1. Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjolberg S, Skjeldal OH. {{Children with autism spectrum disorders – The importance of medical investigations}}. {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}. 2012 Sep 3.
BACKGROUND: Considerable knowledge about medical comorbidity in cases of Autism Spectrum Disorders (ASD) is available, still it is not well established how extensive the medical investigations should be in individual cases. The aim is to explore proportions of possible specific medical conditions in ASD. METHODS: 79 subjects went through extensive medical evaluations according to pre-defined procedures, including medical and developmental history, physical and biomedical investigations. RESULTS: Clinical neurological findings were quite common, and we found a high number of pathological findings in the additional medical investigations. Our study revealed that these pathological deviations occurred more frequently in patients with childhood autism than in the other diagnostic sub-groups, the exception were chromosomal findings which occurred more often in patients not-diagnosed with childhood autism. CONCLUSION: Medical and laboratory investigations should still be performed as a consequence of the patient’s history, clinical presentations or family history. We should basically continue the use of non-routine and invasive procedures which do not put the patient at some unnecessary risk, in the absence of relevant clinical indications.
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2. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. {{Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy}}. {Science (New York, NY)}. 2012 Sep 6.
Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is responsible for phosphorylation-mediated inactivation of the E1-alpha subunit of branched chain ketoacid dehydrogenase (BCKDH). Patients with homozygous BCKDK mutations display reductions in BCKDK mRNA and protein, E1-alpha phosphorylation, and plasma branched chain amino acids. Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation. Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.
