https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss Made with a creative frenzy en-us 2021-10-25 14:00:41 UTC 2026-01-27 02:04:33 UTC hello@padlet.com vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909658956 Also referred to as 22q11.2 Deletion syndrome, is an immunodeficiency disorder characterized by various congenital abnormalities. 

In DGS, the thymus and parathyroid glands are either not fully developed or completely absent. Proper functioning of the immune system relies on the thymus gland. The parathyroid gland is responsible for regulating calcium levels in the blood.




]]> 2021-11-24 02:31:47 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909658956 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909660400 D82.1]]> 2021-11-24 02:32:41 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909660400 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909660899 It is a rare disorder affecting males and females equally and occurring in 1 of every 3,000-4,000 births. ]]> 2021-11-24 02:32:56 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909660899 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909661341 About 90% of individuals with DGS are missing a piece of genetic information on chromosome 22 at the q11 region which is referred to as a deletion on chromosome 11. The other 10% with DGS do not have a deletion. Those cases have been associated with fetal alcohol syndrome, maternal diabetes, prenatal exposure to accutane, and other chromosome defects.

Most of the 22q11 deletions are new occurrences or sporadic. And about 10% are inherited. The gene is autosomal dominant which means that each child born to a person with the gene has a 50% chance of receiving the gene and manifesting the syndrome. ]]> 2021-11-24 02:33:12 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909661341 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909662117 The symptoms of DGS depend on the extent to which the glands are missing. Some individuals can be asymptomatic while others are affected more severely. 

Most common symptoms are recurrent infections, hypocalcemia (low calcium in blood), heart defects, and palate abnormalities (cleft palate). 

Some facial characteristics include hypertelorism (wide-set eyes), down-slanting eyes, low-set auricles (portion of the ears), prominent nose with squared nasal root , and micrognathia (small size of the lower jaw). 

Children with DGS can be impulsive but yet very affectionate and able to function socially. 

Can have learning and psychiatric disorders, behavioral and speech issues as well.



]]> 2021-11-24 02:33:42 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909662117 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909662961 -Mental functions (affective, cognitive, perceptual) 
-Cardiovascular, hematological, immunological
-Voice and speech (digestive, metabolic, and endocrine system  functions)
-Body structures (structures of eyes, ears, skin, those involved with voice and speech, cardiovascular, digestive, and endocrine)]]> 2021-11-24 02:34:14 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909662961 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909663671 Early Intervention Team
Speech and Language therapist 
Physical Therapist
Occupational therapy
Neurologist
 

]]> 2021-11-24 02:34:41 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909663671 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909664344 Model of Human Occupations (MOHO): evaluates communication and interaction skills used to accomplish daily occupations. 

       -Pediatric Volitional Questionnaire (PVQ): a 15-item play-based assessment of a child's motivational strengths and weaknesses in various settings based on the Model of Human Occupations.

      -Assessment of Motor and Process Skills (AMPS): is an observational assessment that is designed to examine interplay between the person, the ADL task, and environment. Area of assessment include ADLs, attention and working memory, executive functioning, balance-vestibular, coordination, gait, occupational performance, and reasoning/ problem solving. ]]> 2021-11-24 02:35:05 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909664344 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909665924 -Impulsiveness: 
     *Activities to help teach executive functioning skills                            
     *Cognitive behavioral therapy, 
     *Copying strategies 
-Learning Disabilities (Depending on disability) : 
     *Organizational skills
     *Handwriting skills 
     *Sensory processing
-Behavioral issues
      *Incorporate play
      *Social participation 
-Education and teaching of eating and communication techniques/skills
     ]]> 2021-11-24 02:36:02 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909665924 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666206 It can be almost impossible to predict which symptoms a child will develop. Caregiver concerns include:

-How to manage cardiac problems in their child and develop energy conservative techniques?
-How to help child deal with society and their facial abnormalities ?
-How to treat Hypocalcemia?
-How to insure child receives proper nutrition due to palate problems: not being able to eat large quantities and gain weight sufficiently ?
-How to address learning disabilities and how to help?


 ]]> 2021-11-24 02:36:13 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666206 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666647 https://youtu.be/JRNEogI7P-g]]> 2021-11-24 02:36:30 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666647 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666935 PVQ assessment tool: 

https://www.tandfonline.com/doi/abs/10.1080/J006v25n01_04

AMPS assessment tool:

https://www.sralab.org/rehabilitation-measures/assessment-motor-and-process-skills

Kennedy Kriegar Institute: DiGeorge Syndrome Factsheet

https://www.kennedykrieger.org/sites/default/files/library/documents/community/specialized-health-needs-interagency-collaboration-shnic/factsheets-medical-conditions/shnic-digeorge-syndrome-factsheet.pdf

Immune Deficiency Foundation: DiGeorge Syndrome 

https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome]]> 2021-11-24 02:36:41 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909666935 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909667256 Boston Childrens Hospital 
https://www.childrenshospital.org/conditions-and-treatments/conditions/d/22q11-2-deletion-syndrome/diagnosis-and-treatment

Faces of 22q (Share your story)
https://22qfamilyfoundation.org/living-with-22q/22q-stories]]> 2021-11-24 02:36:54 UTC https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909667256 vmendoza1795 https://padlet.com/vmendoza1795/k65cmsenkpt3m6ss/wish/1909667920 1. In DiGeorge Syndrome, symptoms depend on the extent of which glands missing?

2. What type of assessment tool best for DiGeorge Syndrome?

3. What percentage of individuals were inherited with DiGeorge syndrome ?

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