Invited Speakers

(In alphabetical order)

Cerebral palsy: modern imaging, developmental neurology, and management of motor disorder in cerebral palsy

M BAX

Chelsea and Westminster Hospital, London, UK

Tom Ingram would have approved of the title of our Conference, ‘From Evidence to Empowerment’.

Today we have new ways of collecting evidence about cerebral palsy (CP) with the use of MRI. We find that the imaging links very much -with the clinical findings so that the degree of abnormal topographical features of the image distinguishes between spastic diplegia and the spastic quadriplegias. Most of these cases are associated with periventricular leukomalacia. We can also observe the extent of the damage in hemiplegia which may be caused by a ‘stroke’ or by asymmetrical periventricular leukomalacia. We can note the often extensive damage to motor cortex in the latter cases, and to motor tracts in the former cases and wonder why it is that children with hemiplegia and spastic diplegia walk.

I shall, then, review the earlier literature on the development of human walking, including the work of Peiper and Andre-Thomas. This suggests that the basic mechanism of walking is not a cortical function. A clearer understanding of these mechanisms has significance for the way we organize therapy.

A combination of imaging data and clinical data means that there are predictions, as shown from gross motor function studies, of the outcome in terms of walking and they are now rather good. Our physical therapy should be thought out accordingly. This will lead me to suggest that we can make rather specific suggestions about what therapists can and cannot do with particular children with CP

I shall end by hoping that Ingram would have approved of my proposals.

Molecular basis of Rett syndrome

A BIRD

Edinburgh University, Edinburgh, UK

Rett syndrome (RS) is an inherited neurological disorder characterized by Stereotypie hand wringing, irregular breathing, microcephaly, seizures, and motor impairment. About 80% of patients have a mutation in the X-linked MECP2 gene, which encodes a methyl- CpG binding transcriptional repressor. To understand the molecular basis of RS, it is necessary to identify MECP2-regulated genes. MECP2-nuu mice mimic certain features of the Rett phenotype and previous studies of this model revealed minor alterations in brain gene expression. A candidate approach, however, established the gene for a brainderived neurotropic factor, a neuronal growth factor, as an MeCP2 target. We have used differential display and microarray technologies to seek additional deregulated genes in the MECP2-null mouse brain. We found that mice displaying neurological symptoms showed apparent mis-expression of several genes and this has been confirmed by quantitative ‘realtime’ PCR analysis. Several of the affected genes have subsequently been shown to bind MECP2 in the brain. Physiological measurements raise the possibility that these transcriptional changes underlie some aspects of Rett syndrome.

Pragmatics in communication

D BISHOP

University of Oxford, Oxford, UK

Most assessments of children’s language focus on mastery of structural aspects of language (grammar and phonology), verbal knowledge and reasoning, or verbal memory. However, many children have communicative difficulties that may not be tapped by such tests. Communication may break down if the child does not construct messages to take into account the listener’s knowledge, or fails to take context into account when interpreting what other people say, leading to an overliteral interpretation. In this talk I shall discuss the range of pragmatic difficulties that we have observed in our studies of children with communication problems, and consider issues surrounding the assessment of pragmatic skills. Pragmatic impairment is an important and often overlooked component of many developmental disorders, and may arise for a range of different underlying reasons.

Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis

PF BOLTON

Department of Child & Adolescent Psychiatry & The MRC Centre for Social, Genetic and Developmental Psychiatry, The Institute of Psychiatry, Kings College, London, UK

Tuberous sclerosis (TS) is a genetic disorder resulting from mutation in the tumour suppressor genes TSC1/TSC2. Mutations in these genes give rise to variable numbers of relatively circumscribed tumorous growths (hamartomas) that can be located in a variety of different organ systems. The classic brain lesions include subependymal nodules and cortical tubers. TS is strongly associated with autistic spectrum disorder, with around half of those affected developing the behavioural syndrome. Individuals with TSC2 mutations seem to be more prone to develop autism, but the disorder is reported in individuals with TSC1 mutations. Moreover, monozygotic twins with TS who are discordant for autism spectrum disorder have been reported, suggesting that non-genetic factors influence developmental outcome. Several neurological features index the risk for autism spectrum disorder in TS and these include: the presence of early-onset, treatment resistant, infantile spasm-like seizures, temporal lobe epileptiform discharges, and cortical and subcortical metabolic changes on PET imaging in the temporal lobes, cerebellum, and caudate. On the basis of these findings and neuropsychological theories of autism, it has been proposed that secondary generalized, focal epileptiform discharges within the temporal lobes may perturb the proper establishment of key social- cognitive representations concerned with gaze and face processing during an early critical period of development. In turn, this leads onto the development of an autism spectrum disorder. The evidence for and against this hypothesis will be reviewed.

Spasticity: mechanisms of deformity and management

IK BROWN. PD EUNSON

Royal Hospital for Sick Children, Edinburgh, UK

The current practice for management of spasticity and secondary deformity is not strongly supported by good quality evidence. Controlled studies in this population are not easy as the final outcome is delayed by many years and there are many confounding factors. Yet clinicians and therapists are expected to manage spasticity and prevent contractions. The choice of physical therapy philosophy, orthotic devices, drug therapy, and orthopaedic interventions increases each year.

This personal practice session will review the mechanisms of deformity in children with spasticity, and review the evidence for use of orthoses, botulinum toxin therapy, and intrathecal baclofen therapy. The speakers will use their own clinical experience to illustrate the session and will welcome discussion with the audience.

Acquired cognitive impairment as a consequence of epilepsy

T DEONNA

Neuropaediatric Unit, University Children ‘s Hospital, CHUV, Lausanne, Switzerland

Most children who develop epilepsy maintain their cognitive potential. However, several factors, directly or indirectly related to the disease can interfere, temporarily or during a more prolonged period of childhood, with learning abilities, school progress, and behaviour. Some epileptic syndromes present with language, cognitive, and/or behavioural regression as the main, and sometimes only, epileptic manifestation, but with intense paroxysmal epileptic EEG activity, mainly during sleep (CSWS). The existence, severity, duration, and nature of these symptoms is extremely variable but has been unraveled by longitudinal correlative clinical-EEC studies. Language, cognition, and/or behavioural regression can be seen in children with a variety of focal brain pathologies, but also in children within the spectrum of otherwise benign epilepsies (idiopathic partial epilepsies with focal sharp waves). The dynamics of onset and recovery of the cognitive and behavioural ‘epileptic’ symptoms may be insidious and protracted unless the clear paroxysmal manifestations are considered the hallmark of epilepsy. The functional role of the epileptic zone(s) involved is one of the crucial determinants of the clinical symptoms, as can be observed in some frontal epilepsies, and can long go unrecognized. The direct role of epilepsy in causing cognitive and behavioural symptoms can be seen and studied in very different situations, such as prolonged ictal-post-ictal ‘cognitive’ states, as an immediate correlate of EEG discharges, in special cognitive epileptic syndromes, in cases of newly diagnosed epilepsy, and in some surgical cases. These situations have helped us to understand and isolate the direct effect of epilepsy from all other variables (drugs, brain damage, psychological problems, etc.), often confounded in cross-sectional group studies.

Redesign of services for children with disabilities

E DHOUIEB. J MACKENZIE, Z DUNHILL.

Royal Hospital for Sick Children, Hospitals Division, Lothian University, Edinburgh, UK

Following on from the redesign of Acute services within the Royal Hospital for Sick Children, a redesign of Community and Therapy services took place.

The purpose of this project was to provide an integrated responsive service for children with complex needs and their families which was needs, rather than service, led.

The redesign was done from a ‘bottom up’ approach involving views of all stakeholders, but supported the Scottish Executive Child Health Support Group Child Health Template (2001) and the action plan from the Scottish Executive ‘ForScotland’s Children’ (2001) report.

Several workshops were held involving parents, voluntary groups, Primary Care, three local authority social work and education personnel, and our own staff to identify the issues and plan the work. A parent focus group was held, and several of the action teams had parent or parent groups represented. Two voluntary agencies representing parents, the Special Needs Information Point (SNIP), and Contact a Family also sat on the project’s Strategy Group. The project was divided into four main areas: Integrated Practice, Information Management, Infrastructure, and Training.

All work supported better integration of services across agencies and involving the child and family in decision-making.

The project set up local multi-agency care coordination teams to plan services and goals with families. This was supported by a single assessment process, parent held records, integration with mainstream schools, clear transition process into adult services, improved interface between acute services, Primary Care, community services, parent and professional information, sharing of information, equipment management, and streamlined management structures.

Functional vision in children with visual impairment: identifying the limitations and working within and around them

GN DUTTON

Royal Hospital for Sick Children, Glasgow, UK

One’s own brain is the frame of reference for one’s own normality. Children with poor vision from an early age know their vision to be ‘normal’ just as we do, but we cannot use our vision as the frame of reference for what the child with poor vision sees.

We need to be able to characterize the vision of the child and identify the limitations. The basic thresholds of visual function comprise: binocular visual acuity; contrast sensitivity; colour discrimination; stereopsis; the binocular visual fields; and the perception of movement.

The thresholds of cognitive visual function which allow us to appreciate, move through, and recognize individual elements of the visual scene include: the complexity (degree of crowding) at which an item cannot be found (this needs to be understood); the degree of ‘pixelation’ of the three dimensional visual scene to allow accurate visually guided movement of the body (i.e. it is likely that this is different between the upper and the lower limbs in some children) ; the ability to understand facial expressions (and at what distance) ; the ability to recognize faces both straight on and from the side; the ability to recognize shapes, objects, and text; and the ability to use vision to navigate and not get lost.

All of the above can be impaired in any combination and to any degree by damage to the brain and/or its visual input.

A clinical approach is required which attempts to determine the visual thresholds for all of these elements, and which clearly explains to all those working with the children how to work within these thresholds or to compensate for them.

Usefulness of the hemiplegic hand: aspects of treatment in children with cerebral palsy

AC ELIASSON

Karolinska Institute, Stockholm, Sweden

An individual’s ability to perform hand skills efficiently is to a great extent influenced by sensorimotor capacity, but also by the context in which the hand would be used. When investigating adolescents’ experience of living with hemiplegia, it was apparent that they made conscious choices about what would be the most effective strategies to use for carrying out certain activities in certain environments. The choice involved weighing the ability of different options to find the least negative alternative. Treatment for children with cerebral palsy (CP) requires careful analysis of tasks as well as behaviour, taking into consideration the complex issue of using the hands. An additional important aspect for treatment is the expected typical development after early brain lesions. Almost nothing is known about the development of hand function in children with CR However, preliminary results of a study investigating basic coordination during grasping (mean age at assessment 13 years in between investigations), demonstrated small changes of the temporal pattern and force regulation while functional improvements of hand skills were more consistently improved. This different course of development needs to influence the development of theories for treatment. This presentation will justify different treatment programmes based on principles of motor control and motor learning. Motor learning models emphasize that self-generated, voluntary actions at the right level of task difficulty, utilized and repeated in playful and motivational settings, are most successful. Based on these assenions, treatment can be guided by certain keywords: motivation, goal setting, activities of an appropriate difficulty level, repetition, and supervision. The aim of this talk is to use knowledge of children’s experience and wishes, clinical practice, and studies of intervention to highlight the possibility of improving the usefulness of the hands in daily life. Examples of treatment will be provided with the assistance of the World Health Organization International Classification of Functioning, Disability and Health on the levels of Body Function and Activity and Participation.

Dissection of molecular mechanisms underlying speech and language disorders

SE FISHER

Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, UK

A significant proportion of children have developmental learning disorders of unexplained origin, such as autism, speech/language impairment, and dyslexia. In combination, these problems may affect 10 to 15% of the population, making a major impact on education, mental health, and social wellbeing. Impairment tends to run in families and studies of twins suggest that genetic risk factors are important. However, many genes are probably involved. Innovations in molecular genetics have raised the possibility of identifying specific genetic variants that confer susceptibility. Success in this area will have substantial ramifications. These include early identification of those at elevated risk, use of genetic information in developing novel environmental interventions, and increased understanding of how and why these disorders occur. We recently found the first case of a gene that is mutated in a speech and language disorder. This gene has the technical name of ‘FOXP2′. People who have FOXP2 mutations develop major problems with controlling the complicated mouth movements needed for speech, along with deficits in many aspects of language and grammar. Alteration OFOXP2 itself explains only a small proportion of cases of developmental disorder. However, studies of the function of this gene give a novel route for exploring the relevant neuronal mechanisms.

Molecular investigations of the central nervous system indicate that the gene may be involved in establishing and maintaining connectivity of neural circuits in mammals, by switching on or off other genes in early development. Notably, it has been shown that FOXP2 was subject to positive selection in recent human evolution. Nevertheless, consideration of findings from multiple levels of analysis demonstrate that FOXP2 cannot be characterized as ‘the gene for speech’, but instead as only one piece of a much more complex puzzle.

Insight on hand function from functional brain imaging

H FORSSBERG

Karolinska Institute, Stockholm, Sweden

Impaired dexterity in children with cerebral palsy (CP) has a multifactorial background. In addition to spasticity, musculoskeletal malformations, and muscle weakness, the sensorimotor mechanisms generating and adapting the movements are disturbed. The dexterity of the human hand is based on the ability to control movement and force of the fingertips precisely in relation to a given task. When we lift an object, grasp stability is provided by an automatized generation of grip forces preceding the initiation of lift forces. If the object is familiar, the fingertip forces are targeted to the weight of the object and to the friction of the contact surfaces, in order to perform a smooth and well coordinated lift movement. The programming of fingertip forces is based on internal neural representations of the object, which are updated after each lift of the object. If the force output is too large the movement will be jerky and there will be a rapid termination of the force generation. If the output is too small, the object will not be lifted from the surface and additional force pulses are required.

In several studies, the sensorimotor mechanisms for providing grasp stability and for anticipating the fingertip forces have been shown to be deficient in children with CP In order to understand which brain functions are disturbed in these conditions, we first performed a series of functional MRI experiments in which we explored the bilateral fronto-parietal cortical areas that are involved in the control of the fingertip forces during object manipulation. We could identify areas with specific functions for providing grasp stability and for controlling small delicate forces during a grip. Recent studies indicate that Brodman area 44 and the anterior part of the inferior parietal gyrus are involved in the process of updating the internal representation of the object, and that the cerebellum is involved in correcting an erroneously high programmed movement. The contralateral sensorimotor cortex induces increased force pulses after an erroneously low programmed force output.

The National CLEFTNET Project for children with cleft palate

FE GIBBON

Queen Margaret University College, Edinburgh, UK

Electropalatography (EPG) is a technique that measures the tongue’s contact with the hard palate. In order to record these articulatory contact patterns, a special artificial palate is constructed that fits against the roof of the speaker’s mouth. Embedded in the \palate are electrodes that can detect when the tongue is touching them. EPG also gives visual feedback of tongue patterns and, under the guidance of a speech therapist, people with speech disorders can use this feedback to improve their articulation. Although research has shown that EPCi is an effective therapy, it was not available in Scotland until CLEFTNET was established.

CLEFTNET, funded in 1996 by the Scottish Executive Department of Health, provided cleft palate centres in Scotland with EPG and established electronic links between the centres and Queen Margaret University College (QMUC), Edinburgh. Articulatory data gathered at the centres are sent to QMUC, where experts carry out a detailed analysis leading to a precise diagnosis of the speech difficulty and to a set of therapy guidelines. Results are returned to the clinicians for use in therapy sessions. The project has widened access to EPG so that it is now available to everyone in Scotland with cleft palate.

CLEFTNET is also a unique research resource. EPG data is entered into a database, allowing researchers to study articulation disorders in a larger group than has been possible in the past. The research team have recently secured major funding to extend CLEFTNET to include England, Wales, and Northern Ireland. The new project, CLEFTNET UK, began in July 2004.

Feeding problems: another look at the functional background of oral transport difficulties. Oral autotherapy with the Innsbruck Sensorimotor Activator and Regulator

H HABERFELLNER

Department of Developmental, Neurology and (Re-) Habilitation, Innsbruck University Children’s Hospital, Innsbruck, Austria

Oro-pharyngeal transport problems based on postural and movement dysfunctions of oral and extraoral structures can produce the same dysfunctional stereotypes in very different diseases and pathological conditions. A habitually open mouth, mandibular instability, poor facial, lip, and tongue movements which result in drooling, and feeding and speech problems are the most irritating consequences. They are partly based on developmental changes of bony structures and soft tissues between the skull base and shoulder girdle and also on multiple functional interrelations between them. Multifunctional use of these structures and the fact that they are interlinked makes them prone to interlinked dysfunction. However, these same properties also makes them accessible to therapeutically induced beneficial cycles.

Therapists who work on facial and oro-pharyngeal dysfunctions have to take into account postural influences from the whole body on the mouth, especially the shoulder girdle and neck, for therapy to be successful. Insufficient work on such pre-conditions and the immediate demand during therapeutic sessions can substantially reduce therapeutic success.

The autotherapeutic capacities of the Innsbruck Sensorimotor Activator and Regulators (ISMARs), used in the relaxed setting of rest or sleep, can make these devices valuable instruments to complement oral-therapeutic efforts, especially in times of limited finances and time for therapy.

Used nocturnally after a period of adaptation, just as the classical orthodontic devices of Andresen-Haeupl and Fraenkel, a combination of which ISMARs are based on, they can teach oral key functions such as ‘mobile stability’ of the lower jaw and, hence, the hyoid bone. This makes improvements in lip and tongue posture and movements more likely and will have an impact on velar and pharyngeal functions. Free nasal airways are the essential prerequisite. ISMARs are used from age 5 years upwards with no upper age limit.

Handwriting difficulties in children: some theoretical and practical issues

S HENDERSON

University of Leeds, Huntingdon, Leeds, UK

Handwriting is a complex skill involving a wide range of cognitive, linguistic, and perceptual-motor skills. It is the recording on paper of thoughts expressed through language, and writing systems vary according to the language used. Children do not simply learn the conventions of their writing system automatically as if they were learning to run or hop; the required movements have to be taught in a well-structured way, from the beginning. Even with expert tuition, however, handwriting is a skill which takes time and effort to perfect. Among children who find this skill exceptionally difficult to acquire, there are some with labels, e.g. developmental coordination disorder (or dyspraxia), attention-deficit- hyperactivity disorder, dyslexia, specific language impairment, autistic spectrum disorders, and others besides. Whatever their origins, however, such difficulties not only affect academic attainment but may also affect self-esteem and emotional well- being.

Children with handwriting difficulties are seen by professionals from many different disciplines – each with their own perspective on the problem. In this paper, I will discuss some of the theoretical and practical problems to be solved if we are to provide adequate services for such children. To achieve this, I will draw on data from four projects: a survey of handwriting teaching in schools in the UK; an evaluation of parent satisfaction with a physiotherapy service-provider; the development of a standardized handwriting speed test for children aged 11 to 16 years; and a study designed to examine interactions between motor and attentional difficulties in the production of written language.

Management of regulatory difficulties and motor disturbance in infants with neurological dysfunction

B HUTCHON(A). M HADDERS-ALGRA(B)

a Royal Free Hospital and University College London, London, UK; b University ofGroningen, Groningen, the Netherlands

Early intervention in infants with neurological dysfunction aims at: (1) promotion of social, emotional, intellectual, motor, and physical development; (2) prevention of secondary problems; and (3) support of the family. However, no consensus exists on the best way to achieve these goals. This holds true for young infants being cared for in the hospital, for instance in the neonatal intensive care unit (NICU), but also for older infants cared for at home.

In the NICU environment, intervention varies between stress- reducing programmes, such as Kangaroo Care and Newborn Individualized Developmental Care and Intervention Program (NIDCAP), stimulation, and developmental programmes, including Neurodevelopmental Treatment (NDT), and programmes consisting of a mix of stimulation and stress reduction. The effect of these programmes is heterogeneous, with NIDCAP intervention having the best documented results. Evidence suggests that NIDCAP has a positive effect on the infant’s cognitive development, but not on motor development.

Research shows that infants with moderate to severe regulatory disorder are at a high risk for later perceptual difficulties, language problems, sensory integration dysfunction, and behavioural difficulties in the preschool years. In addition, there is a growing body of literature suggesting that sensitivity to infant behavioural cues is beneficial at a very early age, perhaps implying that there are early intervention benefits to be had. However, most screening and evaluation instruments are limited in their ability to describe the complex behavioural repertoire that newborn infants bring to the world. We know that self-regulation mechanisms are complex and develop as a result of physiological maturation, caregiver responsitivity and the infant’s adaptation to environmental demands. For the parents this requires the ability to read and understand the infant’s needs, and the knowledge, energy, and resources to respond in ways that are helpful.

The neurobehavioural model proposed by Brazelton provides a framework for the understanding of neurobehavioural functioning in young infants. The Neonatal Behavioral Assessment Scale (NBAS) is the most comprehensive examination of neonatal behaviour available and is used in both research and clinical settings throughout the world. Tn this model, infants’ behavioural manifestations of disorganization or loss of selfregulation are indicators of developmental vulnerabilities and sensory thresholds. When the NBAS is administered by a clinician sensitive to the subtleties of a behaviourally disorganized high-risk infant, it cannot only help identify the areas of deficit and guide the clinician in planning intervention, but it can also provide a unique opportunity to support the infant and family and help the parents to read the behavioural cues as meaningful communication.

Intervention is aimed at facilitating prolonged periods of organization, thus decreasing the manifestation of disorganized behaviours while recognizing and reinforcing the infant’s individual self-regulatory style. At the Royal Free Hospital we have a neurodevelopmental follow-up clinic for babies from NICU for up to three years. The purpose is to monitor and evaluate behaviour and development, to support families, to offer anticipatory guidance, and to make appropriate referrals. The presentation will aim to describe the use of the NBAS in our early intervention programme, particularly in the identification and management of irritable infants, and demonstrate through a case study how early intervention may prevent later problems.

Programmes for management of infants with neurological dysfunction in the home environment vary between infant stimulation programmes such as the Portage Program and physiotherapeutical programmes, such as neurodevelopment NDT or Vojta. The principle of infant stimulation programmes is that a trained paraprofessional home visitor uses an individual assessment of the infant to develop short- and long-term objectives for developmentally sequenced behaviours in six areas: infant stimulation, cognition, language, self-help, motor behaviour, and socialization. Various studies indicated that infant stimulation programmes have a beneficial effect on infa\nt development. However, until now it could not be demonstrated that NDT or Vojta have a positive effect on infant motor development. The absence of effect is remarkable as animal research suggests that intervention in early life can have a positive developmental effect. Possibly the absence of beneficial effect of early NDT and Vojta are due to the contents of these therapies, which aims at normalization of motor behaviour and reflex inhibition. Novel concepts on normal and abnormal motor development, such as the neuronal group selection theory, suggest that keywords in early intervention in motor disorders might be variation and stimulation, whilst disregarding the aspect of normality of motor behaviour. Current research aims at testing the efficacy of this approach.

Seizure diagnosis in children with disabilities: experience from the evidence-based Scottish Intercollegiate Guidelines Network

M KIRKPATRICK

Department of Child Health, Ninewells Hospital, Dundee, UK

The objective of the Scottish Intercollegiate Guidelines Network (SIGN) is to improve the quality of health care for patients in Scotland through the use of clinical guidelines that contain recommendations for effective practice based on current evidence.

A multidisciplinary working group is developing a clinical guideline addressing the ‘Diagnosis and Management of Epilepsies in Children and Young People’, and this is to be published later this year.

It is of considerable long-term importance that an accurate diagnosis of epilepsy is made in a child and misdiagnosis of epilepsy appears to be a major problem. Children with disabilities are at a higher risk of epileptic seizures but equally may also present with non-epileptic seizures. Electroencephalograpy plays an important role in refining a clinical diagnosis of epilepsy. However, using this investigation to confirm or refute a diagnosis of epilepsy, particularly in children with a disability, is fraught with difficulty.

Using the SIGN literature appraisal methodology, this presentation will review the evidence available for making a clinical diagnosis of epilepsy and undertaking appropriateinvestigations to arrive, where possible, at a syndromic diagnosis. Children and their parents deserve information and management appropriate to that individual’s particular type of epilepsy rather than to the huge spectrum of epilepsies that exist across childhood.

Computerized training of working memory in children with ADHD

T KLlNGBERG

Karolinska Institute, Stockholm, Sweden

Deficits in working memory (WM) are associated with disturbances of frontal lobe function and affect many other cognitive functions, such as control of attention and reasoning ability. Deficits in WM are also thought to underlie many of the symptoms in attention- deficit-hyperactivity disorder (ADHD). We have, therefore, developed and tested a computerized method for training WM. Children aged between 7 and 12 years with ADHD participated in two studies (Klingberg et al. 2002, Klingberg et al. Forthcoming). Participants were randomly assigned to use either the treatment computer program for training WM or a comparison program. The main outcome measure was the span-board task: a visuo-spatial WM task which was not part of the training programme. For the spanboard task there was a significant treatment effect, both postintervention and at follow- up, three months after training. In addition, there were significant effects for secondaiy outcome tasks measuring verbal WM, response inhibition, and complex reasoning. Parent ratings showed a significant reduction in symptoms of inattention. In a separate study (Olsen et al. 2004) we investigated how WM training affects brain activity. We measured brain activity with functional MRI in 11 healthy adults while they performed a WM task, before and after training. We found that task-related activity increased in frontal and parietal regions as an effect of training. This possibly indicates training-induced plasticity in the neural systems underlying WM.

These studies show the effectiveness of intensive training in improving WM. In addition, training resulted in improved responses inhibition and reasoning and a reduction in inattention symptoms of ADHD.

Evidence base for the treatment of children with primary speech and language impairment

J LAW(A). ZOE GARRETT(B)

a Department of Language and Communication Science, City University; b Social’Science Research Unit, University of London, UK

This presentation will summarize the findings of a recent systematic review and meta-analysis of intervention for children with primary speech and language impairments completed for the Cochrane Collaboration and funded by the Nuffield Foundation. Primary speech and language impairments are those which occur in the absence of any other developmental conditions.

Results will be reported in terms of expressive and receptive phonology, syntax, and vocabulary. In all, 33 trials were identified from the past 30 years’ research, but of these only 13 were sufficiently similar to be combined in a meta-analysis. Results show that there is good evidence for the effectiveness for treatments of phonology and expressive vocabulary, but results are more mixed for interventions for expressive syntax. There is little that can be said at this stage for intervention directed towards improving verbal comprehension.

Results of the studies will be summarised and the research and policy implications of the findings identified.

Autism and autistic spectrum disorders

AS LE COUTHUR

University of Newcastle, Child and Adolescent Mental Health, Newcastle Upon-Tyne, UK

Much progress has been made in the recognition and understanding of autism and autistic spectrum disorders (ASD). This greater awareness has led to pressure for early detection and access to early interventions (NAP-C 2003). There is evidence of the effectiveness of a range of intervention approaches (in particular, educational and behavioural) but no good evidence for the use of one particular intervention or therapy over another. Further, recent systematic reviews have concluded that the standard of experimental research is poor and many unanswered questions remain. It would be unrealistic to assume that any one approach would be appropriate for all affected individuals. Research needs to focus on which treatments work best for which individuals at which stages of development and within which family and social context. Appropriate strategies are needed to evaluate both general and specific interventions for ASD and comorbid disorders. In this presentation I will review some recent intervention studies, concentrating particularly on studies of young children with suspected/definite autism undertaken as part of the UK intervention consortium (Charman et al. 2003). I will consider specific child-focused strategies and early intervention approaches which involve parents, using our own research findings to illustrate the importance of randomized group comparison designs. I will then describe some largely anecdotal reports of clinical improvement in children with ASD using untested treatments and emphasize the importance of systematic scientifically rigorous independent research. There is an urgent need to expand the evidence available to parents and service providers in choosing interventions.

Neurocognitive problems following very preterm birth: are they preventable?

N MARLOW

Queens Medical Centre, University of Nottingham, Nottingham, UK

Preterm birth is frequently followed by a range of adverse neurological and cognitive outcomes, which become more frequent as gestation falls. Recent evidence suggests that these poor outcomes have not diminished over the past 10 years despite advances in perinatal-neonatal intensive care. The origin of these disabilities is unclear and their relationship to quantifiable perinatal factors is difficult to show.

A range of interventions have been proposed based around the style of nursing and parenting in an attempt to reduce the impact of these disabilities, some of which have now been subjected to randomized trials. Results of these trials will be critically assessed and discussed, in particular the long-term outcomes from the Avon Preterm Infant Project and the Infant Health and Development Programme, in the context of early interventions research.

Effective interventions are still required in order to minimize the neurocognitive burden of very preterm birth but, equally, understanding the pathways by which disability develops is required in order to provide theoretical underpinning for future trial methodology.

Outcome and prognosis of non-accidental head injury in infants

RA MINNS

University of Edinburgh, Edinburgh, UK

The average mortality rate for non-accidental head injury (NAHI) in children less than 2 years of age is 20%. The morbidity is considered under the following categories. (1) Developmental and global outcome: 34% with severe disabilities, 25% with moderate disabilities, and a normal neurodevelopmental outcome following NAHI can be expected in approximately 11% of infants. An absence of’catchup’ and a ‘sign free interval’ may be evident in about half of any cohort which apparently recovers completely after a shaking injury but are later, after an interval of 6 months to 5 years, found to have some form of disability. (2) Neurological abnormalities include motor deficits, such as quadriplegia (35%) and hemiplegia (18%), which are the most commonly acquired motor disorders. Cranial nerve deficits have been reported in some 20% of infants at follow-up and the incidence of epilepsy in survivors of NAHI is 30%. (3) Evolution of long-term brain damage results in neuroimaging patterns which include: chronic subdural haematoma; subdural hygroma; ventricular abnormalities; specific cerebral infarction patterns; cerebral atrophy and microcephaly; global slowing of brain growth; malacic and cystic eiic\ephalomalacia; and secondary subdural haemorrhage. (4) Visual disability with blindness occurs in 15% of survivors after non-accidental head injury, and there is some visual impairment in 45%. (5) Cognitive deficits occur in 54% of infants. (6) Incidence of emotional and behavioural sequelae is at least 38%. The re-injury rate may be up to 27% and 7% may have evidence of progressive brain damage.

In summary, 20% of NAHIs are fatal and 59% of infants with NAHI have severe motor deficits, epilepsy, microcephaly, and visual, learning, behavioural, and emotional sequelae.

Emotional abuse and child disability

V PRIOR^sup A^. D GLASER^sup B^

a Institute of Child Health; b Great Ormond Street Hospital, London, UK

Emotional abuse refers to a relationship between the carer and child which is characterized by patterns of non-physical harmful interactions. The interactions may be viewed as abusive even when the carer does not intend to harm the child. Three tiers of concern may alert the observer to the presence of emotional abuse: (1) adult’s difficulties (2) harmful carer-child interactions (ill- treatment) ; and (3) impairments in the child’s health and development.

A model for assessing emotional abuse and neglect will be presented. A classification of harmful carer-child interactions will be discussed. This classification attempts to group together conceptually the many different parental interactions and behaviours which may be viewed as emotionally abusive. It will be argued that such a classification is not only helpful in the identification of emotional abuse and in the efficacy of intervention, but that it may provide some insight into the meaning of the abuse to the carer and the child, and that, in turn, has important implications for treatment.

Given that emotional abuse is defined in terms of harmful carer- child interactions, identification does not depend on child characteristics. Thus, children with a disability need not be disadvantaged in the process of recognizing emotional abuse. It may be, however, that children with a disability are particularly vulnerable to certain categories of harmful carer-child interactions, such as inappropriate developmental expectations. This and other harmful carer-child interactions will be examined with regard to the particular needs and vulnerabilities of children with a disability.

Families affected by childhood visual impairment: promoting participation through the web

J RAVENSCROFT

University of Edinburgh, Edinburgh, UK

Childhood visual impairment has far-reaching effects throughout life. However, in the UK the actual number of children with visual impairment is not known. One thing we do know is that the true number of children with visual impairment in Scotland is significantly more than the number on the official blind and partially sighted register. Yet, it is important to know the real number of children with visual impairment in order to plan services appropriately. The official register was developed to meet the needs of adults of working age who had fallen out of employment because of sight loss. Aspects of the current registration system do not, therefore, meet the needs of children and their education. Based on the needs of parents of visually impaired children, Visual Impairment Scotland (VIS) was set up to meet two complementary aims: (f) To pilot a comprehensive notification system for children with visual impairment and (2) to develop a tailored information and support service. This paper will focus on the second aim of VIS. The development of a support service is aimed to fulfill unmet needs and to encourage and motivate parents and children to become involved in the VIS project. Elements of the support and information service which 1 shall focus on are:

* A virtual web-based club for children with visual impairment called VISKIDS

* A safe and secure internet chat room for VISKIDS members

* The success of the on-line understandable medical information documents

* A web-based parents’ discussion forum

* The development of awebsite (http://www.viscotland. org.uk) to access all these services and to help achieve these aims

The internet has become a powerful tool in that it not only empowers parents with children with visual impairment, and the children themselves, but also promotes ownership of an organization that has developed to meet the needs of the client group it serves.

Role of the cerebellum in language

D RIVA

Institute Nazionale Neurologico CBesta, Milano, Italy

Recent studies have confirmed the role of the cerebellum in processing higher cognitive functions. Congenital cerebellar alterations are frequently observed in children with neurodevelopmental disorders. These anatomical alterations (global or partial vermis hypoplasia or hemispheric hypoplasia) are associated with neuropsychological or developmental disorders that often give rise to various degrees of learning disability with behavioural changes that may even lead to autism.

Studies of normally developing children with acquired cerebellar lesions (tumors or stroke) have made it possible to reveal different neuropsychological profiles depending on the lesion site: vermis lesions are related to behavioural and verbal production alterations, whereas those affecting the cerebellar hemispheres are associated with patterns of side-specific cognitive dysfunctions

The children with right cerebellar tumours presented with disturbances of auditory sequential memory and language processing whereas those with left cerebellar tumours showed deficits on tests of spatial and visual sequential memory.

The vermal lesions led to two profiles: (1) post-surgical mutism, which could be subdivided into speech disorders (even to the extent of anarthria) and language disturbances similar to agrammatism; and (2) behavioural disturbances ranging from irritability to behaviours reminiscent of autism.

Antenatal glucocorticoid programming of the brain

JR SECKL

University of Edinburgh, Edinburgh, UK

Epidemiological evidence suggests that adverse events in foetal life permanently alter the structure and physiology in adult life, a phenomenon called ‘foetal programming’. Low weight or thinness at birth is associated with an increased risk of cardiovascular, metabolic, and neuroendocrine disorders in adult life. Glucocorticoid (GC) administration during pregnancy is well- documented to reduce birthweight and alter the maturation of organs. A decade ago we hypothesized that prenatal exposure to excess GCs or stress might represent a mechanism linking foetal growth with adult pathophysiology. In addressing this we found that in rats birthweight is reduced following prenatal exposure to the synthetic GC clexamethasone, which readily crosses the placenta, or to carbenoxolone which inhibits 11-hydroxysteroid dehydrogenase type 2 (11-HSD2) which is the physiological foeto-placental ‘barrier’ to the higher levels of GCs in the maternal circulation. Whilst the infants regain the weight deficit by weaning, as adults they exhibit permanent hypertension, hyperglycaemia, increased hypothalamic- pituitary-adrenal (HPA) axis activity, and anxious behaviour. Physiological variations in placental 11-HSD2 activity near term correlate directly with foetal weight. The critical ‘window’ for GC programming appears to be the last trimester of gestation. In humans, 11-HSD2 gene mutations cause low birthweight and several studies show reduced placental 11-HSD2 activity in association with intrauterine growth retardation. Interestingly, stress or psychiatric disorders in pregnancy reduce foetal growth and gestation length. Moreover, low birthweight infants have higher plasma cortisol levels throughout adult life, indicating HPA axis programming. Data are also emerging that suggest low birthweight correlates with affective disorders in later life. Molecular mechanisms may reflect permanent changes in the expression of specific transcription factors, key amongst which is the glucocorticoid receptor (GR) itself. The differential programming of GR in different tissues reflects effects upon one or more of the multiple tissuespecific alternate first exons/promoters of the GR gene. Overall, data suggest that both pharmacological and physiological exposure prenatally to excess GCs programmes cardiovascular, metabolic, and neuroendocrine pathologies in adult life.

Verbal dyspraxia and other speech production disorders: where are the diagnostic boundaries?

LD SHRlBERG

University of Wisconsin-Madison, Madison, USA

Converging evidence supports the likelihood of etiological subtypes within childhood speech-sound disorders (SSD) of currently unknown origin. This presentation will review selected research issues that are central to an eventual explanatory account for one proposed etiological subtype of SSD: verbal dyspraxia.

Verbal dyspraxia (also termed childhood apraxia of speech) is a putative clinical entity of notable recent interest to both clinicians and researchers. From a clinical perspective, verbal dyspraxia appears to be overdiagnosed in young children who have delayed onset of speech, atypical speech, and prosodyvoice characteristics, and/or severe and persistent speech disorder. From a research perspective, the array of genetic, neuroanatomical, and other findings from studies of the KE family (a family in whom half the members have a speech-language disorder associated with a mutation of theFOXP2 gene) has infused research in a number of sciences and applied disciplines, including speech-language pathology.

A complex disorder framework will be presented that posits seven etiological subtypes of SSD associated primarily with (1) genetic transmission, (2) early recurrent otitis media with effusion, (3) verbal dyspraxia, (4) dysarthria, (5) psychosocial involvement, and (6) phonological attunement (two subtypes). We will briefly consider some epidemiologic and diagnostic marker findings supporting the hy\pothesis of alternative distal and proximal origins of selected subtypes. Preliminary findings from two members of a family who have a balanced de novo translocation and suspected verbal dyspraxia will be compared with the speech-prosody phenotype reported for affected members of the KE family. Summative comments will address diagnostic assessment and phenotype marker issues, including findings from a preliminary study using automatic speech recognition.

Eco-developmental approaches to intervention in children with developmental coordination disorder

DA SUGDIiN

University of Leeds, Leeds, UK

This presentation emphasizes that effective intervention is multifaceted and multilayered; it is not confined to a single principle or method within one experimental or clinical framework. It draws together knowledge of the developing child and how movements are controlled and learned from a dynamical systems perspective, and is firmly set within the everyday life of the child and the family context.

Data are presented from a longitudinal study which involved 31 children with developmental coordination disorder who were being followed for a period of four years. For part of the time the children had intervention from both teachers and their parents who, in turn, had advice and guidance from professionals. Each child was monitored and assessed for progress in motor and other educational achievements over the period. Profiles of individual children are presented and the results are encouraging. Many children improved following intervention and this improvement stayed with them after the intervention period and throughout the four year period. Others improved but only during the intervention phase, while a very small number showed little improvement. Associated difficulties and overlap for clinical work involving schools and parents are discussed alongside the role of health professionals. The study also raises methodological and analysis issues which, with other data, can generate a debate on the nature of the disorder

Nutrition and gastrointestinal dysmotility in children with neurodevelopmental disabilities

DC WILSON

Child Life and Health, University of Edinburgh, Edinburgh, UK

Correction of malnutrition (undernutrition and obesity) is vital in children with neurodevelopmental disabilities. Our approach is based in the setting of a multidisciplinary nutritional support team (NST), and includes nutritional assessment and provision of appropriate nutritional support. Nutritional support can range from energy boosting in the diet through oral calorie supplements to enterai tube feeding. Of the 220 children in south-east Scotland currently managed by our regional paediatric NST due to their need for home enterai tube feeding (HETF), over 60% are children with neurodevelopmental disabilities. The majority are fed by nasogastric tube in the short term and gastrostomy tube in the longer term. Although we frequently assess and encourage oral feeding, many remain dependent on HETF (daytime bolus and/or overnight continuous feeding regimens) in the long term. There is a very limited evidence base on nutrition support in these circumstances. Obesity is emerging as a difficult, and sometimes intractable, problem for ambulatory children with neurodevelopmental disabilities.

Gastrointestinal dysmotility is common in children with neurodevelopmental disabilities. It is commonly recognized as gastro- oesophageal reflux and constipation, but may also include gastroparesis (causing early satiety and limitation of intake), and duodeno-gastric reflux (causing bilious vomiting). The cause is damage to the enteric nervous system, and this may become a progressive problem with time and complicate nutritional therapy. The reverse peristalsis from the duodenum and stomach may be resistant to medication, and make fundoplication a high risk procedure with increased chance of complications and a poor outcome. Our practice is to use transgastric jejunal feeding tubes, with gastric ports for aspiration and drug administration in these circumstances.

Working with children and young people with disabilities to meet their information needs

SA YOUNG

Royal Hospital for Sick Children, Edinburgh, UK

Each year, Quentin Blake, the children’s book illustrator and former Children’s Laureate, makes a financial donation to an organization funded by the Roald Dahl Foundation. In 2000 the Special Needs Information Point (SNIP) won this award to take forward two pieces of work with children and young people: (1) A quarterly comic for children and (2) a leaflet about SNIP for young people.

We were clear that we wanted to involve children and young people in both of these developments and today I want to explain the processes we went through, the outcomes, and the subsequent developments.

The Comic. We sent out a questionnaire with our monthly newsletter to parents of children with disabilities, asking their children to let us know what they would like the comic to contain, what sort of layout they would prefer, and ran competitions to name the comic and the logo, which Quentin Blake kindly designed for us. We launched the comic at a party attended by over 50 children and their parents. A magician gave his services free of charge and our Patron, TV presenter Kaye Adams came along too to present the winners with their prizes. The comic is named KidsZone and the logo is ‘Bird Brain’.

The Leaflet. We worked with a group of young people with disabilities from the local Fabb Club to produce a leaflet. This involved brain-storming to find out what sort of information they felt they would like to get from our service and then using their ideas and designs for the leaflet. They told us they would like to contact us by texting, so we bought a mobile phone.

The comic is now produced by a young person with a disability. The National Information Forum recognized the leaflet as an example of excellence last year at a ceremony in London.

Copyright Mac Keith Press Oct 2004