Article

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris.
Journal of Autism and Developmental Disorders (Impact Factor: 3.34). 03/2005; 35(1):103-16. DOI: 10.1007/s10803-004-1038-2
Source: PubMed

ABSTRACT

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 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 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.

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    • "c o m / l o c a t e / y n b d i clear, it is often difficult to determine whether the mechanism of ASD is due to the seizures or the underlying cause of the seizures. For example, ASD is common in children with tuberous sclerosis complex who have ELS (Bolton et al., 2002; Wiznitzer, 2004; Cohen et al., 2005). It is not known whether ASD is due to the consequences of an impaired mammalian target of rapamycin (mTOR) signaling pathway, the seizures themselves or both (Wiznitzer, 2004; Wang and Doering, 2013; Lugo et al., 2014a). "
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    • "Examples of such disorders include (but are not limited to) Down, Fragile X, Angelman, and Smith-Magenis syndrome, as well as Tuberous Sclerosis complex (see Cohen et al. 2005 for a review). However, many of these reports are limited by the typical issues in genetics research, as well as the lack of the use of empirically supported diagnostic instruments. "
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