Duchenne muscular dystrophy is the most common life-limiting muscle disorder of childhood. Survival has improved, largely due to more effective orthopaedic and respiratory management. However, abnormal cardiac muscle function (cardiomyopathy) develops in most patients by the age of 18 years and can cause heart failure, leading to 10–40% of deaths. This percentage may be increasing as management of the respiratory complications becomes more successful. As a result, in 2003 a European group recommended an ECG and echocardiogram at diagnosis, then every 2 years until the age of 10, and annually thereafter. If progressive abnormalities occurred they recommended treatment with angiotensin-converting enzymes (ACE) inhibitors and, if needed, beta-blockers. They commented that there was no evidence behind these recommendations and called for multicentre trials. At the end of 2005, the Cardiology section of the American Academy of Pediatrics published similar recommendations and commented on the minimal evidence base. However, as shown by the review article by English and Gibbs in this issue, not all cardiologists agree with these guidelines.

Neurological lesions that cause dyskinetic cerebral palsy (CP) commonly involve ocular movements. This report describes a group of 14 children (nine males, five females) whose CP is associated with severe dyskinetic eye movements. Ages ranged from 4 months to 13 years (mean 6.9 years). Clinical features of this eye movement disorder are discussed and defined. The visual function of these children is slow, variable, and highly inefficient. They are often misdiagnosed as blind, due to cortical visual impairment. Early recognition of dyskinetic eye moment disorder and appropriate developmental and educational management are important.

The aim of this study was to follow-up prospectively a cohort of preschool children originally recruited from successive referrals to speech and language therapy community clinics and to investigate their linguistic, literacy, and social outcomes at 7 to 10 years of age. Three hundred and fifty children aged 84 to 113 months (mean age 99.9mo [SD 5.4mo]) were singletons from monolingual backgrounds where there was concern about their speech and language development. Children who had severe learning difficulties, autism, oromotor deficits, dysfluency, or dysphonia were excluded. Altogether 196 (56%), 134 males and 62 females, were seen at follow-up. A control group of children who had never been referred for speech and language therapy, 57% of whom were males, was also recruited (n=94; mean age 104.4mo [SD 6.8mo]). All children were assessed on standardized measures of speech, language, and literacy. Teachers and parents completed questionnaires on educational and social outcomes. In total, 139 children in the cohort were within the normal range on standardized language assessments. About 30% of the original cohort of children continue to struggle with language, literacy, and social difficulties. The study demonstrates the long-term nature of language impairment and reinforces the need for awareness among professionals in child development and education of the ongoing needs of this population of children.

As infants with bronchopulmonary dysplasia (BPD) have difficulty maintaining adequate levels of oxygenation during rest, it was decided to investigate how the additional respiratory demands associated with nutritive feeding disrupt their breathing rates. The sucking and breathing patterns of six (three male, three female) preterm infants (between 23 and 29 weeks gestational age at birth), classified as having BPD were individually compared with the patterns observed in 12 (six male, six female) healthy term (control) infants ([ges ]38 weeks gestational age at birth) with no known respiratory ailments. All infants were recruited from the neonatal unit at Simpson's Maternity Pavilion, Edinburgh, Scotland. In general, the breathing patterns recorded for the infants with BPD during the pause periods of intermittent feeding lacked the striking regularity observed in the term infants. It was found that the severity of the BPD affected breathing rates by significantly reducing the duration and the regularity of a breath (P<0.05) while sucking during the intermittent phase of feeding.

The purpose of this article is to demonstrate: (1) the accuracy and (2) the reduction in amount of time and effort in assessing physical functioning (self-care and mobility domains) of children and adolescents using computer-adaptive testing (CAT). A CAT algorithm selects questions directly tailored to the child's ability level, based on previous responses. Using a CAT algorithm, a simulation study was used to determine the number of items necessary to approximate the score of a full-length assessment. We built simulated CAT (5-, 10-, 15-, and 20-item versions) for self-care and mobility domains and tested their accuracy in a normative sample (n=373; 190 males, 183 females; mean age 6y 11mo [SD 4y 2m], range 4mo to 14y 11mo) and a sample of children and adolescents with Pompe disease (n=26; 21 males, 5 females; mean age 6y 1mo [SD 3y 10mo], range 5mo to 14y 10mo). Results indicated that comparable score estimates (based on computer simulations) to the full-length tests can be achieved in a 20-item CAT version for all age ranges and for normative and clinical samples. No more than 13 to 16% of the items in the full-length tests were needed for any one administration. These results support further consideration of using CAT programs for accurate and efficient clinical assessments of physical functioning.

In order to classify attention-deficit–hyperactivity disorder (ADHD) in 11-year-old children, the role of specific attentional and motor deficits was examined. Participants comprised 22 children with ADHD (19 male, 3 female; median age 11 years, range 8.8 to 13.5 years) and 20 control children (17 male, 3 female; median age 10.6 years, range 8.2 to 12.6 years). Neuromotor assessment indicated that while both groups needed more time to complete finger compared to hand movements, this increase was more pronounced in children with ADHD. Reaction-time testing with continuous-force recording identified both motor and attentional deficits in children with ADHD. Longer intervals between force onset and force peak, and higher rate of responses with multiple force peaks (particularly in the bilateral condition) revealed specific deficits in the speed and quality of their motor output. Increase in errors and variability of force onsets indicated attentional deficits. Prediction analysis indicated that force-onset variability contributed significantly to group classification which was 85.7% correct. Neither neuromotor assessment nor specific motor deficits contributed significantly to classification, indicating that pure motor-speed measures play a minor role in characterizing ADHD in this age range.

Significant educational delays, even in the absence of cognitive-processing deficits, can be attributed to the inability to sustain attention. The relation between dyslexia and attention deficits is well established. Although research on the relation between dyscalculia and attention deficits is limited, evidence is mounting for a pivotal relation between these two disorders. Indeed, attention deficits may be more strongly associated with dyscalculia than with dyslexia.

A non-contact communication system was developed for a ventilator-assisted patient with Werdnig–Hoffmann disease who had lost all voluntary movements except for those of the eye. The system detects the extraocular movements and converts them to either a ‘yes’ signal (produced by one lateral eyeball movement) or a ‘no’ signal (produced by two successive lateral eyeball movements) using a video camera placed outside the patient's visual field. The patient is thus able to concentrate on performing a task without any intrusion from the detection system. Once the setting conditions of the device have been selected, there is no need for any resetting, as the patient is unable to move his body. In addition to playing television games, the child can use the device to select television channels, compose music, and learn written Japanese and Chinese characters. This seems to broaden the patient's daily world and promote mental development.

The aim of this study was to describe post-streptococcal movement disorders that form part of the acute rheumatic fever complex. The clinical records of patients diagnosed with Sydenham's chorea were analyzed retrospectively to investigate epidemiology, the significance of socioeconomic deprivation, clinical manifestations, treatments, outcomes, long-term morbidity, and disease evolution. Forty-two patients (21 males, 21 females) were diagnosed with Sydenham's chorea. The median presentation age was 9 years 8 months (range 3y 5mo to 13y 2mo). Nineteen patients were of indigenous African ancestry; 23 were of mixed ancestry. All patients lived in poverty and had poor access to medical care. Twelve of the total group had disabling symptoms for longer than 2 years; six of these patients developed paediatric autoimmune neuropsychiatric disorder associated with Streptococcus (Paediatric autoimmune neuropsychiatric disorder associated with Streptococcus [PANDAS]), five Tourette syndrome (TS), and one learning difficulties. Poor outcome was significantly more prevalent in patients of mixed ancestry, in those with a positive family history, previous behavioural problems, or a failure to complete 10 days of penicillin and ‘bed-rest’/hospitalization. Sydenham's chorea is one manifestation of post-streptococcal neuropsychiatric movement disorders. This study demonstrates that patients can present with one diagnosis and evolve other neuropsychiatric conditions such as TS and PANDAS. In the South African context, it is important to delineate neuropsychiatric movement disorders associated with streptococcal infections. The potential genetic susceptibility should be explored.

This study investigated the adaptive gait pattern in obstacle clearance in 12 normally developing (ND) children (six males, six females; mean age 10y 2mo, SD 10mo) and 12 children who had spastic diplegic cerebral palsy (CP) and who were independent ambulators (10 males, two females; mean age 13y 5mo, SD 2y 7mo). Children in both groups had 8 to 12 years of walking experience. They walked up to and crossed over obstacles of a height of 0%, 10%, and 20% of their leg length. Kinematic aspects of the three-dimensional leg movements were captured with the Vicon system and analyzed with one-way analysis of variance with repeated measure. Both groups increased foot clearance for higher obstacles. Children with CP were slower in approach and crossing speed, and used a wider base of support than the ND children when the obstacle height was increased. Results suggest that motor problems in obstacle clearance in children with CP lie in the implicit process of motor control, i.e. torque dynamics, not the explicit process, i.e. movement-match with the environmental constraints.

The possible causes of excessive swallowing of air leading to bloating, which is common in Rett syndrome (RS), were investigated during feeding and at rest. Seven individuals with RS aged between 4 and 33 years (three with air bloat) underwent feeding videoflouroscopy and concurrent respiration monitoring. The results were compared with a randomly selected group of 11 individuals, aged between 2 and 16 years, with quadriplegic cerebral palsy and feeding problems, some of whom had mild air bloat. All individuals from both groups had isolated pharyngeal swallows and several mouth breathed; this may account for some air swallowing but not the severe air bloat characteristic of RS. Thirty-three individuals with RS aged between 3 and 44 years were monitored for nasal respiration, chest movements, swallowing, and vocal cord position at rest (between feeding). Twenty had air bloat, 17 of whom swallowed air during breath-holding in the same way, and three gulped air during hyperventilation. Of the 13 without air bloat, eight did not have recurrent breath-holding and five did, but without concurrent air swallowing. Several methods for reducing air swallowing in apnoea were investigated. The most successful was a dummy with an air leak, but this was poorly tolerated and could only be used for short periods of time. Apnoeas and air bloat are often worse when individuals are distressed and may in some individuals be reduced by anxiolytic medications.

The aims of this study were to determine the relation between gait kinematics (center of mass excursions) and measures of oxygen consumption and oxygen cost. Fourteen independent ambulating children with myelomeningocele (nine females, five males; mean age 8 years 7 months) and thirteen children with no history of neuromuscular disorder were evaluated. At their comfortable walking speed all patients exhibited oxygen cost and oxygen consumption values that exceeded the normal level by more than 1 SD. Pelvic obliquity demonstrated the strongest relation with oxygen cost which suggests that ultimately hip abductor strength may play a key role in energy demands during gait. Despite the exaggerated pelvic kinematics, vertical and horizontal center of mass excursions of the trunk and whole-body during the gait cycle were not significantly greater than normal (p>0.05). Decreased self-selected walking velocity at which many of these children consider comfortable and stable may be predicated on an optimal center of mass movement that approximates the magnitude observed in normal gait. The slower walking velocity decreases walking efficiency. Conversely, the increased center of mass movement that would accompany a faster gait would probably impose intolerable oxygen consumption levels. Strengthening programs that focus on the gluteus medius and maximus to decrease compensatory trunk and pelvic motions, allowing the patients to adopt a faster gait without exacerbating kinematic and center of mass motions and which enabled more efficient walking hold promise for these patients.

In this investigation of 45 children born to mothers with hypertension in pregnancy, our objective was to examine the role of a fetal risk factor (suboptimal intrauterine growth [SOIUG]) in determining developmental outcome. There were two groups of children: Group 1 (n=26; 10 males, 16 females; mean testing age 56.77 mo [SD 13.03], range 41–82 mo; mean gestational age 32.96 wks [SD 2.24], range 27–38 wks; mean birthweight 1984.42g [SD 563], range 1046–3515g) without, and Group 2 (n=19; 6 males, 13 females; mean testing age 57.63 mo [SD 14.86], range 40–84 mo; mean gestational age 34.21 wks [SD 2.10], range 29–39 wks, mean birthweight 1572g [SD 365], range 855–2690g) with SOIUG. We found that SOIUG was associated with a significant reduction in cognitive and motor skills (p<0.05). Visuospatial (p<0.01) as well as motor skills (p<0.001) were linearly associated with the extent of intrauterine growth deficit when the latter was treated as a continuous variable. To conclude, an increase in intrauterine growth deficit is accompanied by a proportionate decline in quality of developmental outcome in children born to mothers with hypertension in pregnancy.

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1α subunit of the complex (PDHA1). Mutations in the genes for the other subunits have all been described, but only dihydrolipoamide dehydrogenase (E3) and E3 binding protein (E3BP) defects contribute significantly to the total number of patients with PDH deficiency. Although previously considered rare, with only 13 reported cases, we have found that mutations in PDX1, the gene for the E3 binding protein, are in fact relatively common. Clinical, biochemical, and genetic features of six new patients (four males, two females; age range 15mo–6y) with mutations in this gene are compared with previously reported cases. All patients with E3BP deficiency identified to date have mutations which completely prevent synthesis of the protein product. However, they are generally less severely affected than patients with PDHA1 mutations, although there is considerable overlap in clinical and neuroradiological features.

The aim of the study was to examine the predictive value of the variables of parental assessment score, pre-, peri-, and postpartum optimality, sex, socioeconomic status (SES), and maternal education with respect to developmental delay at 18 months, and intellectual disability and school achievement problems at 8 and 14 years. The sample studied comprised 101 children (53 low scorers and 48 controls) originally from a total population of 2783 children assessed by their parents at 18 months using a screening instrument. Data were analysed by logistic regression. The results yielded moderate but statistically significant correlations between predictor and outcome variables. Optimality score and maternal education were the best predictors of developmental delay at 18 months. At 8 years, parental assessment score and maternal education constituted the best predictors of school achievement problems. At 14 years, SES together with parental assessment score were included in the model, when school achievement problems were predicted. Parental assessment score showed the strongest association with school achievement problems at both 8 and 14 years, when children with intellectual disability were included in the analysis. The exclusion of children with intellectual disability from the analyses yielded a stronger association between maternal education (at 8 years) and SES (at 14 years) and school achievement problems. The overall classification accuracy of the models varied between 67% and 88%. Specificity varied from 65% at 18 months to 95% at 14 years. Sensitivity varied from 70% at 18 months and 55% (all cases) and 42% (children with intellectual disability excluded) at 14 years.

Predictive validity and clinical implications of the increasingly popular Bayley Infant Neurodevelopmental Screener (BINS) risk status classifications have not been previously reported. In this longitudinal follow-up study, the BINS was administered to high-risk infants at 6, 12, and 24 months of age, and the McCarthy Scales at 3 years of age. Ninety-two children were evaluated at 6 and 36 months, 105 at 12 and 36 months, and 118 at 24 and 36 months; 190, 125, and 140 infants were included in the comparisons at 6 to 12, 6 to 24, and 12 to 24 months. BINS risk status was classified as low, moderate, or high; or as a binary variable, LOWRISK/HIGHRISK. The three BINS items groups were moderately correlated. Consistency was most variable in the moderate-risk group. BINS risk was predictive of 36-month function in 18 out of 18 comparisons. Odds ratios, ranging from 2.76 to 54.70, were significant in 15 out of 18 logistic models. An early high-risk classification was associated with increased probability of later developmental morbidity. The BINS offers an alternative to detailed assessment in high-volume clinical applications and has good concurrent and predictive validity.

In this pilot study we investigated the feasibility of The Infant Behavioral Assessment and Intervention Program (IBAIP) in a group of preterm infants. At the age of 6 months, the neurobehavioural organization and self-regulatory competence of an intervention group was compared with a control group who had received the standard follow-up care. The intervention group consisted of 13 males and seven females (mean gestational age [GA] 29.2 weeks, SD1.3wks; mean birthweight 1232g, SD320g). The control group consisted of 11 males and nine females (mean GA 29wks, SD1.6wks; mean birthweight 1198g, SD397g). Inclusion criteria were: a GA of 32 weeks and family residence in the district of Amsterdam. Exclusion criteria were: severe congenital abnormalities, intraventricular haemorrhage grade III or IV, periventricular leukomalacia grade III or IV, and infants whose mothers had a history of illicit drug use. The intervention infants received 6 to 8 IBAIP interventions at home, from discharge until 6 months of age. The Neonatal Behavioral Assessment Scale was administered at term; the Infant Behavioral Assessment (IBA) at term, 3, and 6 months of age; and the Bayley Scales of Infant Development–II at 3 and 6 months (corrected age). At 6 months, intervention infants showed less stress and more approach behaviours on the IBA compared with control infants. These promising results warrant further evaluation in a randomized controlled trial.

The efficacy and safety of gabapentin as add-on therapy for refractory partial seizures in 237 children, aged 3 to 12 years were evaluated over a 6-month period. All children received gabapentin at 24 to 70mg/kg/day. Efficacy variables included the percent change in seizure frequency and the responder rate (defined as those patients who showed >50% reduction in seizure frequency). For all partial seizures, the median percent change in seizure frequency was –34% and the overall responder rate was 34%. Simple partial seizures showed a median reduction of –53%; complex partial seizures, –38%; and secondarily generalized tonic–clonic seizures, –35%. Thirteen patients (5%) withdrew during the 6-month period because of adverse events. Concurrent antiepileptic medication remained unchanged in 185 patients (78%), was decreased in 27 (11%), and increased in 25 (11%) patients. This 6-month follow-up study has demonstrated that gabapentin was well tolerated and appeared to show a sustained efficacy in a large population of children with refractory partial and secondarily generalized tonic–clonic seizures.

The original study by Badawi et al. investigated risk factors for neonatal encephalopathy (NE) and/or neonatal seizures in term infants. They used a broad definition appropriate for examining etiology and capable of asking such questions as: what proportion of NE arises after birth asphyxia? The answer was: some, but not much. That study was, and still is, the only large population-based investigation of multiple potential risk factors for NE, and it identified novel risk factors such as maternal thyroid disease, family history of seizures, and placental abnormalities. Several of these factors have been found to be risk factors for NE, neonatal seizures, or cerebral palsy (CP) in other studies.

Fifty-seven children with cerebral palsy (CP) and imaging evidence of vascular thrombosis (study group) and 167 children with CP and other imaging finds (control group)were selected. Sixty-one per cent of the study group were male and 53 (93%) had spastic hemiplegia compared with the control group, of whom 55% were male and 54 (32%) had a diagnosis of spastic hemiplegia. Mean age was 5 years 11 months (SD 5y 1mo) for the study group and 7 years 7 months (SD 4y 7mo) for the control group. Blood spots on Guthrie cards or buccal swabs were used to test both groups and their mothers for the factor V Leiden (fVL) mutation, which predisposes carriers to thrombophilia. Mothers were interviewed to gather antenatal, perinatal, demographic, and socio-economic data. The frequency of the fVL mutation in children with evidence of vascular thrombosis and their mothers was not statistically different from the frequency in children with CP with other imaging findings and their mothers. The frequency of the fVL mutation was significantly higher than the expected population frequency of 4% in the study group (10.5%, p=0.012) and in mothers of the control group (7.2%, p=0.036).