Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

BACKGROUND: Oculocutaneous albinism type1 (OCA1) is caused by the TYR gene's homozygous and compound heterozygous variants. TKFC gene variants cause triokinase & FMN cyclase deficiency syndrome with variable multisystemic disorders. OBJECTIVES: To determine the potential disease-causing variants in two deceased patients presenting atypical OCA1 features by demonstrating three generations for a single family. The two deceased neonates had severe skeletal abnormalities and fatal hypertrophic cardiomyopathy. We also explored the potential mechanisms for the causative relationship between TKFC and multisystem disorders. PATIENTS AND METHODS: Due to the new emerging symptoms that weren't reported before with the TYR gene, the following methods were performed: Sanger sequencing for the TYR gene, followed by whole exome sequencing, co-segregation, and computational analyses. RESULTS: Extensive parental consanguinity was found, and consequently an autosomal recessive mode of inheritance was prioritized. Upon performing sequencing and segregation data, the following has been confirmed: positive co-segregation of nonsense homozygous NM_000372.5:c.346C > T p.(Arg116*) variant in TYR gene and multisystem disease-missense homozygous NM_015533.4:c.598G > A p.(Val200Ile) variant in TKFC gene in the two affected index patients who deceased due to hypertrophic cardiomyopathy. Using computational analysis, we found that c.598G > A p.(Val200Ile) pathogenicity has led to the failure of L2-K1 active site closure due to the potential differential fluctuation between valine and isoleucine residues. Subsequently, disruption of endogenous DHA phosphorylation was found. Two potential mechanisms exploring the causative relationship between TKFC gene and multisystem disorders have been suggested. CONCLUSIONS: This study presented a first family with the co-existence of biallelic variants in TYR and TKFC genes associating severe skeletal abnormalities and lethal hypertrophic cardiomyopathy. Neither of these genes would have been pursued in the standard genetic counseling. Such discovery is paving the way for more efficient genetic counseling. Comparing TKFC results with literature data showed that our relevant expanded TKFC variant is the 3rd worldwide.

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

BACKGROUND: Myotonia Congenita (MC) is a rare disease classified into two major forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects muscle excitability and encodes voltage-gated chloride channels (CLC-1). While, there are no data regarding the clinical and molecular characterization of myotonia in Egyptian patients. METHODS: Herein, we report seven Egyptian MC patients from six unrelated families. Following the clinical diagnosis, whole-exome sequencing (WES) was performed for genetic diagnosis. Various in silico prediction tools were utilized to interpret variant pathogenicity. The candidate variants were then validated using Sanger sequencing technique. RESULTS: In total, seven cases were recruited. The ages at the examination were ranged from eight months to nineteen years. Clinical manifestations included warm-up phenomenon, hand grip, and percussion myotonia. Electromyography was performed in all patients and revealed myotonic discharges. Molecular genetic analysis revealed five different variants. Of them, we identified two novel variants in the CLCN1 gene ( c.1583G > C; p.Gly528Ala and c.2203_2216del;p.Thr735ValfsTer57) and three known variants in the CLCN1 and SCN4A gene. According to in silico tools, the identified novel variants were predicted to have deleterious effects. CONCLUSIONS: As the first study to apply WES among Egyptian MC patients, our findings reported two novel heterozygous variants that expand the CLCN1 mutational spectrum for MC diagnosis. These results further confirm that genetic testing is essential for early diagnosis of MC, which affects follow-up treatment and prognostic assessment in clinical practice.

How did the use of the social marketing approach in Egyptian communities succeed in improving breastfeeding practices and infants' growth?

INTRODUCTION: Improving breastfeeding practices does not always link to interventions relying only on improving nutrition awareness and education but needs cultural and behavioral insights . AIM: This study aimed to evaluate the changes in core breastfeeding indicators as a result of the use of social marketing (SM) approach for improving breastfeeding practices of Egyptian women and the physical growth of infants aged 6 to 12 months. The core breastfeeding indicators were: Early initiation of breastfeeding within one hour of birth, Predominant and exclusive breastfeeding to 6 months (EBF), Bottle feeding with formula, continued breastfeeding to 1 and 2 years, and responsiveness to cues of hunger and satiety. METHODS: A quasi-experimental longitudinal study with a posttest-only control design was done over 3 years in three phases; the first was in-depth interviews and formative research followed by health education and counseling interventions and ended by measuring the outcome. Motivating mothers' voluntary behaviors toward breastfeeding promotion "feeding your baby like a baby" was done using SM principles: product, price, place, and promotion. The interventions targeted 646 pregnant women in their last trimester and delivered mothers and 1454 women in their childbearing period. The statistical analysis was done by using SPSS program, version 26. RESULTS: Most mothers showed significantly increased awareness about the benefits of breastfeeding and became interested in breastfeeding their children outside the house using the breastfeeding cover (Gawn) (p < 0.05). Breastfeeding initiation, exclusive breastfeeding under 6 months, frequency of breastfeeding per day, and percentage of children who continued breastfeeding till 2 years, were significantly increased (from 30%, 23%, 56%, and 32% to 62%, 47.3%, 69%, and 43.5% respectively). The girls who recorded underweight results over boys during the first year of life were significantly improved (p < 0.01) after the intervention (from 52.1% to 18.8% respectively). At the same time, girls found to be obese before the intervention (15.6%) became no longer obese. CONCLUSIONS: Improvement for the majority of the key breastfeeding indicators and physical growth of infants indicates that raising a healthy generation should start by promoting breastfeeding practices that are respectable to societal norms.

Prevalence and risk factors of disabilities among Egyptian preschool children: a community-based population study.

BACKGROUND: Child disability has significant implications on their well-being and healthcare systems. AIM: This survey aimed to assess the magnitude of seven types of disability among Egyptian children aged 1 < 6 years and their socio-demographic, epidemiological, and perinatal predictors. METHODS: A national population-based cross-sectional household survey targeting 21,316 children from eight governorates was conducted. The screening questionnaire was derived from the WHO ten-question survey tool validated for identifying seven disability categories. RESULTS: The percentage of children with at least one disability was 8.1% as follows: speech/communication (4.4%), Mobility/physical (2.5%), Seizures (2.2%), Comprehension (1.7%), Intellectual impairment (1.4%), Visual (0.3%) and Hearing (0.2%). Age was not found to affect the odds of disability except for visual disability (significantly increased with age (AOR = 1.4, 95% CI:1.1-1.7). Male sex also increased the odds of all disabilities except visual, hearing, and seizures. Convulsions after birth significantly increased the odds of disability as follows: hearing (AOR = 8.1, 95% CI: 2.2-30.5), intellectual impairment (AOR = 4.2, 95% CI: 2.5-6.9), and mobility/physical (AOR = 3.4, 95% CI: 2.3-5.0). Preterm delivery and being kept in an incubator for more than two days after birth increased the odds for visual disability (AOR = 3.7, 95% CI: 1.1-12.1 & AOR = 3.7, 95% CI: 1.7-7.9 respectively). Cyanosis increased the odds of seizures (AOR = 4.7, 95% CI: 2.2-10.3). Low birth weight also increased the odds for all disability domains except for visual and hearing. Maternal health problems during pregnancy increased the odds for all types of disability except hearing and seizures. Higher paternal education decreased the odds for all disabilities by at least 30% except for vision and hearing. CONCLUSION: The study found a high prevalence of disability among Egyptian children aged 1-6 years. It identified a number of modifiable risk factors for disability. The practice of early screening for disability is encouraged to provide early interventions when needed.

National screening for Egyptian children aged 1 year up to 12 years at high risk of Autism and its determinants: a step for determining what ASD surveillance needs.

This study aimed to provide a national estimate of the prevalence of the high risk of autism spectrum disorder (ASD) and their determinants. A national screening survey was conducted for 41,640 Egyptian children aged 1 to 12 years in two phases. Tools used were Vineland's Adaptive Behavior Scales, Modified Checklist for Autism in Toddlers, Gilliam Autism Rating scale, and Denver II Developmental screening test. The overall prevalence of children at high risk of ASD was 3.3% (95% CI:3.1%-3.5%). Children living without mothers in homes, suffered from convulsions (AOR = 3.67; 95%CI:2.8-4.8), a history of cyanosis after birth (AOR = 1.87; 95% CI:1.35-2.59) or history of LBW babies (AOR = 1.53; 95% CI:1.23-1.89) carried higher odds of being at high risk of ASD.

A national screening for the prevalence and profile of disability types among Egyptian children aged 6-12 years: a community-based population study.

AIM: This study aimed to determine the prevalence of disability domains among Egyptian children in the age group of 6-12 years as well as assess their socio-demographic, epidemiological, and perinatal predictors. METHODS: A national population-based cross-sectional household survey targeting 20,324 children from eight governorates was conducted. The screening questionnaire was derived from the WHO ten-question survey tool validated for the identification of disabilities. RESULTS: The prevalence of children with at least one type of disability was 9.2%. Learning/ comprehension was the most prevalent type (4.2%), followed by speech/communication (3.7%), physical/ mobility and seizures (2.2% for each), intellectual impairment (1.5%), visual (0.7%), and hearing (0.4%). The commonest predictors for disabilities were children who suffered from convulsions or cyanosis after birth and maternal history of any health problem during pregnancy. However, preterm and low birth weight (LBW) babies or being admitted to incubators for more than two days were strong predictors for all disabilities except hearing disability. A history of jaundice after birth significantly carried nearly twice the odds for seizures (AOR = 2.2, 95% CI:1.5-3.4). History of difficult labor was a predictor of intellectual impairment (AOR = 1.5, 95% CI:1.1-2.0). A disabled mother was a strong predictor for all disabilities except seizures, while a disabled father was a predictor for visual and learning/ comprehension disabilities (AOR = 3.9, 95% CI:2.2-7.1 & AOR = 1.6, 95% CI:1.1-2.4 respectively). Meanwhile, both higher maternal and paternal education decreased significantly the odds to have, physical/ mobility and Learning/ comprehension by at least 30%. CONCLUSION: The study found a high prevalence of disability among Egyptian children aged 6-12 years. It spotted many modifiable determinants of disability domains. The practice of early screening for disability is encouraged to provide early interventions.

Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.

BACKGROUND: Early childhood life is critical for optimal development and is the foundation of future well-being. Genetic, sociocultural, and environmental factors are important determinants of child development. AIM: The objectives were to screen for suspected developmental delays (DDs) among Egyptian preschool children, and to explore the determinants of these delays based on sociodemographic, epidemiological, maternal, and child perinatal risk factors. METHODS: A national Egyptian cross-sectional developmental screening of a representative sample of preschool children (21,316 children) aged 12 to 71 months. The Revised Denver Prescreening Developmental Questionnaire (R-PDQ) followed by the Denver Developmental Screening Test, 2nd edition (DDST) was used. RESULTS: Each screened child manifested at least one of six developmental categories. Either typical development, gross motor delay (GM), fine motor adaptive delay (FMA), Language delay (L), Personal-social delay (PS), or multiple DDs. The prevalence of preschool children with at least one DD was 6.4%, while 4.5% had multiple DDs. Developmental language delay was the most prevalent, affecting 4.2% of children. The least affected domain was GM (1.9% of children). Boys were more likely to have DD than girls. Children in urban communities were more likely to have at least one DD than those in rural areas (OR = 1.28, 95%CI: 1.14-1.42), and children of middle social class than of low or high social class (OR = 1.49, 95%CI: 1.30-1.70 & OR = 1.40, 95%CI: 1.23-1.59 respectively). The strong perinatal predictors for at least one DD were children with a history of postnatal convulsions (OR = 2.68, 95%CI: 1.97-3.64), low birth weight (OR = 2.06, 95%CI: 1.69-2.52), or history of postnatal cyanosis (OR = 1.77, 95%CI: 1.26-2.49) and mothers had any health problem during pregnancy (OR = 1.73, 95%CI: 1.44-2.07). Higher paternal and maternal education decreased the odds of having any DD by 43% (OR = 0.57, 95% CI: 0.47-0.68) and 31% (OR = 0.69, 95%CI: 0.58-0.82) respectively. CONCLUSION: This study demonstrates a considerable attempt to assess the types and the prevalence of DD among preschool children in Egypt. Perinatal factors are among the most common determinants of DD in preschool children and the majority could be preventable risk factors.

Promoting weaning practices and growth of Egyptian infants by using communication for behavioral development approach.

BACKGROUND: Access to various affordable and nutritious foods is considered a challenging factor for households with limited resources affecting the proper weaning practices. In order to motivate communities to adhere to the right and proper weaning practices, the social aspect should be considered through close communication with the targeted communities. This study aimed to evaluate how impactful the use of the principles of Communication for Development (C4D) that respect parents' beliefs and their cultural norms is in improving the weaning practices and growth of infants in an Egyptian village. METHODS: An interventional three-phase study was conducted for three years. The intervention targeted 464 mothers of infants up to 2 years of age. C4D interventions encouraged each mother to provide her baby with nutritious and varied options through age-appropriate introduction and diversification of nutrient-rich complementary foods under the slogan " enjoy meals like a baby". The effectiveness of the approach was measured by five essential weaning practices: Introduction of solid, semi-solid, or soft foods, Minimum dietary diversity, minimum meal frequency, Minimum acceptable diet, and consumption of iron-rich foods. RESULTS: There was marked and significant improvement in the awareness and of the majority of the weaning practices' indicators as a result of the interventions. This was noticed for the timely introduction of complementary foods which increased from 36.7% to 82.0%, the minimum meal frequency indicator (3-5) which increased from 25.3% to 67.3%, iron-rich or fortified food (68.0% to 82%) as well as a regular checkup for baby health at the health unit (71.3%). Indicators that were improved but failed to achieve the target were the "Minimum Dietary Diversity" (reached 32%) and the minimum acceptable diet (reached 22.0%). A significant effect on linear growth especially for females is evidenced by the remarkable decrease in wasting (from 31.5% to 11.1%) and obesity (from 12.0% to 0%) associated with a considerable decrease in underweight (from 40% to 16.7%). CONCLUSION: Targeting caregivers through the C4D approach have succeeded in providing them with the support required for the provision of adequate nutrition for their infants that had significantly marked improvement in growth indices of their infants.

Strengths of community and health facilities based interventions in improving women and adolescents' care seeking behaviors as approaches for reducing maternal mortality and improving birth outcome among low income communities of Egypt.

BACKGROUND: Provision of emergency obstetric care is considered the key for maternal mortality reduction worldwide. This study evaluated the impact of community- and facility-based educational programs on provision of emergency obstetric care in Egypt. The study focused on evaluating utilization of the available health services and care seeking behaviors of mothers in the childbearing period. METHODS: We implemented a package of community- and facility-focused educational interventions in two of Egypt's lowest income governorates. At facility level, health professionals at rural health units from 21 villages over 5 years were trained. Mass media gathering, individual teaching at health facilities, printed materials and home-based care sessions were provided. Collectively, these interventions were designed to focusing on recognition of the early warning signs during pregnancy, delivery and postpartum period for timely referral to hospitals for 20,494 women and adolescents mothers. RESULTS: The impact of the interventions was highly reflected on the percent of mothers received care during their pregnancy period. Proper antenatal care at governmental or private health facilities was raised dramatically from 0.6 to 59.3% and those who utilized at least one family planning method from 61.4 to 74.4%. Accordingly, the rate of complications significantly reduced during pregnancy (38.1 to 15.1%), during delivery (24.1 to 13.1%) and during postpartum (81.7 to 7.0%). As an impact to the improvement, there was a marked reduction in adolescent pregnancy by 55% and better birth outcome with a reduction in the percent of stillbirth by 11.5%. CONCLUSION: It is important to provide a comprehensive package that works at both improving qualities of care as well as empowering women by knowledge to first aid measures at the community level. The cost-effective way to empower mothers to provide first aid measures as emergency obstetric care is to adopt the outreach approach which could be more influential than mass media campaigns for the at-risk and vulnerable and low-income communities.

Egyptians' social acceptance and consenting options for posthumous organ donation; a cross sectional study.

BACKGROUND: Organ donation has become one of the most effective ways to save lives and improve the quality of life for patients with end-stage organ failure. No previous studies have investigated the preferences for the different consenting options for organ donation in Egypt. This study aims to assess Egyptians' preferences regarding consenting options for posthumous organ donation, and measure their awareness and acceptance of the Egyptian law articles regulating organ donation. METHODS: A cross sectional study was conducted among 2743 participants over two years. Each participant was required to rank eleven consenting options from 1 (most preferred) to 11 (least preferred), and to report his awareness and acceptance of the seven articles of the Egyptian law of organ donation. RESULTS: 47% of the participants expressed willingness to donate their organs after death. This percentage increased to 78% when consenting options were explained to participants. "Informed consent by donor only" was the most preferred type of consent for one third of respondents. Awareness of the law articles regulating organ donation was relatively low ranging from 56% to 23%. CONCLUSION: Currently, around half of the Egyptian population agree to posthumous organ donation. This percentage could be increased significantly by raising the awareness about how the process of donation could be regulated and how the patient's right of decision could be protected.

Enhancing the value of women's reproductive rights through community based interventions in upper Egypt governorates: a randomized interventional study.

BACKGROUND: In 2012, the WHO described the quality of health care as the route to equity and dignity for women and children. AIM OF THE WORK: To provide community based support and empowerment to women in childbearing period to seek optimal prenatal, natal and postnatal healthcare. Achieving this is anticipated to decrease maternal morbidity and mortality in Egypt. SUBJECTS AND METHODS: An interventional study was conducted among women in childbearing period in the poorest two governorates of Upper Egypt. The study passed through three stages over three and a half years; pre-interventional assessment of awareness (n = 1000), educational interventions targeting the health providers and all women in childbearing period in their communities (n = 20,494), and post-intervention evaluation of change in awareness of their rights for prenatal, natal and postnatal care (no = 1150). RESULTS: The studied indicators relating to receiving care in pregnancy, labor, and puerperium have changed dramatically as a result of the study interventions. Results of the study showed that before interventions, the surveyed women had inaccurate knowledge regarding most of the items related to their rights. The percentages of women aware of their right to have pregnancy card increased and those who possessed a pregnancy card were doubled with a significant percent change of more than 25%. Some indicators showed more than 75% improvement, including; percent of surveyed women who knew that it's their right to follow up their pregnancy and to deliver with a specialized doctor, a trained nurse or at an equipped health facility, and those who knew their right to have at least two home preparations necessary for safe delivery at home. CONCLUSION AND RECOMMENDATIONS: More work is needed in order to achieve the targeted reduction of maternal mortality. This could be achieved by ensuring accessible and high quality care provided by the governmental health facilities together with increasing the awareness of women regarding their rights in receiving such care.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and cognition. The cerebellum might be involved at any time, either during development and maturation or later in life. Herein, we describe a spectrum of NDDs and NDs in seven patients from six Egyptian families. The core clinical and radiological features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, seizures, and cerebellar atrophy. Previously unreported clinical phenotypic findings were recorded. Whole-exome sequencing (WES) was performed followed by an in silico analysis of the detected genetic variants' effect on the protein structure. Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX, and other previously reported three variants have been detected in "TPP1, AGTPBP1, and PCDHGC4" genes. In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders.

National screening for developmental delays and their determinants among Egyptian school age children: A step towards implementing life skills programs.

AIM: This study aimed to estimate the national prevalence of developmental delays (DDs) and their determinants among Egyptian children aged 6 to 12 years. Such estimation is a prerequisite step toward the application of Life Skill Education (LSE) programs that will potentiate children's future capabilities. METHODS: Vineland Adaptive Behavior Scales" was used as a reliable and diagnostic test for DDs screening during this national cross sectional study. Gross motor (GM), fine motor (FM), daily living skills, communication, and socialization skills were assessed. The multivariate logistic regression analysis was used to identify factors associated with DDs. The Adjusted Odds Ratio (AOR) with a 95% Confidence Interval was estimated to indicate the strength of association. A p-value of <0.05 was used to declare statistical significance. RESULTS: Out of the 20324 surveyed school-aged children, 7.4% were found to have at least one delay. Communication deficits were the most common (6.4%) followed by delay in daily living skills (2.0%). The final model of logistic regression had a good fit for seven variables out of the sociodemographic, epidemiological characteristics, maternal and perinatal problems that were associated with a higher likelihood of at least one DD: Children suffering from any convulsions (AOR = 4.32; 95% CI: 3.18-5.88), male gender (AOR = 1.86; 95% CI: 1.65-2.09), birth weight less than 2.5 kg (AOR = 1.77; 95% CI: 1.40-2.24), history of maternal health problem during pregnancy (AOR = 1.64; 95% CI:1.34-2.01), children staying in an incubator for more than two days (AOR = 1.57, 95% CI: 1.29-1.91), having less educated fathers (AOR = 1.55, 95% CI: 1.24-1.95) and belonging to the middle social class (AOR = 1.40, 95% CI: 1.24-1.58). CONCLUSION: The identified types and determinants for each DD are allowing for the implementation of tailored programs for school children's life skills promotion for achieving the most sustainable effects on children's biological and psychological health and well-being.

A national prevalence and profile of single and multiple developmental delays among children aged from 1 year up to 12 years: an Egyptian community-based study.

OBJECTIVE: This study aimed at providing a national prevalence of single and multiple developmental delays (DDs) among 41,640 Egyptian children aged 1 to 12 years and exploring DDs' associated risk and protective factors. METHODS: A national household survey from eight governorates of Egypt representing the four major subdivisions of Egypt was conducted through systematic probability proportionate to size. All enrolled children were assessed according to Vineland Adaptive Behavior Scales, (VABS) as a reliable screening questionnaire for identifying categories of DDs that were verified by pediatrics' specialists. RESULTS: The overall prevalence of children with DDs was 6.7%. The prevalence of a single DD was 3.9% versus 2.8% multiple DDs. Communication deficit was the most prevalent type (5.3%). Lower prevalence was identified for fine motor delay (1.0%), gross motor delay, and socialization deficit (1.5% each). Whereas deficits in daily life skills (self-help and adaptive behavior delay) amounted to 2.3%. Living without mothers and/or fathers in homes was associated with increased odds of having DDs by one and a half times (OR = 1.72 and OR = 1.34 respectively). Multiple logistic regression analysis revealed the most predictors for DDs including children who suffer from convulsions after birth (OR = 3.10), low birth weight babies (OR = 1.94), male sex (OR = 1.75), mothers having health problems during pregnancy (OR = 1.70) and belonging to middle socioeconomic status (OR = 1.41). Children who suffered from cyanosis after birth was found to be at risk for any or multiple DDs. Difficult labor was significantly associated with increased odds for multiple DDs (OR = 1.55). Higher paternal and maternal education was associated with decreased odds to have any DDs by 40% (OR = 0.60 and OR = 0.58 respectively). CONCLUSIONS: The detected prevalence of DDs is within the estimated range of prevalence of DDs for the pediatric population. The majority of the detected risk factors are preventable. Developmental screening is recommended to be implemented in all primary care settings as a routine practice.

A comparison of the performance of normal middle social class Egyptian infants and toddlers with the reference norms of the Bayley Scales -third edition (Bayley III): A pilot study.

BACKGROUND: Developmental assessment is an important facility for early detection and intervention of developmental delay in children. Objective: to assess the performance of a sample of middle social class Egyptian infants and toddlers on Bayley Scales of Infant and Toddler Development-third edition (Bayley III), and to compare their cognitive, motor, and communication scores with that of the reference norms. METHODS: It was a cross-sectional pilot study, included 270 children aged 18-42 months. Mothers filled a questionnaire including questions about family socioeconomic background, perinatal history, and family history. Physical examination and growth assessment of children were performed. Developmental assessment of cognitive, language and motor skills was performed using the Bayley III scales and compared the American norm scores with the Egyptian mean scores. RESULTS: The mean cognitive, language and motor composite scores were 92.5+18.5, 91.76+ 15.6, and 95.67+18.9 respectively. All were lower than the American mean (100+ 15) with highly significant differences. About one-fourth of the enrolled Egyptian children had below-average composite scores according to the US cutoff point. The ranks of Egyptian children on the American versus the Egyptian percentile curves were significantly different. CONCLUSION: Mean values of all assessed developmental domains of Egyptian children are within the norm-referenced average of Bayley III, but lower than the recorded American mean. Assessing Egyptian children according to the American norms may result in overestimating developmental delay. This pilot study raised the question about using different cutoff points suitable for the developmental trajectory of Egyptian children. Answering this question needs further studies on Bayley-III after cultural adaptation and standardization, using a larger, more diverse, and representative sample of the Egyptian population.

Egyptian patients'/guardians' experiences and perception about clinical informed consent and its purpose: Cross sectional study.

BACKGROUND: Informed consent (IC) is a healthcare standard emphasizing the meaning of human dignity as clarified in the Universal Declaration of Human Rights. Data about IC practices in Egypt is insufficient. This study aimed to assess the Egyptian patients'/guardians' experiences about IC and their expectations about its practices' purposes in general and according to the type of the healthcare facility. METHODS: Self-administered questionnaire was carried out for 1092 participants who had undergone or were scheduled to a procedure requiring an IC at three studied types for Egyptian health care facilities. Ten statements were ranked twice by the participants to reflect their perception of IC purpose as per what is currently practiced and what they believe should be practiced. RESULTS: IC implementation varies significantly (p<0.05) across the health care facilities in Egypt. The percentage of its implementation at the non-governmental facilities, governmental facilities, and university hospital was 85.9%, 77.8%, and 63.8 respectively. The first three ranked purposes of the current IC practices were: "Helping patient/guardian decide (64.9%)", "Documenting patient's/guardian's decision (59.3%)", and "Having shared decision (57.3%)". The perceived purposes of IC to be practiced were: "Informing the patient/guardian (68.4%)", "Making sure patient/guardian understand (65.3%)" and "Documenting patients/guardians decisions (65.1%)". "Being a meaningless routine" was reported by the majority to be ranked as a low purpose for IC current and preferred practices. CONCLUSION: The practice of IC is common within the Egyptian medical community. Participants believe that information disclosure "Making sure patients understand" has to help in IC decision making and its main purpose. However, unfortunately, this is not perceived as a current purpose of IC. There was consensus agreement that documenting the patient's/guardian's decision and informing the patient/guardian are perceived as both important current and preferred purposes for IC practices.

Accelerating Hepatitis C virus elimination in Egypt by 2030: A national survey of communication for behavioral development as a modelling study.

AIM OF THE WORK: This study aimed at assessing the dominance of risk practices associated with HCV endemicity in Egypt and detecting the behavioral development level concerning different aspects of HCV risk behaviors with respect to age and gender. The survey highlights the most cost-effective strategies that could accelerate HCV elimination in Egypt. SUBJECTS AND METHODS: A national household survey targeted 3780 individuals (age range: 10-85 years). The sample was a systematic probability proportionate to size from 6 governorates representing the six major subdivisions of Egypt. The indicators used for assessing the behavioral development level towards HCV included six domains: awareness (7 indicators), perceived risk (5 indicators), motivation with the intention to change (4 and 5 indicators for males and females respectively), trial, rejection or adoption (6 and 5 indicators for males and females respectively). RESULTS: The study revealed that along the continuum of behavior development, the percentage of the participants who acquired half of the scores was as follows: 73.1% aware, 69.8% developed perceived risk, 80.6% motivated with only 28.9% adopting the recommended behaviors, 32% rejected them, 2.3% were in the trial stage versus 35.8% who did not try any. Adolescents had significantly lower levels of development for almost all domains when compared to adults. Statistical higher significance was detected in favor of adults, employees, married, Lower Egypt governorates, and university-educated participants (p<0.001) regarding awareness, perceived risk, and motivation scores. More than half of the participants incorrectly believed that contaminated food, sharing food utilities, contaminated water, mosquitoes, and schistosomiasis would lead to HCV transmission. CONCLUSION: Egypt would be closer to HCV elimination when cost-effective strategies are directed not towards creating awareness, perceived risk or motivation to change- (at an acceptable level)- but towards motivating adopting risk-reduction behaviors for HCV, tackling misconceptions and reinforcement of social support.

The Hep-CORE policy score: A European hepatitis C national policy implementation ranking based on patient organization data.

BACKGROUND: New hepatitis C virus (HCV) treatments spurred the World Health Organization (WHO) in 2016 to adopt a strategy to eliminate HCV as a public health threat by 2030. To achieve this, key policies must be implemented. In the absence of monitoring mechanisms, this study aims to assess the extent of policy implementation from the perspective of liver patient groups. METHODS: Thirty liver patient organisations, each representing a country, were surveyed in October 2018 to assess implementation of HCV policies in practice. Respondents received two sets of questions based on: 1) WHO recommendations; and 2) validated data sources verifying an existing policy in their country. Academic experts selected key variables from each set for inclusion into policy scores. The similarity scores were calculated for each set with a multiple joint correspondence analysis. Proxy reference countries were included as the baseline to contextualize results. We extracted scores for each country and standardized them from 0 to 10 (best). RESULTS: Twenty-five countries responded. For the score based on WHO recommendations, Bulgaria had the lowest score whereas five countries (Cyprus, Netherlands, Portugal, Slovenia, and Sweden) had the highest scores. For the verified policy score, a two-dimensional solution was identified; first dimension scores pertained to whether verified policies were in place and second dimension scores pertained to the proportion of verified policies in-place that were implemented. Spain, UK, and Sweden had high scores for both dimensions. CONCLUSIONS: Patient groups reported that the European region is not on track to meet WHO 2030 HCV goals. More action should be taken to implement and monitor HCV policies.

Potential Risk Factors of Developmental Cognitive Delay in the First Two Years of Life.

BACKGROUND: The first two years of life constitute a critical period of rapid change. The events during this phase prepare the child for subsequent developmental competency. AIM: To determine the potential risk factors that affect an infant's cognitive development in the first two years of life in a sample of Egyptian infants. SUBJECTS AND METHODS: A cross-sectional comparative study included 655 male and female infants. Their age ranged from 3 - 24 months. Bayley Scales of Infant and Toddler Development (Bayley III) were used for cognitive assessment. Perinatal and nutritional data were recorded. Levels of serum Zinc, Copper, Iron, vitamin B12 and complete blood count (CBC) were assessed in a subsample of 193 infants. RESULTS: Infants having below the average cognitive composite score (CCS) represented 38.47% of the whole sample. The risk of having a low average (CCS) was determined by multiple factors. Poor maternal education and low family income were the most significant social risk factors (OR = 2.19, p = 0.0003; OR = 1.64, p = 0.002 respectively). Prematurity and complicated labor represented significant perinatal risks (OR = 1.22, p = 0.005; OR = 2.39, p =0.001respectively). Bottle feeding versus breastfeeding in the first six months of life was the most significant nutritional predictor of low average (CCS) (OR = 1.79, p = 0.001). Infants with low average (CCS) had significantly lower levels of serum zinc and vitamin B12 than those with average scores. CONCLUSION: Multiple factors appear to interact affecting the early cognitive development of Egyptian infants. Prematurity, complicated labour, poor maternal education, low family income and micronutrient deficiency are the main risk factors. Studying these factors is of great value in directing governmental intervention efforts.

The Interaction of Social, Physical and Nutritive Factors in Triggering Early Developmental Language Delay in a Sample of Egyptian Children.

BACKGROUND: Language acquisition and child development during the early years of life depend on multiple interacting factors. AIM: To explore potential factors that can impact language development in 2 groups of Egyptian children, one with normal language development and the second with delayed development. Also, to explore to what extent can the involvement of impaired motor development potentiate the risk of developmental language delay. METHODS: This cross-sectional case-control study involved Egyptian children belonging to the middle socioeconomic class between 18 and 36 months of age. Children were classified according to their performance on language domain of Bayley Scales of Infant and Toddler Development (Bayley-III) into two groups, infants with the average or above score (control group) and those having below-average scores (cases). Motor development was assessed on the same scale. Factors affecting language development were tested, including socio-demographic, obstetric, and maternal medical factors in addition to Infant Feeding Practices. RESULTS: The independent factors lowering the language scores were early introduction of complementary food, low family income, history of delivery problems, pregnancy-related diseases of the mother, and maternal education. Impaired motor development appears as a further highly significant risk factor to the previously mentioned factors. CONCLUSION: In Egyptian children, delayed language development is severely affected by the interaction of medical, social and nutritional factors. Providing adequate maternal health care during pregnancy and childbirth, regular developmental monitoring at each child visit, and screening for such risk factors, can reduce size of the problem and promote child's social and psychological development.