‘But what are the prospects for the future, Doctor?’ This question is frequently asked by parents of children with learning disability. But longitudinal studies of the outcome in adulthood of childhood learning disability are lacking. At the same time, extrapolating prognoses from the available evidence is unreliable. Increasingly, however, clinicians are faced with this basic question that is on the minds of parents who have gleaned ‘information’ from other sources, notably the internet. So, what can be usefully and reliably claimed regarding outcome in adulthood for children with learning disabilities?

Congenital facial weakness involves various clinical manifestations, each of which raises specific problems. The incidence of congenital facial palsies ranges from 1.8 to 7.5‰ of births. Comparison of clinical and neurophysiological data enables aetiologies to be differentiated, pathogenesis to be evaluated, and the prognosis to be assessed.

Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. Patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above 90% overnight and an increase in forced vital capacity by as much as 100% (0.3 to 0.6 litres). This was matched by a symptomatic and functional improvement. Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described as a ‘side-sliding’ spine. This may be improved by spinal bracing or surgery.

We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children had visual impairment and 18 were known to have a positive seizure history before enrollment. Parents completed the Child Behavior Checklist, Scales of Independent Behavior – Revised, and a structured interview to assess obsessive–compulsive symptoms. Participants exhibited a broad range of behavioral and psychiatric problems, rated as occurring frequently and/or as severe in more than half of the sample. Males and females did not differ with regard to the number of behavioral and psychiatric problems. Children were also limited in their ability to perform activities of daily living, including self-care, hygiene, socialization, and other age-appropriate tasks. Results provide a quantitative baseline for behavioral and psychiatric problems and functional level in JNCL, against which further decline can be measured. Longitudinal assessment of behavioral and psychiatric symptoms and functional abilities is continuing and will provide much-needed data on the natural history of JNCL.

Lesch–Nyhan syndrome (LNS) is a rare disorder of metabolism caused by a defective gene on the X chromosome. It is typically characterized by choreoathetosis, hypertonia, hyperreflexia, and self-mutilation. The present study is a 4-year follow-up investigation of the cognitive status of six subjects with a mean age of 17 years 10 months (range 14 years 9 months to 23 years). The Stanford–Binet Intelligence Scale: IV was used. Each of the four domains assessed by this battery (verbal reasoning, abstract/visual reasoning, quantitative, and short-term memory) was compared with previous findings of the same subjects at their initial test and 2-year follow up; the aim being to gain further insight into the clinical course of LNS over time. The results suggest that while the subjects generally continued to acquire new information and skills over time, their standardized scores declined, indicating that a plateau was reached in their skill levels relative to their peers, as also seen in other developmental disabilities. Deficits were noted in working memory, particularly on tasks that involve considering multiple features simultaneously.

damage to the occipital lobe of the brain results in hemianopia when unilateral, and cerebral blindness when bilateral. however, in some cases a degree of visual function persists in the blind visual field. this aim of this study was to describe this phenomenon of ‘blindsight’ in a cohort of children with brain-damage and to relate the clinical features to their visual evoked potentials. we performed a retrospective analysis of 541 case records of children referred to a tertiary vision-assessment clinic in the royal hospital for sick children, glasgow, uk from 1992 to 2002. a total of 541 patients were analyzed (243 females, 298 males; age range 2mo to 19y 6mo, mean 6y 2mo). in 19 children with profound visual impairment and four children with hemianopia (12 females, 11 males; age range 1 to 18y, mean age 8y 3mo), evidence of perception of movement in the blind visual field was found and is described. flash visual evoked potentials varied from no response to normal and was not correlated with visual behaviour. recognition, detection, and use of this phenomenon in children is vital to their rehabilitation and interaction with their surroundings.

The purpose of this study was to determine whether the Gross Motor Function Measure (GMFM-88) is sensitive to within-child changes in function as a result of children who use an ambulatory aid or orthoses in comparison with unaided or barefoot function. Data from 257 children (140 males, 117 females) with cerebral palsy (CP) were analyzed from a 5-year longitudinal study. The children's age ranged from 2 to 15 years (mean 7y 4mo; SD 2y 11mo), and type of CP, included spastic (n=206 [80.2%]), dyskinetic (n=13 [5.1%]), ataxic (n=9 [3.5%]), hypotonic or mixed (n=27 [10.5%]), and those missing (n=2 [0.8%]), and in motor ability (Gross Motor Function Classification System [:GMFCS] levels I, n=40, II, n=34, III, n=93, IV, n=76, and V, n=14). Paired t-tests between barefoot and aided assessments showed significantly higher GMFM-88 total scores overall (n=257) for aided assessment and for three subgroups (ankle–foot orthoses only, ambulatory aid only, ankle–foot orthoses plus ambulatory aid), providing evidence that the GMFM-88 is sensitive to functional changes as a result of using an aid and/or orthoses. With regard to changes within the orthoses-only group, significant changes varied by GMFCS level. The GMFM-88 might provide a clinically useful tool to help in understanding the impact of ambulatory aids and orthoses on gross motor skills of children with CP.

Vitamin E (a-tocopherol) has antioxidant properties which prevent free radical damage to the nervous system, and there is a well-recognized association between vitamin-E deficiency and ataxia. This may result from such causes as malabsorption, the result of intestinal and liver disease, or severe malnutrition. There are also a number of hereditary conditions which can cause this deficiency. The classical abnormalities in fat-soluble vitamin-E deficiency progress from hyporeflexia, ataxia, limitation in upward gaze, and strabismus to long-tract defects, muscle weakness, visual field constriction, and centrocecal scotomata.

In 1997, Miura et al. isolated a novel homeobox gene in zebrafish and mice with striking homology to the Drosophila gene aristaless. They called this gene Arx (aristaless-related homeobox gene) and showed that it was highly conserved between zebrafish and mice and expressed in the developing central nervous system. The human orthologue of this gene, ARX, is located on the short arm of the X chromosome (Xp22.13). It consists of five exons and encodes a 562 amino acid protein that may be a nuclear transcriptional regulator. It is expressed in the fetal and adult brain, with much higher expression in the fetal brain. In the fetal brain the ARX gene is primarily expressed in neuronal precursors in the germinal matrix and ventricular zone at all stages of development but also in the subventricular zone, cortical plate, caudate nucleus, putamen, substantia nigra, cingulate, and hippocampus. It is also expressed in fetal testes and adult heart, skeletal muscle, and liver.

This study investigated the association between family relationships and compliance in the treatment of childhood epilepsy. It was a prospective study of 21 families with a child who had epilepsy attending Central Middlesex Hospital, London. There were 13 boys, eight girls, with a mean age of 12.0 years (SD 2.9) at initial assessment. Mothers were interviewed for assessment of expressed emotion as a measure of parent–child relationships. Assessment of the mothers' adjustment using the General Health Questionnaire (Goldberg 1978), and psychological adjustment of the children using the Rutter Scales (Rutter et al. 1970a), were completed by mothers and teachers. Reassessment was 3 to 4 years after initial contact, including paediatric case-note review to assess clinic attendance and overall treatment compliance. Significantly more of the group who had a good level of compliance had recovered from epilepsy at follow-up. Good treatment compliance was found to be associated with less maternal hostility and criticism. Children and mothers in the good compliance group had fewer psychiatric symptoms. Poor treatment compliance and the associated psychological disturbances suggest assertive paediatric and psychosocial intervention may be needed for some children with epilepsy.

Sixty-six participants (33 males, 33 females) with microcephaly (MC), age range from 2 to 19 years old, were evaluated. MC was classified pathogenetically into isolated MC (IMC) and multiple MC (MMC) and classified etiologically into primary MC (PMC) and secondary MC (SMC). Both IMC and MMC were further classified. Overall prevalence of epilepsy was 40.9%. Furthermore, there was a significantly higher prevalence of epilepsy in males. Main seizure type was generalized tonic-clonic seizures. Generally, learning disability (LD) was diagnosed in 93.9% and profound LD was evident in 43.9% of participants. There was an inverse correlation between severity of epilepsy and IQ but a positive correlation between severity of epilepsy and degree of LD. Differences in the success rate between monotherapy and polytherapy or response to antiepileptic drugs were not observed. Results suggest that epilepsy may be associated with the lower cognitive ability of the participants with microcephaly. The pathogenetic classification proposed is of value in delineating the prevalence of epilepsy and LD in the different varieties of MC as compared with the etiological classification.

adaptive behavior requires the integration of body movement and attention. therefore, individual differences in integration of movement and attention during infancy may have significance for development. we contacted families whose 8-year-old children (n=26; 16 females, 10 males; mean age 8y 2mo, sd 8mo) participated in a previous study of movement–attention coupling at 1 or 3 months of age, to assess parent-reported attention or hyperactivity problems using the child behavior checklist and diagnostic and statistical manual of mental disorders (4th edn) criteria. parent-reported attention problems at 8 years of age were associated with less suppression of body movement at onset of looking, and greater rebound of body movement following its initial suppression at 3 months, but not at 1 month. parent-reported hyperactivity was not related to any of the infant movement–attention measures. results suggests that the dynamic integration of movement and attention early in life may have functional significance for the development of attention problems in childhood.

Current and comprehensive information about the medical issues affecting children with Down syndrome (DS) is of value in counselling parents who are considering prenatal diagnosis and in planning services for people with DS as they age, especially given the continued improvements in their survival. Parents of school-aged children (mean age 11.37 years, 57.3% male, 42.7% female) with DS were identified by linking registers from the Disability Services Commission and the Birth Defects Registry. Less than half the children had cardiac and bowel conditions. More than half had ear conditions and more than three quarters had eye conditions. Ear, nose, and throat professionals were the specialists seen most often and the rate of tympanostomy tube insertion was nearly 17 times that of the general childhood population. Children with DS were over five times more likely to wear glasses than other children. These findings suggest that chronic, non life-threatening conditions impose a burden on families but do not threaten quality of life.

The Paediatric Pain Profile (PPP) is a 20-item behaviour rating scale designed to assess pain in children with severe neurological disability. We assessed the validity and reliability of the scale in 140 children (76 females, mean age 9 years 11 months, SD 4 years 7 months; range 1 to 18 years), unable to communicate through speech or augmentative communication. Parents used the PPP to rate retrospectively their child's behaviour when ‘at their best’ and when in pain. To assess interrater reliability, two raters concurrently observed and individually rated each child's behaviour. To assess construct validity and responsiveness of the scale, behaviour of 41 children was rated before and for four hours after administration of an ‘as required’ analgesic. Behaviour of 30 children was rated before surgery and for five days after. Children had significantly higher scores when reported to have pain than ‘at their best’ and scores increased in line with global evaluations of pain. Internal consistency ranged from 0.75 to 0.89 (Cronbach's alpha) and interrater reliability from 0.74 to 0.89 (intraclass correlation). Sensitivity (1.00) and specificity (0.91) were optimized at a cut-off of 14/60. PPP score was significantly greater before administration of the analgesic than after (paired-sample t-tests, p<0.001). Though there was no significant difference in mean pre- and postoperative scores, highest PPP score occurred in the first 24 hours after surgery in 14 (47%) children. Results suggest that the PPP is reliable and valid and has potential for use both clinically and in intervention research.

During the past decade, the promotion of physical fitness as a major benefit to health promotion and health maintenance has gained increasing momentum. Level of physical fitness has been shown to be inversely associated with heart disease, stroke, type 2 diabetes, high blood pressure, and colon cancer. Several studies also have noted that good-to-high levels of physical fitness (muscular strength and endurance and cardiorespiratory fitness) can offset the decline in function that occurs during the natural ageing process, and can assist people in maintaining their physical independence in later adulthood.

Ring chromosome 20 (r[20]) syndrome is characterized by mild to moderate learning disability, behavioural disorders, epilepsy, and various dysmorphic features. Although still considered rare, r(20) syndrome is being increasingly diagnosed. More than 30 cases have been described in the literature since 1976. Here we report an additional case of a 14-year-old male with r(20). He had moderate to severe learning disability and epileptic seizures manifesting at about 18 months of age. During the 13 years' follow-up period he showed intractable epileptic seizures, behavioural disorders, and mild dysmorphological features including microcephaly, strabismus, micrognathia, down-slanting eyelids, and ear abnormalities. Frequent episodes of atypical absence or non-convulsive status associated with electroencephalogram changes were seen in follow-up. He was treated with several classical and new antiepileptic drugs, including intravenous immunoglobulin, corticotropin, and vagal nerve stimulation, with unsuccessful control of seizures. Finally, surgical treatment (corpus callosotomy) was performed at the age of 13 years; severity of tonic seizures was diminished, but frequency was unchanged. Although his behavioural problems, e.g. hyperactivity, were mild in early childhood they became more severe when he was 11 years old. Aggressiveness, compulsiveness with self-injury, and panic attacks developed at the age of 13 years, and were more pronounced after callosotomy. This case report provides the first description of deterioration in psychological situation in patients with r(20) intractable epilepsy. The patient was diagnosed with r(20) syndrome after 13 years of clinical follow-up. Karyotype analysis should, therefore, be performed in every patient with intractable epilepsy of unknown aetiology.

We investigated the features of children with spinal cord insults (SCI) occurring in the pre-, peri-, and neonatal periods by sending 340 questionnaires to all paediatric neurologists, paediatric urologists, and neonatologists in the UK and Ireland. We requested information about timing, nature, and level of SCI in their patients; family and maternal history; pregnancy, delivery, and neonatal period; clinical presentation, imaging, laboratory studies, and outcome. Two-hundred and sixty-one questionnaires were returned with data on 58 patients with SCI. Seven out of the 58 children with SCI had pure dysraphic cord syndromes and were excluded. Fifty-one patients (33 males, 17 females, one unknown), born between 1972 and 1996, remained. Clinical presentations included severe respiratory failure ( N=20; five of whom died neonatally) and hypotonia or weakness recognized either during the neonatal period (N=12) or after 28 days (N=10). Data on clinical presentation were not given in nine cases. Lesions were cervical (N=22) and thoraco-lumbar (N=29). SCI was ascribed to ischaemia (N=12), trauma (N=4), and other associated underlying conditions (N=11), whilst the aetiology was unknown in 24 cases. Mean gestational age (36.2 weeks) and birthweight (2.6 kg) were lower than previously reported with the lowest figures associated with thoraco-lumbar and ischaemic lesions. More males were affected by lesions than females and the incidence of preterm delivery, multiple pregnancy, breech presentation, forceps delivery, and caesarean delivery were higher than average. Forceps delivery was associated with cervical lesions. Outcome data were given in 47 children, nine of whom died either neonatally or within the first 20 months of life. Motor disability ranged from a complete recovery in one out of 40 to paraparesis in 26 out of 40, and tetraparesis in 13 out of 40 patients: 17 out of 39 were ambulant. Sphincter dysfunction was present in 22 out of 38 patients and scoliosis in 16 out of 37. Learning difficulties were present in 10 out of 39, behavioural problems in five out of 39 and seizures in four out of 39 patients. SCI in the pre-, peri-, and neonatal periods are rare but probably under-diagnosed and are heterogeneous in aetiology, presentation, and outcome. Boys appear to be more susceptible than girls.

Between 1 and 4% of the populations of developed nations are diagnosed with learning disability. In Australia, an estimated 1.9% of the population exhibit learning disability either as a primary disability or as a secondary condition, and approximately half of these people require continuing support in daily living, including mobility, self-care, and socialization. After improvements in basic public health measures, life expectancy in most developed nations increased over the course of the 20th century, and this trend included people with learning disability. Thus, by the end of that century, the survival estimates for people with mild learning disability living in developed countries was 70 years, and nearly 60 years of age for those with severe learning disability.

We describe a quantitative and comparative review of a selection of European birthweight standards for gestational age for singletons, to enable appropriate choices to be made for clinical and research use. Differences between median values at term across standards in 10 regions and misclassification of ‘small for gestational age’ (SGA), were studied. Sex and parity differences, exclusion criteria, and methods of construction were considered. There was wide variation between countries in exclusion criteria, methods of calculating standards, and median birthweight at term. The lightest standards (e.g. France's medians are 255g lower than Norway's medians) were associated with fewer exclusion criteria. Up to 20% of the population used in the construction of the Scottish standard would be classified as SGA using the Norwegian standard. Substantial misclassification of SGA is possible. Assumptions about variation used in the construction of some standards were not justified. It is not possible to conclude that there are real differences in birthweight standards between European countries. Country-based standards control for some population features but add misclassification due to the differing ways in which standards are derived. Standards should be chosen to reflect clinical or research need. If standards stratified by sex or parity are not available, adjustments should be made. In multinational studies, comparisons should be made between results using both a common standard and country-based standards.