OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.

Introduction: Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report: The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers' diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion: Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Knowledge, perspectives and attitudes about allergen-specific immunotherapy for respiratory allergic disease among paediatricians in Turkey.

BACKGROUND: Allergen-specific immunotherapy (ASI) is the only effective treatment for allergic respiratory diseases which has the potential to change the natural course of the disease. In this present study we aimed to evaluate the paediatricians' knowledge, perspectives and attitudes about ASI for allergic respiratory diseases. MATERIALS AND METHODS: The study was conducted between September 2014 - January 2015. A survey of 25 questions assessing paediatricians' knowledge, perceptions and attitudes about ASI was developed by an expert panel and applied by physicians in hospitals in Izmir, Turkey, where the paediatricians work. Data were recorded in SPSS for Windows v.16. Descriptive statistics, chi square analysis was used. P<0.05 was considered as significant. RESULTS: Fully completed surveys from 180 paediatricians were analysed. The respondent paediatricians had an age of 37±8.2 years, and 56 of them were male. The majority of the respondents (n: 146) were working fewer than five years as a paediatric specialist. 93.9% of the paediatricians believed that ASI was effective for the treatment of allergic respiratory diseases. There was satisfactory knowledge of the characteristics, aims, effects and limits of ASI. CONCLUSION: ASI is generally well-known and accepted among paediatricians. A better synergy between paediatricians and paediatric allergy specialists can provide more use of this treatment method for allergic respiratory diseases in childhood.