Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1

Aim Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long‐term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention‐deficit–hyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited. Method We present a retrospective, cross‐sectional study of the prevalence of symptoms of ASD and ADHD and their relationship in a consecutive series of 66 patients from our NF1 clinic. The Social Responsiveness Scale and the Vanderbilt ADHD Diagnostic Parent Rating Scale were used to assess symptoms of ASD and ADHD. Results Sixty‐six participants (42 males, 24 females) were included in this study. Mean age at assessment was 10 years 11 months (SD 5y 4mo). Forty percent of our NF1 sample had raised symptom levels reaching clinical significance on the Social Responsiveness Scale (T ≥ 60), and 14% reached levels consistent with those seen in children with ASDs (T ≥ 75). These raised levels were not explained by NF1 disease severity or externalizing/internalizing behavioral disorders. There was a statistically significant relationship between symptoms of ADHD and ASD (χ²=9.11, df=1, p=0.003, φ=0.56). Particularly salient were the relationships between attention and hyperactivity deficits, with impairments in social awareness and social motivation. Interpretation We found that symptoms of ASD in our NF1 population were raised, consistent with previous reports. Further characterization of the specific ASD symptoms and their impact on daily function is fundamental to the development and implementation of effective interventions in this population, which will probably include a combination of medical and behavioral approaches.     

The Asymptomatic Patient with the Wolff-Parkinson-White Electrocardiogram

Sudden death can be the first manifestation of the Wolff-Parkinson-White (WPW) syndrome. The underlying mechanism being atrial fibrillation with a very high ventricular rate, because of a short anterograde refractory period of the accessory atrioventricular pathway (AP), deteriorating into ventricular fibrillation. Information on the anterograde refractory period of the AP is therefore important to recognize asymptomatic people with the WPW ECG at risk for dying suddenly. Several noninvasive tests are available to identify the low risk patient. Decision making when to interrupt the AP in asymptomatic WPW patients not at low risk requires an invasive study to document the electrophysiological properties of the AP and to determine its exact location.     

Low Body Mass Index Is Associated with a Positive Response during a Head‐Up Tilt Test

Background : To describe the association between body mass index (BMI) and a positive response during a head‐up tilt test (HUT) in patients referred for an investigation of syncope. Methods : Observational study of patients referred for the diagnostic evaluation of syncope. Patients were divided into four groups according to their BMI: <18.5 kg/m², 18.5–24.9 kg/m², 25–29.9 kg/m², and > 30 kg/m². Results : A total of 419 patients were evaluated. The mean age was 43 ± 22 years, and 62% were female. The prevalence of a positive tilt test was different between groups when stratified by BMI (P = 0.01), with a higher proportion of patients with positive tests among those with BMI <18.5 kg/m² compared with other groups (P = 0.05). Multivariate analysis also showed that underweight patients had a 3.9 times higher risk for a positive HUT response (P = 0.01); additionally, the use of contraceptive drugs was associated with a protective effect during HUT (odds ratio: 0.35, confidence interval:0.19–0.45, P = 0.001). Conclusion : In our sample, changes in BMI are associated with a positive response for HUT, and oral contraceptives seemed to protect against this response. Further studies are needed with larger numbers of patients to corroborate this finding. (PACE 2013; 36:37–41)     

The Role of Amniotic Fluid Analysis

Amniocentesis is a practical tool in daily obstetrics. The rapid and relatively safe procedure can enhance the clinician's judgement in important decisions concerning the fetal maturity, Rh iso-immunization, and genetic counseling and, to a lesser degree, in placenta localization and diagnoses of fetal well-being and congenital abnormalities. The indications and technique for amniotic fluid analysis me presented, and possible complications are discussed.