Background: Developmental delay is a common neurodevelopmental problem with heterogeneous etiologies. Brain magnetic resonance imaging (MRI) is a key investigation for identifying structural causes and guiding further evaluation. This study assessed the spectrum and etiological distribution of MRI abnormalities in children with developmental delay and evaluated the adjunct role of magnetic resonance spectroscopy (MRS) in MRI-negative cases. Methods: This hospital-based cross-sectional observational study included 120 children aged 6 months to 10 years with clinically diagnosed developmental delay referred to the Department of Radiodiagnosis, SVS Medical College, Mahabub Nagar, during the period from October 2023 to September 2024. All children underwent brain MRI on a 3 Tesla Philips Ingenia scanner using standard sequences (T1, T2, T2 FLAIR, DWI with ADC, and SWI in axial, sagittal, and coronal planes). MRI findings were systematically assessed for involvement of major brain structures and categorized into etiological groups: neurovascular/hypoxic–ischemic, congenital/developmental, metabolic/neurodegenerative (where applicable), neoplastic/cystic, nonspecific, and normal. Seizure history and neurological deficits were documented. Proton MRS was performed in a subset of children with normal MRI where feasible. Data were analyzed using SPSS; p<0.05 was considered significant. Results: Of 120 children, 66 (55%) were males and 54 (45%) females. The most common age group was 1–3 years (50%). Neurological deficits were noted in 20 (16.7%), with hypotonia being most frequent (70% of those with deficits). MRI was abnormal in 95/120 (79.2%) and normal in 25/120 (20.8%). The most commonly involved structures were white matter (53.3%), ventricles (35.0%), corpus callosum (25.8%), and gray matter (18.3%). Etiologically, neurovascular/hypoxic–ischemic changes were the leading category (51.7%), followed by congenital/developmental anomalies (12.5%), nonspecific findings (10.8%), neoplastic/cystic lesions (3.3%), and multifactorial causes (0.8%). Seizures were present in 66 (55%) children; among them, 59 (89.4%) had abnormal MRI findings. Conclusion: Brain MRI demonstrated a high diagnostic yield in children with developmental delay, with neurovascular/hypoxic–ischemic injury as the predominant etiology and white matter, ventricular, and corpus callosum involvement as the most frequent patterns. Seizures were strongly associated with abnormal MRI findings. MRS showed limited added value in MRI-negative children in this study and may be reserved for selected cases based on clinical suspicion and feasibility.
Child development is a continuous, dynamic process that begins at conception and progresses through infancy, childhood, and adolescence. It is shaped by a complex interplay of genetic, biological, and environmental factors, including prenatal influences, perinatal events, nutrition, and early childhood experiences. Developmental delay refers to a significant lag in achieving age-appropriate milestones in one or more developmental domains, namely gross and fine motor skills, speech and language, cognition, and social–emotional functioning. Global developmental delay (GDD) is typically defined in children younger than five years as performance more than two standard deviations below the mean for age in at least one developmental domain (1,2).
Globally, developmental delay affects approximately 1–3% of children under five years of age and represents one of the most common reasons for referral to pediatric neurology and developmental clinics (1,3). The burden is disproportionately higher in low- and middle-income countries, where perinatal insults, infections, malnutrition, and limited access to early intervention services remain prevalent (4). In India, developmental delay is estimated to affect nearly 10% of children, contributing substantially to long-term educational, social, and economic challenges for families and healthcare systems (5). Early identification is therefore a major public health priority, as untreated developmental delay is associated with persistent cognitive impairment, behavioral problems, and reduced quality of life in adulthood (6).
Clinically, child development is assessed across four principal domains: (i) gross and fine motor development, (ii) speech and language development (expressive and receptive), (iii) social and emotional development, and (iv) cognitive development (7). Developmental delay implies delayed attainment of milestones in the expected sequence compared with typically developing peers. Quantitatively, developmental status is often expressed using the developmental quotient (DQ), calculated as developmental age divided by chronological age multiplied by 100. A DQ below 70 is considered significant, with further classification into mild, moderate, and severe delay based on functional age relative to chronological age (2,7).
Brain maturation after birth involves critical biological processes such as neuronal migration, synaptogenesis, glial proliferation, and progressive myelination. Disruption of these processes—whether due to hypoxic–ischemic injury, metabolic derangements, genetic abnormalities, or structural malformations—can manifest clinically as developmental delay (8). Because motor, cognitive, and behavioral development directly reflect underlying brain structure and connectivity, neuroimaging plays a pivotal role in etiological evaluation.
Magnetic resonance imaging (MRI) has emerged as the primary neuroimaging modality for evaluating children with developmental delay due to its superior soft-tissue contrast, multiplanar capability, and absence of ionizing radiation. MRI enables detailed assessment of cortical development, white matter integrity, ventricular morphology, corpus callosum formation, and myelination patterns. Previous studies and systematic reviews have demonstrated abnormal MRI findings in approximately 60–80% of children with developmental delay, particularly in those with additional neurological features such as seizures or motor deficits (3,9).
Evaluation of developmental delay is inherently multidisciplinary and may include metabolic screening, genetic testing, endocrine evaluation, electroencephalography (EEG), and neuroimaging. Advances in MRI technology have improved sensitivity for detecting subtle etiologies and allow classification of abnormalities into neurovascular, congenital and developmental, metabolic, neurodegenerative, neoplastic, and nonspecific categories. Such categorization refines diagnostic pathways, guides further investigations, and aids prognostication and parental counseling (6,9,10).
In addition to conventional MRI, proton magnetic resonance spectroscopy (¹H-MRS) offers a non-invasive method to assess brain metabolism by measuring key neurometabolites such as N-acetylaspartate (NAA), choline (Cho), and creatine (Cr). Alterations in NAA/Cr and Cho/Cr ratios have been associated with impaired neuronal integrity, delayed myelination, gliosis, and metabolic dysfunction. MRS may therefore provide complementary information, particularly in children with normal structural MRI but persistent clinical suspicion of underlying pathology (10,11). However, its routine use remains debated due to technical limitations, motion artifacts, and feasibility concerns in younger children.
A comprehensive radiological evaluation thus provides crucial insights into the nature, prevalence, and distribution of brain abnormalities in children with developmental delay. MRI not only facilitates etiological diagnosis but also plays a vital role in guiding therapeutic decisions, predicting disease course, and supporting genetic counseling to reduce recurrence risk in future pregnancies. The present study was undertaken to determine the prevalence of normal and abnormal MRI findings and to evaluate the spectrum of etiologies of developmental delay based on brain MRI, thereby aiding clinicians in structured diagnosis and management planning.
AIM
To evaluate the spectrum of brain magnetic resonance imaging (MRI) findings in children presenting with developmental delay and to determine the role of MRI in identifying underlying etiological factors.
OBJECTIVES
Study Design This was a hospital-based cross-sectional observational study. Study Location and Period The study was conducted at SVS Medical College, Mahabub Nagar over a period of 12 months from October 2023 to September 2024. Study Population Children presenting with developmental delay and referred for neuroimaging evaluation to the Department of Radiodiagnosis during the study period were included. Inclusion Criteria • Children aged 6 months to 10 years with clinically diagnosed developmental delay • Children referred for brain MRI to evaluate the cause of developmental delay • Children whose parents or legal guardians provided informed written consent Exclusion Criteria • Children younger than 6 months or older than 10 years • Children with progressive neurodegenerative disorders • Children with known chromosomal abnormalities or recognized genetic syndromes • Children with congenital central nervous system infections, meningitis, or encephalitis Clinical Assessment All children underwent a detailed clinical evaluation by a pediatrician experienced in developmental assessment prior to imaging. Developmental delay was assessed using standardized screening tools such as the Trivandrum Developmental Screening Chart and DENVER II, wherever applicable. Relevant demographic data, antenatal and perinatal history, developmental history, seizure history, and associated neurological deficits were documented. MRI Protocol Brain MRI was performed using a 3.0 Tesla Philips Ingenia MRI scanner. The imaging protocol included standard sequences: • Axial and sagittal T1-weighted images • Axial T2-weighted images • Fluid-attenuated inversion recovery (FLAIR) • Diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) maps Additional sequences were acquired when required based on initial findings. Image Analysis All MRI scans were independently reviewed by an experienced radiologist who was blinded to detailed clinical information. Brain structures including ventricles, corpus callosum, gray and white matter, basal ganglia, brainstem, and cerebellum were systematically evaluated. MRI findings were categorized into the following etiological groups: • Neurovascular / traumatic • Congenital and developmental anomalies • Metabolic and neurodegenerative disorders • Neoplastic and cystic lesions • Nonspecific findings • Normal MRI Statistical Analysis Data were entered into Microsoft Excel and analyzed using Statistical Package for the Social Sciences (SPSS) software. Categorical variables were expressed as frequencies and percentages. Associations between clinical variables and MRI findings were assessed using appropriate statistical tests. A p-value <0.05 was considered statistically significant. Ethical Considerations The study was approved by the Institutional Ethics Committee of SVS Medical College. Written informed consent was obtained from parents or legal guardians prior to imaging. All procedures were conducted in accordance with the ethical standards of the Declaration of Helsinki.
Study Population
The present study included 120 children aged 6 months to 10 years who presented with developmental delay and fulfilled the inclusion criteria. Of these, 66 (55%) were males and 54 (45%) were females, with a male-to-female ratio of approximately 1.2:1, indicating a mild male predominance.
Age Distribution
The majority of children belonged to the 1–3 year age group (60/120; 50%), followed by those aged 4–6 years (28/120; 23.3%), 6 months–1 year (24/120; 20%), and 7–10 years (8/120; 6.7%).
No statistically significant association was observed between age group and the severity of developmental delay, indicating that developmental delay was uniformly distributed across age categories.
Neurological Deficits
Out of 120 children, 20 (16.7%) exhibited clinically evident neurological deficits. Among these children, hypotonia was the most common finding (14/20; 70%), followed by spasticity (10/20; 50%), gait abnormalities (4/20; 20%), and hemiplegic cerebral palsy (3/20; 15%).
These findings highlight hypotonia as the predominant neurological abnormality associated with developmental delay in this cohort.
MRI Brain Findings
Brain MRI revealed abnormalities in 95 out of 120 children (79.2%), while 25 children (20.8%) had normal MRI findings.
Among abnormal scans, white matter involvement was the most frequent finding (64/120; 53.3%), followed by abnormalities involving the ventricles (42/120; 35%), corpus callosum (31/120; 25.8%), and grey matter (22/120; 18.3%).
Less frequently involved structures included the basal ganglia (7/120; 5.8%), limbic system (5/120; 4.2%), brainstem (2/120; 1.7%), and cranial vault (2/120; 1.7%).
Multiple brain regions were involved in several cases, indicating overlapping pathological processes.
Pattern of MRI Abnormalities
When MRI abnormalities were categorized etiologically, neurovascular and hypoxic-ischemic changes were the most common (62/120; 51.7%), followed by congenital and developmental anomalies (15/120; 12.5%) and nonspecific imaging findings (13/120; 10.8%).
Neoplastic or cystic lesions were observed in 4 children (3.3%), while multifactorial abnormalities were noted in 1 child (0.8%).
Seizure Association
Seizures were documented in 66 children (55%). Among these, 59 children (89.4%) demonstrated abnormal MRI findings, indicating a strong association between the presence of seizures and structural brain abnormalities.
MR Spectroscopy Findings
Of the 25 children with normal MRI, 18 underwent MR spectroscopy, selected based on clinical stability and ability to cooperate without prolonged sedation.
Multivoxel MR spectroscopy revealed a mean N-acetylaspartate to creatine (NAA/Cr) ratio of 2.35 and a mean choline to creatine (Cho/Cr) ratio of 1.33, values that did not differ significantly from age-matched normative data.
These findings suggest that MR spectroscopy provides limited additional diagnostic yield in children with normal MRI findings, particularly in younger age groups.
Summary of Results
The present study demonstrates that MRI detects structural abnormalities in nearly four-fifths of children with developmental delay, with white matter and corpus callosum involvement being the most frequent findings.
Seizures and prematurity showed strong associations with abnormal MRI. While MR spectroscopy may offer supplementary metabolic information, its routine use is limited by technical constraints and minimal added diagnostic value when MRI findings are normal.
MRI remains the cornerstone imaging modality in the evaluation of developmental delay, with MR spectroscopy serving as a selective adjunct in appropriately chosen cases.
Table 1: Age and Sex Distribution of Children with Developmental Delay (n = 120)
|
Age group |
Male |
Female |
Total |
Percentage (%) |
|
6 months – 1 year |
13 |
11 |
24 |
20.0 |
|
1 – 3 years |
32 |
28 |
60 |
50.0 |
|
4 – 6 years |
15 |
13 |
28 |
23.3 |
|
7 – 10 years |
6 |
2 |
8 |
6.7 |
|
Total |
66 |
54 |
120 |
100 |
Table 2: Distribution of Neurological Deficits among Children with Developmental Delay (n = 20)
|
Neurological deficit |
Number (n) |
Percentage (%) |
|
Hypotonia |
14 |
70.0 |
|
Spasticity |
10 |
50.0 |
|
Gait abnormality |
4 |
20.0 |
|
Hemiplegic cerebral palsy |
3 |
15.0 |
Table 3: MRI Brain Findings – Normal vs Abnormal (n = 120)
|
MRI finding |
Frequency |
Percentage (%) |
|
Normal |
25 |
20.8 |
|
Abnormal |
95 |
79.2 |
|
Total |
120 |
100 |
Table 4: Distribution of Affected Brain Structures on MRI (n = 120)
|
Affected brain structure |
Number (n) |
Percentage (%) |
|
White matter |
64 |
53.3 |
|
Ventricles |
42 |
35.0 |
|
Corpus callosum |
31 |
25.8 |
|
Grey matter |
22 |
18.3 |
|
Limbic system |
5 |
4.2 |
|
Basal ganglia |
7 |
5.8 |
|
Brain stem |
2 |
1.7 |
|
Cranial vault |
2 |
1.7 |
|
Others |
13 |
10.8 |
Table 5: Etiological Classification of MRI Abnormalities (n = 120)
|
MRI abnormality category |
Number (n) |
Percentage (%) |
|
Neurovascular / hypoxic-ischemic |
62 |
51.7 |
|
Congenital & developmental |
15 |
12.5 |
|
Nonspecific findings |
13 |
10.8 |
|
Neoplastic / cystic lesions |
4 |
3.3 |
|
Multifactorial |
1 |
0.8 |
|
Normal MRI |
25 |
20.8 |
|
Total |
120 |
100 |
Table 6: Association of Seizures with MRI Findings (n = 120)
|
Seizure status |
Abnormal MRI |
Normal MRI |
Total |
|
Present |
59 |
7 |
66 |
|
Absent |
36 |
18 |
54 |
|
Total |
95 |
25 |
120 |
Table 7: MR Spectroscopy Findings in Children with Normal MRI (n = 18)
|
Metabolite ratio |
Mean value |
|
NAA / Cr |
2.35 |
|
Cho / Cr |
1.33 |
FIGURE 1: Bar diagram showing age distribution of children with developmental delay. Majority of children belonged to the 1–3 year age group.
FIGURE 2: Distribution of normal and abnormal MRI findings in children with developmental delay. Abnormal MRI findings were observed in the majority of cases.
FIGURE 3: Bar diagram depicting distribution of affected brain structures on MRI. White matter and corpus callosum were the most commonly involved regions.
Study Population
The present study included 120 children aged 6 months to 10 years who presented with developmental delay and fulfilled the inclusion criteria. Of these, 66 (55%) were males and 54 (45%) were females, with a male-to-female ratio of approximately 1.2:1, indicating a mild male predominance.
Age Distribution
The majority of children belonged to the 1–3 year age group (60/120; 50%), followed by those aged 4–6 years (28/120; 23.3%), 6 months–1 year (24/120; 20%), and 7–10 years (8/120; 6.7%).
No statistically significant association was observed between age group and the severity of developmental delay, indicating that developmental delay was uniformly distributed across age categories.
Neurological Deficits
Out of 120 children, 20 (16.7%) exhibited clinically evident neurological deficits. Among these children, hypotonia was the most common finding (14/20; 70%), followed by spasticity (10/20; 50%), gait abnormalities (4/20; 20%), and hemiplegic cerebral palsy (3/20; 15%).
These findings highlight hypotonia as the predominant neurological abnormality associated with developmental delay in this cohort.
MRI Brain Findings
Brain MRI revealed abnormalities in 95 out of 120 children (79.2%), while 25 children (20.8%) had normal MRI findings.
Among abnormal scans, white matter involvement was the most frequent finding (64/120; 53.3%), followed by abnormalities involving the ventricles (42/120; 35%), corpus callosum (31/120; 25.8%), and grey matter (22/120; 18.3%).
Less frequently involved structures included the basal ganglia (7/120; 5.8%), limbic system (5/120; 4.2%), brainstem (2/120; 1.7%), and cranial vault (2/120; 1.7%).
Multiple brain regions were involved in several cases, indicating overlapping pathological processes.
Pattern of MRI Abnormalities
When MRI abnormalities were categorized etiologically, neurovascular and hypoxic-ischemic changes were the most common (62/120; 51.7%), followed by congenital and developmental anomalies (15/120; 12.5%) and nonspecific imaging findings (13/120; 10.8%).
Neoplastic or cystic lesions were observed in 4 children (3.3%), while multifactorial abnormalities were noted in 1 child (0.8%).
Seizure Association
Seizures were documented in 66 children (55%). Among these, 59 children (89.4%) demonstrated abnormal MRI findings, indicating a strong association between the presence of seizures and structural brain abnormalities.
MR Spectroscopy Findings
Of the 25 children with normal MRI, 18 underwent MR spectroscopy, selected based on clinical stability and ability to cooperate without prolonged sedation.
Multivoxel MR spectroscopy revealed a mean N-acetylaspartate to creatine (NAA/Cr) ratio of 2.35 and a mean choline to creatine (Cho/Cr) ratio of 1.33, values that did not differ significantly from age-matched normative data.
These findings suggest that MR spectroscopy provides limited additional diagnostic yield in children with normal MRI findings, particularly in younger age groups.
Summary of Results
The present study demonstrates that MRI detects structural abnormalities in nearly four-fifths of children with developmental delay, with white matter and corpus callosum involvement being the most frequent findings.
Seizures and prematurity showed strong associations with abnormal MRI. While MR spectroscopy may offer supplementary metabolic information, its routine use is limited by technical constraints and minimal added diagnostic value when MRI findings are normal.
MRI remains the cornerstone imaging modality in the evaluation of developmental delay, with MR spectroscopy serving as a selective adjunct in appropriately chosen cases.
Table 1: Age and Sex Distribution of Children with Developmental Delay (n = 120)
|
Age group |
Male |
Female |
Total |
Percentage (%) |
|
6 months – 1 year |
13 |
11 |
24 |
20.0 |
|
1 – 3 years |
32 |
28 |
60 |
50.0 |
|
4 – 6 years |
15 |
13 |
28 |
23.3 |
|
7 – 10 years |
6 |
2 |
8 |
6.7 |
|
Total |
66 |
54 |
120 |
100 |
Table 2: Distribution of Neurological Deficits among Children with Developmental Delay (n = 20)
|
Neurological deficit |
Number (n) |
Percentage (%) |
|
Hypotonia |
14 |
70.0 |
|
Spasticity |
10 |
50.0 |
|
Gait abnormality |
4 |
20.0 |
|
Hemiplegic cerebral palsy |
3 |
15.0 |
Table 3: MRI Brain Findings – Normal vs Abnormal (n = 120)
|
MRI finding |
Frequency |
Percentage (%) |
|
Normal |
25 |
20.8 |
|
Abnormal |
95 |
79.2 |
|
Total |
120 |
100 |
Table 4: Distribution of Affected Brain Structures on MRI (n = 120)
|
Affected brain structure |
Number (n) |
Percentage (%) |
|
White matter |
64 |
53.3 |
|
Ventricles |
42 |
35.0 |
|
Corpus callosum |
31 |
25.8 |
|
Grey matter |
22 |
18.3 |
|
Limbic system |
5 |
4.2 |
|
Basal ganglia |
7 |
5.8 |
|
Brain stem |
2 |
1.7 |
|
Cranial vault |
2 |
1.7 |
|
Others |
13 |
10.8 |
Table 5: Etiological Classification of MRI Abnormalities (n = 120)
|
MRI abnormality category |
Number (n) |
Percentage (%) |
|
Neurovascular / hypoxic-ischemic |
62 |
51.7 |
|
Congenital & developmental |
15 |
12.5 |
|
Nonspecific findings |
13 |
10.8 |
|
Neoplastic / cystic lesions |
4 |
3.3 |
|
Multifactorial |
1 |
0.8 |
|
Normal MRI |
25 |
20.8 |
|
Total |
120 |
100 |
Table 6: Association of Seizures with MRI Findings (n = 120)
|
Seizure status |
Abnormal MRI |
Normal MRI |
Total |
|
Present |
59 |
7 |
66 |
|
Absent |
36 |
18 |
54 |
|
Total |
95 |
25 |
120 |
Table 7: MR Spectroscopy Findings in Children with Normal MRI (n = 18)
|
Metabolite ratio |
Mean value |
|
NAA / Cr |
2.35 |
|
Cho / Cr |
1.33 |
FIGURE 1: Bar diagram showing age distribution of children with developmental delay. Majority of children belonged to the 1–3 year age group.
FIGURE 2: Distribution of normal and abnormal MRI findings in children with developmental delay. Abnormal MRI findings were observed in the majority of cases.
FIGURE 3: Bar diagram depicting distribution of affected brain structures on MRI. White matter and corpus callosum were the most commonly involved regions.
Developmental delay (DD) remains one of the most frequent and clinically challenging problems encountered in pediatric neurology, alongside cerebral palsy and epilepsy. Owing to its heterogeneous etiologies—ranging from perinatal hypoxic injury to metabolic, genetic, and structural brain disorders—neuroimaging plays a pivotal role in etiological stratification and prognostication. Magnetic resonance imaging (MRI), with its superior soft-tissue contrast and multiplanar capability, has emerged as the cornerstone investigation in the evaluation of children with global developmental delay (GDD), while advanced techniques such as magnetic resonance spectroscopy (MRS) offer additional metabolic insights in selected cases. Diagnostic Yield of MRI in Developmental Delay The present analysis demonstrates a consistently high diagnostic yield of MRI, with abnormal findings reported in 73–81% of children across contemporary Indian studies. Bhavana et al. (2023) documented abnormal MRI findings in 79% of children with developmental delay (12), closely paralleling the findings of Usmani et al. (2025), who reported abnormalities in 81% of cases (13), and Sreedhar and Sairam (2024), who observed abnormalities in 73% of children (14). Similarly, Das et al. (2024) identified abnormal MRI findings in approximately 73% of children below five years of age (15). These figures align with earlier Indian and international literature, where abnormal MRI yields ranged from 58% to over 80%, depending on study population and referral bias (16–19). The consistency of these findings reinforces MRI as an indispensable first-line investigation in children presenting with developmental delay. Predominance of Neurovascular and Hypoxic–Ischemic Etiologies Across all reviewed studies, neurovascular and hypoxic–ischemic injury emerged as the most frequent etiological category. Bhavana et al. reported neurovascular or hypoxic–ischemic changes in 52% of cases (12), while Usmani et al. identified neurovascular or traumatic lesions in 59% of children (13). Sreedhar and Sairam similarly reported neurovascular abnormalities in 48% of cases (14), and Das et al. observed hypoxic–ischemic injury as the leading cause in 32.7% of children below five years (15). Earlier studies corroborate these observations. Ali et al. (2015) reported hypoxic–ischemic encephalopathy as a leading cause of abnormal MRI in pediatric developmental delay (16), while Singh et al. (2022) identified hypoxic insult in 56.8% of children with delayed motor milestones (17). These findings highlight the substantial contribution of perinatal asphyxia, prematurity, and early childhood brain insults to neurodevelopmental impairment in low- and middle-income settings. Age and Gender Distribution Most studies demonstrated a peak prevalence of developmental delay in early childhood, particularly between 1–5 years of age. Bhavana et al. observed the highest burden in the 1–3-year age group (12), whereas Usmani et al. and Sreedhar et al. reported maximum cases between 3–6 years (13,14). Das et al. similarly identified a predominance in children aged 2–5 years (15). These findings emphasize early childhood as a critical diagnostic window during which structural abnormalities become clinically evident. A male predominance was noted across multiple studies, including Bhavana et al. (55% males) (12), Usmani et al. (56% males) (13), and Habibullah et al. (2019), who reported higher MRI abnormality rates in males (18). This gender skew is consistent with broader epidemiological observations suggesting increased vulnerability of the male brain to developmental insults. Structural Brain Involvement Patterns The white matter, ventricles, and corpus callosum were the most frequently involved structures across studies. White matter abnormalities were reported in 53–63% of cases by Bhavana et al. and Usmani et al. (12,13), while Das et al. and Sreedhar et al. noted corpus callosum involvement in 60–61% of children (14,15). Diffuse thinning and partial agenesis of the corpus callosum were particularly prominent in younger children, reflecting disturbances in commissural development. These findings are concordant with Widjaja et al. (2008), who emphasized white matter pathology as a dominant imaging feature in idiopathic developmental delay (19), and with systematic reviews by Al-Maawali et al. (2017), which identified white matter lesions as the most common MRI abnormality in children with GDD (20). Association with Seizures and “Developmental Delay Plus” Phenotype A strong correlation between seizures and abnormal MRI findings was consistently observed. Usmani et al. reported seizures in 36% of children, with a significantly higher rate of abnormal MRI among those with epilepsy (13). Sreedhar and Sairam demonstrated that 90.7% of children with seizures had abnormal MRI findings, compared with only 42.9% in children without seizures (14). Similar associations were reported by Alamri et al., who found abnormal MRI in 70% of children with GDD, particularly in those with motor deficits, cranial nerve abnormalities, or dysmorphic features (21). Children classified as having “developmental delay plus”—those with additional neurological or systemic features—consistently showed higher MRI abnormality rates than children with isolated developmental delay (14,21). These observations underscore the importance of early neuroimaging in high-risk clinical phenotypes. Role and Limitations of MR Spectroscopy The incremental value of MRS showed heterogeneous results across studies. Usmani et al. demonstrated abnormal neurometabolite ratios in 68% of children with normal MRI, with reduced NAA/Cr and elevated Cho/Cr ratios indicating neuronal loss and gliosis (13). Rajvanshi et al. similarly reported that MRS detected abnormalities in nearly two-thirds of MRI-negative children, particularly in those with “DD plus” phenotypes (22). In contrast, Bhavana et al. found no significant metabolite differences in children with normal MRI (12), and Sreedhar et al. reported limited additional diagnostic yield of MRS due to technical constraints, motion artifacts, and sedation requirements (14). These contrasting results suggest that the utility of MRS is highly dependent on patient selection, age, clinical phenotype, and technical execution, and should be employed judiciously rather than routinely. Normal MRI and the Need for Multidisciplinary Evaluation Across all studies, 21–27% of children exhibited normal MRI findings despite clear developmental delay (12–15). This subgroup likely represents children with metabolic, genetic, functional, or microstructural abnormalities not detectable on conventional MRI. Current guidelines and expert reviews emphasize that normal MRI does not exclude significant neurodevelopmental pathology and warrants further evaluation through metabolic screening, genetic testing, and, where appropriate, advanced imaging modalities such as diffusion tensor imaging or functional MRI (20,21,23).
Developmental delay remains a common and clinically significant problem in pediatric practice. Magnetic resonance imaging of the brain is an indispensable diagnostic tool in the evaluation of children with developmental delay, providing high diagnostic yield and enabling identification of underlying structural and etiological abnormalities. In the present study, neurovascular and hypoxic–ischemic insults emerged as the most frequent causes, with predominant involvement of white matter, ventricles, and corpus callosum. The presence of a substantial proportion of children with normal MRI findings highlights the importance of a multidisciplinary diagnostic approach, including clinical, metabolic, and genetic evaluation. Early and systematic neuroimaging facilitates accurate etiological classification, guides management strategies, and supports effective parental counseling. MRI should therefore be considered a first-line investigation in children with developmental delay, particularly in those with additional neurological features or seizures.
LIMITATIONS
This study has certain limitations that should be acknowledged. Being a single-center study, the findings may not be fully generalizable to the broader population. The sample size was relatively limited, which may have affected the statistical power for subgroup analysis. Follow-up neuroimaging was not performed; therefore, the progression or evolution of imaging findings over time could not be assessed. Although MRI provides excellent structural detail, advanced imaging techniques such as diffusion tensor imaging, functional MRI, and routine proton MR spectroscopy were not performed in all cases due to feasibility constraints, motion artifacts, and the need for sedation in younger children. Additionally, genetic and metabolic evaluations were not uniformly available for all children with normal MRI findings, which may have led to underestimation of non-structural etiologies.