What is Fragile X Syndrome?
Fragile X syndrome is a hereditary condition which causes a wide range of mental impairment, from mild learning disabilities to severe mental retardation. It is the most common cause of genetically-inherited mental impairment. In addition to mental impairment, fragile X syndrome is associated with a number of physical and behavioral characteristics.
There are several tests that can be done to determine if someone has fragile X syndrome and if family members have the potential to transmit the gene for fragile X syndrome.
Families, caregivers and medical personnel have found a variety of interventions that are helpful in treating some of the problems associated with fragile X syndrome.
The biological cause of fragile X and the pattern of transmission of the disease are complex. Nevertheless, because of recent research, we are beginning to understand the causes and inheritance of this disease.
Laws passed in recent years provide enhanced educational opportunities for persons with fragile X syndrome.
Because the impact of fragile X syndrome is long-term, planning to address financial and legal issues is critical.
What is Fragile X syndrome? Fragile X syndrome is the most common inherited cause of mental impairment, affecting approximately 1 in 2,000 males and 1 in
4,000 females worldwide. It is estimated that 1 in 259 females and 1 in 755 males are carriers of the
It is second only to Down syndrome as a cause of mental retardation. Both males and females may be affected by a wide variety of symptoms.
This article (written by Stephen Edelson, Ph.D.) explains the autism/fragile x connection.
For more information on Fragile X, visit the National Fragile X Foundation.
National Institute of Child Health and Human Development ~ Fragile X Table of Contents
DSM-IV Criteria:1. Both multiple motor and one or more vocal tics have been present at some time during the illness, although not necessarily concurrently. (A tic is a sudden, rapid, recurrent, non-rhythmic, stereotyped motor movement or vocalization.)
Tourette Syndrome On-Line has compiled over 150 links to other websites containing information on Tourette Syndrome.
Symptoms of autism in
The key area affected developmentally in a child with Down syndrome is the cognitive area, the development of thinking, reasoning, and understanding. Delays are expected in this area. Another area of development is the social and emotional development. These areas develop more normally in a child with Down syndrome but not in a child with autism. Coleman and Rogers (1992) give the following account of the expected social and emotional development in a child with Down syndrome.
Most babies with Down syndrome show the least delay in social and emotional development, smiling when talked to at 2 months (range 1.5-4 months), smiling spontaneously at 3 months (range 2-6 months, and recognizing parents at 3.5 months (range 3-6 months); each of these milestones show only a 1-month delay on average. Although some studies suggest that the intensity of affective responses such as smiling and laughing may be slightly less than that shown by ordinary babies, parents respond warmly to the onset of smiling and eye contact. The Down syndrome babies begin to enjoy pat-a-cake and peek-a-boo games at about 11 months (range 9-16 months), which is about 3 months later than ordinary babies. Studies in the second year of life show the babies to be skilled in social communication even using social skills to attempt to distract an adult from a task the baby does not want to attempt. The babies are warm, cuddly, and normally responsive to physical contact, unlike babies with some other types of disabilities such as autism.So the key areas to watch for in a child with Down syndrome suspected of having a complicating behavior disorder such as autism is in the social and emotional areas. Some professionals will argue that social and emotional development can be expected to be affected by delays in cognitive development and it is not evidence of a separate disorder. This is where the subjective nature of autism diagnosis comes in. It's a matter of degree.
This normal emotional responsiveness continues into adult life, and as studies of teenagers have shown, it develops into proper empathy, making the person with Down syndrome a sensitive and socially aware person to live with.
Some key behaviors that may point to the possibility of autism in a child with Down syndrome are:
Take a look at "Autism and Down Syndrome" , presented by Dixie Aguiar. Ms Aguiar offers a very helpful "red light warnings" piece. "The Riverbend Down Syndrome Support Group" website can offer further information on this topic.
Diagnosis of Autism in Children with Down Syndrome by Glenn Vatter
Hyperlexia is a syndrome with the following three main characteristics:
Hyperlexia's place on or outside of the autistic spectrum is a matter of much debate. Be that as it may, Hyperlexia is a trait commonly seen in autistic spectrum disorders. Individuals that have autism and Hyperlexia have a unique learning style and a better prognosis than those without this reading skill. Hyperlexia is often written off as a "meaningless splinter skill" but it is much more than that even if comprehension lags because reading can be a very useful tool for learning other skills and can be the doorway to language in general.
The American Hyperlexia Association presents a good article called "Peaceful Co-existence: Autism, Asperger's and Hyperlexia" .
American Hyperlexia Association
Links to Other Resources
Also, check out the article "What is Hyperlexia?". On the same page, you will find links to information on Semantic Pragmatic Disorder. Canadian visitors, please check out the Canadian Hyperlexia Association.
|Hyperlexia and Language Disorders|
|The Syndrome of Hyperlexia vs. High Functioning Autism and Asperger's Syndrome|
|The Hyperlexia Parents' Network|
|Yahoo! Groups: Hyperlex|
|The Hyperlexia Discussion Group|
|Little or no babbling as an infant|
|Difficulty imitating sounds/words|
|Very few consonant sounds|
|Possibly limited vowel sounds as well|
|Showing signs of frustration with inability to communicate|
|Late onset of first words|
|Uses grunts, gestures and other non-verbal forms of communication|
|Leaves out sounds or substitutes incorrect sounds in words|
|Often inconsistent or unpredictable speech errors|
|Severely unclear speech or speech attempts|
|May show groping with their mouth when attempting to speak|
|Makes slow or no progress with traditional speech therapy|
|Canadian Association for Children with Oral Motor Speech Disorders|
|Egroups: Apraxia Ontario|
|Apraxia Guide to helpful links and resources|
|Late Talkers vs. Apraxia|
|Difference between apraxia and autism from Wisconsin Early Autism Project, Inc.|
38: July 24, 2002
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