Rare DiseasesBarakat Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Management

Barakat Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Management

Barakat Syndrome, also known as CHARGE Syndrome, is a rare genetic disorder that is present from birth. This syndrome is characterized by a range of physical and neurological symptoms and can affect multiple body systems. The word “CHARGE” is derived from the first letters of the English words that describe the main symptoms that make up this syndrome:

  • C – Coloboma
  • H – Heart defects
  • A – Atresia choanae
  • R – Retardation of growth and/or development
  • G – Genital and/or urinary abnormalities
  • E – Ear abnormalities and hearing loss

The severity and type of symptoms can vary greatly among individuals with CHARGE Syndrome. The main cause of CHARGE Syndrome is a mutation or alteration in the CHD7 gene. The diagnosis of CHARGE Syndrome is based on symptoms and clinical findings. Treatment can vary depending on the symptoms and may require a multidisciplinary approach.

Causes of Barakat Syndrome

Barakat Syndrome is caused by a genetic disorder and is associated with mutations or alterations in the CHD7 gene. These mutations disrupt the normal function of the gene and can lead to abnormal development in various organs and tissues in the body. The specific gene mutation that causes CHARGE Syndrome and how these mutations occur can vary from person to person. CHARGE Syndrome mostly occurs as a result of spontaneous mutations and is found in individuals without a family history. However, it can also be present in individuals with a family history in rare cases. Furthermore, research is ongoing on genetic and environmental factors that may increase the risk of CHARGE Syndrome.

Symptoms of Barakat Syndrome

The symptoms of Barakat Syndrome may include:

  • Hearing loss
  • Eye abnormalities
  • Nasal abnormalities
  • Cardiac abnormalities
  • Facial and neck abnormalities
  • Swallowing and feeding difficulties
  • Mental developmental delay
  • Genital abnormalities
  • Respiratory problems
  • Sensory and motor problems

Diagnosis of Barakat Syndrome

The diagnosis of Barakat Syndrome involves evaluating a series of clinical signs and symptoms and is often carried out by specialist doctors:

Physical Examination: The doctor carefully evaluates the patient’s symptoms and physical signs.

Detailed Medical History: Medical information such as the patient’s birth history, developmental history, and family history is collected.

Genetic Tests: Genetic tests can be performed as the cause of Barakat Syndrome is a genetic mutation or alteration.

Imaging Tests: Imaging tests such as computed tomography or magnetic resonance imaging can help evaluate internal organs and structure.

Hearing Evaluation: Hearing loss is a common feature of Barakat Syndrome.

Cardiac Evaluation: Most individuals with Barakat Syndrome have cardiac anomalies.

Eye Examination: Eye examinations are performed to detect eye anomalies and problems.

Other Special Tests: Depending on the symptoms, special tests such as swallowing tests to evaluate swallowing difficulties or respiratory tests to examine respiratory problems may be required.

Treatment of Barakat Syndrome

The treatment approach for Barakat Syndrome is personalized based on the type and severity of symptoms:

Hearing Aids and Cochlear Implants: Hearing aids or cochlear implants may be used for individuals with hearing loss.

Surgical Interventions: Structural problems such as ear or eye anomalies in some individuals with Barakat Syndrome may require surgical intervention.

Cardiac Surgery: Individuals with cardiac anomalies may require cardiac surgery.

Physical Therapy and Rehabilitation: Physical and motor coordination problems are common in individuals with Barakat Syndrome, so physiotherapy and rehabilitation programs may be recommended.

Swallowing and Feeding Therapy: Swallowing therapy and special diets can be arranged for individuals with swallowing difficulties and feeding problems.

Special Education: Special education and support can be provided for individuals with intellectual disability or cognitive development problems.

Respiratory Treatments: Respiratory treatments or devices may be used for individuals experiencing respiratory problems.

Eye Care: Regular eye examinations and eye care are important for individuals with eye anomalies or problems.

Family Support: Psychosocial support and information should be provided to families living with Barakat Syndrome.

Management of Barakat Syndrome

The management of Barakat Syndrome should be personalized based on the individual’s symptoms and healthcare needs:

Regular Doctor Check-ups: Regular monitoring and check-ups by specialist doctors are important for individuals with Barakat Syndrome.

Education and Support: Education is crucial for individuals with Barakat Syndrome.

Physical Therapy and Rehabilitation: Physiotherapy and rehabilitation programs may be recommended for individuals with physical and motor coordination problems.

Hearing and Vision Support: Support such as hearing aids, cochlear implants, and special vision education should be provided for individuals with hearing loss or vision problems.

Nutrition and Swallowing Therapy: Swallowing therapy and special diets can be arranged for individuals with swallowing difficulties and feeding problems.

Respiratory Treatments: Respiratory treatments or devices may be used for individuals experiencing respiratory problems.

Eye Care: Regular eye examinations and eye care should be provided for individuals with eye anomalies or problems.

Psychosocial Support: Psychosocial support should be provided for individuals with Barakat Syndrome and their families.

Family Collaboration: Families are the best advocates and managers of the individual’s needs.

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