What are the best treatments for 22q13 deletion / Phelan-McDermid Syndrome?

Treatments for 22q13 Deletion / Phelan-McDermid Syndrome

22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a rare genetic disorder caused by the deletion or mutation of a specific gene on chromosome 22. This syndrome is characterized by developmental delays, intellectual disability, speech and language impairments, and various physical and behavioral features. While there is no cure for 22q13 deletion syndrome, there are several treatments and interventions available to help manage the symptoms and improve the quality of life for individuals with this condition.

Early Intervention

Early intervention is crucial for children with 22q13 deletion syndrome. It involves a multidisciplinary approach that focuses on addressing the developmental delays and promoting optimal growth and development. Early intervention programs typically include therapies such as:

• Physical therapy: Physical therapists work with children to improve their motor skills, coordination, and strength.


• Occupational therapy: Occupational therapists help children develop skills necessary for daily activities, such as self-care, fine motor skills, and sensory integration.


• Speech therapy: Speech-language pathologists assist children in improving their communication skills, including speech production, language comprehension, and social communication.


• Behavioral therapy: Behavioral therapists provide strategies to manage challenging behaviors, improve social skills, and enhance overall functioning.

Education and Individualized Learning Plans

Children with 22q13 deletion syndrome often require specialized educational support. Individualized Education Programs (IEPs) or Individualized Learning Plans (ILPs) are developed to address the unique needs of each child. These plans outline specific educational goals, accommodations, and modifications to ensure the child receives appropriate educational support. It may involve:

• Special education services: Children may benefit from attending special education programs that provide tailored instruction and support.


• Assistive technology: The use of assistive devices, such as communication boards or tablets, can help individuals with communication difficulties to express themselves effectively.


• Modified curriculum: Adapting the curriculum to suit the individual's learning style and abilities can facilitate their educational progress.

Medical Management

Individuals with 22q13 deletion syndrome may have various medical issues that require ongoing management. Regular medical check-ups and consultations with specialists are essential. Some common medical concerns associated with this syndrome include:

• Seizure management: Antiepileptic medications may be prescribed to control seizures, and regular monitoring is necessary to adjust the treatment as needed.


• Sleep disturbances: Sleep problems are common in individuals with 22q13 deletion syndrome. Sleep studies and interventions, such as establishing a consistent bedtime routine, may be recommended.


• Gastrointestinal issues: Some individuals may experience gastrointestinal problems, such as reflux or constipation. Dietary modifications, medications, and regular monitoring can help manage these issues.


• Psychiatric support: Individuals with 22q13 deletion syndrome may be at an increased risk of developing psychiatric conditions, such as anxiety or mood disorders. Psychiatric evaluations and appropriate interventions, including therapy and medication, may be necessary.

Supportive Therapies

In addition to the core interventions, several supportive therapies can benefit individuals with 22q13 deletion syndrome:

• Music therapy: Music therapy can help improve communication, social skills, and emotional expression.


• Art therapy: Art therapy provides a creative outlet for self-expression and can enhance emotional well-being.


• Animal-assisted therapy: Interactions with animals, such as therapy dogs, can promote socialization, reduce anxiety, and improve overall mood.


• Social skills training: Social skills groups or individual training can help individuals with 22q13 deletion syndrome develop appropriate social interactions and improve their relationships with peers.

It is important to note that the specific treatments and interventions for 22q13 deletion syndrome may vary depending on the individual's unique needs and symptoms. Therefore, a comprehensive evaluation by a team of healthcare professionals is essential to develop an individualized treatment plan.