developmental and epileptic encephalopathy, 75

Developmental and epileptic encephalopathy, 75 is a severe neurodevelopmental disorder that primarily affects infants. The condition is linked to pathogenic variants in the PARS2 gene and is inherited in an autosomal recessive pattern. Affected individuals exhibit early-onset seizures, absent speech, feeding difficulties in infancy, and global developmental delay along with secondary microcephaly. Although precise prevalence rates are not established, the constellation of these features indicates a rare and complex condition.

Individuals with this condition typically present with a range of neurological and developmental challenges. Early in life, feeding difficulties and seizures—often accompanied by hypsarrhythmia—are consistently observed. As the condition manifests, affected children show absent speech, global developmental delay, and secondary microcephaly, reflecting significant cognitive and neurological involvement. Some infants may also experience prolonged neonatal jaundice, though this feature occurs less consistently. Not all individuals experience every symptom, and severity varies considerably.

This condition is caused by pathogenic variants in the PARS2 gene, which plays a critical role in cellular processes. Disruption of the protein encoded by PARS2 adversely affects neurological development and overall brain function. The condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the altered gene for the child to be affected. Genetic counseling is recommended for families to understand recurrence risks and to discuss family planning options.

Currently, management focuses on supportive care and symptom management as there are no FDA-approved treatments specifically for this condition. Treatment is tailored to the individual with a multidisciplinary approach, involving specialists who provide care for neurological, developmental, and nutritional needs. Regular surveillance is an essential part of long-term care, helping to monitor for potential complications while addressing seizure management and developmental support. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate, and genetic counseling is recommended for ongoing family support.

The prognosis for developmental and epileptic encephalopathy, 75 varies widely, with outcomes influenced by symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals experience stabilization of symptoms following early challenges, although cognitive and neurological impairments persist. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with complex neurodevelopmental disorders for ongoing support and guidance.