Neurobiological studies have generated new ways of thinking about development of brain structure and function. Development involves more than just growth from simple to complex structures. The initial over-abundance of neurons and synaptic connections is subsequently pruned of those that are non-functional. In addition, as behavioural and cognitive functions emerge and become automatized, the underlying brain representations are reorganized. In this paper, I shall argue that these different modes of neurodevelopmental change provide a useful metaphor for examining language acquisition. It will be argued that language acquisition can involve learning to ignore and inhibit irrelevant information, as well as forming new ways of representing complex information economically. Modular organization is not present from the outset, but develops gradually. This analysis suggests a new way of assessing specific language impairment (SLI). There has been much debate as to whether children with SLI lack specific modular components of a language processing system. I propose instead that these children persist in using inefficient ways of representing language. Finally, I consider what we know about the neurobiological basis of such a deficit. There is mounting evidence that children with SLI have subtle structural anomalies affecting the language areas of the brain, which are largely genetically determined. We should not, however, conclude that the language difficulties are immutable.

Using prospectively collected data from 13971 births enrolled in a large population-based cohort study (Avon Longitudinal Study of Parents and Children: ALSPAC), the prevalence of feeding difficulties at 4 weeks and 6 months of age in 33 children subsequently diagnosed with cerebral palsy (CP) were investigated. It was also assessed whether early feeding difficulties could be predictive of functional and growth outcomes at age 8 years. Weak sucking at 4 weeks of age was reported in 11 of 23 children with CP and in 2206 of 12299 (18%) of the remaining population (p<0.0001), and great difficulties feeding at 6 months of age was reported in two of 21 (10%) of the group with CP and in 373 of 10941 (3.3%) of control participants (p=0.017). Feeding difficulties at 4 weeks of age were associated with the pattern of functional impairment at age 4 years (p=0.009) and at 8 years (p=0.068), being clinically underweight (p=0.01), and having speech and swallowing difficulties (p=0.005) at 8 years of age. Early, persistent, and severe feeding difficulties are a marker for subsequent poor growth, feeding, and developmental outcomes and can identify children with CP who will benefit from gastrostomy feeding.

We examined muscle recruitment patterns in children with cerebral palsy (CP) and comparison children without CP under conditions of maximum voluntary contractions. Three groups of children participated in the study: (1) 12 children with diplegic CP (eight males, four females; age range 4–10y, mean age 7y [SD 2y 4mo]); (2) six children with hemiplegic CP (four males, two females; age range 5–10y, mean age 7y 4mo [SD 2y]); and (3) 13 comparison children with normal motor function (seven males, six females; age range 4–11y, mean age 7y 2mo, [SD 2y]). The children with CP were classified according to the Gross Motor Function Classification System: eight were Level I, five were Level II, four were Level III, and one was Level IV. Surface electromyography was recorded from four proximal and distal lower extremity (LE) muscles. Children with CP more frequently activated a muscle other than the intended prime mover first, compared with the comparison children, especially when the prime mover was a distal muscle. For example, during ankle plantar flexion, when the lateral gastrocnemius muscle was the prime mover, children with hemiplegia showed preactivation of the tibialis anterior muscle and children with diplegia showed medial hamstring coactivation. In conclusion, children with CP showed considerable differences to the comparison children in how LE muscles were voluntarily activated. Greater understanding of muscle recruitment patterns under a variety of tasks may provide new directions for motor control retraining or other forms of intervention.

The study of developmental disabilities, not being confined to one medical field, poses a challenge in evaluating outcomes research. It is a multidisciplinary area of study which encompasses health-care, rehabilitation, psychosocial, educational, and biotechnology specialties and involves biological, social, and behavioral effects of intervention. Consequently, there is a lack of consistency in what has been studied, how the outcomes have been measured, and where these results have been recorded. Naturally, these disparate outcomes data need to be consolidated in such a way that comparison of treatments can be made, within and across professional disciplines.

Recent studies on hand motor control in children with cerebral palsy (CP) have focused on the coordination of fingertip forces during the grasping and lifting of objects. However, little is known about the ability to replace and release an object from grasp, a function that is just as important for fine dexterity. The present study examines the coordination of fingertip forces during the replacement and release of an object (either 200 g or 400 g) from grasp in 14 children (aged between 7 and 13 years) with hemiplegic CP and in 14 age-matched typically developing children. The results indicate that children with hemiplegic CP abruptly replaced the object but had a prolonged and uncoordinated release of the grasp. Unlike what was seen in the control children, the grip and load forces decreased sequentially in the children with CP. However, all the children could appropriately scale the rate of force decrease based on somatosensory weight-related information from the ongoing lift. The results provide further information about the impaired hand skills in children with hemiplegic CP.

To compare the functional maturation of the human visual system between intra- and extrauterine course flash visual evoked potentials (VEPs) in preterm infants (gestational age 24 to 36 weeks). Previously established normal values, with special reference to the two components of the N1 wave, were employed (Tsuneishi 1995). A cross-sectional analysis of 124 infants at 36 weeks postmenstrual age (PMA), showed that there are no differences in the absolute values of VEP peak latencies depending on the postnatal age (PNA). Conversely, the N1 wave form changes with increasing PNA from a wave in which the early peak (N1a) has a higher amplitude than the late peak (N1b) into the reverse situation with a higher amplitude of the N1b as compared to N1a. This observation may correlate with the maturation of the neuronal networks in the visual cortex. In a longitudinal analysis of 50 infants followed for more than 5 sessions of weekly recordings, we found that the individual rapid decrease in the N1a latency, which may reflect the initiation of myelination in the optic radiation, most frequently occurs at around 37 weeks PMA, regardless of PNA. Preterm extrauterine visual experience has little effect on the myelination process in the visual pathway, but has a marked effect on the developmental changes in VEP wave form which reflect the developmental changes of the neuronal networks in the visual cortex.

Children with cerebral palsy (CP) have often been described as passive communicators. Their familiar conversation partners tend to direct and control interaction. Such conversation patterns may have various precursors: children's motor impairment, their intelligibility difficulties, and/ or their level of cognitive development. To test the comparative influence of these factors, measures of motor function, speech, communication, cognitive and language skills were applied in 40 children (18 males, 22 females) with CP who were aged from 2 years 8 months to 10 years. These variables were correlated with measures relating to interaction patterns to investigate whether individual features predicted communication style. In this group, poor speech intelligibility was the main predictor of restrictive communication patterns, such as fewer child-initiated conversation exchanges, more simple child communicative acts such as yes/no answers and acknowledgements of the other partner's messages. Results support the provision of therapy to increase children's intelligibility, whether spoken or augmented, such as the introduction of communication aids and training programmes for parents.

Whether antireflux surgery should be routinely performed at the time of gastrostomy in children with neurological disorders is debatable because of the risk of gastroesophageal reflux. Some argue that these children should be screened for occult gastroesophageal reflux as this will determine the need for fundoplication. This study retrospectively examines outcome in 29 children with neurological disorders who underwent percutaneous endoscopic gastrostomy (PEG) without concomitant fundoplication. Children were included if they had no clinical evidence of severe gastroesophageal reflux before PEG insertion. The median age of children at PEG insertion was 5.6 years (range 1.1 to 18.0). The children were followed for a median of 2.6 years (range 0.4 to 4.9). Insertion of PEG was technically impossible in two children; and an asymptomatic gastrocolic fistula in another child led to subsequent tube removal. Fourteen of the 26 remaining children developed symptomatic gastroesophageal reflux after PEG; five of these showed no reflux on pH monitoring prePEG. Control of symptoms was achieved by medical intervention in 12, but two required fundoplication. Our findings indicate that in the child with neurological disabilities without symptoms indicating severe gastroesophageal reflux, fundoplication is unlikely to be necessary as a consequence of PEG insertion. We conclude that routine investigation for gastroesophageal reflux in the child without severe vomiting can be avoided and the number of antireflux procedures reduced.

The aim of this review was to assess the effectiveness of therapy interventions on improving outcomes in children with cerebral palsy (CP) who have received botulinum toxin A (BTX-A) injections to either upper or lower limb muscles. We searched: the Cochrane Central Register of Controlled Trials; the electronic databases Medline, EMBASE, CINAHL, PEDro, SCI, and SSCI; websites of professional associations; and reference lists in trial reports and other relevant articles. We used studies on the effect of therapy on motor control, functional abilities, contracture, spasticity, and/or pain as the selection criteria. Methodological quality and the strength of evidence was assessed systematically by three independent raters using American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) guidelines. Twenty-four papers met the criteria for inclusion in the content analysis of evidence. Of these, only one randomized controlled trial was available, with results demonstrating that electrical stimulation postinjection did not enhance the effects of BTX-A on gait improvement (insufficient data provided to report size of effect). Remaining papers were of level II evidence (n=2), Level IV evidence (n=5), and level V evidence (n=14). We conclude that there is insufficient evidence to either support or refute the use of therapy interventions after BTX-A injections in children with CP.

The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of patients initially considered likely to have MRC disorders on clinical grounds, and subsequently diagnosed with other disorders (n=20; 11 males, 9 females). Data were retrieved from hospital records, referral letters, and results of enzymatic analysis at a reference laboratory. Clinical symptoms included developmental delay, epilepsy, hypotonia, movement disorder, spastic quadriplegia, tetany, microcephaly, visual problems, carpopedal spasms, dysmorphism, hearing loss, muscle weakness and rhabdomyolysis, and fulminant hepatitis. Blood and cerebrospinal fluid lactate levels were elevated in 13/20 and 9/20 respectively. One or more MRC complex activities (expressed as ratios relative to citrate synthase and/or complex II activity) were less than 50% of control mean activity in 11/20 patients (including patients with deficiencies of pyruvate dehydrogenase complex, pantothenate kinase, holocarboxylase synthetase, long-chain hydroxy acyl-CoA dehydrogenase, molybdenum co-factor, and neonatal haemochromatosis). One patient had a pattern suggestive of mitochondrial proliferation. We conclude that intermediate results of MRC enzymes should be interpreted with caution and clinicians should be actively looking for other underlying diagnoses.

Autism is a behaviourally defined syndrome characterized by disturbances of social interaction and communication and restrictions of behaviour patterns and imagination. The pathogenesis of autism is unknown but it is suspected that a number of genetic factors may be involved. Neurotrophic factors such as insulin-like growth factor-I (IGF-I) play a role in early brain development. The aim of this study was to determine whether IGF-I levels might be associated with the development of autism. IGF-I levels were measured in the CSF of 11 children with autism (4 females, 7 males; mean age 3.8 years, SD 1.1) using a sensitive radioimmunoassay method and compared with levels in 11 control participants (6 females, 5 males; mean age 3.8 years). Levels of IGF-I in the CSF were statistically significantly lower in the children with autism than in the control children (p=0.03). IGF-I may play a role in pathogenetic mechanisms of autism and the role of neurotrophic factors in autism and other neurodevelopmental diseases should be studied further.

Preterm children who develop severe chronic lung disease may be developmentally compromised by exposure to hypoxic episodes. This study aims to determine if children with severe bronchopulmonary dysplasia (BPD) who required home oxygen therapy were at greater risk for neurological and motor deficits at school age than preterm peers without BPD. This study evaluated 27 subjects with BPD and 27 preterm control infants matched for gestational age, birthweight, sex, and year of birth at a mean age of 9.9 years (2.0 SD) using standardized neuromotor outcome measures. Pair-matched comparisons and regression analyses were used to determine if subjects with BPD were at increased risk for neuromotor sequelae. Neurological abnormalities, including subtle neurological signs, cerebral palsy, microcephaly, and behavioral difficulties were highly prevalent in the BPD group (71% compared with 19% in control group, P<0.005). Over half the BPD cohort had difficulties in gross and/or fine motor skills. There were significant differences in postural stability between groups. Duration of hospitalization and home oxygen treatment, and decreased lung function at school age, markers of severity of illness, correlated with motor outcomes. The findings underline the importance of preventing the cardiorespiratory complications associated with chronic lung disease to minimize disability in preterm children. For children with severe BPD, better recognition and subsequent remediation of neuromotor impairments that manifest at school age may help maximize their functional potential.

A randomized placebo-controlled trial was carried out to investigate the efficacy of neuromuscular electrical stimulation (NMES) and threshold electrical stimulation (TES) in strengthening the quadriceps muscles of both legs in children with cerebral palsy (CP). Sixty children (38 males, 22 females; mean age 11y [SD 3y 6mo]; age range 5–16y) were randomized to one of the following groups: NMES (n=18), TES (n=20), or placebo (n=22). Clinical presentations were diplegia (n=55), quadriplegia (n=1), dystonia (n=1), ataxia (n=1), and non-classifiable CP (n=2). Thirty-four children walked unaided, 17 used posterior walkers, six used crutches, and the remaining three used sticks for mobility. Peak torque of the left and right quadriceps muscles, gross motor function, and impact of disability were assessed at baseline and end of treatment (16wks), and at a 6-week follow-up visit. No statistically significant difference was demonstrated between NMES or TES versus placebo for strength or function. Statistically significant differences were observed between NMES and TES versus placebo for impact of disability at the end of treatment, but only between TES and placebo at the 6-week follow-up. In conclusion, further evidence is required to show whether NMES and/or TES may be useful as an adjunct to therapy in ambulatory children with diplegia who find resistive strengthening programmes difficult.

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.

Foix–Chavany–Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children.

The study aimed to determine if melatonin could reliably induce sleep in children undergoing sleep EEG without affecting the usefulness of the EEG itself. One hundred and sixty three children (112 males, 51 females; mean age 8 years, range 1 to 16 years) referred for sleep EEG were studied. The children were given 2 to 10mg of melatonin, depending on age, just before EEG recording. Measurements included sleep-onset latency, adverse effects, and acceptability of the EEG. Usefulness and acceptability of melatonin-induced sleep EEG were compared with the standard technique of sleep EEG following sleep deprivation in 30 children (matched for sex and age). Sleep was obtained in 79% of the 163 children who received melatonin after an average of 33 minutes. Yield of epileptiform abnormalities demonstrated in the melatonin sleep EEG was similar to that reported in the literature for sleep-deprived EEGs. There was no significant adverse effect. When compared, a melatonin-induced sleep EEG was as useful as a sleep-deprived EEG. However, the children's behaviour on the day of the melatonin-induced sleep EEG recording was more acceptable to parents.

Narcolepsy often begins in childhood but is infrequently recognized, partly because of its many manifestations that can be confused with other conditions. The clinical presentations of excessive sleepiness, cataplexy, hallucinatory phenomena, and sleep paralysis (not always occurring together) are very varied. The picture may be further complicated by the occurrence of automatic behaviour, memory and visual problems, and associated sleep disorders, as well as the psychological and social consequences of having narcolepsy. Not surprisingly, therefore, misinterpretation of the symptoms as primarily psychological, or otherwise physical, may well occur leading to inappropriate management including initial referral to psychiatric or educational rather than neurological or sleep disorder services. The wide-ranging and special features of childhood narcolepsy need to be appreciated by health care and other professionals as well as by parents.

Force control ability was investigated in 10 males and 10 females, between 5 and 15 years old with spastic hemiplegia (mild and moderate hand dysfunction), and an aged-matched control group (eight males, 12 females). An isometric force production task at five different levels of maximum voluntary contraction (MVC) was performed. Results showed that MVC generated with the affected hand (AH) was only one-third of that generated by the non-affected hand (NAH; p<0.001), time to peak was almost twofold at the highest force level (p<0.001), and the coefficient of variation was twice as high (p<0.001). Results for the NAH did not differ from those of the control children. Correlations between clinical and experimental variables were significant for the relation between Ashworth score for elbow flexors, MVC and variability at the highest force level. In conclusion, the findings for the AH suggests that strength training should be considered for agonist spastic muscles.

The lack of evidence regarding functional and quality of life benefits resulting from tone reduction with intrathecal baclofen (ITB) infusion treatment relates to the lack of validated and responsive measures. We integrated our scale/questionnaire, developed from chart review, with the non-validated Caregiver Questionnaire (CQ) to yield a final document, the Care and Comfort Hypertonicity Questionnaire (CCHQ). Convergent validity was achieved by administering the CCHQ to 47 patients with spastic/dystonic cerebral palsy (CP) who were being evaluated for tone management. The population studied included 18 females and 29 males (mean age 10y [SD 4y 10mo]; range 3y 1mo–21y 1mo). Twenty-five patients were subsequently referred for botulinum toxin (BTX-A) injections (mean Gross Motor Function Classification System [GMFCS] 3.2); 11 patients were referred for ITB (mean GMFCS 4.4); four were referred for orthopedic surgery (mean GMFCS 3.3); 3 were referred for selective dorsal rhizotomy (mean GMFCS 2.7); one was recommended for oral baclofen (GMFCS 5); and three were recommended for no treatment (mean GMFCS 3.7). Blinded to the score, those with the highest scores (severe hypertonicity) were recommended for ITB; those with the lowest scores were recommended for BTX-A injections. Responsiveness of the CCHQ was established by administering the questionnaire to patients who already had an implanted ITB pump. The children with the largest dose increase demonstrated a statistically significant improvement in the CCHQ score. This scale can be used to document the efficacy of treating severe hypertonicity both in clinical and research protocols.