Syndrome Name:22q11.2 Deletion Syndrome 3 Examples of common supportive strategies: Common strengths:( min of 3) Key Physical Features:Interesting facts:It is also called DiGeorge Syndrome and Velo-Cardio-Facial Syndrome. It is caused by the deletion of a small segment from chromosome 22, which is called a microdeletion. Only one affected chromosome that is autosome is enough for the condition to occur. 1. Behavior modification techniques can be applied. 2.
We can use alternative communication strategies for non-verbal children, including mouth opening and closing exercises.3. We can provide guidance for oral-airflow for non-speech activities as a visual aid. This will work as a foundation for increasing oral-airflow during the production of phonemes. 4. Multiple medications also helpful. 1.
Better experiential than auditory learners- it means they can learn more effectively through practical work than listening instructions.2. The Relative asset in verbal learning.3.
Able to recognize verbal contents.4. Capable to learn by memorization techniques like repetition.5. Some can study in normal schools and prefer independent play. Facial features- Have small mouth, head, chin and side areas of the tip of the nose.
– Openings of eyes and ears are also small with the squared upper ear.- Eyelids are hooded.- Palatal abnormalities.- Flat midface and smooth philtrum.- The Upper lip is thinner than the lower lip. Bluish skin due to the lack of circulation of blood having oxygen.Congenital heart diseases and kidney abnormalities.
Causes: Known or suspected factors resulting in a developmental or intellectual disability Risk Factors:Factors increasing the risk of having a child with a developmental delay (contributing factors) Prevention and/or Early Intervention Strategies Common developmental or intellectual characteristics/adaptive functioning considerationsIt is typically occurred due to the missing of 30 to 40 genes in the middle of chromosome 22 at the location called 22q11.2. This syndrome also a result of a new mutation in chromosome 22 during early development. – If the mother already has the deletion of genes in chromosome 22.- Approximately 90% of cases of this syndrome result from a new mutation. – Genetic counseling is provided by a trained genetic counselor to the individuals having 22q11.
2 DS to help them to understand the significance of the disorder.- Antibiotics are used to treat bacterial infections. – Experience difficulties with speech and language development.- Most students are in the borderline IQ range.- They face learning difficulties in mathematics, reading comprehension and language.Common Communication Characteristics Common Social characteristics Common Behavioural Considerations Other significant specific considerations- across the life span- children, adults, seniors – Children having 22q11.
2 DS do not perform well on speech and language evolutions because about 60% of children have palatal abnormalities.- They face problems like speech sound errors, delay in language and limited vocabulary.- Articulation errors- they are not able to speak fluently or clearly.
– They are unable to share and express their needs.- Lack of social skills like responding to others.- Not able to manage and schedule personal responsibilities. – They are very shy by nature.- They are not able to act in a natural way.- They are phobic and startle easily.
– They have tactile defensiveness. – Evaluation should be conducted and repeated regularly using standard screening tools.- Additional support and assistance are needed in the schools.
– They will need financial support.Sources /References: Include the textbook page numbers and other sources used. https://en.wikipedia.org/wiki/DiGeorge-Syndrome www.
22q.cawww.sickkids.ca Text page # 237, 239, 240 http://www.
moneylandforum.com/5460/digeorge-syndrome-symptoms-treatment (picture source)Student Name: Parmpreet Kaur Sandhu Date submitted: Oct. 12, 2018** This quick reference fact sheet must be uploaded through Blackboard and is worth 10%