Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

OBJECTIVES: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. METHODS: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. RESULTS: The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. CONCLUSION: The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00-20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0-21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia deposits were present. The disorder is associated with rare variants in NUDT2, a mRNA decapping and Ap4A hydrolysing enzyme, including novel missense and in-frame deletion variants. We show that these NUDT2 variants lead to a marked loss of enzymatic activity, strongly implicating loss of NUDT2 function as the cause of the disorder. NUDT2-deficient patient fibroblasts exhibit a markedly altered transcriptome, accompanied by changes in mRNA half-life and stability. Amongst the most up-regulated mRNAs in NUDT2-deficient cells, we identified host response and interferon-responsive genes. Importantly, add-back experiments using an Ap4A hydrolase defective in mRNA decapping highlighted loss of NUDT2 decapping as the activity implicated in altered mRNA homeostasis. Our results confirm that reduction or loss of NUDT2 hydrolase activity is associated with a neurological disease, highlighting the importance of a physiologically balanced mRNA processing machinery for neuronal development and homeostasis.

Clinical Characteristics and Risk Factors of Neonatal Hypoxic-Ischaemic Encephalopathy and Its Associated Neurodevelopmental Outcomes During the First Two Years of Life: A Retrospective Study in Saudi Arabia.

Objective: This study aimed to determine the clinical characteristics and factors associated with neonatal hypoxic-ischaemic encephalopathy (HIE) and its neurodevelopmental outcomes. Methods: We conducted retrospective case-control research to investigate the clinical and labour-related risk factors for HIE. In addition, a single-centre cohort study was conducted on infants with HIE to describe their neurodevelopment from birth to 24 months. For this investigation, cases with a diagnosis of HIE who were born at King Abdullah Children's Specialist Hospital (KASCH), Riyadh, Saudi Arabia, between 2015 and 2019 were identified and matched with controls from the same facility (1:4). Each case's clinical information was extracted using electronic medical records. In addition, 24-month follow-up HIE cases were included in a cohort study to describe their neurodevelopmental outcomes. Results: The sample includes 60 infants diagnosed with HIE and 234 infants serving as controls, with a mean gestational age of 38.8 weeks (SD 1.6) and a predominance of males (56.4%). Around one-third of the HIE cases (36.6%) had moderate HIE (stage 2), whereas 35.1% of infants had severe HIE (stage 3), according to Sarnat staging. Compared to the control group, children with HIE were twice as likely to be born to mothers with maternal comorbidities and more likely to have prepartum and intrapartum complications. A 24-month follow-up of neurodevelopmental outcomes for HIE babies revealed that approximately 24% exhibited delays in gross motor skill development, 22% in fine motor skill development, 33% in language skill development, and 22% in social skill development. Conclusion: In the HIE group, maternal comorbidities and prepartum or intrapartum complications were more common. The severity grade of HIE can be used to predict neurodevelopmental consequences. Enhancing patient care and rehabilitation requires a minimum of 24 months of neurodevelopmental follow-up.

The Prevalence of Active Epilepsy in the Kingdom of Saudi Arabia: A Cross-Sectional Study.

INTRODUCTION: The global prevalence of active epilepsy is around 6.38/1,000 persons. In the Arabian region, the median prevalence of active epilepsy is 4.4/1,000 persons. In the Kingdom of Saudi Arabia (KSA), the last prevalence study for active epilepsy cases was conducted in 2001 and showed an estimate of 6.5/1,000 persons. OBJECTIVES: The aim of the study was to investigate the prevalence of active epilepsy and etiological factors among Saudi individuals of all ages resident in the Riyadh area, the central province, and the capital of KSA. METHOD: This is a door-to-door cross-sectional epidemiological study that was conducted between 2012 and 2016. Patients were initially screened at their homes using a questionnaire, and then suspected individuals were interviewed in the clinic by neurologists and epileptologists. Data related to age, age at seizure onset, gender, probable etiology, treatment, family history, duration of epilepsy, and seizure control, as well as images for electroencephalogram and magnetic resonant imaging, were collected and analyzed. RESULTS: Among the 13,873 participants, active epilepsy was evidenced in 55 patients (3.96; 95% CI: [2.99-5.16]/1,000 persons). No significant variation in the prevalence rate was detected between male and female patients (3.99 vs. 3.94/1,000 persons). The age-specific prevalence was the highest among the infants (1-12 months) (14.78/1,000 persons). Of the various seizure types, complex partial seizures were the most common (33%), followed by generalized seizures (29.1%). Concerning etiology, epilepsies with idiopathic and cryptogenic etiologies were the most common in 18 (36.3%) cases. Structural, vascular, and focal abnormalities were the most commonly diagnosed abnormalities (18.2%, 14.5%, and 39.2%, respectively). CONCLUSION: The prevalence of active epilepsy in KSA has dramatically decreased during the last decades to a rate lower than those reported in most developing countries.

Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience.

IMPORTANCE: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome that is caused by a novel coronavirus 2 (SARS-CoV-2). It originated in China late December 2019 and was declared a global pandemic on March 12, 2020. Most reports of COVID-19 cases either presented with neurological manifestations or complications involve adults. Only few cases were reported in pediatric patients. OBJECTIVE: To report COVID-19 pediatric cases with neurological manifestations and identify the wide spectrum of its manifestations. DESIGN SETTING AND PARTICIPANTS: This was a retrospective, observational case series. Data of pediatric patients infected by SARS-CoV-2 presenting with neurological manifestations at King Abdullah Specialized Children Hospital in King Abdulaziz Medical City in Riyadh were collected from May 23 to June 30, 2020. RESULTS: We encountered 5 COVID-19 cases with neurological manifestations. Three patients who were previously healthy had new-onset neurological symptoms. Symptoms and signs included encephalopathy, ataxia, headache, seizure, papilledema, ophthalmoplegia, hyporeflexia, and different clinical spectra, such as Miller Fisher syndrome, meningoencephalitis, and idiopathic intracranial hypertension. Other patients attending our center were incidentally found to be SARS-CoV-2-positive, which caused a delay in the investigations required to reach diagnosis. CONCLUSIONS AND RELEVANCE: Our cases highlight the wide clinical spectrum of neurological manifestations in COVID-19 patients. Given the paucity of information about pediatric COVID-19 cases with neurological symptoms, we here reported these cases to shed light on the association between SARS-CoV-2 and neurological presentation. Moreover, our study indicates that many investigations are being delayed and could affect diagnosis and treatment.

Medical students' awareness of Personal Digital Assistant Devices' impact on their health.

AIMS: 1. To evaluate medical students' awareness of personal digital assistant devices impacts on their overall health. 2. To estimate medical students' hours on digital devices. 3. To determine the most common effect of personal digital assistant devices on medical student health. SETTINGS AND METHOD: This descriptive cross-sectional study was conducted at the college of medicine of a in Riyadh, Saudi Arabia. The participants were medical students, and a questionnaire consists of 3 sections was used. A sample of 289 medical students participated in the study. Kruskal-Wallis test was used to analyze the relationship between the knowledge score and the year of study. STATISTICAL ANALYSIS USED AND RESULTS: The research included medical students whose ages ranged from 19 to 25 years with a median (IQR) of 22.00 (21.00-23.00). Approximately, 56% of the participants were males, and the majority of the students were from year 3. The average hours spent daily while using PDA for studying was 5 hours with SD 2.7. 167 (58%) of the students reported that studying using PDAs has affected their life. The most experienced effects reported was dry eyes and vision problems 53 (54%). CONCLUSIONS: The current study revealed that the majority of medical students have adequate knowledge of PDAs' effects on their health despite their continuous use. More attention should be paid to reduce the effects on their health by raising campaigns to increase the awareness of all the students and the community.

Parental awareness of headaches among elementary school-aged children in Riyadh, Saudi Arabia: A cross-sectional studyz.

CONTEXT: Headaches can negatively impact children's quality of life. Nevertheless, data on the parental awareness of childhood headache is very limited. AIM: The objective was to estimate the prevalence of childhood headaches and parental awareness of headaches among their elementary school children. SETTINGS AND DESIGN: A cross-sectional study was conducted among parents who were shopping in five malls in Riyadh between March and July 2019. METHODS AND MATERIAL: Data were collected using a self-completed questionnaire, which included data on socio-demographic characteristics of the parents and their children, the presence of headache in children, and parental awareness about headache susceptibility, possible causes, associated symptoms, and management. STATISTICAL ANALYSIS USED: Descriptive and inferential statistics were employed as appropriate using the software SPSS. RESULTS: A total of 292 parents were included. The majority were mothers (75.3%) in the age range of 26-45 years (83.2%). Approximately 62.3% of the parents reported headaches in their children. Approximately 47.6% of the headaches were attributed to "the use of electronic devices". The overall parental awareness of headaches was 55.1%, with scores being highest for management questions (67.0%) and lowest for susceptibility questions (45.4%). In a multivariate logistic regression analysis adjusted for socio-demographic characteristics, parental awareness was positively associated with the presence of children with headaches in the family and negatively associated with Saudi nationality of the children. CONCLUSIONS: Parental awareness of childhood headache is insufficient. There is a need to increase the awareness of parents about childhood headaches and the problems associated with heavy electronic device use.

Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.

Background: The coronavirus disease 2019 (COVID-19) pandemic has caused overwhelming challenges in healthcare worldwide. During such an outbreak, some needs of high-risk groups who require regular follow-ups and long-term management are not met. The vulnerable populations include patients with Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy is characterized by respiratory complications caused by muscle weakness. Hence, patients with this condition are at high risk of severe diseases including COVID-19. Methods: To standardize care and provide optimal treatment to DMD patients in Saudi Arabia during the COVID-19 pandemic, a panel of experts including neurologists and pediatricians consolidated recommendations for healthcare professionals and caregivers. Results: During this pandemic, substituting unnecessary clinic visits with virtual clinic services was highly recommended, if possible, without compromising clinical outcomes. Duchenne muscular dystrophy patients with respiratory complications should be closely monitored, and those with cardiovascular complications must continue taking angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. Moreover, individualized home-based rehabilitation management was preferred. Glucocorticoid and new gene correction therapies should be continued. However, new gene correction therapy must be post-poned in newly diagnosed patients. A multidisciplinary decision was required before the initiation of hydroxychloroquine based on the COVID-19 treatment protocol. Conclusion: COVID-19 has caused challenges and transformed access to health care. However, these limitations have provided opportunities for the health care system to adapt. Further, telemedicine has become a reliable platform for follow-up appointments that should be conducted by a multidisciplinary team including physicians, dieticians, and physical therapists.

Adapting evidence-based clinical practice guidelines for people with attention deficit hyperactivity disorder in Saudi Arabia: process and outputs of a national initiative.

BACKGROUND: We recently adapted the published National Institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-novo development will improve their adoption and implementation without imposing a significant burden on resources. The objective of this paper is to describe the adaptation process methodology utilized for the generation of the first national guideline for management of people with ADHD in Saudi Arabia. METHODS: We used the KSU-Modified-ADAPTE methodology for the guideline adaptation process. We describe the full process in detail including the three phases of set-up, adaptation, and finalization. The process was conducted by a multidisciplinary guideline adaptation group in addition to an external review for the clinical content and methodology. RESULTS: The group adapted ten main categories of recommendations from one source CPG (NICE). The recommendations include: (i) service organisation and training, (ii) recognition, identification and referral, (iii) diagnosis, (iv) support, (v) managing ADHD, (vi) dietary advice, (vii) medication, (viii) maintenance and monitoring, (ix) adherence to treatment, and (x) review of medication and discontinuation. Several implementation tools were compiled and developed to enhance implementability including a clinical algorithm, quality measures, coding system, medication tables, translations, patient information, and online resources. CONCLUSIONS: The finalized clinical practice guideline provides healthcare providers with applicable evidence-based guidance for the management of people with ADHD in Saudi Arabia. The project also demonstrated the effectiveness of KSU-Modified-ADAPTE, and emphasized the value of a collaborative clinical and methodological expert group for adaptation of national guidelines.

Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.

INTRODUCTION: Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagnosis was mainly based on epilepsy gene panels and not on whole exome and/or genome sequencing. METHOD: We retrospectively analyzed 420 index cases, referred for NGS over a period of 18 months, to investigate the challenges in diagnosing epilepsy. RESULT: Of the 420 cases, 65 (15%) were referred due to epilepsy with one third having a positive family history. The result of the NGS was 14 positive cases (21.5%), 16 inconclusive cases (24%), and 35 (53%) negative cases. No gene has been detected twice in the inconclusive and positive groups. Comparative genomic hybridization has been performed for all 30 NGS negative cases and four cases with pathogenic variants (deletion in 15q11.213.1, deletion of 2p16.3, deletion in Xq22.1, and deletion in 17p13.3) were identified. CONCLUSION: These findings have implications for our understanding of the approach to genetic testing and counseling of patients affected with seizures and epilepsy disorders. The overall diagnostic yield of exome/genome sequencing in our cohort was 23%. The main characteristic is genetic heterogeneity, supporting NGS technology as a suitable testing approach for seizures and epilepsy disorders. Genetic counseling for newly identified disease-causing variants depends on the pedigree interpretation, within the context of disease penetrance and variable expressivity.

Quality of life in paediatrics with intractable epilepsy in a large paediatric university hospital in Riyadh, Saudi Arabia.

CONTEXT: Epilepsy is said to be intractable when two or more trials of anticonvulsants fail to control the seizures. Literature suggests that intractable epilepsy carries a higher morbidity than controlled epilepsy in children and their caregivers. AIMS: The aim of this study is to assess the quality of life (QOL) in children with intractable epilepsy (IE) in KASCH, a tertiary care hospital in Riyadh, Saudi Arabia. SETTINGS AND DESIGN: This is a cross-sectional study utilizing a self-administered questionnaire filled by caregivers of epileptic patients visiting the outpatient neurology clinics. METHODS AND MATERIALS: The quality of life in childhood epilepsy (QOLCE-55) scale examined four domains of life: cognitive, emotional, social, and physical. The sample consisted of 59 parents whose children aged 4-14 of either sex. STATISTICAL ANALYSIS USED: The collected data were analyzed by Statistical Package for the Social Sciences (SPSS) version 22. RESULTS: The mean age of children was 8.9 (SD = 2.9). The mean QOL was 52.8 (SD = 12.9), which reflected a poor QOL. Age was not related to the QOL. Gender was significantly associated with the total and social scores, (P = 0.04) (P = 0.001), respectively. Out of all comorbidities, global developmental delay (GDD) and encephalopathy were significantly associated with the QOL (P < 0.05). CONCLUSIONS: Intractable epilepsy impacted all functioning domains of life rendering a poor QOL. Males have reported better QOL and social functioning compared to females. Children with GDD and encephalopathy showed lower well-being.

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement. METHODS: BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be included in the newborn-screened disorders. RESULTS: Using targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns. No probands having homozygous pathogenic mutations were found in the studied cohort. The variant has been frequently reported previously in homozygous state in Saudi population, making it a hot spot mutation. The current study showed that the carrier frequency of SLC19A3 gene mutation is 1 of 500 in Saudi newborns. CONCLUSION: For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level. However, a larger cohort is needed for a more accurate estimate.

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

PURPOSE: Epileptic encephalopathies (EE), are a group of age-related disorders characterized by intractable seizures and electroencephalogram (EEG) abnormalities that may result in cognitive and motor delay. Early infantile epileptic encephalopathies (EIEE) manifest in the first year of life. EIEE are highly heterogeneous genetically but a genetic etiology is only identified in half of the cases, typically in the form of de novo dominant mutations. METHOD: This is a descriptive retrospective study of a consecutive series of patients diagnosed with EIEE from the participating hospitals. A chart review was performed for all patients. The diagnosis of epileptic encephalopathy was confirmed by molecular investigations in commercial labs. In silico study was done for all novel mutations. A systematic search was done for all the types of EIEE and their correlated genes in the literature using the Online Mendelian Inheritance In Man and PubMed databases. RESULTS: In this case series, we report 72 molecularly characterized EIEE from a highly consanguineous population, and review their clinical course. We identified 50 variants, 26 of which are novel, causing 26 different types of EIEE. Unlike outbred populations, autosomal recessive EIEE accounted for half the cases. The phenotypes ranged from self-limiting and drug-responsive to severe refractory seizures or even death. CONCLUSIONS: We reported the largest EIEE case series in the region with confirmed molecular testing and detailed clinical phenotyping. The number autosomal recessive predominance could be explained by the society's high consanguinity. We reviewed all the EIEE registered causative genes in the literature and proposed a functional classification.

Intravitreal Ranibizumab Injection for the Treatment of Retinopathy of Prematurity.

OBJECTIVES: To evaluate the efficacy of a single injection of 0.3 mg intravitreal ranibizumab for the treatment of retinopathy of prematurity (ROP). METHODS: We conducted this retrospective case series study at King Abdul Aziz Medical City, Riyadh, Saudi Arabia. Seventy-four eyes of 37 preterm infants with ROP stage III with plus disease in zone I, posterior zone II, and aggressive posterior ROP received a single injection of 0.3 mg intravitreal ranibizumab. The favorable outcome measure was complete regression of the disease with normal vascularization of the retina of those infants. RESULTS: The gestational age of the 37 included cases was in the range of 23-28 weeks and their body weight at birth was between 510 and 1,235 g except for one case with 2,550 g under oxygen therapy <7days with severe hypoglycemia. All eyes showed a favorable response in terms of regression of plus disease from the first day after treatment, followed by regression of stage III retinopathy. All patients developed complete vascularization over variable periods of time. CONCLUSION: One injection of 0.3 mg intravitreal ranibizumab is effective in treating ROP stage III mainly in zones I and II.

Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study.

BACKGROUND: Guillain-Barré syndrome (GBS) is a progressive acute form of paralysis most probably secondary to an immune-mediated process. GBS among Saudis has been seldom investigated, which leaves both clinicians and researchers with scarcity in knowledge. Therefore, this study aims to assess the prevalence and clinical prognosis of GBS among pediatrics admitted with acute paralysis at a large healthcare facility in Riyadh, Saudi Arabia. METHODS: This retrospective study reviewed patients' medical records between 2005 and 2015. Eligible cases were children (<14 years old) admitted to the hospital complaining of acute paralysis and later diagnosed with one form or variant of GBS. Pearson's chi-square, Fisher's exact test, and binary logistic regression were employed to analyze the collected data. RESULTS: The prevalence of GBS was 49%. The male-to-female ratio was 1.45:1. The mean ± standard deviation age was 7±3.7 years. There were 34 (69.4%) cases with progression to maximum paralysis in ≤2 weeks, while 15 (30.6%) cases occurred beyond 2 weeks. Males (n=24, 82.8%) were more likely to endure progression to maximum paralysis in ≤2 weeks after the disease onset, compared to females (n=10, 50%), P=0.014. All cases complaining of respiratory problems exhibited a progression to maximum paralysis in ≤2 weeks, compared to those with no respiratory problems, P=0.027. Residual paralysis at 60 days post disease onset was highly associated with GBS patients of age 8-14 years (n=15, 65.2%), compared to younger patients (n=8, 30.8%), P=0.016. Patients admitted in colder seasons (n=14, 63.6%) were more likely to suffer residual paralysis too, compared to those in warmer seasons (n=9, 33.3%), P=0.035. GBS cases who complained of facial weakness (n=9, 75%) and ocular abnormalities (n=10, 71.4%) were also more likely to endure residual paralysis at 60 days post disease onset, P=0.025 and P=0.03, respectively. CONCLUSION: Male gender could be a determinant of rapid progression to maximum paralysis, while the older age group in pediatrics is expected to endure residual paralysis at 60 days post disease onset. GBS can be accounted as a rare disease, especially in pediatrics, so confirmed cases should be investigated comprehensively for research purposes.

Prospective study of early and late outcomes of extremely low birthweight in Central Saudi Arabia.

BACKGROUND: Survival of preterm neonates has steadily improved over the past five decades, due to changes in the neonatal intensive care. However, in Saudi Arabia, there are no written guidelines on the definition of the lower limit of viability, and there has been a call for such a limit. The aims of this study were: (1) to determine lower limits of viability and survival in extremely low birthweight (ELBW) infants, and (2) to determine incidence of neurodevelopmental and cognitive abnormalities within 3-6 years after birth. METHODS: Prospective study of all live inborn ELBW infants admitted to the neonatal unit of King Abdulaziz Medical City, Riyadh, Saudi Arabia, within 3 years [between January 1st, 2005 and December 31st, 2007] was conducted (n = 117). Data were collected on demographic and birth data, neonatal complications & interventions and death on discharge. Prospective follow up of all survivors was done, within 6 years after birth, to assess the outcome in terms of neurodevelopmental and cognitive abnormalities. Predictors of survival were determined using logistic regression model. Significance was considered at p-value ≤0.05. RESULTS: Of all ELBW infants, 41% died before discharge. Survival rate was directly correlated with gestational age (GA) and birthweight (p < 0.05). The 50% limits of viability were those at 25 weeks' gestation or with > 600 g. After adjusting for possible confounders, significant predictors of survival were birthweight (p = 0.001) and Apgar score (p < 0.001). The following impairments were reported during follow up of survivors: developmental delay (39.2%), cerebral palsy (36.2%), speech problems (33.3%), wasting (12.5%), intellectual disability (10%), visual problems (6.6%) and hyperactivity (5.6%). CONCLUSION: More than one-third of ELBW died before discharge from NICU, and two-thirds of survivors had one or more neurodevelopmental and/or cognitive abnormalities during their first 6 years of life. The 50% limits of viability of ELBW infants were those at week 25 of gestation or with a birthweight of more than 600 g. Birthweight could be considered as more valid than gestational age in the prediction of viability of ELBW infants. The process of care of ELBW infants in Saudi Arabia may need to be revisited taking these findings into consideration.