Fragile X Syndrome by Laura Galati https://padlet.com/galatlau/fragile_x_syndrome A Genetic Disorder en-us 2019-02-27 01:24:18 UTC 2023-07-26 16:36:31 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Hearts.png What is Fragile X Syndrome? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335718077 Fragile X syndrome is a sex-linked genetic condition. It can cause intellectual disability; some common symptoms include large ears and forehead as well as a prominent jaw.]]> 2019-02-27 02:08:14 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335718077 How common is Fragile X syndrome? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335718932 Fragile X Syndrome affects 1 in 4000 males and 1 in 6000 females. However, approximately 1 in 259 women are carriers and could potentially pass it on to their children.]]> 2019-02-27 02:12:40 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335718932 Does it affect certain ethnic, socio-economic or geographical groups more than the general population? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335719047 This syndrome equally affects people from all ethnic and racial groups, as well as socio-economic backgrounds and geographical locations. This has been back up by worldwide data collection and testing. As it is sex-linked, it occurs more often in males and with greater severity than it does in females.]]> 2019-02-27 02:13:20 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335719047 What other ways can Fragile X syndrome affect individuals? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335719363 FXS is also associated with social anxiety, poor eye contact and social withdrawal. This is particularly prevalent in males with 50% experiencing panic attacks.

Fragile X associated tremor/ataxia syndrome can also develop in some individuals with FXS. It usually occurs around the age of 50, and worsens with age. It affects movement and cognition.]]> 2019-02-27 02:15:11 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335719363 What is the cause of Fragile X syndrome? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335719579 Fragile X syndrome is caused bu the FMR1 gene on the X chromosome expanding or becoming longer.

This switches off the production of a protein that is involved in brain development.]]> 2019-02-27 02:16:12 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335719579 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335719929 This is a depiction of the stereotypical facial features of a child with Fragile X Syndrome.]]> 2019-02-27 02:17:52 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335719929 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335720114 This image explains why the syndrome is known as "Fragile" X syndrome.]]> 2019-02-27 02:18:57 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335720114 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335720155 This is a child who has Fragile X syndrome. His protruding ears and long facial features are very common in individuals with the condition.]]> 2019-02-27 02:19:10 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335720155 What age does it develop? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335728287 Fragile X syndrome is present from birth. Individuals with FXS generally have delayed speech and language that becomes obvious by the age of two. As they may not meet the regular developmental milestones, that may be when the disorder is identified (if it has not been identified at birth due to their distinctive face structure).

After puberty, males will also develop enlarge testicles. Around the age of 50, FXTAS (tremors and ataxia) may also develop.]]> 2019-02-27 03:03:00 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335728287 What are some physical symptoms of FXS? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335728318 Some physical symptoms can include flat feet, soft skin, low muscle tone (hypotonia) and double jointed fingers and thumbs.

15% of males and 5% of females will experience seizures.]]> 2019-02-27 03:03:13 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335728318 How does the intellectual disability manifest in people with Fragile X syndrome? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335728354 Fragile X is also associated with intellectual disability. In males this is can considerably affect their IQ. Most females will have normal IQ levels but may have additional learning needs. ADHD is fairly common in individuals with the condition.

It can also cause autism. In fact, it is "the most common single gene cause of autism worldwide." (The Fragile X Association of Australia) ]]> 2019-02-27 03:03:28 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335728354 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335741886 This is a karyotype of someone who has Fragile X syndrome.]]> 2019-02-27 04:12:53 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335741886 How is Fragile X syndrome inherited? galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335775631 Fragile X syndrome is inherited; it is a X-linked dominant condition. That means that one copy of the allele on the X-chromosome is enough for a child to inherit the disorder.

This also means that affected men cannot pass the condition on to their daughters.]]> 2019-02-27 07:58:22 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335775631 Life Expectancy of Someone with FXS galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335776480 Individuals with Fragile X syndrome have a completely normal life expectancy.]]> 2019-02-27 08:01:51 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335776480 Treatment for Individuals with Fragile X Syndrome galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335776856 There is no cure for Fragile X syndrome however there are many therapies that can be used to support those living with this condition.

These include special education, medication to manage behavioural issues as well as early intervention.

Other symptoms of this condition such as vision and hearing issues, joint and ligament problems, seizures and heart problems are also treated as each individual requires.

Genetic testing is available for this disorder will be given prenatally if the mother is a known carrier to determine if their baby will have Fragile X syndrome.]]> 2019-02-27 08:03:19 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335776856 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335777939 This is an image of a young boy with Fragile X Syndrome who's features match the stereotypical symptoms.]]> 2019-02-27 08:07:41 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335777939 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335778445 This image shows two brothers with FXS. Even in families, this disorder can manifest itself in different ways. The boy on the left has an elongated face whereas his brother on the right has protruding ears.]]> 2019-02-27 08:09:45 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335778445 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335779102 This is an image of a teenage girl with Fragile X syndrome. The symptoms and key features of this disorder are usually less prominent in females.]]> 2019-02-27 08:12:26 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335779102 galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335779675 This is a young boy with Fragile X syndrome and down syndrome. In some individuals both genetic conditions can occur simultaneously.]]> 2019-02-27 08:14:35 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335779675 Bibliography galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335781303 “Fragile X Syndrome - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/fragile-x-syndrome.

“Fragile X Syndrome.” Wikipedia, Wikimedia Foundation, 22 Feb. 2019, en.wikipedia.org/wiki/Fragile_X_syndrome.

“Learning About Fragile X Syndrome.” National Human Genome Research Institute (NHGRI), www.genome.gov/19518828/learning-about-fragile-x-syndrome/.

“What Causes Fragile X Syndrome? A Single Gene Shuts down.” Fragile X Research - FRAXA Research Foundation, www.fraxa.org/fragile-x-syndrome/cause/.

“What Is Fragile X Syndrome?” Fragile X Association of Australia, fragilex.org.au/what-is-fragile-x/.

Rattazzi, M C, et al. “Prospects for Gene Therapy in the Fragile X Syndrome.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/pubmed/14994292.

]]> 2019-02-27 08:21:51 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335781303 Possibility of Gene Therapy galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335782023 Some scientists speculate that in the future gene therapies that could potentially cure Fragile X syndrome and other genetic conditions. However, as of yet, none of these have been developed or tested.]]> 2019-02-27 08:24:45 UTC https://padlet.com/galatlau/fragile_x_syndrome/wish/335782023 Similar Disorders galatlau https://padlet.com/galatlau/fragile_x_syndrome/wish/335787251 ANGELMAN
Angelman syndrome is another genetic disorder that shares some if it's symptoms with Fragile X. It can also lead to delayed development, seizures (epilepsy), intellectual disability, delayed speech and ataxia and balance problems.

The largest difference in the phenotypic presentation of these two syndromes is the head shape of individuals effected. Individuals with FXS have large, elongated heads whilst Angelman syndrome often presents with a small head.

MEGALENCEPHALY

Megalencephaly is a disorder which involves an enlarged brain that can cause mild to profound intellectual disability. Similarly to FXS is can cause low muscle tone, autism, seizures, developmental delays and vision problems.

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