Cerebral palsy (CP) is a complex neurological disorder primarily characterized by impaired movement and posture due to brain injury or abnormal brain development. The question of whether CP is genetic or caused by medical negligence has been a subject of extensive research and debate. Current scientific evidence shows that **cerebral palsy is neither solely genetic nor purely man-made by negligence; rather, it results from a combination of genetic factors, prenatal and perinatal events, and sometimes postnatal influences**.
### Genetic Contributions to Cerebral Palsy
Recent advances in genetics have significantly reshaped our understanding of CP. Historically, CP was often attributed to birth complications such as oxygen deprivation (hypoxia) during delivery. However, large-scale genetic studies have revealed that **at least a quarter of CP cases have a strong genetic basis**, challenging the traditional view that birth asphyxia is the main cause[2].
Researchers from the University of Adelaide conducted the world’s largest study on CP genetics and found that **rare gene mutations and genetic defects are responsible for more than 25% of CP cases in children**, particularly in Chinese populations studied[2]. These mutations can be inherited or arise spontaneously (de novo mutations) during the formation of eggs or sperm or early embryonic development[4]. Such mutations can disrupt normal brain development or function, leading to the motor impairments seen in CP.
Specific genes have been identified that, when mutated, cause forms of CP or CP-like syndromes. For example, variants in genes such as **DHX37** and **NSRP1** have been linked to severe neurodevelopmental disorders with spastic cerebral palsy and epilepsy[5]. Other genetic variants, like those affecting the **ITPR1** gene, can mimic CP symptoms but represent distinct genetic disorders[6].
### Metabolic and Molecular Pathways Linked to CP
Beyond single gene mutations, metabolic studies have identified biochemical markers and pathways associated with CP risk. A Mendelian randomization study analyzing over 1,700 metabolites in blood and cerebrospinal fluid (CSF) found dozens of metabolites linked to CP risk, including both protective and harmful effects[1][3]. For instance, **methionine sulfone** was identified as a protective metabolite in both serum and CSF, suggesting it could be a biomarker or therapeutic target[1][3].
Key metabolic pathways implicated include **glyoxylate and dicarboxylate metabolism** and **butyrate metabolism**, which influence cellular energy production and inflammation—processes critical for brain development and injury response[1][3]. These findings highlight that CP may arise from complex interactions between genetic predispositions and metabolic dysfunction.
### Role of Medical Negligence and Environmental Factors
While genetics plays a significant role, CP can also result from **environmental factors and medical events**, particularly those occurring before, during, or shortly after birth. These include:
– **Intrauterine factors:** infections, inflammation, or developmental abnormalities during pregnancy.
– **Peripartum factors:** complications during labor and delivery, such as premature birth, low birth weight, or oxygen deprivation.
– **Postnatal factors:** brain infections, trauma, or severe jaundice in newborns.
However, it is important to note that **in many cases, the exact cause of CP remains unknown**, and only a minority of cases are directly attributable to clear medical negligence or preventable birth injuries[7]. Advances i
