Genetic disorder 22q11.2 deletion syndrome
What is it?
22q11.2 deletion syndrome is caused by a missing section (micro-deletion) of chromosome 22 which is present from the time a child is conceived.
How common is it?
It is present in:
- 1 out of every 2,000-4,000 live births
- 1 in 68 children with congenital heart disease
- 5 to 8 per cent of children born with cleft palate.
According to the International 22q11.2 Foundation, the disorder is almost as common as Downs syndrome.
What are its key features?
- heart defects
- palate differences
- immune system deficits
- kidney problems
- growth delay
- cognitive, developmental and speech delays
- behavioral and emotional difficulties
Research recently published by the MIND Institute at the University of California, Davis has suggested that 22q deletion syndrome has been misdiagnosed as Autism.
How does the genetic disorder 22q differ to Autism?
Researchers from the MIND Institute at the University of California, Davis, say that children with 22q11.2 deletion syndrome could be misdiagnosed because the social impairments linked to their developmental delay could “mimic” the features of autism. However, the social impairments associated with children with the 22q are due to developmental delay and disability rather than autism.
How can ITS help someone who has a diagnosis of 22q11.2 deletion syndrome?
If you or your family member has speech, language or communication difficulties as a result of a 22q11.2 deletion syndrome or autism diagnosis, ITS can help.
We would be happy to provide you with an assessment of your needs, establish goals and carry out a mutually agreed therapy programme in order to meet these goals. Furthermore, we would be happy to advise on strategies to be employed at home, school or at work to facilitate communication.
How can I contact ITS?
Telephone: 0845 838 291. We are happy to provide a complimentary telephone consultation.
Email: info@integratedtreatments.co.uk
Further Information
The following links will allow you to find out more about the genetic disorder 22q11.2 deletion syndrome.
The International 2211q.2 Foundation http://www.22q.org/
Genetic disorder 22q could be misdiagnosed as autism http://www.medicalnewstoday.com/articles/266320.php
Victoria Taylor
08/10/2013
Written on behalf of Integrated Treatment Services.
I.T.S is a private Speech and Language Therapy service based in Leicestershire, East Midlands and Southern England. It specialises in providing highly-skilled Speech and Language Therapists, but also associates with other therapeutic professionals, including Occupational Therapists, Physiotherapists, Psychologists and Arts Psychotherapists
