Fragile X Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

by Kenneth Kee

Overview

This book describes Fragile X Syndrome, Diagnosis and Treatment and Related Diseases
Fragile X syndrome (FXS) is a genetic disorder, the second most frequent cause of genetically linked mental deficiencies, after trisomy 21.
A genetic disorder indicates that there are alterations to the person’s genes.
Fragile X syndrome (also termed Martin-Bell syndrome or Marker X syndrome) is the most frequent cause of inherited mental retardation, intellectual disability and autism.
The conservative estimates are that fragile X syndrome involves about 1 in 2500-4000 males and 1 in 7000-8000 females.
The incidence of female carrier status has been evaluated to be as high as 1 in 130-250 population.
The incidence of male carrier status is evaluated to be 1 in 250-800 population
FXS is caused by alterations in the fragile X mental retardation 1 (FMR1) gene.
The FMR1 gene normally makes a protein termed fragile X mental retardation protein (FMRP).
FMRP is required for normal brain development.
People who have FXS do not produce this protein.
People who have other fragile X-linked disorders have alterations in their FMR1 gene but normally produce some of the protein.
FXS involves both males and females.
The females often have milder symptoms than males.
The precise number of people who have FXS is not known but it has been evaluated that about 1.4 per 10,000 males and 0.9 per 10,000 females have FXS.
The gene for Fragile X is present on the X chromosome.
Since both males (XY) and females (XX) have at least one X chromosome, both can transmit the mutated gene to their children.
A father with the altered gene for Fragile X on his X chromosome will transmit that gene on only to his daughters.
To his sons he will pass on a Y chromosome, which does not transmit Fragile X syndrome.
A father with the altered gene on his X chromosome and a mother with normal X chromosomes can have daughters with the altered gene for FXS while their sons would not have the mutated gene.
A father can transmit the pre-mutation form of the FMR1 gene to his daughters but not the full mutation.
Even if the father himself has a full mutation of this gene, it seems that sperm can transmit only the pre-mutation.
Mothers transmit only X chromosomes to their children, so if a mother has the altered gene for Fragile X, she can transmit that gene to either her sons or her daughters.
If a mother has the mutated gene on one X chromosome and has one normal X chromosome, and the father has no mutations, all the children have a 50-50 possibility of inheriting the mutated gene.
These 50-50 possibility apply for each child the parents have.
Having one child with the FMR1 mutation does not raise or reduce the possibilities of having another child with the mutated FMR1 gene.
This also applies to the severity of the symptoms.
Having one child with mild symptoms does not indicate that the other children will have severe symptoms, and having a child with severe symptoms does not indicate that the other children will have mild symptoms.
Symptoms
Signs that a child might have FXS are:
1. Developmental delays (not sitting, walking, or talking at the same time as other children the same age);
2. Learning disabilities (trouble learning new skills); and
3. Social and behavior disorders
Patients with fragile X syndrome manifest with problems in these:
1. Developmental
2. Cognitive
3. Neuropsychological
4. Musculoskeletal
5. Feeding
6. Toilet training
7. Sleep
8. Recurrent medical disorders
Fragile X syndrome can be diagnosed by testing a person’s DNA with a blood test.
There is no cure for FXS
Treatment services can be therapy to learn to talk, walk, and interact with others and medicine to regulate symptoms.

TABLE OF CONTENT
Introduction
Chapter 1 Fragile X Syndrome
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Down’s Syndrome
Chapter 8 G6PD Deficiency
Epilogue

Product Details

BN ID:	2940163368792
Publisher:	Kenneth Kee
Publication date:	10/19/2019
Sold by:	Smashwords
Format:	eBook
File size:	130 KB

About the Author

Medical doctor since 1972. Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009. Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993. Dr Kenneth Kee is still working as a family doctor at the age of 70. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com. His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com This autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com. From which many free articles from the blog was taken and put together into 1000 eBooks. He apologized for typos and spelling mistakes in his earlier books. He will endeavor to improve the writing in futures. Some people have complained that the simple guides are too simple. For their information they are made simple in order to educate the patients. The later books go into more details of medical disorders. He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter. The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks. He does not do any night duty since 2000 ever since Dr Tan had his second stroke. His clinic is now relocated to the Buona Vista Community Centre. The 2 units of his original clinic are being demolished to make way for a new Shopping Mall. He is now doing some blogging and internet surfing (bulletin boards since the 1980's) starting with the Apple computer and going to PC. The entire PC is upgraded by himself from XT to the present Pentium duo core. The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive. He is also into DIY changing his own toilet cistern and other electric appliance. His hunger for knowledge has not abated and he is a lifelong learner. The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned. This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale. Dr Kee is the author of: "A Family Doctor's Tale" "Life Lessons Learned From The Study And Practice Of Medicine" "Case Notes From A Family Doctor"