13/06/2012. Fragile X Syndrome. The most common hereditary disorder. Prevalence is 1 in men and 8000 women

Transcription

1 Fragile X Syndrome The most common hereditary disorder linked to learning disability Prevalence is 1 in men and 8000 women 1

2 How is Fragile X inherited? Each cell in the body contains forty six (twenty three pairs of) chromosomes. These chromosomes consist of genetic material il (DNA) necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics. The first twenty two pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether a person is male or female. Males have only one X chromosome which is inherited from the mother. They receive a Y chromosome from the father. Females inherit two X chromosomes, one from each parent. 2

3 Primary Diagnosis: Fragile X is caused by a break of the X chromosome at a specific place which is known to be vulnerable to breaking This affects the protein structure or building blocks of the physical body 3

4 Physical features: Physical features are usually hard to recognize in bbi babies and young children, but sometimes become more apparent with age. long face, large ears, flat feet hyperextensible joints, especially fingers low muscle tone Symptoms intellectual disabilities, ranging from mild learning disabilities to mental retardation attention dfii deficit and hyperactivity, i particularly l in young children anxiety and unstable mood autistic behaviors: About 30% of boys with fragile X meet full criteria for autism. Most boys and some girls have some symptoms of autism, but many tend to be very social and interested in other people. sensory integration problems, such as hypersensitivity to loud noises or bright lights speech delay, with expressive language more severely affected than receptive language. seizures (epilepsy) affect about 25% of people with Fragile X 4

5 Characteristics of the hyper-sensitive constitution - Fragile X Very sociable but stays on the periphery Extremely observant Constant talk and commentary - Watching the world go by Hides behind a smoke-screen of words Can be bashful and shy Don t respond well to a direct approach Sweating Bedwetting? Limited gross and fine motor skills High Pain Threshold Very sensitive to tension and stress Overwhelmed by the injustices of the world Intellectually limited Good self help skills 5

6 Some Insights regarding Fragile X Syndrome Arising from these observations it appears as if Physical/etheric body is porous or that they are missing a protective skin. They seem to feel exposed and sore all over They are lacking in boundaries and their inner being seems to be pouring out. Peripheral awareness of themselves causes shame and embarrassment which they hide behind a smoke-screen of words High Pain threshold seems to indicate that they have a poor sense of their own body Feeling life and sense of Self not fully engaged Inflammation Anabolic pushing outwards Fluid/watery/warm Health Sclerosis Catabolic turning inwards hardening/cold Willing Metabolic System Feeling Rhythmic System Thinking Nerve/Sense System Excarnating Incarnating 6

7 Health or absence of dis-ease is dependent on the balance between the anabolic and the catabolic processes in our body. Hot Cold Oversensitive Constitution - Hyper-aware of others Does not want to be recognised We are all somewhere on this continuum either tending towards the more cerebral or the all-out-there pole Under-sensitive Epileptic Constitution Hyper-aware of self Needs constant recognition Characteristics of the female hypersensitive Constitution Hyper-sensitive to pain hypochondriac Always complaining about something or other Hyper aware of personal space Can get under your skin Over-conscious of and over-concerned with the world around them 7