VCFS-Velo-cardio-facial syndrome

Question 1

What is VCFS?

Answer 1

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(* a rare anatomical variant in which the aortic arch is on the right side rather than on the left. ) to disorders necessitating open-heart surgery (cardio-), and common facial features (facial).

Question 2

They noted similarities to multiple cases in a single family first reported by Strong in 1968 who referred to “a familial syndrome of the right-sided aortic arch, mental deficiency and facial dysmorphism.” Since then, more than _____clinical features affecting multiple structures and behaviors have been described.

Answer 2

200

Question 3

Cause of VCFS?

Answer 3

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.

Question 4

What is the difference between VCFS and 22q11.2 Deletion Syndrome

Answer 4

VCFS is always caused by a deletion from 22q11.2, but not all deletions from 22q11.2 cause VCFS.

Question 5

Why do some feel the term “22q11.2 Deletion Syndrome” is misleading?

Answer 5

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.

Question 6

What are some other names for VCFS?

Answer 6

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.

Question 7

What is the difference between VCFS and DiGeorge?

Answer 7

Not everyone with VCFS has DiGeorge, and not everyone with DiGeorge has VCFS. 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). 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.

Question 8

What are the most common features of VCFS?

Answer 8

Clinical expression is variable. 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. * full list of clinical findings and their relative frequency can be found online at www.vcfscenter.org on the downloads page.

Question 9

What are the most common behavioral characteristics of VCFS?

Answer 9

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.

Question 10

Do infants with VCFS have feeding disorders and should they have feeding therapy?

Answer 10

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. * because there is a different growth velocity for VCFS

Question 11

If there is still a concern, a ______ _____ _____ is needed to rule out various conditions that might be causing reduced nutritional intake or weight gain

Answer 11

complete medical workup

Question 12

_____ & _____problems may make oral feeding difficult or unsafe for a period of time

Answer 12

cardiac and pulmonary

Question 13

Structural anomalies such as ______ _____ may cause compression of the lower airway and esophagus, leading to difficulty or even discomfort/pain when feeding resulting in an aversion to eating

Answer 13

vascular ring (malformation of the aortic arch anatomy, where vessels partly or completely encircle the trachea and esophagus)

Question 14

Slow ____emptying and constipation due to _____ 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 (vomiting) and an aversion to eating and behavior problems surrounding mealtime.

Answer 14

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 (vomiting) and an aversion to eating and behavior problems surrounding mealtime.

Question 15

Overt cleft palate or submucous cleft palate (including obvious or occult SMCP) may result in difficulty sucking or in _____ __________

Answer 15

nasal regurgitation. Nasal regurgitation, or the flow of formula out the nose during or after feeding,

Question 16

Overt cleft palate or submucous cleft palate (including obvious or occult SMCP) may result in difficulty sucking or in _____ __________

Answer 16

nasal regurgitation. Nasal regurgitation, or the flow of formula out the nose during or after feeding,

Question 17

Oral “stimulation” and oral motor therapy are not appropriate and….

Answer 17

contrary to their intention, they often contribute to oral hypersensitivity that complicates articulation therapy.

Question 18

What is voice like in children with VCFS?

Answer 18

Hoarse

Question 19

What is their voice quality issue typically caused by?

Answer 19

Laryngeal or vocal fold asymmetry, unilateral paresis and anterior webbing causes hoarseness

Question 20

What is resonance like in children with VCFS?

Answer 20

Severe hypernasality is very common

Question 21

What is cause of resonance issues?

Answer 21

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).

Question 22

What is the effect of resonance issues?

Answer 22

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.

Question 23

What is articulation like in children with VCFS?

Answer 23

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.

Question 24

Is apraxia common in VCFS?

Answer 24

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.

Question 25

Why would VPI and cleft palate be confused?

Answer 25

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 VP

Question 26

What about phonological disorders?

Answer 26

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.

Question 27

What is language development like in children with VCFS?

Answer 27

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.

Question 28

What language skill deficits may become apparent as children become older (e.g. 3rd grade+)

Answer 28

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 the 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.

Question 29

I have heard that tonsillectomy and adenoidectomy should be avoided in children with cleft palate. Why is that different in VCFS?

Answer 29

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.

Question 30

Why should every effort should be made to avoid adenoidectomy

Answer 30

Often, VCFS is diagnosed only after adenoidectomy. Therefore, in patients with VCFS and normal speech,

Question 31

Should tonsilectomy be avoiced as well?

Answer 31

No, Tonsils 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 postoperative airway obstruction and enables the surgeon to construct the flap a more superior level.

Question 32

Children with VCFS often have hypotonia, including pharyngeal hypotonia, so should oral strengthening and other oral motor exercises be done?

Answer 32

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.

Question 33

Do children with VCFS benefit from blowing exercises to “teach orality” or improve oral air pressure?

Answer 33

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.

Question 34

What are the basic principles of articulation and language therapy in VCFS?

Answer 34

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.

Question 35

Goals to address deficits in expressive language for young children should be overlaid or selected to be built around the sound-production goals. Example?

Answer 35

For example, vocabulary should be 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

Question 36

. If phonemes /d/ and /s, z/ are not in the child’s repertoire yet, should you work on regular past tense or plurals?

Answer 36

No, 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.

Question 37

Should Development of abstract language skills, such as making inferences and understanding non-literal language be treated?

Answer 37

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.

Question 38

Should articulation be in groups or individualized?

Answer 38

Articulation therapy must be individual, intensive, and direct to be effective.

Question 39

Which sounds should you start therapy with?

Answer 39

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. T

Question 40

Is intelligiblity the primary goal?

Answer 40

Accurate placement and airflow (with nasal occlusion as neede d during therapy and home practice) is the goal, not just intelligibility.

Question 41

What therapy techniques are useful?

Answer 41

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

Question 42

When can velopharyngeal flap be considered?

Answer 42

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.

Question 43

Where can I get more information about VCFS and the VCFS growth charts?

Answer 43

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.