In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in the Netherlands, making CHARGE an official syndrome.

[6] Although genetic testing positively identifies nearly two thirds of children with CHARGE syndrome, diagnosis is still largely clinical.

For example, if the diagnosis is made based on the abnormal appearance of the ears and developmental delay, it is important to check the child's hearing, vision, heart, nose, and urogenital system.

Recent research led by Yu Liang from Shijiazhuang Fourth Hospital and Sijie He from BGI Genomics, highlighted the use of prenatal ultrasound to detect CHARGE syndrome.

Key findings indicated the difficulty in diagnosing CHARGE syndrome without genetic testing,[7] as mutations in the CHD7 gene are not always listed in public databases.

Trio-WES analysis confirmed a de novo mutation in the newborn, emphasizing the importance of early diagnosis for effective management.

The study underscores the significance of early prenatal diagnosis through ultrasound examinations and specialized genetic testing.

[7] This approach facilitates timely interventions and enhances understanding of rare genetic conditions, improving diagnostic protocols for CHARGE syndrome and similar disorders.

Early intervention, such as occupational, speech-language, and physical therapy, to improve static posture, ambulation, and self-care skills is important.

An important step in dealing with abnormal behavior is understanding why it is occurring and helping the child learn more appropriate methods of communicating.