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Velo-Cardio-Facial Syndrome
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  • Cited by 7
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    This book has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Palomo, Tomas Kostrzewa, Richard M. Beninger, Richard J. and Archer, Trevor 2008. Schizopsychotic symptom-profiles and biomarkers: Beacons in diagnostic labyrinths. Neurotoxicity Research, Vol. 14, Issue. 2-3, p. 79.

    Prasad, Sarah E. Howley, Sarah and Murphy, Kieran C. 2008. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Developmental Disabilities Research Reviews, Vol. 14, Issue. 1, p. 26.

    Looman, Wendy S. Thurmes, Anna K. and O'conner-Von, Susan K. 2010. Quality of Life among Children with Velocardiofacial Syndrome. The Cleft Palate-Craniofacial Journal, Vol. 47, Issue. 3, p. 273.

    Dimond, Rebecca 2014. Negotiating identity at the intersection of paediatric and genetic medicine: the parent as facilitator, narrator and patient. Sociology of Health & Illness, Vol. 36, Issue. 1, p. 1.

    Dimond, Rebecca 2014. Parent-led conferences as sites of medical work. Health: An Interdisciplinary Journal for the Social Study of Health, Illness and Medicine, Vol. 18, Issue. 6, p. 631.

    Dimond, Rebecca 2014. Negotiating blame and responsibility in the context of a “de novo” mutation. New Genetics and Society, Vol. 33, Issue. 2, p. 149.

    Bose, Anushree Shivakumar, Venkataram and Venkatasubramanian, Ganesan 2018. Hallucinations in Psychoses and Affective Disorders. p. 133.

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  • Edited by Kieran C. Murphy, Education and Research Centre, Royal College of Surgeons of Ireland , Peter J. Scambler, Institute of Child Health, University College London
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    Velo-Cardio-Facial Syndrome
    • Online ISBN: 9780511544101
    • Book DOI: https://doi.org/10.1017/CBO9780511544101
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Book description

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

Reviews

Review of the hardback:‘This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialities (pediatric cardiology, ENT, medical genetics, etc.). The work presented here is unique, with no other similar books in the market. The integration of the different aspects of VCFS makes this a great instrument for multidisciplinary teams.‘

Source: Doody's Book Review Service

Review of the hardback:'… this book is a valuable trove of information for professionals and parents alike, and one that can be referred to for up-to-date information on all aspects of the syndrome. It is extremely detailed, yet clear, and some of the more difficult concepts are explained in a very comprehensible way.'

Source: Psychological Medicine

Review of the hardback:'Clinicians and scientists of different disciplines will all enjoy and benefit from reading this book.'

Source: Journal of Human Genetics

Review of the hardback:'The strength of this book lies in the depth of the clinical information. … clinicians, carers and parents will view this collection of clinical reviews as something of a treasure trove. The chapters are all well written, concise and informed. …definitely a book for the clinical library …'

Source: Human Genetics

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Contents

  • 1 - Historical overview
    pp 1-18
    • By Robert J. Shprintzen, Center for Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome Syracuse, New York, USA
  • View abstract

    Summary

    The recognition of velo-cardio-facial syndrome (VCFS) as a specific congenital malformation syndrome is a relatively recent development for so common a disorder. The failure to recognize VCFS earlier is probably related to a number of factors. Therefore, with the larger pattern of anomalies going undetected as a syndromic association, many earlier clinicians and researchers reported on the individual components of the syndrome as the focus of investigation, such as the speech problems, immune deficiency, endocrine disorders, and heart anomalies. As molecular genetics research moved forward, a number of candidate genes for the development of heart anomalies were identified. Molecular analysis showed that two of 100 cases studied had 22q11.2 deletions indicating that among people diagnosed as schizophrenic, there were likely to be individuals with VCFS. It was suggested that the psychiatric illness seen in individuals with VCFS was syndrome-specific and therefore was atypical for both schizophrenia and bipolar disorder.
  • 2 - Molecular genetics of velo-cardio-facial syndrome
    pp 19-46
  • View abstract

    Summary

    The occurrence of familial 22q11 deletion syndrome (22q11DS) raises the possibility of prenatal diagnosis for those families at risk, and parents of any new case should be offered deletion screening. Deletion of 22q11 is the most frequent interstitial chromosome deletion observed in man, begging the question as to whether there is any structural predisposition to chromosome rearrangements of this region. The single gene hypothesis predicted that a subset of those velo-cardio-facial syndrome/DiGeorge Syndrome (VCFS/DGS) patients with no apparent deletion of 22q11 would have a small deletion or point mutation inactivating the major gene haploinsufficient in the condition. The frustration at failure to find any loss of function mutations of DGCR genes in patients with no deletion prompted investigators to pursue animal models. Given the cognitive deficits and increased incidence of behavioral difficulty in 22q11DS attempts have been made to identify behavioral correlates in the mouse deletion model.
  • 3 - Congenital cardiovascular disease and velo-cardio-facial syndrome
    pp 47-82
    • By Bruno Marino, Department of Pediatrics, University of Rome “La Sapienza”, Italy, Federica Mileto, Department of Pediatrics, University of Rome “La Sapienza”, Italy, Maria Cristina Digilio, Department of Clinical Genetics, Bambino Gesù Hospital, Rome, Italy, Adriano Carotti, Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy, Roberto Di Donato, Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
  • View abstract

    Summary

    Cardiovascular defects (CVD) are an important feature in children with DiGeorge/velo-cardio-facial/conotruncal anomaly face syndrome (DGS/VCFS/CTAF) associated with a chromosome 22q11 deletion (del 22q11). This chapter describes the cardiac anatomy of CVD associated with VCFS and its diagnostic and surgical implications. Children with CVD and VCFS usually have laevocardia, viscero-atrial situs solitus with d-loop of the ventricle, and atrioventricular concordance. There is limited information available on the natural history and the clinical course of children with CVD and VCFS. Prenatal diagnosis of this association, by means of fetal echocardiography and amniocentesis is possible nowadays. Advances in pediatric cardiac surgery have made it possible to treat the majority of patients with CVD with a very low operative risk and excellent long-term outlook. Before cardiac surgery, all children with cardiac defects and VCFS need an accurate clinical investigation to exclude the presence of additional, extracardiac anomalies.
  • 4 - Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome
    pp 83-104
    • By Richard E. Kirschner, Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, PA, USA
  • View abstract

    Summary

    Structural and functional palatal anomalies are among the most common manifestations in velo-cardio-facial syndrome (VCFS), with cleft lip, cleft palate, and velopharyngeal dysfunction reported as features of affected patients. This chapter describes the spectrum of palatal phenotypes associated with VCFS and presents guidelines for their diagnosis and surgical management. The prevalence of 22q11 deletions among patients referred for evaluation of clefts of the secondary palate has been reported to be approximately 8%. The primary goal of cleft palate surgery is the establishment of a normal velopharyngeal valving system that separates the oral and nasal cavities during speech. By incorporating mirror-image Z-plasty incisions of the oral and nasal mucosa, Furlow's method lengthens the soft palate while preventing longitudinal scar contracture. Optimization of the management of velopharyngeal insufficiency in affected patients will ultimately require the completion of carefully designed, well-controlled prospective trials.
  • 5 - Nephro-urologic, gastrointestinal, and ophthalmic findings
    pp 105-122
    • By Koen Devriendt, Centre for Human Genetics, University Hospital Leuven, Belgium, Nathalie Rommel, Centre for Paediatric and Adolescent Gastroenterology, Women's and Children's Hospital, Adelaide, Australia, Ingele Casteels, Department of Ophthalmology, University Hospital Leuven, Belgium
  • View abstract

    Summary

    Three systems frequently involved in velo-cardio-facial syndrome (VCFS) are the nephro-urologic and the gastrointestinal systems and the eyes. This chapter discusses the pathogenesis and clinical aspects of these anomalies. It then briefly deals with some other nephro-urological manifestations of VCFS, enuresis, and nephrocalcinosis. The prenatal presentation of uropathies is a special situation. Most cases with a conotruncal heart defect that have been detected antenatally are isolated, but it may be of interest to detect those cases with VCFS. Normal swallowing is usually divided into oral-preparatory, oral, pharyngeal, and esophageal phases. The chapter describes normal feeding and swallowing development as it relates to the feeding pathology seen in infants and children with VCFS. Despite the frequent finding of various ophthalmological manifestations in VCFS, serious ocular involvement is uncommon. It is clear that further research is needed to evaluate the frequency of visual impairment in patients with the VCFS.
  • 6 - Immunodeficiency in velo-cardio-facial syndrome
    pp 123-134
  • View abstract

    Summary

    Velo-cardio-facial syndrome (VCFS) is one of a number of syndromes which are associated with monosomic deletions of chromosome 22q11.2. In the older child, school issues are common and the physician can often provide insight into the optimal learning environment for the child; however, this seldom is affected by the presence of immunodeficiency. The immunodeficiency does not correlate with any other clinical feature. This makes it difficult to determine which infants should be screened for immunodeficiency. The most conservative approach would be to perform simple screening studies for T-cell defects. Infants suspected of having VCFS/chromosome 22q11.2 deletion syndrome should have FISH analyses performed. The 22q11.2 deletion and the 10p deletion should be sought and can be tested simultaneously. Humoral immunity should be assessed in patients with recurrent infections. Although chromosome 22q11.2 deletion syndrome is classically considered a T-cell defect, there may be secondary antibody deficits.
  • 7 - Behavioral and psychiatric disorder in velo-cardio-facial syndrome
    pp 135-146
    • By Angela F. Stevens, Institute of Psychiatry, King's College London, UK, Kieran C. Murphy, Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland
  • View abstract

    Summary

    This chapter discusses the components of the behavioral phenotype in velo-cardio-facial syndrome (VCFS), namely, the high rates of behavioral and psychiatric disorder seen in VCFS children and adults. It summarizes the principal studies of the psychiatric phenotype in VCFS individuals. The most reliable criteria to determine whether the association between VCFS and schizophrenia is valid should involve: increased frequency of schizophrenia in VCFS individuals, increased frequency of VCFS in people with schizophrenia and susceptibility locus for schizophrenia should map to 22q11.2. A major goal of psychiatric and especially schizophrenia research over the past three decades has been the identification of precursor symptoms and areas of dysfunction in children and adolescents which precede the later development of major psychiatric disorder in adults. Difficult behaviors seen in children with VCFS can be approached using behavioral modification techniques including the use of token economies and reward schemes.
  • 8 - The cognitive spectrum in velo-cardio-facial syndrome
    pp 147-164
    • By Linda Campbell, Institute of Psychiatry, King's College London, UK, Ann Swillen, Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
  • View abstract

    Summary

    This chapter reviews the different studies of cognition in velo-cardio-facial syndrome (VCFS), in order to delineate the cognitive phenotype of individuals with VCFS. In order to investigate the underlying basis of the observed impairments as well as areas of relative proficiency in intellectual and academic ability, it is important to use tasks specifically designed to tap into these neuropsychological functions. From the previous reported deficits of nonverbal and mathematical abilities from psychoeducational measures, it is clear that further analysis of spatial cognition in this population is required. Delayed speech and language development is one of the most consistent features in VCFS and a major concern to parents of children with VCFS. The majority of studies of cognition in VCFS have focused on psychoeducational profiles and communicative skills in children with VCFS in order to identify appropriate remedial approaches to the needs of this group.
  • 9 - Neuroimaging in velo-cardio-facial syndrome
    pp 165-180
    • By Stephan Eliez, Division of Child and Adolescent Psychiatry, Geneva University School of Medicine, Switzerland, Therese van Amelsvoort, Department of Psychiatry, Academic Medical Centre, Amsterdam, Holland
  • View abstract

    Summary

    This chapter discusses the currently available neuroimaging literature in people with velo-cardio-facial syndrome (VCFS), and explains how this contributes to our understanding of the neurobiology of schizophrenia in the general population. Several publications have investigated quantitative volumetric changes in VCFS children and adolescents. Structural alteration of the cerebellum in children and adolescents with VCFS was congruent with several qualitative studies reporting reduction in posterior fossa, cerebellum, or vermis. Using cross-sectional data analysis, changes of temporal and mesio-temporal lobe structures in individuals with VCFS compared with typically developing subjects were investigated. Imprinting is a genetic mechanism in which gene expression is modulated by the parental origin of the chromosome on which the gene is located. Research on imprinting has shown that parental origin of a genomic deletion can affect the physical and cognitive phenotype of individuals with the genetic disorder.
  • 10 - Speech and language disorders in velo-cardio-facial syndrome
    pp 181-199
  • View abstract

    Summary

    Speech, language, and learning problems are among the most common characteristics of velo-cardio-facial syndrome (VCFS). This chapter describes the current understandings of speech and language patterns and best treatment practices for individuals with VCFS. Many of the voice and resonance characteristics prevalent in VCFS may be attributed to morphologic and physiologic features of the syndrome. Disorders of vocal pitch in VCFS are not easily treated therapeutically, especially when caused by a morphological deviation. Speech pathologists use a variety of procedures to treat disorders of vocal quality, depending on the cause of hoarseness. Individuals with VCFS may also have a disorder of oral resonance referred to as "potato-in-the-mouth" or "marshmallow-mouth" resonance. Children with VCFS may have four different classes of articulation errors: developmental, phonological, obligatory, or compensatory. Articulation therapy is effective in eliminating compensatory articulation disorders in children with VCFS. However, treatment must be intensive, frequent, individual, concrete, and highly organized.
  • 11 - Genetic counseling
    pp 200-218
  • View abstract

    Summary

    The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velo-cardio-facial syndrome (VCFS) and conotruncal anomaly face syndrome and in some patients with autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In looking at the inheritance of the 22q11.2 deletion, it is clear that the majority of cases occur as a de novo event. This is reportedly due to the inherent structure of the deletion. Specifically, a number of low copy repeats make this region especially susceptible to rearrangements. Genetic counseling for an adult with the 22q11.2 deletion is often quite difficult due, in part, to the wide inter- and intrafamilial variability of the deletion. Genetic counseling for the general population is more complicated and should be considered on a case-by-case basis when anatomic abnormalities are seen on fetal ultrasonography, or following significant findings from a careful family history.
  • 12 - Family issues
    pp 219-229
  • View abstract

    Summary

    The impact on the family on finding that their newborn is going to need a lot more care and attention than other children puts a huge strain on everyone involved. The social implications for the velo-cardio-facial syndrome (VCFS) child or adult are enormous. As babies they are often small and developmentally delayed but do not look out of place in a pram/pushchair even at the toddler stage. As the children mature, they usually appear "normal" at first sight to those who do not know them although some displays of immature social behavior are often noted. A clear and sympathetic understanding on the part of the physician and a full explanation of the risks and benefits of the various treatment options available is very important to ease the pain and frustration that many parents and other family members experience.

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