Alstrom Syndrome A very rare genetic disease with just over 1000 identified cases worldwide By Laura Glass Saskatoon has 3 known cases, with myself teaching one of them.

What is Alstrom Syndrome? “Alstrom Syndrome is a rare complex genetic disorder associated with a wide variety of symptoms affecting multiple organ systems of the body.”, (NORD, 2013). Carl-Henry Alstrom was born in 1907 in Sweden received doctorate in psychology in 1935 conducted genetic research in the 40’s In 1959 he described 3 patients in his manuscript describing the symptoms of Alstom Syndrome NORD – National Organization for Rare Disorders It was at the Serafimerlasarettet Hospital in 1946 that he saw a 14 year old boy who appeared to have symptoms similar to the Laurence-Moon-Bardet-Biedl Syndrome, yet this patient’s condition was different in several important ways. The child had retinal degeneration and obesity bearing a similarity to LMBBS, but also exhibited neurological hearing impairment and normal mental development. Alström was so interested in this case that he continued to followed it up after he moved to the Karolinska Institute. described these three patients in an elegant and very thorough manuscript published in 1959, detailing the apparently recessive hereditary combination of retinal degeneration, obesity, sensorineural hearing loss, and diabetes. Family history is considered a major criteria in the diagnosis of Alstom Syndrome. The identification the ALMS1 gene in the presence of typical clinical features confirms diagnosis.    

Associated Medical Conditions Vision loss/Hearing loss Obesity/Type 2 Diabetes Cardiomyopathy – enlargement of the heart’s lower chambers due to a weakened heart muscle Acanthosis Nigricans – a skin disorder characterized by a increased pigmentation and velvety thickening Pancreatitis – due to elevated levels of certain fats in the blood Enlarged liver and spleen Kidney disease, including kidney failure *Not all patients develop all symptoms. They do vary from person to person. http://www.everythinglubbock.com/news/local-news/heartbeat-world-rare-disease-day

Eye Conditions/Parts of the Eye Affected Some of the first vision symptoms, nystagmus and photophobia, are revealed at birth. They are caused by the slow degeneration of the retina Typically the cones deteriorate first in the eyes of children who have Alstrom Syndrome  As they get older the rods may also stop working. This eye condition is called cone-rod dystrophy, sometimes diagnosed as retinitis pignentosa  Some develop cataracts The photoreceptors that are used for color vision and seeing in well-lit situations are called “cones.” Typically the cones deteriorate first in the eyes of children who have Alstrom Syndrome. The photoreceptors that remain are called “rods.” They work best in dimly lit situations. The rods may also stop working as the person who has Alstrom Syndrome gets older. This eye condition is called cone-rod dystrophy. Sometimes it is diagnosed as retinitis pigmentosa.  Vision gradually decreases during childhood, and by late teen years people who have Alstrom Syndrome are left with very little or no vision It is important to anticipate vision loss and begin Braille skills and orientation and mobility training early.

Functional Implications 1. Photophobia and Nystagmus 2. Low Visual Acuity 3. Visual Fields 4. Color Vision

Functional Implications – Photophobia and Nystagmus Cone-rod dystrophy is a form of retinal dysfunction, therefore many individuals with Alstrom Syndrome develop photophobia, light sensitivity. Red/orange tinted prescription lenses can help reduce light sensitivity. Move the student to a position within the class where the glare is not reflected off windows, mirrors, wet or shiny surfaces, or white and brightly coloured surfaces. Sunglasses and a hat are worn outdoors and perhaps indoors as well. My student and I work on our braille literacy skills in a room that has a dimmer switch. Control the light within the school building by the use of blinds on windows  

Functional Implications–Low Visual Acuity Usually less than 20/200 by age 3 (Malm, E et al, 2008) By 9 years of age, approximately one-third of patients are totally blind; 50% by age 12, and 90% by age 16 (JD Marshall et al, 2007) Dual media is often used, however Braille literacy must be introduced at a young age Some individuals can read large print into their third decade, although this is rare May benefit from a CCTV and magnifiers My 6 year old student with Alstrom Syndrome currently has a 20/650 visual acuity.

Functional Implications – Visual Field Loss. Increasing constriction of visual fields Orientation and mobility training Keep the classroom layout as static as possible Seating in the classroom should be where the child’s seeing field is maximized for visual materials presented and to view the teacher during instruction, usually in the front and centre   -Visual fields tested with Goldmann perimetry - with severe constricted peripheral limits at the ages of 7 and 12 years. 

Functional Implications – Color Vision Due to developing cone-rod dystrophy, color perception is affected Present materials on backgrounds that offer high contrast to the objects being viewed. Students can print or draw using black markers on white paper. Label pictures with color words such as maps or diagrams. Cone cells are found throughout the retina with the highest concentration clustered in the oval-shaped, yellowish area near the center of the retina (macula). Cone cells are involved in the part of vision that enables a person to see fine details, read or recognize faces. Cone cells also play a role in the perception of color.  My student has a black finish on the top of her desk  

Helpful Resources Alstrom Syndrome International: They provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome. https://www.alstrom.org/ NORD: National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/alstrom-syndrome/ Our textbook! Foundations of Low Vision. Regardless of the diagnosis we use adaptations/accommodations that fit the specific functional vision implications for each of our students.

Please Remember…. ……that intelligence is usually unaffected in individuals with Alstrom Syndrome!! Show iMovie with my student

References: Alstrom Syndrome International website. (2015). Supporting those affected by Alstom Syndrome. Retrieved from https://www.alstrom.org/ Practical Genetics. (2007). Alstom Syndrome. Retrieved from http://web.b.ebscohost.com.ezproxy.msvu.ca/ehost/pdfvie wer/pdfviewer?sid=120edb8d-d9c6-43b3-bb0b-9e78 3cacce8b%40sessionmgr198&vid=1&hid=109 Malm, E et al. (2008). Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome. Retrieved from http://archopht.jamanetwork.com/article.aspx?articleid=4 20223  NORD. (2015). Alstom Syndrom. Retrieved from https://rarediseases.org/rare-diseases/alstrom-syndrome/