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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.

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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.

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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.

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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

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We have met many wonderful children with 22q. We are grateful to the families who have come forward and shared their stories with us, to gain understanding and shed light on some of the milestones, setbacks, and steps of dealing with the disorder.

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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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Typical course, symptoms, and related conditions: 

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Typical course, symptoms, and related conditions: 

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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.

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-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

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D82.1

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It is a rare disorder affecting males and females equally and occurring in 1 of every 3,000-4,000 births.

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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

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https://youtu.be/JRNEogI7P-g

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Early Intervention Team
Speech and Language therapist
Physical Therapist
Occupational therapy
Neurologist

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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?

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What client factors/ performance skills would be addressed? 

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What client factors/ performance skills would be addressed? 

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-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)