Next generation sequencing reveals novel homozygous frameshift in and splice acceptor variants in gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.

Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, mild to progressive microcephaly, delayed psychomotor development, hyperactivity, seizure, along with mild to swear aggressive behavior. Homozygous frameshift mutation in Pseudouridine Synthase 7, Putative; (PUS7) OMIM# 616,261 NM_019042.3 and splice acceptor variants in Alpha-Aminoadipic Semialdehyde Synthase; (AASS) OMIM# 605,113 NM_005763.

Whole exome sequencing reveals a homozygous nonsense mutation in gene leading to Tay-Sachs disease in Saudi Family.

Objective: To study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible on the eye.

Methods: Whole exome sequencing (WES) and Sanger sequencing was performed to study the variant leading to the disease.

Use of Electronic Entertainment and Communication Devices Among a Saudi Pediatric Population: Cross-Sectional Study.

Background: Excessive use of various electronic entertainment and communication devices, particularly among children, has been associated with increased behavioral problems. Despite children's escalating use of these devices, parents' awareness about the impact thereof is still lacking.

Objective: The objective of this study was to assess the use of electronic entertainment and communication devices among children attending a health care facility in Jeddah, Saudi Arabia, as well as the parental impression regarding the impact of electronic devices use on the behavior of their child.

Treatment of infantile spasms in Saudi Arabia.

Objective: To evaluate the treatment approach and compliance of pediatric neurologists with evidence-based guidelines across Kingdom of Saudi Arabia (KSA). These guidelines that clarify the optimal management of infantile spasms (IS) are not widely followed for various practical reasons.

Methods: Physicians practicing in the field of pediatric neurology in KSA were contacted from the database of national societies.

Publications pattern of clinical epilepsy research in Saudi Arabia.

Objective: To assess the progress in the field clinical epilepsy in Saudi Arabia, by analyzing in depth the research output productivity and publication pattern, and to identify the current situation of epilepsy research and offer solutions.

Methods: Literature search strategy was designed to retrieve accessible articles that are related to epilepsy utilizing PubMed, Google Scholar, and Embase. The retrieved articles were analyzed with several parameters, then evaluated using Oxford Center of Evidence Based Medicine level of evidence scale.

Public awareness of autism spectrum disorder.

Objective: Examine the awareness of autism spectrum disorders (ASD) in our community which would help in early recognition and improved support of affected families.

Methods: A focused 20-item questionnaire was designed to survey the public awareness and knowledge of ASD. Personal interviews were conducted during an ASD awareness day, which was organized in a major shopping mall on February 20, 2015 in Jeddah, Kingdom of Saudi Arabia.

Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia.

Objective:: To increase the use of evidence-based approaches in the diagnosis, investigations and treatment of Convulsive Status Epilepticus (CSE) in children in relevant care settings.

Method:: A Clinical Practice Guideline (CPG) adaptation group was formulated at a university hospital in Riyadh. The group utilized 2 CPG validated tools including the ADAPTE method and the AGREE II instrument.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation.

Copy number variations in Saudi family with intellectual disability and epilepsy.

Background: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging.

Dental health of children with cerebral palsy.

Cerebral palsy (CP) is a common chronic motor disorder with associated cognitive, communicative, and seizure disorders. Children with CP have a higher risk of dental problems creating significant morbidity that can further affect their wellbeing and negatively impact their quality of life. Screening for dental disease should be part of the initial assessment of any child with CP.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J.

The availability of services for children with autism spectrum disorder in a Saudi population.

Objective: To assess the perceived availability of various services provided by Autism centers in our region.

Methods: A cross sectional study was conducted from March to May 2015 involving health care workers at various governmental and private autism centers in Jeddah, Kingdom of Saudi Arabia. A structured 30-item questionnaire was designed to assess their demographics, training, experience, and the availability of various services at their centers.

Reflex Seizures Triggered by Diaper Change in Dravet Syndrome.

Dravet syndrome (DS) is a severe epilepsy syndrome characterized by early onset of multiple types of seizures. We report the first case of reflex seizures triggered by diaper change in a girl at 9 months old and 2 years old with a mutation in the SCN1A gene causing DS. Reflex seizures have been reported in patients with DS provoked by increased body temperature or visual stimulation.

Maternal knowledge of acute seizures.

Objective: To study maternal knowledge -of, and behavior during acute seizures.

Methods: A cross sectional study conducted from September 2013 to January 2014 included consecutive mothers presenting at the Pediatric Neurology Clinics of King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia. A structured 30-item questionnaire was designed to examine their demographics, knowledge, and behavior on acute seizures.

Lennox-Gastaut syndrome. Management update.

Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3 Hz) spike wave discharges on electroencephalography. Atonic seizures result in dangerous drop attacks with risks of injury and impairment of the quality of life. The seizures are frequently resistant to multiple antiepileptic (AED) drugs.

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.

Background: Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity. Copy number variants (CNVs) are key players in the genetic etiology of numerous neurodevelopmental disorders and prior findings also revealed that chromosomal aberrations are more susceptible against the pathogenesis of epilepsy. Novel technologies, such as array comparative genomic hybridization (array-CGH), may help to uncover the pathogenic CNVs in patients with epilepsy.

The impact of maternal iron deficiency and iron deficiency anemia on child's health.

Iron deficiency anemia is extremely common, particularly in the developing world, reaching a state of global epidemic. Iron deficiency during pregnancy is one of the leading causes of anemia in infants and young children. Many women go through the entire pregnancy without attaining the minimum required intake of iron.

Metabolic syndrome in the survivors of childhood acute lymphoblastic leukaemia.

Metabolic syndrome is a common complication encountered in children surviving acute lymphoblastic leukaemia (ALL). Affected patients develop obesity, insulin resistance, hypertension, and hyperlipidemia. Metabolic syndrome is a consequence of multiple factors, particularly hormonal imbalance induced by various ALL treatments.

Public awareness and attitudes toward epilepsy in Saudi Arabia is improving.

Objective: To examine public awareness and attitudes toward epilepsy in Riyadh, the capital city of Saudi Arabia.

Methods: A focused 10-item questionnaire was designed to survey public awareness and attitudes toward epilepsy. Personal interviews were conducted randomly by one author in preselected public places in Riyadh, Saudi Arabia during March and April 2011.

Intravenous methylprednisolone for intractable childhood epilepsy.

Background: Steroids have been used for the treatment of certain epilepsy types, such as infantile spasms; however, the use in the treatment of other intractable epilepsies has received limited study. We report our experience with intravenous methylprednisolone in children with epilepsy refractory to multiple antiepileptic drugs.

Methods: A series of consecutive children were analyzed retrospectively.

Primary school teacher's knowledge and attitudes toward children with epilepsy.

Purpose: Primary school teacher's knowledge and attitudes toward epilepsy can have significant impact on the performance and psycho-social development of the child with epilepsy. Our objectives were to study teacher's knowledge and attitudes and identify areas in which further teacher training and education are required.

Methods: A stratified random sample survey involving a group of primary school teachers in Jeddah, Saudi Arabia included private/public schools designated for male and female students.

The influence of fish oil on neurological development and function.

Fish oil originates from fish tissue rich in omega-3 fatty acids. These include eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA). Healthy individuals are advised to consume foods rich in fish oil at least twice a week.