Positive Consanguinity Research Articles

Epidemiological and Clinical Characteristics of Children Suffering from Inflammatory Bowel Diseases Attending Zagazig University Children Hospital

Background: Inflammatory bowel disease (IBD) includes ulcerative colitis (UC) and Crohn's disease (CD). It is a chronic inflammatory disease that involves the gastrointestinal tract and results from a combination of genetic susceptibility, environmental exposure, and dysregulated responses to the intestinal microbiota. Objective: To study the natural history, patterns, and clinical characteristics of inflammatory bowel diseases (IBD) in Sharkia Governorate. Patients and Methods: The study was carried out in the Pediatric Hepatology and Gastroenterology Unit, at Zagazig University Hospital on a comprehensive sample of all children suffering from inflammatory bowel diseases that were included in the study (18 patients). We do retrospectively study all patients in whom the diagnosis of UC or CD was confirmed by clinical, laboratory, endoscopic, and histological examination in Zagazig university children hospital. Results: There is a predominance of UC among IBD cases. positive consanguinity was more evident in children with IBD (44.4%). According to sex the percentage of females (55.6%), male (44.4%). Percentage chance of gastrointestinal symptoms among the studied cases is diarrhea (83.3 %), mucus or blood in the stool (83.3%), Abdominal pain (66.7%), vomiting (44.4%), loss of appetite (38.9%), Nausea (38.9 %), Rectal bleeding (27.8%) and anoperineal lesion (22.2%). The Endoscopic finding of Crohn's disease showed a percentage of L1 (distal 1/3 ileum ± limited cecal disease) in (33.3 %) and L2 (Colonic) in (66.7%). Conclusion: UC was more common than the CD. IBD was more common in females. We believe that the present moment is critical in assessing the pattern of IBD spreading in Egypt, and the current status should be further studied by more exhaustive database and registry documentation of IBD patients and their characteristics.

Cochlear implant – experience and analysis of consecutive cases done in the Hearing and Speech Institute over a period of three months

Purpose The aim was to analyze demographic and perioperative data of patients who underwent cochlear implantation (CI) at the Hearing and Speech Institute in the period between November 2019 and January 2020. Materials and methods Files of all patients undergoing CI in the period between November 2019 and January 2020 were collected used a specially designed checklist to record demographic, preoperative, operative, and early postoperative data. Data were recorded and analyzed using proper statistical analysis. Results Of 80 files reviewed, the data of 73 files were included. Average age was 4.3 ± 3.3 years, and 41 (56.2%) of them were males. Positive consanguinity was seen in 37 (50.7%) cases, positive family history was seen in 29 (39.73%), 13 (17.8%) cases had wide vestibular aqueduct, four (5.5%) cases had auditory neuropathy, and two (2.74%) cases had intracochlear anomalies. The average operative time was 85 ± 24 min. A total of 66 (90.4%) right ears were operated on. Difference in the operative time between wide vestibular aqueduct cases and normal cases was insignificant, whereas difference between right vs left ear operative time was significant. Early complications were reported in seven (9.6%) cases, and majority were partial facial palsy (5.5%). Conclusion Condensed CI work is possible in suitable environment of team discipline and adequate equipment, with comparable performance and outcome. In addition, it provides favorable conditions for training new surgeons.

Evaluation of Fetal Echocardiography as Antenatal Diagnostic Tool in Detection of Congenital Heart Diseases

Congenital heart diseases (CHDs) are one of the most common fetal malformations; the aim of the present study was to assess the role of fetal echocardiography in diagnosis of CHDs. The prenatal diagnosis of CHDs has been shown to have a significant effect on prenatal and postnatal management and outcomes. The current prospective study included 80pregnant women; detailed fetal echocardiography was performed according to International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines [1]. In this study the range of gestational age was between 20 – 35 weeks, (57.5%) were males and (42.5%) were females, 48 CHDs (60%) were detected in the low risk group and 32 (40%) were found in the high risk group, we found the most frequent risk factors for CHDs was positive parental consanguinity in (18 cases), multiple risk factors were found in (14 cases), there was insignificant correlation between mother age, fetal age and presence of risk factors. Our results showed that 20% of cases had associated ECAs, while 80% of cases had no associated ECAs. The most frequent CHDs encountered in our study was isolated VSDs (10%). Complete agreement was found in (85%) of cases between prenatal and postnatal echo findings. It is concluded that due to the high frequency of CHDs within the low risk pregnant females, we suggest that basic fetal echocardiography should be done for all pregnant women regardless the presence of risk factors.

Can parental consanguinity be a risk factor for the occurrence of nonsyndromic oral cleft?

BackgroundThe cleft lip with or without palate is the most common congenital craniofacial anomaly, presenting prevalence that varies between different ethnicities. It presents a complex and multifactorial etiology which involves genetic and environmental factors. Regarding family history, some studies have observed a significant association among parental consanguinity and orofacial clefts. AimsTo investigate if there is an association between parental consanguinity and the occurrence of oral cleft in the offspring. Study designRetrospective, cross-sectional, quantitative case-control study. Subjects: Case group - parents of subjects with nonsyndromic oral cleft (n = 746). Oral cleft was classified in the following group: cleft lip only - CLO (complete or incomplete, unilateral or bilateral); complete cleft lip and palate - CLP (unilateral or bilateral); and, cleft palate only - CPO (complete or incomplete). Control group - parents of subjects without clefts or other anomalies (n = 502), totaling 1248 subjects. Outcome measuresFisher's exact test was used to compare the consanguinity rates observed between the two groups (p < 0.05 for statistically significant differences). ResultsA positive consanguinity rate of 2.68% was observed in the case group and 0.79% in the control group. This difference found between the groups was statistically significant (p = 0.02). The most frequent degree of kinship in cases of consanguineous marriages, in both groups, was between first cousins. The most frequent types of clefts in the offspring were also the cleft palate only and the cleft lip only. ConclusionIn the study population, parental consanguinity was associated with the occurrence of nonsyndromic oral cleft, and may be considered an isolated risk factor in this population.

Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.

Congenital chloride losing diarrhea (CCLD) is a rare type of chronic watery diarrhea due to mutations in SLC26A3 gene leading to defective chloride–bicarbonate exchanges with the resultant loss of chloride and retention of bicarbonate.We aim to define pediatric Saudi CCLD patients’ characteristics to achieve prompt diagnosis, management, follow up with good quality of life, and prevention of complications in these patients.We carried retrospective data review of demographic, clinical, laboratory, radiographic, and outcome of all pediatric patients fulfilling the criteria of CCLD over 10 years from 2004 to 2014 from a single center in Taif region, Saudi Arabia.Forty-nine patients fulfilled the criteria of CCLD from 21 families with more than one affected patient in the same family in 90% of them and positive consanguinity in 91% of the cohort. Most patients were born preterm with intrauterine growth restriction and usually neonatal intensive care unit (NICU) admissions with prematurity and its complications. Thirteen patients were discharged without diagnosis of CCLD and 3 were misdiagnosed as intestinal obstruction with unnecessary surgical intervention. Many complications do existed with renal complications being the most common with three patients received renal transplantation.Prematurity with abdominal distension and stool like urine were the commonest presentation of CCLD in Saudi children. Positive consanguinity and more than one affected sibling are present in most of our cohort.High index of suspicion by clinicians is a cornerstone for early diagnosis with subsequent favorable outcome.A multicenter national incidence study of CCLD in KSA and its genetic attributes is recommended. Premarital screening should be implemented specially for consanguineous marriage.

Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.

To identify CYP1B1 gene mutations and evaluate their possible role as a prognostic factor for success rates in the surgical management of Egyptian congenital glaucoma patients. Totally 42 eyes of 29 primary congenital glaucoma patients were operated on with combined trabeculotomy/trabeculectomy with mitomycin-C and followed up at 1d, 1wk, 1, 6 and 12mo postoperatively. Genomic DNA was extracted from peripheral blood leukocytes. Coding regions of CYP1B1 gene were amplified using 13 pairs of primers, screened for mutations using single-strand conformation polymorphism followed by sequencing of both strands. Efficacy of the operation was graded as either a success [maintaining intraocular pressure (IOP) less than 21 mm Hg with or without anti-glaucoma medication], or a failure (IOP more than 21 mm Hg with topical antiglaucoma medications). Seven novel mutations out of a total of 15 different mutations were found in the CYP1B1 genes of 14 patients (48.2%). The presence of CYP1B1 gene mutations did not correlate with the failure of the surgery (P=0.156, odds ratio=3.611, 95%CI, 0.56 to 22.89); while the positive consanguinity strongly correlated with failure of the initial procedure (P=0.016, odds ratio=11.25, 95%CI, 1.57 to 80.30). However, the Kaplan-Meier survival analysis revealed a significantly lower time of IOP control in the subgroup with mutations in CYP1B1 versus the congenital primary glaucoma group without mutations (log rank test, P=0.015). Seven new CYP1B1 mutations are identified in Egyptian patients. Patients harboring confirmed mutations suffered from early failure of the initial surgery. CYP1B1 mutations could be considered as a prognostic factor for surgery in primary congenital glaucoma.

Risk Factors for Neonatal Mortality in Neonatal Intensive Care Units in Tanta City

Background: Neonatal period is the weakest period of life as it causes high rates of morbidity and mortality due to various diseases, especially in preterm infants and those with low birth weight. Aim of the present study: assessment of the risk factors and incidence of neonatal mortality in neonatal intensive care units in Tanta city. Subjects and Methods: Multi-centric prospective Cohort study that was conduct in Neonatal Intensive Care Units in Tanta city (5 public centers and 10 private centers). The duration was 6 months from August 2017 to January 2018. Results: Incidence of neonatal mortality among the studied sample during a period of six months was 27.7%. The most common cause of neonatal deaths was prematurity (39.4%). Cesarean section was the highest maternal risk factors (64.3%) among the study sample. Positive consanguinity was found in 52% and had statistically significant on neonatal mortality. There was no statistically significant difference between survived and expired neonates, while gestational age and birth weight were statistically significant. Neonatal mortality was higher between lower gestational age and lower birth weight. Conclusion: Neonatal mortality rates were found to be significantly high in prematurity, low gestational age, low birth weight, cesarean section and positive consanguinity. Improvement of health care qualities is needed to control the preventable risk factors and decrease neonatal morality.

Risk Factors for Neonatal Mortality in Neonatal Intensive Care Units in Tanta City

Background: Neonatal period is the weakest period of life as it causes high rates of morbidity and mortality due to various diseases, especially in preterm infants and those with low birth weight. Aim of the present study: assessment of the risk factors and incidence of neonatal mortality in neonatal intensive care units in Tanta city. Subjects and Methods: Multi-centric prospective Cohort study that was conduct in Neonatal Intensive Care Units in Tanta city (5 public centers and 10 private centers). The duration was 6 months from August 2017 to January 2018. Results: Incidence of neonatal mortality among the studied sample during a period of six months was 27.7%. The most common cause of neonatal deaths was prematurity (39.4%). Cesarean section was the highest maternal risk factors (64.3%) among the study sample. Positive consanguinity was found in 52% and had statistically significant on neonatal mortality. There was no statistically significant difference between survived and expired neonates, while gestational age and birth weight were statistically significant. Neonatal mortality was higher between lower gestational age and lower birth weight. Conclusion: Neonatal mortality rates were found to be significantly high in prematurity, low gestational age, low birth weight, cesarean section and positive consanguinity. Improvement of health care qualities is needed to control the preventable risk factors and decrease neonatal morality.

Factors influencing the outcome of goniotomy and trabeculotomy in primary congenital glaucoma

PurposeTo study the prognostic factors influencing intraocular pressure (IOP) reduction and success rates of paediatric goniotomy and trabeculotomy.PatientsData from patients aged ≤12 years who underwent goniotomy or trabeculotomy for primary...

A cross-sectional study of complications in children with glycogen storage disease: a single-center study

Background Glycogen storage diseases (GSDs) are a heterogeneous group of metabolic disorders that result from the deficiency of particular enzymes implicated in glycogen metabolism. Identification of the exact diagnosis is essential, as there are different treatments, complications, and natural histories for the various kinds of this disorder. However, with the lack of molecular and enzymatic assay owing to unaffordable cost, we aimed to investigate children diagnosed with GSD for detection of disease-related complications. Patients and methods This cross-sectional observational study included 43 children diagnosed as having GSD based on liver biopsy, with emphasis on the possible associated complications despite the lack of molecular subtyping. Patients were selected from the outpatient clinic of Hepatology Unit of Mansoura University Children’s Hospital during the period from February 2016 to December 2018. Results A total of 27 (62.8%) patients were males. Their age ranged from 1 to 18 years and median value was 7 years. Positive consanguinity was present in 26 (60.5%) cases. Overall, 46% showed delayed puberty. Thirty-five children developed complications in the form of type I diabetes mellitus in one (2.3%), chronic kidney disease in two (4.7%), osteopenia in 24 (68.5%), delayed motor development in 21 (49%), and cardiomyopathy in five (11.6%). Conclusion Development of complications in pediatric patient with GSD can occur even with the strict diet control. Anticipation of complications and regular checkup of their occurrence is mandatory to prevent their progression and allow prompt management.

Four Cousins with Hypospadias, Is It Familial or Environmental? (Case Report)

Hypospadias is one of the most common birth defects. However, its etiology remains largely unknown. Genetic and also intrauterine environmental factors have a principal role in causing familial hypospadias. Hypospadias repair is done through several techniques, one of which is Snodgrass technique which has many advantages. The 4 cousins underwent repair with no complications during 6 months follow up period. Methods: Urethroplasty using Snodgrass hypospadias repair of 4 cousins with positive parental consanguinity and absent family history of hypospadias. Results: 4 cousins underwent Snodgrass (Tubularized incised plate urethroplasty) with no complications after 6 months follow up. Conclusion: Although there is high heritability of hypospadias that also aggregates within second- and third-degree relatives, environmental factors may play a principal role in causing familial hypospadias. Hypospadias repair has a long learning curve. The continuous auditing should be done to improve the results.

Werner Syndrome: A Case Report of Two Brothers of Pangeria

Werner syndrome is considered inherited premature ageing and genomic instability syndrome. It is an autosomal recessive disorder in which aging process is accelerated starting after puberty. It is also termed as Progeria adultorum. The hallmark features are short stature, senile facies, scleroderma like skin (dry atrophic skin, mottled darkness, telangiectasia, sclerodactyly, and gangrene), cataract, hypogonadism, contractures of skin over joint, premature atherosclerosis, loss of subcutaneous fat and ulcers over feet and leg. Treatment of painful ulcers is difficult with increased risk of malignancy (fibro sarcoma in 10% of patients). Death is usually occurring in the fourth to sixth decade due to myocardial infarction or malignancy. We reported 2 brothers of Pangeria of positive consanguinity parents the older is 40 years old, short stature, senile facies with bilateral hip joint replacement, chronic leg ulcer, bilateral cataract extraction and the younger is 35 years old, short stature, senile facies, infertile, previous cataract extraction with bone deformity. The later presented to us in outpatient clinic, Internal Medicine department, Tanta university Hospital, Egypt for preoperative assessment for cataract operation. We admit the patient to investigate him and to confirm our provisional diagnosis as regard Werner syndrome. As no definite treatment for this disorder and death usually occurs in the fourth to sixth decade, early diagnosis and follow up is beneficial and screening for malignancies and associated diseases should be performed regularly.

Audiological profile of children with hearing loss in Upper Egypt

Objective: Identification of risk factors for hearing loss may help in primary prevention of hearing loss so this research aiming to study what is the most common causes and risk factors for hearing loss in upper Egypt and to study if this factors correlated to geographic distribution of the province.Patients and Methods: Two-hundred children with age range from 3yrs to 15yrs, were examined in two governorates , Minia in the north of upper Egypt and 50 children were examined in south of upper Egypt, Aswan, and the remaining 50 normal children from both governorates. All children were subjected to the following: Thorough history, full audiological evaluation.Results: Consanguinity was the most common risk factor about 60% of cases with sensorienrual hearing loss. Jaundice is the 2nd most common cause. When the consanguinity become more close, the degree of hearing loss increase. The incidence of consanguinity increase in south country more than north due to social habits and believes about consanguinity. The most surprising and interesting finding that, hearing loss was not common in old generation as the new generation which may reflect gene mutation.Conclusion: Consanguinity is the most common risk factor for hearing loss. Public awareness of this fact and this research may help in primary prevention of hearing loss which will be more cost effective than neonatal screening or even to minimize and restrict the cost of neonatal screening for children with positive consanguinity.

Factors associated with early and late failure after goniotomy for primary pediatric glaucoma

To analyze the risk factors associated with early and late failure after goniotomy for primary pediatric glaucoma. A retrospective study was done on infants who underwent goniotomy as the initial surgical procedure for primary pediatric glaucoma, and had a follow-up period ⩾48 months after surgery. Early and late failures were defined as intraocular pressure ⩾18 mmHg or signs of glaucoma progression before and after the end of first year, respectively. A total of 81 eyes of 47 children were included. The mean age at the time of surgery was 6.1 ± 6.7 months, 34 children (72.3%) were bilateral. The mean follow-up was 5.9 ± 2.8 years. Of the included eyes, 41 eyes (50.6%) showed success, 25 eyes (30.9%) showed an early failure, and 15 eyes (18.5%) showed a late failure. The mean survival time was 43 months. However, only surgery before the end of the first month and positive consanguinity of the parents (P < 0.01 for both) were independent risk factors for early and late failure of goniotomy for primary pediatric glaucoma. Patients with late failure showed a statistically significant lower preoperative intraocular pressure (P = 0.02). A larger preoperative corneal diameter and a male gender were associated with higher but statistically insignificant failure rates. There were no differences in the early or late failure rates between unilateral and bilateral cases. A positive consanguinity of the parents and surgery before the end of the first month are the major predictors of failure of goniotomy.

Pattern and Outcome Of Infantile Spasms in Sohag University Hospital :A reterospective study

Background: Infantile spasms (IS) are a unique form of seizure disorder that their occurrence is almost entirely limited to infancy (the first year of life) and they are refractory to conventional anticonvulsant drugs. IS usually are associated with developmental retardation or deterioration and a characteristic electroencephalographic (EEG) pattern (hypsarrhythmia) that together form a syndrome . IS involves a sudden, generally bilateral and symmetric contractions of muscles of the neck, trunk, and extremities. Patients with IS can be classified into focal IS and diffuse groups. Objective: Our main objective in this study is to evaluate the clinical profile, laboratory data, and outcome of children having infantile spasms in Sohag University Hospital. Methods: This retrospective study was conducted on 540 patient (mean age 8.4 ± 6.9 months.: ) from December 2015 to November 2016 in neuropediatric outpatient Clinic, Pediatric department at Sohag University Hospital. Detailed clinical data of the patient, Investigation done for the patient including the neuroimaging (MRI or CT) , EEG pattern, basic metabolic studies , serum enzymes and Karyotyping were retrospectively collected from files and records . Results: In this study ; ( 66.1%) of cases were males.(33,9% ) of cases were females ,mean age of presentation (8.4± 6.9 months). Positive consanguinity was found in (7.6%) of cases. (79.2%)of cases presented with flexor spasms, (8.9%) with extensor spasms and (11.9%) with mixed spasms . (8%) of cases were idiopathic, (13.5%) of cases were cryptogenic and (78.5%) of cases were symptomatic,(15.2%) of cases showed favorable outcome, and (84.8%) cases showed unfavorable outcome, of them (11.5%) of casesdeveloped othertype of seizures, (54.3%) of caseshad mental retardation, (28.8%) of cases diedand (5.2%) of cases had autistic features . In univeriate analysis (symptomatic) etiology (P= <0.001, OR= 4.7) and absence of primary control of infantile spasm (P= <0.001, OR= 18.3), and frequency of spasm (P= <0.017, OR= 1.8) were significantly related to unfavorable outcome. In Multiple variable analysis primary response to treatment(odd ratio=16.9,P-value=<0.001), etiology(symptomatic)(odd ratio=3.2,P-value=0.002) significantly associated with unfavorable outcome . Conclusion: . Infantile spasms was common. it occured in males more than females with ratio of 1.9:1; the majority of cases were in the age range 1-12 months. flexor spasms was more common than extensor, mixed type of spasms. Symptomatic type was most common than cryptogenic, idiopathic. long-term neurodevelopment outcomes for children with IS had several factors, including symptomatic etiology, abnormal development at the time of diagnosis, poor response to initial treatment. . Study Limitation: Patient presented less than 2 months or above 2years

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms. to evaluate clinical presentations and outcome of infantile cystinosis. A retrospective cohort study conducted in Sulaimani Pediatric Teaching Hospital on 25 patients with infantile cystinosis during May 1, 2014, to June 1, 2017. This study has depended on clinical symptoms and signs, and corneal crystallization for the diagnosis of cystinosis. Gender of the patients was 13 (52%) females and 12 (48%) males. The ages were ranged between (1-12 years) with a mean age of (6.25 years). Eight (32%) patients were from Sulaimani city, but the other 17 (68%) patients were from outside of Sulaimani. Moreover, a 17 (68%) of them were Arabic and the other eight (32%) were Kurdish ethnic groups. The study showed a 20 (80%) positive consanguinity with 19 (76%) positive family history of infantile cystinosis. Additionally, the age of first presentations was between (0.25-2 years) with a mean of (0.8 years). Clinical features included a 100% for polyuria, polydipsia, and failure to thrive. Furthermore, 10 (40%) presented with constipation, 23 (92%) photophobia and 5 (20%) blond hair. Complications included 24 (96%) rickets, 14 (56%) renal insufficiency, 5 (20%) hypothyroidism, 4 (16%) genu valgum, 3 (12%) growth hormone deficiency, and 3 (12%) developed end-stage renal disease. Subsequently, two patients died (8%) due to end-stage renal disease. Finally, there was a statistically significant relationship between both renal insufficiency (P-value = 0.042) and hypothyroidism (P-value &lt; 0.001) with Kurdish ethnicity. Conclusion: Incidence of cystinosis was high among consanguineous parents and those patients who had a positive family history of cystinosis. Furthermore, the delay in diagnosis was due to atypical presentations and unavailability of specific investigations.

Immunological Evaluation in Patients with Familial Mediterranean fever

OBJECTIVE:This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients.PATIENTS AND METHODS:A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study. They were 13 males and 19 females; their age ranged from 2 to 17 years old. Normal healthy subjects within the same age and sex range were included as a control group. Complete blood picture was done for all cases, and neutrophil/ lymphocyte ratio was calculated. Flow cytometer analysis was done for CD3, CD4, CD8, CD19 and CD16 using monoclonal antibodies. Immunoglobulins IgG, IgA and IgM were estimated in serum using nephelometry.RESULTS:Positive consanguinity was present in 20 patients (47.6%). Abdominal pain was the most common manifestation followed by fever, arthritis, and red rash. CD3, CD4 and CD8 were statistically increased in patients group as compared to normal control group, while CD16 was statistically decreased.CONCLUSION:The study suggests that quantitative measurement of CD expressions of CD3, CD4 and CD8 as well as NLR might be used as valuable markers for subclinical inflammation in FMF.

Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.

Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate. Sampling for AGXT gene mutation was collected from April 2012 to December. 2015. Among the 53 children included, males composed of 62.3% of patients. Their age at presentation ranged between two months and 20 years with a mean age of 55.4 ± 48 months. The parents of 81.1% of these patients had positive consanguinity. Forty (75.5%) patients were from South West (mountain area), and 16 (40%) of them were from Yefrin. The most common mutation found in this study was c.731T>C (p.lle244thr) seen in 32 (71%) of children, and interestingly, among these patients, 87.1% were homozygous in gene typing, 86.2% had positive history of consanguinity, 71.4% were from South West (mountain area), 96.6% had family history of PH1, and 20% presented with impaired renal function. The patients with this mutation were younger at presentation than that with other genes, and it was more prevalent among boys (61.3%). Thus, the most common gene mutation found in Libyan children with PH1 was c.731T>C (p.lle244thr) and this is more likely due to the strong genetic pooling caused by the high consanguinity rate which requires an extensive genetic counseling.

Prevalence of Attention Deficit Hyperactivity Disorder among Preschool Children (3-6 Years), Menoufia Governorate

Background: Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioral disorder in children and adolescents. It is characterized by inattention and hyperactivity-impulsivity that often results in behavioral and academic difficulties. It affects about 3 - 12% of children with a male to female ratio varying from 3:1 to 9:1.Objectives: To estimate the prevalence and identifying possible risk factors of attention deficit hyperactivity disorder among preschool children (3-6 years), at Menoufia governorate. Methods: A cross-sectional comparative study was carried out in Menoufia governorate during the period from 15th March 2016 to 1st April 2018. The study included 572 preschool children (308) male and (264) female. They had been chosen from the preschool classes (KG1and KG2) in the randomly selected schools. Written consents were taken from children caregivers to participate in the study. Parents and teachers were the respondent to the Arabic version of Conner’s questionnaire. Suspected cases were confirmed and categorized by DSM-V criteria. Affected children and control group were subjected to medical and psychological assessment, IQ estimation and laboratory investigations. Results: Prevalence of attention deficit hyperactivity disorder among preschool children was 9.30%. It was higher in males (69.8%) with a male to female ratio about 2:1. Main risk factors were low socioeconomic level, large family size, living with a single parent and positive consanguinity. Conclusion: ADHD presents a troublesome problem among preschool children at Menoufia governorate. Collaborative efforts are required for early detection and management.

Pilot Study on Role of Family History of Epilepsy and Consanguinity in Yemeni Epileptic Patients

Objective: To determine the role of family history of epilepsy and consanguinity in Yemeni epileptic patients. Materials and Methods: Prospective descriptive study including all epileptic patients attended Sana'a and Thamar universities hospitals in Yemen during the period from January 2014 to December 2015. Every case was subjected to full clinical examination, history of epilepsy, history of epilepsy in the family and consanguinity among parents. Information regarding family history of epilepsy and consanguinity was checked by two members of investigation team for assuring correct information. Special sheet was designed to collect demographic data, results of investigation and other possible risk factors. The data was entered into PC, and statistically analyzed using SPSS package (Univariate Analysis of Variance and N-Anove- test) was used to obtain P value and multiple regression model to obtain R square. Results: The total numbers of epilepsy cases in this study were 300, of this (56.3%) were males and (43.7%) females. Most epilepsy cases (61.7%) were below 16 years of age. Positive family history was documented in 120 patients (40.0%) and positive parental consanguinity was 147 patients (49.0%). The onset of first crisis of epilepsy among <1-5 years age group patients who had positive family history of epilepsy and parental consanguinity, was high in comparison with those had no family history and no parental consanguinity, with significant P value 0.001 and 0.0001 respectively. Results of Univariate Analysis of Variance using N-Anove- test found significant differences between age and occurrence of epilepsy with P value reached to 0.000. Using multiple regression model, we found that there was independent correlation between epilepsy and each of family history, consanguinity of parents and birth asphyxia with (P value of 0.034, 0.017 and 0.008) respectively. Conclusion: In our study we found that, the positive family history of epilepsy and consanguinity in epileptic patients increased the incidence of epilepsy mainly at early childhood.