intellectual developmental disorder 62

Intellectual developmental disorder 62 is a neurodevelopmental condition primarily characterized by challenges in cognitive function and developmental delays. This disorder is associated with alterations in the DLG4 gene, which plays a critical role in synaptic organization and signaling. Affected individuals typically present in early childhood with intellectual disability, along with various neurological and physical features. Although precise prevalence data is not available, the variability in presentation underscores the individualized nature of the condition.

The clinical presentation of intellectual developmental disorder 62 is marked by consistent features such as intellectual disability and scoliosis, which are virtually always present. In addition, a substantial number of affected individuals may exhibit autistic behavior, seizures, and other neurological issues, including difficulties in cognition and communication. Other features observed in a subset of individuals include pes planus, cerebellar vermis atrophy, strabismus, joint hypermobility, increased arm span, striae distensae, and disproportionate tall stature. Not all individuals experience all features, and severity varies considerably, reflecting variable expressivity.

This condition is caused by pathogenic variants in the DLG4 gene, which is essential for proper synaptic function in the brain. Intellectual developmental disorder 62 is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene can lead to the condition. As with many autosomal dominant disorders, there may be considerable variability in the presentation of symptoms among affected family members, and not all individuals with a variant will exhibit the full spectrum of clinical findings.

Currently, management focuses on supportive care and symptom management, with treatment strategies tailored to the individual’s unique set of symptoms. A multidisciplinary approach involving developmental specialists, neurologists, and therapists is essential to address cognitive, behavioral, and physical challenges, including seizure management when necessary. Genetic counseling is recommended to help families understand the autosomal dominant inheritance pattern and discuss implications for family planning. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their situation.

The course of intellectual developmental disorder 62 is highly variable, with outcomes depending on the severity of symptoms, age at diagnosis, and access to appropriate care. With current standards of care, many individuals benefit from supportive therapies that enhance quality of life and foster improved developmental outcomes. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with neurodevelopmental conditions and to seek genetic counseling for guidance on long-term management and family planning.

Clinical trials are underway exploring new treatment approaches for intellectual developmental disorder 62, reflecting an active area of research in neurodevelopmental disorders. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and emerging therapies.