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Association of apolipoprotein ε4 allele with intellectual disability in children with cerebral palsy
N Sreedevi1, N Swapna2, Santosh Maruthy1, Rajesh Kundapur3, Charles Sylvester3
1 Professor, Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India
2 Professor, Department of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysore, Karnataka, India
3 Scientist, Unit for Human Genetics, All India Institute of Speech and Hearing, Mysore, Karnataka, India
Correspondence Address:
Charles Sylvester,
Unit for Human Genetics, All India Institute of Speech and Hearing, Mysuru, Karnataka
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/amh.amh_131_22
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Background: The apolipoprotein E (ApoE) protein is the most essential lipid transporter in the brain which is vital in neurodevelopment. The production of ApoE is regulated by several genes and increases under certain conditions such as cerebral injury. This study was carried out to assess the association between APOE alleles on intellectual disability (ID) and assess their relationship with cerebral palsy (CP) in south Indian children.
Materials and Methods: The participants (n = 45) were children aged 1–15 years of age, who were diagnosed with CP and presenting with speech or hearing impairment. All patients were of South Indian descent. Family history, medical history, clinical investigations, and cognitive abilities of the patients were recorded. Exome sequencing of the APOE gene was performed.
Results: APOE ε4 allele was detected in 9/45 (P = 0.002) CP patients. Both carriers and noncarriers of the ε4 allele had mild-, moderate-, severe-, and profound intellectual disabilities.
Conclusion: The role of APOE ε4 as a possible biomarker in cognition decline in CP is still questionable, but the ε4 allele as a potential risk factor for developing Alzheimer's disease is strongly relevant. Further studies are warranted to study the association of the APOE ε4 allele in CP and ID.
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