Management

Diagnosis/testing
Diagnosis is based on clinical evaluation and genetic testing. It requires the intervention of a geneticist or physician trained in genetic analysis techniques, for feed-back of the genetic result, recurrence risk and management coordination.

Management and surveillance
Because there are no specific treatments for ADGRL1-related disorder, management and surveillance of patients requires the intervention of a paediatric multidisciplinary team. The aims of the medical follow-up are to assess developmental delay and others clinical features, provide functional rehabilitation (physiotherapist, speech therapist and/or occupational therapist) and educational support, when required.

These recommendations are meant to complement standard health care. Other specialists may be recommended, depending on the symptoms and their severity.