VCFS & 22q11
Velo Cardio Facial Syndrome (VCFS) also known as 22q11 Deletion Syndrome is the most common syndrome associated with cleft palates and the second most common syndrome associated with congenital heart disease.
Velo Cardio Facial Syndrome is caused by the deletion of a small piece of chromosome 22. This small deletion of chromosome 22 is responsible for a wide array of symptoms and features that affect many parts of the body. The deletion occurs in the location designated q11.2 which is why it is often referred to as 22Q11 Deletion Syndrome. Velo Cardio Facial Syndrome is a genetic syndrome and the most common microdeletion syndrome. It is also the second most common syndrome after Downs Syndrome.
The name Velo Cardio Facial Syndrome comes from the Latin words “velum” meaning palate, “cardio” meaning heart and “facies” having to do with the face, although not all identifying features are present in children born with the syndrome.
Speech Delay and Velo Cardio Facial Syndrome
Young children with speech delay due to VCFS will usually have a good understanding of language even though they do not talk. They know what they need and want to communicate but are unable to express this effectively. This can cause much frustration for the child and can lead to a delay in their social development as well as their communication development. There are some things that you can do to lower that frustration level so that the child can still benefit from and enjoy communication.
Sign Language Therapy for Speech Delay
It is important to understand that communication is about more than just language acquisition. We communicate effectively with a combination of body language, f
acial expressions, gestures, sound effects as well as spoken and written words. When talking is difficult to learn or is delayed, then often learning to communicate is also difficult and delayed. This is often the case with children with Velo Cardio Facial Syndrome. Placing emphasis on all of the other communication methods such as gestures and body language can be of great benefit to those suffering from delayed speech development.
We use gestures all the time to communicate, especially when our children are very young. Some of the first gestures are learnt through song, with nursery rhymes such as ‘twinkle twinkle little star’ and ‘eency weency spider’ where we use our hands to mimic the stars, a spider, the rain or the sun. Later down the track we introduce even more gestures such as blowing a kiss, clapping hands and waving which are eagerly copied by the child. Sign language gestures are simply the next step in this process and can be incredibly easy to incorporate into your daily routine. This method of communication can not only help to encourage communication development but also ease some of the frustration.
Signing also has another distinct advantage for children with Velo Cardio Facial Syndrome. When sign language is combined with the spoken word, the sign can help to be a visual cue for the correct speech sound. Children with speech delay respond very well to the use of gestures as cues for speech production. Not only does the sign language provide the gesture cues for the spoken word but it also provides the start of successful communication.
Using baby sign language with your child has been shown to encourage speech development so you need not worry that your child will stop wanting to learn to talk because you are signing with them. As soon as the child’s spoken language is able to be understood they will want to stop using the signs because the spoken language is much easier and more flexible to use above all other means of communication.
Toddler Interpreter has produced a set of Sign Language resources specifically for use with hearing babies, toddlers and children. The signs are easily recognisable so that they provide the best visual cue to the meaning of the word. These gestures are universal so they will also help your child to be understood outside of their immediate family as well. These signs can be introduced from any age; some parents begin to introduce sign language as early as 4 months of age, and others don’t start until they are 2.5 years old.
Toddler Interpreter is working closely with the VCFS & 22q11 Foundation to help spread the word about Velo Cardio Facial Syndrome. Although this syndrome affects a staggering 1 : 2000 children it is still relatively unknown amongst the general population.
Other Common Names for Velo Cardio Facial Syndrome Include:
• Velocardiofacial Syndrome, VCFS or VCFS Syndrome
• Digeorge Syndrome or Di George Syndrome
• 22q11 Deletion Syndrome or 22q11
• Conotruncal Anomaly Face Syndrome
• Cayler Cardiofacial Syndrome
These original classifications are now understood to be presentations of the single syndrome all related to the microdeletion occuring in the 22q11 chromosome.
Epidemiology of Velo Cardio Facial Syndrome
Although there are many names for Velo Cardio Facial Syndrome, it is responsible for affecting up to 1 : 2000 children born each year. It is classified as a syndrome because of the pattern of symptoms occurring together.
The signs and symptoms can be wide and varied, which may include birth defects such as congenital heart disease, defects in the palate, learning disabilities, mild facial features and a weakened immunity. The associated disorders that may be present with VCFS cover almost every organ and system in the body. The far reaching range of associated disorders can have an impact on development, speech, language acquisition, learning, attention, behaviour and temperament.
Some associated features may include but are not limited to:
• Defects in the palate (most commonly velo-pharyngeal insufficiency)
• Congenital heart disease
• Learning disabilities
• Hearing disabilities
• Recurrent infections
• Kidney abnormalities
• Feeding difficulties as babies
• Mild facial features
• Growth hormone deficiency
• Skeletal abnormalities
• Autoimmune disorders including hypothyroidism
Detection and Cure of 22q11 Deletion
There is no cure for the genetic 22q11 deletion. Treatment usually involves identification of each of the associated features and management of each with the best treatment available.
Diagnostic genetic testing of the deletion of chromosome 22 is widely available for clinical and prenatal testing using a FISH assay performed on a blood sample. This test is 95% accurate at diagnosing the 22q11 deletion that occurs with VCFS upon clinical presentation of the person displaying signs and symptoms of the syndrome.
Speech and Language Profile associated with VCFS
Velo Cardio Facial Syndrome (VCFS) is associated with over 180 anomalies however 90-99% of the VCFS population will suffer from learning difficulty or disability and 69% of the VCFS children will suffer from palatal abnormalities.
Part of the speech and language profile associated with 22q11 deletion syndrome includes difficulties acquiring vocabulary and formulating spoken language. Recent studies found that VCFS children were severely limited with their vocabulary and many displayed articulation errors. The limited inventory and compensatory articulation may be linked to the structural abnormalities of the palate.
There is a unique profile of speech and language impairments associated with VCFS. Vocabulary acquisition is often severely delayed for pre-school aged children. Language delays and speech sound errors are common problems. Some children were still non-verbal at 2-3 years of age; many report that their child remains non-verbal as late as 5-6 years of age.
VCFS & 22q11 Foundation
The VCFS & 22q11 Foundation is currently raising funds to prepare a teachers handbook for distribution to schools and parents. This handbook will contain vital information to help teachers to understand the unique differences and needs of VCFS students.
Toddler Interpreter donates 20% of the sales from all their baby sign language resources to the VCFS & 22q11 Foundation to help them continue with the great work that they do.
We encourage you to help us spread the word about Velo Cardio Facial Syndrome and raise funds for the VCFS & 22q11 Foundation. Here are some ways that you can help:
1. Post a link to this page on your facebook page or wall
2. Make a donation to the VCFS & 22q11 Foundation
3. Teach your baby sign language using Toddler Interpreter resources and 20% of the purchase price will be donated to the VCFS & 22q11 Foundation
4. Publish or redistribute this article through your own website, e-mail or newsletter
Thank you for your contribution to the children and families affected by Velo Cardio Facial Syndrome.
Toddler Interpreter teach Baby Signs and they offer the best Free Baby Sign Language Chart available online and their Baby Sign Language Book is used by parents and childcare centres in the United Kingdom, USA, Canada, Australia and New Zealand to Teach Baby Sign Language. Sign Language for Babies is easy using Toddler Interpreter’s comprehensive Baby Sign Language Dictionary. Sign Language for Toddlers can help reduce frustration and Baby Sign Language has proved very beneficial for Premature Babies, children with Velo Cardio Facial Syndrome and other babies at risk of developing a speech delay.
