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.

This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.

Using a semi-structured questionnaire, this descriptive study examined perceptions of feeding and adherence to feeding recommendations for caregivers (26 females; mean age 32y 7mo [SD 9.4y], range 20–59y) of children with cerebral palsy (CP) and a gastrostomy tube (GT). Children in the study (15 females, 11 males; mean age 4y 8mo [SD 3y 11mo], range 8mo–16y) had had a GT in place for at least 1 month and been assessed at Level II (n=2), Level III (n=2), Level IV (n=5), and Level V (n=17) of the Gross Motor Function Classification System. A negative response was reported by 18 caregivers when the GT was recommended; however, 21 caregivers reported improvement in the children following placement. All children received formula through the GT that was adequate for complete nutrition, yet 14 caregivers gave other foods through the GT (e.g. juice, cereal, soup, or table food). Of the 17 children receiving oral feedings, meals were an unpleasant experience for over half. Of the remaining nine children, in spite of a strict nil by mouth recommendation by physicians, five continued to receive some oral feedings. Generally, caregivers perceived GT feeding as ‘unnatural’. Understanding these perceptions will help clinicians to develop effective, family-centered, patient-appropriate intervention and adherence strategies for GT-fed children with CP.

From 1975 to 1 January 1999, 1103 neurologically involved patients (mean age 13.2 years; 686 males, 417 females) referred with problematic drooling, or sialorrhea, were assessed at a pediatric rehabilitation center by a team consisting of an otolaryngologist, speech pathologist, and a dentist. The initial standard treatment for persistent sialorrhea (in the compliant or aware patient) is oral-motor training. A group of 522 patients with persistent significant drooling after a minimum of 6 months of oral-motor training, or profuse drooling in the presence of a low cognitive level, underwent surgery, usually when over 6 years of age. From 1978 to 1 January 1998, the operation of first choice was submandibular duct relocation (SDR), and was completed in a total of 226 patients. Midway through 1988, sublingual gland excision was also completed at the time of submandibular duct relocation (SDRSGE); 249 of these procedures have been completed to January 1st 1999. Those patients who had SDRSGE had significantly fewer complications that required additional surgery than those that had SDR only. However, the impact of surgery on the drooling as evaluated in subsets of both groups (SDR n=115, SDRSGE n=106) was statistically similar. The study of 11 children with salivary gland radionuclitide scans to determine the effect of submandibular duct surgery on gland function was inconclusive. The pattern of oral-motor function in 26 children studied after SDRSGE surgery suggested that those children with severe impairment of volitional motor function and profuse drooling tended to have a poorer outcome following surgery compared to those with milder impairments.

A neurodevelopmental model for understanding the spectrum of developmental disabilities postulates that developmental delay, dissociation, and deviance reflect underlying central nervous system dysfunction. In this study, we determined the occurrence of the dissociated and developmentally deviant behavioral profile of attention-deficit–hyperactivity disorder (ADHD) among children with and without developmental cognitive delays (borderline-to-mild intellectual disability) in a population-based birth cohort (n=5718). Among the 70 children identified to have borderline-to-mild intellectual disability, 30% (n=21; 7 females, 14 males) met research criteria for ADHD, compared to only 6.4% of children without intellectual disability (n=358; 88 females, 270 males). The odds ratio for comorbid ADHD for children with versus without borderline-to-mild intellectual disability was 6.3 (95% confidence interval: 3.7–10.6; p<0.001). These data illustrate that developmental dissociation and/or deviance, as represented by ADHD, are more likely to occur in the context of developmental delay, represented by borderline-to-mild intellectual disability.

In 73 patients with myelomeningocele (mean 17.2 years, range 5 to 40 years) the classification of level of lesion was studied according to six commonly used classification systems and to the ambulation groups of Hoffer. The distribution of the patients into classes of thoracic-level lesions was the same for four classification systems in 10 patients and for two classification systems into categories of level L3 in 14 patients. For the other patients discrepancies occurred between systems for lesions of level L3 and downward. None of the patients was consistently categorized in the functional ambulation groups of Hoffer using all classification systems. The results show that it is not possible to compare neurological lesion levels classified according to the different systems described in this study and consequently that the distribution into the functional ambulation groups of Hoffer varies. To enhance communication and facilitate comparing the results of treatment we suggest using some basic criteria for patient documentation.

In a representative series of 176 children with cerebral palsy (CP), aged 5 to 8 years, associations were studied between additional neuroimpairments, activity limitations, and participation restrictions in the domains of mobility, education, and social relations as proposed in the International Classification of Functioning Disability and Health (ICF). Learning disability occurred in 40%, epilepsy in 35%, visual impairment in 20%, and infantile hydrocephalus in 9% of the children. Additional neuroimpairments were most frequently seen in children with tetraplegia and dystonic CP and in those with antecedents of brain malformations or severe perinatal compromise. Activity limitations were studied with the Gross Motor Function Classification System (GMFCS) and a system for grading bimanual fine motor function (BFMF) was developed. There was a strong correlation of 0.74 between the GMFCS and BFMF (p<0.001). Learning disability, activity limitations, and participation restrictions were all clinically strongly associated with each other (p<0.001). Restriction in mobility was best predicted by the GMFCS, learning disability, and the BFMF; in education by learning disability and the GFMCS; and in social relations by learning disability, the GMFCS, and BFMF. Motor function and learning disability were important predictors for participation restrictions in children with CP. The ICF has the capacity to be a model to help plan interventions for specific functional goals and to ascertain the child's participation in society.

The aim of this study was to assess visual function, including visual perception, in a geographically-based population of school-aged children, with a median age of 7.2 years (range 5.1 to 9.3 years), born before 29 weeks of gestation to mothers living in Göteborg, Sweden. Fifty-one preterm children participated in the study, six of whom had known brain lesions. Visual acuity, visual fields, stereoacuity, and visual perception were tested. The Test of Visual Perceptual Skills – Revised (TVPS-R, Gardner 1996) was used to measure visual perception, and the results were compared with those of 50 term (control) subjects. Six percent of the preterm children were visually impaired, with a visual acuity of less than 0.3 (6/18), while 42% of all the preterm children and 34% of those without known brain lesions had a total score below the 5th centile of the reference material for the test, compared with 14% of the control subjects. In conclusion, visual–perceptual problems seem to be common among very preterm children and should be screened for and assessed before the children start school.

This study evaluates the reliability of isokinetic testing of the knee flexors and extensors in children with cerebral palsy (CP). Twelve children (seven girls, five boys), aged 9 to 15 years, participated in this study. The children's strength was measured bilaterally, using a dynamometer. Each participant was tested twice at an interval of 1 week. During each session, the participant performed five consecutive cycles of knee extension and flexion. Testing velocity was set at 90°/s, and the range of motion was 80°, starting with the knee flexed at 80° and ending in full extension. The measured variable was the peak torque. Reliabilities were determined using intraclass coefficient (ICC) with two-way ANOVA model. The ICCs for individual sessions range from 0.90 to 0.99. ICCs for the eight repetitions over the two sessions range from 0.95 to 0.98. The findings indicate that measuring isokinetic strength in the tested population is highly reliable and should be considered in rehabilitation protocols.

The Unilateral Below Elbow Test (UBET) was developed to evaluate function in bimanual activities for both the prosthesis wearer and non-wearer. Nine tasks were chosen for each of four age-specific categories defined by development stages of hand function (2–4y, 5–7y, 8–10y, and 11–21y). Two scales, Completion of Task and Method of Use, were designed to rate performance. To measure reliability, four occupational therapists scored samples of videotaped UBET performances. For Completion of Task, an interval scale, agreement in scoring was measured with interclass correlation coefficients (ICC; n=9; five females, four males). For Method of Use, a nominal scale, chance-adjusted association was calculated with Cohen's kappa coefficients (interobserver n=198; 111 females, 87 males; intraobserver n=93; 56 females, 37 males). For Completion of Task, the average ICC was 0.87 for the prosthesis-on condition, and 0.85 for the prosthesis-off condition. ICCs exceeded 0.80 for eight out of nine tasks for the two older age groups, but for only five out of nine tasks in the younger age groups. Higher inter- and intraobserver kappa coefficients for Method of Use resulted when scoring children with their prostheses on versus off. The oldest age group had lower kappa values than the other three groups. The UBET is recommended for the functional evaluation of Completion of Task in children with unilateral congenital below elbow deficiency with and without their prostheses. Method of Use scoring can evaluate individuals for directed therapy interventions or prosthetic training.

A systematic search was performed of all articles from January 1995 to December 2005 published in peer-reviewed journals on children with developmental coordination disorder (DCD). Criteria were applied to ensure that articles included DCD so 319 articles were included in the analysis. Since the publication of a systematic search conducted in 1994, the number of publications in this field has greatly increased across countries and disciplines. The term DCD was used in 52.7% of the articles. Other terms were used less frequently: clumsy children (7.2%), developmental dyspraxia (3.5%), handwriting problems (3.1%), hand–eye coordination problems (2.8%), sensory integration dysfunction (2.5%), deficits in attention, motor control, and perception (2.5%), minor neurological dysfunction (2.2%), and several other scattered terms (23.5%). The data indicated that progress has been made in the usage of the term DCD, but a standardized approach has not yet been achieved. Without consistent use of the term DCD, there is limited communication of research results internationally, slowed progress in understanding the condition, and limited development of intervention and management programmes for children with DCD.

The purpose of this study was to investigate early electroclinical manifestations and evaluate treatment responses by video-EEG in infants with newly diagnosed spasms. Spasms were recorded in 44 infants (27 males, 17 females) before adequate treatment. Mean ages at onset of spasms and at first video-EEG were 5.3 months (range 0.9 to 9 months) and 5.9 months (range 2.4 to 11.5 months) respectively. Thirteen infants had cryptogenic and 31 had symptomatic aetiology. First treatment was vigabatrin in 36 infants. All infants were followed until 12 months of age or death. Treatment response in the first months of therapy was assessed by repeated video-EEG studies in 23 infants. On the first video-EEG, 34 infants had typical symmetric motor spasms, three infants showed asymmetric or asynchronous behaviour, and seven infants had only subtle spasms. Interictal EEG showed hypsarrhythmia in 27 infants and multifocal spikes with normal or nearly normal background in 17 infants. Subtle spasms, asymmetric or asynchronous spasms, and asymmetric ictal or interictal EEG abnormalities were associated with symptomatic aetiology and poor cognitive and seizure outcome at 12 months. Serial video-EEG recordings showed a transition from motor to subtle spasms during the first 2 weeks of vigabatrin therapy in four infants and only subtle spasms in two therapy-resistant infants at 12 months. Cessation of spasms usually preceded disappearance of hypsarrhythmia or multifocal spikes, but persistence of multifocal spikes over several weeks was always associated with existing spasms. Transition of hypsarrhythmia into multifocal spikes was observed during vigabatrin therapy even in infants with intractable spasms. Initial diagnosis of infantile spasms requires video-EEG studies especially in infants with symptomatic aetiology who may show only subtle spasms. Video-EEG is the only reliable method for assessing treatment response as spasms and interictal EEG abnormalities are modified by treatment and may become subtle.

As a result of intensive treatment techniques and care, the outcome for infants born prematurely has greatly improved over recent years, resulting in an increased survival rate among preterm infants, particularly at younger gestational ages. Such infants have a greater risk of neuropathology. This may explain why the incidence of major disabilities such as cerebral palsy (CP) has remained virtually unchanged over the past two decades and why, apart from major disabilities, the number of preterm infants who experience developmental problems later in life has increased. It is still unclear how the infant's prematurity contributes to such adverse conditions.

The aims of the study were to describe the functional ability, health status, and health-related quality of life (HRQL) of young children with a vision impairment or blindness (VI/BL) and to examine the effect of different types of ophthalmic condition and the presence of other impairments or systemic disorders. A cross-sectional community survey of children aged 3 to 8 years with VI/BL was conducted in four areas of England using the Health Utilities Index Mark 3 system. Seventy-nine children (47 males, 32 females; mean age 6y 2mo [SD 1y 6mo]) met the selection criteria: 43% had a visual pathway condition, 38% a condition of the eye, and 19% nystagmus alone; and 61% had additional impairments/disorders. Eighty per cent had functional limitations on at least two of the following attributes: vision, hearing, speech, cognition, ambulation, dexterity, emotion, and pain. Forty-four per cent had functional limitations on four or more attributes. Children with nystagmus alone had significantly higher mean HRQL utility scores (0.80 [SD 0.26]) than children with a condition of the eye (0.45 [SD 0.33]), who, in turn, had higher scores than children with a visual pathway condition (0.05 [SD 0.33], p=0.002). Children with an isolated VI/BL had significantly higher mean scores (0.73 [SD 0.21]) than those with additional impairments/disorders (0.09 [SD 0.34], p<0.001). These findings underline the need for a broad assessment of each child with VI/BL and a multidisciplinary approach to care.

The aim of this study was to apply the International Classification of Impairments, Disabilities and Handicap (ICIDH; WHO 1980) parallel to the Gross Motor Function Classification System (GMFCS; Palisano et al. 1997) in a population-based series of children with cerebral palsy (CP). Of the 116 children studied, birth characteristics, data on gross motor function, and level of handicap at 5 to 6 years of age, were retrospectively collected from medical records and documentation made by rehabilitation team members. Low handicap scores and mild levels of gross motor disability were present in children with hemiplegic CP, moderate scores in children with diplegic CP, simple ataxia, and athetotic CP, and high scores in children with dystonic CP and tetraplegic CP. A significant correlation was found between high handicap scores as well as high levels on the GMFCS and the presence of learning disability, epilepsy, and obvious aetiology of CP. A strong correlation was found between the handicap code and the GMFCS, the strongest concerning the dimension of mobility (r=0.95, p<0.0001). A striking similarity in the grading of disability was present between the ICIDH handicap code and the GMFCS. The GMFCS is considerably less time-consuming and can be evaluated retrospectively. The handicap code requires more detailed information and is more useful for a comprehensive profile of the child.

This case series presents the outcomes of seven females with Rett syndrome and medically refractory epilepsy who were treated with adjunctive vagus nerve stimulation (VNS) therapy for a minimum of 12 months. Patients ranged in age from 1 to 14 years (median age 9y) at the time of implantation, had experienced seizures for a median period of approximately 6 years, and had failed at least two trials of antiepileptic drugs before receiving VNS. The median number of seizures per month was 150 (range 12–3600). At 12 months, six females had [ges ]50% reduction in seizure frequency. VNS was safe and well tolerated, with no surgical complications and no patients requiring explantation of the device. Quality of life outcomes of note among these patients included reports at 12 months of increased alertness among all seven patients. No change in mood or communication abilities was noted.

The social model of disability and the new sociology of childhood emphasize respectively the relevance of the environment to participation and the importance of quality of life. Such ideas can be readily understood by and shared among parents, young disabled people, professionals, and planners. They also make clearer what professionals are trying to do when supporting disabled children and their families. This article discusses these concepts and shows how they must be expressed in quantitative terms if they are to influence research, planning, and clinical practice.

Alpers syndrome was not clearly defined until the link between brain and liver disease was described. Alpers syndrome can now be clearly established as a disorder of oxidative metabolism related to mitochondrial dysfunction, and in most instances with an autosomal mode of inheritance. The symptoms and signs are discussed. The illness occurs in the first years of life with the sudden onset of intractable seizures associated with developmental delay, hypotonia, ataxia, cortical blindness, and hepatic failure, and death occurs within a short time. Treating the seizures with valproic acid can cause the rapid onset of liver failure and must be avoided. To establish a definite diagnosis, liver and muscle biopsies may be needed. The former shows bile duct proliferation with the evidence of cirrhosis, and the latter may support the involvement of the mitochondrial respiratory chain if there are ragged-red fibres. Genetic studies can show an association with mitochondrial DNA depletion and mutations in the polymerase gene. Cytochrome c oxidase deficiency has been demonstrated in some patients. Useful diagnostic tests include liver function tests, lactic acid levels in the blood and cerebrospinal fluid, electroencephalograms, computed tomography, and magnetic resonance imaging. The differential diagnosis will be from other forms of neuronal degeneration and disorders of mitochondrial function. There is no specific treatment, which must await further research into causes.

Intelligence is reported to decline after onset of moyamoya in Japanese populations, but there is less evidence for this in Western populations where the condition may be secondary to stroke and sickle cell anaemia (SCA). Preoperative longitudinal IQ data were obtained from 15 children (seven males, eight females) who developed moyamoya syndrome (MMS) following a stroke (six with SCA, nine without SCA), and 19 controls (10 males, nine females; nine healthy control participants, 10 with SCA). At baseline assessment (Time 1) median age of patients was 7 years 6 months (range 3y 7mo to 12y 5mo); median age of controls was 6 years 3 months (range 4y to 11y 6mo). At follow-up (Time 2), ages were 11 years 8 months (range 3y 7mo to 12y 5mo) and 12 years 8 months (range 6y 4mo to 16y 8mo) in patients and controls respectively. Median duration of follow-up for the patient group was 3 years (range 7 to 10y) and in controls, 4 years 1 month (range 1 to 10y). In children with SCA, Verbal and Performance IQs (VIQ and PIQ) were significantly lower than in controls at Time 1; there was an additional independent statistically significant reduction in PIQ associated with MMS (p=0.004). Although there were further significant reductions in IQ by the second assessment for patients with MMS compared with controls, IQ did not differ significantly between groups with and without SCA. While the reduction in IQ attributed to SCA does not appear to become more marked with increasing age, the difference between those with and without MMS is associated with increasing effect over time.

Forty-two infants (20 males, 22 females) with classical phenylketonuria (PKU) entered a prospective, double-blind, randomized study to investigate the effects on biochemical and physiological outcomes of a phenylalanine-free infant formula containing a fat blend supplemented with the long-chain polyunsaturated fatty acids (LC-PUFA), docosahexaenoic acid (DHA, C22:6n–3), and arachidonic acid (AA, C20:4n–6). Between entry and 20 weeks (entry and 1y) of age, median DHA levels in erythrocyte membrane phospholipids decreased by 15% (22%) in the LC-PUFA supplemented group (n=21) and by 61% (64%) in the control group (p<0.001; n=18). A dietary supply of LC-PUFA in infants with PKU prevents the decline in DHA levels associated with a diet supplying minimal sources of LC-PUFA. DHA status in turn, independent of diet, may influence the maturation of the visual system in infants with PKU.