Speech and Language PDF Print E-mail
There are a variety of 'oral' problems associated with a 22q11.2 deletion. Resonance, speech, language and feeding difficulties often occur.

Feeding:

The velum, or soft palate is the soft, fleshy part in the back of the roof of the mouth. Difficulty moving the muscles of the soft palate is a common problem. The velum is important because it closes off the space between the nose and the mouth during swallowing and speech. This closure prevents food and air from going into the nose. When the palate is not formed normally or does not move normally then vocalisation sounds and speech may sound hypernasal. This is referred to as velopharyngeal incompetence or VPI. In infancy (and sometimes beyond) some children may regurgitate fluid into the nose. This usually decreases as the baby grows and becomes accustomed to feeding.
 
More rarely a cleft palate or a hole in the roof of the mouth is present. When this is the case, changes in feeding techniques are helpful, such as using a cleft palate bottle or a soft cross cut teat while feeding the baby in an upright position. It is important that the cleft be closed, this is often carried out at between 9 and 12 months of age.
 
Some children may have a submucosal cleft palate which may or may not cause a problem. This is where there is a cleft or hole in the bone and muscle of the palate which is covered over by the soft tissues and skin of the palate and can be repaired by surgery. The problems caused by a submucosal cleft palate include hypernasal speech, regurgitation of feeds into the nose and/or speech problems.
 
Developmental and/or neurological problems may also impact upon the child's ability to feed. For example the child may have difficulty sucking, swallowing or moving the tongue. Some children have difficulty in moving from one food texture to another. Many children have gastro- oesophageal reflux, or regurgitation of the stomach contents back up the oesophagus (the feeding passageway which connects the mouth and the stomach) this can be uncomfortable and affect feeding. There are techniques to help these problems by a speech therapist or feeding specialist.

Language:

Language is a system of symbols used to communicate, which includes a receptive comprehension component as well as an expressive or output component. Language may be broken into several parts including the systems of phonology (sounds); syntax (grammar); semantics (meaning) and; pragmatics (appropriate use of language). In addition to speech there is non-verbal language e.g. gestures. There is non-symbolic communication (e.g. pointing and reaching) and symbolic communication (such as pointing to the mouth to indicate hunger). There are also conventionalised forms of communication such as head shaking or waving.
 
Language is critical because it is one of the key ways we think, regulate our behaviour, communicate with each other and learn at school. Language and speech are different things. Speech is the perception and reproduction of speech sounds and sound combinations. Effective speech is dependent on a child having language skills.
 
Children with DiGeorge syndrome will generally show a language delay or a delay in the emergence of language. It is important to have your child evaluated by a professional in the field of speech and language should you find this to be the case. Some children show delay because they are globally developmentally delayed and this also needs to be evaluated. Ideally the Speech and Language Therapist will be familiar with the communication characteristics associated with DiGeorge Syndrome/VCFS/22q11.2 deletion.
 
When your child is delayed in language and speech it is important to keep in mind the larger goal of communication. Showing your child that they can successfully communicate their thoughts, feelings and needs, even if it is gestured or an approximation of the desired words, can greatly reduce frustration. For further advice on communication "tools" please contact Max Appeal!
 
Some children have specific disturbances in language development, such as language disorder. This can be difficulties with word selection (word finding difficulty), with word order in sentences and with organising complex thoughts into sentences. It is important to obtain assessment prior to school entrance to determine how language is developing and what your child may need to optimise laerning.

Speech:

Speech can also be delayed or disordered in children with a 22q11.2 deletion. These errors are generally as a result of:
 
Delayed development in the usual sequence of speech development.
 
Articulatory problems related to weak muscles in the soft palate and speech muscles. Children may try to compensate for the flow of air into the nose.

Motor, or muscle or co-ordination problems sometimes termed verbal dyspraxia.

There may be a combination of factors in any particular child. A speech assessment can help determine whether your child's speech problems are significant and if they would benefit from therapy or other investigations.

Resonance and Voice:

If the soft palate does not function normally then the child will sound hypernasal from too much air in the nose. A few children have floppy cartilage in the larynx, problems with motion of the vocal cords, wet hoarseness or their voices may sound high. Sometimes a child might also sound hoarse.

Any difference in voice quality or breathing should be thoroughly assessed by an ear, nose and throat specialist and a speech therapist.

When should your child be assessed by a speech/language professional?

1. In the new-born period: to assess feeding difficulties.

2. Follow up in 6 month to 1 year intervals (depending on the child) to monitor emerging speech/language skills.

3. Prior to school entrance: to determine how language is developing and what intervention/assistance may optimise your child's learning.

4. Older children: following an initial assessment, follow up should be tailored to a child's specific needs.

Every child with a 22q11.2 deletion, DiGeorge Syndrome or VCFS should be considered a candidate for early intervention because of the high incidence of language and learning delays.

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