Descriptive epidemiology of genetic anomalies in Narowal district, Punjab

Abstract

Hereditary and congenital anomalies (CA) are a diverse set of conditions that arise before or during birth. CA can be caused by genetic factors including single-gene mutations and chromosomal abnormalities, as well as environmental factors such as nutritional shortages, teratogen exposure, and infections. This descriptive epidemiological study was carried out in the Narowal district (Punjab) to observe the prevalence-pattern of CA and other rare genetic disorders in the general population. Data regarding phenotypes, inheritance, family, and bio-demographic variables were collected on a structured standard questionnaire, via door-to-door survey and visits to various hospitals. The pedigrees covering the three generations were drawn. Collected data were entered into MS Excel for storage and further statistical analysis. A total of 210 independent families with certain types of CA were recruited and seven major disease categories were observed: neuromuscular anomalies, sensorineural defects, neurological disorders, musculoskeletal defects, limbs defects, visual impairments and, others. Neuromuscular anomalies were common (n=60), followed by sensorineural defects (n=53), neurological disorders (n=41) and musculoskeletal defects (n=26). Among neuromuscular anomalies, CP was more common; in neurological disorders the majority of the patients were presented with intellectual disability (ID) and, in musculoskeletal defects, achondroplasia and muscle hypotonia were more frequent. Analysis of 210 cases revealed that males were more affected than females (60% vs. 40%) and the majority of the subjects were from rural areas (75%). Sporadic cases were more prevalent than familial cases (32% vs. 68%), and isolated cases were more common than syndromic. The majority of the patients (n=142; 68%) belonged to 10-39 years age group and were illiterate. The extended household was the most common family type and the majority of the subjects (n=76; 48%) were unemployed. First parity (n=74; 35%) was more common and (n=110; 52%) subject’s parents had consanguineous marriage union. In all major disease divisions, the average maternal age was between 26-29 years and the average paternal age was between 29-30 years. The data generated through this study showed the significant gender differentials in certain demographic variables like extended family types (p=0.008), occupation (p<0.0001), number of other affected in the family of the patients (p=0.001) and sporadic attributes (p=0.0004). This study can potentially be useful in designing precautionary measures and management strategies for CA.