Iranian Journal of Pediatrics
Volume:20 Issue: 2, 2010

This is an overview of stereotypic behavior in autistic spectrum disorder (ASD). This repetitive, nonfunctional, fixed pattern of behavior is associated with autism severity but it is not specific for ASD. There are a wide range of behaviors mentioned as stereotypies. It usually starts in early childhood and its severity is associated with outcomes and severity of autism in adolescence and adulthood. It is usually co-morbid with other psychiatric problems and its pathophyisiology is not exactly known. Management is most likely behavioral. There are some reports regarding efficacy of antipsychotics for its management. Further studies should be conducted to improve our knowledge about it and our ability to differentiate it from tics.

We estimated pubertal development of 7,493 normal Iranian girls aged 6 to 20 years in a cross-sectional study. Pubertal stages were assessed according to Tanner. The mean ages to achieve secondary sexual characteristics as well as the mean age at menarche were estimated. Weight and height were measured and body mass index (BMI) was calculated. Reference curves for different breast stages and menarche were constructed. The percentiles for attaining each stage were compared to data proposed by Tanner. The mean age at breast bud stage (B2) was 10.10, pubic hair stage (P2) was 9.83, and menarche age was 12.55 years. The anthropometric variables were interpreted in different maturity stages. The mean age at attainment of puberty was compared with those of other populations. Not only the onset of puberty in Iranian girls but also the duration of puberty is similar to data from most other countries. A lower age limit for the definition of precocious puberty than the traditional 8 years is documented for Iranian girls. However, it should be noted that considering the rate of evolution of pubertal findings is more important than the age of their appearance.

This study was conducted to determine the serum level of folic acid and vitamin B12 in neural tube defects pregnancies (NTD) and healthy controls in Northern Iran. This case-control study was performed on women with neural tube defects pregnancies and controls with unaffected pregnancies in Northern Iran during 2006. Twenty three pregnant women whose pregnancies were diagnosed as NTD by a second-trimester ultrasonographic examination were recruited as cases. The control group (n=23) consisted of women who were selected among socio-economic status (SES) matched women who had a normal targeted ultrasound during the second trimester with documented normal fet al outcome. Fetal NTD was suspected with targeted second-trimester ultrasound during the 16th week of gestation and confirmed with high maternal serum α-fetoprotein levels. Folate, vitamin B12, homocysteine and alpha fetoprotein were evaluated after target ultrasonography. Serum alpha fetoprotein level (mean ± SD) in cases and controls was 120.2±64.1 and 50±33.5 iu/ml, respectively (P<0.05). The mean ± SD folate in cases and controls was 8.4±4.2 versus 9.3±4.2 ng/ml, respectively. This difference was not significant. Folate deficiency was found in 30.4% of the cases and 13% of the controls (OR = 2.9, 95%: 0.54-19.8). Vitamin B12 deficiency was found in 13 % of cases and 17.7% of the controls (OR=0.7, 95%: 0.1-4.9). This study showed that the probability of having a newborn with NTDs in maternal folate deficiency is three times higher than with normal folate in Northern Iran.

Bruxism is defined as the habitual nonfunctional forceful contact between occlusal tooth surfaces. The aim of this study was to determine the prevalence of bruxism and correlated factors in children referred to dental schools of Tehran، based on parents'' report. This cross-sectional descriptive study was conducted on 600 4-12 year-old children with a mean age of 7. 4±2. 4 years، who were referred to four dental schools in Tehran. After collecting information with questionnaire filled out by parents، χ2، Fisher Test، Mann-Whitney and t-Test were used to analyze the data. The prevalence of bruxism was 26. 2%. Bruxism begun in average at the age of 4. 9±2 years. Also it occurred 2. 6 times more in children who had a family history of bruxism (father-mother)، compared to children who didn''t have such a history. 87% of children with bruxism had a history of distressing events in their life، and 13% of children with bruxism did not report any history of distressing events in their life. In this study most common oral habit was nail biting. In study of parasomnias، drooling was the most، and snoring the least reported sleep disorder. Bruxism in children with drooling was twice more than in other children. The prevalence of bruxism in children with temporomandibular disorder was 63. 6% and in children without TMD was 24. 7%. Based on parents'' report، 26. 2% of children showed bruxism and there was a significant relation between bruxism and mother''s job، family history، distressing event in life، parasomnias، especially drooling and sleep walking، TMD، hyperactivity، depression، acrophobia and lygophobia.

Pregnancy is a physiological condition that its concurrence with fasting introduces some controversies about condition of mother and fetus. This study was conducted to evaluate the effect of fasting on pregnancy outcome. The historical cohort paradigm of this study was conducted on referrals of one of the Tehran''s hospitals in 2004. All pregnant women at one of the trimesters in holy month of Ramadan were included in the study. The women were divided into non-fasting، 1-10 days fasting، 11-20 days fasting، and 21-30 days fasting. For statistical analysis of data، covariance analysis and SPSS package was used. In this study، 189 cases were evaluated and their mean age، weight، and body mass index (BMI) were 25. 9 years، 61. 7 kg، and 23. 9 kg/m2 respectively. The mean for number of days on fasting was 13 days and 66 cases (34. 9%) had not been on fasting. In addition، there was no significant difference between BMI at the beginning of pregnancy، mother''s age، number of pregnancies، and a history of abortion in different groups. Meanwhile، there was also no significant difference between means of weight، height، and head circumference of infants with number of days on fasting. Furthermore، there was no significant difference between pregnancy outcome parameters and fasting at different trimesters. According to these findings، in healthy women with appropriate nutrition، Islamic fasting has no inappropriate effect on intrauterine growth and birth-time indices. Meanwhile، relative risk of low weight birth was 1. 5 times in mothers on fasting at first trimester as compared to non-fasting mothers.

Post-tonsillectomy hemorrhage remains an important factor in determining the safety of performing tonsillectomy as a day case procedure. The aim of this study was to determine the safety of day case tonsillectomy by using combination method, cold dissection tonsillectomy and bipolar diathermy hemostasis. A prospective randomized clinical study conducted on the patients who had undergone day case tonsillectomy (DCT). There were two groups (DCT and control group) each group consisting of 150 cases. Tonsillectomy was performed by using combination method; cold dissection and hemostasis was achieved by ligation of vessels with bipolar electerocautery. We found 3 cases of post-tonsillectomy bleeding in DCT group and 4 cases in the control group. There was no statistically significant difference in the rate of post-operative hemorrhage between the two groups. The findings suggest the safety of the combination of cold dissection tonsillectomy and bipolar diathermy hemostasis as day case tonsillectomy.

Parents of epileptic children are willing to know if specific foods precipitate or aggravate their kids'' seizures. Nonetheless conclusive data are limited. Alternative medicine has become a popular approach to many diseases in the world and there are limited data about this approach to epilepsy in Iran. We tried to evaluate attitude of parents of epileptic children to food-epilepsy relationship and alternative therapeutic approach to epilepsy. We carried out a cross-sectional study with analytic aspect at Children''s Medical Center, Tehran, Iran in 2008, by asking the parents of epileptic children to fill out a valid and excellently reliable questionnaire. We collected parents` attitude and analyzed it using SPSS software. One-hundred and fifty one families participated in the study. Fifty-nine of participants (39.1%) believed that foods had no effect on epilepsy. Fifty one cases (33.8%) said that foods might have negative or positive effect on epilepsy and 27.1% (41 cases) had no idea. Higher percent of parents believed in food-epilepsy relation in cases that fathers had educational levels above high school graduation. Sixteen cases (10.6%) said that alternative medicine might improve epilepsy and 55% had no idea about efficacy of this approach to epilepsy. Compared with previous published study from Iran, parents of epileptic children believed less in food-epilepsy relation. Majority of parents either believed that foods had no effect on epilepsy or had no idea. More than half of parents had no idea about efficacy of alternative medicine to epilepsy. Only a few of them believed in ameliorating effects of alternative medicine on epilepsy.

Idiopathic Nephrotic syndrome (INS) is the most common form of nephrotic syndrome (NS) in children with the potential of progression to end stage renal disease (ESRD). INS is steroid-responsive in most children, but not all patients respond to it. The aim of this study was to determine the rate of steroid responsiveness in children with INS that referred to Children''s Medical Center since 1995 to 2007. In as a cross sectional study, the medical records of all children with INS aged 1 to 15 years who were referred to our referral hospital was reviewed. All patients with onset of disease less than 1 year of age, spontaneous remission, secondary forms of NS associated with systemic diseases, and follow up duration of less than 12 months were excluded from the study. Patients were categorized into 6 groups: Group 1 needed biopsy prior to any treatment, group 2 non-relapsing NS, group 3 infrequently relapsing NS, Group 4 frequently relapsing NS, group 5 steroid dependent NS and group 6 steroid resistant NS. A total of 238 patients were enrolled in the study. Kidney biopsy was performed in 79 cases. Minimal change lesion (MCL) was the most common (36.7%) pathological diagnosis. Steroid responsiveness was found in 81.5% of all cases including: 96% of MCL (consisting of biopsy proven cases and presumed ones), 32% of focal and segmental glomerulosclerosis, 73% of diffuse mesangial proliferation and 58% of membranoproliferative glomerulonephritis patients. During minimal follow up period of 12 months, there were 194 patients in remission, 32 patients with active NS, and 12 patients in ESRD. Our study results showed that 81.5% of all patients, 96.2% of MCL and 32% of FSGS patients initially responded to steroid therapy.

Paucity of data exists between mean right atrial pressure (RAP) and inferior vena cava (IVC) size and collapsibility in pediatric patients with congenital heart disease. In a prospective study, fifty consecutive pediatric patients with different congenital heart diseases who had right side cardiac catheterization were studied, comparing right atrial pressure with simultaneous M-mode echocardiographic measurement of inferior vena cava diameter. Mean age of the patients was 4.96±4.05 years (30 male and 20 female). Patients were categorized into two groups according to their right atrial pressure (RAP) as measured by cardiac catheterization: Group 1 (40 patients) were those with mean RAP <8 mmHg and group 2 (10 patients) who had a mean RAP³ 8 mmHg. In M-mode echocardiography IVC size was statistically different (P=0.004 and 0.009) in inspiration and expiration in the two groups. Mean RAP was estimated to be > 8 mmHg when IVC diameter in inspiration was >3.6 (sensitivity of 100%, specificity of 47.5%, +LR=1.9) or if IVC diameter was >6mm in expiration (sensitivity of 70%, specificity of 87%, +LR=4.67). This study showed that measurement of IVC size in inspiration and expiration can be used as a reliable method for estimation of mean right atrial pressure.

In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran. To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 μg) of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method. In 99 beta-thalassemic children, 89 (89.9 %) were anti-HBs positive (responders) and 10 (10.1%) anti-HBs negative (non-responders). Three cases (3.03%) were anti-HBc positive and 1(1.01%) was HBsAg positive. HBV DNA was not detected in any of them. Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Fars province, south of Iran. In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine. The samples with a serum level of ³ 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography (HPLC) method. Nine out of 76996 newborns had a serum phenylalanine level ³2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria (PKU) among the patients was 62.5% and 37.5% respectively and the incidence of BH4 deficiency was 1/76996. These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Fars province. The high incidence makes a comprehensive screening program for management of the disease necessary.

Pectus excavatum (PE) and pectus carinatum (PC) are two common chest deformities. We investigated the prevalence of chest wall deformities including PE and PC in Iranian population. 25587 children and adolescents aged 7-14 years consisting of 13586 (53.1%) males and 12001 (46.9%) females were studied using cluster-stratified sampling method. Screening was clinical and based on descriptive findings. Suspected subjects with chest wall deformity were referred to the expert surgeon to confirm the diagnosis. The prevalence of chest deformities in our population was 204 (1.03%). The mean age of subjects was 10.2±3.0 years. Of these subjects 124 (0.49%) [74 (54%) males and 50 (42%) females)] had PE and 80 (0.31%) [58 (72.5%) males and 22 (17.5%) females)] had PC. The prevalence of PE seems to be very high in Iran. Special attention must be paid to diagnose and treat this problem in our population.

G6PC3 deficiency is a new neutropenic syndrome، which is characterized by severe persistent neutropenia، early onset infections and additional organ involvement، especially cardiac and urogenital malformations. In this report، we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation، who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/µl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF) administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea، bronchiolitis، and urinary tract infection were other infectious complications، while hydronephrosis، atrial septal defect، and patent ductus arteriosus were other manifestations. Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies.

A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid colon, rectal pouch, doubling of the genitalia with completely formed penis (diphallus), double bladder, urethra and hypospadias. No family history of abnormalities was noted. The patient underwent several operations: laparatory and colostomy at 3rd day of life, and after clinical and paraclinical investigations, cystoplasty, ureteral reimplantation and resection of left phallus were carried out when 4 months old. At the age of 1 year, after colostogram and total colon evaluation, laparatomy, resection of duplicated recto-sigmoid colon, and pull-through was carried out; 3 months later colostomy closure was performed and the patient discharged without complications.

The patients with diphallus have to be examined carefully because of the high incidence of other systemic anomalies. Treatment of diphallus usually includes excision of the duplicated penile structure, its urethra, and repair of associated anomalies.

Although achalasia is a relatively rare disease in pediatric age group، it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations. A 5-month old boy was hospitalized for cough and mild respiratory distress. Because of positive history of achalasia in his mother، achalasia was detected in esophgagography. Pneumatic dilation through endoscopy was successful. A 12-month follow-up revealed no problem. Achalasia must be considered for differential diagnosis in children with positive family history of achalasia even in the absence of typical clinical manifestations. An autosomal recessive mode of inheritance is probable. We suggest further researches and genetic studies to establish the pattern of inheritance.

Pityriasis rosea is a self-limited inflammatory condition of the skin that mostly affects young adults. Several less common atypical presentations have been reported. A 6-year old girl with red-brown maculopapular eruption sized 0، 5-1 cm in diameter localized on neck، trunk and popliteal region visited our general pediatric outpatient clinic. The eruption was wide spread especially on flexural areas. After consulting dermatologist skin biopsy was performed. According to clinical and histopathological findings as inverse (flexural) pityriasis rosea was diagnosed. For treatment، systemic antihistamine، topical corticosteroid cream and emollient were applied. The lesions healed in two months. Spontaneous healing of the eruption also confirmed the diagnosis of pityriasis rosea. We present this interesting pediatric case to show and discuss pityriasis rosea، atypical presentations، differential diagnosis and the importance of dermatological examination and importance of dermatologic consultation for pediatric patients with skin eruption.

The development of asthma appears to involve interplay between host factors and environmental exposures. The most important environmental factors are viral respiratory infections and airborne allergens in consist of sensitization to fungal aeroallergens [1]. Exposure to fungal aeroallergens was reported to be a cause of asthma in many parts of the world. There are few data on the prevalence of allergy to molds in Iran. This study was performed to determine the positive skin prick test to molds and their related risk factors in asthmatic children in Shiraz, southern Iran (Table 1). Skin prick test was done in two hundred and thirty asthmatic children with five types of common fungal aeroallergens (Aspergillus fumigatus, Caldosporium herbarum, Penicillium, Alternaria and Rhizopus). Out of 230 asthmatic children (175 boys, 55 girls) with mean age 6.34±3 years, 25 (10.9%) had positive skin test to molds. In other studies this rate was reported to be different between 2% to 80%[2]. Of 25 children with positive skin test to molds, the common fungal aeroallergen was Aspergillus followed by Cladosporium, Alternaria, Penicillium and Rhizopus. Amin R et al studied airborne fungal spores in Shiraz. The most important fungi, in order of numbers, had been Altenaria, Aspergilus, Rhizopus and Penicillium[3]. With regard to results of skin prick test in our study, it seems that Alternia is the most common outdoor fungus, but Aspergillus could be the most important indoor fungus.Another study showed in asthmatic patients that main skin test reactivity to fungi was for Aspergillus but most frequent cultured fungus was Cladosporium[4]. Of 25 subjects with positive skin test to molds, 5 (20%) were females, 20 (80%) were residents of urban areas and 4 (56%) lived in homes older than ten years. There was no significant correlation between the prevalence of mold skin test positivity in males and females, rural and urban habitats and age of homes. There was no difference in the frequency of positive skin test response to fungi in infants (£2 years of age) and older children in our study. This finding demonstrates that fungi allergy can start very early in life. Fifty-nine (25.7%) fathers had college degrees of whom five (8.5%) children had positive skin test to molds. Thirty-nine (17%) mothers had college degrees and three (7.7%) of their children had positive skin test to molds. We found no significant relationship between parents'' education level and results of the mold skin prick test. In other study, authors analyzed 57,000 children aged 6-12 yrs from 13 diverse countries. Multiple logistic regressions showed that low parental educational level was associated with an increased prevalence of wheeze and nocturnal dry cough[5]. There was no reason for our finding; only small sizes of parents with college degree were available. One child lived in apartment and 24 (96%) in houses. There was significant differences in the frequency of positive skin test response to mold and living in apartment or house. Ginger et al examined home characteristics and level of indoor allergens in 499 homes of asthmatic children. Increased temperature in apartment could be related to warming of surface and resultant decreased micro environmental relative humidity[6]. We think that decreased entrance of fungal aeroallergens and low humidity in apartments are causes of these differences. The site''s weather of our study is hot and dry; there were no significant differences between positive skin test to mold with dampness of home in this study. Other studies have shown that home dampness increases indoor mold burden and is associated with increased allergic symptoms among young children[7]. The results of this study showed that sensitivity to fungal aeroallergens may occur in asthmatic children. A positive reaction may even be observed during infancy. It seems that type of home is a significant factor to increase the presence of molds in residential areas. It is reasonable to consider fungal aeroallergens in the routine battery of inhalant skin tests in this geographic location.

Hypoxic-ischemic encephalopathy (HIE) is brain damage from a shortage of oxygen or blood flow to the tissues [1،2] and is characterized by clinical and laboratory evidence of acute or subacute brain injury due to asphyxia [1-6]. It is a major contributor to neonatal death and morbidity [4-6]. 15%-20% of HIE cases die during the neonatal period and 30% of those who survive suffer from neurodevelopmental disorders [1،3،6]. An estimated 23% of the 4 million neonatal deaths and 8% of all deaths at <5 years of age throughout the world each year are associated with signs of asphyxia at birth [1،4]. Even at referral centers in developed countries، death or moderate to severe disability occurs for 53% to 61% of infants diagnosed as having moderate to severe HIE [1،4،6]. Children with moderate/severe neonatal encephalopathy are at risk for reduced school performance، whereas those with mild encephalopathy have school performance scores similar to those of their peers [1،6]. HIE is one of the most common causes of cerebral palsy and other severe neurologic deficits in children occurring in two to nine of every 1000 live births [1-6]. The incidence of HIE reported in different studies varies widely [2-6]، which may be explained by the selection criteria for studies of HIE during the neonatal period [3،4]. The aim of the present study was to evaluate the frequency of hypoxic-ischemic encephalo-pathy in hospitalized neonates with seizure in Hamedan (west Iran) in a two year period. This is a retrospective cross sectional study on 34 neonates from 2004 to 2006. Inclusion criteria were: all neonates with seizures due to HIE asphyxia having pH below 7، 5th minute Apgar score between 0 and 3، decreased muscle tone and consciousness، cortical atrophy in brain CT scan and multiple organ involvement (eg، kidney، lungs، liver، heart، intestines). Neonates with jitteriness were excluded from the study. The study was based on the recorded files of the patients. CT scan findings، blood gas findings، Apgar score of 5th minute، decreased muscle tone and consciousness، seizure، age، sex and birth weight were recorded and analyzed using SPSS 13. Management plan for evaluation of hypoxic-ischemic encephalopathy included: Profound metabolic or mixed acidemia (pH<7)، persistence of Apgar score of 0-3 for longer than 5 minutes، neonatal neurologic sequelae (eg، seizures، coma، hypotonia)، multiple organ involvement (eg، kidney، lungs، liver، heart، intestines) and cortical atrophy in brain CT scan. From 34 neonates with seizure، 11 (32. 4%) had HIE. The infants who developed HIE had significantly 5th minute Apgar score between 0 and 3، decreased muscle tone and consciousness، pH below 7 in blood gas، cortical atrophy in brain CT scan and multiple organ involvement. The mean age of the neonates was 14. 03±10. 05 days (range 1 to 29 days). 25 (73. 5%) neonates were boys and 9 (26. 5%) girls. 23 (67. 6%) neonates had normal weight (2500 to 4000 gr)، 6 (17. 6%) low birth weight (1500 to 2500 gr) and 5 (14. 7%) very low birth weight (less than 1500 gr). In 1980، the term hypoxic ischemic encephalopathy (HIE) came into use for all phases of ischemic changes [1]. HIE is a potential cause of brain injury that can produce some alterations of the neurologic development of the newborn [4-6]. The incidence of HIE reported in different studies varies widely. The variability in the reported incidence of HIE may be explained by the selection criteria for studies of HIE during the neonatal period [2-6]. In our study the incidence rate of Hypoxic-ischemic encephalopathy was 32. 4%، which is higher than rates reported from other countries [1،2،4،5]. This difference may be due to evaluation of the incidence of HIE in newborns with seizure in our study. HIE occurs in two to nine per 1000 live births in developing countries [1-6]. Thomberg et al from Sweden reported an incidence rate of five and seven per 1000 live births [4]. The incidence of birth asphyxia in Palsdottir study in Iceland was 9. 4/1000 live term births [2]. In the other study of Palsdottir et al the incidence of HIE after birth asphyxia was 1. 4/1000. In Gonzales study in Spain the incidence of HIE was 4. 66 cases per 100 full-term newborns، this is higher than the rate reported in the present study [5]. In our study 67. 6% of neonates had normal birth weight، 17. 6% low birth weight and 14. 7% very low birth weight. Neonates with normal birth weight were more than those with other birth weights. This finding is different from the results of other studies [1-6]. The incidence of cortical atrophy in brain CT scan in our study was 32. 4%. This is consistent with incidence rates reported in the literature [1،3،6]. Neuroimaging appearances and EEG results help to prognosticate outcomes for preterm and term infants; the overall prognosis is poor [1،6]. Eghbalian and Monsef reported that brain CT scan appearance helps to prognosticate the outcome [3]. Supportive care includes maintenance of adequate ventilation، avoidance of hypotension، maintenance of normal metabolic status including blood glucose، fluids، nutritional status، control of seizures، and control of brain edema. Selective brain hypothermia may improve outcome in HIE infants [1]. This was a retrospective study with its limitations. We recommend similar prospective research documenting that improvement in antenatal care and intra-partum monitoring can decrease the incidence of HIE.