Brainstem Auditory Evoked Potentials in Boys with Autism: Still Searching for the Hidden Truth

How to Cite This Article: Ververi A, Vargiami E, V Papadopoulou V, Tryfonas D, Zafeiriou DI. Brainstem Auditory Evoked Potentials inBoys with Autism: Still Searching for the Hidden Truth. Iran J Child Neurol. Spring 2015;9(2):21-28.Abstract Objective Brainstem auditory evoked potentials (BAEPs) have long been utilized in the investigation of auditory modulation and, more specifically, auditory brainstem functions in individuals with autism. Although most investigators have reported significant abnormalities, no single BAEPs pattern has yet been identified. The present study further delineates the BAEPs deficits among subjects with autism. Materials & Methods BAEPs were recorded in 43 male patients, aged 35–104 months, who underwent standard evaluations after receiving a diagnosis of autism. The control group consisted of 43 age-matched typically developing boys. The study took place in a tertiary neurodevelopmental center over a period of two years. Results The mean values of all absolute and/or interpeak latencies were longer in patients when compared to controls, albeit the differences were not significant for any of the parameters. Prolonged or shortened absolute/interpeak latencies (control group mean ± 2.5SD) were unilaterally or bilaterally identified in 33% of patients, compared to 9% of controls. The most frequent findings included prolongation of absolute latencies I, V and III, followed by shortening of interpeak latency I-V. In addition, abnormalities (either shortening or prolongation) of absolute latencies I and V, as well as interpeak latency I-V, were significantly more common among patients. Taken together, BAEPs in 23% of patients were indicative of a clinically abnormal response in 32% of patients. Conclusion As can be easily concluded, BAEPs abnormalities characterize only a subset of subjects with autism, who may be important to identify clinically. The latter individuals may benefit from targeted intervention to utilize brainstem plasticity

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS

Arterial input function and gray matter cerebral blood volume measurements in children

Purpose To investigate how arterial input functions (AIFs) vary with age in children and compare the use of individual and population AIFs for calculating gray matter CBV values. Quantitative measures of cerebral blood volume (CBV) using dynamic susceptibility contrast (DSC) magnetic resonance imaging (MRI) require measurement of an AIF. AIFs are affected by numerous factors including patient age. Few data presenting AIFs in the pediatric population exists. Materials and Methods Twenty‐two previously treated pediatric brain tumor patients (mean age, 6.3 years; range, 2.0–15.3 years) underwent DSC‐MRI scans on a 3T MRI scanner over 36 visits. AIFs were measured in the middle cerebral artery. A functional form of an adult population AIF was fitted to each AIF to obtain parameters reflecting AIF shape. The relationship between parameters and age was assessed. Correlations between gray matter CBV values calculated using the resulting population and individual patient AIFs were explored. Results There was a large variation in individual patient AIFs but correlations between AIF shape and age were observed. The center (r = 0.596, P < 0.001) and width of the first‐pass peak (r = 0.441, P = 0.007) were found to correlate significantly with age. Intrapatient coefficients of variation were significantly lower than interpatient values for all parameters (P < 0.001). Differences in CBV values calculated with an overall population and age‐specific population AIF compared to those calculated with individual AIFs were 31.3% and 31.0%, respectively. Conclusion Parameters describing AIF shape correlate with patient age in line with expected changes in cardiac output. In pediatric DSC‐MRI studies individual patient AIFs are recommended

THE DOCTOR-PATIENT RELATIONSHIP

Abstract The relationship between the doctor and the patient is a particular type of human relation. On one hand, the word «patient» states that a person is at a disadvantage, because of his/her illness, and therefore is automatically at a disadvantageous position compared to the doctor. On the other hand, the patient has the opportunity to inform him/herself from online sources, to communicate with other patients, to participate as equal and to choose consciously his/her treatment plan. There are many different types of patients depending on their personality and interaction with their doctor. These types constituted a research field in the 80’s which lead to the analysis of patients’ psychology. After an historical flashback, patients are put in categories according to their reaction to their illness. In addition, the verbal way of approaching patients by their doctor, the patients’ expectations and their encouragement by professionals to participate more actively concerning their health care is underlined. As a result, this is the beginning of a new era, where the patient has requirements concerning both the medical and the human aspect of the doctor-patient relationship

Association between iron deficiency and febrile seizures

ObjectiveThe relationship between iron status and febrile seizures has been examined in various settings, mainly in the Developing World, with conflicting results. The aim of this study was to investigate any association between iron deficiency and febrile seizures (FS) in European children aged 6–60 months.DesignProspective, case–control study.SettingGreek population in Thessaloniki.Patients50 patients with febrile seizures (cases) and 50 controls (children presenting with fever, without seizures).InterventionsNone.Main outcome measuresHaematologic parameters (haemoglobin concentration, haematocrit, mean corpuscular volume, red cell distribution width), plasma iron, total iron-binding capacity, plasma ferritin, transferrin saturation and soluble transferrin receptors were compared in cases and controls.ResultsPlasma ferritin was lower (median [range]: 42.8 (3–285.7) vs 58.3 (21.4–195.3 ng/ml; p = 0.02) and Total Iron Binding Capacity (TIBC) higher (mean [Standard Deviation] 267 [58.9] vs 243 [58.45] ?g/dl, p = 0.04) in cases than in controls. Results were similar for 12 complex FS cases (ferritin 30 (3–121 vs 89 (41.8–141.5 ng/lL; TIBC 292.92 [68.0] vs 232.08 [36.27] ?g/dL). Iron deficiency, defined as ferritin &lt;30 ng/ml, was more frequent in cases (24%) than controls (4%; p = 0.004). Ferritin was lower and TIBC higher in 18 with previous seizures than in 32 with a first seizure although haemoglobin and mean cell haemoglobin concentration were higher.ConclusionsEuropean children with febrile seizures have lower Ferritin than those with fever alone, and iron deficiency, but not anaemia, is associated with recurrence. Iron status screening should be considered as routine for children presenting with or at high risk for febrile seizures

Tyrosine hydroxylase deficiency with severe clinical course.

Contains fulltext : 81047.pdf (publisher's version ) (Closed access)Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p15.5. Its clinical expression varies with presentations as dopa-responsive dystonia (recessive Segawa's disease), dopa-responsive infantile parkinsonism, dopa-responsive spastic paraplegia, progressive infantile encephalopathy or dopa-non-responsive dystonia. We describe a 7-year-old boy with progressive infantile encephalopathy and non-responsiveness to dopamine. The patient demonstrated generalized hypotonia, pyramidal tract dysfunction and temperature instability after the second month of life. Dystonia, tremor and oculogyric crises complicated the clinical picture during the following months. Neurotransmitter analysis in CSF disclosed almost undetectable levels of HVA and MHPG, whereas serum prolactin was profoundly increased. Subsequent molecular analysis revealed homozygosity for a missense mutation (c.707T>C) in the TH gene. l-Dopa therapy in both high and low doses resulted in massive hyperkinesias, while substitution with selegiline exerted only a mild beneficial effect. Today, at the age of 7 years, the patient demonstrates severe developmental retardation with marked trunkal hypotonia, hypokinesia and occasionally dystonic and/or hyperkinetic crises. He is the third Greek patient with TH deficiency to be reported. Since all three patients carry the same pathogenetic mutation, a founder effect is suspected