Velo-Cardio-Facial Syndrome

Melissa Velazquez
Courtnie Schwartz
Gina Palluconi
Sara Gabet




Description and Prevalence (Fullman & Boyer, 2012)

What is velo-cardio-facial syndrome?
·  Velo-cardio-facial syndrome (VCFS) is a genetic disorder that results from a microdeletion (missing part) on the long arm of chromosome 22.
·  The syndrome is characterized by the presence of certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands.
· They are characterized by typical facies that include, small ears with squared upper ear, hooded eyelids, cleft-lip/palate, asymmetric crying facies, small mouth, chin, and side areas of the nose tip.

Prevalence
VCFS affects about 1 in 4,000 newborns. The deletion of chromosome 22 is estimated to occur in one in 3,000 to 4,000 live births. There is no specific reason as to why this syndrome occurs, however it has been found that it can be hereditary. There has been evidence that shows that the deletion is inherited in about 10 percent of families, thus they are at risk for passing this deletion to their children. The gene is autosomal dominant.

Features
Patients with this disease typically have similar features. However, they can vary from child to child.
Some features may include:
·         Palatal abnormalities (such as cleft lip and/or palate)- there is evidence that indicates that  cleft- lip and palate occurs in  1:2,000 live births.

• feeding difficulties resulting from the cleft lip or palate
• conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
• hearing loss or abnormal ear exams
• genitourinary anomalies (absent or malformed kidney)
• hypocalcemia (low blood calcium levels)
• microcephaly (small head)
• mental retardation (usually borderline to mild)
• IQs that range from 70 to 90 what does this mean?
• psychiatric disorders in adults (e.g., schizophrenia, bipolar disorder)
• Severe immunologic dysfunction.

How is it diagnosed?
·         VCFS can be diagnosed with a blood test called FISH (fluorescence in situ hybridization) where doctors detect the deletion of chromosomes.
·         For patients with smaller deletions, more profound tests are used, typically seen in research labs including a comparative genomic hybridization or MLPA.


Impact on language

· Disorders of speech, language and/or hearing occur in nearly all cases (Antshel, 2009).
· It is hypothesized that the gene 22q11.2 is responsible for the development of language; therefore                                              the deletion of the gene may result in the disruption of language acquisition (Antshel, 2009).
· More severe impairment in expressive language as compared to the individual’s receptive language. However, receptive language is usually delayed (Antshel, 2009).
· Not much is known about receptive language in VCFS

> Most research shows that individuals with VCFS have stronger receptive language skills than  expressive language abilities (Antshel, 2009).

> However, Glaser et. al. (2002) conducted a study which showed that expressive language was stronger than receptive language

· Hearing loss, cognitive impairments and poor speech intelligibility are all associated with VCFS; these factors are known to have adverse effects on language acquisition (Antshel, 2009).
· Conductive hearing loss in the middle ear due to chronic middle ear disease can cause language development problems by disrupting the process of language imitation (Antshel, 2009).
· Cleft palate (overt or submucous) has huge implications on speech and language acquisition not only with articulation but Velopharyngeal insufficiency as well (Antshel, 2009).
· Antshel (2009) reported that velopharyngeal insufficiency accompanies 75% of children with VCFS causing:

> Insufficient intraoral pressure

> Glottal stop substitutions

> Children may not attempt to produce more complex words because their consonants are not very intelligible resulting in telegraphic speech

Impact on literacy (Antshel et al., 2009)

• Reading decoding and spelling
• Despite delays in language and articulation, numerous research studies report reading decoding and spelling to be areas of relative strength in individuals with VCFS.
• Children with VCFS had a standard score on the Wechsler Individual Achievement Test-Second edition for reading and spelling. This is higher than expected compared to their below average IQ.
• More research is needed to determine the cognitive linguistic skills in children with VCFS that enable them to have reading decoding skills. For example, studies should focus on the phonological processing and orthographic coding skills of students with VCFS to determine if these affect reading decoding.
• Reading comprehension
• Studies report reading comprehension to be typical of or below the reported IQ of children with VCFS. Although they have typical reading decoding skills, there are deficits in reading comprehension.
• More research is needed to investigate the strength of the different components of reading comprehension in students with VCFS. For example, cognitive abilities including working memory, vocabulary, and syntax are all necessary for reading comprehension.
• Hyperlexia
• Although there is still no research in this area, it is thought that some students with VCFS may exhibit hyperlexia. Students with hyperlexia demonstrate intact reading decoding despite deficits in aural and reading comprehension.
• Hyperlexia has a significant occurrence in developmentally disabled populations such as people with autism spectrum disorder. Further research must investigate whether children with VCFS and comorbid autism spectrum disorder are more likely to demonstrate hyperlexia.

Websites and multimedia example

1. The International 22q11.2 Foundation, Inc
http://www.22q.org/

This website was designed to provide information to families, educators, clinicians, physicians, etc. about those who have been diagnosed with a 22q11.2 deletion. It provides an overview of the characteristics of VCF syndrome, and links to medical, educational, psychosocial, and other resources for different age groups living with the disorder.  It also provides information about upcoming conferences, press releases, and research on VCFS.

2. Velo-Cardio-Facial Syndrome Educational Foundation, Inc.
http://www.vcfsef.org/

This website was designed to provide information and support to those with VCFS and their caregivers on an international scale.  The website provides current press about the disorder, links to support groups in the U.S. and other countries worldwide, and links to other associations related to craniofacial anomalies.  The website can be viewed in six languages, with a contact link to help translate the content into other languages as well.

Multimedia Example:

Parts 1-3 of one person’s story about living with VCF syndrome.
http://www.youtube.com/watch?v=dGJOMT8VR9A
http://www.youtube.com/watch?v=dxuNLj0jy2Y&feature=relmfu
http://www.youtube.com/watch?v=j0DiZqpyla4&feature=relmfu

References

Antshel, K.M., Marrinan, E., Kates, W.R., Fremont, W., & Shprintzen, R.J. (2009). Language and literacy development in individuals with velo-cardio-facial syndrome. Topics in Language Disorders, 29, 170-186.

Fullman, L.I., & Boyer, V.E. (2012).  Velocardiofacial syndrome and early intervention.  Contemporary Issues in Communication Science and Disorders, 39, 21-29.

Glaser, B., Mumme, D.L., Blasley, C., Morris, M.A., Dahoun, S.P., Antonarakis, S.E., Reis, A.L., Eliez, S. (2002). Language skills in children with velo-cardio-facial syndrome. The Journal of Pediatrics, 140 (6) 753-758.