Chromosome 22q11.2 Deletion Syndrome: An Introduction to Medical Issues

Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with 22q11.2 Deletion Syndrome Patients, provides an overview of the genetic causes and medical issues associated with Chromosome 22q11.2 Deletion Syndrome as well as ways in which they can be addressed.

0:00 Introduction
1:14 Kathy Angkustsiri, M.D. Developmental Pediatrician
3:23 Fluorescence In Situ Hybridization (FISH)
5:23 The Heran Family
7:30 Short Philtrum
7:34 Long Tubular Nose
7:37 Puffy Hooded Eyelids & Narrow Palprebral Fissues
7:43 Hypertelorism
7:52 Facial Assymmetry
8:20 The Clark Family
9:38 Gastroesophageal Reflux Disease (GERD)
9:59 Nissen Fundoplication
10:06 Gastrostomy Tube (G-Tube)
11:19 Otolaryngologist (ear/nose/throat doctor)
11:26 A Nasopharyngoscope
11:31 Submucous Cleft Palate
11:40 Bifid (Split) Uvula
11:59 Pressure Equalization Tube
12:18 Velopharyngeal Dysfunction (VPD)
13:50 Autoimmune Thrombocytopenia (low platelet count)
13:54 Hematologist
14:00 Small End of Growth Curve
14:18 Hypotonia (low muscle tone)
14:28 Leg Pain
14:39 Scoliosis
15:28 Echocardiogram
15:37 Electrocardiogram (EKG)
16:25 Tortuous Vessels
16:30 Strabismus (Lazy Eye)
16:35 Feeding Therapist
16:51 Abnormalities can be referred to an immunologist
17:06 Thyroid Function Test (TSH, FREE T4)
17:17 Thyroid Parathyroid
17:20 Growth Hormone
17:24 Obtain a baseline kidney ultrasound
17:28 Take C-Spine X-Rays after 4 years
17:45 Occupational Therapists

The UC Davis MIND Institute in Sacramento, Calif. is a unique, interdisciplinary research, clinical, and education center committed to deepening scientific understanding of autism and other neurodevelopmental conditions. It is a highly collaborative center, bringing together families, researchers, clinicians, community leaders and volunteers with the common goal of developing more personalized, equitable, and scientifically proven systems of support and intervention. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention deficit/hyperactivity disorder (ADHD) and Down syndrome.
 
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