to a child. However, it is rare to find such an association since most girls with rett do not have children. It is usually a sporatic disorder that occurs without reason. ...Read more

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What can I do to treat rett syndrome?

What can I do to treat rett syndrome?

Rett syndrome: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use. Treatment may include: assistance with feeding and diapering, methods to treat constipation and gerd, physical therapy to help prevent the hands from contracting, weight bearing exercises for those with scoliosis. There is no specific treatment. ...Read more

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What are the tests for rett syndrome?

What are the tests for rett syndrome?

Clinical: A girl who begins life seeming normal but develops autistic-like features can usually be diagnosed by a skilled clinician who can tell if it is rett's. Several genes are known, and can be tested for purposes of counseling / peace of mind, but some remain undiscovered. Good luck. ...Read more

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What are the symptoms of rett syndrome?

Regressed developmen: The hallmark is a developmental regression usually starting in the first 2 years. This is associated with loss of visuion ...Read more

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How can you tell a child has mild rett syndrome?

How can you tell a child has mild rett syndrome?

Genetic testing: Rett´s syndrome is a genetic disorder almost always affecting girls.
Genetic testing as well as a very detailed exam can give you answers. Typically girls start off with normal development up until about 18 months, sometimes the first symptom is the arms and legs get floppy, and loss of hand movements that are purposeful. It afects the brain, cognition and breathing patterns amongst other things. ...Read more

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What is the karyotype of someone with rett syndrome?

What is the karyotype of someone with rett syndrome?

Normal: Karyotyping usually shows normal 46 XY or 46 XX karyotype. Needs to do specia probe to look for gene mutation for MECP-2 gene ...Read more

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I want to know what's the karyotype of rett syndrome?

I want to know what's the karyotype of rett syndrome?

Genetics: Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the x-linked mecp2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal x-chromosome.
For more info, consult with a geneticist. ...Read more

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What is the definition or description of: Rett syndrome?

What is the definition or description of: Rett syndrome?

Rett syndrome: Jett's is a genetic syndrome seen in females with
me protein disturbance that causes neurodevelopment delays, delayed walking, speaking and waving arms/hands, misdiagnosed as autistic syndrome.
A developmental pedi MD can tease this out. There is no cure and a limited lifespan. ...Read more

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What are the odds of having another child with rett syndrome?

What are the odds of having another child with rett syndrome?

Very low: 99.5% of the time, there is just one child with rett syndrome in a family. This rare genetic condition occurs almost always in girls. It's caused by a mutation of the mecp2 gene on the x chromosome. The international rett syndrome foundation (http://www. Rettsyndrome. Org/) can be very helpful. ...Read more

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Is there a cure for rett syndrome?

No: This is a progressive, debilitating disease that predominantly effects the nervous system. The patient often appears normal in infancy but the abnormalities are hard wired into the system and have no available treatment. Supportive care allows patients the best possible life within their short lifespan. ...Read more

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What is the cure for rett syndrome?

What is the cure for rett syndrome?

No cure: The treatment for Rett syndrome is supportive. At every stage of the process the kid will need basic health care and assistance with support services. The goal is to preserve the best quality of life while the patient lives. ...Read more

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What causes Rett Syndrome? Can adults get Rett Syndrome? I hope not!

What causes Rett Syndrome? Can adults get Rett Syndrome? I hope not!

Genetic disease: Rett syndrome is a neurodevelopmental disorder caused by a mutation in a gene which occurs almost exclusively in females. The disease manifests itself within a year or so of birth. Children lose the ability to speak, develop stereotypic and unique midline hand movements and develop a clumsy gait. Adults can't get it. ...Read more

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My daugther diagnos of a rett syndrome case she is awake frm. 10am to 7pm, what medicine should I give her o sleep ar night. Thanks?

My daugther diagnos of a rett syndrome case she is awake frm. 10am to 7pm, what medicine should I give her o sleep ar night. Thanks?

Homeopathy: I'd recommend: coffea cruda 9 c: 5 pellets at night, under the tongue, or diluted in few cc of water, it is sweet, safe, no side effect. You can find it online or in health vitamins store. Manufactured in the usa by boiron, fda approved, inexpensive and again safe. Good night! ...Read more

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What is the best therapy for rett syndrome?

What is the best therapy for rett syndrome?

Supportive: Unfortunately, there is no treatment that will cure this process. Each patient will gradually accumulate a series of medical needs as the disorder progresses. A primary doc is needed to coordinate care and handle basic needs and specialty docs would be needed on a periodic basis. The focus of care is preserving function for as long as possible and maintaining a quality of life. ...Read more

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Does rett syndrome make girls overweight?

Does rett syndrome make girls overweight?

Probably not: This is a very rare disorder: 1 in 10, 000 due to an x-chromosome linked genetic disorder. Feeding is a problem, esophageal reflux is common, and death is sometimes due to malnutrition. Here is a national institute of health link: http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002503/
i've never seen a case and few doctors have. I sympathize with your child's condition. Good luck. ...Read more

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Rett syndrome caused by efexor neonatal use?

Rett syndrome caused by efexor neonatal use?

No: This syndrome is caused by a gene mutation, and as such will be present at conception. The exposure of a developing fetus after the fact will not change this mutation. This sporadic syndrome occurs without any exposure to ssri meds or any other defined agent prior to pregnancy or during pregnancy. ...Read more

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Is there a conncection between rett syndrome and bald spots?

Is there a conncection between rett syndrome and bald spots?

Nice question: Rhett's syndrome is a pervasive developmental disorder peculiar to girls. Odd & purposeless hand motions such as excessive rubbing can lead to focal areas of hair loss. Trichtillomania (neurotic pulling out hair) requires purposeful fine motor coordinated action to pull hair. So rubbing is the way a rett child would lose hair patches. ...Read more

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How long do Down syndrome children live?

How long do Down syndrome children live?

Variable: They do die relatively young in the 20s and 30s but they thrive on love just the same as normal kids and their death is unpredictable. ...Read more

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How to train children with down syndrome?

How to train children with down syndrome?

For an assessment: Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more

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Rubinstein-taybi syndrome do children have it?

Rubinstein-taybi syndrome do children have it?

Yes: The original series reported by rubinstein & taybi in 1963 involved children. Developmental delay and mental deficiency are generally seen in early childhood. ...Read more

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What can cause "failure to thrive syndrome" in children?

Many issues: This is a descriptive term indicating an infant or child who fails to meet the parameters for age and size and weight and in fact is falling down. This is an index of problems that need explanation. Categories: child abuse, malabsorption, severe infection, chronic illness, cancer, blood dyscrasias, inherited issues. Your pediatrician should be consulted immediately to sort this out. ...Read more

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What are the characteristics of Down syndrome in children?

What are the characteristics of Down syndrome in children?

DS Phenotype: Flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more

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What are some tips for caring for asperger's syndrome children?

What are some tips for caring for asperger's syndrome children?

Ensure quality sleep: Sleep disorders are common in children with asperger's. It is important to ensure that your child has a regular sleep routine and an appropriate amount of sleep. If he/she is struggling with insomnia it is worth bringing to your doctor's attention. ...Read more