History Of Consanguineous Marriage Research Articles

Socio-demographic Characteristics and Related Factors Affecting Children with Autism Spectrum Disorder

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits, communicative difficulties and repetitive behaviors, with evidence of cognitive dysfunction. Approximately 1% of the world’s population or 67 million are affected by autism. ASD is an emerging public health issue globally which is associated with a huge burden on the family, community and the nation.
 Objective: To determine the socio-demographic characteristics and related factors affecting children with ASD to help the government and relevant organizations to take necessary steps to reduce burden of the families.
 Materials and Methods: This cross-sectional study was carried out from July 2015 to June 2016 among 154 children with ASD. Data were collected by face-to-face interview with semi-structured questionnaire following systematic random sampling technique.
 Results: Majority (73.4%) of the children were male and mean (±SD) age was 6.66±2.97 years. Most (88.8%) of the children were from urban areas with average monthly family income Tk. 41785.71±23936.45. Majority of the fathers (45.5%) and mothers (31.8%) had 'masters level'of education. Maximum (68.2%) children were from nuclear family and a few (9.1%) parents had a history of consanguineous marriage. Most (96.8%) of the children were initially treated by specialist doctors whereas, the majority (74.0%) were diagnosed in government hospitals. Most (89.6%) of the children were treated withspeech therapy.
 Conclusion: Since ASD is a growing public health problem in Bangladesh, countrywide proper early diagnostic facilities, especially in peri-urban and rural areas, should be available to measure its actual burden in the country.
 Journal of Armed Forces Medical College Bangladesh Vol.13(1) 2017: 56-61

Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.

Summary Aim/background The main objective of this study was to evaluate the cause of reproductive failures in couples by clinical and cytogenetic analysis. Couples with history of recurrent pregnancy losses (RPL) were referred to our cytogenetic laboratory for chromosomal evaluation. Methods Chromosomal analysis from lymphocyte culture of the phenotypically normal couples were done to evaluate the role of chromosomal abnormalities in Recurrent spontaneous abortion (RSA) and to offer appropriate genetic counseling to them. Results Clinical and hormonal profile of the couples revealed normal phenotypes. Chromosomal analysis of the couples showed karyotypes like 45,XX,der(13;14)(q10;q10), 46,XX,t(1;17)(p36.2;p13.1), 46,XX,t(9;16)(p24.2;q12.2), 46,XX,t(1;18)(q42.1;q21.2), 46,XY,inv(9)(p11.2q13.3), 46,XY,inv(Y)(p11.2q11.223), 46,XX,inv(14)(q23.2q32.1), 46,XY,(16qh+), 46,XY,t(4;18)(q13.1;q23.0), 46,XX,t(12;14)(q24.1;q32.2), inv(11)(q23.2q24.3). Conclusion Among the cases mentioned in this study four translocation cases and inversion and translocation within single individual were not previously reported in any other literature. Novel balanced reciprocal translocations (BRT) were reported as original investigation in four individuals and single case of translocation and inversion within same individual in new break-points. The study showed chromosomal anomalies like balanced translocation, inversion and duplication causing recurrent pregnancy losses from different unrelated families and there was no history of consanguineous marriage in any of them.

Background History, Clinical Presentation and Laboratory Profile in Cases of Suspected Neurometabolic Disorders

Background : Neurometabolic disorders (NMD) in children may present at any age with a wide range of clinical manifestations. Unexplained or intractable seizure is one of the important associations. Consanguinity, regression of development and sibling death are the clues to suspect neurometabolic disorders when laboratory support is limited. Laboratory findings however, provide the confirmatory diagnosis which is unavailable in Bangladesh.Objectives : To determine the association of consanguinity, regression of development, seizures, EEG findings and other laboratory investigations in children suspected to have neurometabolic disorders and to aid clinicians working in resourcepoor countries.Methodology : A retrospective analysis was done from the records of the patients suspected to have neurometabolic disorders admitted in the department of Neurosciences, Dhaka Shishu Hospital, Dhaka during the period of July 2007 to February 2011. Tandem Mass Spectrometry (TMS), biotinidase activity and other enzyme assay were done through a private laboratory in New Delhi, India.Results : Total 128 children were studied and the parents of 39 (31%) had history of consanguineous marriage. Seizure was associated with 96 (75%) children and abnormal EEG findings were recorded in 83 (65%). Plasma ammonia was done in 98 cases and found to be increased in 53 (54%) cases. Plasma lactate was done in 94 cases and found high in 40 (43%). TMS were done in 111 (85%) children and abnormality were found in 70 (63%) cases. Serum biotinidase activity was advised for 41 children as per TMS result and measured in 25 children of which deficient activity was found in 17(68%); borderline in 4 (16%) and normal activity in 4 (16%) cases.Conclusion: Background history and clinical presentation followed by stepwise laboratory investigation is necessary to identify neurometabolic disorders. Early and appropriate intervention can reduce neurodisability in many situations.Bangladesh J Child Health 2015; VOL 39 (1) :24-29

The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study

OBJECTIVES:Congenital hypothyroidism (CH) is one of the major causes of preventable mental retardation in infants. The aim of this study was to determine the incidence of CH in Shadegan, Khuzestan Province, Iran from 2012 to 2014 and to identify the risk factors associated with CH.METHODS:A total of 203 cases were confirmed from 2012 to 2014 in Shadegan, with 66, 86, and 51 patients reported in 2012, 2013, and 2014, respectively. A total of 3,900, 3,991, and 4,050 live births occurred in 2012, 2013, and 2014, respectively. The controls (n=657) were selected using a random number table, and a case-control study was carried out to determine the risk factors for neonatal CH, including demographic, environmental, and medical factors.RESULTS:The incidence of CH was 17.0 per 1,000 live births in 2012, 21.5 per 1,000 live births in 2013, and 12.6 per 1,000 live births in 2014. This study showed that the likelihood of CH in children born to parents with a history of consanguineous marriage was 2.41 times greater than in children born to parents with no such history (odds ratio, 2.41; 95% confidence interval [CI], 1.65 to 3.53). This study also found that CH was 3.4 times more likely (95% CI, 2.29 to 5.20) in infants born in urban settings than in infants born in rural areas.CONCLUSIONS:The incidence of CH in Shadegan from 2012 to 2014 was approximately 17 times greater than the expected incidence in Iran. CH was associated with a history of consanguineous marriage and urbanization.

A graph based method for depicting population characteristics using Genome Wide Data

Genome Wide Association (GWA) studies associate genetic variants to clinical phenotypes using statistical tests which are based on assumption of random mating. Populations having history of consanguineous marriages, especially from Middle East, can violate this assumption. Here we present, use of averaged weighted clustering coefficient of undirected graphs to quantify cryptic relatedness between individuals from a random cohort. This measure can be used to understand pattern of relatedness in populations to choose between removing related samples and using mixed linear models correcting for relatedness while performing GWA studies.

X-linked Ichthyosis Presenting as Erythroderma: A Rare Case.

X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma.

Goldston syndrome: A rare case report

Goldston syndrome is a rare condition characterized by cystic renal dysplasia and Dandy-Walker malformation (DWM). We present a case of antenatal ultrasound diagnosis of a fetus with Goldstan syndrome in a 24-year-old primigravida with a history of consanguineous marriage. Ultrasound showed severe oligohydramnios, DWM, bilateral enlarged multicystic dysplastic kidneys and massive fetal ascites. The diagnosis was made at 24 th week of gestation and medical termination of pregnancy was done after discussion with the couple in view of poor prognosis of the condition.

Bombay blood group: Is prevalence decreasing with urbanization and the decreasing rate of consanguineous marriage

Context:Bombay blood group although rare is found to be more prevalent in the Western and Southern states of India, believed to be associated with consanguineous marriage.Aims:To estimate the prevalence of the Bombay blood group (Oh) in the urban population of Puducherry. To find the effect of urbanization on consanguineous marriage and to establish whether consanguinity plays a part in the prevalence of Oh group. To compare Oh group prevalence with that of other neighboring states, where population is not predominantly urban.Settings and Design:This is a descriptive study in a tertiary care hospital in Puducherry, over a period of 6 years.Materials and Methods:All blood samples showing ‘O’ group were tested with anti-H lectin. Specialized tests like Adsorption Elution Technique, inhibition assay for determination of secretor status were performed on Oh positive cases. Any history of consanguineous marriage was recorded.Statistical Analysis Used:All variables were categorical variable and percentage and proportions were calculated manually.Results:Analysis of the results of 35,497 study subjects showed that the most common group was ‘O’ group constituting 14,164 (39.90%) of subjects. Only three “Oh” that is, Bombay phenotype (0.008%) were detected. Consanguinity was observed in two cases (66.66%).Conclusions:This study shows the prevalence of Bombay blood group representing the urban population of Puducherry, to be high (0.008%) and associated with consanguineous marriage (66.66%). Thus, consanguinity is still an important risk factor present, even in an urban population in Southern India.

A study on prevalence of congenital ocular anomalies in paediatric age group

Introduction: Most congenital anomalies are present long before the time of birth, some in the embryonic period (up to the7th week of gestation) and other in the fetal period (8th week to term) Purpose: To study the incidence of congenital ocular anomalies in paediatric age group. Materials & Methods: In this study total 9350 patients were screened. The age and sex of the patient, gestational age, occurrence of consanguineous, distribution of various subtype of congenital anomalies, subtype of congenital cataract, age at presentation and diagnosis were noted. Results: The age variation in the study was between 0-12 years. The maximum number of patients were in the age group of 0-2 years. Male: female ratio was 1:1.4. Number cases were reported in anterior segment with full term delivery.32 cases having no positive history of consanguineous marriage. Total 12 cases were found about chronic dacryocystitis, 8 cases of coloboma of iris and choroid and each 5 cases of congenital cataract and Microhthalmos were found. None of the cases had any history of antenatal, obstetric complication, radiation and drug intake. Conclusion: A prevalence of 0.053% of congenital ocular anomalies. Most common anomaly was congenital dacryocystitis (24%), congenital cataract and microphthalmos being the second most common anomalies (14%) each.

Health awareness and consequences of consanguineous marriages: a community-based study.

This community-based study was done to assess the awareness of people regarding the ill effects of consanguinity and to observe its association with various sociodemographic variables and complications among children. Houses were chosen by systematic random sampling method and any married person in each household was interviewed. Only 35 (18.7%) out of 187 participants were aware of health hazards associated with consanguineous marriages. The prevalence of consanguineous marriages was found to be 23 (12.3%). History of consanguineous marriage was seen significantly more among illiterates (P = .05) and respondents with parental history of consanguinity (P < .001). The mean age at marriage was found to be significantly lower among women married consanguineously (P = .05). Congenital anomalies (P = .02) and low birth weight (P = .05) was seen significantly more among children with parental history of consanguinity. Large-scale awareness campaigns are needed to address the ill effects of this seemingly innocuous cultural practice.

Prognosis and demographic characteristics of SSPE patients in Istanbul, Turkey.

SSPE is a rare progressive, invariably fatal long-term complication of measles infection. In this study, we assessed the demographic and prognostic characteristics of 64 consecutive SSPE patients diagnosed at a tertiary center. The study had a retrospective design; data were obtained from patient records. The study includes 64 patients diagnosed with SSPE. There was history of consanguineous marriage in 27 (42.2%) patients. The average patient lifespan was 3.8years (45days-12years). The average patient age at diagnosis was 12.3 (range, 5-17)years. A statistically significant correlation was found between the age at diagnosis and lifespan (p=0.002). A statistically significant correlation was found between the incubation period and patient lifespan (p<0.001). No significant correlation was found between duration in the intensive care unit and lifespan (p=0.122). Routine physical therapy had no significant impact on the average lifespan (p=0.619). No significant difference was found between the vaccination dose and lifespan (p=0.651). High frequency of parental consanguinity in SSPE patients need to be evaluated as there might a genetic influence. Physical therapy and supportive treatments seems to have no affect on lifespan in SSPE patients. The age at diagnosis and incubation period might have an affect on prognosis and lifespan.

English

BACKGROUND AND OBJECTIVES: Laparoscopy is considered the gold standard for diagnosing tubal and peritoneal disease. The present study was aimed to evaluate the role of hystero- laparoscopy in the study of primary and secondary infertility so as to identify the various pathological conditions in female reproductive tract leading to primary/ secondary infertility and also to observe the complications of the procedure. METHODOLOGY: The present one year observational study was done in the Department of Obstetrics and Gynecology of a tertiary care hospital situated in Davanagere, Karnataka from January 2012 to December 2012. A total of 100 infertile women, anxious to conceive, coming for infertility work-up in hospitals underwent hystero- laparoscopy. RESULTS: The commonest age group was 26 to 30 years (57%) and the mean age was 27.27 ± 3.59 years. The history of consanguineous marriage was present in 20%. Majority (74%) of the women reported regular cycles while 26% of the women reported irregular menstrual history. Almost half of the study population (50%) had duration of infertility between 4 to 6 years and the mean duration was 4.62 ± 158 years. Primary infertility was noted in 79% of the women and PCOS was the commonest finding noted in 18.99%. In women with secondary infertility, pelvic inflammatory disease was the commonest diagnosis (19.05%). Majority (96.20% and 90.48% respectively) of the women with primary and secondary infertility did not have any complications. CONCLUSION AND INTERPRETATION: Diagnostic hysterolaparoscopy identifies the various pathological conditions leading to primary and secondary infertility and thus helps obstetrician for effective management hence it may be performed in all infertile patients.

The Investigation of Patients with Congenital Heart Disease Monitored at Neonatal Intensive Care Unit of Gaziantep Children’s Hospital

The Investigation of Patients with Congenital Heart Disease Monitored at Neonatal Intensive Care Unit of Gaziantep Children’s Hospital Objective: To evaluate retrospectively the relative frequencies, risk factors and diagnostic clues of congenital heart disease in newborns at our neonatal intensive care unit. Materials and Methods: Among 2005 cases who were admitted to the Gaziantep Children’s Hospital Neonatal Intensive Care Unit between January 2012-December 2012, 21 newborns with congenital heart disease were evaluated retrospectively. Results: The prevalence of congenital heart disease was 1.04 %. Heart murmur was the main reason for requesting cardiology consultation in newborns diagnosed as congenital heart disease. The relative percentages of acyanotic and cyanotic heart defects were 62, and 38 percent, respectively. The most frequently detected acyanotic and cyanotic defects were atrioventricular septal defect and tetralogy of Fallot with a prevalence of 23.3 % and 9.5 %, respectively. Besides, 71.5 % of the newborns with congenital heart disease were mature and 28.5 of them premature. Besides, 66.6 % of the newborns diagnosed as congenital heart disease were hospitalized because of respiratory distress. Mean mother age was found as 24.2 (17-41) years. Parents of 43 % of the patients had a history of consanguineous marriage. In the follow-up, surgical treatment were recomended for 8 patients. Three patients passed away before cardiac surgery because of cardiac failure. Conclusion: The prevalence of congenital heart disease in newborns at the neonatal intensive care unit is higher than that in all live births. Careful cardiac examination of neonates hospitalized in intensive care unit is important due to different cardiac hemodynamics even in the absence of significant cardiac findings.

English

We present an interesting case of a fetus which was delivered in our hospital after antenatal detection on ultrasonography. Clinical examination, ultrasonography findings, infantogram, autopsy and histopathology proved it to be a case of Meckel Gruber syndrome. INTRODUCTION: Meckel Gruber syndrome is a rare, lethal syndrome characterized by occipital cephalocele, post axial polydactyly and dysplastic cystic kidneys. We report a case of Meckel Gruber syndrome diagnosed antenatally at 37 weeks of gestation and confirmed postnatally by postnatal radiographs, fetal autopsy and histopathology. CASE REPORT: A 23 year old primigravida with no history of consanguineous marriage was referred for routine third trimester obstetric ultrasound. US evaluation revealed a single, live fetus of 37 weeks maturity with severe oligohydramnios. US of the fetal abdomen revealed bilateral enlarged echogenic kidneys with few cystic spaces (Fig- 1). Fetal head showed a large occipital cephalocele. (Figure - 2) Fetal thorax and liver were compressed by the enlarged kidneys. However fetal liver did not show cysts. Fetal urinary bladder was visualized. The limbs were examined for polydactyly but could not be ascertained as the liquor was scanty. The lungs were hypoplastic. The umbilical cord had a normal trivascular appearance. As the fetus showed lethal anomalies, she was admitted and delivery was induced. The baby was delivered stillborn. On clinical examination, the face showed characteristic potter facies - micrognathia, hypertelorism, epicanthic folds, snubbed nose, and low set ears. The fetus had grossly distended abdomen, a bell shaped thorax and an occipital encephalocele, lobulated tongue, polydactyly, talipes and club feet (Figures 3, 4, 5). Autopsy was done. The findings included large multicystic kidneys bilaterally. The lungs were hypoplastic. The bladder and ureters were seen and normal, uterus with ovaries was seen. (Figure 6) Histopathologic examination revealed-Multicystic dysplastic kidneys, hypoplastic lungs, and hepatic fibrosis. The finding of polydactyly in the autopsy specimen confirmed the diagnosis of Meckel Gruber syndrome.

Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage

To analyse the mode of inheritance and clinical characteristics of retinitis pigmentosa (RP) patients with consanguineous marriage. RP patients were recruited for this study in Ningxia Eye Hospital from September 2009 to July 2011. All patients received complete ophthalmic examination. The mode of inheritance were determined based on family history and marriage history. Clinical features were characterized by complete ophthalmic examinations including visual acuity, macular OCT, visual field and electroretinogram (ERG). A total of 143 individuals with RP (33 families) were recruited. Based on analysis of family history and marriage history, 20 RP families (23 patients) had consanguineous marriage history accounted for 60.6% RP families (16.1% RP patients). There were 4 patients (from 4 families) diagnosed as Usher syndrome. In 20 RP families with consanguineous marriage history, 7 families (35.0%) were Hui ethnicity and 13 families (65%) were Han ethnicity. The marriages of 15 families were between first cousins and 3 families were between second cousins, only 2 families were between half cousins matrimony. Of 23 RP patients, 12 were males and 11 were females. The average age of onset was 11.4 ± 6.8 years and the average age of recruitment was (32.0 ± 13.5) years. The best-corrected visual acuity was less than 0.6 in 78.2% patients. According to the features of the fundus, 13 patients were classical retinitis pigmentosa and 10 patients were retinitis pigmentosa sine pigmento. Visual field examination showed that all patients had varying degrees of peripheral visual field defect. Retinal neuroepithelial layer of macular and peripheral retina became thinner and retinal photoreceptors were disappeared. The average thickness of macular fovea was (186.1 ± 78.7) µm on right eyes and (187.4 ± 76.3) µm on left eyes. The incidence of RP with consanguineous marriages was high in Ningxia Region. The mode of inheritance of RP patients with consanguinity is autosomal recessive. The common marriage pattern of consanguinity is between first cousins. The age of onset is early and the ocular fundus changes of some patients are atypical, this should be paid attention clinically.

THORACIC ECTOPIA CORDIS - A CASE REPORT

Ectopia Cordis is a rare congenital anomaly characterized by partial or complete displacement of the heart, outside the thoracic cavity. Usually ectopia cordis is associated with other multiple anomalies and intra cardiac defects ,due to ventral body wall developmental defects. The present case was a fullterm 6 hours old female baby, weighting 1.8 kg ,born to a 22 year old, 2ndGravida, para2 mother, delivered by normal vaginal delivery. No history of consanguineous marriage. Baby has ectopia cordis, complete bilateral cleft lip and cleft palate and sternum is absent. After investigations single staged surgery was performed. The baby died after three hours due to cardiac and respiratory arrest.

Hypocalcified autosomal recessive amelogenesis imperfecta—A case report

Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring in primary dentition in a 7-year-old girl with a family history of consanguineous marriage. Clinical and radiological examination revealed discoloration and hypoplasia of enamel with easy chipping affecting both maxillary and mandibular dentition.

Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.

Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings

Osteogenesis imperfecta (OI) is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. The clinical and radiological features of OI manifest in different age groups, although the disease is congenital in nature. Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed. In severe cases, respiratory distress and death have been reported. The most important oral finding in OI is the presence of yellowish-brown-coloured brittle teeth characteristic of dentinogenesis imperfecta. Genetic factors play a very important role in the pathogenesis of OI either as a dominant or recessive factor. When a child has OI, there is a 25% chance of the sibling to have the same disorder. We report two cases of OI in siblings born to parents with a history of consanguineous marriage. The clinical and radiological features of the two cases are described in detail.

CONGENITAL ANOMALIES IN NEWBORN

Objective: To determine congenital anomalies in newborn and associated maternal risk factors. Design: Cross sectionalobservational study. Setting: Department of Gynecology &amp; Obstetrics unit 1 Lahore General Hospital Lahore. Period: From Jan 2007—Dec2007. Patients &amp; methods: All the women who have given birth to babies with congenital abnormalities were recorded. Diagnosis of neonatalcongenital anomalies was based on clinical evaluation of newborn by experienced neonatologist. Results: During the study period, 2872patients delivered, of which 48 had congenitally malformed babies, makes the prevalence of 16 per 1000 births. Congenital anomalies weremost commonly 52.26% seen in the 21-30 years. The most frequent associated risk factor was history of consanguineous marriage in 45.83%.Neural tube defects were found to be commonest type of anomaly. Among the most frequent neural tube defect was hydrocephalus andanencephaly. Conclusion: The commonest associated risk factor was consanguineous marriage the frequency of which may be reduced bycreating awareness regarding the avoidance of consanguineous marriages. NTD were the most prevalent anomaly detected and early prenataldiagnosis is helpful in decreasing the indirect prevalence of perinatal mortality by offering early termination.