Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, some null NOTCH3 variants with homozygous inheritance cause neurological symptoms distinct from CADASIL. The aim of this study was to expand the clinical spectrum of this distinct condition and provide further evidence of its autosomal recessive inheritance. METHODS AND RESULTS: Whole exome sequencing (WES) was performed on a proband who exhibited livedo racemosa, ataxia, cognitive decline, seizures, and MRI white matter abnormalities without anterior temporal pole lesions. Segregation analysis was conducted with Sanger sequencing. WES of the proband identified a novel homozygous NOTCH3 null variant (c.2984delC). The consanguineous parents were confirmed as heterozygous variant carriers. In addition, three heterozygous NOTCH3 null variants were reported as incidental findings in three unrelated cases analyzed in our center. CONCLUSION: The findings of this study suggest an autosomal recessive inheritance pattern in this early-onset leukoencephalopathy, in contrast to CADASIL's dominant gain-of-function mechanism; which is a clear example of genotype-phenotype correlation. Comprehensive genetic analysis provides valuable insights into disease mechanisms and facilitates diagnosis and family planning for NOTCH3-associated neurological disorders.

Fulminant coronavirus disease 2019 meningitis in Iranian infants: a case series.

BACKGROUND: Pediatric coronavirus disease 2019 infection usually presents with respiratory and gastrointestinal symptoms. In this report we present fulminant meningitis as the main presentation of coronavirus disease 2019 without major signs and symptoms of other organs' involvement in 3 infants. CASES: The first case was a 4 months Iranian male infant with fulminant meningitis as the main presentation of coronavirus disease 2019 without other organ involvement. He was treated as suspected bacterial meningitis but CSF PCR and CSF culture were negative for common meningeal pathogens. On 3rd day, his coronavirus disease 2019 PCR test became positive, while it was negative on 1st day. The second case was a 13 months Iranian male infant with fever, irritability, and photophobia for 24 h before poorly controlled status epilepticus. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. Seizures were controlled with multiple anti-seizure medications. The third case was a 14 months Iranian female infant with fever and seizure1 hour before admission, leading to poorly controlled status epilepticus despite anti-epileptic therapy 10 h after admission. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. He was controlled with multiple anti-seizure medications. CONCLUSION: Meningitis of coronavirus disease 2019 should be considered in severely ill pediatric cases with poorly controlled seizures and RBC in CSF smear. Also, pediatricians can consider corticosteroids, remdesivir, and IVIG therapy in these cases.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

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.

Computerized cognitive training for improving cochlear-implanted children's working memory and language skills.

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) (P < 0.01). The results also pointed to improved performance in sentence imitation (P < 0.01), word discrimination (P < 0.01), and phonemic analysis subtests (P < 0.01). 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.

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, accompanied by epilepsy, intractable seizures, and sometimes sensorineural hearing loss. To the best of our knowledge, 47 cases have been reported. The present study reports five patients from four different families affected by SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness, and lower motor neuron disease, as proven by electrodiagnostic studies. Genetic analysis identified two different mutations in the ASAH1 (NM_177924.4) gene, a previously reported pathogenic variant, c.125C>T (p.Thr42Met), and a novel likely pathogenic variant c.109C>A (p.Pro37Thr). In addition to reporting a novel pathogenic variant in the ASAH1 gene causing SMA-PME disease, this study compares the signs, phenotypic, and genetic findings of the case series with previous reports and discusses some symptomatic treatments.

Magnetic resonance imaging findings in children with intractable epilepsy compared to children with medical responsive epilepsy.

Objective: 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. Material & Methods: 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). Results: 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. Conclusion: 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.

Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.

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 objective was to perform mutational analysis of the KCNQ1 and KCNE1 genes to determine the frequency of mutations in the Iranian population. Material and methods: Fourteen patients and their families were investigated. Mutational screening of the KCNQ1 and KCNE1 genes was performed by a polymerase chain reaction (PCR) followed by direct Sanger sequencing. Results: We identified two frameshift mutations in the KCNQ1 gene, including a novel mutation, c.1356 1356delG, and a known mutation, c.1534_1534delG. A common single nucleotide polymorphism (SNP), c.112G > A, was also found in KCNE1 in seven probands. Conclusion: A novel mutation in the KCNQ1 gene is described. There may be less frequency of mutations in the KCNQ1 and of KCNE1 genes in Iranian JLNS patients compared with other populations.

Long-term Video-EEG Monitoring Findings in Children and Adolescents with Intractable Epilepsy.

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.

Assessment of Toxoplasma Seropositivity in Children Suffering from Anxiety Disorders.

OBJECTIVE: This study aimed to assess the seroprevalence of Toxoplasma gondii in children with anxiety disorders. MATERIALS & METHODS: This cross-sectional study was conducted between Sep 2012 and May 2013 in Pediatrics Clinic of Baqiyatallah Hospital, Tehran, Iran. Children were assessed clinically. Diagnosis of patients with anxiety disorders was based on DSM-4 system, performed by child psychiatrist. Then their anti-Toxoplasma antibodies were measured. A questionnaire was verbally administered to all individuals' parents including demographic information and questions about life style, family history, medical history, economic situation, residence, nutritional patterns and contact with animals. RESULTS: Ninety-six male and female cases with a mean age of 8.56±2.5 and 8.42±1.9 yr underwent analysis. Anti- T. gondii IgG antibody was found in one case of each group. There was no significant difference between case and control groups for serum Toxoplasma IgG antibody (P=0.14). No case individuals had Anti- T. gondii IgM antibody, while it was found in one control individual. No significant difference was seen between case and control groups for Toxoplasma IgM antibody (P=0.27). CONCLUSION: Toxoplasmosis has no direct effect on the incidence of anxiety disorders. More studies are needed with a larger volume of individuals in future.

Neurobrucellosis Presenting with Unilateral Abducens Nerve Palsy.

One of the rare complications of brucellosis is neurobrucellosis. There have been numerous reports showing clinical forms of brucellosis affecting CNS, such as cranial nerve involvement, myelitis, vascular disease, radiculoneuritis, meningitis, meningoencephalitis, and demyelinating disease. In this case report, we introduce a 2.5 yr old girl with unilateral abducens nerve palsy referred to Baghiyatallah Hospital Outpatient Clinic, Tehran, Iran in June 2015.

Analysis of variations of correlation dimension and nonlinear interdependence for the prediction of pediatric myoclonic seizures - A preliminary study.

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.

The effectiveness of familiar auditory stimulus on hospitalized neonates' physiologic responses to procedural pain.

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 < .05). Maternal voice is effective in reducing some physiologic parameters during and after performing the painful procedure of venipuncture. Nurses are recommended to use familiar sounds to effectively manage neonates' physiologic responses to procedural pain of venipuncture.

Comparison of the Vitamin D Status of Children Younger and Older Than 2 Years in Tehran: Are Supplements Really Necessary?

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.

Effects of parental gender and level of education on the quality of life and general health of pediatric patients with epilepsy: An outpatient cross-sectional survey.

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<0.05) and GH (high school: 2.81±0.79 vs. B.Sc.: 3.8±0.94, p<0.05) of male patients, while paternal education had no significant effect. A multiple linear regression showed that the maternal education level had an independently significant association with the physical activity of the patients (p=0.02, CI: 1.4-6.25), and the paternal education level had an independently significant association with the well-being of the patients (p=0.02, CI: 0.43-5.36). In addition, the maternal education level (high school vs. B.Sc.) had a significant effect on physical activity, well-being, cognition, and behavior for all of the patients (p<0.05), while the paternal education level (high school vs. B.Sc.) had no significant impact. However, in a comparison of high school vs. higher education, paternal education had a significant effect on patients' physical activity and well-being (p<0.05). We conclude that parental levels of education play a significant role in various aspects of the lives and GH of children with epilepsy. Maternal education, in particular, plays a significant role in GH and the overall QOL of male patients. Further research is suggested to identify the socioeconomic and cultural factors responsible for these findings.

History, Studies and Specific Uses of Repetitive Transcranial Magnetic Stimulation (rTMS) in Treating Epilepsy.

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.

Consanguinity Among Parents of Iranian Deaf Children.

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.

Sleep Problems Under-Reported by Parents in Iranian Children.

Sleep problems are common in childhood, but there are limited studies regarding that in Iranian children and awareness of the sleep problems and their complication in Iranian parents. We arranged this study in which parents of children attending for a sick visit or routine growth control to assess whether sleep problems are under-reported at general pediatric visits. In a cross-sectional study from April 2010 to April 2011 in 301 children aged 2-14 years old attending to pediatric clinics were enrolled. To investigate the general orientation of parents about their child sleep problem we asked them a global question at first regarding sleep of their child. After that, the Persian version of BEARS questionnaire was completed by them. Only 30 (9.9%) parents reported sleep problems in their children in response to primary global question but by collecting the data from BEARS questionnaire it was revealed 45.18% (136/301) of children had one or more of sleep disorders at all. As mentioned 136 (45.18%) children had slept problems of which the most frequent complaint (15.28%) was related to bedtime problems. The second complaint (11.96%) was awakening during the night children. A significant association between sleep problems and child gender was not found. Co-sleeping with parents was found in 55.48% of all children in this study. Despite the high prevalence and adverse effects of sleep disorders, the present study suggests that parents underreport sleep problems at consultation. We suggest children should be assessed for sleep disorders in monitoring and health screening visits.

Bacterial Meningitis after Cochlear Implantation among Children without Polyvalent Conjugate Vaccine: A Brief Report of an Iranian Cohort Study on 371 Cases.

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.

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.

BACKGROUND: 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. METHODS: 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). RESULTS: 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. CONCLUSION: 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.

Prevalence of epileptiform discharges in children with sensori-neural hearing loss and behavioral problems compared to their normal hearing peers.

OBJECTIVE: Overactivity and behavioral problems are common problems in children with prelingually profound sensorineural hearing loss (SNHL). Data on epileptiform electroencephalography (EEG) discharges in deaf children with psychological disorders are so limited. The primary focus of this study was to determine the prevalence of epileptiform discharges (EDs) in children with SNHL and overactivity or behavioral problems. MATERIALS & METHODS: A total of 262 patients with prelingually profound SNHL who were referred to our cochlear implantation center between 2008 and 2010 were enrolled in this study. Children with SNHL who had diagnosis of overactivity and/or behavioral problems by a pediatric psychiatrist, underwent electroencephalography (EEG). EEG analysis was carried out by a board-certified pediatric neurologist. The control group consisted of 45 cases with overactivity or behavioral problems and normal hearing. RESULTS: One hundred thirty-eight children with mean age of 3.5±1.23 year were enrolled in the case group, of whom 88 cases (63.7%) were boy. The control group consisted of 45 cases with mean age of 3.2±1.53 years, of whom 30 (66.6%) cases were male. EDs were detected in 28 (20.02%) children of the case group (with SNHL) in comparison with 4 (8.88%) in the control group (without SNHL), which was statistically significantly different. CONCLUSION: In this study, we obtained higher frequency of EDs in deaf children with overactivity and/or behavioral problem compared to the children without SNHL. Further studies are required to evaluate the possible association of SNHL with EDs in overactive children.