Lowe Syndrome

oculocerebrorenal syndrome of Lowe (OCRL)

This picture displays a young male with Lowe Syndrome. He shows the symptoms of impaired vision and decreased muscle tone.

Definition:

Lowe syndrome is a rare, metabolic, multisystem disorder affecting the eyes, nervous system and kidney

OVERVIEW OF LOWE SYNDROME

What causes Lowe Syndrome? o Lowe syndrome is caused by a defective gene that results in the deficiency of an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. This enzyme is essential to normal metabolic processes so a deficiency leads to various developmental defects including cataracts brain abnormalities, and kidney problems.

Prevalence:

Who gets Lowe Syndrome?

- 1 in 500,000 people In 2000, the Lowe Syndrome Association was aware of 190 affected males (which the LSA estimates is only 50% of the total number of people with the syndrome).

LS is an X-linked syndrome, so the majority of affected individuals are males. LS can occur in females when one X-chromosome is inactive and the active X-chromosome contains the mutation for Lowe Syndrome.

How is Lowe Syndrome diagnosed? o Lowe Syndrome can be diagnosed by a small skin sample called a fibroblast, a blood test, or a prenatal diagnosis.

Is there any treatment for Lowe Syndrome? o There is no cure for Lowe Syndrome. However, many symptoms can be treated through medication, surgery, physical and occupational therapies, vision therapy, mobility services, and special education.

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Possible Characteristics:
Elongated face Deep-set small eyes Renal failure Dental issues Speech delay Cataracts and impaired vision Hypotonia Mental retardation Seizures Epilepsy Autism Mood swings and behavior problems

Professional and Parent Organizations

o The Lowe Syndrome Foundation This organization allows family, friends, and anyone interested to donate time and money to people with Lowe Syndrome. The foundation also offers a way for families to connect with one another.http://www.lowesyndromefoundation.org/index.html o Contact a Family (CaF) This charity in the UK that provides support for parents of a variety of rare disabilities, including LS. http://www.cafamily.org.uk/ o Family Village This website offers people with special needs and their families a way to communicate and form connections with others as well as tips for education and recreational activities. http://www.familyvillage.wisc.edu/
Resources:
o Lowe Syndrome Association This association offers a complete overview of the syndrome itself and also offers information on testing, conferences, grants, family resources, and much more. http://www.lowesyndrome.org/index.html Genetic and Rare Disease Information Center (GARD) This resource offers both parents and professionals information on research studies, advocacy groups, and medical journals and databases. http://rarediseases.info.nih.gov/GARD/AboutGARD.aspx Rare Diseases Network This site provides frequently asked questions and links to other resources related to Lowe Syndrome. http://rarediseasesnetwork.epi.usf.edu/RKSC/lowe/ Emedicine This resource offers information on treatment, including medications and follow-up outpatient care. http://emedicine.medscape.com/article/946043-overview National Center for Biotechnology Information This site provides a more detailed description of Lowe Syndrome including genetic and historical information. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526415/

Implications for Teaching and Intervention

o Place the child where he or she can best view the teacher and board o Be aware of what to do and who to contact if he or she experiences seizures o Assist the child with fine motor skills yourself or request an aid if necessary/possible o Provide positive opportunities for the child to interact with the other children in order to improve social skills o Use literature and toys in the classroom that incorporate Lowe Syndrome into the class in a way the children can relate to