What is DiGeorge Syndrome?

 

•             Impact on Learning: You correctly state that DiGeorge Syndrome affects learning and can be considered a learning disability, similar to how other learning disabilities impact cognitive development. Individuals may learn at a different pace than their peers.

•             Physical Effects: You emphasize that the syndrome primarily affects people physically.

•             Genetic Origin: It's a genetic condition present from birth.

Cause:

•             Missing DNA: The primary cause is a missing segment of DNA, which disrupts the body's genetic coding.

•             Inheritance: In about 10% of cases, it can be inherited from a parent with DiGeorge Syndrome, originating from the egg or sperm.

Variability of Impact:

•             Individual Differences: Each person with DiGeorge Syndrome experiences the condition differently in terms of severity.

•             Unpredictable Severity: It's difficult to predict how seriously an individual will be affected.

•             Range of Outcomes: Some children may become severely ill, with varying chances of recovery, while others might live their lives without even knowing they have the condition.

•             Adult Independence: Adults with DiGeorge Syndrome often lead independent lives.

Associated Problems (though not everyone with DiGeorge Syndrome will have all of these):

•             Learning and Behavior Problems: This aligns with its classification as a learning disability.

•             Autism Spectrum Disorder (ASD) and attention deficit hyperactivity disorder (ADHD): These neurodevelopmental conditions can co-occur

 with DiGeorge Syndrome.

•             Speech Problems: Including ear infections and slow speech development.

•             Feeding Difficulties: Issues with eating and swallowing.

•             Heart Problems: Congenital heart defects are a common feature.

•             Hormone Problems: Endocrine system abnormalities.

•             Thrush and Chest Infections: Increased susceptibility to certain infections.

•             Arthritis and Rheumatoid Issues: Musculoskeletal problems.

•             Anxiety and Schizophrenia: Mental health conditions that can be associated with the syndrome.

Key Takeaways:

•             Genetic Basis: DiGeorge Syndrome is rooted in a specific genetic anomaly (missing DNA).

•             Dual Impact: It affects both cognitive development (learning) and physical health.

•             Wide Spectrum: The severity and specific manifestations of the syndrome vary significantly from person to person.

•             Potential Co-occurring Conditions: Individuals with DiGeorge Syndrome have an increased risk of developing other conditions, including neurodevelopmental and mental health disorders.

•             Importance of Awareness: Understanding DiGeorge Syndrome is crucial for early diagnosis, appropriate medical management, and tailored educational and behavioral support.

The links you provided to the AAAAI (American Academy of Allergy, Asthma & Immunology) and Mencap offer valuable resources for further information on the symptoms, diagnosis, and support for DiGeorge Syndrome. The mention of WWW.humanitas.net suggests another potential source of information.

 

DiGeorge Syndrome (22q11.2 Deletion Syndrome) - Quiz Style Study Notes

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1. What chromosome is affected in DiGeorge Syndrome?
Answer: Chromosome 22q11.2 deletion

2. What is the mnemonic used to remember symptoms?
Answer: CATCH-22

3. What does CATCH-22 stand for?

·         C: Cardiac defects (e.g., Tetralogy of Fallot, VSD)

·         A: Abnormal facies (distinctive facial features)

·         T: Thymic hypoplasia (leads to immune deficiency)

·         C: Cleft palate (or velopharyngeal insufficiency)

·         H: Hypocalcemia (due to parathyroid hypoplasia)

4. What is a common immune system issue in DiGeorge Syndrome?

5. Why do patients often have seizures?

6. What heart defects are commonly seen?

·         Tetralogy of Fallot

·         Interrupted aortic arch

·         Truncus arteriosus

7. Is DiGeorge Syndrome inherited or spontaneous?
Answer: Often spontaneous, but can be inherited in an autosomal dominant pattern

8. How is it diagnosed?
Answer: Genetic testing with FISH or microarray to detect 22q11.2 deletion

9. What developmental and learning issues might occur?
Answer: Speech delays, learning disabilities, behavioral issues

10. What facial features are associated with DiGeorge Syndrome?
Answer: Low-set ears, hooded eyelids, small chin, wide nasal bridge