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The aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases. [ABSTRACT FROM AUTHOR]

Observations made with lamotrigine add-on therapy with venlafaxine in this case give clues for some aspects of its use in adolescent-onset bipolar II disorder. An 18-year-old adolescent boy with a 3-year history of bipolar II disorder had experienced 2 episodes of hypomania and 4 episodes of major depression. He had been depressed for the last 3 months and had taken olanzapine 5 mg daily for over 6 weeks as mood stabilizer but was still depressed at referral. Other aspects of the patient history included anhedonia, psychomotor retardation, poor concentration, a feeling of hopelessness, hypersomnia, overeating, weight gain, low energy and a refusal to attend school. Parents reported that his symptoms had recently become more severe. His medicine was replaced by venlafaxine, which has a more rapid onset of action and is often used in bipolar depression, especially in patients with atypical depression. Since the clinical response at 6 weeks was only partial, lamotrigine was added to this regimen. The patient responded to lamotrigine after 3 weeks of treatment while on a dose of 50 mg/day. After 6 weeks of treatment, whilst on a dose of 75 mg/day, his symptoms remitted completely with no evidence of any adverse effects. At the time of publication of this article, the patient had remained euthymic for a total of 8 months. The present report shows that lamotrigine add-on therapy with venlafaxine facilitated clinical remission and that this combination is well tolerated. [ABSTRACT FROM AUTHOR]