English Newsletter - Velo-Cardio-Facial Syndrome Educational ...

Page 3vcfsef January 2011 newsletterstill call them “girls.” We know that boys all have one X andone Y shaped chromosome, but we still call them “boys.”We could also write these as equations:XY = boyXX = girlCan you imagine a teacher getting the attention of her classby saying, “Good morning XXes and XYs!” Absurd!In the same way, we can write the following:Velo-cardio-facial syndrome = 22q11.2 deletionThe terms “Down syndrome” and “Trisomy 21” are used interchangeablyand nobody struggles with that fact. Childrenare rarely referred to by their genetic gender identities, theyare called “boys” and “girls.” So, why is everyone so preoccupiedwith the fact that VCFS is caused by the 22q11.2deletion, but is still called VCFS? If there is a deletion in acritical region of Chromosome 22, the resulting disorder isVCFS. If a person has VCFS, they have a deletion in that criticalregion.What about “Shprintzen syndrome?” Bob Shprintzen has alwayscalled the syndrome by what he named it – Velocardiofacialsyndrome. He has outright rejected any attempt tocall it by his name. However, some people call it that becauseof the fact he described it. That is how Down syndrome,Williams syndrome, Turner syndrome, Marfansyndrome, Tourette syndrome, and a myriad of other syndromesand medical conditions (including DiGeorge) gottheir names. DiGeorge was not the one who called the conditionDGS. However, the medical community named it thatafter he published a landmark article describing the conditionthat has come to bear his name. If you would ask myvote, I would certainly want to pay tribute to Bob by callingit Shprintzen Syndrome. However, as his friend, I know thatembarrasses him, and have agreed to VCFS from the beginning,from before we even knew that is was caused by the22q11.2 deletion. Others may not agree – they want to givecredit where credit is due, so they may persist in their use ofthe name “Shprintzen syndrome.” Disloyal to our esteemedFounder as it may seem, that is not something the VCFS EducationalFoundation encourages or supports.Nobody should be calling this DiGeorge syndrome. This isfor at least two reasons. First, DG is a sequence not a syndrome.The difference is beyond the scope of this column,but the second reason is more important. That is, DiGeorgeis not the same as VCFS because DiGeorge may be causedby several different deletions, not only the 22q11.2 deletion.The math statement for this is:DiGeorge is sometimes = VCFSDiGeorge is sometimes= 22q11.2 deletionIn people in whom DGS is caused by 22q11.2, then the diagnosisis DG sequence as part of the VCFS. However, noteveryone with VCFS/22q has the disorders that are part ofthe DiGeorge sequence and not everyone with DGS has the22q deletion. However those people who have DGS and dohave the 22q11.2 deletion do have VCFS. People with DGSwho have some other deletion do not have VCFS. Just as noteveryone with VCFS has a cleft palate, not everyone withVCFS has DGS. It’s one of the things that may or may notoccur with VCFS.What we are left with is, basically, two widely-used names:VCFS and 22q11.2 deletion syndrome. For now, I can prettymuch guarantee that there will not be a name change withVCFS any more than there will be one for the Down syndromegroups or for “girls” or “boys.”What we need is for everyone to put their awareness effortsto making sure people know about the syndrome, and notfuss about the name. Everyone needs to know that DiGeorgeis a sequence, not a "syndrome," and that it involves a constellationof some of the 180 features that may or may notoccur with the 22q11.2 deletion. They need to know thateveryone with a deletion in the critical region of 22q11.2has VCFS, and if you do not have the deletion in the criticalregion you do not have VCFS (unless there was a lab error,which is rare but could happen).As we just saw, we could refer to people as "male" and "female"or we could refer to them as "XY" and "XX," their geneticidentity. I am guessing you would identify yourself asa female and not as "XX," right? Same idea here. We aregoing to continue to use the term “Velo-cardio-facial syndrome.”We hear so many people bemoaning the use of differentterms for the same disorder. Ladies and gentlemen (orshould I say, XXes and XYs), let’s put our energy where it belongs– increasing awareness of the syndrome known bothas the 22q11.2 deletion and as Velocardiofacial syndrome.Stop insisting that the medical community choose betweenthe syndrome name and the genetic name. Let’s be sure weare raising awareness of the right issues!With warm regards to each of you,Karen

Page 4vcfsef January 2011 newsletterAssessing the coMMunicAtion skills of the chilD Withvcfs:overlAP AMong etiologicAl cAtegoriesDennis M. RuscelloDepartment of Speech Pathology and AudiologyWest Virginia UniversityMorgantown, WVIntroductionThe purpose of a communication assessment is to identify the characteristics of the disorder, so that an appropriate diagnosis may bemade. The systematic process of elimination is known as differential diagnosis and is a function of the practitioner’s knowledge baseand clinical skills. In some cases the diagnosis is very simple, but in others, it can be very difficult as is sometimes the case withchildren who present with Velocardiofacial syndrome (VCFS) (Greenberg & Fifer, 2000). The overlap among diagnostic categories canmake identification a formidable task for practitioners, particularly those who are not familiar with the constellation of speech, languageand other related problems (Shprintzen, 2000). For purposes of discussion, I will talk about this clinical conundrum from theperspective of a primary speech sound disorder and use the etiological categories of mislearning (functional speech sound disorder),sensory deficit (hearing loss), velopharyngeal dysfunction (VPD) which is often a primary speech characteristic in individuals withVCFS, and motor speech disorder. A list of developmental and communication variables that are germane to this discussion are foundin Table 1. It is assumed that a communication assessment would examine these features and others, when conducting an evaluation.Diagnostic ProcessHistoryThe diagnostic process first starts with the collection of history information. Typically, there is preliminary information regarding theclient’s communication development, overall development, medical history and the impact of the communication disorder on thechild’s caregivers. It is often tempting to make an initial diagnosis as most of us have, but all of the pertinent information has not beenobtained. Moreover, our diagnostic suspicions are sometimes negated or modified after we have evaluated the child. The historyinformation is generally reviewed during the assessment along with additional information obtained via interview. Siegel-Sadewitzand Shprintzen (1982) point out that it is extremely important for the practitioner to be cognizant of the range of problems that maymanifest with a particular syndrome. Table 2 shows some general findings that may be identified when we consider case historyinformation. For example, a positive medical history may or may not be associated with a speech sound disorder attributed tomislearning, but it is generally present in the histories of clients with sensory, VCFS or motor speech involvement. Factors such assignificantly delayed speech and language development, family history of communication and/or academic learning problems, heartdefects, low muscle tone, early feeding problems including nasal reflux (also called nasal regurgitation), gastroesophageal reflux, andapnea are some of the problems associated with VCFS and would typically be part of the client history.Sound System EvaluationNext, the child’s sound system is typically assessed by a standardized test and some type of spontaneous speech sample. It is likelythat a young child will manifest a limited consonant/vowel inventory regardless of the etiological category. Error types and prosodicdifferences, provide important information in differential diagnosis; however, the practitioner must keep in mind that there is alsooverlap among the categories. The child with a functional disorder will show developmental errors that are categorized as simplification,assimilation, and feature contrast errors. Within these error types, omissions or simplifications and substitutions predominate.Substitution errors may be triggered due to specific sounds appearing in a word (assimilation) or represent a place or manner error(feature contrast). For example, a child saying /kick/ for /tick/ may show a substitution that is assimilatory; the final /k/ in the wordinfluences the change of the beginning /t/. A child who uses /t/ in place of /s/ in all words is producing a feature contrast substitution.There is a change in the manner of the sound (the way that it is made – a stop instead of a continuant or sibilant sound) but it is madein the same place of the mouth. Hearing loss has a negative effect on speech sound production that varies according to the type anddegree of loss. Substitution, deletion and distortion errors are found along with prosodic differences (See Table 2). Prosody is therhythm, flow and timing of speech that we use to stress certain words or phrases, add emphasis or show emotion in our speech.Continued on page 5

Page 5vcfsef January 2011 newsletterASSESSING THE COMMUNICATION SKILLS OF THE CHILD WITH VCFS:OVERLAP AMONG ETIOLOGICAL CATEGORIES(Continued from page 4)Errors found in the speech of children with VCFS may consist of developmental, compensatory and obligatory errors. The latter twoare most often related to problems with the velopharyngeal mechanism. Practitioners are familiar with developmental errors but someare not familiar with compensatory or obligatory errors (Ruscello, 2008). Compensatory errors are typically errors in the place ofarticulation that are thought to be strategies developed by a speaker in response to a structural deficit affecting velopharyngeal closure.There is a problem with the soft palate closing the oral cavity from the nasal cavity, hence the speaker develops compensations to tryto overcome the problem. For example, the glottal stop is a compensatory error that is frequently used by some speakers withvelopharyngeal impairment and is made by bringing the vocal cords together and quickly releasing them. Obligatory errors are afunction of an anatomical defect and usually self-correct when the physical problem is corrected. Nasal emission is an example of anobligatory error.To further complicate the diagnostic picture, it is important to rule out any developmental motor speech disorder. These motor speechdisorders include childhood apraxia of speech (CAS), a motor planning problem, and developmental dysarthria, a motor executionproblem. For the speech-language pathologist, who is less experienced in palate-related speech problems, both compensatory errorsand even obligatory errors can be misdiagnosed as being due to CAS and not recognized as related to VPD in the child with VCFS.The major features of CAS are both consonant and vowel misarticulations. The variability in the production of those speech soundsincrease in the transitions between sounds and syllables and prosodic differences. The inconsistency of production in CAS is qualitativelydifferent from inconsistency produced by children with developmental errors who are in the process of acquiring correct productionand by children who are in speech therapy but have not fully mastered correct production. The major articulatory characteristics ofdevelopmental dysarthria include consonant imprecision that manifests in distortion errors and prosodic differences, and often soundsweak and slurred. There can also be impairment in other components of the biocommunication system such as respiration, phonation,and resonation.Often times, the young child with VCFS presents with a severe speech sound disorder that includes a limited sound inventory and thepresence compensatory errors, particularly glottal stops (Baylis, Munson, & Moller, 2008). In addition, some investigators such asKummer, Lee, Stutz, Maroney, and Brandt (2007) have reported CAS features (articulatory variability, prosodic differences) and othershave listed features of dysarthria. (Carneol, Marks, & Weik, 1999; D’Antonio, Scherer, Miller, Kalbfleisch, & Bartley, 2001). It is clearthat overlap of characteristics exists among etiological categories, which presents a challenge for the practitioner.The sensory modality of hearing is very important and persons with significant conductive or sensorineural hearing loss exhibit majorspeech sound disorders. Fluctuating conductive loss may be present in the histories of children across the other three categories.While the effect of conductive loss has not been clearly delineated, it is to be noted that children with VCFS have frequent episodes ofotitis media (D’Antonio et al., 2001), and they also have a higher incidence of sensorineural hearing loss and acoustic reflex dysfunctionthan previously recognizied (Zarchi et al., in press) . Therefore, the practitioner must be aware of this potential problem and seek theassistance of the audiologist and otolaryngologist in diagnosis and treatment planning.Coexisting Speech DisordersSome children exhibit coexisting speech disorders that may be overlooked or misdiagnosed (St. Louis, Ruscello, & Lundeen, 1992).Table 2 shows that disorders of resonance, phonation, and, to a lesser degree, respiration may coexist. Children with hearing loss andmotor speech disorders may show involvement across all areas of biocommunication depending upon the systems involved and theseverity of the overall speech disorder. Children with VCFS demonstrate hypernasality that is a function of velopharyngeal impairment(VPI), and they may also have a voice disorder that manifests perceptually in hoarseness or high pitch.Language DisordersFinally, language disorders are present quite frequently across each of the groups. Impairment in form (language structure), content(semantics), and use (pragmatics) will generally vary as a function of the severity of the disorder. For instance, severe/profound hearingloss has a devastating effect on language development. Children with VCFS frequently present with language impairment such aspragmatic-based interactional disorders. In addition, learning disabilities are also seen frequently in the progression of the syndrome.Continued on page 6

Page 6vcfsef January 2011 newsletterASSESSING THE COMMUNICATION SKILLS OF THE CHILD WITH VCFS:OVERLAP AMONG ETIOLOGICAL CATEGORIES(Continued from page 5)summaryThis discussion probably generated more questions than answers, but I hope that it illustrates the overlap among the etiological categories.Our profession requires the application of knowledge and skills to the clinical situation. The initial observations of Shprintzen and hisassociates (1978) led to the identification and study of children with VCFS. It was not the work of trained technicians but astute clinicians.Since that time, there are over 180 features of the disorder that have been identified through empirical study. A practitioner mustutilize her/his knowledge and skills to identify members of this population, since there is such overlap among diagnostic categories.As we know, the correct diagnosis leads to the development of a prognosis and the most effective treatment for a client. This isparticularly important for children with VCFS, since their complex of problems emerge across development, and communicationimpairment is a major element of those problems.RefeRencesBaylis, A. L., Munson, B., & Moller, K. T. (2008). Factors affecting articulation skills in children with velocardiofacial syndrome andchildren with cleft palate or velopharyngeal dysfunction. Cleft Palate-Craniofacial Journal, 45, 193-207.Carneol, S. O., Marks, S. M., & Weik, L. (1999). The speech-language pathologist: Key role in the diagnosis of velocardiofacialsyndrome. American Journal of Speech-Language Pathology, 8, 23-32.D’Antonio, L. L., Scherer, N. J., Miller, L. L., Kalbfleisch, J. H., & Bartley, J. A. (2001). Analysis of speech characteristics in childrenwith velocardiofacial syndrome (VCFSS) and children with phenotypic overlap without VCFSS. Cleft Palate-Craniofacial Journal,39, 455-467.Greenberg, I. S. & Fifer, R. C. (2000). Evidence that the association between Hypernasality and 22q11 deletion syndrome still goesundetected: Acase study. American Journal of Speech-Language Pathology, 9, 197-201.Kummer, A. W., Lee, L., Stutz, L. S., Maroney, A., Brandt, J. W. (2007). The prevalence of apraxia characteristics in patients withvelocardiofacial syndrome as compared with other cleft populations. Cleft Palate-Craniofacial Journal, 44, 175-181.Ruscello, D. R. (2008). Treating Articulation and Phonological Disorders in Children. St. Louis: Mosby Elsevier.Shprintzen, R. J., Goldberg, L. D. , Lewin, M. L., Sidoti, E. J., Berkman, M. D., Argamaso, R. V., & Young, D. (1978). A new syndromeinvolving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft PalateJournal, 15, 56-62.Shprintzen, R. J. (2000). Syndrome identification for speech-language pathology. San Diego: Singular Publishing.Siegel-Sadewitz, V. & Shprintzen, R. J. (1982). The relationship of communication disorders to syndrome identification. Journal ofSpeech and Hearing Disorders, 47, 338-354.St. Louis, K. O., Ruscello, D. M., and Lundeen, C. (1992). Coexistence of Speech and Language Disorders. Rockville, MD: ASHAMonographs, No. 27.Zarchi, O., Attias, J., Raveh, E., Frisch, A., Basel-Vanagaite, L., Saprota, L., & Gothelf, D. (in press). A comparative study of hearingloss in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams(7q11.23 deletion) syndromes. Journal ofPediatrics (www.jpeds.com).Continued on page 7

Page 7vcfsef January 2011 newsletterASSESSING THE COMMUNICATION SKILLS OF THE CHILD WITH VCFS:OVERLAP AMONG ETIOLOGICAL CATEGORIES(Continued from page 6)Diagnostic HistoryCommunication developmentMedical historyCognitive, motor, and social developmentSpeech Sound VariablesSensory VariableCoexisting Speech DisordersCoexisting Language DisordersPhonetic/phonemic inventories Error types Suprasegmental featuresHearingResonance Phonation RespirationLanguage form Content UseTable 1. A listing of diagnostic features used for assessment of a communication disorder.CategoriesMislearning Sensory VCFS MotorHistoryCommunication history + + + +Developmental history +/- + + +Medical history +/- + + +Speech sound featuresLimited consonant/vowel inventory + + + +Different error types - - + -Suprasegmental variation - + +/- +Sensory featureHearing +/- + +/- +/-Coexisting Speech DisordersResonance - +/- + +/-Phonation +/- +/- +/- +/-Respiration - +/- - +/-Coexisting Language DisordersForm/Content/Use +/- + +/- +/-+ = present feature - = absent feature +/- = may or may not be presentTable 2. Etiological categories and associated diagnostic features.

Page 8vcfsef January 2011 newslettersleeP DisorDereD BreAthing invcfsStephen F. Conley, MD, FAAP, FACS, Pediatric otolaryngologist, Children's Hospital of Wisconsin; professor,Otolaryngology and Communication Sciences, Medical College of Wisconsin.Sleep disordered breathing can occur in Velocardiofacial syndrome(VCFS) due to both structural and functional abnormalities.Symptoms of sleep disordered breathing include heroic snoring,frequent nocturnal awakening, observed apneic pauses withbreathing efforts, morning fatigue, daytime sleepiness, behaviorchanges, and reduced school performance. Sleep apnea causedby obstruction or reduced breathing drive are best identifiedusing observed sleep studies (polysomnography).Infants with VCFS commonly have upper airway obstruction frommultiple possible causes that can act in concert to worsen symptoms.These conditions can exist in isolation or in combination andinclude: low muscle tone of the throat (pharynx); posteriorlyoriented jaw (retrognathia); congenital voice box muscle incoordination(laryngomalacia); enlarged laryngeal structures (hypertrophicarytenoids); congenital tissue obstruction of the voice boxairway (laryngeal web); reduction of windpipe diameter byoutside compression (vascular rings, anomalous subclavianartery). Frequently, more than one problem is found and eachwill need to be corrected to improve the infant’s airwayobstruction. Fortunately, severe airway obstruction requiring atracheotomy is rare, Flexible airway endoscopy is key to diagnosethe site or sites of airway obstruction.Among older children with VCFS, sleep disordered breathing canoccur due to large tonsils (tonsil hypertrophy). The adenoid padrarely contributes to upper airway obstruction because it is usuallysmall in VCFS. The flattened skull base common in VCFS causesthe throat (pharynx) to have a larger than normal volume allowingthe tonsils to fall backwards. Thus, quite large tonsils would bemissed on a routine oral exam as a source of upper airwayobstruction. Flexible upper airway endoscopy can detect this typeof tonsillar hypertrophy. Persistence of low muscle tone (hypotonia)of the pharynx and/or tongue can contribute to sleep disorderedbreathing. The more posterior orientation of the jaw (retrognathia)persists as children with VCFS grow up and can orient the back ofthe tongue against the posterior pharyngeal wall contributing tosleep disordered breathing. Polysomnography in coordinationwith flexible upper airway endoscopy under sedation (to simulatesleep) in a monitored setting are both extremely helpful in identifyingobstructive sleep apnea and the site or sites of obstruction.Dr. Conley is the medical director of the VelocardiofacialSyndrome Clinic at Children’s Hospital of Wisconsin.Post script: VCFSEF welcomes contributions from all professionals aswell as from family members of - and people with VCFS. However, itdoes not endorse or promote any particular specialist(s) or institution(s)Editor’s Note:The potential for psychiatric disorders, ADHD and learning problems is high in the VCFS population. While these are consideredprimary characteristics of the syndrome, it is important to be aware of other variables that contribute to the behavioral, socialemotional and learning profile of children with VCFS.the effect of sleeP on leArning AnD BehAviorBy: Kenneth Grizzle, PhD, Assistant Professor, Medical College of WisconsinMember, Children's Specialty GroupAlthough there is limited research into the behavioral and learning difficulties associated with sleep problems among childrenwith VCFS, much has been written about the association between various psychiatric disorders and sleep problems in thepopulation at large. By some estimates, greater than 50% of children with Attention Deficit Hyperactivity Disorder(ADHD), one of the most common psychiatric conditions associated with VCFS, have sleep problems. Difficulties withsleep among these kids can have both a behavioral and physiologic base. Emotional disorders such as depression and anxietyare also frequently accompanied by poor sleep. Children with both conditions may find it difficult to fall asleep. It is typical formost kids as they are winding down at night and being “tucked in” by mom or dad, to talk about their day, includingcomplaining about friend and teacher problems. Many children also have unrealistic fears that may make it difficult to fallasleep. However, these daily and nightly concerns tend to be time-limited and kids are able to wind down and get to sleepin a reasonable period of time. Worrying and obsessing found among some children with anxiety disorders tend to be moreprotracted and intense. These children may not only have difficulties falling asleep, but they are more likely to wake up atsome point in the night and find it difficult to return to sleep. Insomnia is also common among children and adolescentsContinued on page 9

Page 9vcfsef January 2011 newsletterTHE EFFECT OF SLEEP ON LEARNING AND BEHAVIOR(Continued from page 10)with depression, as are complaints about feeling tired during the day. Although the evidence is not clear at this point, there maybe a bidirectional relationship between anxiety and depression and sleepiness: mood and anxiousness negatively affects sleepand poor sleep in turn worsens the psychiatric symptoms.In the absence of diagnosed psychiatric conditions, sleep problems are also associated with a number of behavioral and learningchallenges. Any parent of a child or adolescent who has had a sleep over does not need to be told of the problems associatedwith disrupted or limited sleep. Emotional, crabby, easily frustrated, and several other choice words are used by parents to describetheir children the day after a sleep over. It should not be surprising to find that sleepy children tend to be more impulsive andengage in behavior that is considered risky and therefore potentially dangerous. Paradoxically, especially in pre-adolescentchildren, increased activity can be the result of poor sleep. Parents frequently describe their over-tired children as talkingincessantly, jumping from one thing to another, and struggling to settle. Impaired attentional capacity is commonly foundamong children with disrupted sleep. Research of children with sleep disrupted breathing and restless leg syndrome consistentlyfind a relationship between these conditions and attention problems. Research into the cognitive effects of sleepiness hasproduced variable results. Sleep disorders and sleepiness in children have been associated with impaired memory, more sophisticatedthinking, reasoning and problem solving skills and general school performance. Although the evidence is not clear at thispoint, it may be the emotional /behavioral lability and limited attentional capacity caused by poor sleep that has the greatestimpact on school performance. Regardless of the exact connection, behavioral science is catching up with what parents andeducators have known for quite some time, kids who are sleepy during the day, for whatever reason, are more likely to showbehavioral, emotional and learning difficulties that makes optimal performance in the classroom a challenge.Dr. Grizzle is the child psychologist for the Velocardiofacial Syndrome Clinic at Children’s Hospital of Wisconsin.sleeP hygiene: neW hABits for the neWyeAr(Editor’s note: The following suggestions were shared by Julie Cooper, RN and former president of the VCFSEF. She got them from Dr. Phillip Appel,director of the Behavioral Health Services at the National Rehabilitation Hospital in Washington, D.C. who gave us permission to summarize hisrecommendations. Dr. Appel has been helpful in working with Julie’s daughter, Katie. As we make our New Year’s resolutions for 2011, perhaps weshould keep these tips in mind as we maneuver through our busy family lives.)1. Keep a regular schedule. Wake up the same time each day,even on weekends. Establish regular times for meals,medications, chores, and other activities to keep your innerclock running smoothly.2. Avoid naps during the daytime. If you do, try to do so at thesame time everyday for no more than an hour. Mid afternoon,(no later than 3 PM) is the best for most people.3. Do not spend excessive time in bed. Use your bed for sleep,intimacy, or times of illness.4. Go to bed when you feel drowsy or sleepy. Allow yourselfone hour to “unwind” before going to bed.5. Establish a relaxing pre-sleep ritual such as taking a warmbath, light bedtime snack or reading for 10 minutes.6. Avoid heavy meals before bedtime.7. Try to exercise regularly. Vigorous exercise should be limited toearlier in the day, at least 6 hours before bedtime. Mild exerciseshould be done no more less than 4 hours before bedtime.8. Avoid consumption of caffeine, 6 hours before bedtime.“Reasonable” consumption of caffeine is considered1-2 cups of coffee a day.9. Don’t drink alcohol when sleepy. It can cause sleepdisruption in the first few hours.10. Avoid nicotine at bedtime or during the night.11. Try not to anticipate poor sleep. Trust your body… you willsleep. Some people find it helpful to keep a diary and writedown all that needs to be done the next day before going tobed. It allows them to leave their thoughts on paper ratherthan on their minds before falling asleep.12. If you can’t fall asleep in the first 20 minutes, don’t stay inbed. Get up and do something that is non-stimulating.13. Your bedroom environment and comfort are very important.Get a good mattress, keep the room at a comfortable temperature,dark and quiet. Some people prefer earplugs, music orcalm background noise. Avoid T.V.14. As soon as possible after wakening, be in a bright light.Natural sunlight is best. It helps your internal clock.

Page 10vcfsef January 2011 newsletterreseArch rounD-uPA Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial and Williams (7q11.23 deletion) SyndromesOmer Zarchi, MA, Josef Attias, DSc, Eyal Raveh, MD, Amos Frisch, PhD, Lina Basel-Vanagaite, MD, Liron Saporta, MA,Doron Gothelf, MDFrom the Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center,Tel Hashomer, IsraelAbstractAudiological functioning has been assessed in 62 individuals with VCFS, 44 individuals with Williams syndrome (WS), 23 individualswith idiopathic developmental disability (DD) and in 23 typically developing (TD) controls. Hearing was found to be significantlymore impaired in the VCFS and WS groups than in the DD and TD groups. The common audiological abnormalities identified in boththe VCFS and WS groups included high tone hearing loss, predominantly sensorineural or mixed type, loss of acoustic reflex, andmiddle ear pathologies. In both the VCFS and WS groups, hearing loss severity positively correlated with age. In VCFS, hearing losswas more severe in the subgroup carrying the COMTVal allele compared to the subgroup carrying the COMT Met allele. Our findingssuggest that hearing impairments, including sensorineural HL and acoustic reflex dysfunction, are very common in VCFS and WS.Hearing loss in VCFS is less severe in subjects with the COMT Met allele possibly due to the protective effect of dopamine on thehearing system.Zarchi O, Attias J, Raveh E, Frisch A, Basel-Vanagaite L, Saporta, L, Gothelf, D (in press). A Comparative Study of Hearing Loss in Two MicrodeletionSyndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes, Journal of Pediatrics (www.jpeds.com).RESEARCH STUDY OF A COMPUTERIZED COGNITIVE TRAINING PROGRAMFOR ADOLESCENTS WITH VCFSDr. Wendy R. KatesSUNY Upstate Medical University, Department of PsychiatryWe are conducting a study of the usefulness of a computer-based cognitive training program for adolescents with VCFS,and we would like to invite your child to participate. We are studying adolescents between the ages of 12 and 16. If youare interested, your child's participation in this study will contribute to our knowledge of the usefulness of computer-basedprograms designed to improve memory and attention skills in VCFS.You will be asked to bring your child to Syracuse for 4 assessments, each about nine months apart, over two years. Eachassessment will take about a half a day. Participants outside the Central New York area will be partially reimbursed for travelexpenses. At the second assessment, your child will receive a laptop computer to take home in order to participate in thecomputer-based training program designed to improve memory and learning. We will ask your child to participate in threetraining sessions per week for six to nine months. Each session will take about 45 minutes. A cognitive coach at our centerwill work with your child, via videoconferencing software (e.g. Skype), as he or she participates in each computer-basedtraining session. All training sessions will be scheduled at the convenience of you and your child. They can take place afterschool, in the early evening or on the weekend.Each child who participates in the study will receive a check for $10 for each session of training completed.If you are interested in participating, please contact:Jo-Anna BottiResearch Coordinator Department of PsychiatrySUNY Upstate Medical University750 East Adams Street, Syracuse, New York 13210Phone: 315-464-3268bottij@upstate.edu

Page 11vcfsef January 2011 newsletterregionAl uPDAtesStephen Eliez, M.D.Co-Regional Director,Europe VCFSEFBronwyn Glaser, Ph.D.Co-Regional Director,Europe VCFSEFEuropeBronwyn Glaser, Ph.Dand Stephan Eliez,M.D., regional directorsWinter greetings fromsnow-covered Europe!Stephan and I sendholiday greetings tothe rest of the VCFSworld. Knowing thatothers are working onthe research andclinical questions thatare nearest and dearestto our hearts gives ussomething to beespecially thankful forduring this time ofyear. We are alsothankful for end of theyear reports fromFrance and Ireland.Frédérique De Clercq from Génération22is realistic in her Parisian update: “The lifeof an association for a relatively rare syndromeis difficult. One must always keep itafloat; keep families motivated, with theone objective of learning more about thesyndrome and best adapting the medicaltreatments that are available. This is whywe continue to work on encouraging doctorsfrom the bigger hospitals to see families incomfortable, outside environments tofoster the exchange of ideas and a focuson the critical questions. In France, we aremoving forward, but there are still manyobstacles, especially regarding psychiatrictreatments. We are forced to fight hard andwork to diffuse the latest research findings.On December 4th and 5th, we participatedin “The Walk for Rare Diseases”, organizedas a televised fundraising event. Wewalked in Paris with our signs, which werevisible on national TV. Génération22 ispart of a new consortium called “mentalhandicaps”, which includes the biggestassociations that share the goal of improvingmedical and academic interventions fordisabled children. We also continue towork on a national survey about care forchildren and adolescents with mentalhandicaps to understand more about thecurrent situation in France.Some of our adolescent members are writingand producing a short film. Its subject isnothing to do with the syndrome, but itwill show that they can develop a script.They get together on the weekends, andwe are all anxious to see what they puttogether!We are working very hard on Symbiosium2010. Génération22 turns 15 in 2012and we are planning a big party bringingtogether families and practitioners inBrittany! We are going to share experiences,listen to talks, and spend time together; aswell as laugh, cry, eat, dance, drink andlive! All together! That’s the reason we arecalling it Symbiosium, from the rootsymbiosis. We see ourselves as a cozyassociation from two different worlds,each world benefitting from Génération22,despite certain advantages andinconveniences! Not bad, eh? We hope tohave many participants!”Anne Lawlor writes that this is a very busytime for the Irish association. Their FamilyChristmas Day was Saturday, December4th and they are hard at work on otherupcoming events. “Ireland’s response tothe call for national strategies and plansfor rare diseases/disorders can be seen onthe Europlan website (http://www.europlan.ie/).”Both Anne and Professor KieranMurphy will be speaking at the conference,whose title is: Journey Through Diagnosis,Information and Empowerment: TheExperience of 22q.“Another wonderful opportunity to raiseawareness is a mini-conference we arehosting in conjunction with Kieran Murphyand his research team where findings willbe disseminated and discussed with ourparents. That will take place on Saturday,January 2011. Details of the research studycan be found athttp://www.beaumont.ie/index.jsp?p=103&n=142&a=369. Other than that we arecurrently updating and re-vamping ourwebsite and Facebook page, whichcontinue to connect us with people inmany different ways.Dianne AltunaUS/Canada RegionalDirectorUS/CanadaBy Dianne Altuna,Regional DirectorNew and existingfamily support groupshave been busy thesepast few months,spreading the wordabout Velocardiofacialsyndrome to thegeneral public andraising funds to support their efforts.Anne Stalker and her group Mission 22qin Lincoln Nebraska held a fundraiser inSeptember. The picture perfect day anddelectable wine tasting helped the groupraise funds for their new 501(c)(3) organization.Congratulations to all involvedwith Mission 22q. Please click on the linksbelow provided by the Journal Star newspaperin Lincoln Nebraska to learn moreabout what Anne and her group accomplishedtheir goals.Continued on page 12

Page 12vcfsef January 2011 newsletterREGIONAL UPDATES(Continued from page 11)http://journalstar.com/news/local/article_3-b1e31d0-f7f9-11de-8027-001cc4c03286.htmlhttp://journalstar.com/news/local/article_d6f4d982-19ce-11df-9615-001cc4c03286.htmlhttp://journalstar.com/lifestyles/communit-y-matters/article_68fcd066-babd-11df-86a2-001cc4c002e0.htmlnew day, and if my Bella can fight herbattles, then so can I, as I see it. I wouldlike to expand the knowledge of thisdisorder, not just in the medical community,but also in the schools and in theprofessional world so that parents andchildren can get the support that they bothneed and deserve.”Thank you Beth for sharing your storyabout Bella, and for offering to help otherfamilies while raising awareness of VCFS.Beth can be reached atBeth Suschil32667 Willowbrook LaneNorth Ridgeville, OH 44039Tel: 440-665-8284Email: bsuschil@windstream.netThis is a picture of Dianne Altuna, AshliCheung and Ainsli Cheung at the Barnesand Noble in Dallas.Mike Stalker, AnneStalker, Teri Lutzand Seth Lutz,founders of Mission 22q at the vineyardwhere they had their wine-tastingfundraiser.*****************************************Meet BellaWe’d like towelcome BethSuschil who hasvolunteered tobegin a supportgroup in theNortheast Ohioarea. Bethrecently sharedsome information with us about her 5 yearold daughter who was Beth’s inspiration tostart the group. Beth writes, Bella, whowas diagnosed within a week of birth“thanks” to respiratory issues…hasasthma, encopresis, a very small andcrowded mouth, hypernasal speech andsocial/emotional challenges and learningdifficulties (not severe—just borderlineenough to make me have to fight likecrazy to keep her in early intervention).Despite all that, she is an incredibly happyand loving child, and her strength indealing with all of her challenges at such ayoung age truly inspires me. Every day is a*****************************************The Dallas- based VCFS support group hasbeen very busy. In October, they hosted apicnic for families. The weather was beautiful,and everyone had a great time. Thissame group "Wrapped for Awareness" thisholiday season. A group of parents andstudents from the University of Texas atDallas (Department of CommunicationDisorders) wrapped books at Barnes andNoble. ."Wrapping for Awareness" is aneasy and fun way to raise funds for anynon profit group. The Dallas VCFS supportgroup donated 29 hours of gift wrappingtime. In return, donations were acceptedfor the VCFSEF. A thank you brochure wasgiven to each customer. It was a fun wayto meet people from the community, andraise awareness about VCFS and theFoundation. Other support groups aroundthe country should consider this for the2011 Holiday season.

Page 13vcfsef January 2011 newsletterfrequently AskeD questionsQuestion: Any reasons why my 12 week old might suddenly start vomiting up a feed and generally looking very uncomfortable after afeed with retching/coughing and gagging (like he needs to throw up? Also, he is only having bowel movements every third or fourthday. Should I ask for a barium swallow?Answer (From Dr. Robert Shprintzen): Although many people will recommend barium swallows or modified barium swallow studiesto assess problems with eating, these procedures should be avoided as much as possible. These procedures involve ionizing radiationand there is a considerable amount of direct radiation exposure to the neck, specifically the thyroid gland. In infants and children, thethyroid gland is actively growing. Radiation exposure to the thyroid gland on multiple occasions is considered to be a risk factor forsubsequent thyroid abnormalities. In most cases, such X-rays are unnecessary for the diagnosis of problems of swallowing. A goodclinical examination guided by a careful history and a knowledge of VCFS should help to pinpoint the problem. In some cases,endoscopy of the upper airway, the esophagus, or the lower airway may be indicated.It is also important to try to make sure he has a bowel movement every day. Speak to your pediatrician about adding some additionalfluid to his diet, such as grape juice (a very nutritious mild laxative). Avoid apple juice, especially the unfiltered type; it is bindingbecause it is high in pectin. Ask your pediatrician if some Miralax or similar laxative would be helpful. If he is not pooping enough,his belly will feel full and this will make him uncomfortable, and if food does not clear his stomach, he will be much more likely tovomit. What he is doing is vomiting (emesis), not reflux. Another issue in babies with VCFS is that babies with complex congenitalheart disease often have vascular constrictions of the esophagus. This prevents food from clearing the espophagus quickly enough,and if it sits there for even a few minutes, it will induce retching and vomiting. If vascular compressions are the cause of the problem,the best treatment is age and growth. In the final analysis, if he is gaining weight and doing OK, clean it up and move on. Keep himregular with his bowel movements and don't feed him too much if his belly is already full.DO YOU FACEBOOK?Over 1,200 people have joined our group, The VCFS Educational Foundation on Facebook. There areactive discussions on a variety of subjects, ranging from potty training to issues affecting adults withVCFS. Group members are from all over the world – Malaysia, Japan, Australia, Ireland, UK, Croatia,Chile, Mexico, Canada, the US and many other places. We’ve got relatives of people with VCFS,people with VCFS, and many professionals who are on there responding to questions and taking partin lively discussions. We invite you all to join!Just remember, being a member of the FB group does NOT automatically make you a member of the VCFS EducationalFoundation. To join the EF, that’s us, the group publishing this newsletter and sponsoring international scientific meetingsevery year, and publishing brochures, and offering a toll-free phone for questions, and a website with all kinds of information,go to our website at www.vcfsef.org and complete the membership application, That’s all there is to it. This will also giveyou access to our members-only features such as power point presentations from past conferences. Dues are VERY low, butcan be waived if payment would present a hardship, so please do not hesitate to check us out.See you online!

Page 14vcfsef January 2011 newsletterPlease enter my greeting in the handbook distributed at the 18 th Annual International Scientific Meeting of the VCFSEducational Foundation, Inc., the proceeds of which will be used to support the meeting and to further the educationalmission of the VCFSEF. The VCFS Educational Foundation is a 501(c)3 organization. Donations are tax-deductible to thefull extent of the law.Instructions: E-mail submission preferred. Email this form and ad (jpeg only, b&w only) toconference@vcfsef.org. Submit payment via PayPal (link from www.vcfsef.org). Form is not completeuntil you enter PayPal confirmation date and number in Section 3. If submission is made by regularmail: send completed form and camera-ready ad to VCFSEF Conference, PO Box 874, Milltown, NJ08850. Enclose a check payable to the VCFS Educational Foundation, Inc. (US funds only) or PayPalconfirmation information.FOR DISPLAY ADS OR DISPLAY GREETINGS: PART 1 (advertiser or donor information)Ad Authorized by:(contact person)Company name:ADVERTISER INFORMATIONPhone:18 th Annual International Scientific MeetingJuly 14-17, 2011New Brunswick, New Jersey USAHANDOUT BOOK SUBMISSION FORMFor DISPLAY ADS & GREETINGSThis completed form AND camera-ready advertisementAND full payment must be received NO LATER than11:59 PM EST on April 30, 2011.FaxStreet Address:City:Advertiser emailState:address:Advertiser website: Country ZipCheckoneDisplay ads and greetings: PART 2(size of ad)Black type on White Background only;jpeg format for online submissionBack Cover $1,000Full page (8” x 11”) $650Half page $350Quarter page $200Eighth page (businesscard) $150Display ads and greetings: PART 3 (payment)Name#, streetApt #CityStateCountryPlease complete each section fully, PRINT clearly ortype. Thank you very much!Display ads and greetings: PART 4Ad solicited by:ZipcodePayPal confirmation #PayPal dateTotal amount ofpaymentCheck enclosed Check #EmailPhone#CheckoneMember of VCFS Educational Foundation?O yesO no

Page 15vcfsef January 2011 newsletter18 th Annual International Scientific MeetingJuly 14-17, 2011New Brunswick, New Jersey USAHANDOUT BOOK SUBMISSION FORMFor SINGLE-LINE GREETINGSALL ads AND full payment must be received NO LATERthan 11:59 PM EST on April 30, 2011.Please enter my greeting in the handbook distributed at the 18 th Annual International Scientific Meeting of the VCFSEducational Foundation, Inc., the proceeds of which will be used to support the meeting and to further the educationalmission of the VCFSEF. The VCFS Educational Foundation is a 501(c)3 organization. Donations are tax-deductible to thefull extent of the law.Submit to: VCFS Educational Foundation, Inc., PO Box 850, Milltown, NJ 08850. Attention: CONFERENCEBOOK or email to conference@vcfsef.org.FOR SINGLE-LINE LISTED GREETINGS and SPONSORSHIPS: PART 1Please complete ALL information about the DONOR.Name to be listedin Handout Book:Company name (ifapplicable):Street Address:Print CLEARLY or type. We are not responsible for spelling errors.Phone:City: State: Zipemail addr:CountryGreeting and Sponsorships: PART 2Check oneCategory AmountenclosedPresident!s Circle$5,000+Founder$1,000 - $4,999Benefactor$500 - $999Patron$100 - $499Supporter$1 - $99Dedicate your Greeting orSponsorships: PART 3In honorof:In memoryof:Payment enclosedCheck # _________Online payment: Write inPaypal confirmationnumber________________Please complete each section fully, PRINT clearly ortype. Thank you very much!Greeting and Sponsorships: PART 4Ad solicited by: (indicate if self)Name#, streetApt #CityStateCountryEmailPhone#Zipcode

Page 16vcfsef January 2011 newsletterDonor honor roll / noveMBer-DeceMBer 2010FOUNDER ($1000-$4999)Shoemaker Family Fund/Fidelity Charitable Gift FundBENEFACTOR ($500-$999)Deborah Buellin support of Ragan O’Malley “Run for Awareness in the NY Marathon”PATRON ($100-$499)Jill Lorisin honor of Katie CooperPeter and Beth Kallmanin honor of Katie CooperPaul and Barbara Cooperin honor of Katie CooperLori Swallain honor of Sean BoehmChristine MacDonaldAgonian Alumni AssociationIn support of Ragan O’Malley “Run for Awareness in the NY Marathon”John IstelAnn ArmbrusterDianne AltunaGordan and Lynn HastingsDavid and Stacey KramerSarah CrichtonAlice and Robin GriffithsLori BongiornoGabriell HowardAlexandra ChavchavadzePeter Davidson and Katherine McGheeSteven Schindler and Susan KathLeslie HortzellSusan Gushee O’MalleyMaria del Carmen DominguezDONORS ($1-$99)Valerie AndersonCatherine EdwardsDanna SmithRachel Hooverin honor of Alexander Javier GonzalesRichard and Amy Sussmanin honor of Katie CooperRichard and Sharon GoldnerAmber ValenzuelaContinued on page 15

Page 17vcfsef January 2011 newsletterDONOR HONOR ROLL / NOVEMBER-DECEMBER 2010(Continued from page 14)DONORS (continued)in support of Ragan O’Malley “Run for Awareness in the NY Marathon”Rachel TousendTricia ReixachStephanie SchraggerJoelle ZimmermanNavid KairmeddingRosemary ColtinEva Zasloffune Tillotson NormanJoseph GrossPatricia TheodosopoulosKaren TomsonAnn FoleyDenise RinaldoAmy FontaineMarjorie MeredithNancy RileyPerla Delson-Delson or Sherman ArchitectsJohn F. MorganElaine BrewsterMelissa KantorDwight and Christine HastingsDiana LomaskEditor’s note: We want to thank all of our generous donors for their support of the VCFSEF which relies on membershipdues and donations for it’s funding.

Page 18vcfsef January 2011 newslettervcfsef DonAtion forMThe Velo-Cardio-Facial Syndrome Educational Foundation, Inc is an organization comprised of both professionals and lay people. It'smission is to educate the public, the scientific community, families and individuals affected by Velo-Cardio-Facial Syndrome (VCFS).Also known as DiGeorge & 22q.11.2 deletion, VCFS is one of the most common genetic syndromes.Your donation helps support the Foundation's mission and is greatly appreciated. You may also make a donation online at:http://www.vcfsef.org/support_foundation/donations.htmlDonor Name(s)AddressCity State Postal Code CountryHome TelephoneEmailVCFSEF, Inc is a US 501(c)(3) non-profit organization. Donations are US tax-deductible to the fullest extent of the law.Please consider a donation to support our efforts:STEP 1: Donation Amountq President’s Circle $5,000+ $_________________q Founder’s Circle $1,000q Benefactor $500q Patron $100 - $499 $_________________q General: $_________________STEP 3: Enter Name (if applicable)q In Honor of:______________________________________________q In Memory of:STEP 2: Select Donation Fundq General Donation- Educational and awareness materialsq Caitlin Lynch Memorial Fund- Provides scholarships for the VCFSEF annual meetingq Tony Lipson Memorial Fund- Helps members from Australia to attend the VCFSEFannual meetingsq Amanda McPherson Fund- Supports layout, printing, and distribution of informationalbrochures in multiple languagesq Kid’s Zone Fund- Supports childcare and children's activities for childrenwith VCFS and their siblings during the Annual InternationalScientific Meeting so that professionals with children andparents may attend sessions._______________________________________________My company has a matching gift program:Company NameAddressCity State Postal CodePlease include this completed form with your paymentmade payable to:VCFS Educational Foundation, Inc.P.O. Box 874Milltown, NJ 08850Total Enclosed $ ____________________

Page 19vcfsef January 2011 newslettervcfsef MerchAnDise & “knoWleDge is hoPe” BrochureKnowledge Is Hope BraceletsPromote VCFS awareness by purchasing "Knowledge is Hope" wristbands, available inAdult size (8 1/4") and Child size (7 1/4"). The wristbands are made of 100% silicone andread KNOWLEDGE IS HOPE on the outside of the band, with www.vcfsef.org on the inside.Each wristband is $1.50 US and shipping is FREE!!! Due to shipping costs, we suggest aminimum order of 5 wristbands for international purchases.You can purchase your bracelets directly from the foundation’s web site athttp://www.vcfsef.org/products/product_list.phpFor questions regarding wrist bands, contact wristbands@vcfsef.org.Educational Foundation Logo Tee-ShirtsPromote VCFS awareness by purchasing "Knowledge is Hope" tee-shirts, availablein youth sizes S, M, L and adult sizes S, M, L, XL, XXL, XXXL.The tee-shirts are white and made of 100% cotton, and read KNOWLEDGE IS HOPE,above the VCFSEF logo.You can purchase your tee-shirts directly from the foundation’s web site athttp://www.vcfsef.org/products/product_list.php. Each tee-shirt is $15 .00 US, withfree shipping in the U.S. and Canada. For orders of 4 or more, shipping outside the U.S.and Canada is also free.For questions regarding tee shirts, including shipping cost to other destinations,contact tshirts@vcfsef.org.Knowledge is Hope brochureThe "Knowledge is Hope ©" brochure published by the VCFS Educational Foundation,Inc is an 18 page booklet that contains basic information about velo-cardio-facialsyndrome for providers, families and others interested in learning more about VCFS. Itprovides an essential overview about the syndrome to facilitate proper diagnosis andtreatment. Order copies for you patients or care providers. You can order brochures directlyfrom the foundation’s web site at: http://www.vcfsef.org/brochures/index.php.The Knowledge is Hope brochure is currently available in the following languages:• English • Korean• French • Spanish• Italian • Japanese

Page 20vcfsef January 2011 newslettervcfsef MeMBershiP forM - Become a member today!Your dues help fund the website, toll-free phone line, education materials, mailings, and our annual international scientific meeting. Donationsand dues are the only source of funding for the Foundation. As a member you receive a discount on conference registration and access tothe members only section of our website. By becoming a member today, you’ll make it possible for the VCFS Educational Foundation tomove forward—to reach every continent. You may also register online at: http://www.vcfsef.org/support_foundation/memberships.htmlq New Membership q Renewal Membership dues are payable yearly, and apply to a calendar year, Jan 1 to Dec 31.First & Last Name: _________________________________________________________________________Include family members by providing name, relationship, age of child & VCFS diagnosis as applicable:1._________________________ 2.__________________________ 3.__________________________Mailing Address: ___________________________________________________________________________q home q work q Change of address _____________________________________________________________________________City State / Province Postal Code Country (if not USA)E-Mail: ____________________________________________________________________________________Contact Phone: (___________)_____________________________________ Ext:_______________________Area or Country Codeq Full Membership - $40q I have Velo-Cardio-Facial Syndrome q I have a family member with Velo-Cardio-Facial Syndromeq I am a professional working with individuals with VCFS. Field ________________________________________________q Other: _______________________________________________________________________________________________q Student - $20Professional degree student or resident interestedin a VCFS related field of study Field: __________________________Dues Total $_____________q Request waiver of annual dues for 2010VCFSEF, Inc is a US 501(c)(3) non-profit organization. Donations are US tax-deductible to the fullest extent of the law.Please consider a donation to support our efforts:Step 1: Donation Amountq President’s Circle $5,000+ $_________q Founder’s Circle $1,000q Benefactor $500q Patron $100-$499 $________________q General $__________________Step 3: Enter Name (if applicable)q In Honor of:_______________________________________________q In Memory of:_______________________________________________Step 2: Select Donation Fundq General Donationq Caitlin Lynch Memorial Fundq Tony Lipson Memorial Fundq Amanda McPherson Fundq Kid’s Zone FundPlease include this completed form with yourpayment made payable to:VCFS Educational Foundation, Inc.Attn: MembershipP.O. Box 874Milltown, NJ 08850Total Enclosed $ ______________AUTHORIZATION TO RELEASE INFORMATIONI hereby authorize the Educational Foundation to release my contact information as indicated below, to other members and to publish it in a directoryfor members. The purpose for this permission is to connect people in localities so that support can be offered and information distributed. TheFoundation WILL NOT distribute, sell, or otherwise release this information for any other purpose, or for the enhancement of individual doctors orhospitals. You may release my: q Name q Address q Phone # q Email address q Release NONESignature: _______________________________________________________________ Date: ___________________________________

Page 21vcfsef January 2011 newsletterDisclAiMerThe information contained in this newsletter is for informational purposes only, and should not be used to replace professionalmedical advice. Readers are responsible for how they chose to utilize this content. This information should not be considered complete,nor should it be relied on in diagnosing or treating a medical condition. It is best to seek advice and attention from your physician orqualified healthcare professional. Always consult your physician before beginning a new treatment, diet or fitness program.contAct inforMAtionIf you have further questions, including membership in our organization, please contact The Foundation via phone, post,or email, and we will assist you.Telephone:Toll Free 1-866-VCFSEF5 (1-866-823-7335)From outside the US: 1-732-238-5494Postal address:PO Box 874Milltown, New Jersey 08850USAElectronic mail:General Information:info@vcfsef.orgOfficersExecutive Director Karen J. Golding-Kushner, Ph.D execdirector@vcfsef.orgSecretary Christina Bush secretary@vcfsef.orgTreasurer Jennifer Stevens treasurer@vcfsef.orgEditor (2009) Sue Carneol, MS, CCC-SLP editor@vcfsef.orgProfessional CouncilMerav Burg-MalkiWendy Kates, Ph.D.Virgina Dixon, Wood-M.A., CCC-SLPLay CouncilKaren Ruckman Lindsay - 2009Philippe DE CLERCQ - 2010Ashli Chung - 2011meravbu@hotmail.comKatesW@upstate.eduwoodgl@peds.ufl.eduRuckmankb@yahoo.compdeclercq@wordshop.frashli@momerize.comEx-OfficioRobert J. Shprintzen, Ph.D, Past Executive Director shprintr@upstate.eduSteve Orton Past President ortonio@digis.netRegional DirectorsAsia and Africa Nagato Natsume, DDS, D Med Sci., Ph.D asia_africa@vcfsef.orgAustralia and New Zealand Linda Campbell australia@vcfsef.orgContinental Europe (co-Directors) Professor Stephan Eliez, MD europe@vcfsef.orgBronwyn Glasereurope@vcfsef.orgLatin America Antonio Ysunza, MD, Sc. D. latinamerica@vcfsef.orgMiddle East Doron Gothelf, MD middle_east@vcfsef.orgUnited States and Canada Dianne Altuna uscanada@vcfsef.org