Autism-World

Direct detection involves Southern blot analysis to identify the origin of mutation by detecting differences in methylation within the AS critical region using the methylation sensitive SNRPN probe.
A paternal-only pattern is diagnostic for AS. For methylation positive AS cases, additional analyses including FISH and UPD studies may be considered to determine the mutational mechanism for [...]

Edwin Weeber, Ph.D., and colleagues reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome.
The results, which appear in the March issue of Nature Neuroscience (currently available online), reveal an important part of the mechanism underlying the [...]

While pregnant with Paige (our 3rd child), toward the end of the pregnancy we noticed I had stopped growing. Stress tests and ultrasounds all were normal, so the doctor decided to induce me just 2 days early because of her poor growth in utero.
During the birth, I had a placenta abruption, and Paige had to [...]

Most individuals with WS master self help skills and complete academic and/or vocational schools. They are employed in many types of settings and while many individuals with WS live with their parents, some are able to live in supervised housing or on their own.
The pleasure found in talking is considerably less as the individual reaches [...]

Blood vessel narrowing can cause heart failure.

Abdominal pain is common for a variety of reasons.

Elevated calcium can lead to calcium deposits in the kidney and other kidney problems.

There have been rare cases of children with Williams syndrome having complications, including death, with anesthesia.

Technorati : williams syndrome

* WS* WBS* WMS* Beuren syndrome* Elfin Facies Syndrome* Infantile hypercalcemia* Williams-Beuren Syndrome* Elfin facies with hypercalcemia* Supravalvar aortic stenosis syndrome* Hypercalcemia-Supravalvar Aortic Stenosis

Williams syndrome is a chromosomal condition related to chromosome 7.
The CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes are associated with Williams syndrome.
Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of [...]

Williams syndrome is a genetic condition that is a cause of mental retardation. It is a relative newcomer on the causes-of-retardation scene, as it was not identified as a distinct condition until 1961. The cause of the disorder is a mutation of chromosome 7; a fragment of chromosome 7 is missing in the individual’s genetic [...]

The first descriptions of WS were incomplete in that they reflected the chief complaint of the individual or the medical specialty of the observer. Thus, nephrologists and endocrinologists described “idiopathic infantile hypercalcemia” (IHC) and cardiologists reported “supravalvular aortic stenosis syndrome” (SASS).
Early reports also noted dysmorphic facial features which were thought to resemble elves of legend, [...]

Infancy. The infant with WS is often born post-term, and is small for the family background. Feeding difficulties leading to failure to thrive are common, including gastro-esophageal (G-E) reflux, disordered suck and swallow, textural aversion, and vomiting. Prolonged colic (>4 months) may be related to G-E reflux, chronic constipation, and/or idiopathic hypercalcemia, which occurs in [...]

There is no cure for Williams syndrome. Supplemental calcium and vitamin D should be avoided. It is important to treat high levels of blood calcium if present. The blood vessel narrowing can be a significant health problem and is treated based on severity.
Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy [...]

The school system is not always geared to deal with the special needs and apply the special modalities required in the management of an autistic child or children with PDD NOS. That includes lack of specific experience, the unavailability of ABA or proper behavioral modification programs.
In many circumstances, children with PDD are placed with a [...]

All of the following:

apparently normal prenatal and perinatal development
apparently normal psychomotor development through the first five months after birth
normal head circumference at birth

Onset of all of the following after the period of normal development:

deceleration of head growth between ages 5 and 48 months
loss of previously acquired purposeful hand skills between ages 5 and 30 months [...]

Qualitative impairment in social interaction, as manifested by at least two of the following:

marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
failure to develop peer relationships appropriate to developmental level
a lack of spontaneous seeking to share enjoyment, interests, or achievements with [...]

Georgetown University Medical Center researchers today published the first ever fMRI study of hyperlexia, a rare condition in which children with some degree of autism display extremely precocious reading skills.Appearing in Neuron, the case study uncovers the neural mechanisms that underlie hyperlexia, and suggest that hyperlexia is the true opposite of the reading disability dyslexia.Hyperlexia [...]

There are two different types of hyperlexia; language disorder and visual spatial motor disorder. Children in the language learning disorder group had more phonic errors and difficulty in the use of language pragmatically. They also had a lower verbal IQ and a higher performance IQ. In the visual spatial motor type, children had very few [...]

The most important characteristic that distinguishes a hyperlexic child from a normal child developmentally is that their auditory pathways in the brain are extremely poor, resulting in seriously compromised verbal communication (Ray).
They rely more on their visual pathways in the brain. The child’s reading skills should be used as a primary means of developing language. [...]

A disorder with seizures starting in childhood in which the patient loses skills, such as speech, and develops behavior characteristic of autism.A major feature of the Landau-Kleffner syndrome (LKS) is the gradual or sudden loss of the ability to understand and use spoken language. All children with LKS have abnormal electrical brain waves that can [...]

Fragile X syndrome is the most common form of inherited mental retardation, occurring in 1 in 3,600 males and 1 in 4,000 to 6,000 females.
The researchers, led by Huibert Mansvelder, published their findings in the May 24, 2007 issue of the journal Neuron, published by Cell Press.
To understand the details of the neuronal pathology of [...]

The two most prevalent forms of genetic mental retardation, Fragile X and Down syndromes, may share a common cause, according to researchers at Stanford University School of Medicine. The problem, a crippled communication network in the brain, may also be associated with autism.Although the genetics of the disorders are very different, the end result for [...]

A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome (FXS), the most common inherited form of mental retardation, reports a study in the April issue of Genetics in Medicine, published by the American College of Medical Genetics and Lippincott Williams & Wilkins, a part of [...]

In the 80s, a research group at the Leioa campus of the University of the Basque Country worked on dermatoglyphs, an analysis technique applied to autistic children. Dermatoglyphs, or handprints and footprints, are useful in the morphological analysis of the symmetry of the human body.That initial study of dermatoglyphs enabled the fluctuating asymmetry between the [...]

Fragile X syndrome is the most common form of inherited mental retardation, occurring in 1 in 3600 males and 1 in 4000 to 6000 females.The researchers, led by Huibert Mansvelder, published their findings in the May 24, 2007 issue of the journal Neuron, published by Cell Press.To understand the details of the neuronal pathology of [...]

Researchers in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine have identified a new regulatory target for the Fragile X mental retardation protein (FMRP), laying the groundwork for possible new treatments for Fragile X syndrome(FXS), the leading inherited form of mental retardation.
The findings, published in the early online edition [...]

CHINTSYE:Can anyone tell me about hyperlexia and also how it relates to autism. No copy paste stuff please…just any knowledge you may have. I have a 2 year old son with Autism who has started to point to letters and numbers and say what they are clearly.
smartde:I am a Speech/Language Pathologist with 34 years of [...]

Make sure the program deals with all aspects of autism.
Make sure the people offering the program are professionally qualified.
Seek advice from your doctor, autism professionals and autism organisations.
Only choose management programs that are based on sound, scientific principles.
It might be best to avoid experimental programs. Consult with your doctor or autism professionals for guidance.
Be wary [...]

Careers to avoid – suggestionsCareers that rely on short term memory should be avoided. Examples include:

Cashier
Waitress
Receptionist.
Taxi dispatcher
Air traffic controller
Short order cook

Suggestions for visual thinkers:

Mechanic
Drafting
Building trades.
Commercial art
Photography
Equipment design
Appliance repair
Handcraft artisan
Webpage designer
Video game designer
Building maintenance
Computer programming

Career suggestions for those good at mathematics or music:

Accounting
Engineering
Taxi driver
Statistician
Physician
Bank teller
Telemarketing.
Mathematician
Filing positions
Journalist, copy editor
Computer programming
Piano (or other musical instrument) tuner

Some of the common characteristics of Adult with Asperger syndrome include:

Hampered conversational ability
Inability to think in abstract ways
Difficulties in empathising with others
Average or above average intelligence
Specialised fields of interest or hobbies.
Inability to manage appropriate social conduct
Problems with understanding another person’s point of view
Problems with controlling feelings such as anger, depression and anxiety
Adherence to routines and [...]

There is no cure of Angelman syndrome,but the child can benefit from treatment including :

Speech therapy
Physical therapy
Special education
Social skills training
Occupational therapy
Behaviour modification
Communication therapy
Anti-epileptic medication.

There are something that parents can do for children with Angelman syndrome:

Respite care.
Family therapy.
Genetic counselling.
Support organisations, such as the Australian Angelman Syndrome Association.

1.Characteristic symptoms of Angelman syndrome

Hand flapping.
Speech problems.
Hyperactive behaviour.
Stiff-legged walking style.
Jerky, puppet-type movements.
A child easily moved to laughter.
Loving, happy and social demeanour.
Delayed motor development, such as delay in sitting, crawling and walking.
Intellectual disability. A child with Angelman syndrome will have delayed development in all areas, and disability is severe in most cases.

2.Symptoms that are sometimes present [...]