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Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. Conclusions: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

Background: Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive genetic disease with deafness and QT prolongation. Mutations in KCNQ1 and KCNE1 genes are a cause of JLNS. Our object...

Sensory deprivation, including hearing loss, can affect different aspects of a person's life. Studies on children with hearing impairment have shown that such patients, especially those with cochlear implants (CIs), suffer from cognitive impairments, such as working memory problems and poor language skills. The present study aimed to examine the efficacy of cognitive computer training in improving working memory and language skills in children with a CI. This research was a quasi-experimental study with a pre-test-post-test design and a control group. Fifty-one children with a CI aged 6-12 years were recruited through convenience sampling and randomly assigned to the control and treatment groups. The Wechsler Working Memory Subtest and the Test of Language Development (TOLD) were used to evaluate children's working memory and language skills pre- and post-treatment. The treatment group attended twenty 50-60-minute cognitive computer training sessions three times a week. Sina-Working Memory Training was used to provide the treatment group with working memory training, whereas no intervention was provided to the control group. Univariate and multivariate analyses of covariance were used to analyze data. The results demonstrated the efficacy of cognitive computer training in improving the performance of cochlear-implanted children's working memory (auditory and visual-spatial) (P0.01). The results also pointed to improved performance in sentence imitation (P0.01), word discrimination (P0.01), and phonemic analysis subtests (P0.01). Overall, the findings indicated that cognitive computer training might improve working memory and language skills for children with CI. Therefore, the development and execution of such programs for children with CIs seem to improve their cognitive functions, such as working memory and language skills.

In this preliminary study, we evaluated the predictive ability of Correlation Dimension (CD) and Nonlinear Interdependence (NI) for seizures in pediatric myoclonic epilepsy patients. Scalp EEG recordings of eight diagnosed cases of myoclonic epilepsy were analyzed using Receiver Operating Curve (ROC) for discriminating the preictal period from interictal period. Furthermore, based on clinical seizure characteristics and EEG data, the spatiotemporal patterns of measures in clinically relevant areas of the brain were compared with other areas for each patient. CD showed a dominant increasing behavior in both all of the individual channels and channels of clinical interest for 75% of patients. For NI, the dominant direction was also increasing in 62.5% of patients for all of the individual channels and in 75% of patients for channels of clinical interest. However, there was no consistent general behavior in the timing of the preictal change amongst patients and within individual patient. Nonlinear measures of CD and NI can differentiate the preictal phase from the corresponding interictal phase. However, due to high variability, patient-wise tuning of possible automated systems for seizure prediction is suggested. This is the first study to employ nonlinear analysis for seizure prediction in pediatric myoclonic epilepsy.

Epilepsy is a common brain disorder characterized by a persistent tendency to develop seizures in neurological, cognitive, and psychological contents. Magnetic Resonance Imaging (MRI ) is a neuroimaging test facilitating the detection of structural epileptogenic lesions. This study aimed to compare the MRI findings between patients with intractable and drug-responsive epilepsy.This case-control study was conducted from 2007 to 2019. The research population encompassed all 1-16-year-old patients with intractable epilepsy referred to the Shafa Neuroscience Center (n=72) (a case group) and drug-responsive patients referred to the pediatric neurology clinic of Baqiyatallah Hospital (a control group).There were 72 (23.5%) patients in the intractable epilepsy group and 200 (76.5%) patients in the drug-responsive group. The participants' mean age was 6.70± 4.13 years, and there were 126 males and 106 females in this study. Normal brain MRI was noticed in 21 (29.16%) patients in the case group and 184 (92.46%) patients in the control group.Neuronal migration disorder (NMD) was also exhibited in 7 (9.72%) patients in the case group and no patient in the control group. There were hippocampal abnormalities and focal lesions (mass, dysplasia, etc.) in 10 (13.88%) patients in the case group and only 1 (0.05%) patient in the control group.Gliosis and porencephalic cysts were presented in 3 (4.16%) patients in the case group and no patient in the control group. Cerebral and cerebellar atrophy was revealed in 8 (11.11%) patients in the case group and 4 (2.01%) patients in the control group. Corpus callosum agenesis, hydrocephalus, brain malacia, and developmental cyst were more frequent in the case group; however, the difference between the groups was not significant.The MRI findings such as hippocampal abnormalities, focal lesions (mass, dysplasia), NMD, porencephalic cysts, gliosis, and atrophy are significantly more frequent in children with intractable epilepsy than in those with drug-responsive epilepsy.

Hearing impairment is a common type of sensory loss in children. Studies indicate that children with hearing impairment are deficient in social, cognitive and communication skills. This study compared the intelligence quotients of first- and second-generation deaf children with cochlear implants. This research is causal-comparative. All 15 deaf children investigated had deaf parents and were selected from Baqiyatallah Cochlear Implant Center. The 15 children with cochlear implants were paired with similar children with hearing parents using purposive sampling. The findings show that the Hotelling trace of multivariate analysis of variance (F = 6.78, p < 0.01, ηP2 = 0.73) was significant. The tests of between-subjects effects for second-generation children was significantly higher than for first-generation children for all intelligence scales except knowledge. It can be assumed that second-generation children joined their family in the use of sign language as the primary experience before a cochlear implant. The use of sign language before cochlear implants is recommended.

Background: Regarding risk of bacterial meningitis (BM) after Cochlear implantation (CI), it was suggested to receive polyvalent conjugate vaccine. We aimed to estimate the prevalence of BM post CI in child recipients who do not receive polyvalent vaccine. Methods: We enrolled 371 children who had received cochlear implants from 2007 to 2010. None of them received pre or post implantation polyvalent conjugate vaccine for BM. We followed all of them for BM for 2 years after implantation. Results: We detected only one female case of BM (0.3% of patients) with the age of 24 months. The mean age of noninfected children was 36.7 ± 23.2 months. The education level of parents was "college level or higher" in less than half of them, and about 65% of patients were products of consanguineous marriage. Conclusions: Our findings indicated that the incidence of BM was not higher in our cochlear implanted children who did not receive immunization than patients from countries in which routine vaccination is done. We suggest that although proper immunization is recommended before surgery, this procedure could be performed without vaccination, especially in developing countries that face financial problems for preparing vaccines.

Background: Approximately 60% of term and 80% of premature infants are hospitalized for hyperbilirubinemia in the first week of life. Hyperbilirubinemia is the most common cause of infant hospitalization and readmission. Due to the high frequency of hyperbilirubinemia in infants and the high costs of treatment, it is necessary to find a way to decrease hospitalization duration. Objectives: The aim of this study is to assess the adjunctive effect of probiotics on decreasing hospitalization time for infants with hyperbilirubinemia. Methods: In this randomized, controlled clinical trial, 92 term infants with hyperbilirubinemia who met the inclusion criteria were randomly assigned to either the probiotic or control group. Patients in both groups underwent common phototherapy. Once a day, those in the probiotic group were also given half of a capsule of Prokid probiotic, while those in the control group received half of a placebo capsule. The duration of phototherapy and hospitalization, the blood groups of mothers and infants, and each patient’s bilirubin levels before and after phototherapy, direct Coombs test results, and levels of hemoglobin, G6PD, and reticulocytes were recorded. Results: Data from 92 patients with a mean age of 5.25 ± 2.35 days underwent analysis. The control group had 47 (51.1%) patients with a mean age of 5.19 ±2 .51 days and the probiotic group had 45 (48.9%) patients with a mean age of 5.31 ± 2.19 days (P = 0.81). The 92 patients had a mean bilirubin level of 16.70 ± 3.07 mg/dL, with a mean of 16.42 ± 3.53 mg/dL in the control group and 17.00 ± 2.49 mg/dL in the probiotic group (P = 0.37). The duration of hospitalization averaged 3.34 ± 0.70 days overall, with an average of 3.55 ± 0.74 days for the control group and 3.13 ± 0.70 days for the probiotic group. The probiotic group had a significantly lower hospitalization stay in comparison to the control group (P = 0.004). Conclusions: Our findings suggest that probiotics may be beneficial as an adjunct treatment for infants with hyperbilirubinemia by reducing the duration of hospitalization.

Background: It seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in Iran. Objectives: The aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among Iranian samples who are candidates for cochlear implantation. Methods: This study was retrospective, analytical, and designed to collect information about profound hearing impaired cases referred to the Baqiyatallah Cochlear implantation center using enumeration. A total of 310 children with profound hearing impairments participated in this study. They were aged from 6 months to 4 years old. The study was done between January 2007 and April 2009. Chi-square tests were used to show whether there was any statistical difference between the incidence of marital consanguinity of their parents and the normal population. Results: Sixty-five percent of those 310 children had parents who had married with their relatives. Of the 203 (65%) parents that had consanguineous marriages, 132 were first cousins, which includes the children of two brothers (37 [11.8%] patrilateral parallel cousins), the children of two sisters (38 [12.2%] multi-lateral parallel cousins), or the children of a brother and a sister (57 [18.3%] cross cousins). Fifty-four (17.4%) of the parents were second cousins and 17 (5.2%) were beyond second cousins. Also, hearing loss etiology was obvious in 237 (76.3%) of the patients with profound hearing loss but was unknown in 73 (23.7%). Hereditary was identified as the most common cause in 33% of the cases. Conclusions: Our data demonstrated a 65% occurrence of consanguineous marriage among the parents of deaf children, which is statistically different from the percentage of consanguineous marriage among Iranian population (38%). This indicates an obvious relationship between severe hearing loss and consanguineous marriage.

Hospitalized neonates usually undergo different painful procedures. This study sought to test the effects of a familiar auditory stimulus on the physiologic responses to pain of venipuncture among neonates in intensive care unit. The study design is quasi-experimental. The randomized clinical trial study was done on 60 full-term neonates admitted to the neonatal intensive care unit between March 20 to June 20, 2014. The neonates were conveniently selected and randomly allocated to the control and the experimental groups. Recorded maternal voice was played for the neonates in the experimental group from 10 minutes before to 10 minutes after venipuncture while the neonates in the control group received no sound therapy intervention. The participants' physiologic parameters were assessed 10 minutes before, during, and after venipuncture. At baseline, the study groups did not differ significantly regarding the intended physiologic parameters (P > .05). During venipuncture, maternal voice was effective in reducing the neonates' heart rate, respiratory rate, and diastolic blood pressure (P

Objective Long Term Video-EEG Monitoring (LTM) may give us important information in the preoperative assessment of these patients. We performed this study for the first time in pediatric age group in Iran. Materials and Methods In this cross-sectional study, 43 children between 4 to 18 yr, with intractable epilepsy referred to Shefa Neuroscience Research Center, Tehran, Iranfrom2007-2012, were enrolled to study in order to evaluate their long-term video EEG findings. Results The patients mean age was10.07 yr, from which 24(65.9%) were boys.Seven patients with definite epileptogenic zone were advised to perform lesionectomy surgery.In two patients, there was not any seizure onset focus but corpus callosotomy was advised to control their frequent falling.Eight cases were recommended to perform electrocorticography or invasive EEG monitoring and26 cases to adjust medical treatment. In three cases, there was not any electrical seizure activity during clinical attacks, so discontinuing anti-epileptic drugs were recommended fordiagnosis of conditions that mimic epilepsy. Conclusion It is necessary to perform LTM in patients with refractory epilepsy in order to determine their treatment strategy. If there is any doubt about pseudoseizureLTM can help to differentiate epilepsy from conditions that mimic epilepsy.

The quality of life (QOL) of children with epilepsy has been widely studied, and several problems related to cognition, behavior, social lives, and physical activity among these children have been reported. Family life and parental care are important aspects of the lives of these patients. The impact of parental education on the QOL of pediatric patients with epilepsy is an understudied topic, especially in developing countries. In this study, we investigated the QOL and general health (GH) of patients with epilepsy presenting at the pediatric neurology clinic at Baqiyatallah Hospital and a private clinic. The Quality of Life in Childhood Epilepsy (QOLCE) questionnaire, which is a 92-item epilepsy-specific questionnaire covering physical activity, well-being, cognition, behavior, social activity, overall QOL, and GH, was used for interviewing parents. A total of 106 patients (m=61, 57.5% and f=45, 42.5%) aged 5-17years (mean: 10.31±2.91) participated in the study. Overall, there was no significant difference between the QOL and GH results of male and female patients. However, the maternal education level had a significant impact on the overall QOL (high school: 3.02±0.85 vs. B.Sc.: 3.67±0.61, p

Objective In this study, repetitive Transcranial Magnetic Stimulation (rTMS) and its specific use for treating epilepsy were carefully scrutinized. Materials & Methods Target researches such as review articles, case reports, books and theses, which had to do with therapeutic method of rTMS were surveyed. It is worth mentioning that until the final stages, the search for records and documents related to rTMS went on and in the end, the collected data underwent a qualitative analysis. Results As the literature review suggests, TMS principally applies electromagnetic induction to generate an electric current inside the brain without physical contact. The therapeutic uses of rTMS are for a wide range of mental disorders, namely epilepsy, chronic pains, motor disorders and so on. Conclusion Despite safety concerns and possible side effects, many researchers subscribe to rTMS and see a bright future for it.

Background Developments in the use of central venous catheters have improved the treatment of critically ill newborns. Objectives The aim of this retrospective study was to evaluate the rate of catheter-related complications and associated risk factors in newborns. Patients and Methods This cross sectional study evaluated 60 infants with indications for central venous catheters who were selected by census from 2007 to 2014 in Baqiyatallah Hospital in Tehran, Iran. The catheters were Broviac numbers 14 - 16. Results Ultimately, 60 cases (17 males and 43 females) with a mean age of 26.25 ± 20.09 days (Min = 1 day and Max = 153 days) underwent analysis. The most common reasons for venous catheter placement (98.3%) were prolonged hospitalization and lack of peripheral vessels. The most common complication was catheter-related infection, which occurred in 20 patients (33.3%). Death occurred in 24 patients (40.0%), but only 3 deaths (5%) were due to complications from the central venous catheter. A significant relationship was evident between infection and catheterization duration (P = 0.02). Conclusions Most of the catheter-related deaths were due to severe sepsis and hemothorax, and a significant relationship was noted between infection and both the mortality rate and catheterization duration. A significant relationship was also evident between birth weight and infection rates.

Background Autoimmune hepatitis (AIH) is a form of chronic hepatitis with unclear causative factors and is characterized by immunological and auto-immunological manifestations. Several extrahepatic manifestations, such as other autoimmune disorders, are associated with AIH. AIH with dermatological conditions as the initial manifestation is rare. We report the case of AIH in which erythema nodosum (EN) was the first manifestation.

Introduction Multiple handicapped children and children with syndromes and conditions resulting additional disabilities such as cerebral palsy, global developmental delay and autistic spectrum disorder, are now not routinely precluded from receiving a cochlear implant. The primary focus of this study was to determine the effect of cochlear implants on the speech perception and intelligibility of deaf children with and without motor development delay. Method In a cohort study, we compared cochlear implant outcomes in two groups of deaf children with or without motor developmental delay (MDD). Among 262 children with pre-lingual profound hearing loss, 28 (10%) had a motor delay based on Gross Motor Function Classification (GMFC). Children with severe motor delays (classification scale levels 4 and 5) and cognitive delays were excluded. All children completed the Categories of Auditory Perception Scales (CAP) and Speech Intelligibility Rating (SIR) prior to surgery and 24 months after the device was activated. Result The mean age for the study population was 4.09 ± 1.86 years. In all 262 patients the mean CAP score after surgery (5.38 ± 0.043) had a marked difference in comparison with the mean score before surgery (0.482 ± 0.018) ( P = 0.001). The mean CAP score after surgery for MDD children was 5.03, and was 5.77 for normal motor development children (NMD). The mean SIR score after surgery for MDD children was 2.53, and was 2.66 for NMD children. The final results of CAP and SIR did not have significant difference between NMD children versus MDD children ( P > 0.05). Conclusion Regarding to the result, we concluded that children with hearing loss and concomitant MDD as an additional disabilities can benefit from cochlear implantation similar to those of NMD.

Background: Neonatal sepsis is a worldwide problem that presents a management challenge to care groups for neonates and infants. Early diagnosis and management can considerably decrease the risk of sepsis, and improve the outcome. Aim: The aim of the present study was to determine the incidence, causative pathogens, and the antibiotic sensitivity pattern for neonatal sepsis in Iran. Materials and Methods: A historical cohort study was conducted on 84 patients with neonatal sepsis who were admitted to the neonatal intensive care unit (NICU) wards of Baqiyatallah and Najmieh University hospitals in Tehran, between 2003 and 2006. Clinical, demographic and laboratory data was collected from medical records. Results: Among all the comprised neonates, 44 patients were diagnosed with early-onset sepsis, 23 cases with late-onset sepsis and others with nosocomial sepsis. The most common isolated pathogen in all groups was Enterobacter, and was responsible for 31.4%, 47.8% and 41.2% of the episodes of sepsis, according to the sepsis type mentioned above, respectively. Susceptibility of common sepsis related pathogens to imipenem and gentamycin gradually reduced over the years between 2003 and 2006. Total mortality and morbidity rates due to neonatal sepsis were estimated at 27.4% and 89.3%, respectively. Mortality following sepsis was found more in boys (Odds Ratio (OR)=4.897, Conifdence Interval (CI)=95%, P=0.031), and those with low birth weight (OR=4.406, CI: 95%, P=0.011). Higher sepsis related co-morbidity was found in neonates following cesarean delivery (OR=6.280, CI: 95%, P=0.025). Conclusion: It seems that the mortality rate in this study was lower than similar studies in Iran and other developing countries. This difference between the mortality rates of the centers in our study and others could be due to the high occurrence of Enterobacter infections in the latter and also high resistance of these pathogens to commonly used antibiotics such as β-lactams and aminoglycosides reported in other studies.

Background Vitamin D is a vital lipid-soluble vitamin in the body, helping the growth and development of bones. Vitamin D deficiency in children has several adverse effects. The most important preventative factor is determining the deficiency at an early stage and prescribing vitamin D-containing supplements. Objectives To investigate the vitamin D status of children younger and older than 2 years and determine the utility of prescribing vitamin D supplements. Patients and methods Three hundred healthy children who attended the pediatric clinic for routine assessments were enrolled in this study. Their parents were asked to complete a questionnaire, which included questions about demographics, nutrition, and supplements. Blood levels of vitamin D, calcium, and phosphorus were then measured. Results The final study consisted of 286 children, 140 males and 146 females, with a mean age of 4.46 ± 2.82 yr. Of these, 218 (76.22%) children, with a mean age of 5.09 ± 2.82 yr, had vitamin D deficiency, and 76 children (23.78%), with a mean age of 2.58 ± 1.88 yr, had normal vitamin D levels (P = 0.001). The mean level of vitamin D was 29.71 ± 14.42 ng/mL in 88 (30.8%) patients up to 2 years and 17.11 ± 14.02 ng/mL in 198 (69.2%) patients older than 2 years (P = 0.0001). Conclusions The vitamin D levels of children aged more than 2 years are lower than those of children aged less than 2 years. Thus, prescribing vitamin D-containing supplements in children older than 2 years may be beneficial.

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

Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in patients with ID. More recently, the Multiplex Ligation-dependent Probe Amplification (MLPA) method has been applied for detecting microdeletion/duplication in patients with dysmorphism and ID.A total of 100 patients with dysmorphism and ID have been referred to us since 2011. All patients were first evaluated clinically and a number of these individuals had normal karyotypes. We investigated duplications and deletions for 21 different microdeletion syndromes using MLPA kit (MRC-Holland).We were able to identify aberrations in 12 (12%) patients clinically ascertained as follows: 5 Williams syndromes, 3 Miller- Dieker syndromes, 1 Sotos syndrome, 1 Angelman Syndrome, 1 Di-George syndrome and one patient with an abnormal 4p chromosomal region.Our MLPA results indicate a high degree of concordance between the clinical data and the genotype. We suggest MLPA as the first screening method for children suffering from MR with normal karyotypes. In those cases where clinical findings were not compatible with the microdeletion syndrome identified by MLPA investigation, further studies such as FISH and aCGH were performed.

Cerebral palsy is the most common cause of spasticity and physical disability in children and spasticity is one of the commonest problems in those with neurological disease. The management of spasticity in children with cerebral palsy requires a multidisciplinary effort and should be started as early as possible. There are a number of treatments available for the management of spasticity. This article reviews the variety of options available for the clinical management of spasticity.

Dear Editor, Cochlear implantation (CI) is an effective procedure for treatment of children with severe to profound Sensori-neural hearing loss (SNHL). In spite of suitable outcome in many patients, choosing the candidates should be regarding to the child age and etiology (congenital or acquired SNHL) (1-4). Bacterial meningitis (BM) is one of the most common etiologies of acquired SNHL which estimated approximately 60 - 90% of all cases of secondary SNHL at children (5). Due to concomitant neurological sequelae such as seizure, visual impairment and hydrocephalus, the successful outcome of CI in these cases remained doubtful. We introduce a case series about outcome of cochlear implantation at children with SNHL due to BM as the preliminary report from Iran. Two hundred eighty-four children with hearing loss presenting to the cochlear implantation center of the Baqiyatallah Hospital between 2008 and 2010 were evaluated and finally, eight children with Post Meningitis deafness (PMD) were enrolled. Profound SNHL was confirmed based on the average of pre-implantation unaided pure-tone thresholds over 90 dB. There were complementary investigations for overruling other cause of SNHL. The Nucleus 22 channel device and a speech processors device was used, routinely although other option has been considered in special subjects. Each cases assessed by Nerve Response Telemetry (NRT) intra-operatively and 45 days after surgery. Speech Intelligibility Rating (SIR) and Categories of Auditory Perception scale (CAP) tests was conducted in the best-aided situation both before and after implantation.6 All cases were assessed at three, six, 12, and 24 months after CI. This investigation was approved by the ethical review board. The mean age of children at the meningitis diagnosis was 15.75 ± 6.77 (Mean ± SD) months and the mean age at cochlear implantation was 31.12 ± 1.27 months. Two patients was male (patients number 1&4). The microorganism cultured from the CSF was identified in 3 (37.5%) patients. In three patients (No. 1, 3&4) the causative microorganism was Streptococcus Pneumoniae (Pneumococcus) and in other subjects causative microorganisms were unknown. Electrode insertion in 6 out of eight patients was complete but two children required cochlear drill-out and in one child short electrodes was used. There was no serious complication after operation during 6 months follow up. The mean of NRT at the baseline, 3 and 6 months later was 69.37 ± 96.78, 187.37 ± 19.24 and 184.62 ± 17.32, respectively (Table 1). We used SPSS version 16 and repeated measured ANOVA test to compare the CAP and SIR findings. By using this test we were able to compare the CAP and SIR score between more than two stages (0, 3 and 6 month after implantation). Three months after CI, the mean score of CAP test developed from 0.62 ± 0.74 at the baseline to 3.00 ± 1.41 and also increased to 3.75 ± 1.16 at the 6-months after CI (P < 0.001). Also, SIR scored a mean of 1.25 ± 0.46 at the baseline improved to 1.37 ± 0.74 at 3 months after implantation (P = 0.351) and a mean of 2.25 ± 0.88 at 6 months later (P < 0.001) (Table 2). Previously, the CI success and efficacy in children with additional disability such as PMD compared to children with pure SNHL were debatable (6, 7). This supposition was because of having concomitant neurological squeal. The electrode may be inserted incompletely due to ossified cochlea (8), although, results of several previous studied were equivocal. Howard et al recommended that neurologic squeal of BM annoy the improvement of speech perception after CI in patients with PMD (9) El-Kashlan et al. showed children with cochlear ossification due to BM have significant lower speech perception improvement than a matched control children with congenital SNHL at both the 6 and 24-month follow-up after CI but with extended follow-up, some children with ossification had speech perception partially (10). Eshragi et al. revealed children with PMD and those with cochlear ossification who undergo CI may require frequent programming adjustments to obtain the optimal performance because levels of stimulation increase over the time (11). Partial insertion is more suitable and comfortable than complete insertion in ossified cochlea or labyrinth for surgeons (12). Age and causative microorganism are important factors to determinate the outcome in children with post meningitis deafness (13). Also, the role of time between PMD and implantation is arguable. Some survey recommended that CI should be performed after diagnosis of PMD as soon as possible and other suggested late approach (14).Young et al. showed that early bilateral simultaneous CI in children with PMD increases the likelihood of binaural hearing and ensures implantation of the better ear in this population of children whose course is often complicated by formation of scar tissue and ossification within the cochlea (15). Regarding to the results of present study and similar studied we conclude that children with post meningitis deafness could be Benefited from CI. However, Studies with larger sample size and a control group with longer follow-up period for confirming the prognostic factors are recommended. Table 1 Nerve Response Telemetry (NRT) Findings Table 2 CAP and SIR Score in Patient Before and After CI

This study aimed to compare the quality of life (QOL) of Mothers of Children with Cerebral Palsy (MCCPs) with mothers of Typically Developing (TD) children as a Control Group (CG). The association of the mediating variables including socio-economic status (SES), marital satisfaction and fatigue with maternal QOL was also evaluated.The MCCPs group consisted of 120 mothers (mean age: 30.3 ± 5.5 years) of children with CP. The CG included 100 mothers (mean age: 29.9 ± 4.5 years) of TD children. Demographic characteristics of the participants were recorded and the data was collected by World Health Organization Quality of Life-BREF (WHOQOL-BREF), SES Questionnaire, Index of Marital Satisfaction (IMS) and Fatigue Severity Scale-Persian (FSS-P). Data analysis was done by SPSS version 16.0.The QOL and SES were lower, while FSS-P and IMS were higher in MCCPs group than CG (p0.001). The SES, IMS and FSS-P associated with all domains of QOL in MCCPs group, while they did just with some domains of QOL in CG (p0.05).The lower QOL in MCCPs group is supposed to be mediated by the SES, marital satisfaction and fatigue so, maternal empowerment in terms of these mediators and family-centered approach are recommended.• Improper activity of trapezius muscle motor units can be a reason of the cervicogenic headache. • Increased muscle tension at rest can lead to decrease of its contractile properties. • Rehabilitation of patients is effective when includes first postisometric relaxation procedures and myofascial mobilization of trigger points, then head protraction and retraction exercises according to McKenzie therapy and finally muscles strengthening exercises supplemented with self-control of the correct body posture.

Waardenburg syndrome (WS) is an autosomal dominant disease, characterized by dystopia canthorum, hyperplasia of the eyebrows, heterochromia iridis, white forelock, and congenital sensori-neural hearing loss (SNHL). The aim of this study was to evaluate the outcome of cochlear implantation in children with WS and compare it with children with pure SNHL. In a prospective study we evaluated 336 cochlear implanted children from 2008 to 2010. The WS was diagnosed by its established criteria and for control group children without any dysmorphic features, anatomical, behavioral, and developmental disorders were also enrolled. We evaluated children of both groups 1 year after cochlear implantation by categories of auditory performance (CAP) and speech intelligibility rating (SIR) tests. Eighty-one children out of the total 336 who had SNHL were included in study. Out of these 75 (22.3%) were healthy and six (1.78%) had WS. Of the 75 healthy children 40 (53.3%) were girls, while of the six children with WS, three (50%) were girls. There was a significant difference in SIR between WS and cases with pure SNHL (2.67 ± 1.03 vs. 3.79 ± 1.11, p = 021) however, the difference was not significant in CAP (4 ± 1.26 vs. 5.13 ± 1.13, p = 0.082). Prevalence of WS was 1.78% at Baqiyatallah Cochlear Implant Center. One year after implantation there was no significant difference in auditory outcome; however, the difference in speech outcome was significant between WS and cases with pure SNHL.

Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. The objectives of the present study were to identify the most common organisms causing sepsis and their associations with thrombocytopenia.This is a retrospective case analysis of blood culture positive patients between March 2003 and July 2007 in a single centre. We enrolled 53 eligible neonates whose blood culture yielded positively for any organism. Blood for the culture was obtained from a peripheral vessel. The data was analysed for differences in platelet and neutrophil count in terms of the microorganisms causing sepsis using chi-square and Fisher's exact tests, analysis of variance and Kruskal-Wallis, as appropriate.The most common organism in the blood culture was Enterobacter spp. with 21 cases (39.6 percent) and the least common was coagulase-positive Staphylococcus spp. The most common organisms in infants with normal weight and early onset sepsis were coagulase-positive Staphylococcus spp. (50 percent and 36.7 percent, respectively), while in other neonates with low birth weight, very low birth weight and late onset sepsis, the most common organism was Enterobacter spp. (40.9 percent, 71.4 percent and 47.8 percent, respectively). The patients with Enterobacter spp. sepsis had a higher incidence of thrombocytopenia. The mortality rate was 15.1 percent (8/53 cases), which was significantly higher among those with the Enterobacter spp. sepsis (five cases, p-value is 0.033).Our study shows the changes in the pattern of late onset neonatal infections in the neonatal intensive care unit. Enterobacter spp. is the most common organism causing neonatal sepsis accompanying thrombocytopenia.

Ophthalmia neonatorum is a form of conjunctivitis occurring in infants younger than 4 weeks. It can be a leading cause of blindness in newborns. In this random clinical case-control study, ophthalmia neonatorum was investigated in one university centre. In this study, prophylactic effect of normal saline and ophthalmic erythromycin was compared with a group not receiving any prophylaxis. The first group received ophthalmic erythromycin ointment (0.5%), the second group were distilled one drop of normal saline into each eye, and the third group did not take any prophylaxis. Within the first10 days of life, conjunctivitis developed in 138 newborns (13.8%). Of conjunctivitis cases, 29.7% were in erythromycin group, 31.9% in normal saline group and 38.4% were in no-prophylaxis group. In general, no significant difference was observed among the three groups ( P > 0.05).

Introduction: Long QT syndrome (LQTS) is a repolarization cardiac disorder that can lead to syncope, cardiac arrest and sudden death in apparently healthy individuals. The congenital type can be accompanied with congenital sensory-neural deafness (Jervell-Lang-Nielsen syndrome). Although there are limited studies assessed the frequency of LQTS in these children in developed countries, regarding introducing the new formula, it is necessary to re-evaluate the frequency of this syndrome. Materials and Methods: This cross-sectional and descriptive study was done on 203 patients with congenital sensory-neural hearing loss (SNHL) that had cochlear implant surgery in Baqiyatallah cochlear implant center from 2008 to 2012. Corrected QT was calculated with this formula: QTC = QT + 1.75 (heart rate-60) Patients with QTC > 460 ms, were categorized in four groups: Long QT: QT > 460, Borderline: 440 470 and very markedly: >500. Also, cardiac arrhythmias or arrest were evaluated in patients during cochlear implant surgery and in the postoperative recovery period. Result: Prevalence of LQTS in patients was 12.32% (25 patients). Prevalence of markedly long QT and very markedly long QT were 8.87% (18 patients) and 2.46% (5 patients) respectively. The prevalence of borderline group was 14.29% (29 patients). None of the patients during or after surgery were affected by cardiac arrhythmias or arrest. Conclusion: This study showed higher prevalence of LQTS in patients with SNHL than the normal population, and we suggest that all patients with congenital deafness should be screen for LQTS.

Background: Stress caused by physical disorders of offspring, such as deafness, is the potential reason of depression and anxiety in their parents. This study assessed the prevalence of depression and anxiety in mothers of children with sensorineural hearing disorders. Materials and Methods: An analytical cross-sectional study was conducted on 59 mothers of children diagnosed with profound sensorineural deafness who were referred to Baqiyatallah university hospitals in 2009. Depression and anxiety were assessed by depression and anxiety questionnaire (Beck Second edition). Results: The mean ages of children and mothers were 18.31 ± 4.72 months and 29.42 ± 4.39 years, respectively. The prevalence of depression and anxiety were 39 out of 59 (66.10%) and 47 out of 59 (79.66%), respectively. Conclusion: Depression and anxiety in mothers of children with profound sensorineural hearing loss have a high incidence and psychological complications must be considered substantially in mothers of children with hearing disorders.

Background: There are many regional variations in the rate and predisposing factors of hearing loss and these could vary over time. The aim of this study was to describe the characteristics and possible etiology of severe to profound bilateral sensorineural hearing loss (SNHL) among Iranian children who were a candidate for cochlear implantation. Materials and Methods: We designed a cross-sectional study to evaluate children with profound SNHL referred to Baqiyatallah Cochlear Implantation Center from all over the country of Iran. Among 471 referred children, 310 cases with diagnosis of bilateral profound SNHL ranging in age from 6 months to 4 years between 2005 and 2011 were enrolled. Results: The mean (±standard deviation) age of individuals and the mean age of diagnosis was 3.50 ± 1.23 and 164 (53%) were male. Considerable risk factors for SNHL in 218 patients (70.3%) were obvious. A total of 103 (33%) children had one or more close relatives with deafness in their family, so they were considered to be hereditary deafness cases, followed by prematurity 32 (10.3%), syndromic etiology 25 (8%), maternal toxoplasmosis, rubella, cytomegalovirus, herpes infection 12 (3.9%), severe hyperbilirubinemia 9 (3%), eruptive infections 9 (3%), meningitis 8 (2.6%), asphyxia 6 (2%), and oto-toxic drug 6 (2%). Our data showed the prevalence of 65% consanguineous marriage among parents of deaf children. Conclusion: This is the first attempt to describe the risk factor of SNHL in Iran. Among the identifiable causes of severe to profound SNHL in Iranian population, the consanguineous marriage was the most common risk factor. Further analytical studies focusing on the relation between etiology and demographic factors were recommended.

Cochlear implantation (CI) is a new treatment for profound sensori-neural hearing loss. Children with syndromes and conditions resulting disabilities are now not routinely precluded for receiving CI. We present an 8-month-old girl with a brain migrational anomaly and profound hearing loss who underwent CI.

Objective This study aimed to investigate the effects of the Modified Adeli suit therapy (MAST) on improvement of gross motor function in children with cerebral palsy (CP). Methods Thirty-six children with CP assigned by match pairs to three equal groups such as the MAST, the AST, and the Neurodevelopmental Treatment. They were treated for 4 weeks, 2 hr/d, 5 d/wk. All children were tested by the Gross Motor Function Measure (GMFM) at baseline, immediately before and 16 weeks after treatments. Results All groups had improvement in the GMFM after treatment (p < .01) and there were significant differences among groups (p < .01). In the follow-up study, no significant improvement in the GMFM was seen within groups (p > .05), but again there were significant differences among groups (p < .01). Conclusion The MAST was more effective than using either the AST or the Neurodevelopmental treatment on improvement of gross motor function in children with CP after treatment and at follow-up.

"nLeukocyte 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.

Objective Since early detection (specially before 6 months of age) of deaf people leads to better hearing and speech outcome after treatment, several clinical trials have been performed in order to find a cost effective, short duration screening test for diagnosis of neonatal hearing impairment. The aim of this study was to assess the sensitivity and specificity of Transient Otoacustic Emission (TEOAE) test in newborns comparing with auditory brain stem response (ABR) in the age of 3 months and to analyze the association between risk factors and hearing loss in neonates. Methods A cross-sectional study was conducted January2008 - May 2009 in Tehran. 1000 newborns (526 boys and 474 girls) were assessed. First, all of neonates were evaluated by TEOAE 24h after birth. If responses of OAE were failing, they were retested 10 to 15 days after birth by TEOAE. Also, All Neonates were assessed by ABR in the age of 3 months. Descriptive Statistics was used to analyze data. Findings Eighteen out of 1000 neonates failed double–checked TEOAE tests, of which 6 were confirmed by ABR test (12 false positive results). Nine out of 1000 neonates had impaired ABR tests, from these patients, 6 had failed OAE as well, but 3 had normal OAE (3 false negative results). From these 9 patients 2 had profound hearing loss and received cochlear implantation. We found that OAE has 66.7% sensitivity and 98.8% specificity in diagnosis of neonatal hearing impairment. Its positive and negative predictive value was 33.3% and 99.7% respectively. Also we did not find statistically significant relationship between hearing loss and risk factors. Conclusion TEOAE as a simple, non-invasive, short duration and cost effective method, is a suitable test for neonatal hearing screening. Even though only two thirds of patients were detected by this method, 99.7% negative predictive value makes it a good screening test. We recommend OAE as a suitable primary neonatal hearing screening all over the country.

This study was undertaken to determine the predisposing factors for renal scarring in children with urinary tract infection. In this prospective cohort study, 176 children with documented urinary tract infection were categorized into four groups: ≤1 year old, 1-2 years old, 2-7 years and 7-14 years old. Ultrasonography and Technetium-99 m-DMSA scan were used to detect the possible abnormalities. Infants under 12 months old presented as the most common group for renal scarring (27 cases, 52.9%), and vesicoureteral reflux (VUR) was diagnosed in 29 cases (56.8%). Fifteen (41.67%) children between the ages of one and two years had renal scar, and VUR was detected in half of the patients. In the third group, 36.3%, and in fourth group, 41.6% of the patients had renal scar. Also, 38.6% in group three and 50% in the final group had VUR. A co-incidental finding that was observed in this study was the high incidence of pseudohypoaldesteronism (PHA) in our patients: in 39.2% of the children in group one, 22.2% in group two and 4% in group three. In group four however, none of the patients had PHA. Risk of scar formation with urinary tract infection (UTI) was higher in the younger age group and in those with recurrent UTIs.

Background: Congenital hypothyroidism (CHT) is one of the most common congenital endocrinal disorders. The prevalence of CHT is estimated about 1 in 3,000 newborns. The prevalence, etiology and associated disorders of abnormal thyroid screening tests are reported in different ranges. In this study, we assessed the pre-term newborns for CHT and associated factors that influence thyroid function. Methods: One hundred newborns with the gestational age fewer than 35 weeks were investigated. Baseline serum thyroid stimulating hormone (TSH) and free thyroxin (FT4) levels were measured during the first 5 days of life and were repeated during the first 5 weeks. We analyzed the effects of demographic factors and the presence of respiratory distress syndrome on the alteration of thyroid function tests during the first 5 weeks of life. Results: The mean gestational age (GA) at delivery was 32.35΁1.97 (range 28 to 35) weeks. CHT was observed in 13(13%) preterm infants. GA was the only factor which affect the FT4 changes over the two weeks follow-up (P < 0.001, b: -2.783, Power: 70.2%) although the differences between baseline and follow-up amount of TSH were not significantly influenced by GA (P = 0.062, power: 46%). However, the adjusted TSH and FT4 serum level changes during follow-up were significantly different between two groups (between CHT and normal, P = 0.006, 0.000, respectively). Conclusions: It seems that thyroid function tests should be repeated in preterm infants, especially for patients with lower gestational age, to confirm the diagnosis of CHT. Also, CHT should be considered among the newborns that are affected by RDS.