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This revision: 9th May 2013 .
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22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly,[2][3] velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome,


22q11.2 deletion syndrome affects between 1 in 2000 and 1 in 4000 live births.[4] This estimate is based on major birth defects and may be an underestimate, because some individuals with the deletion have few symptoms and may not have been formally diagnosed.

It is one of the most common causes of mental retardation due to a genetic deletion syndrome.[15]

Cognitive impairments

Children with 22q11.2 have a specific profile in neuropsychological tests. They usually have a borderline normal IQ with most individuals having higher scores in the nonverbal than the verbal domains.

Speech and language

Current research demonstrates there is a unique profile of speech and language impairments associated with 22q11.2 deletion syndrome. Common problems include hypernasality, language delays, and speech sound errors.[17][18][19]

Hypernasality occurs when air escapes through the nose during the production of oral speech sounds resulting in reduced intelligibility. This is a common characteristic in the speech and language profile because 69% of children have palatal abnormalities.

Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output.

Difficulties acquiring vocabulary and formulating spoken language (expressive language deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion.

School age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences.

Receptive language can also be impaired although not usually with the same severity as expressive language impairments.[18][21][22][23]

Articulation errors are commonly present in children with 22q11.2 deletion syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility.

The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures.[17][21]

Useful Links

C22 Central

Chromosome 22 Central is a registered charity based in Canada but with an international perspective. Their organisation promotes networking, information sharing around all C22 Disorders. Their website provides the best starting point for general research into C22 disorders.

Max Appeal

UK based support organisation for DiGeorge, VCFS and related Syndromes. Their website provides very useful factsheets and links.

Phelan-McDermid Syndrome

Phelan-McDermid Syndrome (22q13 Deletion Syndrome) is a rare condition, this support group for families looks worldwide and was initiated by Dr Phelan.

Max Appeal Educational Factsheet

Factsheet from Max Appeal providing an excellent overview of educational issues for children with 22q11 deletions

VCFS Educational Foundation

An NFP organisation providing support and information to families and professionals of children affected by Velocardiofacial Syndrome

CHOP 22q and You

Children's Hospital of Philadelphia website which has a section with much useful information on 22q disorders.

Language Skills in Children with VCFS

Research Paper from Standford Uni examing the language skills of children with Velocardiofacial Syndrome

Cat Eye Syndrome

Link to NIH site in the US. Cat Eye (Schmid-Fraccaro) Syndrome is a rare C22 disorder. This page lists a number of medical papers and references.

Emanuel Syndrome

Link to the US NIH website. Emanuel Syndrome aka Supernumerary DER(22) Syndrome is a rare C22 disorder. These page provides a number of largely medical references.

Trisomy 22

Page of reference articles on Trisomy 22 from the C22C Website

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