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 premutation.

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

Fragile X Support - Family Village

Yahoo! Groups: Fragile X


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.)

2.    The tics occur many times a day (usually in bouts) nearly every day or intermittently throughout a period of more than 1 year, and during this period there was never a tic-free period of more than 3 consecutive months.

3.    The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning.

4.    The onset is before age 18 years.

5.    The disturbance is not due to the direct physiological effects of a substance (e.g., stimulants) or a general medical condition (e.g., Huntington's disease or postviral encephalitis).

Tourette Syndrome On-Line has compiled over 150 links to other websites containing information on Tourette Syndrome.

Tourette Syndrome Plus

DSM-IV Criteria for Tourette's Syndrome

Yahoo! Groups: Tourette

Yahoo! Groups: TS Parents

Co-morbid Conditions and Autism: Seizures, Tourette Syndrome and ADHD


Symptoms of autism in Down syndrome
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.

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.

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.

Some key behaviors that may point to the possibility of autism in a child with Down syndrome are:

  1. Extreme Autistic Aloneness - The child does not relate to people normally and seems to prefer to be left alone. The child seems to consider other persons as objects, not people. He will not join in group play with other children. Unlike children with Down syndrome, who are very lovable and huggable, the autistic child does not want to be held.
  2. Anxiously obsessive desire for the preservation of sameness - Any differences in daily routines can cause a large upset.
  3. Lack of eye contact - Autistic persons typically do not make eye contact but will look away or "right through" other people.
  4. Shows repetitive, "Stereotypical" movement, like sitting for long periods of time with an object in his hand and just waving it back and forth looking at it.
A checklist of autistic behaviors is presented in Figure 1. Some of these characteristics are normal, up to a point, in a child with Down syndrome. This complicates the diagnosis of autism in those children. In the next section, the DSM-IV criteria for diagnosing autism is presented with annotations as to whether each behavior is more prevalent in autism than in Down syndrome. Read more in "Diagnosis of Autism in Children with Down Syndrome".

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.

Down Syndrome and Autism (PDF Newsletter)

Diagnosis Down Syndrome

Yahoo! Groups: DS Autism

Down Syndrome / Autism Dual Diagnosis

Diagnosis of Autism in Children with Down Syndrome by Glenn Vatter



Hyperlexia is a syndrome with the following three main characteristics:

  1. Early precocious reading and/or intense fascination with letters and numbers.
  2. Delays in verbal language.
  3. Social skills deficits.

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


Childhood Apraxia of Speech is a neurologically-based motor planning speech disorder that affects a very small number of children.  Children with apraxia have extreme difficulty translating their thoughts into the correct sequence of movements of their mouth, tongue, and lips.  A child with apraxia of speech can have speech that is very limited and unclear, making it difficult for others to understand the child, even their own families.  Childhood Apraxia of Speech is not something that the child will outgrow on their own.  With proper, early speech therapy provided by a trained speech-language pathologist, many children with apraxia of speech are capable of learning to speak clearly and communicate effectively.  However, without the necessary and appropriate therapy, children with apraxia may never speak clearly and experience a lifetime of frustration.
Children with apraxia of speech have a long, difficult road ahead of them as they struggle mightily to achieve what other children do with little effort.  In their journey to become effective communicators, adults can lighten their load through increased awareness and understanding of this perplexing speech disorder.
Some symptoms that may indicate Childhood Apraxia of Speech include:
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

Children who have these symptoms should receive a comprehensive evaluation by a licensed speech-language pathologist.
Canadian Association for Children with Oral Motor Speech Disorders
Egroups: Apraxia Ontario
Apraxia Guide to helpful links and resources
PROMPT Institute
Late Talkers vs. Apraxia
Difference between apraxia and autism from Wisconsin Early Autism Project, Inc.
Ontario Resources


38: July 24, 2002

Please note: BBB Autism Support Network is not responsible for information found on the websites we link to.