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- Mon Dec 07, 2009 1:50 pm
Hi everyone, my daughter is 6 years old and she was diagnoised with cerbal plasy in 2004. She has plenty of commone sense but, needs help academic wise. She can tell me what she wants adn does wants if something is hurting or itching. She goes to the bathroom by herself and can walk without her walker but, she tends to walk to fast and ends up falling. My question is that she's going to a gentics center to be tested but I don't know what gene they should test for. I did some research myself and it besically said sometime spastic dipegia is often misdignosed. Please give me some advice as to what I should do.
| Dr.M.Aroon kamath
- Mon Dec 28, 2009 12:00 pm
To say that spastic diplegia can be misdiagnosed is an understatement!
A phenomemal challenge to researchers in the field of cerebral palsy has been to discern the difference between a specific cause or causes from 'epiphenomena' (events associated with causes but not the causes themselves).
Development of the brain starts in early pregnancy and goes on until about age of three years. Damage to the brain during this time may result in cerebral palsy (antenatal or postnatal).
Cerebral palsy is a name given to a collective of neurologic conditions that share in common disorders of motor function and posture that are esentially non-progressive.
Traditionally, and even to this day, to many, this term is almost synonymous with brain injury. Available evidence however, points to the fact that cerebral palsy is rarely caused by problems with perinatal management. Actually, there is gathering evidence which points to strong genetic influences in its causation. Like most neurogenetic conditions, cerebral palsy exhibits features of complex “multifactorial inheritance,” which simply means that etiologic and genetic heterogeneity coupled with multiple environmental influences appears to be responsible.
Cerebral palsy is the most common neurological disorder in children. Epidemiological evidence suggests that antenatal origins are a major cause.
The 'causes' could be wide-ranging( structural abnormalities of brain, perinatal events, genetic, viral, metabolic etc)
Currently there is no reliable diagnostic antenatal test for cerebral palsy, no proven preventable measures in late pregnancy, and ofcourse,no known cure.
Children are usually not diagnosed until after age 1 year, with the condition becoming evident as children fall short of the expected developmental milestones.
If the condition is suspected,neuroimaging (CT or MRI) is mandatory.
CT scan is useful if abnormal. It may reveal a potentially treatable lesion (e.g. arterio-venous malformations,Hydrocephalus)
MRI (higher 'abnormal' yield) is useful to gather information on the timing of brain injury (pre/peri/postnatal), and often suggests the etiology.
Metabolic and genetic testing is not routinely performed since the genetic or metabolic causes are rare (0-4% ofall cases). But, if history or findings on neuroimaging are atypical and do not indicate a specific structural intrracranial abnormality, metabolic and genetic testing may be considered.(glutaric acidurea,homocystinurea,and Hyperarginemia, are some of the common treatable metabolic causes of cerebral palsy).
Argininemia, a rare autosomal recessive disorder of the urea cycle, is caused by a deficiency of the enzyme arginase, resulting in raised plasma ammonia & arginine levels.
With dietary therapy, these children may show improved cognitive and motor function.
If neuroimaging does not show any abnormality,then,testing for genetic or metabolic causes assumes importance.
It is probable that your child was diagnosed with cerebral palsy around the age of 1 year & no structural abnormality was detected on neuroimaging.I hope that some treatable cause is found on genetic/metabolic testing.