ABSTRACT
OBJECTIVES: To assess the efficacy of the current universal neonatal hearing screening program in a tertiary medical institution in Oman, identify its limitations and drawbacks, and explore their causative factors. METHODS: A retrospective review was carried out to analyse the hearing screening of 12,743 live babies born between January 2016 and December 2018. Screen coverage, drop outs, follow up rate, and age at completion of screening, diagnosis, and intervention were analysed. The results were compared with the Joint Committee on Infant Hearing (JCIH) performance quality indices. Prospective questionnaire-based telephonic interviews were then conducted with the parents or caregivers of neonates with hearing loss. Finally, the causes of loss to follow up or delays in hearing screenings, diagnosis, and/or early intervention were studied. RESULTS: The true prevalence of hearing loss was 4.0 in 1000. The coverage of first-stage screening was 90% whereas the compliance with the second stage was 88.04%. 22.8% of the patients eventually obtained final diagnostic confirmation. The overall compliance with amplification was 30.2%. The completion ages of primary screening and final confirmation were 7.98 and 17.3 weeks respectively. The importance of hearing screening is well received by parents, but problems related to communication, delays in the appointment system, and inefficient follow up tracking were identified as the main limitations and drawbacks of the program. CONCLUSION: The coverage of the neonatal hearing screening program had not yet reached the required goal of 95%. The performance indicators also fell below the international benchmark. There is a need to address the identified causative factors. Effective communication and well-maintained tracking systems need to be implemented.
Subject(s)
Hearing Loss/diagnosis , Hearing Loss/epidemiology , Neonatal Screening/standards , Patient Compliance/statistics & numerical data , Appointments and Schedules , Caregivers , Communication , Female , Hearing Loss/etiology , Humans , Infant , Infant, Newborn , Lost to Follow-Up , Male , Neonatal Screening/organization & administration , Oman/epidemiology , Parents , Prevalence , Prospective Studies , Retrospective Studies , Surveys and QuestionnairesABSTRACT
BACKGROUND: Patent ductus arteriosus (PDA) is a frequent congenital heart disease. Its transcatheter closure has become the treatment of choice in children and adults. However, the device closure of PDA in children with low weight is still challenging with high rate of complications. The aim of this study was to report further experience with trancatheter closure of PDA using the Amplatzer Duct Occluder(ADO) for children weighing less or equal to 8 kg. METHODS: Twenty-two patients (5 male, 17 female) underwent transcatheter closure of a PDA using ADO at a median age of 10 months (range 4 to 26) and a median weight of 7 kg (range 4.3 to 8). Follow-up evaluations were performed with Doppler echocardiography at 24h, and at 6 and 12 months. RESULTS: The device was implanted successfully in all patients. The median fluoroscopy time was 17.25 min (range 10 to 29). Within 24h, color Doppler revealed complete closure in 15 patients (68%), the other patients had a small residual shunt. No deaths were associated with the procedure. Two patients had a slight aortic protrusion of the device without coarctation and in one patient the device encroached partially on the left pulmonary artery without significant acceleration on Doppler echocardiography. All patients were discharged home the next day. All patients completed the 6-month follow-up with complete closure in 18 patients (81%). At the last evaluation in all patients at any time, there has been documentation of complete PDA closure in 20 (91%) of 22 patients. CONCLUSION: In patients weighing less or equal to 8 kg, percutaneous closure of PDA using an ADO is a safe and effective procedure.
Subject(s)
Body Weight , Ductus Arteriosus, Patent/therapy , Septal Occluder Device/adverse effects , Cardiac Catheterization , Child, Preschool , Echocardiography, Doppler, Color , Female , Follow-Up Studies , Humans , Infant , Male , Treatment OutcomeABSTRACT
Familial aortic aneurysm (AA) is mostly inherited as an autosomal dominant disorder. However, recessively inherited AA has also been observed but in association with skin manifestations of cutis laxa, which is caused by a mutated EFEMP2 gene. In the present study, we recruited 9 patients, from 4 unrelated consanguineous families, with recessively inherited AA. The index cases, their parents, and siblings underwent clinical evaluation and cardiac imaging. In the affected subjects, the clinical presentation ranged from sweating and cyanosis at 3 months of age to incidental findings in an asymptomatic adult. The echocardiogram revealed a wide spectrum of severity of the AA, with a Z-score varying from 5 to 33. Intrafamilial variability was also evident; 2 unrelated subjects were detected at 17 and 20 years of age through family screening. The skin manifestations of cutis laxa were not found in any patient. In 1 family, genome-wide single-nucleotide polymorphism analysis detected a homozygous block, shared by 2 affected siblings, on chromosome 11 at q13. Sequence analysis of EFEMP2, located on chromosome 11 at q13, identified a novel homozygous mutation (p.E161K) in all 9 affected subjects. In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation. In conclusion, our work suggests that in families with apparently recessively inherited AA, molecular analysis of EFEMP2 gene might be warranted.
Subject(s)
Aortic Aneurysm/genetics , Extracellular Matrix Proteins/genetics , Genes, Recessive , Mutation , Adolescent , Adult , Child , Child, Preschool , Chromosomes, Human, Pair 11/genetics , Consanguinity , Echocardiography , Homozygote , Humans , Infant , Pedigree , Phenotype , Polymorphism, Single Nucleotide , Saudi Arabia , Sequence Analysis, Protein , Severity of Illness Index , Young AdultABSTRACT
Family studies are widely used for research into genetic and environmental influences on human traits. In this paper, we establish statistical methodology for the estimation of a new measure of sib similarity with respect to dichotomous traits measured on each member of within family sib-pair. We call this parameter "excess risk." For inference problems involving a single sample, we construct a large sample confidence interval on the concerned parameter. It has long been suspected that consanguinity is a risk factor for many genetic defects. Therefore, we establish a procedure to test the significance of the difference between excess risk parameters in a sample of consanguineous marriages and another sample of non-consanguineous marriages. We apply the methodology to data from a hospital-based congenital heart defects registry in Saudi Arabia, a population in which consanguinity is quite common.
