hi
You can not tell if someone has autism from a scan
all it can do is pick up problem areas for epilepsy and such
An important purpose of a comprehensive health evaluations for children with suspected autism is to identify possible associated medical conditions that are seen more commonly in children with autism than in the general population. These associated medical conditions include a variety of neurological problems (such as seizure disorders), genetic syndromes (such as Fragile X syndrome, a specific genetic disorder that is sometimes associated with the clinical picture of autism) and metabolic disorders. provides a list of medical conditions and syndromes that are more common in children with autism than in the general population.
these can be seen on an mri scan they can only rule these out untill autism is all thats left
Cytomegalovirus infection
Duchenne muscular dystrophy
Encephalitis
Fragile X syndrome
Haemophilus influenzae meningitis
Seizures
Some of the health conditions associated with autism may benefit from early identification and appropriate treatment. For example, seizure disorders, hypothyroidism and some metabolic disorders are important to diagnose and treat as early as possible. In other cases, there may be no specific treatment for a condition, but identifying the condition may still be beneficial. For example, for some genetic conditions associated with autism (such as Fragile X syndrome), the primary benefit of early identification may be to provide appropriate genetic counseling to the parents.
specific methods for assessing hearing problems, seizures and Fragile X syndrome, which are three of the more common associated health conditions seen in children with autism.
Common physical, behavioural and developmental features of fragile-X syndrome
| Physical features |
Behavioural Features |
Developmental Features |
| Broad forehead Elongated face Large, prominent ears Strabismus High arched palate Malocclusion of teeth Hand calluses (due to self-injury) Dermatoglyphics: |
Attention deficit hyperactivity disorder
Psychiatric disorders
|
Intellectual disabilities:
Fine and gross motor delay
|
Cognitive functioning
Males - although the level of severity of intellectual disability among boys is equally distributed between mild and severe, the majority of men with fragile-X syndrome have moderate-to-severe degrees of intellectual disability. Specific cognitive profiles show that they have particular difficulties in sequential processing, with short-term memory deficits manifesting as a weakness in arithmetic and visuospatial skills. In spite of the reported decline in IQ test scores with age, adaptive behaviour improves with appropriate training. Although there is no correlation between the size of the CGG repeat (within the full mutation range) and degree of intellectual impairment in males, lower expression of FMRP is thought to correlate with IQ in mosaic males, males with a partially methylated full mutation and full-mutation females.
Females - 50% of female carriers have cognitive impairment. The remaining 50% may demonstrate below-average intellectual functioning (IQ 70-100), specific learning difficulties, and/or psychosocial problems. Affected females without intellectual disability may have specific deficits in the areas of attention, visuo-spatial skills, shyness and social anxiety, and executive functions. The less serious effects in females may be due to the fact that they have two X chromosomes, of which only one is active in each cell. This increases the chances a normal FMR-1 gene owing to random X chromosome inactivation.
Speech and language delay is an early symptom, with first words appearing at about 2 years and short sentences at 3 years. Some children do not develop speech at all. Language ability may be appropriate for an individual's cognitive level, but others often display 'jocular litanic phraseology' with echolalia and speech dysfluency, or 'cluttering'.
Management
While there is no cure for fragile-X syndrome, many areas of intervention can improve the lives of those affected and their families. All affected people can make progress with proper education, therapy and support. A multidisciplinary approach is necessary to manage the multifaceted problems encountered. Each child should be formally assessed to establish his or her needs. Speech therapists, behavioural therapists, special educators and paediatricians are all likely to be involved.
The early years are of vital importance for stimulating maximum learning in children with the syndrome, and intervention at this stage can prevent many problems later. Services that can be offered include family training to encourage physical, speech and sensory training, and the promotion of a routine for the child, which helps to alleviate anxiety.
Family education and counselling is essential to facilitate parents' acceptance and understanding of the child and to encourage patience and persistence with a child who may seem uncooperative. Daily living skills, which include eating, sleeping and personal hygiene and toilet training, can be challenging for children and adults with fragile-X syndrome and this form of developmental delay without support can be a long and frustrating experience for the family.
Managing difficult behaviour - aggressive behaviour occurs in 20-30% of individuals with fragile-X syndrome. It is related to problems with impulsivity, over-reactivity to stimuli, high anxiety levels, adverse reactions to changes in routine, and mood instability. Individuals may be described as violent and unpredictable but their behaviour is often misunderstood and may represent a desire to be left alone or to escape a threatening situation rather than malicious intent. Concomitant use of behaviour modification with counselling and psychotropic medication can be beneficial in managing aggression. Stimulants such as methylphenidate, and other medications such as clonidine may be effective if the child has attention deficit hyperactivity disorder (ADHD) or if the aggression stems from impulsive behaviour. Alternatively, selective serotonin reuptake inhibitors (SSRIs) can be considered if excess anxiety, obsessive-compulsive features or depression are causes of their aggressive behaviour.
Special needs education should provide structured activities suitable for children with a short attention span, and there should be minimal auditory and visual distractions in the classroom. Teaching support often emphasizes face-to-face contact, yet individuals with fragile-X syndrome often find gaze contact highly aversive.
Strengths and weaknesses - most children with the syndrome have good imitation skills and functional life skills once acquired. Their weaknesses are poor auditory short-term memory, poor sequential processing, difficulties with numeracy and visuo-spatial skills and abstract thinking. A teaching plan must be devised to optimize a child's stronger areas without ignoring those that may be problematic and so require special attention.
Managing associated medical conditions - cardiac functioning needs to be assessed because of the increased incidence of mitral valve prolapse and cardiomegaly. Seizure disorders usually respond well to anticonvulsants such as carbamazepine and sodium valproate. Antipsychotics are indicated for psychotic symptoms, but care must be taken in those with comorbid epileptic seizures. SSRIs are usually reserved for comorbid depression and overwhelming obsessive-compulsive problems.
The future
Increasing awareness of the condition has resulted in the growth of national and international fragile-X societies. However, many families remain undiagnosed. Most of the features discussed in this contribution were described on cytogenetically-confirmed cases. The advent of newer tests has brought with it the need to revisit some of these features and to re-estimate the true prevalence of fragile-X syndrome. Although the exact function of FMRP is not yet known, the mapping of the human genome has paved the way for possible gene therapy or the more feasible protein replacement approaches. More pieces of the genetic puzzle are emerging, such as recent reports of Parkinson-like neurological symptoms among grandfathers of individuals with fragile-X syndrome. Finally, the use of the FMRP antibody test promises to revolutionize screening and improve case detection.
Hello all -
Had an appointment with neurologist today for my 3 year old boy. He did not dx him, said he does have some signs of being on the asd but is always hesitant the first visit.
He ordered an MRI, EKG, and test for fragile x and lead
Have you all gone through this??? Is the MRI to rule out anything else beside autism?
We are probably going to go through EI in our school district and continue, speech, occupational and possibly do something called the play project.
At our visit he was not scared of doctor at all - looked him in eye quite a bit, told him what objects he was holding up...etc.... But doctor saw some signs as well of asd.
So, i guess we will continue on, wish i could of got more answers today but i understand his point.
Would anyone of you suggest going to see a dev ped??
thanks so much!!!!
I personally would not see a dev. ped at this point. The neurologist sounds thorough, and EI is the most important place to go because it's through them that you get services and help for any delays your child has.
A lead test and hearing testing is recommended by the neurologist association for all children with suspected developmental delays.
My son had the MRI and EEG to rule out other things. He also had the fragile X screening.
Good luck with everything.
Depending on what is available in your area...Do you have an autism center? We went through a ped. psych at an autism center to get a diagnosis and she helps guide his treatment. A neuropsych could do the same. In our area these folks are more valuable than a developmental ped. Some others have had a lot of success with developmental ped's.
We did visit a neurologist, but didn't do the MRI and EKG. He said we could if we really wanted it (he didn't really recom. it), and we decided to just do the blood work. l
I would encourage you to follow up with the school district and get services moving. My son also does the PLAY project and it is wonderful--It's the Floortime method.