developmental and epileptic encephalopathy, 86

Developmental and epileptic encephalopathy, 86 is a severe neurological condition marked by profound developmental challenges and epileptic seizures. The condition is caused by pathogenic variants in the DALRD3 gene and follows an autosomal recessive inheritance pattern, meaning that two copies of the gene variant, one inherited from each parent, are required for an individual to be affected. It manifests early in life with signs affecting both brain development and motor function, and both males and females are equally affected. Precise prevalence estimates are not well established, and the clinical presentation can vary considerably between affected individuals.

Individuals with developmental and epileptic encephalopathy, 86 display a range of neurological and developmental features. Consistently reported characteristics include oligohydramnios, generalized amyotrophy, dystonia, myoclonic seizures, and generalized hypotonia. They also experience severe global developmental delay accompanied by absent speech, which reflects significant cognitive and developmental challenges. Additional features such as the need for gastrostomy tube feeding in infancy, microcephaly, small size for gestational age, and CNS hypomyelination are observed in a subset of affected individuals. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the DALRD3 gene, which plays a role in the proper development and function of the brain. It follows an autosomal recessive pattern, which means that an affected individual has received one copy of the altered gene from each parent. Parents who are carriers of a single variant typically do not show symptoms; however, if both parents carry the variant, there is an increased likelihood of having an affected child. Genetic counseling is recommended for families to better understand the implications for family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Care is tailored to each individual and typically involves a multidisciplinary team to address neurological, developmental, and feeding challenges. Supportive strategies may include seizure management, physical and occupational therapy, and other interventions to promote overall well-being. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate and genetic counseling is recommended to provide guidance regarding the inherited aspects of the condition.

Developmental and epileptic encephalopathy, 86 is a lifelong condition characterized by significant neurodevelopmental challenges. Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care, and severity and symptoms vary widely between individuals. With current standards of care, many affected individuals experience ongoing developmental and neurological challenges, although supportive therapies can help improve quality of life. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with neurologists and genetic counselors who are familiar with this condition.