Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.

In the present study we hypothesized that the self-injurious behavior (SIB) of a 12-year-old male diagnosed as having autism and severe mental retardation was maintained by automatic reinforcement. Further, we hypothesized SIB served a sensory reinforcement function related to sensation at the skin surface. The participant engaged in high rates of SIB in the form of self-slapping. A functional analysis resulted in undifferentiated findings. Additional observations indicated that SIB occurred only to exposed skin surfaces. To test for a sensory function, we applied a topical anesthetic to the participant's skin. SIB was reduced by 20 to 60% after application of the dermal anesthetic. These results support an automatic reinforcement hypothesis. Implications for treatment are discussed.

Foreword 2

Members of the Organizing Committee 3

Keynote Speakers 4

Invited Speakers 21

Posters 48

Index 56

Folate was first isolated in an unknown form in 1941. The pharmaceutical form of folate is folic acid (pteroylglutamic acid). The major source of folate in the USA is food, with primary sources being grain products, especially fortified cereals, citrus fruits, and dried beans and lentils. However, the estimation of dietary intake of folate by food tables may not reflect actual intake because naturally occurring folate in the diet may be rendered inactive by cooking and food processing.

‘Low doses of pamidronate to treat osteopenia in children with severe cerebral palsy: a pilot study’ Plotkin et al. DMCN Vol 48: 709–712

We would like to correct an error that was printed in the above mentioned article: p 711: The sentence ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mg/dl respectively.’ should have read: ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mmol/l respectively.’

We sincerely apologize for this error.

To investigate the relationship between the presence of language disorder, type of epilepsy, and epileptic seizures in childhood, language levels, types of language impairment, and aetiologies were examined in 109 children, aged between 5 and 17 years, attending a national children's epilepsy assessment unit over a 4-year period. There were 70 males and 39 females. Median age was 11 years 4 months (range 5 to 18 years 9 months). In addition to neurological assessment, simultaneous video and EEG monitoring and prolonged ambulatory EEG, each child underwent a comprehensive series of multidisciplinary tests, including intelligence, language, and communication assessments. Classification of seizures and epilepsy syndromes was agreed in conference by a physician specializing in childhood epilepsies, a paediatric neurologist, and a neuropsychiatrist. Other test procedures were administered by a speech and language pathologist with assistance from a neuropsychologist when relevant. Level of language disability in these children was associated with a range of aetiological factors. Evidence was found of a significant number of associations between focal epilepsies, certain seizure types, and language disorder. Of the 46 (42.2%) children with language disorders in the research sample, 30 had localization-related epilepsies and a further three had epilepsies which were undetermined as to whether focal or generalized. Children with focal epilepsies were 30% more likely to have language disorder than other language disability subtypes. The research demonstrated a clear though often subtle association between focal (localization-related) epilepsy and language disorder, indicating an increased risk in this patient group. Children with simple or complex partial seizures were more likely to have language disorder than other language disability subtypes; they also tended to have the lowest number of seizure types per case. This is of importance to clinicians managing children with epilepsy and has implications for their educational and social welfare.

Orthotics and physical therapy are offered to children with myelomeningocele, often without objective evidence of efficacy. Bracing of the lower limbs in children with myelomeningocele can be categorized into three groups based on the degree and extent of muscle weakness. Children with lesions at the thoracic and upper-lumbar level lack strength in hip extensors, hip abductors, knee flexors, knee extensors, ankle plantarflexors, and ankle dorsiflexors. They require the support of an orthosis such as a parapodium (standing frame), parawalker, reciprocating gait orthosis, or hip-knee-ankle-foot orthosis. Children with a low-lumbar level of paralysis lack strength in hip extensors, ankle plantarflexors, and ankle dorsiflexors and may need a solid ankle–foot orthosis to stabilize the ankle and assist knee extension in the stance phase of gait. Children with lesions at the sacral level either need no bracing or may need a foot orthosis to compensate for weak intrinsic foot muscles.

In the current practice of physical therapy for children with chronic physical disabilities, more and more attention is paid to parental participation. In the past, physical therapy was mainly impairment oriented, with supposed effects on the daily functioning of the child. It was the exclusive domain of therapists and physicians. Parents were usually not involved in the therapy for their children. It was not until recently that physical therapists became more aware of the possible role of parents. In the early 1980s an important development in this area started. The role of parents changed from a passive one into an active participating one. Parents became a sort of co-therapist, meaning that while therapists decided on the treatment goals and methods, parents were expected to perform the treatment activities at home in cooperation with the treatment activities of the therapist in the clinic. Since then, the discussion about the optimal role of parents in the physical therapy of their children has continued. This discussion has resulted in the current belief that parents should be actively involved, and should be working with therapists as equal partners in deciding the goals and content of the physical therapy for their children.

A diagnosis of 22q.11 deletion syndrome (del22q.11) in a child brings with it a plethora of uncertainty in terms of developmental and neuropsychiatric prognosis. This relatively common genetic disorder has a highly variable phenotype with a multitude of potential physical features including palatal anomalies, congenital heart defects, facial dysmorphism, immunodeficiency, and hypoparathyroidism. As a result, patients may present in paediatric, cleft lip/palate, psychiatric, or antenatal clinics. It is necessary, therefore, that the multidisciplinary team are aware of this diagnosis. The overall clinical phenotype ranges from subtle isolated findings to severe multisystem involvement, even in the same family. The neurobehavioural phenotype is also highly variable. The spectrum of developmental delay, learning difficulties, behavioural problems, speech and language deficits, and psychiatric disorders seen in del22q.11 is well recognized. The implications for parents, medical professionals, educational staff and, indeed, the patients are significant. Thus, better understanding of the cognitive and behavioural problems could lead to the development of effective, targeted interventions and improved management.

The objective of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) Evidence Reports is to provide the biomedical research and clinical practice communities with the current state of evidence about various interventions for the management of developmental disabilities. The AACPDM evidence reports aggregate all that has been published about outcomes of an intervention for a medical condition, gauge the credibility (i.e. strength of the internal validity) of that evidence, and identify gaps in our scientific knowledge. Methodology for developing and procedures for approving these systematic reviews can be found on the internet at www.aacpdm.org in the AACPDM Database of Evidence Reports which contains initial and updated reports.

The aim of this study was to evaluate the effect of electrical stimulation (ES) on the function of the upper extremities in children with cerebral palsy (CP). The participants were 12 children (seven females and five males) with spastic hemiplegia (mean age 5 years 7 months, SD 3 years 9 months). Indications were weak wrist dorsiflexion and elbow extension. The ES was given at sensory level (20–40 minutes) on the infraspinatus muscle and on the wrist dorsiflexors during 12 regularly scheduled physical and occupational therapy sessions (during 4–5 weeks). The Goal Attainment Scale, the Zancolli classification of hand function, muscle testing according to Daniels and Worthington, and King hypertonicity scale were used for evaluation. Assessments were made twice before (between 4 weeks) and twice after (between 12 weeks) the stimulation period except the King hypertonicity scale, which was used once before and 3 months after the stimulation period. Active elbow extension, wrist dorsiflexion, and forearm supination with the elbow flexed and extended improved when the results of assessments before ES were compared with those made immediately before (p<0.001) and three months after (p<0.01) this treatment. Results of this pilot uncontrolled study suggest that ES at sensory level can be used as an adjunct to physiotherapy and/or occupational therapy in children with spastic hemiplegia. These results will be used as basis for further research.

This study examined the auditory status of females with Rett syndrome (RS) using auditory brainstem response (ABR) testing and measures of acoustic admittance. Prevalence of hearing impairment in 81 female patients (age range 1 year 3 months to 39 years 8 months; mean age 8 years 7 months, SD 6 years 4 months) was evaluated with ABR measurements. If the ABR latencies at 20dB nHL exceeded those of the normative group, a slight hearing loss was diagnosed. For ABR thresholds in the range 30 to 40dB nHL, a mild hearing loss was determined; moderate hearing loss was diagnosed for ABR thresholds in the range 50 to 60dB nHL. Bilateral hearing loss was found in 16 (19.3%) patients and unilateral hearing loss in 13 (16%) patients. Bilateral hearing loss of moderate degree was found in one patient. No patient was found with severe hearing loss (ABR threshold of 70dB nHL and above) in either ear. Slight hearing loss was found in 10.5% of ears (17 of 162), mild hearing loss in 14.2% of ears(23 of 162), and moderate hearing loss in 3.1% of ears (5 of 162). In 72.2% of ears (117 of 162), findings indicated the presence of normal peripheral auditory sensitivity. Prevalence of sensorineural hearing loss was 17.3% (28 of 162). Evidence of conductive involvement (conductive and mixed hearing loss) was observed in 9.9% of ears (16 of 162). In this cross-sectional study, the prevalence of hearing loss was increased in older RS participants and in those with seizures requiring the use of anticonvulsants. Neither the type of hearing loss nor the presence of preserved speech seemed to be correlated with the type of mutation in methyl-CpG-binding protein 2 (MeCP2) gene that is associated with RS.

Two male patients (a child and an adult) with congenital mirror movement were studied using functional MRI (fMRI) and transcranial magnetic stimulation (TMS). Bilateral primary sensorimotor cortices were activated during unilateral hand gripping on fMRI when the child patient was 8 years old and the adult was 37 years old. Bilateral motor evoked potentials were induced from the hand and forearm muscles after TMS of each hemisphere. Bilateral motor responses were also induced from the arm muscles in the adult patient. Bilateral motor responses had short and similar latencies. Contralateral motor responses to TMS were smaller than ipsilateral ones in the hand muscles, while contralateral responses were larger than ipsilateral ones in the arm muscles. Contralateral hand motor responses reduced in amplitude or disappeared with increasing age while in the child patient, mirror movements decreased gradually. Our results suggest that bilateral activation of the primary sensorimotor cortices during intended unilateral hand movement and bilateral motor responses to TMS account, at least in part, for the pathophysiology of congenital mirror movement. Reduction of contralateral hand motor responses may be related to the decrease in mirror movements during development.

Fibromuscular dysplasia (FMD) is a systemic arteriopathy which tends to affect renal arteries followed by cervicocranial vessels. It can lead to cerebral infarction if cephalic arteries are involved. FMD is an unusual cause of stroke in childhood that generally affects the carotid area. Only four cases of vertebral FMD and subsequent stroke have been reported previously and we present the youngest patient of all. A healthy 3-year-old female was admitted to Hospital Doce de Octubre in Madrid, Spain with cerebellar infarction. Angiography disclosed basilar artery thrombosis and typical signs of FMD in both vertebral arteries. No other angiographic alteration was noted in the other vessels studied. Her phenotype and other investigations were unremarkable. The patient was treated with anti-aggregation therapy (aspirin) and the outcome was excellent. Investigation of the occurrence in childhood of this kind of arteriopathy may lead to clarification of its natural history and speculation about its unclear pathogenesis.