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Doctors Get New Recommendations For Diagnosing Disabilities

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Genetic counselor Michelle Fox, right, talks with William Hanberg and Heather Spear about development concerns with their daughter EmmaRose. The American Academy of Pediatrics is putting out new recommendations for doctors diagnosing children with intellectual disability and global developmental delay. (Jay L. Clendenin/Los Angeles Times/MCT)

Genetic counselor Michelle Fox, right, talks with William Hanberg and Heather Spear about development concerns with their daughter EmmaRose. The American Academy of Pediatrics is putting out new recommendations for doctors diagnosing children with intellectual disability and global developmental delay. (Jay L. Clendenin/Los Angeles Times/MCT)

A major pediatricians’ group is issuing new guidelines for physicians diagnosing intellectual and other developmental disabilities.

In a clinical report published Monday in the journal Pediatrics, the American Academy of Pediatrics updated its recommendations, which were first released in 2006.

Specifically, the new report emphasizes advances in genetic testing in recent years that can aid in providing a more precise diagnosis for children with various delays.

In cases where a child has been identified as having intellectual disability or global developmental delay, but the cause is unknown, doctors are advised to work with a genetics specialist to conduct chromosomal microarray testing, which can detect genetic abnormalities, and fragile X testing. Metabolic testing should also be considered, the guidance indicates.

If the tests do not produce any conclusive result, physicians are then urged to consider other approaches depending on the gender of the child and possibly perform a brain MRI and refer patients to outside specialists.

It is important to identify the root of a child’s disability, when possible, to provide the most appropriate treatment plan, the report said. What’s more, identifying a precise diagnosis can help families manage expectations, advocate for their child and obtain services and supports, they indicated.

Beyond diagnosing children, the recommendations also emphasize the responsibility doctors have to help connect families with special education and developmental services.

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Comments (22 Responses)

  1. Laura says:

    You can still have all those tests done and still have no answers! They used both our daughters as guinea pigs to find answers and never did to this day.

  2. VMGillen says:

    Aha! a way to grease the rails for the practitioners’ income stream. Sorry – I agree with Laura. And, when there is a diagnosis, remediation is tailored to fit the Dx, not the individual. Or, in the case of something like ASD, which lacks etiology, with the exception of intense and well planned behavioural modification, intervention is a crap-shoot.

  3. Judi says:

    As a grandparent of a child with autism, I am particularly concerned with early and accurate diagnosis of this type of developmental delay. Since early intervention is the best hope for the best outcome, making an early diagnosis is key. Since presently there is no genetic or physiological test for autism, it is incumbent upon pediatricians to act as the first line of defense that they were meant to be. They must be encouraged to administer the M-Chat screening tool as is recommended by the AAP, and parents must demand that it be given at 18 and 24 month check-ups. Currently, many parents are not aware of its importance (or its online availability) and many pediatricians are not following AAP guidelines. Some are even dismissing parental concerns. In addition, when there is an indication of autism, pediatricians must refer to appropriate professionals. Many still do not.

  4. Judith Greenbaum says:

    It is equally important for doctors to get on the same page as educators regarding such terminology as “severe” . Too many doctors describe a disability as severe when educators would describe it as mild or moderate. Too many doctors close out the future of a child with disabilities when that child can live a satisfying life.

  5. Mary Jane says:

    This looks like a positive step as much has come to light since 2006. If it helps a parent search for the optimal course of action for their child, the results will be most beneficial as early as possible. I also agree with Judith….The meaning of the terminology is critical..We personally were told our adopted son of 18 months would never have use of his right side or be successful in life. Although devasted by this specialist, we never accepted the prognosis and today he is a Food and Beverage Director of a major Hotel.

  6. Theresa Fears says:

    I especially like the “responsibility doctors have to help connect families with special education and developmental services” part.

  7. Bessie says:

    I am not surprised that doctors want to use these test to determine a developmental disability. We have charged doctors with making a diagnosis based on knowledge of child development and observations. Many of these doctors have no interest in this work. They are medical doctors and they are trained to address medical issues so they are looking toward more medical definitions and tests.

    These testing are great to identify a genetic issue. However, a diagnosis should be made before these tests. I am afraid that these tests and procedures will make it more difficult for children to get a diagnosis. I can only imagine how it will be assumed that a child does not have a disability because they are unable to find a genetic root or some brain abnormality.

  8. sharon bourn says:

    they have been diagnosing fragile x syndrome thru a blood draw for years hows this just come about now mine have fragile x syndrome and are in there 20s

  9. Bronwyn says:

    I really wish my concerns about my daughter were addressed. I was told my concerns were normal not out of ordinary. Dr refused to do autism testing as he decided she wasn’t autistic. No she wasn’t but I needed to have it ruled OUT. Nowhere was I given a suggestion of genetic testing but…saw a genetics person for an unrelated issue. Blood drawn…result fragile X syndrome. Back to pead office told your daughter has fragile she will go to special school and be fine…about 20 times. Actually she does not go to special school.
    Yes you may not find a cause but without testing you never will.

  10. FBClark says:

    And on the flip side, or the dark side of this, there’s the double issue of the latest legal issues revolving around the terms ‘Wrongful Birth’ and ‘Wrongful Life’. Doctors can be sued by parents and even by the grown individuals who could have been found to be ‘defective’ and could have been ‘terminated’ in order to prevent ‘inconveniences’. Web search those two terms and prepare to be dismayed … or thrilled, depending on your views regarding abortion.
    These tests are not just in a small part doctors protecting themselves from the aforementioned terms.

  11. Karen says:

    These are all great ideas but who is going to ensure that the family will have adequate health care to afford these services? I wouldn’t be able to afford all of these tests for my son.

  12. autism mom says:

    My son who regressed at age 2 and was dxed with pddnos at age 3 had a chromosomal microarray analysis done at the recommendation of his neurologist and the results came back “normal” per the lab report. So what is causing autism in children who are genetically “normal” and why isn’t anyone investigating these cases?

  13. Bronwyn says:

    I’m surprised at the thinking this is just making drs rich comments. I have mentioned my daughters diagnosis and my struggle to get a dr to listen. We don’t know causes of autism for many of developmental delay but in testing a child is given an opportunity to ensure a genetic cause isn’t the issue. We still may not know but we may. Fragile X is different to autism in aetiology and treatment and knowing my daughter has it has meant other family members have been able to make informed decisions in relation to having children.

  14. Paul says:

    As a psychologist, I’m incredulous at how many family physicians/pediatricians have never heard of the M-CHAT. The new Gilliam-3 has also been revised to comply with DSM-5 diagnosis of ASD. Physicians need to become familiar with both and be able to corroborate parents’ observations of behavior.

  15. Michele Lopez says:

    All doctors should refer children and families to their home school district. That is where the child will be educated, so they should do the diagnosing too!

  16. M. Cracker says:

    THIS IS FABULOUS NEWS! I WORK W/FAMILIES WHO STRUGGLE TO GET SERVICES, ESPECIALLY W/YOUNGER CHILDREN AS THEY FIT IN “NO” BOX. MANY ARE DRUG AND ALCOHOL EXPOSED AND HAVE EARLY CHILDHOOD NEGLECT AND ABUSE. ALL OF WHICH EFFECT THE BRAIN, BUT SOMEWHAT DIFFERENTLY DEPENDING ON THE STAGE OF THE PREGNANCY OR AGE OF THE CHILD. SO REGIONAL CENTERS AND SCHOOLS DELAY CRITICAL SUPPORT UNTIL MUCH LATER WHEN IT IS VERY EVIDENT, BUT BY THEN SO MUCH PRECIOUS EARLY INTERVENTION TIME IS LOST….

  17. patm says:

    Again all the money is being spent on assessments and there will be no money to actually treat their disabilities and get them to a functional state. Same problem with the Affordable Care act.

  18. Evelyn Schleidt says:

    Who would be responsible for paying for these tests which are probably very expensive? I’m not sure insurance companies would pay, so does that mean a child’s parents would have to pay for this?

  19. Bessie says:

    I must say that an autism evaluation is not expensive. The fancy expensive tests are not more accurate, and in many cases less accurate, than the simple screenings and assessments. The M-CHAT is simple and in most cases FREE. It is a great tool. Many health plans will pay for the Fragile X blood test. Remember that all these fancy tests including brain scans cannot detect autism. I believe that too many of us are looking for some fancy name doctor with sophisticated machines. It is best to find a knowledgeable and experienced professional.

  20. NICOLE LEBLANC says:

    We need to spend less $$$$ on curing and eliminating disabilities and focus more on helping people live successful lives in the community!!! Abortion should be OUTLAWED!

  21. Debbie says:

    It’s important to get our littlest kids the services they need as soon as a delay is suspected. Early Intervention, Part C of IDEA (Birth to three) does not need a diagnosis to start services for the child and the family. A parent can self refer or have the physician refer. Kids can be screened at no cost to the family. It was the best thing I ever did for my son.

  22. Jeff says:

    Pediatricians do not benefit financially from running any of those tests. Some people just need to have a conspiracy theory.

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