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The Chromosome 22q11.2 Deletion Syndrome
A Multidisciplinary Approach to Diagnosis and Treatment
- 1st Edition - August 19, 2022
- Editor: Donna M. McDonald-McGinn
- Language: English
- Paperback ISBN:9 7 8 - 0 - 1 2 - 8 1 6 0 4 7 - 3
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 6 0 4 8 - 0
The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology,… Read more
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Request a sales quoteThe Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making.
As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder.
- Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition
- Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition
- Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field
- Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition
- Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Pediatric and adult healthcare providers who deliver treatment for individuals affected by chromosome 22q11.2 deletion syndrome including primary care providers, geneticists and genetic counselors, cardiologists, dentists, developmental pediatricians, endocrinologists, ENTs, gastroenterologists, general surgeons, hematologists, immunologists, neurologists, ophthalmologists, orthopedists, plastic surgeons, psychiatrists, urologists, educators, undergraduate and graduate students, psychologists and social workers, and therapists of all types including occupational, physical, speech, and behavioral therapists, as well as interested family members.
- Cover image
- Title page
- Table of Contents
- Copyright
- Dedication
- Contributors
- About the Editor
- Foreword
- Preface
- Acknowledgments
- Chapter 1: 22q11.2 deletion syndrome: Setting the stage
- Abstract
- History of the 22q11.2 deletion syndrome
- The 22q11.2 society
- 22q11.2 deletion syndrome: A tiny piece leading to a big picture
- Identification of the chromosome 22q11.2 deletion syndrome
- References
- Chapter 2: Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome
- Abstract
- Chromosome 22q11.2
- Genetic syndrome mapping to chromosome 22q11.2
- Laboratory diagnostic methods for chromosome 22q11.2 syndromes
- Additional types of deletions on chromosome 22q11.2
- Mechanism for meiotic 22q11.2 chromosome rearrangements
- Parental origin of the 22q11.2 deletion
- Filling in the gaps in sequence of the LCR22s and determining the deletion endpoints
- Phenotype versus deletion type
- Genes mapping to the 3-Mb LCR22A-D region and medical phenotypes
- Recessive disorders due to null mutations lead to atypical presentations of 22q11.2DS
- Phenotypic variance and possibility of genetic modifiers
- Genome-wide quests to find genetic modifiers of medical phenotypes
- Conclusions
- References
- Chapter 3: Embryonic development in 22q11.2 deletion syndrome
- Abstract
- Introduction
- Heart and vessel development in the context of 22q11DS
- Glandular development in the context of 22q11DS
- Abnormal development in mouse models of 22q11.2DS
- TBX1: Requirements in different cell types
- Chromatin modification and TBX1
- Brain
- Ear
- Thymus, parathyroid, and thyroid
- Facial muscles and facial skeleton
- Palatal and dental development
- Cranial nerves
- Renal and genitourinary development
- Bulb of the hair follicle
- Developmental role of selected other genes that may contribute to birth defects associated with 22q11.2DS
- Legend
- Perspectives
- Development of the cardiovascular and pharyngeal structures affected in 22q11.2 deletion syndrome
- References
- Chapter 4: Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
- Abstract
- Acknowledgments
- Introduction
- Cardiac phenotype of patients within the 22q11.2 population
- Cardiac surgery
- Other cardiovascular problems
- Cardiology diagnostic workup and follow-up recommendations
- Pregnancy and prenatal counseling in women and fetuses with 22q11.2DS
- References
- Chapter 5: The immune system in 22q11.2 deletion syndrome
- Abstract
- Acknowledgments
- Introduction
- The thymus
- Clinical features related to immunodeficiency
- Laboratory features
- Management
- References
- Chapter 6: Craniofacial abnormalities in association with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Craniofacial features
- Velopharyngeal dysfunction
- Surgical treatments
- Conclusion
- References
- Chapter 7: Otolaryngologic issues in association with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Experience evaluating a cohort of patients undergoing ENT surgery
- Ear surgery cohort
- Adenoidectomy/tonsillectomy surgery cohort
- Airway surgery cohort
- Summary
- References
- Chapter 8: Endocrine features of 22q11.2 deletion syndrome
- Abstract
- Introduction
- Hypoparathyroidism
- Growth
- Thyroid dysfunction
- Screening and management
- References
- Chapter 9: Gastroenterological manifestations associated with 22q11.2 deletion syndrome
- Abstract
- Background
- General approach to management
- Congenital GI abnormalities
- Esophageal atresia and tracheoesophageal fistula
- Intestinal malrotation
- Hirschsprung disease
- Anorectal malformations
- Other considerations
- Feeding and nutrition
- Clinical presentation
- Management
- Gastroesophageal reflux disease (GERD)
- Constipation
- Other common GI symptoms: Abdominal pain, nausea, and vomiting
- Conclusions and future directions
- References
- Chapter 10: Genitourinary abnormalities in association with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Urinary tract findings
- Renal anomalies
- Genetics of renal anomalies
- Collecting system (renal pelvis and ureter) anomalies
- Variable prevalence rates of urinary anomalies
- Lower urinary tract findings
- Bladder anomalies
- Urethral anomalies
- Genital tract findings
- Lower urinary tract dysfunction
- References
- Chapter 11: Hematologic and oncological manifestations of 22q11.2 deletion syndrome
- Abstract
- Introduction
- Platelet counts
- Bleeding risk
- Immune-mediated cytopenias
- Oncologic manifestations
- Summary/conclusions
- References
- Chapter 12: Skeletal anomalies associated with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Axial skeleton
- Extremities
- General skeletal manifestations
- Discussion
- References
- Chapter 13: Ocular findings in 22q11.2 deletion syndrome
- Abstract
- Introduction
- Posterior embryotoxon
- Sclerocornea
- Retinal vascular tortuosity
- Craniofacial features
- Strabismus
- Refractive errors
- References
- Chapter 14: Neurological features associated with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Epilepsy
- Developmental red flags
- Brain malformations
- Perisylvian polymicrogyria
- CEDNIK syndrome
- Spine malformations
- Movement disorders
- Conclusion
- References
- Chapter 15: Neurodevelopmental outcome, developmental trajectories, and management in 22q11.2 deletion syndrome
- Abstract
- Acknowledgment
- Introduction
- Neurodevelopment and factors contributing to the neurodevelopmental outcome in patients with 22q11.2DS
- Cognitive development in individuals with 22q11.2DS
- Divergent cognitive trajectories in 22q11.2DS
- Implications for clinical practice
- Future research
- Conclusion
- References
- Chapter 16: Speech and language manifestations in 22q11.2 deletion syndrome
- Abstract
- Introduction
- Definitions
- Language
- Speech
- Palate
- Conclusion
- References
- Chapter 17: Psychiatric profile in children and youth with 22q11.2 deletion syndrome
- Abstract
- Introduction
- The pediatric psychiatric phenotype in 22q11DS
- Understanding the variable phenotype
- Clinical implications
- References
- Chapter 18: Mental health in adults with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Diagnosis and general management issues
- Selected individual conditions and management highlights
- Other general management considerations
- Adherence to treatment, and consent and capacity issues
- Caregivers
- Future considerations
- Conclusion
- References
- Chapter 19: Primary pediatric care for children and youth with 22q11.2 deletion syndrome
- Abstract
- Introduction
- Pediatric clinical problems and treatment
- Constipation
- Infections
- Growth
- Hypocalcemia
- Orthopedic and postural problems
- Odontological problems
- Nephrology problems
- Age-dependent clinical problems
- Clinical guidelines
- Practical cautions and considerations for daily life1
- Conclusions
- References
- Chapter 20: Healthcare transitions for adolescents and adults with 22q11.2 deletion syndrome
- Abstract
- Defining transition
- Transition in patients with genetic syndromes
- Transition in patients with developmental disabilities and/or with behavioral health problems
- Transition in patients with 22q11.2 deletion syndrome
- Tools for developing an HCT program
- Transition programs in the authors’ experience: The American experience
- Educational materials for adult healthcare providers
- Family-friendly educational flyer
- Identification of CHOP adolescent/adult patients with 22q11.2DS
- The Italian experience
- Conclusion
- References
- Chapter 21: Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome
- Abstract
- Introduction
- Conclusions
- References
- Chapter 22: Quality of life: Educational, vocational, and life planning for individuals with 22q11.2 deletion syndrome
- Abstract
- Introduction
- An overview of the early life and school-age years
- The role of developmental neuropsychology
- Optimal timing for performing assessments
- Behavioral health monitoring
- Mindfulness-based stress reduction
- Screen time and social media exposure
- Sleep disorders
- Healthcare transition
- US Government support
- Decision-making supports
- Educational/vocational and transition planning
- College planning
- Additional postsecondary support services
- School or work?
- Vocational training
- Part-time and volunteer work
- Employment
- Independent living
- Conclusions
- References
- Chapter 23: 22q11.2 deletion syndrome: Future directions
- Abstract
- Introduction
- Phenotyping
- Identification of molecular causes of complex 22q11.2DS traits
- Identification of Mendelian genetic causes of phenotypic variability
- Conclusions
- References
- Chapter 24: General management principles for 22q11.2 deletion syndrome
- Abstract
- Introduction
- Early diagnosis and effective treatment improves general outcome
- Genetic counseling
- Newborn screening
- Attention to the multisystem nature of 22q11.2DS
- Goals to promote an optimal quality of life and functioning for the individual patient
- The impact of stress on quality of life
- Moving forward
- References
- Chapter 25: Medical needs associated with 22q11.2 deletion syndrome
- Abstract
- Introduction
- What are the medical needs?
- Glossary
- Index
- No. of pages: 524
- Language: English
- Edition: 1
- Published: August 19, 2022
- Imprint: Academic Press
- Paperback ISBN: 9780128160473
- eBook ISBN: 9780128160480
DM
Donna M. McDonald-McGinn
Professor Donna McDonald-McGinn MS, LCGC is a genetic counselor and Director of the 22q and You Center. She also serves as the Chief of the Section of Genetic Counseling and Associate Director of the Clinical Genetics Center at the Children’s Hospital of Philadelphia and Clinical Professor of Pediatrics at the University of Pennsylvania School of Medicine. She has been a staunch advocate for professional and lay education and awareness in the area of the 22q11.2DS since the inception of her Center in 1994. She joined parent activists in establishing the International 22q11.2 Foundation in 2003 and her professional colleagues in forming the International 22q11.2 Modifier Gene Consortium in 2006, the 22q11.2 Society in 2013, and the International 22q11.2 Brain and Behavior Consortium in 2012 where she leads a group of 22 clinical and 5 genomic sites working to identify biomarkers for associated behavioral phenotypes as PI of a $12M NIMH grant. She has partnered with family organizations to improve detection, awareness, care, and quality of life for those individuals and families affected by 22q11.2DS including collaborating to establish diagnosis specific growth charts and pediatric and adult healthcare guidelines; petitioning governments towards initiating newborn screening for 22q11.2 deletion syndrome and organizing events such as 22q at the Zoo - Worldwide Awareness Day.
Affiliations and expertise
Professor of Clinical Pediatrics, Perelman School of Medicine of the University of Pennsylvania; Director, 22q and You Center; Chief, Section of Genetic Counseling; Associate Director, Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USARead The Chromosome 22q11.2 Deletion Syndrome on ScienceDirect