Tarek Omar | Faculty Of Medicine, Alexandria (original) (raw)
Papers by Tarek Omar
Clinical and Experimental Dermatology, 2020
Griscelli syndrome Type 1 (GS1; MIN 214450) is a rare autosomal recessive disease caused by mutat... more Griscelli syndrome Type 1 (GS1; MIN 214450) is a rare autosomal recessive disease caused by mutations in the MYO5A gene. 1 The syndrome was first reported in 1978, 2 and since then, three subtypes have been identified according to the phenotype and gene involved. In addition to the shared common feature of
Annals of Neonatology Journal
Egyptian Pediatric Association Gazette, 2022
Background The presented evidence-based clinical practice guideline (CPG) is proposed as a Nation... more Background The presented evidence-based clinical practice guideline (CPG) is proposed as a National CPG using an evidence-based and formal CPG adaptation methodology. The purpose of this study was to adapt the international CPGs’ recommendations for children with bronchiolitis to suit the healthcare system in the Egyptian context. This CPG, ‘diagnosis, treatment, and prevention of Bronchiolitis’, applies to children from 1 through 23 months of age. Other exclusions are noted. The quality of evidence, benefit-harm relationship, and strength of recommendations are indicated. This study is part of a larger collaborative initiative with the faculty staff of pediatric departments of 15 Egyptian universities and a national research center to formulate a national Committee (EPG) that aims to define the topics of, assign authors to, and assist in the adaptation of pediatric evidence-based CPGs according to a national strategic plan. The committee is guided by a formal CPG adaptation methodo...
Alexandria Dental Journal, Apr 1, 2019
INTRODUCTION: Dental caries is consistently reported as one of the primary medical needs of child... more INTRODUCTION: Dental caries is consistently reported as one of the primary medical needs of children with Cerebral palsy (CP). It has negative impact on the overall health of these children and increase burden on their parents OBJECTIVES: The aim of the study was to assess the influence of socioeconomic profile, previous dental visits, oral hygiene practices, and dietary habits on dental caries experience in children with CP in Alexandria, Egypt. MATERIALS AND METHODS: This case control study included 80 children with CP, who were 3 to 11 years old. Equal number of cases (children with CP who had caries lesions) and controls (caries free children with CP) were included. Data were collected using an interview based questionnaire and clinical examination. Questionnaire assessed socioeconomic characteristics, medical history, previous dental visits, oral health behaviours and dietary habits. Clinical examination assessed caries experience and oral hygiene index (OHI-S). Multiple regression analysis was used to examine the factors associated with dental caries. RESULTS: The average age of children in the study was 6.75 years, 68.8% of them were males. Caries experience was expressed through dmft for the primary teeth and dft/DMFT for mixed dentition. The mean values were 6.72± 2.52, 5.64 ±2.98 and 1.32 ±1.73, respectively. Children with CP with caries lesions had statistically significant poorer oral hygiene (p <0.0001), which is highly associated with high caries experience (Regression Coefficient=4.45, 95% CI= 3.75, 5.14). Other factors associated with DMF in children with CP included daily sugary snaking habits and food consistency. CONCLUSIONS: The level of oral hygiene status reflecting the efficiency of oral health behaviours, is considered the main factor associated with caries experience in children with CP. However, eating solid food and less than two sugary snacks per day were considered caries protective factors.
Alexandria Journal of Pediatrics, 2017
Background In the context of child rehabilitation, quality of life (QOL) is an important health-r... more Background In the context of child rehabilitation, quality of life (QOL) is an important health-related outcome measure that has a great clinical utility as it can guide practice. Study objectives The aim of this study was to develop a translated Arabic version of primary caregiver form of cerebral palsy QOL questionnaire for children aged 4–12 years (CP QOLـChild) and to assess its validity and reliability to be readily used in Arabic and Egyptian cultures. Patients and methods The original English version of CP-QOL questionnaire was translated into Arabic language using forward–backward translation method, and then a cross-sectional survey was conducted including 200 children with cerebral palsy aged 4–12 years and their caregivers. Caregivers of children were interviewed to collect data about their demographic characteristics, age, and sex of their children. They were asked to fill the translated Arabic version of QOL questionnaire. Assessment of psychometric properties including test–retest reliability, internal consistency, and item internal consistency was conducted. Results The translated questionnaire showed excellent test–retest reliability and good internal consistency as the intraclass correlation ranges from 0.88 to 0.97 and Cronbach’s α exceeds 0.7 except for the domains of family health and emotional well-being. The majority of the items have moderate to good correlation with their domain scores. Four out of seven domains showed significant correlation with Gross Motor Function Classification System. Conclusion The translated Arabic version of CP-QOL questionnaire (caregiver form) is valid and reliable and could be used to assess quality of life of children with cerebral palsy in Arab-speaking population.
Alexandria Journal of Pediatrics, 2017
Background Children with autism and their families especially their mothers face numerous and per... more Background Children with autism and their families especially their mothers face numerous and pervasive challenges. In addition to the expected concerns with behavior, communication, and morbidities, mothers expressed deep apprehension about their child’s isolation and meaningful integration into daily life. Difficulties to access a quality care, financial burden, issues of adulthood, and their child’s challenging behaviors may produce significant stressors to mothers. Healthcare providers should take these challenges into consideration when providing care to those children and their mothers. Aim The aim of this study was to assess the challenges and adjustments of mothers having children with autism. Patients and methods A convenient sample of 76 mothers who have children with autism represented the participants. They were recruited from the Neurological Outpatient Clinic of Alexandria University Specialized Children’s Hospital at Smouha, Egypt. Three tools were used to collect the data as: (i) Mothers’ Sociodemographic Data Interview Schedule, (b) Stressors of Mothers who have Children with Autism Interview Schedule 3. Parent and Family Adjustment Scale. Results Overall, 71.4% of the mothers who were in the age 40 to <50 years had moderate stressors percent score. More than half of mothers sometimes had feelings of anger and nervousness. Furthermore, they had anhedonia and were unable to do anything alone. There was a statistically significant difference between mothers’ total percent score of stressors and their adjustment regarding psychological, social, and management-related stressors. Conclusion Mothers who have children with autism were confronted with multiple stressors. The most perceived stressors were physical, psychological, financial, community-related, and management-related stressors followed by social and marital stressors. Adjustment pattern were affected by various factors, such as mother’s age, social support, and family income related to employment of mothers. Recommendations Regular periodic meetings should be conducted between mothers and hospital personnel to promote proper communication.
Alexandria Journal of Pediatrics, 2018
Background Cortical tubers are the most common brain lesions in patients with tuberous sclerosis ... more Background Cortical tubers are the most common brain lesions in patients with tuberous sclerosis complex (TSC). The relationship between cortical tubers and the severity of seizures is challenging and still not totally understood. Purpose The aim was to identify the different types of cortical tubers in children with TSC on the basis of MRI and to evaluate the relationship between these tuber types and severity of epilepsy. Participants and methods Twenty children with a history of TSC and neurological manifestations, mainly epilepsy, were enrolled in this prospective study. All patients were examined by conventional MRI imaging including 3D T1, axial T2, axial fluid-attenuated inversion-recovery (FLAIR), diffusion-weighted imaging, and susceptibility-weighted imaging. Characterization of different types of tubers was performed on the basis of the signal intensity of their subcortical white matter. The association between the severity of epilepsy and types of cortical tubers was studied. Results Four types of cortical tubers were identified labeled A, B, C, and D. Type A was only identified on T2 and FLAIR. Type B showed a hypointense T1 signal with hyperintensity on T2 and FLAIR. Type C was cystic, with the highest apparent diffusion coefficient values. Type D was calcified with blooming on susceptibility-weighted imaging. Patients were grouped into 4 groups according to the tuber types. There was a significant difference between different groups and frequency of seizures (P<0.05FNx01). Group A showed the most favorable course, whereas groups C and D showed a higher association with more severe phenotypes. Conclusions Cortical tubers can be classified into different types on the basis of their MRI signal intensities. Identification of these types is a valuable noninvasive diagnostic measurement in the assessment of the severity of seizures in TSC patients, which may help in tailoring the treatment for each patient.
International Journal of Paediatric Dentistry, 2013
Background. Autism Spectrum Disorder (ASD) is a lifelong neuro-developmental disorder characteriz... more Background. Autism Spectrum Disorder (ASD) is a lifelong neuro-developmental disorder characterized by abnormalities in social interactions and communication and by stereotyped, repetitive activities. Purpose. Assess the oral health status and behaviours of children with ASD. Methods. The study included 100 children with ASD and 100 healthy children from Alexandria, Egypt. Data were collected using a questionnaire and clinical examination. Questionnaire assessed socio-demographics, medical history, dental history, oral hygiene, dietary habits, and presence of self-injurious behaviours. Clinical examination assessed behaviour during examination, gingival condition, plaque accumulation, caries, and other oral conditions. Results. Children with ASD had significantly poorer oral hygiene and gingival condition than healthy children (P < 0.001 for both). No significant differences were found in caries prevalence or experience in primary or permanent dentition. More children with ASD behaved 'negatively' or 'definitely negatively' (37% and 11%) than did healthy controls (11% and 2%) (P < 0.0001). Self-injurious behaviour and bruxism were more practised by children with ASD (32% of children with ASD and 2% of healthy children, P < 0.001). More children with ASD had difficulty in accessing dental care (P = 0.002). Conclusions. The oral condition of children with ASD might increase the risk of developing dental diseases. Their behaviour and life factors may complicate provision of services and limit access to dental care. Therefore, individualized oral health education programmes should be implemented for those children.
Metabolic Brain Disease, 1994
International Journal for Quality in Health Care, 2002
Objectives. To evaluate the quality of care delivered to children with epilepsy and study the pre... more Objectives. To evaluate the quality of care delivered to children with epilepsy and study the predictors of seizure recurrence after initial control. Design. A cross-sectional study was conducted during 4-month period (1 January to 30 April 1999). Setting. Children's hospitals providing outpatient and in-patient services to the majority of children in Alexandria, Egypt. Outcome. Seizure recurrence after at least 6 months from anti-epileptic drug (AED) adjustment. Results. Electroencephalogram was performed in 82.1% of cases, whereas plasma assay was performed in only 7% of cases. AEDs were initiated after the first seizure rather than the first recurrence of seizure. Carbamazepine was the most frequently prescribed drug, followed by valproate, except for generalized absence type, which was mainly managed by valproate. Suboptimal quality of care consisted mainly of poor diagnostic assessment of children with epilepsy, underuse of plasma monitoring for AED levels, unjustified use of oral AEDs during breakthrough fits, and defective health education to the caregivers of children with epilepsy that was manifested by non-compliance with AEDs in 30.1% of cases. The outcome of the current healthcare was a 71.6% recurrence of seizures after initial control. Continuous seizures before treatment, a polytherapy regimen, and non-compliance with management procedures were significant predictors for seizure recurrence. Conclusions. More specialized neurological care and health education programs for the caregivers of children with epilepsy are warranted. By exploring the details of medical practice, a foundation is provided upon which to build a quality improvement program, using the parameters in our study as an initial framework.
The American Journal of Human Genetics, 2013
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusion... more Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.
Brain
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy sy... more Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing t...
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, Jan 29, 2018
Assessing the quality of care has become increasingly important to health care providers, regulat... more Assessing the quality of care has become increasingly important to health care providers, regulators and purchasers of care. This study assessed the quality of care provided to children with cerebral palsy attending Alexandria University Children's Hospital, Egypt. Paediatric neurology residents (n = 15) who provided care to children with cerebral palsy at the hospital completed a structured checklist assessing their compliance with generic care standards. The medical records of 84 children with cerebral palsy who received care at the hospital were reviewed using the same checklist. Another checklist was completed by the head of the paediatric neurology unit, medical director of the hospital, head of physical medicine and head nurse to assess adherence to process and service improvement standards. Face-to-face interviews were conducted with the caregivers/parents of the children using a client satisfaction questionnaire. Based on what was reported by health care providers, most ...
Nature genetics, Sep 18, 2016
The Greater Middle East (GME) has been a central hub of human migration and population admixture.... more The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These resul...
Metabolic Brain Disease, 2016
Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been disc... more Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been discovered so far. Here, we identified MLC1 and HEPACAM mutations in ten and two patients, respectively. The molecular results included an unreported inframe duplication mutation (c.929_930dupCTGCTG; p.L309dup) of MLC1 and a novel missense mutation c.293G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.R98H) of HEPACAM. Further, the previously reported missense (c.278C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T; p.S93L) and the deletion/insertion (c.908_918delinsGCA; p.V303Gfs*96) were found in one and 8 patients (75 %), respectively. The 8 patients carrying the p.V303Gfs*96 shared a similar haplotype suggesting a founder effect. All mutations were in the homozygous state proving the autosomal recessive mode of inheritance. The core phenotype of macrocephaly, subcortical cysts and white matter appeared homogeneous although the patients differed in the onset, clinical course, disease severity and brain imaging findings. Our study expands the spectrum of mutations in MLC1 and HEPACAM and supports the genetic and clinical heterogeneity. Further, It confirms c.908_918delinsGCA (p.V303Gfs*96) as a founder mutation among Egyptian patients. This finding will contribute to provide targeted testing for this mutation in MLC patients in our population.
Journal of Evaluation in Clinical Practice, 2015
The ADAPTE methodology for adaptation of guidelines has been used by many organizations to develo... more The ADAPTE methodology for adaptation of guidelines has been used by many organizations to develop high-quality clinical practice guidelines. Although it is a valid alternative for de novo development of guidelines, it might demand more time and resources in some institutions. The present study demonstrates the proposed &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; methodology to support more clarity, simplicity and practicality. It also aims at avoiding duplication within the process and reducing the resources and time allocated to the CPG adaptation projects. Clinical guidelines&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; adaptation in the Center for Evidence-Based Clinical Practice Guidelines at the Alexandria Faculty of Medicine and University Hospitals involves two stages: (1) cross-sectional or retrospective study to reveal the current practice and prescribing patterns concerning the selected health topic; (2) the &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; methodology for CPGs adaptation that was based on the original ADAPTE Process. The &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; included three modified tools, three new tools based on the original ADAPTE framework and alternatives for four ADAPTE steps to enhance utilization. The finalized adapted CPGs included nine high priority topics for paediatrics and two topics for emergency medicine. The ADAPTE methodology for guideline adaptation can be customized or &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; to the local health care setting and resources. This proposal facilitates supports and improves the utilization and update of the ADAPTE process by CPG programmes or activities in health care organizations. This is of particular importance in health care systems in developing countries with limited resources in the Eastern Mediterranean region like Egypt.
North American Journal of Medical Sciences, 2015
Background: There is considerable evidence which suggests that Omega 3 polyunsaturated fatty acid... more Background: There is considerable evidence which suggests that Omega 3 polyunsaturated fatty acids may have a potential use in the treatment of epilepsy.
German medical science : GMS e-journal
Description: Adaptation of 3 source CPGs for clinicians managing acute asthma in children in PEDs... more Description: Adaptation of 3 source CPGs for clinicians managing acute asthma in children in PEDs. Methods: Part1: cross-sectional study (questionnaire survey) for needs assessment of current practice in selected healthcare settings to select topic and justify need for thisCPGs. Part2: Adaptation (ADAPTE Process). Recomm.I-1: Children with life threatening asthma/SpO2 <90% receive urgently high flow O2. Recomm.I-2-a: Inhal. β2-agonists are 1st line treatment for acute asthma. Recomm.I-2-b: pMDI+ spacer is preferred in mild-moderate asthma. Recomm.I-2-c: Individualize drug dosing according to severity and response. Recomm.I-2-d: Children with acute asthma in primary care not improved after 10 puffs β2-agonists should be referred to hospital. Recomm.I-2-e: Treat children during transport to hospital by ambulance with O2+nebul. β2-agonists. Recomm.I-2-f: Transfer children with severe-life threatening asthma urgently to hospital to receive nebul. β2-agonists. Recomm.I-2-g: Oral β2-ag...
Clinical and Experimental Dermatology, 2020
Griscelli syndrome Type 1 (GS1; MIN 214450) is a rare autosomal recessive disease caused by mutat... more Griscelli syndrome Type 1 (GS1; MIN 214450) is a rare autosomal recessive disease caused by mutations in the MYO5A gene. 1 The syndrome was first reported in 1978, 2 and since then, three subtypes have been identified according to the phenotype and gene involved. In addition to the shared common feature of
Annals of Neonatology Journal
Egyptian Pediatric Association Gazette, 2022
Background The presented evidence-based clinical practice guideline (CPG) is proposed as a Nation... more Background The presented evidence-based clinical practice guideline (CPG) is proposed as a National CPG using an evidence-based and formal CPG adaptation methodology. The purpose of this study was to adapt the international CPGs’ recommendations for children with bronchiolitis to suit the healthcare system in the Egyptian context. This CPG, ‘diagnosis, treatment, and prevention of Bronchiolitis’, applies to children from 1 through 23 months of age. Other exclusions are noted. The quality of evidence, benefit-harm relationship, and strength of recommendations are indicated. This study is part of a larger collaborative initiative with the faculty staff of pediatric departments of 15 Egyptian universities and a national research center to formulate a national Committee (EPG) that aims to define the topics of, assign authors to, and assist in the adaptation of pediatric evidence-based CPGs according to a national strategic plan. The committee is guided by a formal CPG adaptation methodo...
Alexandria Dental Journal, Apr 1, 2019
INTRODUCTION: Dental caries is consistently reported as one of the primary medical needs of child... more INTRODUCTION: Dental caries is consistently reported as one of the primary medical needs of children with Cerebral palsy (CP). It has negative impact on the overall health of these children and increase burden on their parents OBJECTIVES: The aim of the study was to assess the influence of socioeconomic profile, previous dental visits, oral hygiene practices, and dietary habits on dental caries experience in children with CP in Alexandria, Egypt. MATERIALS AND METHODS: This case control study included 80 children with CP, who were 3 to 11 years old. Equal number of cases (children with CP who had caries lesions) and controls (caries free children with CP) were included. Data were collected using an interview based questionnaire and clinical examination. Questionnaire assessed socioeconomic characteristics, medical history, previous dental visits, oral health behaviours and dietary habits. Clinical examination assessed caries experience and oral hygiene index (OHI-S). Multiple regression analysis was used to examine the factors associated with dental caries. RESULTS: The average age of children in the study was 6.75 years, 68.8% of them were males. Caries experience was expressed through dmft for the primary teeth and dft/DMFT for mixed dentition. The mean values were 6.72± 2.52, 5.64 ±2.98 and 1.32 ±1.73, respectively. Children with CP with caries lesions had statistically significant poorer oral hygiene (p <0.0001), which is highly associated with high caries experience (Regression Coefficient=4.45, 95% CI= 3.75, 5.14). Other factors associated with DMF in children with CP included daily sugary snaking habits and food consistency. CONCLUSIONS: The level of oral hygiene status reflecting the efficiency of oral health behaviours, is considered the main factor associated with caries experience in children with CP. However, eating solid food and less than two sugary snacks per day were considered caries protective factors.
Alexandria Journal of Pediatrics, 2017
Background In the context of child rehabilitation, quality of life (QOL) is an important health-r... more Background In the context of child rehabilitation, quality of life (QOL) is an important health-related outcome measure that has a great clinical utility as it can guide practice. Study objectives The aim of this study was to develop a translated Arabic version of primary caregiver form of cerebral palsy QOL questionnaire for children aged 4–12 years (CP QOLـChild) and to assess its validity and reliability to be readily used in Arabic and Egyptian cultures. Patients and methods The original English version of CP-QOL questionnaire was translated into Arabic language using forward–backward translation method, and then a cross-sectional survey was conducted including 200 children with cerebral palsy aged 4–12 years and their caregivers. Caregivers of children were interviewed to collect data about their demographic characteristics, age, and sex of their children. They were asked to fill the translated Arabic version of QOL questionnaire. Assessment of psychometric properties including test–retest reliability, internal consistency, and item internal consistency was conducted. Results The translated questionnaire showed excellent test–retest reliability and good internal consistency as the intraclass correlation ranges from 0.88 to 0.97 and Cronbach’s α exceeds 0.7 except for the domains of family health and emotional well-being. The majority of the items have moderate to good correlation with their domain scores. Four out of seven domains showed significant correlation with Gross Motor Function Classification System. Conclusion The translated Arabic version of CP-QOL questionnaire (caregiver form) is valid and reliable and could be used to assess quality of life of children with cerebral palsy in Arab-speaking population.
Alexandria Journal of Pediatrics, 2017
Background Children with autism and their families especially their mothers face numerous and per... more Background Children with autism and their families especially their mothers face numerous and pervasive challenges. In addition to the expected concerns with behavior, communication, and morbidities, mothers expressed deep apprehension about their child’s isolation and meaningful integration into daily life. Difficulties to access a quality care, financial burden, issues of adulthood, and their child’s challenging behaviors may produce significant stressors to mothers. Healthcare providers should take these challenges into consideration when providing care to those children and their mothers. Aim The aim of this study was to assess the challenges and adjustments of mothers having children with autism. Patients and methods A convenient sample of 76 mothers who have children with autism represented the participants. They were recruited from the Neurological Outpatient Clinic of Alexandria University Specialized Children’s Hospital at Smouha, Egypt. Three tools were used to collect the data as: (i) Mothers’ Sociodemographic Data Interview Schedule, (b) Stressors of Mothers who have Children with Autism Interview Schedule 3. Parent and Family Adjustment Scale. Results Overall, 71.4% of the mothers who were in the age 40 to <50 years had moderate stressors percent score. More than half of mothers sometimes had feelings of anger and nervousness. Furthermore, they had anhedonia and were unable to do anything alone. There was a statistically significant difference between mothers’ total percent score of stressors and their adjustment regarding psychological, social, and management-related stressors. Conclusion Mothers who have children with autism were confronted with multiple stressors. The most perceived stressors were physical, psychological, financial, community-related, and management-related stressors followed by social and marital stressors. Adjustment pattern were affected by various factors, such as mother’s age, social support, and family income related to employment of mothers. Recommendations Regular periodic meetings should be conducted between mothers and hospital personnel to promote proper communication.
Alexandria Journal of Pediatrics, 2018
Background Cortical tubers are the most common brain lesions in patients with tuberous sclerosis ... more Background Cortical tubers are the most common brain lesions in patients with tuberous sclerosis complex (TSC). The relationship between cortical tubers and the severity of seizures is challenging and still not totally understood. Purpose The aim was to identify the different types of cortical tubers in children with TSC on the basis of MRI and to evaluate the relationship between these tuber types and severity of epilepsy. Participants and methods Twenty children with a history of TSC and neurological manifestations, mainly epilepsy, were enrolled in this prospective study. All patients were examined by conventional MRI imaging including 3D T1, axial T2, axial fluid-attenuated inversion-recovery (FLAIR), diffusion-weighted imaging, and susceptibility-weighted imaging. Characterization of different types of tubers was performed on the basis of the signal intensity of their subcortical white matter. The association between the severity of epilepsy and types of cortical tubers was studied. Results Four types of cortical tubers were identified labeled A, B, C, and D. Type A was only identified on T2 and FLAIR. Type B showed a hypointense T1 signal with hyperintensity on T2 and FLAIR. Type C was cystic, with the highest apparent diffusion coefficient values. Type D was calcified with blooming on susceptibility-weighted imaging. Patients were grouped into 4 groups according to the tuber types. There was a significant difference between different groups and frequency of seizures (P<0.05FNx01). Group A showed the most favorable course, whereas groups C and D showed a higher association with more severe phenotypes. Conclusions Cortical tubers can be classified into different types on the basis of their MRI signal intensities. Identification of these types is a valuable noninvasive diagnostic measurement in the assessment of the severity of seizures in TSC patients, which may help in tailoring the treatment for each patient.
International Journal of Paediatric Dentistry, 2013
Background. Autism Spectrum Disorder (ASD) is a lifelong neuro-developmental disorder characteriz... more Background. Autism Spectrum Disorder (ASD) is a lifelong neuro-developmental disorder characterized by abnormalities in social interactions and communication and by stereotyped, repetitive activities. Purpose. Assess the oral health status and behaviours of children with ASD. Methods. The study included 100 children with ASD and 100 healthy children from Alexandria, Egypt. Data were collected using a questionnaire and clinical examination. Questionnaire assessed socio-demographics, medical history, dental history, oral hygiene, dietary habits, and presence of self-injurious behaviours. Clinical examination assessed behaviour during examination, gingival condition, plaque accumulation, caries, and other oral conditions. Results. Children with ASD had significantly poorer oral hygiene and gingival condition than healthy children (P < 0.001 for both). No significant differences were found in caries prevalence or experience in primary or permanent dentition. More children with ASD behaved 'negatively' or 'definitely negatively' (37% and 11%) than did healthy controls (11% and 2%) (P < 0.0001). Self-injurious behaviour and bruxism were more practised by children with ASD (32% of children with ASD and 2% of healthy children, P < 0.001). More children with ASD had difficulty in accessing dental care (P = 0.002). Conclusions. The oral condition of children with ASD might increase the risk of developing dental diseases. Their behaviour and life factors may complicate provision of services and limit access to dental care. Therefore, individualized oral health education programmes should be implemented for those children.
Metabolic Brain Disease, 1994
International Journal for Quality in Health Care, 2002
Objectives. To evaluate the quality of care delivered to children with epilepsy and study the pre... more Objectives. To evaluate the quality of care delivered to children with epilepsy and study the predictors of seizure recurrence after initial control. Design. A cross-sectional study was conducted during 4-month period (1 January to 30 April 1999). Setting. Children's hospitals providing outpatient and in-patient services to the majority of children in Alexandria, Egypt. Outcome. Seizure recurrence after at least 6 months from anti-epileptic drug (AED) adjustment. Results. Electroencephalogram was performed in 82.1% of cases, whereas plasma assay was performed in only 7% of cases. AEDs were initiated after the first seizure rather than the first recurrence of seizure. Carbamazepine was the most frequently prescribed drug, followed by valproate, except for generalized absence type, which was mainly managed by valproate. Suboptimal quality of care consisted mainly of poor diagnostic assessment of children with epilepsy, underuse of plasma monitoring for AED levels, unjustified use of oral AEDs during breakthrough fits, and defective health education to the caregivers of children with epilepsy that was manifested by non-compliance with AEDs in 30.1% of cases. The outcome of the current healthcare was a 71.6% recurrence of seizures after initial control. Continuous seizures before treatment, a polytherapy regimen, and non-compliance with management procedures were significant predictors for seizure recurrence. Conclusions. More specialized neurological care and health education programs for the caregivers of children with epilepsy are warranted. By exploring the details of medical practice, a foundation is provided upon which to build a quality improvement program, using the parameters in our study as an initial framework.
The American Journal of Human Genetics, 2013
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusion... more Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.
Brain
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy sy... more Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing t...
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, Jan 29, 2018
Assessing the quality of care has become increasingly important to health care providers, regulat... more Assessing the quality of care has become increasingly important to health care providers, regulators and purchasers of care. This study assessed the quality of care provided to children with cerebral palsy attending Alexandria University Children's Hospital, Egypt. Paediatric neurology residents (n = 15) who provided care to children with cerebral palsy at the hospital completed a structured checklist assessing their compliance with generic care standards. The medical records of 84 children with cerebral palsy who received care at the hospital were reviewed using the same checklist. Another checklist was completed by the head of the paediatric neurology unit, medical director of the hospital, head of physical medicine and head nurse to assess adherence to process and service improvement standards. Face-to-face interviews were conducted with the caregivers/parents of the children using a client satisfaction questionnaire. Based on what was reported by health care providers, most ...
Nature genetics, Sep 18, 2016
The Greater Middle East (GME) has been a central hub of human migration and population admixture.... more The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These resul...
Metabolic Brain Disease, 2016
Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been disc... more Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been discovered so far. Here, we identified MLC1 and HEPACAM mutations in ten and two patients, respectively. The molecular results included an unreported inframe duplication mutation (c.929_930dupCTGCTG; p.L309dup) of MLC1 and a novel missense mutation c.293G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A (p.R98H) of HEPACAM. Further, the previously reported missense (c.278C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T; p.S93L) and the deletion/insertion (c.908_918delinsGCA; p.V303Gfs*96) were found in one and 8 patients (75 %), respectively. The 8 patients carrying the p.V303Gfs*96 shared a similar haplotype suggesting a founder effect. All mutations were in the homozygous state proving the autosomal recessive mode of inheritance. The core phenotype of macrocephaly, subcortical cysts and white matter appeared homogeneous although the patients differed in the onset, clinical course, disease severity and brain imaging findings. Our study expands the spectrum of mutations in MLC1 and HEPACAM and supports the genetic and clinical heterogeneity. Further, It confirms c.908_918delinsGCA (p.V303Gfs*96) as a founder mutation among Egyptian patients. This finding will contribute to provide targeted testing for this mutation in MLC patients in our population.
Journal of Evaluation in Clinical Practice, 2015
The ADAPTE methodology for adaptation of guidelines has been used by many organizations to develo... more The ADAPTE methodology for adaptation of guidelines has been used by many organizations to develop high-quality clinical practice guidelines. Although it is a valid alternative for de novo development of guidelines, it might demand more time and resources in some institutions. The present study demonstrates the proposed &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; methodology to support more clarity, simplicity and practicality. It also aims at avoiding duplication within the process and reducing the resources and time allocated to the CPG adaptation projects. Clinical guidelines&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; adaptation in the Center for Evidence-Based Clinical Practice Guidelines at the Alexandria Faculty of Medicine and University Hospitals involves two stages: (1) cross-sectional or retrospective study to reveal the current practice and prescribing patterns concerning the selected health topic; (2) the &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; methodology for CPGs adaptation that was based on the original ADAPTE Process. The &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted ADAPTE&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; included three modified tools, three new tools based on the original ADAPTE framework and alternatives for four ADAPTE steps to enhance utilization. The finalized adapted CPGs included nine high priority topics for paediatrics and two topics for emergency medicine. The ADAPTE methodology for guideline adaptation can be customized or &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;adapted&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; to the local health care setting and resources. This proposal facilitates supports and improves the utilization and update of the ADAPTE process by CPG programmes or activities in health care organizations. This is of particular importance in health care systems in developing countries with limited resources in the Eastern Mediterranean region like Egypt.
North American Journal of Medical Sciences, 2015
Background: There is considerable evidence which suggests that Omega 3 polyunsaturated fatty acid... more Background: There is considerable evidence which suggests that Omega 3 polyunsaturated fatty acids may have a potential use in the treatment of epilepsy.
German medical science : GMS e-journal
Description: Adaptation of 3 source CPGs for clinicians managing acute asthma in children in PEDs... more Description: Adaptation of 3 source CPGs for clinicians managing acute asthma in children in PEDs. Methods: Part1: cross-sectional study (questionnaire survey) for needs assessment of current practice in selected healthcare settings to select topic and justify need for thisCPGs. Part2: Adaptation (ADAPTE Process). Recomm.I-1: Children with life threatening asthma/SpO2 <90% receive urgently high flow O2. Recomm.I-2-a: Inhal. β2-agonists are 1st line treatment for acute asthma. Recomm.I-2-b: pMDI+ spacer is preferred in mild-moderate asthma. Recomm.I-2-c: Individualize drug dosing according to severity and response. Recomm.I-2-d: Children with acute asthma in primary care not improved after 10 puffs β2-agonists should be referred to hospital. Recomm.I-2-e: Treat children during transport to hospital by ambulance with O2+nebul. β2-agonists. Recomm.I-2-f: Transfer children with severe-life threatening asthma urgently to hospital to receive nebul. β2-agonists. Recomm.I-2-g: Oral β2-ag...