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Updated: May 2, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
[Etiology of mental retardation in children: experience in two third level centers]
Lissete Cabarcas1, Eugenia Espinosa2, Harvy Velasco3
1Servicio de Neurología Pediátrica, Hospital Militar Central, Bogotá, D.C, Colombia.
Insights
Perinatal hypoxia is the leading cause of mental retardation, affecting 36.4% of cases. Genetic factors are the second most common cause, highlighting the need for improved access to genetic studies for accurate diagnosis.
Area of Science:
- Neuropediatrics
- Medical Genetics
- Developmental Pediatrics
Context:
- Mental retardation affects 1-3% of the global population, presenting a diagnostic challenge in neuropediatric services.
- Etiologic diagnosis remains elusive for a significant proportion of individuals with mental retardation.
Purpose:
- To investigate the specific etiologies of mental retardation in pediatric patients attending neuropediatric services.
- To analyze the prevalence of environmental and genetic causes contributing to cognitive impairment.
Summary:
- A study of 239 pediatric patients revealed that 64.4% received a definitive etiologic diagnosis for mental retardation.
- Environmental factors, particularly perinatal hypoxia, were identified as the most frequent cause (36.4%), followed by genetic etiologies (23.8%).
- Minor anomalies were present in 70.3% of patients, often suggesting a genetic basis.
Impact:
- Perinatal hypoxia is confirmed as the primary cause of cognitive impairment in the studied population.
- Enhanced management of premature infants' comorbidities could reduce motor and cognitive deficits.
- Improved access to and coverage of genetic studies are crucial for decreasing the proportion of undiagnosed cases.
Introduction:
One to three per cent of the world population has mental retardation. This is a frequently consulted and diagnosed disorder in neuropediatric services. Causes are heterogeneous and only a proportion of these patients achieve an accurate etiologic diagnosis.
Objective:
To determine the etiology of patients with mental retardation who go to the neuropediatric services in two third level hospitals.
Materials And Methods:
We included pediatric patients diagnosed with mental retardation, and used the diagnostic algorithm proposed by the committee of medical genetics and the Academy of Pediatrics for the evaluation of these patients. The data were entered into an Excel database and subsequently analyzed in SPSS 1.5. The etiology of cognitive impairment was classified into five categories.
Results:
We included 239 patients: 60.3% were male; according to the severity, 39% of the patients had mild mental retardation, 37.7% had moderate mental retardation, 13.4% had severe mental retardation, and 9.6% had profound mental retardation. In the clinical findings, we found the presence of minor anomalies in 70.3% of patients; these findings in more than two patients suggested a genetic etiology. Definitive etiology of mental retardation was determined in 64.4% of the patients. Environmental causes accounted for 36.4% of this disability in which perinatal hypoxia is the most frequent cause. Genetic causes accounted for 23.8% of the etiology. Finally, 23.8% continued to have no specific diagnosis.
Conclusions:
Perinatal hypoxia is the most common cause of cognitive impairment in our population. Early treatment of comorbidities of premature infants can impact the bottom line by decreasing motor and cognitive impairment in these patients. Patients with genetic etiology are the second cause. The proportion of undiagnosed patients could decrease if patient access to genetic studies were better and if these studies were covered by the social security regime in our country, regardless of affiliation.
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