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


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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    • "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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    ABSTRACT: A variety of genetic disorders of known etiology present with behavioral profiles similar to that described in autism spectrum disorders (ASDs). Although some of these disorders are more likely to be associated with a comorbid ASD diagnosis, there exist cases in which there is a lack of empirical evidence to support a dual diagnosis. Two disorders, Williams syndrome (WS) and 15q13.3 deletion syndrome, have both been reported in the literature as examples of this phenotypic overlap. We present a case study of a young child with both WS and 15q13.3 deletion syndrome and significant ASD-related symptomatology. The results of a developmental evaluation, specifically the rationale for ruling out a comorbid ASD, are the focus of the present report. Implications for careful diagnostic consideration in cases of patients with known genetic conditions are also discussed.
    Journal of Developmental and Physical Disabilities 02/2015; 27(1). DOI:10.1007/s10882-014-9404-2 · 1.56 Impact Factor
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    • "Il semblerait que les différences entre le QI verbal et le QI performance diminuent lorsque le langage est préservé. D'autre part, il est important de noter que la présence de comorbidité est la règle dans le groupe TSA avec déficience intellectuelle (par exemple l'épilepsie [33]) confinant parfois à un tableau d'autisme syndromique [34]. Plusieurs déficits cognitifs spécifiques ont été associés aux TSA. "
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    ABSTRACT: La dystrophie myotonique de type 1 (DM 1) est une maladie neuromusculaire pouvant s’accompagner de troubles cognitifs et psychiatriques. Les études explorant ces aspects dans la forme infantile de la DM1 sont encore récentes et les données disponibles mettent en avant des résultats contradictoires, notamment en ce qui concerne la présence ou non de troubles du spectre autistique (TSA) dans cette population. La question d’une comorbidité entre la forme infantile de la DM1 et les TSA s’appuiera sur une revue de la littérature organisée selon deux axes : (1) une synthèse des travaux objectivant, d’une part, les troubles psychiatriques et cognitifs observés dans la DM1 mais aussi une analyse critique des études où la présence d’un TSA a été explorée dans cette même population et (2) une comparaison entre les profils cognitifs et le fonctionnement cérébral (données neuro-anatomiques et/ou neuro-fonctionnelles) de chacune de ces deux pathologies. La reconnaissance des signes cognitifs et psychiatriques spécifiques de la forme infanto-juvénile de la DM1, qu’ils comprennent ou non une dimension autistique propre, devrait constituer une étape fondamentale pour mieux guider les professionnels et améliorer la prise en charge.
    Neuropsychiatrie de l Enfance et de l Adolescence 12/2014; 63(2). DOI:10.1016/j.neurenf.2014.11.005
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    • "In regard to genetic risk for ASD, the majority of research has consistently shown that ASDs have a strong genetic component with heritability rates ranging from 60 to 80% (24, 25) and close to 40% in the largest recent twin study (26). Therefore, there is little doubt of the importance of genetic factors in autism (27–29). However, most authors agree that the number of ASD cases explained by a single genetic abnormality is limited to approximately 15–20%. "
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    ABSTRACT: Background: There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD. Methods: Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France). Results: The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10−4]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10−12). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism. Conclusion: Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed.
    Frontiers in Pediatrics 04/2014; 2:32. DOI:10.3389/fped.2014.00032
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