Doctor insights on:
Rett Syndrome In Children
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
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
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
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
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
Rhett: Found almost only in girls so XX karyotype. ...Read more
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
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
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
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
Yes: Rettsyndrome. Org.Get a more detailed answer ›
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
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
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
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
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
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
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
Not known: I know of no association.Get a more detailed answer ›
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
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
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