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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.

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.

Background The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management of possible risk factors can diminish ASD incidence. Aim To determine the prevalence and severity of idiopathic ASD in Egyptian children aged 12 months to 12 years, and to identify the epidemiological, sociodemographic, and environmental risk factors contributing to this disorder. Methods This study comprised 41,640 children from the main eight geographic areas in Egypt. It was conducted through four phases: household screening, facility-based screening for high-risk children, diagnosis confirmation, and risk factor assessment. Results The prevalence of ASD as confirmed by the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Childhood Autism Rating Scale (CARS) was 1.1% (455 out of 41,640), with significant geographic variability. Urban areas had a significantly higher prevalence than rural areas. Children aged 3–6 years showed the highest prevalence at 1.5%. Boys were four times more affected than girls, with prevalence rates of 1.7% and 0.4%, respectively. Significant risk factors included: a history of convulsions (AOR = 4.7; 95% CI: 3.3–6.79), low birth weight (AOR = 2.08; 95% CI: 1.54–2.79), prolonged  stays in neonatal intensive care unit (NICU) longer than two days (AOR = 1.91; 95% CI: 1.46–2.49) and maternal health problems during pregnancy (AOR = 1.66; 95% CI:1.36–1.95). Regarding severity, 45% of diagnosed children had moderate ASD, 39% had severe ASD, and 16% had mild ASD. Female gender and older age were significant predictors of greater ASD severity. Conclusion ASD prevalence in Egypt is comparable to other Middle Eastern countries. Policymakers should utilize these findings to design targeted public health interventions aimed at early detection, management, and prevention of ASD progression.

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016–December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1 , VAMP1 , MCTP2 , and TBP ). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes ( ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1 ) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease ( AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most “negative” clinical exome tests are unsolved due to interpretation rather than technical limitations.

Background: Microarraybased Comparative Genomic Hybridization (a-CGH) has enabled wide investigation of the genome at high resolution and has been implemented in different centers as a clinical diagnostic tool. Chromosomal imbalances are implicated in the etiology of Developmental Delay (DD)/Intellectual Disability (ID)/Congenital Malformations. However, most of these cases may not be diagnosed by conventional cytogenetic techniques. We aimed to establish a-CGH technique and assess its potential as a diagnostic tool for chromosomal imbalances and to detect known and novel chromosomal aberrations in patients with DD/ congenital malformations. Materials and methods: A total of 75 patients presented with DD/ congenital malformations with or without ID were referred to the CEGMR for cytogenetic analyses. We used both conventional cytogenetic G-banding and Fluorescent in-situ hybridization techniques (FISH), besides we applied (array-CGH) high resolution Agilent scanner with 1X244 K array format in 25 samples and 2X400 K format in 50 samples. Results: Chromosomal aberrations were detected in 10/72 (13.8%) patients by G-banding technique and 4/50 (8%) by FISH technique, however, 17/72 (23.6%) were diagnosed by a-CGH technique. All micro-deletion syndromes and partial duplications were detected by the chromosomal microarray technique: (Del 15 (q11.2); Del 15 (q13-14); Del 22 (q11.2); Del 7 (q11.23); Del 18 (q21 q23); Del 1 (p36); del 21q21-q23, del 13q21-q31.3, del 11q24.2-q25, and duplications in: dup 18p (p11.21); dup 15 (q11 q23); dup 18 (q23). However, one patient with unbalanced translocation could not be detected by this technique. The increase in the CNVs number detected by a-CGH needs further investigation for contribution to phenotypes. Conclusions: Our results indicate the strength of high resolution genomic arrays in diagnosing cases of unknown etiology and in detection of contiguous genomic alterations in the wide spectrum of cases with DD/ID/congenital malformations.

Background: Down syndrome, the most common birth defect, is caused by trisomy 21. The aim of this study was to investigate whether quantitative real-time PCR can be used as a sensitive technique for prenatal diagnosis of Down syndrome. Methods: We used a quantitative real-time PCR technique to measure the gene dosage of the Down syndrome critical region (DSCR3) by calculating the ratio of DSCR3 to GAPDH using standard curves. Sex-determining region Y was simultaneously detected by real-time PCR to identify the sex of the fetus. Results: The DSCR3/GAPDH ratio of the trisomy 21 fetus samples and that of normal controls was 0.72 ± 0.34 and 0.54 ± 0.18, respectively. Conclusion: In this study, there was no significant difference in the DSCR3/GAPDH ratio between the fetal and peripheral blood DNA samples of trisomy 21 fetuses and those of normal controls.