farzad ahmadabadi

Based on case reports, researchers have observed the incidence and clinical manifestations of Guillain-Barré Syndrome (GBS) following COVID-19 infection. Current hypotheses suggest that the risk of GBS may increase with COVID-19, and worsening GBS could elevate the risk of infection and exposure to the virus. This study aimed to assess the cognitive epidemic and mortality of children under 15 years of age with GBS during the COVID-19 pandemic and to compare them to two years earlier without addressing the etiology.

This cross-sectional study was conducted on all children admitted to Iranian hospitals with a diagnosis of GBS and whose clinical information was available in the national flaccid paralysis patient information registration system between April 2018 and April 2021.

The total number of registered cases of GBS in the pre-COVID-19 period and during this period was 778 cases and 504 cases, respectively (total N=1282), indicating a decrease in registered GBS during COVID-19. The mean age of the patients in the pre-COVID-19 period was 9.00 ± 2.78 years, and during the COVID-19, it was 8.99 ± 2.03 years (P-value =0.998). No significant difference was found in gender distribution between the two periods (P-value =0.427). The total number of paralysis cases studied after 60 days was 14.3% before the COVID-19 period and 17.3% during the pandemic (P-value =0.216). The mortality rate in patients with GBS was 0.13% in the pre-COVID-19 period and 0.19% in the COVID-19 period (P-value =0.757).

Despite the decline in the frequency of diagnosis and referrals of patients with GBS during the COVID-19 period, no difference was found in the demographic characteristics and clinical outcomes of children with GBS in the pre-COVID-19 period and during this pandemic.

Developmental and epileptic encephalopathy 9 (DEE9) is caused by pathogenic variants in the PCDH19 gene. The clinical features include early-onset seizures that are often provoked by fever and display clustered seizures, mild to profound intellectual disability, autistic traits, and behavioral disturbances. DEE9 is characterized by an unusual X-linked pattern where heterozygous females or rarely mosaic hemizygous males are affected, but hemizygous males and homozygous females are asymptomatic. In recent years, an increasing number of female and male patients with PCDH19-related epilepsy and symptoms have been reported. 

Here, we report two additional female patients with DEE9 who are siblings. After analyzing karyotype testing results, whole-exome sequencing (WES) was performed for the proband. Then, Sanger sequencing was carried out for proband, her affected sister, and parents.

Sequencing results revealed that our two patients had a heterozygous frameshift variant (NM_001184880.2: c.1091delC, p.P364Rfs*4) in the PCDH19 gene. We also reviewed previously reported cases with this mutation in detail.

This is the first report of germline mosaicism in the PCDH19 gene in the Iranian population and expanded the phenotypic spectrum of DEE9. Genetic testing has become an effective way of determining the diagnosis. Parental germline mosaicism should be considered when providing genetic counseling for X-linked/autosomal dominant disorders. This report also emphasizes the importance of considering prenatal diagnosis (PND) in such cases.

Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into Infantile, Juvenile, and Adult.

In this study, thirty-seven patients with GM1 and GM2-Gangliosidosis were referred to the neurology department of Mofid Children’s Hospital in Tehran, Iran, whose disease was confirmed from September 2019 to December 2021. This study assessed age, sex, and developmental status before the onset of the disease, clinical manifestations, brain imaging, and electroencephalography.

97.20% of patients were the result of family marriage. Approximately 80% of juvenile patients were developmentally normal before the onset of the disease. Developmental delay was more common among infantile GM1-Gangliosidosis than infantile GM2-Gangliosidosis, but in total, more than 50% of GM1&GM2-Gangliosidosis patients had reached their developmental milestone before the onset of the disease. With the onset of disease symptoms, 100% of patients regressed in terms of movement, 97.20% of them mentally, and 75% of them had seizures during the disease. The most common clinical findings were cherry-red spot, Mongolian spot, macrocephaly, organomegaly, hyperacusis, and scoliosis. The most common brain imaging findings included bilateral thalamus involvement, brain atrophy, PVL, and delayed myelination. The most common finding in electroencephalography was background low voltage with abnormal sharp waves.

This study concluded that most of the patients are the result of family marriage, and most of the juvenile patients are developmentally normal before the onset of the disease. In addition, more than 50% of infantile patients reach their developmental milestones before the onset of the disease. The most common clinical findings of these patients are seizures, cherry-red spot, macrocephaly, hyperacusis, Mongolian spot, and bilateral involvement of the thalamus.

Stuttering is a common problem at all ages and it is thus required to treat this problem since childhood. Atomoxetine is currently used for the treatment of attention deficit hyperactivity disorder (ADHD) and can also be effective for the treatment of stuttering due to its selective inhibition of norepinephrine reuptake and dopaminergic properties. Therefore, this randomized clinical trial (RCT) aimed to evaluate the effect of Atomoxetine on children’s stuttering.

Children aged 4–12 years, diagnosed with stuttering, who referred to pediatric neurology clinic, were randomly divided into experimental (N=50) and control (N=50) groups. One group received atomoxetine plus speech therapy and the other group only speech therapy. Both groups completed the Stuttering Severity Questionnaire (SSI4) at baseline (on the first visit) and three months after the intervention.

Most (67%) were boy; 24% aged <60mo,46% 60–95mo,and 30% >95mo. About half (52%) had a positive family history of stuttering. Stuttering severity was highest at ages of 60–95mo, in left–handed children,those who used formula,and those who felt insecure in the family; but was not different based on child’s sex, concomitant ADHD, multilingualism, facial or movement tics, based on sleeping hours, and using teats. Mean stuttering severity reduced in both groups (P<.001) with a greater decrease in the experimental group, compared to the control group (P=.011).

Atomoxetine,plus speech therapy,is effective for the treatment of children’s stuttering and can be used as a complementary treatment strategy in these patients.

Gratification disorder is a group of self-stimulatory behaviors which tends to form a habit. These normal behaviors are common and have various differential diagnosis including epilepsy. Hence, misdiagnosis may lead to perform unnecessary work-ups and treatments. In this article we have systematically reviewed available treatment options for gratification disorder.

We systematically searched Scopus, MEDLINE and Embase for related published articles from the beginning to 12th May 2021. We followed the search strategy in all electronic databases using these keywords: [“Self-gratification” AND “treatment”]; [“child” AND “masturbation” AND “treatment”]; [“Pediatric” AND “masturbation” AND “treatment”]; [“infantile” AND “masturbation” AND “treatment”]; [“Benign” AND “Infantile” AND “Dyskinesia” AND “treatment”].

The primary search yielded 241 studies; Five studies fulfilled the inclusion criteria and were included in this systematic review. None of the studies provided a good level of evidence. These studies indicate that behavioral therapy, Escitalopram and Aripiprazole can be considered as treatment options.

While pediatricians are familiar with gratification behaviors, their optimal management is overlooked. In addition to parental education and behavioral therapy, Escitalopram and Aripiprazole can be used as treatment options of this issue. There is a need to perform well-designed randomized control trials to obtain ideal evidence of the efficacy of these measures.

Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders characterized by social and communication impairment and restricted or repetitive behaviors. The pathogenesis of ASD is not well understood and it’s proved that genetic is strongly associated with ASD in 5 to 25% of cases. Inborn errors of metabolism(IEMs), defined by a vast array of disorders that are caused by specific enzyme deficiencies or transport protein defects, is as frequent as in 1 in 800 births. IEMs can manifest several psychiatric or behavioral manifestations such as self-injuriesincreased activity and aggression, personality changes, paranoia, depression, catatonia, and psychosis. IEMs underlie autistic symptoms in less than 5% of cases. The literature on the association between ASD and respiratory chain abnormalities is growing, including complex III/IV deficiency and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, as well as glucose-6-phosphate dehydrogenase deficiency. Google Scholar, Pubmed, and SCOPUS databases were searched using a combination of the following keywords: “autism spectrum disorder”, “autism spectrum”, “autistic feature” and “inborn error of metabolism”, “ IEM”, “congenital error of metabolism”. Initially, 655 articles were found and our expert and methodologist altogether selected 187 articles based on the titles, relevance, and text language. After reading full texts, 37 studies were selected for review. We think it’s best to consider IEMs in children with syndromic ASD and/or if there is a strong familial history of autism or parental consanguineous marriage.

Acute necrotizing encephalopathy of childhood (ANEC) is a disease characterized by post infectious (respiratory or gastrointestinal) encephalopathy accompanying with fever and  rapid alteration of consciousness and seizures. Acute encephalopathy following viral infection with seizure and altered of consciousness and absence of CSF pleocytosios with occasional increased level of protein are clinical characteristics of ANEC (1). This disease is nearly exclusively in East Asian infants and children who had been previously healthy (2). Serial magnetic resonance imaging examinations have demonstrated symmetric lesion involving the thalami, brainstem, cerebellum, and white matter in this disease (8). The condition accompanies a poor prognosis with high morbidity and mortality rates.We introduce 3 cases with ANE those referred to our hospital during 2 weeks and created this idea that we have an epidemic.