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Etiological Yield of Global Developmental Delay in Kanti Children's Hospital
1Department of Pediatrics, Kanti Children's Hospital, Kathmandu, Nepal.
Insights
Identifying the cause of global developmental delay (GDD) is crucial for treatment. This study found that perinatal asphyxia and post-infectious sequelae were the most common causes in children with GDD.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Clinical Genetics
Background:
- Global developmental delay (GDD) is a frequent pediatric concern with diverse origins.
- Accurate etiological diagnosis of GDD is essential for understanding disease mechanisms, predicting outcomes, and guiding treatment.
- This study aimed to assess the diagnostic yield of etiological investigations in children with GDD.
Purpose of the Study:
- To determine the etiological yield of comprehensive evaluations in children presenting with global developmental delay.
- To identify the most frequent causes of GDD in the studied pediatric population.
Main Methods:
- A descriptive cross-sectional study was conducted on 110 children (6 months to 5 years) with GDD.
- Evaluations included detailed history, neurological examination, neuroimaging, electroencephalogram, hearing and visual assessments.
- Further investigations like thyroid function tests, karyotyping, and enzyme assays were performed based on clinical suspicion.
Main Results:
- An etiological diagnosis was established in 78% (86 out of 110) of the patients.
- The leading causes identified were perinatal asphyxia (44.5%) and post-infectious sequelae (10%).
- Other identified etiologies included cerebral dysgenesis, genetic syndromes, metabolic disorders, and neurocutaneous syndromes, with 21% remaining undiagnosed.
Conclusions:
- A specific etiology for global developmental delay can be identified in a significant majority of cases through thorough clinical evaluation and targeted investigations.
- Perinatal asphyxia and post-infectious sequelae represent the most prevalent etiological factors contributing to GDD in this cohort.
Introduction:
Global developmental delay is the common pediatric problem having spectrum of underlying causes. Etiological diagnosis is very vital for providing information regarding pathogenesis, prognosis, recurrence, risk and treatment options. The aim of this study was to determine etiological yield of global developmental delay.
Methods:
This descriptive cross-sectional study included children of 6 months to 5 year of age with global developmental delay referred to pediatric outpatient Neurology clinic of Kanti Children's Hospital. Diagnostic study included detailed history, examination followed by required investigations neuroimaging, electroencephalogram, hearing and visual assessment. Thyroid function test, karyotyping and enzyme essay were done in selected patients depending on the condition.
Results:
In this study, 110 patients were evaluated out of which 70 were male and 40 were female. An etiological diagnosis was determined in 86 (78%) of the patients classified under following categories perinatal asphyxia 49 (44.5%), post infectious sequelae 11 (10%), cerebral dysgenesis 6 (5.45%), genetic syndrome 6 (5.45%), metabolic causes 5 (4.54%), neurocutaneous syndrome 4 (3.63%) and non-specific leucodystrophy changes . Etiology was unknown in 24 (21 %) of the patients.
Conclusions:
A specific etiology can be determined in majority of cases of global developmental delay after comprehensive evaluation. The most common etiologies were perinatal asphyxia and post infectious sequelae.