Specific genetic disorders and autism: clinical contribution towards their identification.

[cohen syndrome]

Autism is a heterogeneous disorder that can reveal a specific genetic disease . This paper describes several genetic diseases consistently associated with autism (fragile X , tuberous sclerosis , Angelman syndrome , duplication of 15 q 11 -q 13 , Down syndrome , San Filippo syndrome , MECP 2 related disorders , phenylketonuria , Smith-Magenis syndrome , 22 q 13 deletion , adenylosuccinate lyase deficiency , Cohen syndrome , and Smith-Lemli-Opitz syndrome ) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them . A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies . Regarding psychiatric nosography , the concept of "syndromal autism "--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation .

Diseases
Validation

Diseases presenting "autism" symptom

22q11.2 deletion syndrome

achondroplasia

aniridia

canavan disease

cohen syndrome

cowden syndrome

gm1 gangliosidosis

kabuki syndrome

krabbe disease

lymphangioleiomyomatosis

proteus syndrome

wolf-hirschhorn syndrome

This symptom has already been validated