Genetic discovery could increase understanding of ADHD

Scientists at Trinity College Dublin have discovered that a mutation in a single gene involved in the functioning of the brain's nervous system can lead to hyperactivity symptoms that are characteristic of Attention-Deficit Hyperactivity Disorder (ADHD).

Getting the nervous system wired up properly is a big job. The brain contains billions of different types of nerve cells, which all have to be connected in a very precise fashion.

This circuitry self-assembles as an embryo grows, based on a developmental programme involving the actions of thousands of different genes.

The scientists discovered that a mutation in a single mouse gene, 'Elfn1', can have a big effect.

Their new findings give impetus to discover whether mutations in Elfn1 in humans can give rise to similar symptoms and whether they might play a part in some patients with epilepsy and ADHD.

These two conditions occur together far more often than expected by chance.

In an article just published in the international journal, PLOS ONE, Associate Professor in Genetics at Trinity, Kevin Mitchell, and Research Technical Officer, Dr Jackie Dolan, investigated the importance of the function played by Elfn1 and the protein it produces when expressed.

They did this by experimentally removing it from some mice and comparing the effects against those seen in mice with the normal gene.

Although overall brain anatomy and patterns of connectivity remained normal, there was clear evidence of disturbance in brain function in individuals without Elfn1.

Seizures occurred in some, and these became more common over time and were easily triggered by human interaction.

Secondly, hyperactivity was observed, and this showed an unusual response to the stimulant, amphetamine.

Amphetamine normally causes hyperactivity in animals that have Elfn1 present, as it does in most humans. Here, it reduced the hyperactivity of the mice without the gene.

This is similar to the situation in patients with ADHD, where amphetamine and related drugs have a paradoxical, calming effect.

"These findings clearly show that removal of the Elfn1 gene affects brain circuits with multiple consequences for behaviour," said Dr Dolan.

The seizures likely relate to the function of Elfn1 in dampening the response of the nervous system to strong stimuli in key brain structures called the cortex and hippocampus.

However, the development of ADHD-like hyperactivity focused on a different brain structure, known as the habenula.

This structure is part of a system that integrates information from multiple regions of the brain and regulates the activity of nerve cells that produce mood-regulating chemicals such as dopamine and serotonin.

Professor Mitchell said: "We are at the beginning of this process of figuring out how this gene works and understanding the consequences when it is mutated but, these animals provide a unique model to investigate how subtle changes in brain development can ultimately result in aberrant brain function".

Elfn1 was first discovered by Dr Dolan, Professor Mitchell and colleagues in 2007. The protein it produces when expressed allows communication from one nerve cell to another. In a study published in Science last year, Emily Sylwestrak and Anirvan Ghosh, of the University of California, San Diego, showed that the Elfn1 protein determined what kind of connection was made onto those nerve cells.

More information: dx.plos.org/10.1371/journal.pone.008049

Life-threatening disease in Children: Danish researchers expose new cause and understanding

Lars Allan Larsen

Danish researchers have just published findings that explain a previously unknown mechanism used by cells to communicate with one another.

The research significantly contributes to understanding why some children are born with malformations and why children and adults may develop life-threatening diseases.

Søren Tvorup Christensen

Dr. Søren Tvorup Christensen (Department of Biology) and Professor Lars Allan Larsen (Department of Cellular and Molecular Medicine) at the University of Copenhagen, in collaboration with colleagues in Denmark and France, have spearheaded the recent discovery which sheds new light on the causes of a range of debilitating diseases and birth defects.

Antennae-like structures on the surface of cells
Over the years, the research group has been a leader in primary cilium research.

Primary cilia are antennae-like structures found on the surface of nearly all cells in the human body.

These antennae are designed to receive signals, such as growth factor and hormones, from other cells in the body and then convert these signals to a response within individual cells.

Defective formation or function of these antennae can give rise to a range of serious maladies including heart defects, polycystic kidney disease, blindness, cancer, obesity and diabetes.

However, there remains a great deal of mystery as to how these antennae capture and convert signals within cells. The groundbreaking results have been published in Cell Reports, a prestigious scientific journal.

"We have identified an entirely new way by which these antennae are able to register signals in their midst, signals that serve to determine how cells divide and move amongst one another. This also serves to explain how a stem cell can develop into heart muscle," explains Søren Tvorup Christensen.

Dr. Søren Tvorup Christensen
"What we have found is that the antennae don't just capture signals via receptors out in the antennae, but they are also able to transport specific types of receptors down to the base of the antennae - where they are then activated and might possibly interact with a host of other signalling systems.

The receptors include the so-called Transforming Growth Factor beta (TGFβ) receptors which have previously been associated with birth defects and cancer.

Therefore, the base of the antennae can serve as a sort of control centre that coordinates the cell's ability to manage foetal development and the maintenance of organ function in adults."

TGFβ signalling and development of the heart 
Lars Allan Larsen has numerous years of experience in heart development research.

He adds "we know TGFβ signalling is very important during heart development and that a failure in this system can lead to the congenital heart defects that affect roughly 1% of all newborns.

Therefore, our discovery is a significant step towards demystifying the causes of congenital heart defects."

Professor Lars Allan Larsen
The two researchers also point out that defective TGFβ-signalling has been associated with neuro-degenerative diseases such as Alzheimers, Parkinsons disease and mental retardation.

Subsequently, the research group has begun studies on how these antennae - the primary cilia - regulate TGFβ-signalling during, among other processes, the transformation of stem cells into nerve cells.

"It's definitely an area that will be attracting lots of attention in years to come. Globally, there is a great deal of interest in understanding why the antennae are so important for our health," concludes the pair of researchers.

Understanding Dyslexia - Infographic

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Links to Understanding Special Needs and Technology

Here are four links to understanding special needs and technology:

• Here’s an article on iPads and visually-impaired students
• Here’s another on Special Ed iPads apps for reading and writing
• Here’s Internet4Classroom’s list of resources for Exceptional Children
• Here’s Jeannette Van Houten’s iEvaluate Apps for Special Needs–a checklist for evaluating apps for special needs students

If your school budget allows for only a limited number of apps and programs this year, choose the ones that will fill out your special needs collections. 

Here are some wonderful apps/websites to use with your special needs students:

• Babakus–a math app for students with dyscalculia or math disability
• One-handed keyboard--a standard desktop keyboard that allows those with limited or no use of one hand to continue typing
• Five-finger typist–self-paced typing exercises for the one-handed
• iPads for autism–the phenomenal impact of the iPad on communication abilities of the autistic.
• Speech and language apps from Mobile Education Store–apps to assist children with higher function autism
• How to make your own assistive technology devices
• iPads and Special Education–a very detailed list of a variety of apps from all different subjects.

Could a new phonetic alphabet promote Global Understanding?

Backers of a universal alphabet say it will make pronunciation easy and foster international understanding but can phonetic spelling systems really smooth the path to world peace and understanding?

You are in Vietnam and want a bowl of soup. You ask a local where you can get "pho". After momentary confusion you are handed a book.

It's the curse of phonetics. Pho was correct. But you failed to emphasise the vowel and so articulated in Vietnamese "copy" (of a book).

English has more pitfalls than most other languages. "Don't desert me here in the desert" is a classic example of the heteronym, words spelt the same but pronounced differently. Bill Bryson remarked in his book Mother Tongue that there were nine separate pronunciations of hegemony.

The argument over regulating spelling has been raging for more than a century. Charles Dickens and George Bernard Shaw were advocates - the latter leaving much of his will to setting up a new phonetic alphabet.

Today the cause has been taken up by Jaber George Jabbour, a Syrian banker living in the UK. He has set up SaypU, an alphabet with none of the indecipherable squiggles of traditional phonetic alphabets.

It contains 23 letters from the Roman alphabet as well as a back to front e. There is no place for "c", "q", or "x", which merely repeat sounds achievable by using other letters. The "ɘ" represents the soft "a" of "ago" or "about", a sound known as "schwa".

Jabbour was a frustrated traveller. He would see words on billboards, menus and street signs. But he didn't have a clue how to pronounce them.

When he first got to London he said Leicester Square as it is written - Le-ses-ter Square - receiving funny looks. Only later did he realise that it is pronounced "Lester".

These kind of misunderstandings create a barrier, he argues. In countries like India and China where the entire script is different it can be a wall between local and outsider.

A simplified universal alphabet would end not only misunderstanding. It would help foster peace around the world, he believes.

What is SaypU?

• Phonetic alphabet for writing all languages - name stands for spell as you pronounce universally
• Uses 24 letters from Latin alphabet
• Adds a reverse e - ɘ or Ǝ - for the soft "a" in "ago"
• Leaves out c (replaced with either k or s), q (k) and x (ks or gz)

More about SaypU

Understanding the Co-morbidity Between Dyslexia and Attention-Deficit Hyperactivity Disorder

Dyslexia and attention-deficit hyperactivity disorder (ADHD) are 2 of the most prevalent complex neurodevelopmental disorders of childhood, each affecting approximately 5% of the population in the United States.

These disorders are also each co-morbid with speech sound disorder and language impairment.

Understanding the nature of the comorbidity among these disorders could lead to advances in developmental theory, a deeper understanding of the genetic and brain mechanisms that cause disability, a more refined diagnostic classification scheme, and new treatments and interventions for children with these disorders.

As part of this special issue of Topics in Language Disorders, this review focuses on the comorbidity between dyslexia and ADHD.

It provides a review of the known etiological mechanisms that underlie each disorder. It describes the reconceptualization of these disorders using a multiple deficit model and provides a synopsis of recent studies that illustrate a cohesive approach to investigating the causes of comorbidity.

Future directions are discussed in the context of expanding these approaches to the co-morbidity among all 4 disorders.  

Read the full paper here

Autism: Mirror Neurons and Self-understanding

Recent findings are rapidly expanding researchers' understanding of a new class of brain cells, mirror neurons, which are active both when people perform an action and when they watch it being performed.

Some scientists speculate that a mirror system in people's 'perception' forms the basis for social behaviour, for our ability to imitate, acquire language, and show empathy and understanding.

It also may have played a role in the evolution of speech. Mirror neurons were so named because they fire, both when an animal acts and when it simply watches the same action. They were thought to "mirror" movement, as though the observer itself were acting.

Advances in the past few years have newly defined different types of mirror neurons in monkeys and shown how finely tuned these subsets of mirror neurons can be.

New studies also have further characterized both normal and abnormal, mirror activity in the brains of children with Autism, a social communication disorder, suggesting new approaches to treatment.

"The tremendous excitement that has been generated in the field by the study of mirror neurons stems from the implications of the findings, which have led to numerous new hypotheses about behavior, human evolution, and neuro-developmental disorders," says Mahlon DeLong, MD, of Emory University School of Medicine.

Mirror neurons, a class of nerve cells in areas of the brain relaying signals for planning movement and carrying it out, were discovered 11 years ago, an offshoot of studies examining hand and mouth movements in monkeys.

Mirror neuron research in the intervening years has expanded into a diverse array of fields and the implications have been enormous, encompassing; evolutionary development, theories of self and mind, and treatments for schizophrenia and stroke.

Findings include new research based on work in monkeys, showing that subsets of mirror neurons distinguish between observed actions carried out within hand's reach and those beyond the animal's personal space.

Read more of this article here: Mirror, Mirror In The Brain: Mirror Neurons, Self-understanding And Autism Research

International Dyslexia Assoc: The Impact on Mathematics

While teachers and parents are well aware of the effect of dyslexia on reading, they often overlook its impact on mathematics.

The mastery of the symbolic language of mathematics involves many verbal cognitive processes that can be affected by dyslexia.

Ignoring the impact of dyslexia on the mastery of mathematics can hamper a child’s progress in school and in life.

Dyslexia is the inability to decode and obtain meaning from the printed word. It is a learning disability, not a condition due to inadequate instruction or intelligence.

Estimates of the incidence of dyslexia in school age children range from 5 to 10% (Shaywitz, Shaywitz, Fletcher, & Esteban, 1990).

Dyslexia most clearly impacts reading, spelling, and written expression. However, dyslexia may also affect mathematics achievement.

Approximately 5.9 % of students are identified with a math disability, a number similar to those with a reading disability (Fuchs, Fuchs, Powell, Seethaler, Cirino, & Fletcher, 2008).

Mathematics has a symbolic language whose practical function is to express spatial and quantitative relationships.

Number sense is acquired in developmental stages similar to those in the acquisition of language.

The process begins as soon as children begin to move and explore their environments, placing one box into another, stringing beads, learning “all gone”, etc.

 Spatial relations concepts are based on identification of objects in space, distinguishing right from left, reasoning with abstract designs, and visualizing objects in other positions.

 Children first assimilate and integrate non-verbal experiences; then they associate numerical symbols, numbers, and mathematical words such as “less” to these experiences.

 Children need to have both experiences with mathematical relationships and the words to express them.

Reading numbers and recalling number names are prerequisites for using them to represent abstract quantities.

However, associating the names with the numerals, and recalling them when needed, may be difficult for children with dyslexia.

Mastery of numerical operations also involves retrieval of basic facts. Some children work diligently to learn the multiplication tables but cannot recall them, much to the frustration of teachers and parents.

Such retrieval problems were evident when Rosie , a bright ten year old with dyslexia, and her grandmother worked on learning the names of coins in a homework assignment.

“Grandma,” she said wearily, “ I can tell you that it’s worth ten cents but I don’t know its name.” The task of recalling, sequencing, and manipulating figures, shapes, letters, designs, patterns and numerals and associating them with quantities is analogous to associating letter names with the corresponding sounds, a task many children with dyslexia find challenging.

Instruction in mathematics is most frequently verbal instruction. This may be problematic for children with poor verbal comprehension and poor short term auditory memories.

They hear the teacher but do not fully comprehend or recall the concepts and operations she is describing because of language issues.

With faulty understanding, they are unable to apply the information correctly. Since mathematical concepts build on one another, this shaky foundation can adversely affect mastery of future concepts.

Moreover, the vocabulary of mathematics is unique and can be confusing. Subtraction problems can be phrased as “less than” “ take away”, “minus”, “subtract”, all of which refer to the same process.

Such multiple meanings should be directly taught but frequently it is simply assumed that children have learned them.

Word problems embed the math calculations in language. Performance here is impacted by problems with syntax and vocabulary, as well as calculation problems.

To obtain the correct answer, children must first comprehend the syntax and vocabulary, understand what the problem is asking, ignore extraneous information, devise a strategy to solve it, and retrieve and apply the requisite facts and operations.(Bryant & Bryant, 2008)

Solving algorithms also involves performing operations in correct sequence and reading operational signs correctly.

The symbolic language of math notations, such as decimal points, using x to signify the unknown, exponents, and parentheses, can be confusing.

Some children learn this language incidentally but for others this language must be frequently reinforced.

One eleven year old requested of his teacher, “Tell me which sign it is—the add one or the times one” before starting his calculations.

Dyslexia may make mastering mathematics difficult. Teachers and parents must be aware of potential issues and provide the supports necessary to ensure success in mathematics as well as in reading.

Alison Gopnik at TED Edinburgh: What do babies Think?

"Babies and young children are like the R&D division of the human species," says psychologist Alison Gopnik. Her research explores the sophisticated intelligence-gathering and decision-making that babies are really doing when they play.

Alison Gopnik takes us into the fascinating minds of babies and children, and shows us how much we understand before we even realize we do. Full bio »

Dyslexia: Understanding explicit and implicit instruction

When we talk about the teaching methods that work best for children with learning difficulties, we use the term explicit instruction and contrast it with implicit instruction. But what exactly do these terms mean?

Typical classroom teaching exposes children to words and reading materials without pointing out patterns in the reading material and without directing the students toward a specific goal. This is called implicit instruction and children who do not have language-learning problems will easily discover the patterns for themselves. But children who are dyslexic or have other neuro-linguistic challenges will not see the patterns or understand the purpose of the reading materials.

Explicit instruction, on the other hand, will offer the very same materials along with guidance on goals and expectations for the task, as well as examples, practice and feedback. With that additional framework and practice, a child with language-learning problems, such as dyslexia, can keep pace with his or her peers at grade level.

We might say that implicit learning is unconscious or intuitive, while explicit learning is conscious and directed.

The National Reading Panel, which studies the effectiveness of various approaches to teaching children how to read, suggests that explicit instruction can also boost comprehension for all types of learners: “…explicit or formal instruction in the application of comprehension strategies has been shown to be highly effective in enhancing understanding.”

Further information available from American National Institute of Child Health and Human Development (NICHD)

Understanding Dyslexia

The Background

In 1896, W. Pringle Morgan, a UK medical practitioner, provided one of the first descriptions of dyslexia. Prior to that, the disorder was thought to be a form of mental retardation and unfortunately that ghost has not been completely exorcised.

Published in the British Medical Journal (BMJ) was Morgan’s case of a 14-year old boy who had extreme difficulty in reading, but he excelled in sport and achieved the same level of his peers.

This intrigued many scientists who had been studying the disorder for years. They finally realised that those who have the disorder could actually possess above average to exceptional intelligence.

Some, they found out, even excel in sports and the creative arts, because of this, the distorted opinion that dyslexia is a form of mental retardation, was finally ruled out in academic circles.

The Root of the word
From the Greek words “dys” meaning difficulty and “lexia” meaning verbal language, dyslexia can be defined as a specific learning disorder resulting from neurological and genetic causes.

It affects one or more of the basic processes involved in understanding spoken or written language.

This results in the difficulty of the brain in stringing words, numbers, and symbols at least average intelligence. Dyslexia may show up as a problem in listening, thinking, speaking, reading, writing, or spelling or in a person’s ability in math.

Letter and word reversal and disorganisation of word order are common symptoms. Problems with coordination, memory, depth, perception, and discerning left from right may arise.

This explains why most dyslexics find it difficult to transfer information exactly from what is heard to what is seen and vice versa.

Research
Much research has been carried ou on Dyslexia and some researchers have determined that a specific gene is responsible for dyslexia. This supports their claim that the condition results from a brain difference and site that the right hemisphere of the brain of dyslexics is larger than that of normal individuals.

This may be the reason why dyslexics excel in areas controlled by the right hemisphere of the brain – such as artistic and athletic; 3D visualisation ability, musical talent; and creative problem solving skills but are poor in perceptual, motor, linguistic, and adaptive—areas controlled by the brain’s left hemisphere.

The Organic cause
For years, the organic cause of dyslexia has puzzled doctors who have been studying the disorder.

A significant breakthrough, however, was provided in 1998 by Dr. Sally Shaywitz, a researcher at the Yale University of Medicine and author of the book Overcoming Dyslexia.

Dr. Shaywitz’ s findings revealed that areas in the back of the brain that are usually activated when readers sounded out words are significantly less activated in dyslexics.

Areas in the front of dyslexics’ brains show more activity than in those of the brains of normal individuals.

Dyslexia and Science
The Science pertaining to Dyslexia has seen great progress, aiding better understanding. Despite the extensive research that has been done, there is still no 'cure' or specific scientifically-based programs that work, reliably.

Finding the right school with the proper reading programs and well-trained teachers and supportive parents, is certainly essential. Dr. Shaywitz, in an interview, stated that “there’s a huge need to educate our parents and our teachers.”

Long Term
Though dyslexia is seen as a permanent condition, it does not mean that we should leave dyslexics unsupported or unaided, for the rest of their lives. Recognising the nature of their Dyslexia, discovering and accepting their limitations, form part of the first steps in dealing with the disorder.

Dr. Shaywitz’s advice is, “go get help. It’s remarkable. The news is so good. We’ve learned so much (and are learning more all the time) and people who go and get help can totally turn their lives around.”

Dyslexia: Understanding your child's difficulties

Evaluating your child's reading needs, planning their program, monitoring progress and requesting suitable modifications and changes along the way, requires you to have responsive and appropriate answers to many practical questions.

• If my child is not performing at the correct level, at what level are they performing?
• What do they need to learn that they are not currently learning? Where is the gap?
• What services and instructions do they need to improve to support their learning? How do we fill that gap?
• How do we compare and monitor the progress made?

A question that you need to ask yourself is whether the school is giving you the correct information. Are you getting accurate and appropriate answers in the right context? Are you getting all the answers you require? Do you feel you have the knowledge or level of expertise to manage the situation?

It is one of the greatest burdens that fall on parents, being the carer and manager of your child's education, intervention and educational progress. You are told that 'the more you know and understand about your child's learning difficulties, the better your child will do.'

What a huge burden that places on you. It is no easy task. It is a diverse and complex role that is difficult to excel in but you are compelled to play it. If it seems too large, seek help. Share the burden with like-minded people, other parents and carers that are experiencing or have experienced a similar situation.

Dyslexia Untied: What does it feel like?

It is difficult to describe the feelings and sensations that swirl around your head and eyes but this YouTube video does well to illustrate the difficulties. More on Dyslexia Untied