Poor nutritional status and growth failure are common in children with cerebral palsy (CP). The aim of this study was to assess, within a subgroup of a large and clearly defined population of children with disabilities, the impact of feeding difficulties on (1) the quality (micronutrient intake) and quantity (macronutrient intake) of their diet and (2) their growth. One hundred children with disabilities (40 females, 60 males; mean age 9 years, SD 2 years 5 months; range 4 years 6 months to 13 years 7 months) underwent a detailed dietetic analysis and a comprehensive anthropometric assessment. Diagnostic categories of disability were: CP (n=90); global developmental delay (n=3); Marfan syndrome (n=1); intractable epilepsy (n=2); agenesis of the corpus callosum (n=2); methyl malonic aciduria (n=1); and congenital rubella (n=1). Neurological impairment was classified according to difficulty with mobility which was graded as mild (little or no difficulty walking), moderate (difficulty walking but does not need aids or a helper), and severe (needs aids and/or a helper or cannot walk). Results confirmed the significant impact of neurological impairment in children on body growth and nutritional status becoming worse in those with a greater degree of motor impairment. The major nutritional deficit was in energy intake, with only one fifth reportedly regularly achieving over 100% estimated average requirement (EAR), whilst micronutrient intake was less markedly impaired and protein intake was normal in this group (96% above EAR). Many children with neurological impairment would benefit from individual nutritional assessment and management as part of their overall care.

The aim of this study was to explore the effect of rater training on interrater reliability, internal consistency, standard error of measurement, and rater familiarity for the Melbourne Assessment of Unilateral Upper Limb Function. Twenty-four participants (raters) were randomly assigned to either ‘trained’ (n=12) or ‘untrained’ (n=12) interventions; they then scored the same nine video recordings of children completing the instrument. The age range of the children was 5 years 5 months to 12 years; there were six males, three females, all with spastic cerebral palsy (five with quadriparesis and four with hemiparesis); Gross Motor Function Classification System levels were I (n=3), II (n=3), III (n=1), and IV (n=2). All participants were novice occupational therapists and had no previous experience of using the instrument. A significant difference in perceived test familiarity was found after scoring but not before: trained raters scored higher. A significant difference in total scores for all cases was found and in eight of 16 individual item total raw scores. Again, trained raters scored higher. Interrater reliability was high in both groups, except item 6 (untrained). Internal consistency was high in both groups, except items 6 and 9 (untrained). We conclude that training for novice users increases familiarity and results in raters' perceiving higher levels of performance in some items. The Melbourne Assessment has high reliability even for novice users.

This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association between birth defects and newborn encephalopathy was found with defects affecting 27.5% of children with encephalopathy and 4.3% of control children (odds ratio 8.55; 95% confidence interval 5.25 to 13.91; p<0.001). In 11.8% of infants with a birth defect the defect was not diagnosed until after the newborn period, illustrating one of the difficulties in attempting to exclude infants with birth defects from studies of newborn encephalopathy. The majority of defects (89%) were not specific anomalies of the CNS. In 36.8% of children with encephalopthy who had a birth defect, the defect was considered to be the probable cause of the encephalopathy. Infants with birth defects who had encephalopathy had a poorer prognosis than those without: they were twice as likely to die by the age of 2 years and three times more likely to have cerebral palsy. This study catalogues the spectrum of birth defects associated with newborn encephalopathy and illustrates the importance of their inclusion when investigating both the aetiology and outcome of this condition.

This study presents a comprehensive evaluation of therapeutic motor interventions for children with or at risk for cerebral palsy (CP), examining 50 studies covering the period from 1990 to 2001. The purpose was to review noticeable changes in the scientific quality of the studies and to highlight trends and changes in the nature of the evaluated programmes. Our results were compared with those of Vermeer and Bakx (1990) who reviewed the period from 1980 to 1989. It was concluded that fundamental research with adequate methodology was applied more often in the study period than in the period reviewed by Vermeer and Bakx. However, these developments did not lead to a substantial improvement in the scientific foundation of the interventions under study. Single case studies, combined with efforts to develop measures specifically for children with CP and with high sensitivity, might make more valuable contributions to the scientific justification of therapeutic interventions.

The aim of this study was to examine the character of motor dysfunction in individuals with Angelman syndrome (AS). Thirty-three children and adolescents (median age 6 years, range 18 months to 23 years) were consecutively investigated for learning disability, epilepsy, and motor dysfunction to detect suspected AS. Twenty-three individuals (13 males, 10 females; median age 5 years 6 months, range 21 months to 23 years) fulfilled international consensus criteria for AS. Clinical diagnosis was supported by a positive DNA methylation test in eleven participants. Ten participants (seven males, three females; median age six years, range 18 months to 13 years) did not comply with consensus criteria for AS and were regarded as a comparison group. There was no significant difference between the AS and the comparison group regarding age or developmental level. Median developmental quotient level was 26 months (range 8 to 63 months); median gross motor developmental level in participants with AS was 24 months (range 8 to 60 months); median fine motor developmental level was 15 months (range 6 to 60 months). Muscle strength, spasticity, tremor, and coactivation were assessed: distal lower limb spasticity, ataxic like gait, stiff lower limbs, and the presence of coactivation during locomotion were significantly more frequent in participants with AS than in the comparison group (p<0.05). Asymmetry of muscle strength and spasticity were frequent. Neurological abnormalities were insufficient for a diagnosis of cerebral palsy and impeded function less than immaturity in both AS groups. Risk of increasing impairment needs to be anticipated to prevent negative long-term effects of muscle imbalance and motor asymmetries in individuals with AS.

Infantile bilateral striatal necrosis (IBSN) is characterized by a dystonic movement disorder and basal ganglia imaging abnormalities. Acute IBSN often occurs after upper respiratory tract infections although no specific micro-organism which may cause IBSN has been identified. We present 2 children (1 year 2 months and 4 years) with acute IBSN after clinical pharyngitis. Both IBSN patients had serological evidence of recent beta-haemolytic streptococcal infection. Due to the association of post-streptococcal disorders with anti-basal ganglia antibodies (ABGA), we examined both patients for anti-neuronal antibodies. For comparison, 20 children with dystonia (9 females, 11 males; mean age 4 years 1 month), and 20 children with uncomplicated streptococcal infection (12 females, 8 males; mean age 5 years 9 months) were examined. Both IBSN patients had antibodies reactive against basal ganglia constituents of molecular weight 40 kDa. Immunohistochemistry showed antibody reactivity against large striatal neurons only. Other anti-neuronal antibodies were negative, supporting striatal specificity. All controls were negative for ABGA. Acute IBSN is part of the post-streptococcal autoimmune neuropsychiatric spectrum. An autoimmune aetiology should be considered in this phenotype, as immunomodulatory therapies may reduce morbidity and mortality.

SPECT can be used to image regional cerebral blood flow (rCBF) and has been shown to help localize the seizure focus in partial epilepsies as part of the presurgical evaluation. Few studies have explored the possible relation between preoperative SPECT and underlying pathology, or any relation to postsurgical outcome. In this study preoperative ictal and interictal rCBF in relation to the histopathological diagnosis and outcome in a series of 35 children (24 females, 11 males; mean age 9.6 years, age range 11 months to 18 years) who had undergone resective surgery for epilepsy were retrospectively evaluated. A correlation between ictal hyperperfusion and the underlying responsible pathology was shown, with a consistent ictal increase in perfusion in developmental pathologies and Rasmussen's encephalitis, and consistent interictal hypoperfusion in hippocampal sclerosis (HS). No rCBF study parameter appeared to relate to outcome but in the group with HS the best outcome was seen in those with localizing ictal rCBF. The varied group of pathologies from hemispherectomy had excellent outcome but the SPECT findings had little to contribute over the abnormalities detected on MRI. In conclusion, rCBF studies remain a useful presurgical investigation in children with partial epilepsy, especially where HS, cortical dysplasia, or inflammatory disease are the underlying pathology. However, rCBF studies add little to the investigation of children with seizures secondary to benign tumours or cerebral infarcts, or where hemispherectomy is the likely preferred surgical option.

Ataxia is the cardinal sign of cerebellar dysfunction and when it occurs, it indicates the possibility of cerebellar lesions. However, this may not always be the correct explanation. Appenzeller and Hanson reviewed studies, published between 1916 and 1953, of patients with cerebellar signs attributed to parietal lesions. Extensive lesions within the parietal lobes and sensory changes were common in these patients. They also reported on an adult who presented with pain and weakness of the left arm, lasting for 2 hours. When examined 2 weeks later, the limb was severely ataxic, but with no detectable weakness or sensory deficit. In addition, the patient had a dressing apraxia. At autopsy a small infarct in the arm area of the right postcentral gyrus was observed. The cerebellum and brainstem were normal.

The aim of this study was to establish correlations between minor neurological findings and developmental performance. A cohort of 72 preschool children was studied (38 females, 34 males; mean age 3 years 8 months, SD 1 year 2 months, range 2 to 5 years) who were considered to be at high risk due to placental insufficiency. The cohort was divided into four categories of neurological status: (1) minimal cerebral palsy (MCP) with independent walking before age 2 years; (2) Amiel-Tison triad (ATT) including imbalance of passive axial tone, phasic stretch reflex in triceps surae, and cranial signs, particularly on the squamous suture; (3) intermediate with one or two of the three ATT signs; and (4) absence of neurological findings. Six subscales of the Griffiths Mental Developmental Scales assessing locomotion, eye–hand coordination, interpersonal skills, language, performance, and practical reasoning were administered. Significant differences were found according to neurological status in three specific domains of development: coordination (F=2.84, p=0.04), language (F=3.65, p=0.02), and practical reasoning (F=3.62, p=0.02). In addition, significant differences were also found in language (L) and practical reasoning (R) performances according to the side of the abnormal stretch reflex: bilateral stretches (L=87.8; R=75.3) or an isolated right stretch (L=95.3; R=83.6) are more strongly associated with impaired developmental performances than an isolated left stretch (L=101.3; R=88.2) with F=2.94; p=0.04 for language and F=3.00, p=0.04 for practical reasoning. We concluded that a short neurological examination, easily performed by pediatricians and family practitioners, can identify permanent markers of minor brain damage occurring before, during, or soon after birth and so anticipate consequences.

The past decade has seen unparalleled advances in the application of molecular genetic methods to the study of neurodevelopmental disorder, including disorders with significant learning disability. Alongside this development there has been a substantial growth in the number of studies attempting to link genomic changes (deletion, reduplication, or silencing of genes) to cognitive and behaviour outcomes: in essence to link genotype to phenotype. A main benefit of this approach is that it permits an insight into the range of strengths and difficulties that can be associated with a disorder which in turn can guide the general management of children and adults with genetic causes of learning disabilities. One such disorder that has attracted attention in recent years is Cri du chat syndrome (CDC), first described by the French paediatrician Lejeune in 1963 who coined the term ‘cri du chat’ (‘cry of the cat’). Indeed, the hallmark cat cry is still regarded as an important early clinical diagnostic feature of this syndrome in some but not all affected newborn infants. Further research in the 1960s and 70s resulted in the publication of numerous case reports and a triad of clinical features became associated with CDC: the cat-like cry, dysmorphic facies, and profound global learning disability. It is now recognized that this triad does not present in all patients. Additional clinical features were also cited as being significantly over-represented in the condition. These included increased early childhood morbidity, restrictive language skills, and severely delayed psychomotor development. This somewhat pessimistic portrayal of CDC was challenged in the 1980s by the findings obtained from population-based studies and questioned more intensely in the 1990s as advances in molecular genetics allowed greater clarification of the syndrome's genotype and more detailed cognitive and behavioural studies demonstrated wider variability within the phenotype.

The purpose of this study was to identify group differences in children with attention-deficit–hyperactivity disorder and motor dysfunction (ADHD-MD) and ADHD only, and to evaluate the medication responsiveness of ADHD-MD. Sixty-three children (49 males and 14 females; mean age 9 years 10 months, SD 2 years 10 months) underwent a triple blind, placebo-controlled crossover study evaluating two dose levels of methylphenidate (0.3 mg/kg and 0.05 mg/kg, twice daily) and placebo. Forty-nine trials were completed. Nineteen were children with ADHD-MD, 44 had ADHD only. Behavior and functioning were assessed at home and at school. Treatment effects were assessed using the Abbreviated Symptom Questionnaire for Parents and Teachers. Children with ADHD-MD were more likely to have severe ADHD-combined type and other neurodevelopmental and behavioral problems. Both groups of children had a linear dose response to medication (placebo, low, high) and there was no evidence of a group by dose interaction or an overall group effect at home or school. The lack of group effect suggests that these children responded to medication like the other subgroups.

The relationships between different levels of severity of ambulatory cerebral palsy, defined by the Gross Motor Function Classification System (GMFCS), and several pediatric outcome instruments were examined. Data from the Gross Motor Function Measure (GMFM), Pediatric Orthopaedic Data Collection Instrument (PODCI), temporal–spatial gait parameters, and oxygen cost were collected from six sites. The sample size for each assessment tool ranged from 226 to 1047 participants. There were significant differences among GMFCS levels I, II, and III for many of the outcome tools assessed in this study. Strong correlations were seen between GMFCS level and each of the GMFM sections D and E scores, the PODCI measures of Transfer and Mobility, and Sports and Physical Function, Gait Velocity, and Oxygen Cost. Correlations among tools demonstrated that the GMFM sections D and E scores correlated with the largest number of other tools. Logistic regression showed GMFM section E score to be a significant predictor of GMFCS level. GMFM section E score can be used to predict GMFCS level relatively accurately (76.6%). Study data indicate that the assessed outcome tools can distinguish between children with different GMFCS levels. This study establishes justification for using the GMFCS as a classification system in clinical studies.

Cerebral venous sinus thrombosis (CVST) is a rare but potentially serious disorder in children. There is no literature on the long-term neuropsychological and emotional sequelae and implications for quality of life. We studied 17 children who had CVST after the neonatal period, aged between 1 month and 16 years at the time of CVST (mean age at CVST was 6 years, median 4 years 8 months). Five children died during follow-up. The cause of death was related to CVST in one child. Twelve children participated in a clinical follow-up assessment. Mean follow-up was 2 years 8 months. One child had physical sequelae with impairment of skilled movement. All children had average or high intelligence scores. Two children with CVST due to an uncomplicated mastoiditis had mild cognitive deficits: one child had difficulty with written language; the other had diminished cognitive efficiency with concentration and attention problems associated with decreased psychosocial functioning. Decreased physical well-being was reported in three of 12 children. We conclude that children who had survived CVST had a fair prognosis. Most had normal cognitive and physical development, although mild cognitive deficits or decreased physical and psychosocial well-being can occur.

We assessed the architecture of the medial gastrocnemius in nine children (five males, four females; age range 6 to 15 years; mean 10 years 10 months, SD 3 years 6 months) with spastic diplegia by ultrasound imaging before and after a gastrocnemius recession. The children were ambulant (seven independent, one with a posterior walker, one using crutches) before and after surgical intervention. We compared values for fascicle lengths and deep fascicular-aponeurosis angles with those from a group of normally developing children (five males, five females; age range 6 to 11 years; mean 8 years 4 months, SD 1 year 4 months). Despite a variable interval between assessments (from 56 to 610 days), fascicles were shorter (p=0.00226) and the deep fascicular-aponeurosis angle increased (p=0.0152) after intervention. Fascicle lengths of patients were similar to those in the group of normally developing children before surgery. After surgery, fascicles in the group of children with spastic diplegia were shorter than in their normally developing peers (p=0.00109). The gastrocnemius recession procedure alters muscle architecture, though the degree of fascicular shortening varied, with four of the participants in our study losing less than 10% of their original fascicular length at maximum dorsiflexion. Increases in ankle-joint power in walking, observed after surgical intervention in children with spastic diplegia, may be due to a more normal ankle position rather than to improvements in the active mechanical performance of the gastrocnemius.

Using a population-based register, this study sought to ascertain changes in the rate and severity of cerebral palsy (CP) in a geographically defined area of the UK among infants weighing less than 1500g and born between 1984 and 1995. There were 417414 live births in the area, which included Berkshire, Buckinghamshire, Northamptonshire, and Oxfordshire. Of the 898 children with CP (526 males, 372 females), 194 (21.6%) weighed less than 1500g at birth. The overall CP rate for neonatal survivors fell from 2.5 out of every 1000 in 1984 to 1986 to 1.7 in 1993 to 1995. The rate for those weighing less than 1000g rose to 90 out of every 1000 neonatal survivors in 1987 to 1989 and then fell to 57 in 1993 to 1995. A similar pattern is seen among infants weighing 1000 to 1499g at birth, the rate rising to 77 in 1987 to 1988 and then falling to 40 in 1993 to 1995. The rate of severe motor disability among infants weighing less than 1500g also decreased (24.6 in 1984–1986 to 12.5 in 1993–1995). The relation of these findings to changes in perinatal care in the early 1990s is not known.

The incidence of spina bifida has dropped significantly in many countries over the last several years. This change has occurred secondary to the use of folic acid, and prenatal diagnosis with termination of pregnancy. The overall care of children with spina bifida has also changed substantially in the past 30 years. These changes have occurred in all specialties: neurosurgery, urology, orthopaedics, rehabilitation, and orthotics.

Management of a painful or contracted hip dislocation in individuals with severe spastic quadriplegia is difficult. Clinical and radiographic results of 12 proximal femoral resection–interposition operations performed in seven non-ambulatory persons (five males, two females; mean age 14 years, 8 months; age range 6 years 11 months to 19 years 8 months) with severe spasticity were reviewed to determine if pain relief and restoration of motion were maintained. At a mean follow-up of 7 years 7 months (median 9 years 6 months) all participants maintained a good sitting position and a functional range of motion with improved hygiene. Hip pain was improved in all participants compared with their preoperative status. Proximal femur migration occurred causing slight pain in one person. Heterotopic ossification was observed but was not clinically significant. Complications included traction pin loosening and infection and a late supracondylar femur fracture 3 months after the operation. Proximal femoral resection effectively decreased pain and restored hip motion in those with severe spastic quadriplegia leading to improved sitting and perineal care.