Kleefstra Syndrome
By: Taylor Long
Causes Of Kleefstra Syndrome
75% caused by the microdeletion of 9q34.3 and 25% caused by a mutation of EHMT1.
Typical Outcomes for the Condition
Physical Therapy Treatments
Definition/ Description of the Condition
- Typical growth pattern
- Don’t normally talk a whole lot at first. Use signs and few babbling words
- Able to move independently with many years of physical therapy.
The course the condition takes
- Must work on developmental skills
- Most with KS can roll by 5 months and sit w/ support after 7 months
- Work on creeping (no bunny hopping)
- Walking, most begin walking independently between ages 3-7 years old
- Assisted devices may be used
Posterior walker
Supportive footwear
- These are low tone kids so must use smaller movements when working with them.
- Important to start working with them right away to help with low muscle tone
- Must work on balance too
Signs and Symptoms
- For the most part, pregnancy is normal
- Some say they notice less fetal movement
- As a newborn, some require breathing tubes for a few weeks
- Seem fine at first then notice a developmental delay as they progress
- Others show minor signs at birth
- Weak cry, feeding difficulties etc.
- Some think its Down Syndrome at first
- Defined as an intellectual childhood condition, resulting in hypotonia and recognizable facial features
Typical Medical Treatment cont'
Low Tone, Developmental delay, learning difficulty, recognizable facial features, heart conditions, seizures, squinting eyes (strabismus) , sleep difficulties
After being diagnosed patients must:
- Routinely go to the pediatrician, neurologist, and psychiatrist( for family too)
- Intervention programs ( age depending )
- Speech, physical, and occupational therapy
- Theraputic management for sleeping disorder
What it looks like
- Males and Females are affected equally
- Birth weight is usually normal then increases with age leading to obesity (50%)
- Total IQ normally around 70
- Affected individuals have only been identified in the past 5-10 years
How is this little girl sitting? How does she move ? Is this normal? Notice any abnormal facial features ?
Typical Medical Treatment
Bibliography
Those with Kleefstra Syndrome must be evaluated in many area.
Review of systems
Physical and Neurological examinations
Renal Ultrasounds
ECG for hear abnormalities
Speech/Language
Physical and Occupational Evaluations
Sleep History
EEG for seizures are suspected
- Kleefstra T, Nillesen WM, Yntema HG. Kleefstra Syndrome. 2010 Oct 5. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK47079/
- Schwaibold E, Smogavec M, Pauli S, et al. Intragenic duplication of EHMT1 gene results in Kleefstra syndrome. Molecular Cytogenetics (17558166) [serial online]. November 2014;7(1):1-12. Available from: Academic Search Complete, Ipswich, MA. Accessed March 17, 2015.
- http://www.rarechromo.org/information/Chromosome%20%209/Kleefstra%20Syndrome%20FTNW.pdf
- Ayyash, H., R. Mueller, E. Maltby, P. Horsfield, N. Telford, and R. Tyler. "A Report of a Child with a Deletion (9)(q34.3): A Recognisable Phenotype?" Journal of Medical Genetics. U.S. National Library of Medicine, n.d. Web. 19 Mar. 2015.