From the Desk of Ann Kummer
It is my pleasure to introduce this 20Q article on the subject of velo-cardio-facial syndrome (VCFS). I recall seeing some children for speech therapy in the early ‘80s who had similar facial characteristics, similar medical issues, and velopharyngeal insufficiency (VPI) with no history of cleft palate. In the late ‘80s, I read about velo-cardio-facial syndrome and knew that my previous patients had this syndrome. Today, we find that this syndrome is by far the most common syndrome that we see in our VPI Clinic. Because this syndrome is relatively common, and includes many disorders of communication, I asked Karen Golding-Kushner, PhD, CCC-SLP to do a 20Q article on this topic.
Dr. Golding-Kushner has specialized in cleft palate, velopharyngeal insufficiency (VPI), and craniofacial disorders for 40 years. Currently in private practice, she has served on, and directed, several craniofacial teams, taught undergraduate and graduate courses in speech-language pathology, and worked in the area of early Intervention in schools. She is currently a consultant for the Virtual Center for VCFS and Related Craniofacial Disorders.
Dr. Golding-Kushner has published extensively on cleft palate speech and associated syndromes. In 1980, she was co-author of the first article ever published on communication disorders in children with VCFS. Since that time, she has published three books and over two dozen articles and chapters. She has also been invited to speak nationally and internationally. Dr. Golding-Kushner is an ASHA Fellow.
In this article, Dr. Golding-Kushner will describe the characteristics of VCFS, particularly those of greatest relevance to speech-language pathologists (SLPs), including disorders of feeding, speech, and language. Best practices for intervention are also covered. This article will be of particular interest to anyone who works with children, whether it is in the schools or in a medical setting.
Now...read on, learn and enjoy!
Ann W. Kummer, PhD, CCC-SLP, FASHA
20Q: Velo-Cardio-Facial Syndrome (VCFS)
After this course, readers will be able to:
- explain the difference between the terms VCFS, 22q deletion syndrome and DiGeorge syndrome.
- list the most common feeding, speech and language problems for individuals with VCFS.
list the appropriate procedures for assessment and treatment for speech and resonance problems in VCFS.
1. What is VCFS?
Velo-cardio-facial syndrome (VCFS) is the most common genetic multiple anomaly disorder in humans. The term VCFS was first used in 1978 by Dr. Robert Shprintzen and colleagues who observed similarities among a group of 12 patients who had severe hypernasality with cleft palate or cleft-palate-like speech (velo-), learning disabilities, cardiac features ranging in severity from as mild as a right sided aortic arch to disorders necessitating open-heart surgery (cardio-), and common facial features (facial). They noted similarities to multiple cases in a single family first reported by Strong in 1968 who referred to "a familial syndrome of right-sided aortic arch, mental deficiency and facial dysmorphism.” Since then, more than 200 clinical features aﬀecting multiple structures and behaviors have been described.
2. What is the cause of VCFS?
VCFS is caused by a microdeletion of DNA from chromosome 22, a deletion of a specific band of genes within the region designated 22q11.2. It has no other cause. This deletion can be inherited as an autosomal dominant syndrome, but the majority of cases are new mutations.
3. What is the diﬀerence between VCFS and 22q11.2 Deletion Syndrome?
VCFS is always caused by a deletion from 22q11.2, but not all deletions from 22q11.2 cause VCFS. A specific segment of deleted genes within the 22q11.2 region (22q11.21) causes VCFS, so some people feel the term “22q11.2 Deletion Syndrome” is misleading. VCFS has also been known by other names, including DiGeorge syndrome, conotruncal anomalies face syndrome in Japan, Sedlačková syndrome in Eastern Europe, and Shprintzen syndrome. The term VCFS will be used in this article.
4. What is the diﬀerence between VCFS and DiGeorge?
VCFS has also been called “DiGeorge Syndrome,” but these terms are not really synonymous. Angelo DiGeorge described children with absent thymus, congenital heart disease, immune deficiency and hypocalcemia. These features are common to many syndromes, although are most common in VCFS. Because these features are etiologically heterogenous, they represent a developmental sequence, not a syndrome. DiGeorge may be caused by other deletions, such as 10p13, and is not always associated with the 22q11.2 deletion (Fernández et al 2016; Shapira et al, 1994; Monaco et al 1991). Not everyone with VCFS has DiGeorge, and not everyone with DiGeorge has VCFS.
5. What are the most common features of VCFS?
Among the high frequency features of most significance to SLPs and audiologists are feeding diﬃculty and nasal regurgitation in infancy, delayed speech and language development, VPI with severe hypernasality and severe articulation disorders, congenital heart disease, upper and lower airway obstruction in infancy, language impairment, learning disabilities, generalized anxiety disorder, and psychosis usually beginning in adolescence. Approximately 200 clinical features have been associated with VCFS in diﬀerent combinations and with varying severity, a phenomenon known as variable expression. The clinical expression of VCFS is highly variable and a full list of clinical findings and their relative frequency can be found online at www.vcfscenter.org on the downloads page.
6. What are the most common behavioral characteristics of VCFS?
A severe startle response in infancy, separation anxiety, flat aﬀect, impulsiveness, generalized anxiety disorder, and diﬃculty with pragmatic language skills occur very frequently in childhood, as does ADHD of the inattentive type. Social immaturity is extremely common. Some of the behavior patterns seen in VCFS overlap with behaviors exhibited by children on the autism spectrum, but true ASD is rare. Psychosis is seen in approximately 30-40% of cases with a wide range of psychiatric phenotypes.
7. Do infants with VCFS have feeding disorders and should they have feeding therapy?
Babies with VCFS may be referred for Early Intervention for feeding problems or failure to thrive (FTT). Before making an assumption that the infant has dysphagia, it is important to be sure the child’s weight is being tracked on the VCFS growth charts, not on the CDC growth charts for typically developing children. Low weight should not be interpreted to mean FTT because there is a diﬀerent growth velocity for VCFS. If there is still concern, a complete medical work up is needed to rule out various conditions that might be causing reduced nutritional intake or weight gain. For example, cardiac and pulmonary problems may make oral feeding diﬃcult or unsafe for a period of time. Structural anomalies such as vascular ring may cause compression of the lower airway and esophagus, leading to diﬃculty or even discomfort/pain when feeding resulting in aversion to eating. Upper airway obstruction may also contribute to feeding and sleep disorders that could aﬀect weight gain and growth. Slow gastric emptying and constipation due to hypotonia may cause the feeling of fullness resulting in discomfort if the child is forced to continue eating (or force-fed by gavage or other passive method) and could further lead to emesis and an aversion to eating and behavior problems surrounding mealtime. All of those should be ruled out prior to attempting feeding therapy or alternative methods of delivering nutrition. Overt cleft palate or submucous cleft palate (including obvious or occult SMCP) may result in diﬃculty sucking or in nasal regurgitation. Nasal regurgitation, or the flow of formula out the nose during or after feeding, is associated with VPI and cleft palate and is not “reflux,” nor is it a feeding disorder. It can usually managed with a more upright feeing position, frequent “breaks” for burping, and typically improves with age. Replacing the standard bottle nipple with a soft nipple, and slightly increasing the size of the opening combined with an upright position, can often increase intake if the diﬃculty was due to the palatal abnormality or VPI. Oral “stimulation” and oral motor therapy are not appropriate and, contrary to their intention, they often contribute to oral hypersensitivity that complicates articulation therapy.
8. What is voice like in children with VCFS?
Laryngeal or vocal fold asymmetry, unilateral paresis and anterior webbing often cause hoarseness and high pitch for age and gender. Any patient with abnormal vocal quality, pitch, or volume should have direct examination of the larynx (videostroboscopy or nasopharyngoscopy) to determine if the characteristics are due to structural variations, in which case voice therapy is not appropriate.
9. What is resonance like in children with VCFS?
Severe hypernasality is very common and can be related to both morphologic and physiologic features associated with this syndrome. These include structural anomalies of the palate (overt, submucous, or occult submucous cleft palate, and/or palatal asymmetry), structural anomalies of the pharynx (asymmetry and/or hypotonia secondary to underlying hypoplastic and abnormal musculature), platybasia, abnormally small adenoid, and physiological disorders of the palate and pharynx (asymmetric movement and hypotonia of one or both). As a result, more than 70% of children with VCFS have severe velopharyngeal insufficiency (VPI) with very poor movement of the velum and pharyngeal walls, resulting in the need for a very wide pharyngeal flap.
10. Can hypernasality be completely eliminated when so severe and complex?
Yes. The most eﬀective treatment for VPI in VCFS is a pharyngeal flap that most often must be very wide due to the absence of lateral pharyngeal wall motion. Careful surgical planning is essential and pre-operative work up should include both nasopharyngoscopy and multi-view videofluoroscopy enabling the surgeon to see any asymmetry and plan accordingly. Because of irregularities in the vasculature in the neck, the internal carotid arteries may be medialized and in the posterior pharyngeal wall. Care must be taken during the surgery to avoid them. The location and course of the carotids may be visualized using preoperatively using magnetic resonance angiography (MRA) or CT angiography. This may be more accurate than simply visualizing pulsations on the pharyngeal wall during nasoendoscopy (which might be referred from a nearby location and not actually pinpoint the location and course of the arteries) and palpating the pharyngeal wall during surgery. In addition, adenotonsillectomy at least 4 months before pharyngeal flap reduces respiratory complications and permits high elevation of the flap for better speech results with fewer complications.
11. What is articulation like in children with VCFS?
Children with VCFS are at very high risk for speech disorders. Delayed speech is common, but response to appropriate early intervention with a focus on sound production is good, and this can be used to build a core vocabulary of early functional words that are also produced accurately. The predominant speech pattern in children with VCFS is production of maladaptive compensatory articulation errors associated with cleft palate and VPI, including glottal stops and pharyngeal, laryngeal, and nasal fricatives. This is related to the severity of VPI just described. Glottal stops are sometimes mistaken for consonant omissions. However, they are, in fact, errors in place of articulation when substituted for plosives and errors in both place and manner of articulation when substituted for other sounds.
12. Is apraxia common in VCFS?
The characteristic pervasive glottal stop pattern is often erroneously diagnosed and transcribed as consonant omissions, and the disorder is often misdiagnosed as apraxia because once the sounds are produced at the laryngeal level, oral gestures are usually omitted. This makes it appear that the child is “omitting” consonants and not moving the mouth. Glottal stops, though, are actually a learned error in place of oral articulation (glottis vs. velar, alveolar, or bilabial for example) and are substitutions, not consonant omissions. This disorder of maladaptive compensatory speech errors is sometimes referred to as “cleft palate speech” and is not apraxia. Some children with VCFS may exhibit apraxic characteristics to their speech, but apraxia is not among the common features of VCFS and is never due to VPI.
13. What about phonological disorders?
A phonological disorder may occur in combination with developmental, compensatory, or obligatory errors. However, the ubiquitous production of glottal stops is a phonetic sound production error, not a phonological process of “glottal replacement.” The diﬀerence is critical because using phonological therapy approaches is not likely to be eﬀective.
14. What is language development like in children with VCFS?
Receptive language is often good but because of their severe deficits in expressive language and speech sound production, infants and toddlers with VCFS should receive aggressive early intervention services with a focus on establishing a functional and intelligible spoken vocabulary and on sound production. There are some SLPs who advocate teaching sign language as a “bridge” but this is very controversial and experts advocate investing all therapy energy/resources, parent training, and home programming on oral communication. The goal is oral speech so that should be the focus of therapy. SLPs should train parents how to model, stimulate, and reinforce vocalization and verbalization- speech and language. Of course, all toddlers, including those with VCFS, gesture to help communicate their wants and needs. This is a part of typical communication. Teaching sign diverts time and energy from that goal and conveys to the child (and caregivers) that speech is “too hard” and an alternative is needed.
Older children with VCFS often demonstrate relative strengths in reading and rote memorization. But even those with average receptive and expressive language skills in early childhood should be monitored throughout the elementary school years. This is because of the high risk for persistent concrete thinking and diﬃculty with abstraction and problem-solving skills, such as drawing inferences, figuring out meaning of new words from context, solving mathematical word problems, and impairment in executive function. These diﬃculties tend to manifest around second or third grade when the language demands for learning becomes more advanced.
15. I have heard that tonsillectomy and adenoidectomy should be avoided in children with cleft palate. Why is that diﬀerent in VCFS?
The tonsils and adenoids are separate structures and must be addressed separately. The adenoid tends to be small in VCFS, but in some cases may be large. Cases with large adenoids often have little or no hypernasality. In VCFS, adenoidectomy invariably results in severe hypernasality secondary to the palatal, pharyngeal, muscle, and cranial anomalies. Often, VCFS is diagnosed only after adenoidectomy. Therefore, in patients with VCFS and normal speech, every eﬀort should be made to avoid adenoidectomy. Tonsils, however, have no role in normal speech. They can be removed without concern for the development of hypernasality (barring surgical complications). Tonsils are often large in VCFS and displaced into the hypopharynx, interfering with feeding and, in some cases, resulting in upper airway obstruction and sleep apnea or sleep disturbance. Often, abnormal tonsil position and/or hypertrophy are not visible by oral examination, but can be seen nasopharyngoscopy. If it is determined that pharyngeal flap for VPI is indicated, tonsils and adenoids should be removed first. This reduces the risk of post-operative airway obstruction and enables the surgeon to construct the flap a more superior level.
16. Children with VCFS often have hypotonia, including pharyngeal hypotonia, so should oral strengthening and other oral motor exercises be done?
Absolutely not! There is no evidence to support the use of non-speech oral motor exercises to improve speech or VP closure under any circumstances. The neuromuscular control and neuromuscular movement patterns for the articulators and for the muscles involved in VP closure are diﬀerent for speech and non-speech tasks, and one does not influence function for the other.
17. Do children with VCFS benefit from blowing exercises to “teach orality” or improve oral air pressure?
Absolutely not! The patterns of motion for VP closure are diﬀerent for speech and non- speech tasks, including blowing. The concept of “orality” should be conveyed when working on the phoneme /h/, or when whispering which interferes with the production of glottal stops. Occluding the nares during sound production is also eﬀective in directing the air through the oral cavity in the presence of severe VPI.
18. What are the basic principles of articulation and language therapy in VCFS?
Articulation therapy must be directed at the elimination of the maladaptive errors affecting place of articulation. If a child is developing a glottal speech pattern, therapy and parent training for a home program should begin immediately, even before the 2nd birthday. The mechanics of production of the sound should be introduced with sounds in isolation or nonsense syllables. After that is mastered, sounds in words may be introduced. Therapy must be intensive and frequent, with daily home practice for short periods, such as 2 or 3 minutes, several times a day. Parent training is essential. Therapy must be organized and scaﬀolded so that the child is led from accurate production of sounds in isolation to syllables, words, phrases, sentences, and then conversation. Therapy levels should be changed only when the child has mastered the previous level. Goals to address deficits in expressive language for young children should be overlaid or selected to be built around the sound-production goals. For example, vocabulary should expanded based on the target sounds being produced so that the words are produced correctly and with good intelligibility. It makes no sense to work on increasing MLU if each word is unintelligible, plus doing so results in reinforcing inaccurate production of sounds in some contexts while working to correct those sounds in others. If phonemes /d/ and /s, z/ are not in the child’s repertoire yet, it is illogical to work on production of regular past tense verbs, or on production of plurals. If the child is producing a nasal fricative for /s/, or an /s/ on inhalation, and there is a focus on doing that sound to mark plurals, aberrant sound production will be reinforced and that much more diﬃcult to extinguish when /s/ is a target sound for articulation therapy. When more sounds are produced correctly at the sentence level, production of those sounds in sentences should then be overlaid on the language therapy. That is, during “language” tasks, articulation therapy should remain front and center so the child is expected to use correctly produced sounds during language tasks. Development of abstract language skills, such as making inferences and understanding non-literal language, must be monitored carefully because it is an area of high risk in VCFS. Goals to address these areas should be added to the treatment plan as needed, and approached with direct instruction.
Articulation therapy must be individual, intensive, and direct to be eﬀective. Children with VCFS do much better with direct teaching than discovery methods. It is critical to follow a logical sequence from production of sounds in isolation or syllables to words, phrases, sentences, etc. It is also helpful to begin therapy with nasal, no-pressure and low pressure sounds and then using those sounds as facilitating phonemes for production of high pressure consonants. The SLP should be direct in telling and showing the child how to produce the sound (articulator placement) and also about how to direct the air flow. For example, SLPs often say “Bite your lip” when teaching /f/. However, it is more accurate and useful to say “Put your teeth on top of your lip and make windy teeth, “or “Put your teeth on your lip and push the air out the middle.” Rather than putting the entire lip inside the anterior maxillary dentition, this elicits accurate placement with some vermillion on the lower lip remaining exposed, and making sure there is airflow between the anterior dentition and the lip. Labiodental placement is not suﬃcient. This one example applies for all speech sounds. Accurate placement and airflow (with nasal occlusion as needed during therapy and home practice) is the goal, not just intelligibility.
Another principle relates to choice of target words for practice. Words should contain sounds that are correctly produced plus the target sound. The entire word is then correct when produced and the inadvertent reinforcement of error sounds is avoided ensuring that the child will establish a core vocabulary of words that are accurate when produced. Because of the nature of errors and need for an intensive drill-type approach (often with nasal occlusion), articulation therapy must be individual, not in groups. The need for direct instruction and frequent repetitions to facilitate learning new skills applies to language therapy, as well. These principles apply to children with VCFS who have maladaptive compensatory articulation disorders and also to those who have phonological or developmental errors, which may also occur or co-occur.
19. What therapy techniques are useful?
For articulation therapy, it is useful to begin with production of nasal and low/no (oral) pressure sounds (nasal occlusion is not needed for those) and then to use those sounds as facilitating phonemes for production of pressure sounds. For example, production of /m/ with nasal occlusion will result in production of /b/; whispering the /b/ will result in production of /p/. Liberal use of nasal occlusion may be needed (using a nose clip during therapy or holding the nose without obstructing a view of mouth) to enable the child to build intraoral pressure when pressure sounds are introduced, especially because speech therapy will often begin prior to the time that pharyngeal flap surgery can be performed. Pharyngeal flap should not be done until the child is able to produce a speech sample while imaging of the VP valve is being done, typically about 4 years of age. Use of nasal occlusion can usually be phased out for production of voiceless plosives, although voiced sounds may “collapse” to their nasal cognates without nasal occlusion. It is important to be sure the child produces a good /h/. If not, that should be an early target sound because it helps to break the glottal pattern (it requires an open glottis) and is also a component of voiceless sounds. The best approach is direct instruction for production of sounds and airflow management while working directly on sound production beginning with the mechanics of production in syllables, then in imitation of single words, then in single-word picture naming or word reading.
20. Where can I get more information about VCFS and the VCFS growth charts?
For more information or guidance on VCFS: Contact the Virtual Center for VCFS (www.vcfscenter.com), an online open-access 501(c)3 program providing state of the art information targeted to the specific questions or concerns of professionals and families. The Virtual Center is neither a treatment nor diagnostic program and does not make referrals, it is strictly informational. Through this Center, videochats (or phone calls, kid preferred) are set up between the interested party and international experts who can address the specific questions or concerns without having to travel or incur any expenses. Growth charts for VCFS and other useful documents may be downloaded from the website. An online journal is also available at that website. There are also several VCFS diagnostic and treatment centers around the US.