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.

It is well known from behavioural experiments that children with specific language impairment (SLI) have difficulties discriminating consonant–vowel (CV) syllables such as /ba/, /da/, and /ga/. Mismatch negativity (MMN) is an auditory event-related potential component that represents the outcome of an automatic comparison process. It could, therefore, be a promising tool for assessing central auditory processing deficits for speech and non-speech stimuli in children with SLI. MMN is typically evoked by occasionally occurring ‘deviant’ stimuli in a sequence of identical ‘standard’ sounds. In this study MMN was elicited using simple tone stimuli, which differed in frequency (1000 versus 1200Hz) and duration (175 versus 100ms) and to digitized CV syllables which differed in place of articulation (/ba/, /da/, and /ga/) in children with expressive and receptive SLI and healthy control children (n=21 in each group, 46 males and 17 females; age range 5 to 10 years). Mean MMN amplitudes between groups were compared. Additionally, the behavioural discrimination performance was assessed. Children with SLI had attenuated MMN amplitudes to speech stimuli, but there was no significant difference between the two diagnostic subgroups. MMN to tone stimuli did not differ between the groups. Children with SLI made more errors in the discrimination task, but discrimination scores did not correlate with MMN amplitudes. The present data suggest that children with SLI show a specific deficit in automatic discrimination of CV syllables differing in place of articulation, whereas the processing of simple tone differences seems to be unimpaired.

The aim of the present study was to generate normal reference data for anterior and middle cerebral artery blood flow velocity and resistance index in preterm and term infants during the first 8 hours of life. The study population longitudinally included 120 healthy preterm and term infants (gestational age 24 to 41 weeks), all of appropriate weight for gestational age. The following parameters were studied: peak-systolic velocity, end-diastolic velocity, mean velocity, and resistance index. All parameters were measured in the anterior cerebral artery, in the left middle cerebral artery, and in the right middle cerebral artery with the use of Doppler colour ultrasonography. In addition, we studied the ratio of mean arterial blood pressure to mean velocity in the three cerebral arteries as a further estimate of cerebral relative vascular resistance. We found that cerebral blood flow velocities increased significantly with increasing gestational age and birthweight, both in the anterior cerebral artery and in the right and left middle cerebral arteries. Resistance index, both in the anterior cerebral artery and in the middle cerebral arteries, increased significantly only with increasing gestational age. Relative vascular resistance decreased significantly with increasing gestational age and birthweight in the three cerebral arteries. Significant differences were found (p<0.05) in these values between the anterior cerebral artery and the middle cerebral arteries. The narrow time frame (2 to 8 hours) that we used to evaluate cerebral blood flow velocity often represents a significant moment at which decisions are made that can be fundamental for the outcome of the newborn infant.

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.

The medical findings from a population-based study of Prader-Willi syndrome (PWS) are discussed (in which birth incidence of PWS was estimated at 1:22000 and death rate at over 3% per annum). In this study the prevalence of specific medical disorders that might account for a shortened life expectancy were investigated. Of all people with a possible diagnosis of PWS, only those meeting clinical criteria and/or with a confirmed genetic diagnosis were included in the study. Sixty-six individuals, 40 males and 26 females with a mean age of 19 years (range of 0 to 46 years) agreed to participate in the population-based study group. A prevalence rate of 25% for non-insulin dependent diabetes mellitus (NIDDM) was found in adults. Mean age at onset was 20 years. Those with NIDDM had a higher past maximum body weight and a greater likelihood of positive family history. Nearly 50% across the age groups reported a history of recurrent respiratory infections. High rates of fractures (29%), leg ulceration (22% in adults), sleep disorders (20%), and severe scoliosis (15% in childhood) were also reported. It is postulated that hypotonia is a possible contributory factor to the risk of strabismus, scoliosis, and respiratory infections. Other causes of morbidity, in particular the high rates of NIDDM, may be due to a failure to manage over-eating resulting in severe obesity. Early diagnosis and clear guidance to families about these risks and how they might be prevented is recommended. It is hypothesized that the high pain threshold may result in the presence of some illness not being apparent.

The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) is a quick test to screen children with higher-functioning disorders and to define the patterns of their disorders. After standardization tests in 500 normally developing children aged 4 to 8 years, validation consisted of comparative evaluation of the specificity and sensitivity of the BREV with a wide reference battery in 202 children with epilepsy (108 males, 94 females; mean age 6 years 6 months, SD 1 year 8 months). Children were divided into 10 age groups from 4 to 8 years of age and represented eight epileptic syndromes. The reference battery included verbal and non-verbal intelligence assessment using the Wechsler scale, oral language assessment with a French battery for oral language study, drawing with the Rey figure, verbal and visuo-spatial memory with the McCarthy scale subtest and the Rey figure recall, and educational achievement with the Kaufman subtests. Every function evaluated with the BREV was significantly correlated with the reference battery testing a similar function (p=0.01 to 0.001). Specificity and sensitivity of the BREV verbal and non-verbal scores were correlated with those of the Wechsler scale in more than 75% of children. The BREV, therefore, appears to be a reliable test which has been carefully standardized and validated and is valuable in screening for cognitive impairment in children.

The relationship between positron emission tomography (PET) findings and developmental or seizure outcome was examined in 17 infants (11 males, six females; mean age at onset of spasms 7 months, range 3 to 26 months) with newly diagnosed cryptogenic West syndrome. The predictive value of PET in these infants was assessed. PET was performed in the infants at the onset of spasms and 3 months after initial therapy using 18F-labelled 2-deoxy-2-fluoro-D-glucose. A third PET was performed at 18 months of age if the second scan was abnormal. All infants were followed up until at least 3 years of age. Cortical hypometabolism was detected in 11 infants on the first PET and in five infants on the second. Rate of developmental delay at the last follow-up was significantly higher in infants with hypometabolism on the second PET than in those without PET abnormalities (p<0.05). Rate of seizure occurrence after initial treatment was higher in infants with cortical hypometabolism on the second PET, but the difference was not statistically significant. Results suggest that when PET after the initial treatment shows no abnormalities, even though the first PET shows hypometabolism, infants with cryptogenic West syndrome may have a favourable developmental or seizure outcome. PET may be a useful tool in evaluating the prognosis in infants with cryptogenic West syndrome.

This study retrospectively investigated the developmental perspective of 69 children (40 males, 29 females) with ‘potentially simple’ congenital disorders of the peripheral visual system: development was examined in the context of degree of visual impairment. Developmental and visual assessments were carried out at 10 to 16 months (Time 1) and 27 to 54 months of age (Time 2). Participants were grouped according to (1) visual status: profound visual impairment (PVI), severe visual impairment (SVI); (2) developmental status on the Reynell–Zinkin scales. A majority of the sample showed normal development on all subscales (62% Time 1, 57% Time 2). Those with PVI were more developmentally vulnerable than SVI with a greater incidence of (1) uneven developmental profile at Time 1 (48% PVI, 16% SVI); (2) global learning difficulties at Time 2 (37% PVI, 0% SVI); (3) delay on individual subscales at Time 2 (p<0.02 PVI versus SVI); (4) deceleration (verbal comprehension 74% PVI, 24% SVI, sensorimotor understanding 70% PVI, 27% SVI); and (5) severe developmental setback (33% PVI, 7% SVI). Risk factors of visual level, age, and sex for poor developmental outcome in infants with visual impairment were established.

Functional outcome and provision of care to 82 children (males: females 2.7:1; age range 0 to 16 years) with severe head injury were investigated. The children were admitted to the intensive care units of the Regional Neuroscience Units of the Greater Manchester and Lancashire districts of the North West Region of the UK between 1994 and 1996. A questionnaire was devised based on 12 areas of recovery and data were collected at discharge and 6 weeks, 6 months and 12 months from discharge. Data were collected during home visits and at joint assessment at 12 months with the district consultant community paediatrician (CCP). Early involvement of the CCP enhanced the provision of needs at discharge and 6 weeks after discharge, as did a period of stay in district-level care before discharge home. CCPs received formal notification of the injured child in only 32% of cases by discharge, and 54% of cases by 6 months. Sixty-five per cent of children required early educational support but structured help reached only 55% of these children by the end of the study. Integrated planning between health and education was achieved in about half of the study population. Good physical recovery was achieved by the majority of children but parents said they did not feel prepared for the degree of help which their child still required 12 months after discharge. Children who required anticonvulsants at 12 months' follow-up scored significantly lower on cognitive potential. Psychosocial family functioning deteriorated in a substantial number of families according to parental perception. Prevalence of this perception did not diminish over the study period. Aspects of caregivers' understanding and the child's language deficits, self-care skills, fine and gross motor performance, as well as family, social, and financial consequences were assessed. A dedicated and integrated approach to assessment and provision of care across the domains of hospital, education, and community is discussed.

Fourteen children aged 4 to 14 years with hip subluxation due to cerebral palsy (CP) were considered for a trial in a lying hip abduction system (Jenx Dreama, Jenx Limited, Sheffield, UK). Baseline data were recorded for 6 months, then assessments of the system were made for one year at 6 and 12 months. Assessments consisted of hip radiographs in the standard position, a parental questionnaire, and a sleep chart, which was completed by parents every Friday night during the trial. Three children could not enter the trial because of general sleep problems, and three could not complete it because they were unable to sleep with the system. One further child withdrew from the study just before the end because of unacceptable deterioration for which surgery was needed. The remaining seven children completed the trial and there was an overall improvement in rate of hip migration percentage on the right from 7% per annum in the baseline period to –4% with the system (p<0.05). On the left, changes were –3% and 0% respectively (ns). Average sleep at night changed from 9 to 9.4 hours (ns) and wakenings/night from 1 to 1.3 (ns). On the parental questionnaire, there were significant improvements noted with the system in position for seating and sleeping, ease of hip abduction for washing, and with pain reduction. This pilot study supports the use of this type of lying system but further studies are needed to establish the acceptability and efficacy of these systems, particularly in children aged 2 to 5 years when irreversible bony deformities of the hip tend to occur.

Twenty-seven MRI examinations from 17 children (7 females, 10 males) with bilateral lesions of the basal ganglia and thalamus, presenting over a period of 8 years, were reevaluated, and correlated with the type of cerebral palsy (CP) as well as motor and cognitive impairment. Children were between 1 year 6 months and 17 years old at last examination (mean 5 years 9 months). Brain damage had occurred as a consequence of birth asphyxia in nine patients and of neonatal shock in four patients. No adverse event could be identified in four children. In these, late prenatal compromise is assumed, as extensive screening (including MR spectroscopy in two patients) did not yield an underlying metabolic disorder. Three different degrees of MRI lesion patterns could be defined: a mild pattern (involvement of nucleus lentiformis and ventro-lateral thalamus only; n=7), an intermediate pattern (involvement of nucleus lentiformis, ventro-lateral thalamus, and pericentral region; n=3), and a severe pattern (involvement of nucleus lentiformis, entire thalamus, pericentral region, and hippocampus; n=7). This grading of MRI findings correlated significantly with the severity of both cognitive and motor impairment and type of CP. Normal cognitive development and mild motor delay was only seen with the mild pattern. All children developed CP: purely dyskinetic CP was only seen with the mild pattern, whereas the dyskinetic–spastic or spastic CP types could be seen in all three lesion patterns, with dyskinetic–spastic CP more related to the moderate, and purely spastic CP more related to the severe pattern.

This study examined the impact of severity and type of condition and family resources on quality of life in children with spina bifida and hydrocephalus. A national UK sample of children aged between 6 and 13 years with spina bifida (n=62), hydrocephalus (n=354), and spina bifida plus hydrocephalus (n=128) were identified via the register of the Association for Spina Bifida and Hydrocephalus (ASBAH). Parents completed standardized measures of Child Health Related Quality Of Life (CQOL), family needs survey (FNS), and caregiving self-efficacy scale (CSES) as well as questions on children's health and physical ability. Results showed there were no significant differences in the overall quality of life for the three disability conditions. The overall CQOL was over 1 SD lower for those with spina bifida and hydrocephalus than for children with other physical conditions. Sex and age were not related to overall CQOL. Specific aspects of CQOL differentiated the three groups. Children with spina bifida had poorer CQOL scores on self-care, continence, and mobility/activities whilst those with hydrocephalus had poorer scores on school activities, worries, sight, and communication. Severity of condition and family resources, i.e. CSES and FNS, predicted 32% of the variance in CQOL. Associations were also found between overall CQOL and problems discernible at birth as well as epilepsy. Other factors, including those related to shunts, were not significantly related to CQOL. It was concluded that hydrocephalus is just as great a threat to CQOL as spina bifida. Beyond the general effect of condition severity on CQOL, family resources (as measured by the CSES and FNS) represent an additional influence on CQOL.

The aims of this prospective study were (1) to examine whether quantitative and/or qualitative aspects of motor performance in 5- to 6-year-old children can predict attention-deficit–hyperactivity disorder (ADHD) 18 months later; (2) to investigate whether this relation is also present in oppositional defiant disorder and conduct disorder (ODD/CD). Quantitative and qualitative aspects of motor performance were tested in a selected community sample (n=401; 232 males, 169 females; mean age 6 years 4 months, SD 6 months, range 5 years 4 months to 7 years 11 months) using the Maastricht Motor Test. Eighteen months later, standardized psychiatric information was obtained with the Amsterdam Diagnostic Interview for Children and Adolescents: 35 children were classified as having ADHD, and 92 children as having ODD/CD. Weighted analyses were used in logistic regression analyses to investigate predictive values. Unlike quantitative aspects of motor performance, qualitative aspects were predictive of ADHD. Motor performance was not predictive of ODD/CD.

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.

A postal study was completed by 138 members of the Tuberous Sclerosis Association for individuals with severe learning disabilities from tuberous sclerosis complex (TSC) (78 males, median 20 years of age; 60 females median 19 years 6 months of age) to investigate the abilities and care needs of these adolescents and young adults. Results were compared with a Salford community survey of young people with severe learning disability (SLD) from a variety of causes (42 males, median 17 years; 29 females, median 17 years 8 months of age). Those with SLD associated with TSC had a higher level of verbal disability and were more dependent for managing toileting and bathing. The young people with TSC were less able to interact socially, showing autistic behaviour. Sexually, they were less aware and less active. Only 20 were thought by their parents to have received sex education.

This study aimed to explore the limitations of the Ashworth scale for measuring spasticity. An isokinetic dynamometer to quantify resistance to passive stretch and surface EMG was used to verify if a stretch response occurred and, if so, at what joint angle. The authors sought to determine which components of passive resistance (magnitude, rate of change, onset angle of stretch, or velocity dependence) were most related to Ashworth scores and which were related to motor function in cerebral palsy (CP). Twenty-two individuals with spastic CP (11 males, 11 females; mean age 11.9 years, SD 4.3) and a comparison group of nine children without CP (four males, five females; mean age 11.3 years, SD 2.5)participated in the study. The group with CP included those with a diagnosis of spastic diplegia, hemiplegia, or quadriplegia, distributed across Gross Motor Functional Classification Levels. Procedures included: (1) clinical assessment at the knee joint, (2) functional assessments, and (3) isokinetic assessment of passive resistance torque in hamstrings and quadriceps at three velocities. EMG data were recorded simultaneously to identify stretch responses. Detecting stretch responses using the Ashworth scale compared with instrumented measures showed near complete agreement at extremes of the scale, with marked inconsistencies in mid-range values. Ashworth scores were correlated with instrumented measures, particularly for the quadriceps, with higher correlations to the rate of change in resistance (stiffness) and onset angle of stretch than to peak resistance torque. Those with greater resistance tended to have poorer function with isokinetic relations typically stronger.

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.

The ability to move two fingers at the same time was measured in young and older adults. This study measured the accuracy with which 45 normally developing children (23 boys, 22 girls; mean ages 8.4 and 8.3 years respectively) and 49 young adults (25 males, 24 females; mean ages 19.8 and 20.5 years respectively) could synchronize movements of two fingers when making or breaking contact with circular metal discs. A portable electronic instrument displayed the timings. To measure ‘in-phase’ skills, attempts were made to contact both discs simultaneously with the two index fingers or to break both contacts; asynchrony was only a few milliseconds and differences between children and adults were insignificant. To measure ‘antiphase’ skills, attempts were made with the index and middle fingers to make contact simultaneously with one disc while breaking contact with the other; asynchrony was larger. Usually one contact was made and later the other was broken; for a while both fingers touched (overlap). Rarely one contact was broken before the other was made; for a while neither finger touched (gap). Boys' periods of overlap were longer than those of men and women; on both sides these differences were highly significant statistically (p<0.0001). Boys' errors on the right side were also significantly greater than those of girls. On both sides, mean errors of girls were higher than those of men and women: three of the four sets of data reached statistical significance. While boys' performance improved with age, that of girls was static. Children achieved an essentially adult level of control for in-phase skills but with antiphase skills the children, and especially the boys, had clearly poorer performances.

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

Seventy-five families of children with intractable epilepsy but without a severe learning disability (mean age 7 years 1 month, SD 2 years 6 months; range 2 to 12 years) who attended a regional paediatric neurology service, were surveyed. A postal questionnaire was used which included standardized measures of child and family adjustment; forty-eight families responded (64%; 31 males, 17 females). There was no significant difference between responders and non-responders in terms of age, sex, number of other chronic illnesses and disabilities, age at epilepsy diagnosis, seizure type, nor number of antiepileptic drugs currently prescribed (p>0.05). The importance of including multidimensional measures of outcome was highlighted by the finding that epilepsy, pharmacological, and psychosocial factors were differentially associated with specific adjustment difficulties. Two factors appeared to be most pervasively implicated across a range of adjustment problems: frequency of rectal diazepam administration and family patterns of relating to each other (p<0.05). It appeared that duration of seizures (as indicated by frequency of rectal diazepam administration), rather than the frequency of seizures per se, was more pernicious in terms of poor adjustment. Intrafamilial relations (degree of conflict/cohesion and so on) were not only associated with adjustment difficulties in the child, but also with the frequency of seizures themselves. Implications for psychological interventions in intractable epilepsy in childhood are highlighted.