Thyroid Hormone Levels in Preterm Neonates with Birth Weight Less than 2500 g, Treated with Phenobarbital.

Objectives: Indicatively, phenobarbital can impair thyroid function in adults and children. The present research aims to evaluate the thyroid hormone levels in preterm neonates who had received phenobarbital treatment. Materials &Methods: This study was conducted on preterm neonates who weighed less or equal to 2500 g when phenobarbital was prescribed for treatment in the first 15 days of life. TSH and total T4 measurements were performed before and three months after initiation of phenobarbital. Results: In this study, the sum of preterm neonates stood at 94, of which 53 were girls, with a mean birth weight of 2004.41 ± 315.41g. Weight of 8.5% were under 1500 g. The mean gestational age was estimated at 33.64 ± 2.01 weeks. Mean T4 levels were 12.24 ± 1.96 and 12.07 ± 1.95 (p=0.334), and mean TSH levels were 5.34 ± 2.14 and5.15 ± 2.15 (p=0.376) before and after prescribing phenobarbital, respectively. The same results were compared based on sex, gestational age, birth weight, and height for T4 and TSH and T4 based on head circumference. The only significant difference was TSH in preterm infants with head circumference <32 cm before and after prescribing phenobarbital (p=0.030). Conclusion: In preterm newborns that had less than 2500 g birth weight, phenobarbital did not significantly alter the serum thyroid hormone levels.

The Effect of Probiotics on Headaches in Children with Migraine Treated with Sodium Valproate: A Randomized Controlled Clinical Trial.

Objective: Migraine is one of the most common complaints in children. This study aimed to determine the effect of probiotics (KidiLact) on headaches in children aged six to 15 years with migraine treated with sodium valproate. Materials & Methods: This double-blind, randomized controlled clinical trial was performed on eighty children with migraine treated with sodium valproate. Patients were divided into two groups. All patients in the intervention and control groups received two sachets of probiotics and a placebo daily for four months, respectively. They were compared in terms of frequency and severity of headaches and painkiller consumption before and two and four months after initiating probiotics. Results: The mean number of headaches in the second and third visits in the probiotic group was 1.27 and 1.18, and 2 and 1.50 per month in the placebo group, respectively. The authors observed a significant difference between the two groups in the second (P = 0.010) and the third visit (P = 0.019). Moreover, the mean severity of headache in the second and third visits in the probiotic group was 1.38 and 1.23, and 1.60 and 1.53 in the placebo group, respectively. The authors demonstrated that the daily consumption of painkillers in the probiotic group was significantly reduced compared to the placebo group (P = 0.007). Conclusion: Using probiotic supplements seems to significantly affect the severity and frequency of migraine headaches compared to the placebo, and daily consumption of painkillers was significantly reduced in the probiotic group compared to the placebo group.

Serum and Cerebrospinal Fluid Lactate Dehydrogenase in Children with Febrile Convulsions.

Objective: Tissue damage caused by febrile convulsion has not still been proved or refuted completely. Given the fact that lactate dehydrogenase as an intracellular enzyme can be increased due to tissue damage, we decided to evaluate serum and cerebrospinal fluid lactate dehydrogenase in children with febrile convulsion. Materials & Methods: This is a cross-sectional study on 166 children aged 6-24 month, in three groups of simple febrile convulsion (n=56), complex febrile convulsion (n=27) with 3 different subgroups (recurrence in 24 hours, duration >15 minutes, and with focal components), and control (n=83). Patients' serum and cerebrospinal fluid specimens were collected after meeting the inclusion criteria. Demographic information was documented and patients' serum and cerebrospinal fluid lactate dehydrogenase and glucose were measured. Data were analyzed using SPSS software. Result: The mean serum lactate dehydrogenase in simple febrile convulsion, complex febrile convulsion, and controls were 501.57± 143.70, 553.07±160.22, and 505.87±98.73 U/L, respectively. The mean cerebrospinal fluid lactate dehydrogenase in simple, complex febrile convulsion, and control groups were 22.58±11.92, 29.48±18.18, and 21.56±17.32 U/L, respectively. Only cerebrospinal fluid lactate dehydrogenase difference between complex febrile convulsion and control group (p=0.039) (In the duration >15 minutes subgroup and controls, p=0.028) was statistically significant. There was a significant difference between sex and serum lactate dehydrogenase in thesame subgroup of complex group (p=0.012). Conclusion: Complex febrile convulsion may lead to increase of lactate dehydrogenase in cns of CNS cellular damage.

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.

Effects of Iron Supplementation on Attention Deficit Hyperactivity Disorder in Children Treated with Methylphenidate.

OBJECTIVE: To evaluate the effect of iron on the attention deficit hyperactivity disorder, treated with methylphenidate. METHODS: This double-blind, randomized placebo-controlled clinical trial was performed on 50 children with attention deficit hyperactivity disorder under the treatment of methylphenidate, with ferritin levels below 30 ng/ml and absence of anemia. They were randomly assigned into two groups of ferrous sulfate and placebo, for 12 weeks. Conners' Parent Rating Scale (CPRS) was used to assess the outcome in the first, sixth, and twelfth weeks. RESULTS: Almost all CPRS subscales improved in the ferrous sulfate group from the baseline to the endpoint, although only the changes in conduct subscale scores were significant (p = 0.003). There was no significant difference in score changes between two groups in intergroup comparison. Also, the score of learning problems (p = 0.007) in the first six weeks, and conduct (p = 0.023) and psychosomatic (p = 0.018) subscales in the second six weeks were improved in the ferrous sulfate group compared with the placebo group. CONCLUSION: Our study showed promising effects of iron supplementation in the improvement of subscales of the CPRS.

The association of SHANK3 gene polymorphism and autism.

BACKGROUND: Autism spectrum disorder (ASD) and Autism are both general terms for a group of complex disorders of brain development. These disorders are characterized by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Many genes have been shown to be involved in Autism. SHANK3 (SH3 and multiple ankyrin repeat domain 3) is a member of the highly conserved Shank/ProSAP family of synaptic scaffolding proteins. SHANK3 is suggested as a strong candidate gene for the pathogenesis of Autism and its loss results in disruption of synaptic function. The rs9616915 SNP, which directly affects SHANK3 gene function of splicing regulation and protein structure damage, is a non-synonymous SNP (T>C) that found in exon 6, leads to substitution of Isoleucine to Threonine. The present study was aimed to evaluate whether rs9616915 polymorphism of SHANK3 are related with the susceptibility to Autism. METHODS: Samples were obtained from 90 patients diagnosed with Autism and 100 controls subjects and genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The results of this study showed that there is a significant association in genotype distribution between cases and controls (P=0.0001). RESULTS: Our findings revealed that individuals with TC genotypes were associated with increased risk of Autism disorder (OR=4.35, 95% CI: 2.15-8.80, P=0.0001) but no significant differences were found in allele distributions (P=0.1). CONCLUSIONS: Our results indicated that the SHANK3 rs9616915 polymorphism is associated with increased risk of Autism. Larger studies with more patients and controls are needed to confirm the results.

The Effect of "Creating Opportunities for Parent Empowerment" Program on Parents of Children With Epilepsy and Other Chronic Neurological Conditions.

OBJECTIVES: Parents taking care of children with epilepsy experience stress in their daily lives, which enhances their anxiety, changes their function, and eventually increases their children's behavioral problems. The present study aimed at investigating the effect of creating opportunities for parent empowerment (COPE) program on parents of children with epilepsy or other chronic neurological conditions. MATERIAL & METHODS: A quasi-experimental clinical trial was conducted on 88 mothers of hospitalized children with epilepsy aged 3 to 12 years. In the intervention group, the COPE program was conducted by the researcher in three phases and the usual care group received usual healthcare. The mothers' anxiety was assessed in three phases in both groups. RESULTS: Results of the present study showed that the effect of time and group-time interaction on the state anxiety and trait anxiety was significant in the intervention group; however, the effect of time was not significant in the usual care group (P = 0.12). The differences of state anxiety and trait anxiety were not significant between the two groups (P = 0.136), which depended on the baseline level of anxiety. By analyzing the covariance after controlling the two variables at baseline, it was observed that the score variations in the state anxiety and trait anxiety were significant at all studied time points. CONCLUSIONS: The results of the current study indicated the positive effect of the COPE program on the anxiety of parents of children with epilepsy. Since this technique is non-pharmacological, convenient, easy-to-apply, and cost-effective, it can be used to reduce the parents' anxiety.

Effectiveness of Iron Therapy on Breath Holding Spells in the Children.

OBJECTIVES: The pathophysiology and mechanism of Breath-Holding Spells (BHS) remain controversial, and the relationship between BHS and anemia has not been clarified, although iron supplementation appears to be effective in many patients. We aimed to assess the probable relation of iron level with initiation of these spells in children. MATERIALS & METHODS: Overall, 42 children with a diagnosis of BHS, aged between 6 months to 2 yr were enrolled during Mar 2015 to Dec 2016 at Rasht 17th Shahrivar Hospital, Rasht, northern Iran. Ferrous sulfate solution prescribed 6 mg/kg/d, 3 times daily, for all of cases, regardless of their iron levels, and the response to the treatment was evaluated. RESULTS: Twenty-five patients were boys (59.52%). The mean age for all patients was 11.71±4.63 months. Positive family history detected in 33.33%; iron deficiency anemia in 21.42%, depletion of iron stores in 52.38%, and normal iron status in 26.19% of cases. Simple spells showed significantly higher mean of Hb in comparison with severe spells (P=0.008); also increased number of spells per month significantly decreased the mean of Hb (P=0.007). Mean frequency of spells was 40.14±47.08 before and 11.14±31.10 after iron therapy, per month (P<0.0001). Overall, 32 patients (76.19%) had complete control of spells, 7 patients (16.66%) partial, 2 cases (4.76%) weak, and 1 child (2.38%) no response after iron therapy. CONCLUSION: Iron deficiency anemia may have an important role in BHS, and treatment of anemia may decrease number of the spells.

Neuropilin-2 rs849563 gene variations and susceptibility to autism in Iranian population: A case-control study.

Autism spectrum disorders (ASD) are neurodevelopmental disruptions usually diagnosed in the first three years of child's life that characterized by some impairments in verbal and nonverbal communication, problems in social interactions and repetitive behaviors. The neuropilin-2 (NRP2) gene has been shown to both guide axons and control neuronal migration in the central nervous system (CNS). In this study the association between the NRP2 gene and autism using a cohort of 120 Iranian children (50 cases with autism and 70 control cases) was analyzed. Single nucleotide polymorphism (SNP) was genotyped by the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analyses. There was significant difference between the genotype and allele frequency between control and patient groups (P = 0.003 and P = 0.01, respectively). The prevalence of genotype frequencies of TT and TG in autistic children were 40% and 60%, respectively, while in controls were 68.5% and 31.5%, respectively. The heterozyote TG was associated with an increased risk of autism compared with TT genotype (OR = 3.72, 95%CI = 1.53-6.95, P = 0.02). The allele frequencies of T and G in autistic children were 78.5% and 21.4%, respectively and in controls were 84.2% and 15.7%, respectively. The NRP2 G allele conferred a 2.29-fold increased risk to autism relative to the T allele (OR = 2.29, 95%CI = 1.23-4.29, P = 0.009). The results of this study showed that there is a significant association between rs849563 polymorphism and autism in the studied population. However in order to obtain a definitive conclusion larger studies with more samples are required to confirm the results of this study.