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Introduction: Recently, treatment of children with severe-to-profound sensorineural hearing loss (SNHL) has been influenced by diagnostic improvements and technological treatment advances, specifically new cochlear implant prospects. Multiple handicaps children and children with syndromes and conditions resulting disabilities, such as dual sensory loss, cerebral palsy, somatic abnormalities, and autistic spectrum disorder, are now not routinely precluded from receiving a cochlear implant. The primary aim of this study was to determine the effects of dysmorphic feature on cochlear implant outcome. Materials and Methods: In this cohort study, we evaluated 336 cochlear implanted children from 2007 to 2009. The case group consists of 53 patients (15/7%) with dysmorphic features and control group consisted at 53 patients with normal features and without behavioral and developmental disorders. All patients received auditory and speech rehabilitation and we evaluated their speech and auditory outcome. One year after cochlear implantation, the patient was assessed by categories of auditory perception (CAP) and speech intelligibility rating (SIR) tests. Results: We included 106 out of 336 cochlear implanted children, with the mean age of 30.42 ± 12.16 (maximum 48 months), 52 cases (49.1%) were girls and 54 (50.9%) were boys. There was a significant difference in SIR between case and control groups (3.26 ± 0.98) versus (4.06 ± 0.94) (P < 0.001), and a significant difference in CAP (4.09 ± 1.26) versus (5.43 ± 1.23) as well (P < 0.001). Conclusion: In this study, the prevalence of dysmorphic feature in children with severe-to-profound SNHL is 15.7%. One year after cochlear implant SIR and categories of auditory perception in these patients are significantly lower than children without dysmorphic feature, but cochlear implant will help these children. [ABSTRACT FROM AUTHOR]

Background: Hearing impairment (HI) is one of the most common congenital disorders in neonates and is considered as a severe and obscure handicap. The best early diagnostic method for HI in newborns is universal newborn hearing screening (UNHS). This method has been implemented since a few years ago in Iran. In this study, we introduced the findings of hearing screening in a hospital in Tehran (Iran). Methods: This cross-sectional study was conducted on all newborns (n = 3818) in Najmieh Hospital (Tehran, Iran) during 2006-07. Newborns were screened using the Transient-Evoked Otoacoustic Emission (TEOAE) test at the first 48 hours after birth. The results were documented as "pass" (desirable) or "refer" (undesirable). Neonates with undesirable results were re-screened during the next 2-4 weeks. If the responses in both sessions (test and retest) were not desirable, the infants were referred for a final diagnosis with Auditory Brainstem Response (ABR) test before three months of age. They were then referred to an otolaryngologist for more evaluations. Findings: From 3818 neonates screened, 90% had a pass response and 10% were referred for retest at 2-4 months of age. Of those who were referred, only 11 (3.6%) infants had an undesirable response again. Among these, nine infants referred for ABR and only 3 subjects showed sensory-neural hearing loss as the final diagnosis. One of them did not have any risk factors of HI. Conclusion: In order to minimize false negative and positive results, suspected cases are suggested to be reevaluated during the 2nd to 4th weeks after birth. In addition, high risk infants should be tested by ABR. Since one third of the children with HI in this study did not have any risk factors for HI, we recommend careful hearing screening for all neonates even those without any risk factors. [ABSTRACT FROM AUTHOR]

Epilepsy is an important disease with a cumulative incidence of 3% all over the life and more than half of them are started from childhood. In this study we surveyed magnetic resonance imaging (MRI) findings in epileptic children and its relation with clinical and demographic findings in order to find better diagnostic and treatment modalities for these children in the future. In this cross sectional study, we investigated consecutively all 1 to 15-year-old epileptic children who referred to the pediatric neurology outpatient clinic from 2004 to 2010. Two hundred children were enrolled for investigation. There were 85 (42.5%) girls and 115 (57.7%) boys, aged 1 to 15-year-old (7.7±4). 196 (98%) of the children had abnormal electroencephalography (EEG). Abnormal MRI was seen in 57 (28.5%) patients and consisted of brain atrophy (10%), increasing white matter signal intensity in T2-weighted images (8%), benign cysts (5%), brain tumors (4%) and vascular abnormalities (1.5%). Abnormal MRI findings had significant relation with abnormal EEG, age, positive family history for epilepsy, dysmorphic appearance, and abnormal physical exam. Considering 98% EEG abnormalities in these epileptic children, benign nature of MRI findings in most of our cases, the high price of MRI and the small minority of patients who benefit from active intervention as a result of MRI, we suggest to use EEG for confirmation of epilepsy and perform MRI for patient with abnormal physical exams, focal neurologic deficits or focal EEG abnormalities. [ABSTRACT FROM AUTHOR]

In this study, we investigated the changes of the serum levels of thyroid hormones including Thyroxine (T4), Triiodothyronine (T3), T3 resin uptake and Thyroid stimulating hormone (TSH) in epileptic children during treatment with anti-epileptic drugs (AEDs) including carbamazepine (CBZ), primidone (PRM), phenobarbital and valproic acid (VPA). Materials and Methods This study consisted of four case-series comparisons, was conducted on 115 epileptic children (37 girls and 78 boys with an age range between 2 months and 15 years, mean: 62.06 ± 44.97 months). These children were divided into 4 groups who took either phenobarbital (n=29), PRM (n=28), CBZ (n=29), or VPA (n=29) for 3 months. Thyroid hormone levels (T3, T3 resin uptake, T4 and TSH) were measured at the beginning and three months after starting the study. Results At first, all patients were euthyroid and there were no clinical or laboratory findings suggestive of hypothyroidism. Regarding thyroid hormones before and after the administration of phenobarbital, carbamazepine, valproic acid and primidone, there were no significant changes in serum T3, T4, T3 resin uptake and TSH levels. Conclusion Our findings showed that short term therapy with phenobarbital, carbamazepine, valproic acid and primidone had no effect on thyroid function tests. [ABSTRACT FROM AUTHOR]

Leukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2). In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.