Major conceptual advances in the area of paediatric neurosciences have been made in the last few years, mainly due to both molecular genetics, whereby the neurological phenotypes are now tentatively correlated with specific genotypes, and functional neuroimaging, whereby the neurological signs can be mapped to specific regions or circuits in the brain.

The good news in the paper from Dolk and colleagues is that the severity of disabilities and overall rates of cerebral palsy (CP) in very low birthweight infants born in Northern Ireland decreased during the 1990s. This followed an increase in the 1980s, observed in many places following the introduction of assisted ventilation to neonatal intensive care. However, according to their paper the CP rates for births <1000g were still higher between 1994 and1997 than those observed in the early 1980s.

We describe trends in the prevalence of cerebral palsy (CP) by birthweight group, and in the severity of motor impairments and presence of associated intellectual impairment, in Northern Ireland from 1981 to 1997 (n=909; 510 males, 399 females; total population 415936 live births) using data from a population-based register of CP. Children with suspected CP or who died before 1 year of age and those with CP of postneonatal origin were excluded. Prevalence of CP was 2.2 per 1000 live births without significant change over time. Among very-low-birthweight (<1500g) live births, prevalence was 44.5 per 1000 (95% confidence interval 32.3–59.8) from 1994 to 1997, with evidence of a statistically significant decline in prevalence since the mid- to late 1980s accompanied by a decrease in the severity of motor impairment and likelihood of intellectual impairment. Among moderately-low-birthweight (1500–2499g) children there was weaker evidence of a peak prevalence in the late 1980s. Prevalence among normal-birthweight infants did not change significantly, but outcome in terms of severity of motor impairment and intellectual impairment improved in the 1990s. Occurrence of bilateral spasticity from 1994 to 1997 was associated with greater severity and likelihood of intellectual impairment for normal-birthweight individuals than for low- or very-low-birthweight individuals.

The aim of this cross-sectional study was to determine the prevalence of cerebral palsy (CP) among children in Turkey between the ages of 2 and 16 years. Samples were selected from cities, towns, districts, and villages using the cluster sampling method; 41861 children were selected. Data was collected by parental interview and physical examination. One hundred and eighty-six children were identified with CP. The prevalence of CP was determined as 4.4 per 1000 live births and included postnatally acquired CP. Origin of CP was classified as prenatal in 49 (26.6%), perinatal/neonatal in 34 (18.5%), postnatal in 11 (5.9%), and unclassifiable in 90 participants (48.9%; data was unobtainable for two individuals). Type of CP was diplegia in 39.8% of children, hemiplegia in 28%, tetraplegia in 19.9%, ataxia in 5.9%, and dyskinetic in 6.4%. Prenatal factors were seen more frequently in the groups with a high socioeconomic status while perinatal factors were encountered more often in those with a low socioeconomic status (p<0.05). Place of residence and sex had no significant effect on the prevalence of CP (p>0.05). This cross-sectional study shows that the prevalence of CP in Turkey is higher than that in developed countries but the aetiology is probably similar. Although the high prevalence of CP in Turkey could originate from an increased level of obstetric and neonatal problems, the lack of a possible aetiological factor in approximately half the children suggests that the high level might also be due to other factors, such as genetic disorders.

The aim of this study was to describe and analyze gross and fine motor function and accompanying neurological impairments in children with cerebral palsy (CP) born between 1991 and 1998 in western Sweden. A population-based study comprised 411 children with a diagnosis of CP ascertained at 4 to 8 years of age. Gross Motor Function Classification System (GMFCS) levels were documented in 367 children (205 males, 162 females). Bimanual Fine Motor Function (BFMF) classification levels of 345 of the children and information on learning disability, epilepsy, visual and hearing impairments, and hydrocephalus from 353 children were obtained. For spastic CP, a new classification according to the Surveillance of Cerebral Palsy in Europe of uni- and bilateral spastic CP was applied. GMFCS was distributed at Level I in 32%, Level II in 29%, Level III in 8%, Level IV in 15%, and Level V in 16%. The corresponding percentages for BFMF were 30.7%, 31.6%, 12.2%, 11.9%, and 13.6% respectively. Learning disability was present in 40%, epilepsy in 33%, and severe visual impairment in 19% of the children. Motor function differed between CP types. More severe GMFCS levels correlated with larger proportions of accompanying impairments and, in children born at term, to the presence of adverse peri/neonatal events in the form of intracranial haemorrhage/stroke, cerebral infection, and hypoxic–ischaemic encephalopathy. GMFCS Level I correlated positively to increasing gestational age. We conclude that the classification of CP should be based on CP type and motor function, as the two combine to produce an indicator of total impairment load.

The aim of this study was to assess the stability of the Gross Motor Function Classification System (GMFCS) by examining whether children with cerebral palsy (CP) remain in the same level over time. Participants were 610 children with CP (342 males, 268 females; mean age 6y 9mo [SD 2y 10mo]), range 16mo–13y). Children were assessed 2 to 7 times (mean 4.3) at 6-month (children <6y old) or 12-month(children [ges ]6y old) intervals. Seventy-three per cent of children remained in the same level for all ratings. The weighted kappa coefficient between the first and last ratings was 0.84 for children less than 6 years old and 0.89 for children at least 6 years old, indicating excellent chance-corrected agreement. Children initially classified in Levels I and V were least likely to be reclassified. There was a tendency for children younger than 6 years who were reclassified to be done so to a lower level of ability. The results provide evidence of stability of the GMFCS.

The level of agreement between clinicians' ratings of gait patterns in children with spastic hemiplegia was investigated using the Winters, Gage, and Hicks (WGH) classification scale. Sixteen clinicians (nine physiotherapists, seven orthopaedic surgeons) from six gait laboratories in five different countries rated gait patterns in 34 children with spastic hemiplegia (22 males, 12 females; mean age 10y [SD 3y], range 6–18y). Archived three-dimensional gait reports (kinematic and video data) and videos (video clips only) were rated for each child. Agreement between clinicians was substantial for reports (weighted kappa [wκ] 0.77, range 0.62–0.89). Agreement was lower for videos (wκ 0.63, range 0.39–0.97) and for clinicians' agreement between reports and corresponding videos (wκ 0.62, range 0.47–0.76). Exact agreement was unacceptable for some gait patterns using reports (mean 65%, range 32–74%) and videos (mean 53%, range 35–94%). Not all gait patterns could be rated using the original WGH categories. It was concluded that: (1) agreement is acceptable using the WGH tool; (2) kinematic data from 3D instrumented gait analysis and video should be used together when using the WGH scale; and (3) further refinement of this classification is required.

The effect of surgical correction of impaired forearm rotation on associated body movement patterns was studied prospectively by comparison of preoperative and postoperative three-dimensional video analysis of the upper extremity and trunk in eight male and two female patients with hemiplegic cerebral palsy (CP; mean age 16y 2mo [SD 4y 11mo]; range 11–27y). A customized parameter, ‘extrinsic forearm rotation’, was used to quantify associated movements supplementing forearm rotation. After surgical correction of the pronation deformity, active forearm supination during a functional reaching task had improved by a mean of 37° in combination with significantly decreased extrinsic forearm rotation by a mean of 13°. In addition, an average loss of 16° of active pronation in combination with increased extrinsic forearm rotation (mean 8°) was observed. On the basis of these results we conclude that successful surgical correction of a pronation deformity in patients with CP directly affects related movement patterns of the upper extremity and trunk.

This investigation determined the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Cerebral Palsy (CP) Module. PedsQL 4.0 Generic Core Scales and 3.0 CP Module were administered to 245 families. Mean age of the 134 males and 107 females was 8 years 1 month (SD 4y 4mo; range 2–18y). The sample included children with hemiplegia (n=55), diplegia (n=84), and quadriplegia (n=85). Twenty eight children had a Gross Motor Function Classification System classification at Level I, 40 at Level II, 86 at Level III, 43 at Level IV, and 37 at Level V. Reliability was demonstrated for the PedsQL 4.0 (α=0.86 child, 0.89 parent) and CP Module (α=0.79 child, 0.91 parent). The PedsQL 4.0 distinguished between healthy children and children with CP. Construct validity of the CP Module was supported. Sensitivity of the PedsQL was demonstrated among children with different diagnostic categories and gross motor function.

The aim of this retrospective study was to describe signs, symptoms, and clinical outcomes of individuals undergoing intrathecal baclofen (ITB) therapy who experienced pump-related Gram-negative infections including meningitis. Participants included 12 individuals (nine males, three females) aged 10 to 32 years (mean 17y 9mo), nine of whom had quadriplegic CP. A total of 571 baclofen pump surgeries were performed with 45 total infections. Of the 45 infections, 12 were by Gram-negative organisms, two resulting in meningitis. Ten of 12 Gram-negative infections (21 site encounters) occurred within 60 days of surgery. Eleven of 12 pumps were explanted. By site encounters, Pseudomonas aeruginosa accounted for eight Gram-negative infections, Escherichia coli for five, Proteus for three, Enterobacter cloacae for two, and Klebsiella, Enterobacter aerogenes, and Enterobacter vulnaris for one each. Two individuals with Gram-negative meningitis were admitted 72 to 96 hours after hospital discharge following pump replacement. Both patients had rapid deterioration requiring transfer to the pediatric intensive care unit, and developed coagulopathy and decrease in responsiveness. Both have improved and have elected not to replace the ITB pump. In Gram-negative infections in ITB therapy, the progression of signs and symptoms can be swift and devastating. Identification of the infectious agent in such cases is imperative; these infections can quickly become life threatening.

Tiagabine, developed as an anti-epileptic medication, has the potential to reduce spasticity. The purpose of the present study was to assess the effectiveness of tiagabine in decreasing spasticity and improving the functional abilities of children with spastic cerebral palsy (CP). Nine children (seven females, two males) with CP (six spastic quadriplegia, three moderate to severe spastic diplegia) were treated with tiagabine for a mean of 7.2 months. Median age was 4y 5mo (range 3y 2mo–10y). All children were non-ambulatory. According to the Gross Motor Function Classification System, six were Level IV and three were Level V. Only one child showed a median decrease [ges ]1.0 grade on the modified Ashworth scale in upper extremities, lower extremities, and overall. Another child had significant improvement in the Pediatric Evaluation of Disability Inventory Self-care score and improved feeding. None of the participants was found to have a significant improvement in motor function or a decrease in the number of motions (passive range of motion and muscle length test) that were limited. Reduction of nocturnal awakenings from painful spasms was reported in one child. Eight of the nine children experienced adverse side-effects during treatment. Although tiagabine was not found to be effective in decreasing children's spasticity or improving their function, its potential use in the relief of painful spasms associated with neurological conditions in the pediatric population warrants further investigation.

Pediatric feeding/swallowing specialists commonly observe infants and toddlers who present with gagging or significant behavior state changes as a result of touch to oral and body regions. To date, this behavior has not been fully characterized or documented experimentally. This paper describes an exploratory study aimed at filling in these lacunae and providing a possible explanation. The study compares the responses to firm tactile pressure of 40 children between the ages of 3 and 18 months. The experimental group consisted of 20 children (12 males, 8 females) with heterogeneous medical diagnoses, at least 2 weeks of alternative feedings during the first 3 months of life, and a common history of persistent feeding difficulties. The comparison group consisted of 20 children with an unremarkable medical history matched by age and sex to the experimental group. Firm, tactile pressure was applied in a predetermined sequence following dermatome regions from legs to mouth. Response was recorded in terms of presence/absence of gagging and/or behavior state changes. Fifteen of the 20 children in the experimental group showed gagging (14) or inconsolable crying (1) in response to touch. None of the matched comparison group demonstrated either gagging or behavior state changes. The experimental and comparison groups showed significant differences in response to tactile input. Further, the source of these abnormal responses must be sought in similarity of experience across heterogeneous medical diagnoses and interventions. One possible explanation is a history of oral deprivation due to alternative feedings.

The aim of this study was to investigate sex-related differences in the prenatal development of early oral, lingual, pharyngeal, and laryngeal motor activities. Sonographic images of oral–upper airway regions were observed in 85 healthy fetuses (43 males, 42 females; mean gestational age 24wks 3d [SD 0.69]; range 15–38wks). Biometric data on morphologic development and associated motor patterns were compared across second and third trimesters. Results showed that while males and females demonstrated statistically similar patterns of general physical growth (p>0.05), significant differences in development of specific lingual and pharyngeal structures were present (p<0.05). Significant differences were found for laryngeal and pharyngeal motor activity, and oral–lingual movements (p<0.05). Complex oral–motor and upper airway skills emerged earlier in females, suggesting a sex-specific trajectory of motor development. It was concluded that differential patterns of prenatal motor development may be important in defining sex-specific indices of oral skill maturation.

In this preliminary study, it was examined whether capacity to react to external stress (acute pain) during neonatal intensive care predicts later neuromotor development at 4 and 8 months corrected chronological age (CCA) in high-risk preterm infants. Behavioural and cardiac reactivity to blood collection at 32 weeks postconceptional age (PCA) were recorded in addition to developmental outcomes at 4 and 8 months CCA in 35 preterm infants (17 males, 18 females) born [les ]800g and/or [les ]25 weeks gestational age (GA). Pain reactivity during routine heel lance for blood collection at 32 weeks GA was measured using a composite score derived from the Neonatal Facial Coding System, change in infant sleep/wake state, and spectral analysis of heart rate. Motor development was assessed using the Movement Assessment of Infants scale and the Bayley Scales of Infant Development. Low biobehavioural pain reactivity at 32 weeks PCA was associated with poorer overall quality of motor function at 8 months CCA, but not at 4 months CCA. It was concluded that pain reactivity before discharge from the neonatal intensive care unit may be a useful marker of neuromotor development in infancy.

Maintenance of postural balance requires an active sensorimotor control system. Current data are limited and sometimes conflicting regarding the influence of the proprioceptive, visual, and vestibular afferent systems on posture control in children. This study investigated the development of sensory organization according to each sensory component in relation to age and sex. A total of 140 children (70 males, 70 females; mean age 10y [SD 4y]; age range 3y 5mo–16y 2mo) and 20 adults (10 males, 10 females; mean age 30y 6mo [SD 8y 4mo]; age range 17y 2mo–49y 1mo) were examined using the Sensory Organization Test. Participants were tested in three visual conditions (eyes open, blindfolded, and sway-referenced visual enclosure) while standing on either a fixed or a sway-referenced force platform. Mean equilibrium scores for the six balance conditions showed rapid increases and maturation ceiling levels for age-related development of the sensorimotor control system. Proprioceptive function seemed to mature at 3 to 4 years of age. Visual and vestibular afferent systems reached adult level at 15 to 16 years of age, revealing differences between young males and females. Characterizing balance impairments can contribute to the diagnostic evaluation of neuromotor disorders.

The aim of this study was to provide a comprehensive profile of the sensory, motor, language, and intellectual functioning of a non-referred community sample of 49 preschool children with attention-deficit–hyperactivity disorder (ADHD; 39 males, 10 females; mean age 4y 7mo [SD 7mo]; range 3y 10mo–6y) and 48 typically developing children (38 males, 10 females; mean age 4y 8mo [SD 6mo]; range 3y 11mo–6y) matched by age, sex, and maternal education who underwent a broad battery of neurodevelopmental tests. The results showed that the scores of the ADHD group were significantly lower than the comparison group on all measures. In addition, 23 (47%) of the children with ADHD had clinically significant co-occurring deficits in two or more areas. Logistic regression indicated that the only significant predictors of group classification were scores of verbal intelligence and motor and sensory functioning, accounting for 44.1% of the variance. These findings suggest that preschool children with ADHD have multiple developmental deficits over and above the core symptoms of ADHD and emphasize the importance of evaluating the sensorimotor functioning of preschool children with ADHD symptoms.

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.

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.

This study examined whether major congenital structural anomalies identified in infancy occurred more frequently in children later diagnosed with autism spectrum disorders (ASD; n=417; 341 males, 76 females) than in comparison children (n=2067; 1681 males, 386 females). Participants were sampled from infants born at Kaiser Permanente Northern California facilities between 1995 and 1999 who remained health plan members for at least 2 years (n=88 163). Comparison children were frequency-matched to children with ASD according to sex, birth year, and birth hospital. Congenital anomalies were diagnosed in 10.8% of children with ASD and 6.2% of comparison children (crude odds ratio [ORc] 1.8, 95% confidence interval [CI] 1.3–2.6). This association remained significant after adjustment for key maternal and infant covariates (adjusted OR [ORa] 1.7, 95% CI 1.1–2.4). Almost all organ-system anomaly categories were more prevalent in children with ASD, however only gastrointestinal anomalies were significantly associated with ASD in adjusted analyses (1.9 vs 0.4%, ORa 5.1, 95% CI 1.8–14.1).

Cortical visual impairment (CVI) is now the most common cause of visual impairment in children. Little is known about the long-term visual outcome. This study evaluates the outcome of children with congenital CVI. Using medical records, 423 children (225 males, 198 females) were identified with congenital CVI. Of these children, 259 had follow-up visual acuity assessments. The children's gestational age varied with 32 weeks or less representing 15.9%; 33 to 36 weeks representing 10.7%; 37 to 42 weeks representing 61.2%; and 43 weeks or greater representing 0.9% (11.3% of patients' gestational age was unrecorded). Clinical data were extracted and information regarding outcome was gathered. The majority of children showed improvement in their visual acuity levels after 2 or more years of follow-up. For the 194 children initially assessed before 3 years of age, 97 had improved, 75 were unchanged, 18 had deteriorated, and 4 had sub-optimal assessments. For the 74 children initially assessed at 3 or more years of age, 23 had improved, 44 remained unchanged, 3 had deteriorated, and 4 had sub-optimal testing. Children with better visual acuity levels at follow-up were more likely to have favourable cognitive outcomes (non-mental retardation) in 12.2% versus 2.8% (p<0.01). Similarly, favourable motor outcomes (independent ambulation) were present in 20.1% for those with better visual acuities versus 7.9% for those with poorer visual acuities (p<0.01). Our study demonstrates that the majority of children with CVI underwent improvement in visual acuity. Additional disabilities were common, but those children with better visual acuity outcomes faired better. Given the frequency of comorbid conditions, appropriate diagnostic assessment services are needed.