Rett Syndrome by Effie Chen

Random changes in MECP2 gene

tntran131 — 2024-10-15 15:39:57 UTC

Results in insufficient protein production for proper brain development

Stunted intelligence

tntran131 — 2024-10-15 15:44:24 UTC

Due to stunted brain growth after birth, it is common for children with Rett’s Syndrome to lack the ability to think, understand, or learn. This can sometimes be seen physically, as children with Rett’s syndrome might have a smaller head than normal people.

Emotional distress

tntran131 — 2024-10-15 15:46:43 UTC

These children may become increasingly agitated or distressed very randomly. They often feel the emotion of fear but cannot express it, and periods of crying that begin randomly might go on for hours

Organ/Internal Problems

tntran131 — 2024-10-15 15:48:39 UTC

Breathing problems - These include breath-holding, rapid breathing (hyperventilation), forcefully blowing out air or saliva, and swallowing air.
Irregular heartbeat - irregular heartbeat due to the lack of development of the heart is a huge problem and may cause sudden death
Seizures - people with Retts syndrome can occasionally experience seizures due to a chenge in electroencephalogram

Medication

echen101_1 — 2024-10-15 15:51:44 UTC

Medication can ease and control symptoms (seizures, muscle stiffness, and breathing problems)

Loss of basic motor skills/Developmental Regression

tntran131 — 2024-10-15 15:51:46 UTC

Unusual hand movements - repetitive hand movements are usually seen in these children and differ from child to child

Unusual eye movements - These include intense blinking, staring, cross-eyed or closing one eye

Loss of communication abilities - Children with this syndrome often lose the ability to speak, make eye contact, and communicate in other ways. The effects of this might be children losing their language.

Nutritional Support

echen101_1 — 2024-10-15 15:53:32 UTC

Junk food can worsen symptoms, so eating a proper healthy diet may help reduce symptoms. Feeding strategies may need to be implemented to prevent choking or vomiting

Sources (websites)

tntran131 — 2024-10-15 15:53:47 UTC

“A rare genetic neurological and developmental disorder-Rett syndrome - Symptoms & causes.” Mayo Clinic, https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227. Accessed 16 October 2024.

“Rett Syndrome | National Institute of Neurological Disorders and Stroke.” National Institute of Neurological Disorders and Stroke, 19 July 2024, https://www.ninds.nih.gov/health-information/disorders/rett-syndrome. Accessed 16 October 2024.

“What are the types & phases of Rett syndrome?” National Institute of Child Health and Human Development, 18 January 2022, https://www.nichd.nih.gov/health/topics/rett/conditioninfo/types. Accessed 16 October 2024.

“Rett Syndrome: What Is It, Causes, Symptoms & Treatment.” Cleveland Clinic, 6 May 2021, my.clevelandclinic.org/health/diseases/6089-rett-syndrome. Accessed October 16, 2024

https://rarediseases.org/rare-diseases/rett-syndrome

“Rett syndrome.” NHS, https://www.nhs.uk/conditions/rett-syndrome/. Accessed 16 October 2024.

“Rett syndrome.” Better Health Channel, https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rett-syndrome. Accessed 16 October 2024.

“Rett syndrome.” NHS, https://www.nhs.uk/conditions/rett-syndrome/. Accessed 16 October 2024.

Citation for images- https://www.google.com/url?sa=i&url=https%3A%2F%2Fwww.shutterstock.com%2Fimage-photo%2Fcitation-336276443&psig=AOvVaw0-l197CHcXunQ2N80CtN-g&ust=1729094001943000&source=images&cd=vfe&opi=89978449&ved=0CBcQjhxqFwoTCKiHv8ffkIkDFQAAAAAdAAAAABAE

Naidu, S., et al. “Neuroimaging Studies in Rett Syndrome.” Brain and Development, vol. 23, 1 Dec. 2001, pp. S62–S71, www.sciencedirect.com/science/article/pii/S0387760401003813, https://doi.org/10.1016/S0387-7604(01)00381-3.

“PatEdu.com : Rett Syndrome.” PatEdu.com X-Plain Lite, 2024, www.patedu.com/englisha/interactive/rett-syndrome/section2_page9. Accessed 16 Oct. 2024.

“Redirect Notice.” Google.com, 2024, www.google.com/url?sa=i&url=https%3A%2F%2Fwww.researchgate.net%2Ffigure%2FRett-syndrome-genetic-Reproduced-from-http-genetics4medicscom_fig5_325083584&psig=AOvVaw0-LNJBfWkDF1uBQ_4ualJa&ust=1729093237680000&source=images&cd=vfe&opi=89978449&ved=0CBcQjhxqFwoTCOD_zLPckIkDFQAAAAAdAAAAABAY. Accessed 16 Oct. 2024.

Special Education

echen101_1 — 2024-10-15 15:54:28 UTC

Individual one-on-one teaching may need to be implemented, as the child needs patience and lots of encouragement to catch up to other children academically

Stage 1-Early Onset, Between months 6-18

echen101_1 — 2024-10-16 15:44:48 UTC

Development for the child slows down, and the typical developmental milestones may be met either slower than normal or unmet. Hypotonia can be detected within the child's skin and might have unusual repetitive or jerky hand movements. Often lasts several months but sometimes a year.

Stage 3-Plateau Stage, between years 2-10

tntran131 — 2024-10-16 15:48:25 UTC

Lasts many years for some people, they may still lose their motor skills and may even start to have seizures. However, their condition is starting to improve at this stage as they become more interested in their surroundings with an improvement in communication and motor skills.

Stage 2-Rapid Destructive/Regression phase, Between years 1-4

echen101_1 — 2024-10-16 15:48:30 UTC

The loss of previously acquired skills results in a regression of the child, such as losing basic motor functions, walking, communication skills, and speech. Problem development is either gradual or sudden, including loss of motor functions, social withdrawal, sleeping problems, periods of distress, slowed head growth, and abnormal heart rate.

Stage 4- Late motor deterioration stage, occurs at ages 5 to 25

echen101_1 — 2024-10-16 15:52:35 UTC

This stage may last for decades. They might lose their ability to walk, contract scoliosis, and muscle weakness, and may even have uncontrollable muscle contractions. Understanding, communication, and eyesight might improve during this stage.

Sources (Images)

echen101_1 — 2024-10-16 16:11:01 UTC

“PatEdu.com : Rett Syndrome.” PatEdu.com X-Plain Lite, 2024, www.patedu.com/englisha/interactive/rett-syndrome/section2_page9. Accessed 16 Oct. 2024.

“Citation Stock Photo 336276443 | Shutterstock.” Shutterstock, 2015, www.shutterstock.com/image-photo/citation-336276443. Accessed 16 Oct. 2024.