how do you know if the ados diagnosis is correct

Katherine - posted on 11/30/2010

Global Developmental Delay Evaluation: Evidence-based Approach



Definitions:



1. Significant Developmental Delay?3 2 SD’s below the mean performance in any one category on Denver Developmental Scale

2. Global Developmental Delay?significant delay (by at least 2 SD’s) in 3 2 developmental categories (gross/fine Motor, Speech, Cognition, Social/Personal, activities of daily living)

3. The term "GDD" is usually reserved for children less than 5 yo; the term Mental Retardation is applied to older children, when MR severity is quantifiable with IQ testing





Hope this helps!!!



Introduction:



Developmental disabilities are relatively common in children, with 5-10% prevalence. GDD is estimated to be prevalent in 1-3% children < 5 yo. There are many possible causes for the clinical picture of GDD and some causes are treatable. Therefore, early recognition and diagnosis is important. In addition, some of the etiologies are genetically transmitted and may affect future family members..



Differential Diagnosis



1. Chromosomal



1. Down syndrome(trisomy 21)

2. Fragile X syndrome(FMR1 gene, CGG triplet repeat expansion): arguably the most common cause of male GDD/MR, but female sibs may also be affected; typical phenotype includes MR, prominent ears, shyness, poor eye contact

3. Rett syndrome( MECP2 gene mutation): arguably the most common cause of female GDD/MR; typical history includes normal development up to 6-18 mo, then gradual loss of speech and purposeful hand use, deceleration of head growth/microcephaly, seizures, ataxia, autistic behavior, stereotypic hand movements.



1. Metabolic



1. Hypothyroidism?usually picked up on neonatal screen

2. Glycogen storage diseases



3. Neurologic diseases (e.g. cerebral palsy, epilepsy)



4. Environmental deprivation



5. Language and Autistic spectrum disorders

6. Vision and hearing sensory impairments



***Lead exposure does NOT cause GDD although it may cause some cognitive deficits



Stepwise Diagnostic approach: (see summary flowchart below)



1. History is very important! Find out: pattern of development, any loss of milestones/decompensation, family history of MR, history of miscarriages in mother, consanguinity in family

2. Physical exam?look for dismorphic features, organomegaly, abnormal tone, autistic features in behavior



a. 7 specific findings on history and exam increase diagnostic yield for Fragile X testing significantly;

these findings 1. family hx of mental retardation



1. long jaw or high forehead

2. large or protuberant ears

3. hyperextensible joints

4. soft palmar skin

5. large testes

6. initial shyness followed by extreme verbosity



1. Do NOT order metabolic screen routinely, obtain records of neonatal metabolic screen instead (amino and organic acids, thyroid function tests), especially if history is positive for loss of milestones, consanguinity in family

2. Do NOT order Lead level routinely, instead screen children with risk factors for lead exposure (low SES, housing built before 1950, developmentally delayed with oral affinity, children whose parents are exposed)

3. Do NOT order EEG routinely but only if suspect epilepsy

























4. Cytogenetic testing and karyotype to check for Down, Rett, Fragile X syndromes

5. FISH/microsatellite array tests to detect subtelomeric chromosomal rearrangements.

6. Imaging?MRI is better than CT in detecting cerebral malformations

7. Auditory and Ophthalmologic screening?should be ROUTINE for GDD children as they are more likely to have deficits than healthy kids, and these sensory deficits are likely to confound the picture of GDD

8. Autism/language disorder screening



***Summary Chart from American Academy of Neurology Practice parameter (1)



Also see this link: http://www.neurology.org/content/60/3/36...

Sheila - posted on 11/27/2010

Hi Trudie,

When my son went through the testing, two people administered it (speech and language paths) They videotaped it. They scored independent of each of other...so without knowing what the other indicated, they came up with their score. Then the videotape was sent to our developmental pediatrician. She scored it....then our developmental ped sent the videotape to another dev. ped. Again, another score. All four, independent of each other, had to reach the diagnosis of autism. All four scored with very, very little difference...all four noted the same concerns....so, he was essentially evaluated four times by four professionals. So, following this criteria, and knowing what I know (not just as his mom, but as a teacher who had taught in the special ed. program) I had faith in the way the ados was administered and how he was diagnosed.

Sheila