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Background The nutritional status and growth of children with Autism spectrum disorders (ASD) is influenced significantly by two factors; food selectivity behaviors due to their consumption of a limited variety of food and the high incidence of gastrointestinal (GIT) disorders. Aim This study aimed to assess the nutritional adequacy and growth pattern of ASD children aged three to twelve years compared to their healthy developing peers. Methods A national comparative, facility-based cross-sectional study was conducted in eight Egyptian governorates on 285 Egyptian children diagnosed with ASD and 224 children who are their relatives as healthy developing peers. Anthropometric measurements were obtained, including weight, height, head circumference, and mid-upper arm circumference. Body Mass Index (BMI) was calculated and all numbers were plotted on WHO growth charts. Assessment of food preferences, and nutrient intake adequacy of children was done using the Food preference questionnaire, and the Dietary Reference Intakes (DRIs) of Egyptian children. Results Calorie-dense food and sugar intake were higher among ASD children than their healthy developing peers. ASD children omit some important protein sources such as dairy (COR = 5.2, 95% CI:2.7–9.9), meat, and poultry (COR = 2.7, 95% CI: 1.6–4.7), and a lower intake of fruits and vegetables than their healthy developing peers. For children with ASD in all age groups, a deficiency in the range of 50–60% was detected for vitamins (C, D, B6, thiamine, riboflavin, niacin) and minerals (iron). A deficiency in the range of 60–70% was detected for folate and calcium. A deficiency of vitamin C calcium and iron was also detected for both children with ASD and their healthy developing relatives aged 6 to 12 years. GIT disorders were common among ASD children compared to healthy developing peers (COR = 2.8 to 10.3). Children with ASD had four-fold higher odds of stunting (COR = 4.1, CI: 1.7–10.1), threefold higher odds of being overweight (COR = 3.3, CI: 1.48–7.32), and nearly eleven-fold higher odds of obesity (COR = 11.4, CI: 4.05–32.17) compared to their healthy developing peers. Conclusion ASD children are prone to overweight and protein malnutrition. Their intake of fruits and vegetables is inadequate and hence their intake of vitamins and minerals is insufficient, contributing to stunting.

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.

Background Autism spectrum disorder (ASD) is a genetically inherited, complex neuropsychiatric developmental condition that impacts a person's ability to learn, interact, and communicate. ASD is currently classified as a heterogeneous disorder, given that the pathophysiology of ASD is yet unknown. The GRIK gene family (GRIK1, GRIK2, GRIK3, GRIK4, and GRIK5) has genetic variants associated with many psychiatric illnesses including; depression, obsessive–compulsive disorder, and autism. The present study is the first to determine the possible association of GRIK1 rs363598 and intergenic rs360932 variants with susceptibility to ASD in Egyptian children and to correlate these variants with different parameters. Subject and methods One hundred children with ASD and one hundred volunteer healthy children served as control group were enrolled. Clinical parameters were measured. The genotyping method was performed in all children using the Tetra-primer Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) technique. Results ASD cases were mainly associated with males (77%) than females (23%) ( p  = 0.014) with lower IQ than the healthy group. The mean score on the Childhood Autism Rating Scale (CARS) was 39.40 ± 6.25. Interestingly, the genotype of the rs360932 SNP showed a significant difference in distribution between the ASD patients and the healthy control group (OR = 2.84, 95% CI = 1.29–6.35, P  = 0.008); the genotype (AG) was substantially associated (90%) with ASD. Conversely, no discernible variation was seen in the distribution of the rs363598 SNP (OR = 3.19, 95% CI = 0.83–12.1, P  = 0.07). Furthermore, the distribution of alleles for both variations did not differ significantly between the group of people with ASD and the healthy group. Conclusions Egyptian children's increased risk of developing ASD is highly correlated with the rs360932 variation. Future research on other SNPs and genes linked to ASD may benefit from this study's increased chances of examining these topics.

Lysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome. Deficiency of this enzyme encoded by the lipase A (LIPA) gene leads to LAL deficiency (LAL-D). A severe disease subtype of LAL-D is known as Wolman disease (WD), present with diarrhea, hepatosplenomegaly, and adrenal calcification. Untreated patients do not survive more than a year. The aim of this study was to assess the clinical and molecular characterizations of WD patients in Egypt. A total of seven patients (from five unrelated Egyptian families) were screened by targeted next-generation sequencing (NGS), and the co-segregation of causative variants was analyzed using Sanger sequencing. Furthermore, multiple in silico analyses were performed to assess the pathogenicity of the candidate variants. Overall, we identified three diseases causing variants harbored in the LIPA gene. One of these variants is a novel missense variant (NM_000235.4: c.1122 T > G; p. His374Gln), which was classified as a likely pathogenic variant. All variants were predicted to be disease causing using in silico analyses. Our findings expand the spectrum of variants involved in WD which may help to investigate phenotype-genotype correlation and assist genetic counseling. To the best of our knowledge, this is the first clinico-genetic study carried out on Egyptian patients affected with WD.

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. 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. 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). 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.

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.

Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31-2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy-Weinberg equilibrium (HWE). Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.

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.

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, 2 nd 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.

Background Inherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially in children. While next-generation sequencing (NGS) has enhanced IKD diagnosis, data from consanguineous populations, where autosomal recessive inheritance is more common, remain limited. Aim This study aimed to identify genetic variants associated with IKDs, primarily from consanguineous Egyptian families, using targeted next-generation sequencing (NGS). It further assessed genotype–phenotype correlations and explored clinical implications for early diagnosis, familial screening, and disease management. Methods Twenty-six Egyptian patients clinically suspicion with IKDs were enrolled. Targeted NGS was conducted using a gene panel associated with IKDs. Variants were classified per American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was performed when possible. In silico tools, including VarSome, I-Mutant 2.0, and GeneMANIA, were used to predict variant pathogenicity, protein impact, and gene–gene interactions. Results Seventeen distinct variants were detected in 12 genes, including six novel mutations. Alport Syndrome was the most frequent disorder, with COL4A3 and COL4A5 mutations predominating. A novel COL4A3 variant (c.3926C > A) was identified, reinforcing the role of collagen gene mutations. FREM1 variants, including two novel ones, were linked to syndromic IKDs. AGT and ACE variants were associated with renal tubular dysgenesis, while PKD1 and PKHD1 mutations indicated both dominant and recessive polycystic kidney disease. High consanguinity supported autosomal recessive patterns. Conclusions This study expands the mutational spectrum of IKDs in an underrepresented population and highlights the utility of targeted NGS in guiding early diagnosis, genetic counseling, and personalized management in high-risk, consanguineous populations.