A link has been postulated between regressive autism and the spectrum of epileptic encephalopathic conditions including Landau-Kleffner syndrome with the suggestion that subclinical epilepsy may be causative of regression in autism. This is an audit of investigation using sleep electroencephalograms (EEG) in 64 children (56 males, 8 females; mean age 35.6mo [SD 8.2mo]; range 18–48mo) with autism. No child had a history suggestive of epilepsy. Thirty-nine of the children presented with regressive autism and 20 of the participants showed some epileptiform abnormality. There was no significant difference in epileptiform activities in those who showed regression compared with those who did not. No child showed electrical status epilepticus with continuous spike-wave discharges in slow sleep. There was no evidence that these cases of autism with and without regression were associated with epileptic encephalopathy. The significance of epileptiform discharges without epilepsy in the sleep EEG in autism remains unknown.

This study was designed to compare assessment with the functional outcome measures Gross Motor Function Measure (GMFM) and Pediatric Evaluation of Disability Inventory (PEDI) over time, in children with cerebral palsy (CP) undergoing selective dorsal rhizotomy combined with individualised physiotherapeutic interventions. Using the Gross Motor Function Classification System (GMFCS), 18 children with spastic diplegia were divided into two groups according to age-related severity of motor function impairment. Data were collected preoperatively, and at 6 and 12 months postoperatively. Both instruments were sensitive to changes in function over time in the series as a whole and in the group with milder impairment, although the PEDI detected significant changes earlier. In the group with more severe impairment, changes in function were detected only with the PEDI, not with the GMFM. Thus, the instruments are to be considered complementary tests, because they measure different aspects of function.

The aim of this study was to use family-assessed instruments and details of children's impairments to explore factors affecting the activities and participation of children with cerebral palsy (CP). A postal survey was conducted with families of a geographically defined population of children with CP aged 6 to 12 years. Family-assessed indices of children's activities and participation were the Activities Scale for Kids (ASK) and Lifestyle Assessment Questionnaire (LAQ-CP). Families also assessed children's abilities using the Gross Motor Function and Manual Ability Classification Systems (GMFCS; MACS). Details of children's impairments were available from the 4Child epidemiological database and used with the GMFCS and MACS as explanatory variables in multiple regression analyses to identify their effect on children's activities and participation. Families of 175/314 (56%) children returned an assessment using the GMFCS and 129 (41%) children participated fully by returning all the questionnaires. Full participants (72 males, 57 females) did not differ from those who did not take part by their age, sex, CP characteristics, or associated impairments: GMFCS Level I–25, Level II–43, Level III–15, Level IV–14, Level V–23; MACS Level I–14, Level II–30, Level III–18, Level IV–13, Level V–13. Scores for the ASK and LAQ-CP Physical Independence and Mobility domains were predicted well by children's movement, manual, and intellectual disability, and also, to some extent, by the presence of seizures or speech problems. LAQ-CP domains for Economic and Clinical Burden and Social Integration were not well explained by children's abilities and impairments. Family assessment, therefore, offers a useful method for measuring children's activities and participation; however, currently available instruments do not fully represent all the domains in the International Classification of Functioning, Disability and Health. Children's abilities only partially explain their activities and participation.

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured interview and 17 completed the Impact of Childhood Neurologic Disability Scale (ICND) questionnaire. Children included 11 males and 13 females aged 2 to 24 years (mean age 10y 2mo [SD 5y 8mo]). Stage 1 of the syndrome was generally very difficult. Uncertainty about the diagnosis was the primary cause of stress. Seizure control was worst during this time. The primary concern in Stage 2 remained seizure control but developmental, behavioral, and sleep issues also emerged. Negative effects were noted in parents' relationships with others. Stage 3 brought better seizure control but decreased cognitive level, increased behavioral problems, and increasing social isolation for parents. Respite and relief care were hard to obtain at each stage. ICND scores mirrored the findings of the interviews. The three stages of Dravet syndrome present serious challenges for parents. Seizures are persistent and severe but developmental, behavioral, and sleep issues add to the stress. In the absence of successful medical treatment for Dravet syndrome, further attention needs to be paid to helping families cope with the disorder.

Quantitative analyses of cross-sectional areas of the thalami, caudate nuclei, and lentiform nuclei were performed in 29 preterm infants (16 males, 13 females; mean age 29.6 weeks, age range 27 to 24 weeks,) with periventricular leukomalacia (PVL). MRI was carried out in the infants between 9 and 18 months of corrected age and in 16 control infants. Bilateral thalami, caudate nuclei, lentiform nuclei, cerebral hemispheres, and cerebellum were measured by computer. Ratios of the areas of the thalami (Th), caudate nuclei (Ca), lentiform nuclei (Le), and cerebral hemispheres (CH) to that of the cerebellum (Ce) were calculated in each infant. The ratio of Th:Ce was significantly smaller in infants with moderate and severe PVL than in the control group bilaterally. Abnormal intensity areas were not observed in the thalami in any infants with PVL. CH:Ce was also smaller in infants with severe PVL than in the control group. No significant difference was observed between the groups in ratios Le:Ce or Ca:Ce. Results of our study suggest that the volume of the thalami is reduced and that thalamic involvement is present in infants with white matter lesions who have moderate to severe PVL.

Growth and development of 207 children (49% males; mean age 5.4 years [SD 0.2], range 4 to 7.3 years whose mothers received iodine during pregnancy, and children who received iodine first in their 2nd year, were examined in 1996; 192 children (49% males; mean age 6.5 years[SD 0.2], range 5.8 to 6.9 years) whose mothers received iodine while pregnant were seen in 1998. Children were from the southern part of China's Xinjiang Province which has the lowest levels of iodine in water and soil ever recorded. Head circumference but not height was improved for those who received iodine during pregnancy (compared with those receiving iodine at age 2) and for those supplemented before the end of the 2nd trimester (relative to those supplemented during the 3rd trimester). Iodine before the 3rd trimester predicted higher psychomotor test scores for children relative to those provided iodine later in pregnancy or at 2 years. Results from the test for cognitive development resulted in trend only differences between those children supplemented during pregnancy versus later. The results address the question of when maternal iodine supplements should begin in public health programs world wide. Findings may be relevant to the treatment of maternal and newborn thyroid deficiency in industrialized countries, particularly for those infants delivered before the end of the second trimester.

Although ankle–foot orthoses (AFOs) are frequently prescribed to correct skeletal malalignment in children with spastic diplegia, their effect on standing balance abilities has not been documented. This study investigated balance differences related to the presence of pathology and orthotic conditions during conditions of unexpected stance perturbation by comparing four children aged between 3½ and 15 years with spastic cerebral palsy and four control children matched for years of independent walking experience. Electromyographic and kinematic data were collected and compared between groups and in three orthotic conditions (no AFOs, solid AFOs, dynamic AFOs). Results revealed that balance responses of children with spasticity were characterized by: increased coactivation of muscles as opposed to distal to proximal recruitment, decreased presence of upright posture in stance, increased use of ‘on-toes’ strategies, and different sway characteristics compared with the typically developing children. In both groups of children, the use of solid AFOs during perturbed stance resulted in: decreased activation of gastrocnemius muscles, disorganized muscle-response patterns, decreased use of ankle strategies, and increased joint angular velocities at the knee compared with conditions without AFOs or with dynamic AFOs. These preliminary results support the use of dynamic AFOs to correct skeletal malalignment in children with spastic diplegia.

This study compared the efficacy of Adeli suit treatment (AST) with neurodevelopmental treatment (NDT) in children with cerebral palsy (CP). Twenty-four children with CP, Levels II to IV according to the Gross Motor Function Classification System (GMFCS), were matched by age and functional status and randomly assigned to the AST or NDT treatment groups. In the AST group (n=12; eight males, four females; mean age 8.3y [SD 2.0]), six children had spastic/ataxic diplegia, one triplegia and five spastic/mixed quadriplegia. In the NDT group (n=12; nine males, three females; mean age 8.1y [SD 2.2]), five children had spastic diplegia and seven had spastic/mixed quadriplegia. Both groups were treated for 4 weeks (2 hours daily, 5 days per week, 20 sessions). To compare treatments, the Gross Motor Function Measure (GMFM-66) and the mechanical efficiency index (EIHB) during stair-climbing were measured at baseline, immediately after 1 month of treatment, and 10 months after baseline. The small but significant time effects for GMFM-66 and EIHB that were noted after 1 month of both intensive physiotherapy courses were greater than expected from natural maturation of children with CP at this age. Improvements in motor skills and their retention 9 months after treatment were not significantly different between the two treatment modes. Post hoc analysis indicated a greater increase in EIHB after 1 month (p=0.16) and 10 months (p=0.004) in AST than that in NDT, predominantly in the children with higher motor function (GMFCS Levels II and III). The results suggest that AST might improve mechanical efficiency without a corresponding gain in gross motor skills, especially in children with higher levels of motor function.

A prospective controlled study with repeated measures before and after surgery examined the medical, surgical, and health outcomes of gastrostomy for children with disabilities at a tertiary paediatric referral centre in the North Thames area, UK. Anthropometric measures included weight, mid-upper-arm and head circumference. Five-day prospective food diaries were completed and data on physical health and surgical outcomes recorded. Seventy-six children participated and underwent gastrostomy (44 males, 32 females; median age 3y 4mo, range 4mo–17y 5mo), and 35/76 required an anti-reflux procedure. Categories of disability were: cerebral palsy (32/76), syndrome of chromosomal or other genetic origin (25/76), slowly progressive degenerative disease (11/76), and unconfirmed diagnosis (8/76). Most children had gross motor difficulties (99%) and were non-ambulant (83%). Oromotor problems were identified in 78% of children, 69% aspirated, and 65% were fed nasogastrically before surgery. The mean weight before surgery was –2.84 standard deviation score (SDS; SD 2.21, range –9.8 to 3.4). Two-thirds of children achieved catch-up growth postoperatively: weight-for-age (mean difference 0.51 SDS, 95% CI 0.23–0.79, p=0.001) and mid-upper arm circumference (mean difference 1.12cm, 95% confidence interval 0.50–1.75, p=0.001). Health gains included a reduction in drooling, secretions, vomiting, and constipation. Major surgical complications were found in 13/74 children. The study provides evidence that catch-up growth and health gains are possible following gastrostomy.

On 27th to 28th February 2000, a multidisciplinary workshop was convened in the USA to explore the current state of knowledge, best clinical practice, and research needs for the management of equinus gait associated with cerebral palsy (CP). The workshop began with a brief review of CP epidemiology, and an inquiry into the current understanding of the natural history of equinus. Attention then shifted to indications for and goals of intervention; a summary of interventional approaches; the criteria by which successful intervention is evaluated; and, finally, research opportunities. What follows is an overview of the workshop.

Infants with bronchopulmonary dysplasia (BPD) often have difficulty achieving coordinated suckle feeding. To analyze rhythmic differences during feeding in infants with BPD we performed weekly studies of 14 infants with BPD (eight male, six female; postmenstrual age [PMA] 32.1 to 39.7 weeks); and a PMA-matched control group without BPD (n=20), from initiation of bottle feeding until discharge, with simultaneous digital recordings of pharyngeal and nipple (teat) pressure. Unlike the control group, there was no significant correlation between PMA and stability of suckle rhythm, aggregation of suckles or swallows into runs, or length of suckle runs. Comparing those infants >35 weeks' PMA, the group with BPD had significantly decreased stability of suckle rhythm (increased coefficient of variation of suckle–suckle intervals: 0.34, SE 0.02 vs 0.254, SE 0.014; p=0.003), decreased aggregation into suckle runs (71.1, SE 3.4% vs 85.4, SE 2%; p=0.001), and decreased length of suckle runs (7.2, SE 0.9 vs 13.1, SE 1.9 suckles/run; p=0.003). Percentage of swallows in runs was also decreased in the cohort with BPD (58, SE 3.8% vs 77.2, SE 3.5%; p<0.001), as was length of swallow run (5.3, SE 0.5 vs 10.7, SE 1.1; p<0.001). Thus, in infants with BPD, anticipated maturational patterns of suckle and swallow rhythms did not occur. Delay in attainment of stable suckle and swallow rhythms in preterm infants, especially after 35 weeks' PMA, may predict subsequent feeding and neurological problems.

A study of a clinic-based sample of 25 individuals (12 females, 13 males; age at diagnosis 14.4 years, SD 7.4 years; age range 4 to 33 years) with Down syndrome (DS) and autism spectrum disorders, demonstrates that autism is by no means rare in DS. Results showed that there was a considerable delay in the diagnosis of autism as compared with children with autism who did not have DS. In 11 participants medical factors were identified that were likely to be of importance in contributing to the development of autism, and in four further participants there were factors of possible significance. Such factors include a history of autism or autism-related disorders in first- or second-degree relatives (n=5), infantile spasms (n=5), early hypothyroidism (n=3), evidence of brain injury after complicated heart surgery (n=2), or a combination of these factors. It is important that autism is recognised, identified, and fully assessed in individuals with DS in order for them to receive appropriate education and support.

The objective of the study was to evaluate the effectiveness of modified constraint-induced movement therapy in young children with hemiplegia. It was a single-case experimental design using children as their own controls. Assessment was at entry to the study and subsequently at 4-weekly intervals. A 4-week baseline period with no hand treatment, controlling for maturation, was followed by a 4-week treatment period and a second 4-week period with no hand treatment to measure carry-over. Treatment consisted of twice-weekly 1-hour sessions of structured activities with a therapist and a home programme for non-treatment days. Only verbal instruction and gentle restraint of the unaffected arm were used to encourage use of the affected arm. Nine children (six males, three females; median age 31mo, age range 21 to 61mo) presenting with congenital spastic hemiplegia (five right side, four left side) were involved in the study. Changes in hand function were evaluated with the Quality of Upper Extremity Skills Test. Improvement was seen throughout the study with statistical significance, using the Wilcoxon signed rank test, of 0.01 immediately after treatment. Results of this pilot study suggest that this modification of constraint-induced movement therapy may be an effective way of treating young children with hemiplegia. Future work is planned to consolidate and develop these results.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical features, there have been few new data on its prevalence and on the proportion of cases due to new mutations. We have performed a retrospective epidemiological study on the prevalence of TSC, the clinical features attributed to it, and the availability of mutational analysis. We identified 73 known patients with TSC (5 deceased): 39 were female and 34 male. Ages ranged from 10 months to 69 years, with a mean age of 27 years 11 months (SD 16y 10mo). The point prevalence of TSC in our study was estimated at 1 out of 24 956 on the prevalence day (30 April 2004). The majority of patients (42.5%) were diagnosed at less than 15 months of age; 25% were not given a diagnosis on first developing symptoms. In all, 93.2% had epilepsy and 71.2% had a learning disability. A mutation was identified in 95.8% of those tested (26% TSC1 and 74% TSC2). TSC2 mutations were correlated with a more severe phenotype. The new mutation rate was calculated at 64%. We conclude that the prevalence of TSC is higher than previously calculated. We recommend that all children with epilepsy be assessed for features of TSC. Larger studies will be required to assess the prevalence of mutations in each gene, and genotype–phenotype correlation.

To quantify parameters of rhythmic suckle feeding in healthy term infants and to assess developmental changes during the first month of life, we recorded pharyngeal and nipple pressure in 16 infants at 1 to 4 days of age and again at 1 month. Over the first month of life in term infants, sucks and swallows become more rapid and increasingly organized into runs. Suck rate increased from 55/minute in the immediate postnatal period to 70/minute by the end of the first month (p<0.001). The percentage of sucks in runs of [ges ]3 increased from 72.7% (SD 12.8) to 87.9% (SD 9.1; p=0.001). Average length of suck runs also increased over the first month. Swallow rate increased slightly by the end of the first month, from about 46 to 50/minute (p=0.019), as did percentage of swallows in runs (76.8%, SD 14.9 versus 54.6%, SD 19.2; p=0.002). Efficiency of feeding, as measured by volume of nutrient per suck (0.17, SD 0.08 versus 0.30, SD 0.11cc/suck; p=0.008) and per swallow (0.23, SD 0.11 versus 0.44, SD 0.19 cc/swallow; p=0.002), almost doubled over the first month. The rhythmic stability of swallow–swallow, suck–suck, and suck–swallow dyadic interval, quantified using the coefficient of variation of the interval, was similar at the two age points, indicating that rhythmic stability of suck and swallow, individually and interactively, appears to be established by term. Percentage of sucks and swallows in 1:1 ratios (dyads), decreased from 78.8% (SD 20.1) shortly after birth to 57.5% (SD 25.8) at 1 month of age (p=0.002), demonstrating that the predominant 1:1 ratio of suck to swallow is more variable at 1 month, with the addition of ratios of 2:1, 3:1, and so on, and suggesting that infants gain the ability to adjust feeding patterns to improve efficiency. Knowledge of normal development in term infants provides a gold standard against which rhythmic patterns in preterm and other high-risk infants can be measured, and may allow earlier identification of infants at risk of neurodevelopmental delay and feeding disorders.

To test the hypothesis that children with suboptimal fetal growth have significantly poorer mental health outcomes than those with optimal growth, a population random sample survey of children aged 4 to 16 years in Western Australia in 1993 was conducted. The Child Behavior Checklist (Achenbach 1991a) and the Teacher Report Form (Achenbach 1991b) were used to define mental health morbidity. Survey data for 1775 children aged 4 to 13 years were available for linkage with original birth information. The percentage of expected birthweight (PEBW) was used as the measure of fetal growth. Children below the 2nd centile of PEBW who had achieved only 57% to 72% of their expected birthweight given their gestation at delivery were at significant risk of a mental health morbidity (OR 2.9, 95% CI 1.18, 7.12). In addition, they were more likely to be rated as academically impaired (OR 6.0, 95% CI 2.25, 16.06) and to have poor general health (OR 5.1, 95% CI 1.69, 15.52).

Between June 1993 and December 1996, 276 term newborn infants with encephalopathy and 564 randomly selected term controls were enrolled in a population-based study of moderate and severe term newborn encephalopathy (NE) in Western Australia. During comprehensive neurobehavioural and cognitive follow-up of all patients and controls at 3 years and again at 5 years of age we found an unexpected but strong association between NE and autism spectrum disorders (ASDs). A diagnosis of ASD by age 5 years was reached using criteria according of the Diagnostic Statistical Manual, 4th edition. Linking records to the Western Australian Disability Services Commission Register ensured that no child in the study with ASD was missed. By age 5 years, 37 (13.4%) infants with NE and one (0.2%) control had died. Among the 239 survivors of NE, 12 (5%) were diagnosed with an ASD. Of these, 10 (4.2%) met the full criteria for autism, one had pervasive developmental disorder–not otherwise specified, and one had Asperger syndrome. Among the 563 surviving controls, five (0.8%) were diagnosed with an ASD: three with autism, one with autism/possible Asperger syndrome, and one with Asperger syndrome. Compared with the controls, the children who had experienced NE were 5.9 times (95% confidence interval 2.0–16.9) more likely to have been diagnosed with an ASD.

To understand how the ‘caregiving context’ could affect responses to procedural pain, the authors sought to determine whether (1) the combined effects of sweet taste and holding (caregiving contact) were greater than the effects of either alone, (2) any combined effects were additive or interactive, and (3) the interventions had similar effects on behavioral (crying and facial activity) and physiological (heart rate, vagal tone) responses to the heel-stick procedure in newborn infants in a randomized two-factorial intervention trial. Eighty-five normally developing newborn infants were studied with a mean gestational age of 39.4 weeks on the 2nd or 3rd day of life. Infants were randomized in blocks of eight to receive (1) no holding and water taste (control participants), (2) no holding and sucrose taste (sucrose group), (3) holding and water taste (holding group), or (4) holding and sucrose taste (holding and sucrose group). Crying was reduced significantly by taste and holding, and the interventions combined additively. Facial activity was only significantly reduced by holding. For physiological measures, the interventions interacted with each other and preintervention levels to reduce heart rate and lower vagal tone more during the procedure in infants in whom heart rate and vagal tone were higher before intervention. Consequently, sweet taste and holding interventions combined in complex ways when acting on different behavioral and physiological response systems to modify stressful pain experiences. The results suggest that providing a caregiving context when painful procedures are performed may be a simple and practical method of reducing pain experience in infants, and that no one measure captures these effects.

Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ <70. In 13 individuals, attention-deficit–hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).

Scoliosis affects 75 to 90% of patients with non-ambulant Duchenne muscular dystrophy (DMD). Spinal surgery is the treatment of choice but the indication varies among centres. Some offer surgery to all non-ambulant patients, irrespective of scoliosis severity. Early surgery has the advantage of targeting DMD when cardiorespiratory function is preserved, but not all patients develop scoliosis. We report our 10-year experience of scoliosis management in 123 patients with DMD who were at least 17 years old at the time of the study. Scoliosis was absent in 10%, and mild, non-progressive (at least 30°) in 13% of patients. Another 13% had moderate scoliosis (31–50°) and were managed conservatively. Surgery was considered in 57% (70/123) of patients with scoliosis greater than 50° and eventually performed in 35%. The remaining patients either refused surgery (9%) or were unfit because of cardiorespiratory compromise (13%). In a further 7%, scoliosis (greater than 50°), first noted after 14 years of age, was progressing slowly and surgery was not performed. At 17 years there was no difference in survival, respiratory impairment, or sitting comfort among patients managed conservatively or with surgery. One-third (44/123) of our patients were managed satisfactorily without receiving spinal surgery. We provide insight into the natural history of scoliosis in DMD that should help families and clinicians with decision-making when surgery is considered.