Pubmed du 24/03/09

mercredi 25 mars 2009

1. Antonietta MM, Tjitske K, Eleni K, Tiziana PF, Monika C, Rolph P, Francesca A, Ilaria M, Francesca M, Alessandra R. 14q12 microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet ;2009 (Mar 18)

Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1,is discussed.

2. Brosnan M, Turner-Cobb J, Munro-Naan Z, Jessop D. Absence of a normal Cortisol Awakening Response (CAR) in adolescent males with Asperger Syndrome (AS). Psychoneuroendocrinology ;2009 (Mar 20)

In addition to abnormalities in social and communication development, a ’need for sameness’ and ’resistance to change’ are features of autistic spectrum disorders first identified by Kanner in 1943. Our ability to react to change is modulated by the hypothalamic-pituitary-adrenal (HPA) axis, a feature of which is a dramatic increase in cortisol upon waking, the Cortisol Awakening Response (CAR). This study examined whether the CAR was evident in 20 adolescent males with Asperger Syndrome (AS) and 18 age-matched typically developing (TD) controls (aged 11-16). Whilst a significant CAR was evidenced in the TD control group, this was not the case for those with AS. A normal diurnal decrease in cortisol, however, was evident in both groups. The implication that individuals with AS may have an impaired response to change in their environment due to a refractory HPA axis is discussed.

3. Cantor RM. Molecular genetics of autism. Curr Psychiatry Rep ;2009 (Apr) ;11(2):137-142.

The increasing autism incidence estimates are generating strong interest in identifying its salient risk factors. Recognition of the importance of genes in this and other disorders has promulgated the development of valuable research tools. As this review indicates, application of these tools paints a portrait of a disorder that is more complex than anticipated.

4. Jackman C, Horn ND, Molleston JP, Sokol DK. Gene associated with seizures, autism, and hepatomegaly in an amish girl. Pediatr Neurol ;2009 (Apr) ;40(4):310-313.

A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children. These children were found to have focal seizures and autistic regression. Surgical biopsy of the anterior temporal lobe of two such children revealed cortical dysplasia and a single nucleotide polymorphism mutation of this gene. The present case is that of a related but geographically distant proband with a similar phenotype but a single-base-pair deletion in the CNTNAP2 gene. This patient exhibited the additional features of periventricular leukomalacia and hepatomegaly.


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