FW: Analysis: etiologic yield in autism, dd, etc.

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Note: This is from another list.

[abmd] etiologic yield in autism, dd, etc.

Some of you may recognize the first abstract below from yesterday's feat

newsletter. These authors conclude that metabolic studies [beyond looking

for fragile X] or neuroimaging on a screening basis is not justified for

young children with autistic spectrum disorder. I'm appalled by this

conclusion.... yet another validation of the " no need to look for medical

answers " for our children beyond the asd label. In order to get a real

sense

of the validity of their conclusion, it's instructive to look at 2

additional

abstracts published by this group.

In the GI study below, these researchers determine that " social support can

have a favorable impact on psychological distress and, ultimately, can

improve health outcomes in patients with IBD. " These findings are based, in

part, on patient report of perceived stress changes. Abrahamowicz et al

report that " a statistically significant interaction term (p = 0.0171)

revealed that the relationship between psychological distress and perceived

stress changes depend[ed] on the level of satisfaction with social support. "

Well, I'm underwhelmed.

The second report is more illuminating. Here we learn that " etiologic yield

varied across childhood developmental delay subtypes, and was 44/80 for

global developmental delay [GDD] (55%), 13/22 for motor delay [MD] (59.1%),

3/72 for developmental language disorders [DLD] (4.2%), and 1/50 for

autistic

spectrum disorders [ASD] (2%). For GDD, the presence of historical features

or findings on physical examination was associated with greater likelihood

for successful etiologic determination with the following items significant

in multiple logistic regression analysis; microcephaly, antenatal toxin

exposure, focal findings. "

Have we no " history " in autism? Have these authors ruled out the

possibility

of antenatal toxin exposure in autism? One possible conclusion is that the

autism sample chosen for this study was rigorously chosen; participants

deemed " autistic spectrum disordered " were not also developmentally delayed

or language disordered (hmm?). How else can they provide separate etiologic

yields for each population? Strange to me, then, that they recommend

screening for the Fragile X genotype in autism but against additional

metabolic screening. Fragile X syndrome is one of the most common forms of

inherited mental retardation. It is caused by the expansion of the CGG

trinucleotide repeats in the FMR-1 gene... hence the sole marginally

proactive recommendation here that the FMR-1 karyotype be examined.

So, that's it... yet another half baked research effort that threatens to

limit medical assessment and intervention for individuals diagnosed as

autistic. Every one of your asd children deserve a full metabolic

screening

(can we please move beyond Fragile X?) and at least one neuroimaging

assessment in childhood. Keep demanding it!

Also leaves me wondering whether more of us shouldn't demand higher

standards

of reporting " the facts " on feat. Where is the valid biomedical research in

autism?

LeGendre

J Child Neurol 2001 Jul;16(7):509-12

Etiologic yield of autistic spectrum disorders: a prospective study.

Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M.

Department of Neurology/Neurosurgery, McGill University, Montreal, PQ.

michael.shevell@...

At present, the etiologic yield in community-derived samples of young

children with an autistic spectrum disorder is not known. To address this

question, all young children (under 5 years of age) referred for an initial

assessment to ambulatory pediatric neurology or developmental pediatric

clinics at a tertiary university center over an 18-month period for a

suspected developmental delay were prospectively identified. Specific

diagnostic testing was left to the discretion of the evaluating physician.

In

all, 50 children with an autistic spectrum disorder were assessed. Detailed

history or physical examination was informative with respect to suggesting

the possibility of an underlying etiology in a minority (10/50,20%). Genetic

studies (FMR-1, karyotype), electroencephalography (EEG), and neuroimaging

were carried out in a majority (42/50, 34/50, and 33/50, respectively) of

the

children, for the most part on a screening rather than an indicated basis

(31/42, 34/34, and 28/33, respectively). Etiologic yield was low (1/50, 2%),

with only a single child identified with a possible Landau-Kleffner variant

on sleep EEG tracing. The results suggest an evaluation paradigm with

reference to etiologic determination for young children with autistic

spectrum disorder that does not presently justify metabolic or neuroimaging

on a screening basis. Recurrence risk and treatment implications, however,

suggest that strong consideration be given to genetic (FMR-1, karyotype)

testing and EEG study despite a relatively low yield.

Brain Dev 2001 Jul;23(4):228-35

Etiologic determination of childhood developmental delay.

Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M.

Department of Neurology/Neurosurgery, McGill University, Quebec, Montreal,

Canada

To determine the etiologic yield in young children with developmental delay

referred to sub-specialty clinics for evaluation. Over an 18-month period,

all children less than 5 years of age referred to the ambulatory pediatric

neurology or developmental pediatrics clinics of the Montreal Children's

Hospital for initial evaluation of a suspected developmental delay were

enrolled. Features evident on history or physical examination were

determined

at intake as were the laboratory tests (and their rationale) requested by

the

evaluating physicians. Six months post initial assessment, detailed chart

review was undertaken to determine if an etiology was found and the basis

for

such a determination. Bivariate and multivariate logistic regression was

used

to test for associations between factors present at intake and successful

ascertainment of an underlying etiology. Two hundred and twenty-four

children

met study criteria. Etiologic yield varied across childhood developmental

delay subtypes, and was 44/80 for global developmental delay [GDD] (55%),

13/22 for motor delay [MD] (59.1%), 3/72 for developmental language

disorders

[DLD] (4.2%), and 1/50 for autistic spectrum disorders [ASD] (2%). For GDD,

the presence of historical features or findings on physical examination was

associated with greater likelihood for successful etiologic determination

with the following items significant in multiple logistic regression

analysis; microcephaly, antenatal toxin exposure, focal findings. For MD,

physical findings or the co-existence of a cerebral palsy symptom complex

predicted a successful search for etiology. For both groups, the severity of

the delay did not predict etiologic yield. For both groups, a small number

of

etiologic categories accounted for the majority of diagnoses made. Etiologic

yield in childhood developmental delay is largely dependent on the specific

developmental delay subtype. Paradigms for systematic evaluation of this

common child health problem can be suggested, however they await validation.

Am J Gastroenterol 2001 May;96(5):1470-9

Psychological distress, social support, and disease activity in patients

with

inflammatory bowel disease.

Sewitch MJ, Abrahamowicz M, Bitton A, Daly D, Wild GE, Cohen A, Katz S,

Szego

PL, Dobkin PL. Department of Epidemiology, McGill University, Montreal,

Quebec, Canada.

OBJECTIVES: The objectives of this study were to compare the psychological

status of patients in active and inactive disease states, to assess social

support, and to identify correlates of psychological distress in patients

with inflammatory bowel disease (IBD). METHODS: This cross-sectional study

was conducted in 200 patients (mean age 36.7 yr [sD = 14.8], 119 [59.5%]

female) with long-standing IBD who were seen in tertiary care. Psychosocial

assessments included psychological distress (Symptom Checklist-90R), social

support (Social Support Questionnaire-6), perceived stress (Perceived Stress

Scale-10), and recent minor stressful events (Weekly Stress Inventory).

Disease activity was assessed with the Harvey Bradshaw Index. RESULTS:

Patients reported higher levels of satisfaction with social support and

smaller network sizes compared with normative values. Using multiple linear

regression, the independent correlates of psychological distress (p =

0.0001;

adjusted R2 = 0.62) were as follows: active disease (p = 0.0234), less time

since diagnosis (p = 0.0012), and greater number (p = 0.0001) and impact of

stressful events (p = 0.0003). A statistically significant interaction term

(p = 0.0171) revealed that the relationship between psychological distress

and perceived stress changes depending on the level of satisfaction with

social support. For patients with low levels of perceived stress,

satisfaction with social support did not affect levels of psychological

distress. However, for patients who experienced moderate to high levels of

perceived stress, high satisfaction with social support decreased the level

of psychological distress. CONCLUSIONS: These findings suggest that

strategies aimed at improving social support can have a favorable impact on

psychological distress and, ultimately, can improve health outcomes in

patients with IBD.