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.

Separate groups of children with epilepsy, recruited from a regional pediatric epilepsy database, and their parents were established to discuss their life with epilepsy. Twenty-nine children (aged between 6 years and 10 years 4 months) and 42 of their parents were placed into nine and 17 groups respectively. The participants provided information about their own perceptions of life with epilepsy. Discussions were taped and textual analysis followed to extract, understand, explain, and categorize the health-related quality of life (HRQL) components. The process enabled us to identify the burdens and concerns of children with epilepsy, and to identify five emerging dimensions: (1) the experience of epilepsy, (2) life fulfillment and time use, (3) social issues, (4) impact of epilepsy, and (5) attribution. Identifying and understanding the components of HRQL is crucial for developing an HRQL scale in childhood epilepsy. In addition, this list of elements can help health professionals improve their services by considering and addressing aspects of the epilepsy experience beyond the traditional issues for children with epilepsy and their families.

The development of postural adjustments during reaching movements was longitudinally studied in seven infants with cerebral palsy (CP) between 4 and 18 months of age. Five infants developed spastic hemiplegia, one spastic tetraplegia, and one spastic tetraplegia with athetosis. Each assessment consisted of a simultaneous recording of video data and surface EMGs of arm, neck, trunk, and leg muscles during reaching in various lying and sitting positions. The basic organization of postural adjustments of the children developing spastic CP was intact. Their main problem was a deficient capacity to modulate the postural adjustments to task-specific constraints – a deficit which was attributed to a combination of an impaired motor coordination and deficits in sensory integration. The child with spastic-dyskinetic CP showed distinct abnormalities in the basic organization of postural adjustments.

Moderate to severe sleep-disordered breathing (SDB) was identified in 20% (17 of 83) of children with spina bifida/myelomeningocele (SB/MM) at the Montreal Children's Hospital. The prevalence of SDB in patients with SB/MM elsewhere has not been determined. To establish current practices for identifying SDB in patients with SB/MM, questionnaires were sent to the coordinators of the 212 spina-bifida clinics in Canada and in the United States. Eighty-six (41%) questionnaires were returned, representing data on 13349 patients. Although 67% of the responding centers reported availability of cardiorespiratory sleep studies, only 996 (7.5%) patients with SB/MM had been tested and only 418 (3.1%) patients had been diagnosed with SDB. Across clinics, the prevalence of SDB was directly related to the frequency of testing. Of 380 deaths over the past 10 years, SDB and sudden unexplained death during sleep were identified as the cause of death in 49 (12.8%) and 34 (8.9%) patients, respectively. Moderate to severe SDB may not have been identified in a significant number of patients with SB/MM because they have not been tested.

The aim of this prospective follow-up study was to assess the effects of pre- and perinatal factors on children's behaviour at the age of 3 years. Nulliparous women who attended a maternity health care clinic were invited to participate: 1443 women were included. Data were obtained from the mother, father, and clinic nurse. A Finnish translation of Achenbach's Child Behavior Checklist for Ages 2–3 was completed by 1086 families at the child's 3-year visit to the well-baby clinic. The results were analysed using Pearson's χ2, multivariate regression analysis, and coefficient of determination (100xr2). A good basic education (i.e. >9 years) of the mother and age over 25 years were associated with low syndrome-scale scores, indicating fewer behavioural problems. Poor health of the mother, a high number of pregnancy-related symptoms, and low Apgar scores for the newborn infant were associated with high syndrome-scale scores. In this population sample, the mother's health during pregnancy together with level of education, and marital status are more important in explaining the variation in a child's behaviour than biological risks during pregnancy.

To determine the outcome at 1 year of neonatal encephalopathy (NE) and to estimate the possible contribution of birth asphyxia to childhood disability in a low-income South Asian country, a prospective cohort study was undertaken in the principal maternity hospital of Kathmandu, where over 50% of local women give birth. From a total population cohort of 21609 live births, 131 term infants with NE (after exclusion of cases associated with neonatal sepsis, congenital malformations, or primary hypoglycaemia) and 208 term control infants were recruited. Of these, 102 (78%) infants with NE and 106 (51%) control infants were followed-up to 1 year of age. Outcome measures were death or neurodevelopmental impairment, graded as major, minor or none. Of the 131 term infants with NE, 83 were graded with moderate or severe NE according to conventional definition. By 1 year of age, 45 (44%) of the infants with NE had died, 18 (18%) had severe impairments, and two (2%) had minor impairments; four (4%) of the control subjects had died and two (2%) had minor impairments. Most deaths in subjects with NE occurred in the early neonatal period; NE carried no excess risk of death beyond the neonatal period. Of the 18 children with major impairment, 14 (78%) had spastic tetraplegic cerebral palsy and eight (44%) had multiple impairments. Compared with the control group the relative risk of death by 1 year was 5 (95% CI 1.4 to 15) for mild NE, 8 (95% CI 3 to 23) for moderate, and 26 (95% CI 10 to 67) for severe. Twenty-seven of 38 (71%) infants with moderate NE either died or survived with major impairment. An upper estimate for the prevalence of major neuroimpairment at 1 year attributable to birth asphyxia is 1 per 1000 live births in this population.

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.

Lesch–Nyhan syndrome (LNS) is a rare disorder of metabolism caused by a defective gene on the X chromosome. It is typically characterized by choreoathetosis, hypertonia, hyperreflexia, and self-mutilation. The present study is a 4-year follow-up investigation of the cognitive status of six subjects with a mean age of 17 years 10 months (range 14 years 9 months to 23 years). The Stanford–Binet Intelligence Scale: IV was used. Each of the four domains assessed by this battery (verbal reasoning, abstract/visual reasoning, quantitative, and short-term memory) was compared with previous findings of the same subjects at their initial test and 2-year follow up; the aim being to gain further insight into the clinical course of LNS over time. The results suggest that while the subjects generally continued to acquire new information and skills over time, their standardized scores declined, indicating that a plateau was reached in their skill levels relative to their peers, as also seen in other developmental disabilities. Deficits were noted in working memory, particularly on tasks that involve considering multiple features simultaneously.

A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.

An 8-year-old girl is described who presented with seizures. These were subsequently found to be pseudoseizures, with no EEG changes. They were provoked by pain from cervical ribs. This cause of pain-provoked pseudoseizures has not previously been described.

The aim of this study was to examine the haemodynamic response to seizures in three infants with Sturge–Weber syndrome by measuring regional cerebral blood flow using transcranial Doppler sonography and 99mTc HMPAO SPECT. Time-locked video/digital EEG recording was carried out for ictal studies. MRI was performed in all subjects. SPECT showed hemispheric hypoperfusion interictally in all three patients and also ictally in one of the three; a small region of hyperperfusion was seen on the same ictal scan in the latter, ie. the patient with interictal and ictal hypoperfusion. In the two older children middle cerebral artery velocity (MCAV) was reduced by between 29 and 62% in the middle cerebral artery of the predominantly affected hemisphere compared with the contralateral side. During seizures, increases of 6 to 30% in MCAV were recorded for the clinically seizing hemisphere compared with 24 to 170% for the contralateral side in four of the seizures recorded. In one infant, MCAV fell bilaterally during a seizure that generalized (−18 and −43% in the predominantly affected and contralateral side respectively). Sequential recordings in one infant suggested that, with time, the haemodynamic response to seizures of the unaffected hemisphere may decrease. These findings suggest that the venous malformation in SWS is associated with an impairment of the cerebral haemodynamic response to seizure activity.

All children who present in a convulsion, including convulsive status epilepticus, to the accident and emergency department over a 12-month period and who required treatment, were reviewed retrospectively to identify the effectiveness and safety of a specific treatment protocol. This protocol recommends the initial use of one, or if necessary, two doses of rectal or intravenous diazepam (0.4mg/kg) followed by the simultaneous administration of phenytoin (18mg/kg) and rectal paraldehyde (0.4mL/kg), with instructions for maximum doses and timings of administration. Eighty-one evaluable children (52 male) were audited. The mean age of the study population was 4.1 (range 0.1 to 14.9) years. Overall, the presenting convulsion was successfully terminated in 76 children (94%) within the accident and emergency department. In 69 children (85% of the entire study population) this was after a single dose of diazepam (rectal in 41 and intravenous in 28). In only an additional two children did the presenting convulsion stop after a second dose of diazepam. In five of the 10 children (50%) who received paraldehyde and phenytoin as a combination, the convulsion stopped. Nine patients (11%) required admission to the intensive-care unit, five because of persisting convulsive activity, and four because of respiratory depression. The results of this retrospective audit suggest that the current treatment protocol appears to be effective and relatively safe in treating acute convulsions, including convulsive status epilepticus. The audit is to be repeated prospectively to either confirm or refute these findings before recommending any changes to the protocol.

Lower respiratory tract infections in children with severe neurodisability are usually caused by aspiration of stomach contents from gastroesophageal reflux (GOR) or direct aspiration (DA) of food due to oral and pharyngeal motor problems. To determine the contributions and interactions of GOR and DA, oesophageal 24-hour pH monitoring and feeding videofluoroscopy were performed in 34 children (age range 7 months to 16 years, mean 7 years) who had severe physical and learning disabilities and who were slow feeders. Subjects were divided into three groups according to the frequency of their respiratory tract infections. Subjects in group 1 had no respiratory tract infections (N=10); five had GOR and none had DA. Subjects in group 2 had minor respiratory tract infections but had not received more than one course of antibiotics for this in the previous year (N=8); two had GOR alone, four had DA alone, and two had neither. All subjects in group 3 had recurrent respiratory tract infections (N=16); one had GOR alone, seven had DA alone, and eight had both GOR and DA. This study suggests that oral and pharyngeal motor problems are the major cause of respiratory tract infection in children with severe neurodisability. These problems lead to DA and, if GOR is present, to the aspiration of stomach contents. Those children with both DA and GOR are more likely to have severe respiratory tract infections which may lead to gastrostomy feeding (together with fundoplication). GOR without sufficient oral and pharyngeal motor problems to cause DA is less likely to cause respiratory tract infection in children with severe neurodisability.

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with confirmed diagnoses of tuberous sclerosis and significant sleep disorder were recruited. We employed three outcome measures: total sleep time, time to sleep onset, and number of awakenings. Patients treated with melatonin had a small but clinically significant improvement in total sleep time (mean improvement 0.55 hours, P<0.05). They also tended to have an improvement in sleep-onset time but this did not reach statistical significance. Melatonin, in this trial, had no discernible effect on sleep fragmentation. We conclude that melatonin does have a beneficial effect in prolonging the total sleep time of patients with tuberous sclerosis and sleep disorder and that further trials are necessary to investigate the issues of optimal dosage, tolerance, and possible interactions with other medications.

To study the behavioral style or temperament of 45 boys, aged 47 to 88 months, with full-mutation fragile X syndrome (FXS), 102 parent ratings on the Behavioral Style Questionnaire (McDevitt and Carey 1978) were recorded. These ratings were analysed with a variety of statistical techniques. Considerable variability was evident in temperament profiles; consequently, a characteristic profile was not identified for FXS. Boys with FXS differed significantly from the reference sample on five of nine temperament dimensions. They were more active and less intense, approachable, adaptable, and persistent. No significant differences were found in distractibility, rhythmicity, mood, or sensory threshold. Only 16 of the 45 boys in the sample could be classified as easy, difficult, or slow to warm up. There was no link between severity of developmental disability and temperament ratings. This supports the theory that intelligence and temperament are separate constructs. Scores on temperament dimensions were stable over time. Our results suggest that many of the behaviors observed in boys with FXS may be related to temperament. Consequently, parent counseling and environmental modifications should be considered as first line treatment. The question of whether the behavior problems observed in boys with FXS are innate or whether they result from poorness of fit between child and environment is an important issue that needs further study.

To confirm the presence of apneusis in patients with hypoxic–ischemic encephalopathy and to clarify which factors influence their respiratory patterns, polygraphic studies were performed on two patients. Apneusis was clinically suspected in both patients who had severe brainstem damage. In one subject, inputs of vagal afferents from the gastrointestinal tract and the urinary bladder often resulted in extreme tachypnea instead of apneusis. Lung inflation facilitated expiration during inspiratory arrest. Expiration preceded a periodic inhibition of rigospastic discharge in the right biceps muscle. In the other subject, prolonged inspiratory pauses with cyanosis occurred with or without preceding epileptic seizure. Both phenytoin dose reduction and treatment with tandospirone, a serotonin-1A agonist, were effective in improving the respiratory distress in this subject.

Inherited and acquired thrombophilic disorders have recently been associated with cerebral palsy (CP) and complications in pregnancy. Thrombophilic disorders are not diseases per se, but are recognized risk factors for a variety of diseases across all ages, including atherosclerosis, cerebral infarction, inflammatory bowel disease, Legg–Perthes disease, deep venous thromboses, and preeclampsia. In healthy individuals, the balance between procoagulant and anticoagulant mechanisms is exquisitely regulated, protecting against both excessive bleeding and excessive clotting (thrombophilia). This annotation is intended to be a broad overview of thrombophilia, with special attention to the factor-V Leiden (fVL) mutation, an autosomal dominant point mutation resulting in resistance to activated protein C (APC). This thrombophilic disorder has wide clinical implications for the management of carrier women and their offspring, as illustrated by the accompanying case report.

This study examined phonological working memory and speech discrimination among children with attention-deficit–hyperactivity disorder (ADHD) with and without motor problems. Forty-one children were assigned to three groups; children with ADHD (N=9), children with ADHD plus developmental coordination disorder (ADHD+, N=13), and age-matched control children (N=19). The subjects' ability to classify stimulus pairs was examined in two experiments. The first experiment required subjects to discriminate pairs of monosyllabic stimuli with contrasting consonants to test speech discrimination without using a working-memory load. In the second protocol, subjects were exposed to two- to five-syllabic non-word pairs with contrasting vowels in order to test speech discrimination with a working-memory load. The subjects classified the pairs as being either the same or different in both experiments. No significant differences were found between the subject groups in the discrimination task with monosyllables. When exposed to the two- to five-syllabic stimuli, the ADHD+ group scored significantly lower than both other groups. This was attributed to a higher sensitivity to working-memory load. Some possible explanations of this effect are discussed.

Bilateral periventricular nodular heterotopia (BPNH) is a neuronal migration disorder, characterized by grey-matter cellular rests in the periventricular regions. Patients frequently present with seizures during childhood or later in life. Monozygotic twin sisters were found to have enlarged head circumferences (>95th centile) during a routine medical visit at 6 months of age. A brain CT scan revealed grey-matter cellular rests in the subependymal regions extending to the subcortical white matter. In some areas these cell aggregates had nodular margins, consistent with the diagnosis of BPNH. At 6 years of age they are cognitively and neurologically normal. They have not had any seizures and their heads continue to grow along the 95th centile.

We describe the clinical presentation, course, and treatment response of a 14-year-old boy with catatonic stupor. This patient, with a preexisting diagnosis of autism, displayed mutism, akinesia, and an extreme level of rigidity, waxy flexibility, posturing, including the psychological pillow, facial grimacing, and other involuntary movements of his upper extremities. In addition he had symptoms suggestive of a depressive disorder as well as some non-specific psychotic symptoms. Intravenous injection of sodium amytal failed to resolve any motor symptoms, although he showed a good response to the zolpidem test. A course of electroconvulsive therapy (ECT) caused dramatic and sustained relief of catatonic stupor without a change in the symptoms of autism. The presentation of catatonia in autism and the use of ECT in children are discussed, and the available literature reviewed. This is the first description of the use of ECT in the treatment of catatonia coinciding with autism and we confirm its efficacy.