Medical Tourism and Neurological Diseases: Omani Patients' Experience Seeking Treatment Abroad.

Objectives: There is a dearth of research regarding the motivations and experiences of Omani nationals who travel abroad for medical treatment, especially for neurological diseases. The primary objective was to examine and draw comparisons between Omani adults and children with neurological disorders who pursued medical treatment abroad after being evaluated by local specialists. The study also aimed to gain insights into these patients' motivations and experiences.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

Perception about telemedicine services among parents of children with neurodevelopmental disorders in a specialised tertiary centre in Oman.

While telemedicine has shown promise for diagnosis and treatment, its integration into specialised clinics and mainstream healthcare is slow. A study at Sultan Qaboos University Hospital, Oman, investigated parental perceptions of virtual clinics and telemedicine experiences among parents of children with neurodevelopmental disorders (NDD) conducted from January 2021 to January 2022; the cross-sectional study involved 130 participants. The study revealed that 70% of participants were male, and the mean age of the children was 6.

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Synaptic Vesicle Glycoprotein 2 A (SV2A) is a membrane protein of synaptic vesicles and the binding site of antiepileptic drug levetiracetam. Biallelic Arg383Gln is reported in a family with intractable epilepsy earlier. Here, we report on the second family with early onset drug resistant epilepsy.

Pediatric Migraines: A Comprehensive Review and Perspectives on Diagnosis and Treatment.

Pediatric migraine (PM) is one of the most prevalent neurological disorders in children. It has numerous variants and the sufferers often present to emergency departments with a wide variety of signs and symptoms that make diagnosis difficult. The trend in diagnosing and managing PM cases remain suboptimal despite the comprehensive diagnostic criteria and various therapeutic options.

Assessment of quality of life in children with epilepsy in Oman.

Purpose: The study aims to describe the quality of life (QoL) in Omani children with epilepsy at Sultan Qaboos University Hospital, Oman.

Methods: One hundred and one Omani children, with an age range from 5 to 18 years, diagnosed with epilepsy were enrolled in the study over 3 months. Descriptive epidemiology was used to characterize QoL in these children.

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past few years, whole-exome sequencing (WES) has been proven to be a powerful, robust, and scalable approach for candidate gene discoveries in consanguineous populations. In this study, we recruited 215 patients affected with ID from 118 Middle Eastern families.

Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ) Gene.

Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as "negative." Inappropriate variant annotation and filtering steps are reasons for missing the molecular diagnosis. Noncoding variants, including splicing mutations, are examples of variants that can be overlooked.

Childhood Absence Epilepsy Associated With Concomitant Centrotemporal Spikes.

Objectives The coexistence of generalized epileptiform discharges of 3Hz spike-and-wave complexes, which are the hallmark of childhood absence epilepsy (CAE), and centrotemporal spikes, which are characteristic of benign epilepsy with centrotemporal spikes (BECTs) in the same or subsequent EEGs appears to be very rare. Only a few published reports have shown a possible concomitance of CAE and BECTs electrographic changes. The study aimed to analyze electrographic and clinical features of patients with CAE who had concomitant or subsequent EEG features of BECTs.

The Parental and Children Report of the Prevalence of Depressive Symptoms in Children and Adolescents Amid the COVID-19 Pandemic: A Cross-Sectional Study From Oman.

Studies from the past decades have shown that mood disorders are common during childhood and adolescence. This study aimed to estimate the point prevalence of depression in Omani children and adolescents during social distancing and lockdown and identify the risk factors for developing depressive symptoms during the COVID-19 pandemic. This is an analytical cross-sectional study conducted in May 2020, in which all young Omani people attending a mainstream school aged 8-18 years old were eligible to participate.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into 'pure HSP' in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and 'complex HSP' when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases.

Clinico-electrographic characteristics and classification of genetic generalized epilepsy in Oman.

Purpose: There is a lack of information on the annual incidence of genetic generalized epilepsy (GGE) in the Arab countries, especially Oman. Ascertaining the true burden of illness has crucial implications for health policies and priorities. We aim to study the clinico-electrographic characteristics, classification, and annual incidence of GGE in Oman.

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman.

Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.

Pyridoxine responsive seizures (PDRs) are characterized by early-onset seizures and epileptic encephalopathy (neonates and infants) which respond to pyridoxine. Any type of seizures can be the first presentation of PDRs in these children. The aim of this 20-year retrospective study was to report the profile of 35 children with PDRs.

Rituximab Treatment in : Report of two paediatric cases.

(MG) is an auto-immune disease involving the postsynaptic receptors in the neuromuscular junction. The condition is characterised by fatigable weakness of the skeletal muscles and is uncommon in children. Acetylcholinesterase inhibitors and immune-modifying medications are usually considered the mainstay of treatment.

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Recently, with the advancement in next generation sequencing (NGS) along with the improvement of bioinformatics tools, whole exome sequencing (WES) has become the most efficient diagnostic test for patients with intellectual disability (ID). This study aims to estimate the yield of a reanalysis of ID negative exome cases after data reannotation. Total of 50 data files of exome sequencing, representing 50 samples were collected.

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord.

Vincristine-induced neuropathy in pediatric patients with acute lymphoblastic leukemia in Oman: Frequent autonomic and more severe cranial nerve involvement.

Background: Vincristine (VCR) induced peripheral neuropathy is a common complication in children with acute lymphoblastic leukemia (ALL).

Procedures: A retrospective data analysis over an interval of 10 years (2006-2016) of all children with ALL seen at Sultan Qaboos University Hospital was carried out. Electronic medical records of eligible patients were reviewed.

Longitudinal extensive transverse myelitis (LETM) in children: A twenty-year study from Oman.

Objective: The data on children with diagnosis of idiopathic transverse myelitis (ITM) was searched to find the pattern of myelitis in Oman.

Methods: A retrospective study was carried out from January1995 to December 2014. Electronic medical records and patient medical files were seen to get the complete data of the children with ITM.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine. Phosphatidylethanolamine is a glycerophospholipid that, together with phosphatidylcholine, constitutes more than half of the total phospholipids in eukaryotic cell membranes.

Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature.

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis.