Difference between revisions of "22q11.2 deletion syndrome natural history, complications and prognosis"

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==Overview==
==Overview==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. Cases involving significant cardiac, thymic, and craniofacial deficits are more easily recognizable than those lacking severe features.


OR
Most patients with DGS may progress to develop severe recurrent infections, autoimmune diseases, and hematologic malignancies.


Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
Prognosis is very poor, if left untreated, most patients die by 12 months of age.  
 
OR
 
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==


===Natural History===
===Natural History===
*The symptoms of (disease name) usually develop in the first/ second/ third decade of life, and start with symptoms such as ___.  
*The symptoms of DGS usually develop in the first year itself and starts with symptoms such as delays in the achievement of developmental milestones.  
*The symptoms of (disease name) typically develop ___ years after exposure to ___.
*'''Other symptoms include :'''
*If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
*Behavioral disturbance
* Cyanosis, exercise intolerance, or symptoms  
* Recurrent infections secondary to T-cell deficiency
* Speech difficulty
* Difficulty feeding and/or failure to thrive
* Muscle spasms, twitching, tetany, seizure
*Later in life, abnormal behavior in the setting of poor developmental history may be the chief presenting symptom of DGS.<ref>McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.</ref>


===Complications===
===Complications===
*Common complications of [disease name] include:
*Common complications of DGS include:
**[Complication 1]
**Severe recurrent infections
**[Complication 2]
**Autoimmune diseases
**[Complication 3]
**Hematologic malignancies.
* Cardiac and craniofacial anomalies associated with DGS may require surgical repair. As with any surgical procedure, the possibility of complications, including bleeding, infection, and prolonged hospitalization, exists. These risks are particularly dangerous for DGS patients with significant immunocompromise.  Consistent follow-up of patients with DGS is necessary to evaluate for these possible complications.


===Prognosis===
===Prognosis===
Less than 1% of patients with 22q11.2 microdeletion have complete DGS, the most severe subtype of DGS with a very poor prognosis. Without thymic or hematopoietic cell transplantation, these patients die by 12 months of age. Even with a transplant, however, prognosis remains poor. In a study of 50 infants who received a thymic transplant for complete DGS, only 36 survived to two years
Patients with partial DGS do not have a defined prognosis, as this depends on the severity of the pathologies associated with the disease. While some do not survive infancy due to severe cardiac anomalies, many survive into adulthood. DGS may be vastly underdiagnosed, and many undiagnosed adults with DGS thrive in the community with undetectable congenital anomalies and minor intellectual and/or social impairment. Improvements in genetic diagnostics will hopefully improve understanding of DGS in the future.


*Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [--]%.
*Without treatment, prognosis is very poor, and most patients die by 12 months of age.Less than 1% of patients with 22q11.2 microdeletion have complete DGS, accounting for the very poor prognosis. n a study of 50 infants who received a thymic transplant for complete DGS, only 36 survived to two years.<ref>Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol. Res. 2009;44(1-3):61-70.</ref>
*Depending on the extent of the [tumor/disease progression] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
*Depending on the type of DGS, as complete or partial and the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor.
*The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
*Partial DGS is associated with the most favorable prognosis, but still not a defined prognosis. Some do not survive infance due to severe cardiac defects and many survive into adulthood.
*[Subtype of disease/malignancy] is associated with the most favorable prognosis.
*The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis.


==References==
==References==

Latest revision as of 23:40, 9 July 2020

22q11.2 deletion syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

Overview

It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. Cases involving significant cardiac, thymic, and craniofacial deficits are more easily recognizable than those lacking severe features.

Most patients with DGS may progress to develop severe recurrent infections, autoimmune diseases, and hematologic malignancies.

Prognosis is very poor, if left untreated, most patients die by 12 months of age.

Natural History, Complications, and Prognosis

Natural History

  • The symptoms of DGS usually develop in the first year itself and starts with symptoms such as delays in the achievement of developmental milestones.
  • Other symptoms include :
  • Behavioral disturbance
  • Cyanosis, exercise intolerance, or symptoms
  • Recurrent infections secondary to T-cell deficiency
  • Speech difficulty
  • Difficulty feeding and/or failure to thrive
  • Muscle spasms, twitching, tetany, seizure
  • Later in life, abnormal behavior in the setting of poor developmental history may be the chief presenting symptom of DGS.[1]

Complications

  • Common complications of DGS include:
    • Severe recurrent infections
    • Autoimmune diseases
    • Hematologic malignancies.
  • Cardiac and craniofacial anomalies associated with DGS may require surgical repair. As with any surgical procedure, the possibility of complications, including bleeding, infection, and prolonged hospitalization, exists. These risks are particularly dangerous for DGS patients with significant immunocompromise. Consistent follow-up of patients with DGS is necessary to evaluate for these possible complications.

Prognosis

  • Without treatment, prognosis is very poor, and most patients die by 12 months of age.Less than 1% of patients with 22q11.2 microdeletion have complete DGS, accounting for the very poor prognosis. n a study of 50 infants who received a thymic transplant for complete DGS, only 36 survived to two years.[2]
  • Depending on the type of DGS, as complete or partial and the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor.
  • Partial DGS is associated with the most favorable prognosis, but still not a defined prognosis. Some do not survive infance due to severe cardiac defects and many survive into adulthood.

References

  1. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
  2. Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol. Res. 2009;44(1-3):61-70.

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