Iranian Journal of Child Neurology最新文献

The Succinate Dehydrogenase (SDH) enzyme is known as Complex-II in the electron transport chain. This study reports the clinical and molecular investigations of three pediatric patients (two of whom are siblings), with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to SDH gene mutations. The patients presented with severe hypotonia, developmental delay, spasticity, macrocephaly, and megalencephaly. Magnetic Resonance Imaging (MRI) revealed signal changes in the frontal, temporal, parietal, occipital cerebral, and cerebellar white matter, corpus striatum, thalamus, substantia nigra, inferior olivary nucleus, pyramidal tracts at the level of the pons and posterior limb of the internal capsule. Other typical findings involved a high succinate peak at 2.42 ppm and lactate peak at 1.3 ppm in Magnetic Resonance Spectroscopy (MRS). The siblings presented due to compound heterozygous c.143A>T (p. Asp48Val) and c.308T>C (p. Met103Thr) SDHB mutations, while the other patient presented due to compound heterozygous c.1754G>A (p. Arg585Gln) and c.1786G>C (p. Asp596His) SDHA mutation. The demonstration of succinate peak, particularly MRS, is highly diagnostic regarding SDH deficiency. MRS should be a standard part of routine radiological exams when there is a suspicion of a neurometabolic disease, especially mitochondrial disorders. Additionally, employing Next-Generation Sequencing (NGS) is advisable for patients as it allows for accurate diagnosis without requiring invasive procedures like muscle biopsies.

Objectives: Autism is determined by children's inability to communicate with others through language. More studies have shown that neurological soft signs (NSS) can be one of the symptoms of psychiatric disorders, including schizophrenia. However, complete and proven evidence regarding the role of NSS in the pathogenesis of autism has not been determined. For this purpose, this research investigated the prevalence of NSS in children with autism spectrum and their siblings and compared it with the control group.

Materials & methods: The current study was cross-sectional. In this study, thirty-two children aged 7-17 who had been referred to the pediatric psychiatry clinics of Imam Hossein Hospital and the Autism Charitable Association in Tehran, Iran, were entered; they were diagnosed with an autism disorder by a child and adolescent psychiatrist based on the DSM-5 diagnostic criteria. Furthermore, thirty-two siblings of children with autism in the age group of 7-17 years who did not have any neurological and mental disorders were included; thirty-two healthy individuals (controls) who did not have any disorders were evaluated with the K-SADS checklist. Gilliam Autism Rating Scale 3rd Edition (GARS-3) was also used to confirm the diagnosis and severity of the disease.

Results: The results showed that the incidence of NSS in the patient group was higher than in the other two groups, which was statistically significant (p<0.05). Furthermore, the results indicated that these signs had a high diagnostic value in identifying patients from healthy people.

Conclusion: In general, using the NSS score in patients with autism can be considered a prediction factor compared to their siblings. In addition, the score had no effect on the prediction between sibling and control subjects.

Horner syndrome, characterized by the triad of unilateral ptosis, miosis, and anhidrosis, typically arises following a stroke, surgical interventions in the neck and chest, or trauma. Horner syndrome is rare in children. This study presents the case of a 9-year-old girl with End-Stage Renal Disease (ESRD) caused by renal hypodysplasia. After permcath insertion, she developed a severe headache and anisocoria, followed by ptosis and a progressively expanding neck hematoma. Physical examination and MRI of the neck revealed that Horner syndrome, caused by hematoma formation following permcath placement, was the diagnosis. Supportive interventions were implemented, leading to significant improvement in Horner syndrome over a six-month period. Complications from permcath insertion can be a cause of Horner syndrome.

Neural tube defects (NTDs) are severe congenital anomalies resulting from improper neural tube closure. Craniorachischisis totalis, the most extreme form, involves failure of neural tube formation along the entire cranio-spinal axis. This rare condition is fatal, with limited reported cases globally. We report a case of a 35-year-old G3P1L1A1 woman admitted at 20 weeks and 4 days gestation for medical termination of pregnancy following second-trimester ultrasound findings of anencephaly and spinal dysraphism. The patient began folic acid supplementation only after pregnancy confirmation. The fetus exhibited acrania, bifid vertebrae, exposed neural tissue, frog-eye deformity, and limb contractures. Butterfly vertebrae was observed in infantogram. Retrospective ultrasound review revealed an absent cranial vault, disorganized brain matter, and a large open spinal defect extending to the upper lumbar region. Genetic and infectious panels were largely unremarkable, except for reactive rubella IgG. Craniorachischisis totalis arises from failure of neural tube closure, potentially linked to genetic mutations, folate deficiency, and multiple maternal risk factors. Here, we also revisit the various theories of neural tube closure. Early prenatal diagnosis and counseling are critical for managing craniorachischisis. Periconceptional folic acid supplementation remains the most effective preventive measure.

Although stroke has long been recognized as an adult health problem that causes significant morbidity and mortality, it is also an important cause of brain injury in infants and children. The present article deals with this issue from the perspective of medical history. Physicians have tried throughout history to diagnose and treat this disease. One of the physicians who first accurately described this disease was Ibn Thalaj, who died in 975 AD. The hypotheses that he has raised about the causes of neonatal stroke, along with his recommendations for prevention and treatment, are intriguing. Exploring these hypotheses highlights the ongoing human endeavor to comprehend and combat diseases.

Objectives: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by qualitative deficits in behavior and social interaction patterns. Recently, cognitive impairments commonly associated with ASD have been well-documented. Neurofeedback (NFB) has been proposed as a potential treatment for individuals with autism, but its effectiveness in improving cognitive issues remains uncertain despite multiple trials. This review aims to summarize the estate of documents regarding the cognitive efficacy of NFB for participants with ASD.

Materials & methods: Conducting a systematic review adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, this study scrutinized NFB studies specific to ASD treatment. Its inclusion criteria focused on studies involving individuals with ASD without comorbidities, employing JBI checklists to assess study quality. Utilizing PubMed, Embase, Web of Science, PsycINFO, and Scopus, supplemented by manual paper reviews, we initially identified 474 papers. After deduplication and full-text review, 12 studies were selected for analysis.

Results: Findings revealed that 83% of the chosen studies highlighted a positive impact of NFB on cognition in individuals with ASD. The findings suggest NFB as a promising alternative treatment, demonstrating efficacy in addressing attention, memory, executive function, and speech difficulties. Additionally, six studies indicated sustained long-term effectiveness of NFB in improving cognitive functioning among ASD patients.

Conclusion: This review supports the potential of NFB as a viable intervention for cognitive challenges in ASD. Furthermore, the results hint at broader applications of NFB beyond ASD, suggesting efficacy in addressing conditions like Attention Deficit/Hyperactivity Disorder (ADHD), sleep apnea, depression, and epilepsy.

Objectives: One of the clinical presentations of COVID-19 infection in children is seizure. Furthermore, based on other studies during the epidemy of the Omicron variant in Iran and other parts of the world, the incidence of seizure in children increased. Moreover, the distribution of different seizure types remains to be discovered due to the newness of the Omicron variant epidemic and the lack of studies in this field. Understanding the connections between demographic factors and different seizure types is crucial, as managing this disorder varies based on the type of seizure and the individual characteristics of each patient. This study aims to investigate the relationship between age and gender with the type of seizures in children under 18 years of age with the Omicron type of COVID-19.

Materials & methods: In this this analytical cross-sectional study included 45 children diagnosed with COVID-19 and having seizures. The required information, including demographic characteristics and clinical findings of seizures, was recorded in them.

Results: No statistically significant relationship was observed between demographic characteristics and the type of seizures.

Conclusion: Although this study contains significant clinical results, more studies are needed to clarify this issue due to its limitations.

Objectives: Maintaining and enhancing patients' quality of life (QoL) are considered the most significant objectives in healthcare systems. These objectives are directly associated with the intervention of healthcare providers across the globe. This study aimed to evaluate the health-related quality of life (HRQoL) of toddlers who have undergone interventions for oral clefts and compare it with a healthy control group.

Materials & methods: The present study is cross-sectional. Thirty-six toddlers aged 18 to 36 months with oral clefts undergoing team care were recruited from a pediatric hospital and matched with healthy peers based on inclusion criteria. Demographic characteristics were collected before the TNO-AZL preschool children's quality of life (TAPQoL) questionnaire was completed.

Results: The QoL was compared to an overall score and the average score of items and domains on the TAPQoL questionnaire between the groups. The results showed a significant difference between the two groups in social functioning (t=2.96, p = 0.004), cognitive functioning (t=2.21, p = 0.03), emotional functioning (t=3.99, p<0.01), and the total score (p<0.001). However, no significant difference was observed in physical functioning (t= 0.78, p=0.43), and toddlers with oral clefts had more reasonable scores.

Conclusion: The QoL of toddlers with oral clefts who received care from a multidisciplinary team was slightly better than that of the healthy group. Therefore, participating in these teams could lead these children to a similar QoL as their peers. Medical systems can provide easy accessibility to cleft care teams for patients and their families.

Objectives: The increasing popularity of wireless smart devices among adolescents has raised concerns about their possible negative effects on academic performance, phone addiction, and sleep disorders. In particular, this issue is of special importance in Iran because some studies have shown that more than 50% of Iranian adolescents are addicted to mobile phones according to the criteria of the Smartphone Addiction Scale-Short Version (SAS-SV). This study aimed to investigate the relationship between daily use time and/or exposure to wireless smart devices and some educational and psychological factors in high school students.

Materials & methods: This study was conducted on anonymous Iranian high school students using an online questionnaire. Only students aged 14 to 18 who owned personal smart devices were included in this study.

Results: Twenty-nine participants met the inclusion criteria. The results showed that female students used these devices more frequently than male students, and having multiple devices had negative effects on educational performance, phone addiction, and sleep disorders. Sleeping next to wireless devices also negatively impacts sleep quality.

Conclusion: This study highlights the need to promote healthy device usage habits among adolescents.

Wilson disease is an inherited disorder characterized by copper accumulation in various organs, leading to a wide range of clinical manifestations depending on the deposition site. Typically, symptoms of Wilson disease emerge between the ages of 5 and 35 years, primarily presenting with neurological and hepatic symptoms. This case report describes a 12-year-old boy diagnosed with Wilson disease based on low serum ceruloplasmin levels and elevated 24-hour urinary copper levels. His initial presentation included acute encephalopathy and tubulopathy with persistent hypokalemia. This case highlights the importance of a thorough evaluation, including neurological and renal assessments, to determine the underlying cause of acute encephalopathy, such as Wilson disease. Furthermore, this case shows that Wilson disease can manifest with neurological and kidney presentations despite a normal hepatic evaluation.