Medical and Behavioral Issues
in 22q11.2 deletion/VCFS
Nicole Tartaglia, MD
Fellow, Developmental-Behavioral
Pediatrics
November 2005
22q11.2 deletion
185 features of
VCFS
Diagnosis of VCFS
Large spectrum of involvement
Prenatal
Infancy (0-12 months)
Toddlers/Preschool (1-4 years)
School Age (5-10)
Adolescents/Young Adults
Medical Problems in VCFS
Heart / Cardiac Problems (75%)
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–
–
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Ventricular Septal Defect
Pulmonary Stenosis
Tetralogy of Fallot
Many other variations
Cleft Palate or Velopharyngeal Insufficiency
(75%)
– Velopharyngeal Insufficiency
– Cleft Palate (full, submucous)
– Hypernasal Speech, Articulation disorders
Medical Problems in VCFS
Immunologic Problems (25-30%)
– Thymic Aplasia
– Recurrent infections
Hypoparathyroidism (25%)
– Low calcium levels (hypocalcemia)
– Seizures
– Thyroid problems as well
Medical Problems in VCFS
Orthopedic Problems
– Flat feet
– Chronic leg pains
Hearing loss
Strabismus (lazy eye)
Constipation, stomach pains, feeding problems
Failure to thrive, short stature
Many others….
Physical Examination
Identify common facial features and
physical features
Screen for common medical complications
Developmental-Behavioral
Problems
Components of the Clinical Assessment include:
Screening for Neurodevelopmental and Mood
Disorders
–
–
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Developmental Delays
Attention Deficit/Hyperactivity Disorder (ADHD)
Screening for psychiatric problems
Anxiety, Depression, Schizophrenia, Bipolar
– Learning Disabilities
– Autism & Autistic Spectrum Disorders
Review of Current Interventions
– Speech therapy
– Occupational therapy
– Physical therapy
– Social skills
Review of IEP
– Goals
– Classroom placements
Clinical Assessment
Components
Review of medical problems related to 22q11.2
deletion and recommendations for further
evaluations/treatments
Physical Examination with emphasis on features
of 22q11.2
Screening for neurodevelopmental disorders
(ADHD, autism) and mental health disorders
Review of educational interventions
Other individual support as needed….
Contact Information
Nicole Tartaglia, MD
Fellow, Developmental-Behavioral Pediatrics
UC-Davis Medical Center MIND Institute
2825 50th Street
Sacramento, CA 95817
(916)703-0286
Nicole.tartaglia@ucdmc.ucdavis.edu