DiGeorge syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It occurs in about 1 in 4,000 births and is characterized by congenital heart defects, immune system problems, learning disabilities, and delayed development. Physical therapy can help address orthopedic issues, low muscle tone, and delayed motor milestones through specialized exercises tailored to each child's needs and limitations. Research studies have found that children with DiGeorge syndrome perform significantly worse on tests of manual dexterity and visual-motor coordination compared to typically developing children matched for IQ.

1. DiGeorge Syndrome
Kelsey Zane, SPT
University of St. Augustine – Internship II
A Physical Therapists Perspective

2. About DiGeorge Syndrome:
• Defined as a genetic abnormality
• Occurs 1 in every 4,000 births
• Often the first in the family to have
this syndrome
• No cure is currently available

3. Pathology
• Specifically a microdeletion at 22q11 on the
chromosome, on the “long” or “q” arm of the
chromosome (from chromosome 22 at the
q11.2 band)..
• The deletion can cause various syndromes
including:
• velocardiofacial
• conotruncal anomaly face syndrome
• autosomal dominate
• opitz G/BBB syndrome
• calyer cardiofacial syndrome
• sphintzer syndrome.

4. Typical Presentation
A few major challenges for these children are congenital heart
defects including:
• Tetrology of Fallot (Ventricular Septal Defect, Overriding Aorta,
Pulmonary Stenosis, R Ventricular Hypertrophy)
• Interrupted aortic arch
• Vascular ring
• Truncus Arteriosus

5. Common Medical Complications
• Orthopedic issues
• Club foot, scoliosis, cervical spine abnormalities
• Delayed milestones
• Height (growth), language, gross/fine motor skills
• GERD (gastroesophageal reflux disorder)
• Hypocalcemia
• Immune system disorders (recurrent ear infections,
respiratory infections, autoimmune diseases)
• Kidney disorders (35% of children)
• ENT problems
• Cleft lip and palate
• Behavioral
• Autism spectrum disorder, Obsessive compulsive
disorder (OCD)
• Inguinal, umbilical and diaphragmatic hernias
What is CATCH??
• C – cardiac
• A – abnormal facial features
• T – Thymic hypoplasia (immunodeficiency)
• C – Cleft palate
• H – hypocalcemia (secondary to
parathyroidism)

6. Rehabilitation
• CCS Eligibility
• Full scope Medi-Cal a/o
supplemental insurance
• Recommendations:
• Creative ways to get the
child’s attention and
encourage movement
• Involvement of
parents/caregivers when
creating the HEP
Orthopedic issues Creative Interventions/HEP
Club foot serial casting, stretching, functional
movement training/strengthening
Incorporating into rest breaks during
therapy
Scoliosis braces Placing folded towel on opposite
side pelvis when sitting (ie highchair)
Cervical spine
abnormalities
stabilization, pre/post-surgery
rehabilitation
Treat associated impairments
Delayed milestones
Gross motor
skills
motor control theory training (part-
task, massed practice, whole task
etc)
Obstacle course with specific
challenges for gross motor tasks
Cardiac issues
Decreased
endurance, lung
capacity and
poor energy
conservation
Aerobic capacity training/exercises Blowing bubbles, playing 3 little pigs,
singing happy birthday/blowing out
candles on a birthday cake

7. • Population: 28 children with DiGeorge syndrome and 28 typically developing children who were matched
by IQ level
• Outcome measures used:
• MABC (Movement Assessment Battery for Children): norm ranked assessment for kids 4-12 yo. 3 areas included:
manual dexterity, ball skills, static/dynamic balance with two types in each subset that are either time or error
related.
• KTK (German translation of Korper Coordination Test fur Kinder): dynamic coordination and body control for kids 5-
14 yo with scores translated into a “motor quotient” and the higher the score, the better the motor performance.
• Beery (Beery-Buktinica Developmental Test of Visual-Motor Integration): performance is converted in percentile
scores and the higher the score the better.
• IQ
• Data collected for about a year and a half
• Results: manual dexterity was significantly lower for the group of children with DiGeorge syndrome.
Evidence Based Practice Example: Research Study by Van Aken et al (2009)
Another area affected was visual-motor coordination in children with DiGeorge
syndrome.

8. Thank You!
• Dempster Family Foundation:
(http://dempsterfamilyfoundation.org)
• Facebook Support Groups/Family pages
• Support of Disorders for Chromosome 22:
(http://www.c22c.org/vcfs.htm)
• Mayo Clinic:
(http://www.mayoclinic.org/diseases-
conditions/digeorge-syndrome/basics/coping-
support/con-20031464)

9. References
1. Genetics for Medics: http://genetics4medics.com/digeorge-syndrome.html. Accessed May 15,
2015.
2. Nationwide Children’s Hospital: 22q11.2 Center. http://www.nationwidechildrens.org/22q11-
deletion-syndrome. Accessed May 18th, 2015.
3. Van Aken, K., Caeyenberghs, K., Smits-Engelsman, B., & Swillen, A. The motor profile of
primary, school-age children with 22q11.2 syndrome (22q11.2DS) and an age- and IQ-
matched control group. Child Neuropsychology. 2009, 15: 532-542.
4. Vascular Ring: http://www.pted.org/?id=vascularring1. Accessed May 15, 2015.
5. Velo-cardio-facial Syndrome Educational Foundation: http://www.vcfsef.org. Accessed May
24, 2015.