Clinical pointers to the etiology of global developmental delay in children
Sundari A. S. Muthuraman, Rachel Ranitha Peterson, Nirupama Navamani Franklyn, Madhuri Maganthi, Asha Kuruvilla
A
BSTRACT
Context
Global developmental delay (GDD) poses major challenges to families and healthcare professionals in India. Establishing an etiological diagnosis greatly aids management and family counseling.
Aims and Objectives:
This study aimed to identify key clinical features that distinguish the etiology to guide appropriate investigations in improving diagnosis and, therefore, management.
Materials and Methods:
This cross-sectional study recruited 157 GDD children using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for diagnosis. A detailed clinical history, examination, and investigations were performed. Associations between clinical features and etiology groups were analyzed using the Chi-square test or Fisher’s exact test.
Results:
GDD was diagnosed in 75% in the first year of life. Prenatal causes accounted for 51.6% of GDD, perinatal 35.6%, and postnatal 8%. Confirmed genetic causes were 16%, probable genetics were 29%, and 45% were non-genetic causes. Female gender (
Conclusion:
Genetic causes of GDD were noted to be as common as non-genetic etiologies in South India. Genetic causes were significantly associated with consanguineous marriage, family history, neuroregression, dysmorphism, and hypotonia. Vitamin B12 deficiency, causing 2% of GDD, underscores the need for prevention, timely diagnosis, and treatment.