dyslexia: what do paediatricians need to know?

OCCASIONAL REVIEW

Dyslexia: what dopaediatricians need to know?Anne O’Hare

AbstractForty per cent of a child’s waking life is spent in school and one of the

most intrusive impacts on the success or otherwise of this experience

is that of reading difficulties. Developmental dyslexia has a high genetic

contribution affecting 50% of children with dyslexic parents. The paedia-

trician may be consulted for a child with dyslexia to advocate, interpret

predisposing factors in the child’s developmental and medical history

and offer scientific interpretation of the vast range of theories and inter-

ventions proposed for dyslexia. The purpose of this article is to orientate

the paediatrician to what they need to know, so that they can maximize

their contribution in the care of children with developmental dyslexia

within a multidisciplinary team. It will cover the epidemiology and defini-

tion, the underlying hypotheses and underpinnings as well as the clinical

diagnosis and examination, the longer-term prospects for affected

children and the role of interventions.

Keywords developmental dyslexia; phonological awareness; reading

interventions; risk factors

Epidemiology and definition

Dyslexia is a common condition affecting 10e15% of English

speaking populations and is recognized more commonly in boys,

who outnumber girls by 4:1. Dyslexia affects users of all written

languages, but learning to read and write in English is particu-

larly challenging because it has an opaque orthography and the

relationship between letters and sounds is inconsistent and many

errors are permitted. This is compounded by the later introduc-

tion of many subject and technical words which are multisyllabic

and often contain Latin and Greek roots and affixes.

The most prominent symptom in dyslexia is a relative

inability to acquire word recognition in early school, resulting in

problems marrying up the phoneme (speech sound) to the

grapheme (its encoded or symbolic representation) on the page.

This symptom should be an educational ‘flag’ with most children

being recognized in early school, assessed and offered remedia-

tion and support within school with no resort to medical

consultation outwith the usual universal health services.

However, there are a number of exceptions to this pattern of

identification and management, whereby paediatricians are

approached by parents/carers, teachers and colleagues in other

professions in order to contribute to the diagnosis and manage-

ment of dyslexia. This article aims to give the paediatrician

Anne O’Hare MD FRCPCH Honorary Professor in the Section of Child Life &

Health, University of Edinburgh, 20 Sylvan Place, Edinburgh EH91 UW,

UK and Consultant Paediatrician at the Royal Hospital for Sick Children,

Edinburgh, UK. Conflict of interest: none.

PAEDIATRICS AND CHILD HEALTH 20:7 338

sufficient background knowledge of dyslexia so that he/she can

make this contribution effectively.

The obvious starting point in any paediatric consultation is to

clarify the details of the presenting complaint but almost inevi-

tably the child with a possible dyslexia is a challenge because

there will be important aspects of the history that need to be

established both from the teachers and the family. It is invaluable

to establish at the outset of the consultation the route by which

the child was referred for paediatric assessment. What was the

referrer hoping to achieve? Was the referral instigated by the

teacher or by the parents and the paediatrician should open

discussion in a non-judgemental way which allows teachers and

parents to air their concerns. The experience of one’s child failing

academically is a difficult one. Parents of such children can all

too often be met with opposition when what they need is reas-

surance that the problem is being taken seriously with all parties

working together.

Dyslexia is defined in the International Classification of

Diseases in the following way: “Dyslexia or a specific reading

disability is a difficulty learning to read, despite conventional

instruction, adequate intelligence and sociocultural opportunity.

It is dependent upon fundamental cognitive disabilities which are

frequently of constitutional origin”.

Dyslexia is a difficulty learning to read that is always present

in the early years. The reading difficulty can however appear to

‘recover’ particularly for reading comprehension in more intel-

lectually able children in secondary school. ‘Conventional

instruction’ is often assumed to have taken place if the child has

attended school regularly. However, this might be the area that

the parents feel was inadequate and which might have led to

them consulting a paediatrician. They may hold views that the

teaching of reading in school was poor, or that it should have

been ‘dyslexia-specific’ as their child’s difficulties came to light.

They may feel that the instruction needed to be more intense or

delivered on a one-to-one basis and are seeking to enlist the

paediatrician as an advocate to achieve this.

Alternatively, the teacher may have put in a huge amount of

input, but the child’s difficulties remain and they are looking to

the paediatrician for advice as to whether the child has any

health or developmental predispositions that might have resulted

in this persistent picture.

There are also many complex theories around the causes of

dyslexia and parents and teachers may consult a paediatrician

because of their scientific training. They hope to get some

interpretation of the efficacy of these treatments and are looking

to be guided as to how to best support and manage the child’s

dyslexia.

The definition of dyslexia also refers to the concept of

‘adequate intelligence’ and this too may represent a significant

challenge at a consultation. The so-called ‘discrepancy model’

whereby dyslexia is only defined if it is a specific difficulty and

out of step from the child’s intelligence is contentious (Figure 1).

Nevertheless, the term dyslexia is generally confined to

a specific reading difficulty. Reading skills do vary along with

intelligence in the normal population but in addition, dyslexic

children fall within the normal distribution of reading skills when

corrected for ability. Therefore, they do not form a ‘hump’ at the

lower end of the normal distribution. However, there are

a number of conditions which illustrate how an ability to decode

� 2010 Published by Elsevier Ltd.

Figure 1 Discrepancy between the spelling of a child with developmental dyslexia and their competence in visuo-motor figure drawing.

OCCASIONAL REVIEW

in reading is not synonymous with intelligence. Examples of this

are children with a learning disability who ‘bark’ at print or

children with autism spectrum disorders who are hyperlexical

and in both these situations the child will not have the accom-

panying comprehension of what they are reading. Therefore,

whilst adequate intelligence might appear in these examples to

be irrelevant to the acquisition of reading, a low intelligence can

impact on the so-called ‘top down’ skills in reading. The resulting

poor world knowledge, vocabulary, attention and motivation

may make successful reading acquisition more elusive for such

children.

Therefore it can be helpful to have some knowledge of the

child’s intellectual/learning potential in the formulation of why

he or she is experiencing difficulty learning to read. However, as

dyslexia is regarded as a specific difficulty, it is an inappropriate

term with which to label reading delay for children who have

more general learning problems. However, the contrary situation

can also arise whereby a child’s intellectual potential is under-

estimated and dyslexia discounted. Such a child might have

a developmental phonological speech delay associated with the

commonly accompanying delay in fine motor skills and the

surface features of their poor speech and handwriting may lead

the specific nature of their difficulty to be overlooked.

The definition of dyslexia also encompasses sociocultural

opportunities as an exclusionary factor and the paediatrician may

be able to assist here by taking into consideration what is known

about the context of the family and the child’s opportunities.

Learning to read is a complex behavioural development and

children who live in crowded homes with poor amenities or who

have been ‘looked after’ have lower attainments in their

academic skills from children with similar socioeconomic back-

grounds. Also children who are neglected or abused can differ-

entially experience more difficulties with speech and language

development than other cognitive domains and this in turn can

predispose them to reading difficulties. The mediators of poor

reading for children with reduced sociocultural opportunities are

highly complex and incorporate lack of parents’/carers’ reading

to the child, anxiety which can interfere with concentration in

school, motivation and application to read which is compounded

by a disinterest in the child’s achievements from the parents or

low expectations from the teacher. Possibly these are the reasons

why dyslexia can appear to be a ‘middle class’ diagnosis as it


might appear much more straightforward to exclude aspects such

as poor sociocultural opportunities and inadequate instruction

for children from these socioeconomic backgrounds.

Finally, within the definition of dyslexia, there is the challenge

of identifying ‘fundamental cognitive disabilities which are

frequently of constitutional origin’. This may be the reason why

the paediatrician is being consulted and is the most contentious

area and so will be considered in some detail in the rest of this

article, with some direction to extended reading. This challenge

is much more for children with developmental dyslexia and it is

important to remember that the brain and the environment work

together to produce the neural networks for reading acquisition

so although there may be constitutional cognitive disabilities, the

poor reading difficulties can also be compounded by experiential

factors.

Acquired dyslexia is much less common than the develop-

mental form. It can follow conditions such as dysphasia from

acquired brain injury or visual difficulties such as onset ocular

dyspraxia in ataxiaetelangiectasia and disconnection syndromes

as seen in infarction of the splenium of the corpus callosum from

ischaemia in the posterior cerebral artery territory following

raised intracranial pressure. Conditions of acquired dyslexia are

all individually rare but they should be suggested by the devel-

opmental trajectory, any evidence of regression and relevant and

predisposing past medical histories. As there is frequently

a presumption of mainstream education for these children, it is

critical not to overlook the possibility of acquired dyslexia as

a cause of poor academic attainment.

Causes of dyslexia

There has been enormous progress made in understanding the

pathogenesis of dyslexia with many contributions from carefully

delineated neuropsychological and linguistic studies,

complemented by information from the new techniques such as

functional brain imaging (fMRI).

Phonological awareness

Phonological awareness is appreciating the constituent speech

sounds of a word and it has the largest body of evidence that it is

an important deficit in dyslexia. Successful reading depends on

skills in word identification combined with reading and language


OCCASIONAL REVIEW

comprehension. The child needs to understand that the written

words are ‘encoded’ or symbolized representations of the spoken

words. Temple states that “dyslexia appears to involve a problem

in learning to relate visual input to phonological representations”

(Figure 2).

Phonological representation allows the child to appreciate the

constituent speech sounds of a word and then in turn, phonemic

awareness is the ability to decompose words into these constit-

uent sounds and map them onto orthographic or the written

representation. Sight word learning depends on the child’s

appreciation of alphabetic principles, that is to say that letters

represent sounds. It is possible to learn to talk without this

conscious appreciation of the individual phonemes but learning

to read calls upon these skills. In turn, reading builds up the

child’s capacity for both phonemic awareness and orthography

and phonological representations, so that normal readers

develop proficiency in language comprehension and fluent word

identification and in that very process, build up their own

underlying skills. In contrast, children with dyslexia compound

their underlying weaknesses in these areas.

Children with poor phonological awareness have problems in

acquiring skills in speech sound combinations with rhyme and

alliteration and syllable recognition and can be identified in

nursery school. Their poor phonological representations are also

contributed to by relative deficits in verbal short-term memory

and verbal working memory. The former can be conceived as the

skill that would be required to remember a forward digit span,

whereas the latter refers to a manipulation in the so-called

‘mental workspace’ for a task such as a backward digit span.

Verbal working memory is not synonymous with verbal intellect

and it has a wide variability. However, dyslexic children with

poor verbal working memory capacity struggle with maths as

well as with literacy. Decreased phonological awareness is also

accompanied by problems in rapid naming.

Phonological awareness is now a generally accepted theory of

dyslexia, although it is still unclear why some children develop

their phonological skills later in the course of their dyslexia but

that these skills remain less fluent, particularly in spelling and

they still experience difficulty with orthographically irregular

words.

However, more controversy surrounds a related theory of

rapid auditory processing which suggests that low level auditory

Figure 2 “Dyslexia appears to involve a problem in learning to relate

visual input to phonological representations” (Temple 2000).


sensory processing difficulties underpin the poor phonological

awareness. This hypothesis proposes that there are deficits in

processing transient acoustic signals that impair the ability to

discriminate phonemes or speech sounds and which in turn lead

to the difficulty in establishing stable phonological representa-

tions. Adaptive computer game interventions that address the

auditory processing deficits have been developed but with an

equivocal evidence base. Other researchers have argued that

these low level auditory deficits (and perhaps also low level

visual deficits) are actually biological markers of dyslexia but are

not causative.

Vision and reading

The fact that dyslexia was originally known as ‘word blindness’

illustrates the importance assigned to the visual system as

a potential underpinning of dyslexia. Although the strength of

evidence in recent years has been clearly in support of phono-

logical awareness problems in developmental dyslexia, there is

still a good deal of work continuing into exploring vision and

reading and some of this leads to postulated interventions which

families and teaching staff may enquire about from the

paediatrician.

Particular attention has focused on the magnocellular system,

sometimes known as the ‘transient system’ subserved by large

neurones in the visual system that have a high conduction

velocity and a high degree of sensitivity to movement and rapid

change in the visual field. It has a role in saccadic eye move-

ments and the visuo-attentional demands of encoding letter

sequences. The difficulty in learning to read in dyslexia is

hypothesized to exist because of disorders in these low level

visual systems with involvement of abnormally developed

thalamic magnocellular neurones, resulting in deficits in

processing moving stimuli and thus impacting on the reading

activity of saccadic eye movements.

However, the magnocellular hypothesis has to be reconciled

with the fact that dyslexics are impaired in reading single words

and not just when they are tracking lines of text. Also children

can learn to read normally whilst still having a transient system

deficit and dyslexic children usually have no problems with

visual acuity or visual masking under normal conditions.

However, all readers do require greater luminosity as text gets

smaller and closer together and visual processes do contribute

some variance in predicting reading skills in poor readers.

Many visual areas during reading show differences between

controls and adults with dyslexia and there are 17 areas of the

brain implicated in this way on functional brain imaging. The

most replication is for the angular gyrus which is less active in

dyslexic adults during rhyme detection but which shows greater

activity during orthographic identification tasks.

A number of observations have also been made about

binocular control in children with dyslexia. Visual perceptual

instability has been imputed for such children because they

report the experience of small letters appearing to move around,

change places and merge. Individuals with dyslexia, including

adults and children, have also reported fading of text, blurring,

movement of lines of text and report benefit from looking at text

under grey and coloured overlays. It has been proposed that

unintended eye movements are a particular problem for children

if the eyes are converged at 30 cm for reading. The poor


OCCASIONAL REVIEW

magnocellular function hypothesis proposes that individuals

with dyslexia experience the line of the two eyes sight crossing

and recrossing, thus objects seen by the two eyes move over each

other and change places. Normally, the motion signals provided

by each eye are fed back to the eye muscles to keep the eye

steady under utro ocular control. However, a high instance of

visual perceptual instability has been reported by some authors

for children with reading problems.

However, any causal relationship between reading and poor

binocular coordination has not been established and the inter-

vention efficacy of approaches employed to support visual diffi-

culties and reading are equivocal. Intriguingly, there is also

a biological model that challenges the contention that low level

retinal magnocellular difficulties have a relationship to high

level magnocellular performance. There is a condition of

WilliamseBeuren syndrome associated with a hemideletion of

chromosome 7q11.23 in which there is an impairment in retinal

magnocellular pathways but no visual cortical disorder.

Nevertheless, we know that nearly a quarter of children

treated on an intense randomized controlled trial for phono-

logical training will not improve their reading. Therefore it is

likely that further work remains to be done to see how best to

manage reading recovery for these children and this may involve

continuing to examine the contribution of vision to reading.

Cerebellar hypothesis of dyslexia

The cerebellar hypothesis proposes that there is a general

learning disorder in dyslexia with a failure to automize reading

and writing skills. Recent functional brain imaging in adults with

dyslexia revealed that the right cerebellar declive and lentiform

nucleus are the most significant areas in terms of differences

between adult dyslexics and normally developed readers. These

findings suggest that the brain phenotype in adults with dyslexia

does relate to the different deficits of automization of language

based processes such as grapheme/phoneme correspondence

and rapid access to the lexicon for vocabulary. Many areas of the

brain have been reported as differing between individuals with

dyslexia and those who are unaffected, including the planum

temporale, corpus callosum, thalamus and Wernicke’s area.

However, the recent findings in the fMRI of the cerebellum

involvement are intriguing for whilst they do not suggest that

there are no other anatomical abnormalities associated with the

linguistic deficits in dyslexia, they do fit with the increasing

demonstration that the cerebellum is involved in learning

sequences and in automization. These in turn support language

processing and in conjunction with the abnormalities described

in the lentiform nucleus, support the contention that dyslexia is

a specific linguistic and reading automization impairment.

Clinical diagnosis

The majority of children with dyslexia have the developmental

form which has a very high genetic contribution. Linkage studies

have implicated sites on chromosomes 6, 15, 1, 3, 16 and 19 with

some of these sites linking solely for dyslexia and others for

dyslexia in conjunction with specific language impairment.

50e60% of the variance in reading achievement and reading

related abilities can be explained by genetic factors. There is

a 50% risk for a child developing dyslexia if their parent is


dyslexic, and this is a risk which remains even if the child

is adopted. The cognitive phenotype of this complex inherited

learning disability is heterogeneous. Therefore a detailed family

history of spoken and written language development across

generations is helpful when trying to establish whether a reading

difficulty arises from a developmental dyslexia.

Speech and language delay and disorders are also very

important in the pathogenesis of dyslexia. Children who enter

school with receptive language impairments are at particular risk

and, when followed up long-term, they underachieve academi-

cally compared to other children with similar nonverbal intellect.

Some forms of speech and language disorder, such as verbal

dyspraxia, are particularly intrusive to the acquisition of reading.

Motor skills in children at risk for familial dyslexia are often

delayed and many children in the school years will have clinical

features of developmental coordination disorder. Comorbid

conditions such as attention deficit hyperactivity disorder also

have a raised prevalence in children with dyslexia.

Clinical examination

The paediatrician may be seeing a child who is considered to

have dyslexia because they are failing to improve in their reading

with appropriate intervention but in fact they might have a more

general learning difficulty or a speech and language impairment.

An examination of their growth and body habitus to exclude

conditions such as sex aneuploidies, occult neurocutaneous

conditions and suboptimal head growth may all be appropriate.

It can sometimes be quite difficult to confirm a history of

regression because it may be a problem to obtain a true picture of

the developmental trajectory of the reading difficulty and

academic progress because a child has changed between teaching

staff and it proves impossible to get a history from someone who

has known the child in the classroom over time. However, any

true picture of regression is clearly important to establish and

rare neurodegenerative conditions such as Nieman Pick type C

disease and adrenoleukodystrophy can present with progressive

academic failure.

Whilst vision and hearing deficits are not a cause of dyslexia,

they are of course a cause of not being able to see text or to hear

phonemes clearly. Sometimes a condition that results in

progressive sensory impairment may cause confusion with

dyslexia, particularly at the transition of children going up from

primary to secondary school.

A more contentious area might be what paediatricians should

expect to do in the clinical examination for children who are

otherwise normal, developmentally and physically. There are

a number of straightforward aspects to consider, much of which

can be established by talking to the teacher and parent, rather

than having to examine these elements directly. This multidis-

ciplinary addition to the paediatric contribution allows one to

establish whether the child has an ability to understand the

concepts and conventions about print. Do they know that words

are made up of letters and that they are processed from left to

right in written English and that they are demarcated by spaces.

Does the child have letter level knowledge in terms of their

phonological and orthographic awareness? Has the child had an

assessment of their reading comprehension and word decoding

level? The paediatrician may wish to directly measure elements

of the child’s cognitive and linguistic skills such as assessing


OCCASIONAL REVIEW

receptive vocabulary with the British Picture Vocabulary Scale to

give a baseline against which their literacy difficulties can be

interpreted.

Phonological awareness and verbal memory can also be

assessed. Verbal short-term memory can be measured with

a forward digit span such as that found in the Aston Index, and

the verbal working memory can be explored i.e. the child’s

capacity to store and manipulate information in the mental

auditory workspace, by the reverse digit span, again of some-

thing like the Aston Index (Figure 3). There are a range of

assessments for phonological awareness; the JeromeeRosner

Auditory Analysis and the Phonological Assessment Battery

which look at aspects of phonological awareness such as allit-

eration, rhyming, semantic fluency and non-word reading.

Dyslexia and developmental coordination disorder often

coexist and handwriting difficulties can compound the problems

of written language with a dyspraxic dysgraphia (an ‘uncertainty’

regarding the movements required to form letters, words and

spacing). This can exacerbate the spelling orthography difficul-

ties. Insights into coordination, motor sequencing and balance

can be achieved through the neurodevelopmental examination of

the sensory motor system using examination tools such as the

Quick Neurological Screening Test. It is important not to over-

emphasize findings such as handeeye dominance and cross

laterality difficulties as these have been incorrectly interpreted in

the past as underpinning the dyslexia. There is no requirement to

examine for low level sensory difficulties in terms of temporal

processing or ‘scotopic sensitivity’ as their role in the causation

of dyslexia remains equivocal.

Prevention and prognosis

Many general factors such as prematurity, birth asphyxia,

developmental impairments of speech and language and coor-

dination predispose children to failure when learning to read.

The paediatrician can help identify when a child may be at risk of

reading failure and discuss this with families to encourage

a timely sharing of information with teachers and school to assist

monitoring of the child’s entry into literacy.

As developmental dyslexia is primarily associated with

phonological skill deficiencies, vocabulary letter knowledge in

late nursery and early primary school are recognized risk factors

for reading difficulties. Some children with dyslexia do develop

these phonological skills and they do learn to read but their

spelling remains less fluent and they can struggle with ortho-

graphically irregular words e.g. confusing homophemes, that is

to say words that sound the same but are spelt differently and

have different meanings. The impact of these poor phonological

Figure 3 Verbal memory and phonological representations/dyslexia.


skills may be mitigated by variations in cognitive and language

skills. College students who are ‘recovered’ dyslexics may have

reading comprehension that is the same as their age-matched

student peers but, they have inaccurate and dysfluent word

recognition and spelling skills. Some studies, however, have

shown that adolescents with dyslexia have significant long-term

impacts on their academic attainments with poor catch up in

schools between the ages of 8e13 years.

It has been argued that decoding instruction should not be

thought of as an activity confined to early schooling. Many

children, and particularly those with dyslexia, require ongoing

instruction for word analysis and spelling, especially as they start

to meet many multisyllabic words in their literature and text

books as they enter early secondary school and many of these

technical words will contain Latin and Greek roots and affixes.

Management

Presuming that the non-dyslexic factors such as correcting

refractive errors have been accounted for, the primary treatment

for dyslexia is that of getting the reading instruction and envi-

ronment right and this is under the auspices of the education

department. The approach needs to incorporate alphabet

knowledge activity and phonemic awareness. Identifying

dyslexia can be helpful in its own right and contribute to

reducing the child’s anxiety over their being to blame for the

reading failure. Randomized controlled trials of phonological

awareness training and of intensive small group interventions for

reading have been shown to be effective. Sometimes it is

appropriate to consider adding to these approaches in school by

home-based programmes which build up the child’s capacity in

phonological awareness.

Visual treatments are more contentious. Eye movement

exercises for unstable vergence may lead to improved perceptual

abilities and saccade control but there is no adequate controlled

trial to demonstrate how well this subsequently remediates the

reading difficulty in dyslexia and also many children without

dyslexia have similar unstable vergence.

Similarly, there are still problems in interpreting whether

there are any significant benefits to the use of coloured overlays

or tinted glasses, which is work that is based on the reported

observations by Mearns and Irlen of subjective benefit from

coloured overlays reducing discomfort and difficulties with text.

Randomized controlled trials of coloured overlays have not

shown impressive improvements and most of the work has

concentrated on reporting increase in the rate of reading and it is

not clear how functional this change is in the long-term.

Fatty acid supplementation, reflex intervention, balance training

[for dyslexia, dyspraxia and attention deficit (Ddat)]

A number of interventions have been reported as beneficial in

reading delay including some individuals with dyslexia, through

the conduct of single randomized trials, Omega 3 fatty acid

supplementation was reported to confer benefit in reading delay

in children with developmental coordination disorder. Treatment

replicating primary reflex movements advanced reading age for

children with specific reading difficulties. Replicated randomized

controlled trials have not yet been reported and the underlying

potential mechanisms remain unclear.


Practice points

C Children with dyslexic parents have a 50% risk of experiencing

reading difficulties.

C Developmental impairments of speech and language predis-

pose to dyslexia.

C Children with dyslexia have poor phonological awareness and

in their early years demonstrate difficulties in vocabulary

development and alphabetic knowledge.

C The degree to which other features such as problems with

visual systems, primitive reflexes and nutritional deficiencies

remain controversial.

C The paediatrician can have a valuable role in helping to

identify children at risk of dyslexia and contributing in

a multidisciplinary team towards appropriate assessment and

intervention.

C Referral for assessment and management from colleagues in

speech and language therapy and occupational therapy may

also contribute to the assessment and management of

children with dyslexia and associated dysgraphia.

OCCASIONAL REVIEW

Some approaches have been adopted into learning support

strategies but the overall continuing approach to remediate

reading difficulties incorporates primarily addressing the

phonological and linguistic difficulties and enhancing educa-

tional intervention that draws on building up the skills that

are causally associated with skilled reading success (www.

teachernet.gov.uk).

Funding source

No funding involved. A

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http://www.teachernet.gov.uk

http://www.teachernet.gov.uk

http://www.assemblywales.org/bus-home/bus-committees/bus-committees-third1/bus-committees-third-els-home/bus-committees-third-els-agendas.htm%3fact=dis&id=63637&ds=11/2007







dyslexia: what do paediatricians need to know?

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