22q13 Deletion Syndrome

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Description

22q13 Deletion Syndrome, also known as Phelan-McDermid Syndrome, is a rare genetic disorder caused by a missing piece of chromosome 22. This deletion affects various developmental aspects, leading to a range of physical, cognitive, and behavioral challenges. Understanding the intricacies of 22q13 Deletion Syndrome is crucial for early diagnosis, appropriate management, and maximizing individual potential.

Genes Involved

Genes Involved:

The deleted region on chromosome 22 harbors numerous genes, but the SHANK3 gene is considered the primary contributor to the syndrome‘s core features. This gene plays a crucial role in the development and function of synapses, the connections between neurons in the brain. Variations in the SHANK3 gene are associated with developmental delays, intellectual disability, and social communication challenges.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

Individuals with 22q13 Deletion Syndrome exhibit a spectrum of symptoms, but common features include:

• Developmental Delays: Significant delays in speech, language, and motor skills are prevalent.
• Intellectual Disability: A range of intellectual abilities is observed, from mild to severe.
• Behavioral Characteristics: Challenges with social interaction, attention, and impulsivity may be present.
• Physical Features: Distinctive facial features like a small jaw, upturned nose, and widely spaced eyes may be observed.
• Feeding Difficulties: Issues with swallowing, sucking, and feeding may occur in infancy.
• Sleep Disturbances: Difficulty sleeping and frequent awakenings are common.
• Seizures: While not always present, seizures can occur in some individuals.
• Gastrointestinal Issues: Constipation and reflux are relatively frequent.

Causes

Causes:

22q13 Deletion Syndrome is caused by a deletion of a segment of genetic material on chromosome 22. This deletion occurs randomly during the formation of eggs or sperm, and it‘s not typically inherited from parents.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

The deletion is usually a spontaneous event, meaning it doesn‘t run in families. The risk of having another child with 22q13 Deletion Syndrome is low. However, genetic counseling is recommended for families with a history of the syndrome to understand the recurrence risk.