One privilege of working in the health service today is the enormous range of effective therapies available to us. Advances in surgical techniques, tools, and materials have been more than matched by the vast number of pharmaceutical products addressing an ever wider range of conditions. Even for conditions where treatments have been available for many years, newer agents may be more potent, have less adverse or unwanted effects, and be easier to take than their predecessors. This is a huge contribution by the pharmaceutical industry.

Literacy is a powerful tool for communication, with particular potential for users of augmentative and alternative communication (AAC). This is dramatically illustrated by John Carey's comment in his preface to Christopher Nolan's book Under the Eye of the Clock. He describes the author's experience of release when he surmounted his severe motor and speech impairments to express the written words, ‘He played rapturously with them, making them riot and lark about, echoing, alliterating, and falling over one another.’ However, unfortunately even in the presence of normal intellect, this acquisition of literacy for childhood AAC users proves elusive. The paper by Sandberg in this month's issue is, therefore, a welcome contribution to the small body of literature that addresses this important area.

Development of literacy skills was studied in six children (one male, five females) with severe speech impairments and cerebral palsy (CP). These skills were related to intellectual development, phonological abilities, and short-term memory. Three of the children were diagnosed with dystonia, and three with diplegia. They had no, or severely restricted, independent mobility (Gross Motor Function Classification System Level IV for four children and Level V for two), and severe fine motor problems, including difficulty with pointing. As they had no intelligible speech, the Bliss system was the primary communication mode. Assessments were made at approximately 6, 9, and 12 years of age. The results revealed that the children had difficulties acquiring literacy skills, although intellectual level and phonological ability predicted otherwise. Positive development during the first 3 years was followed by an arrest. A conspicuous decrease in IQ points was also found. Thus, phonological ability does not seem to have the same predictive power for literacy development in children with severe speech impairments and CP as in typically developing children. Further studies are needed to clarify the role of phonological abilities, working memory, and strategies used in literacy acquisition in these children. Such studies might also clarify the importance of articulatory abilities in early literacy acquisition.

Constraint-induced (CI) movement therapy is a promising therapy for improving upper limb function in adults after stroke. It involves restraint of the non-involved limb and extensive movement practice with the involved limb. In this study, a single-blinded, randomized, control study was performed to examine the efficacy of CI therapy, modified to be child friendly, in children with hemiplegic cerebral palsy (CP). Twenty-two children (8 females, 14 males; mean age 6y 8mo [SD 1y 4mo]; range 4–8y) were randomized to either an intervention group (n=11) or a delayed treatment control group (n=11). Children wore a sling on their non-involved upper limb for 6 hours per day for 10 out of 12 consecutive days and were engaged in play and functional activities. Children in the treatment group demonstrated improved movement efficiency and dexterity of the involved upper extremity, which were sustained through the 6-month evaluation period, as measured by the Jebsen–Taylor Test of Hand Function and fine motor-subtests of the Bruininks–Oseretsky Test of Motor Proficiency (p<0.05 in both cases). Initial severity of hand impairment and testing compliance were strong predictors of improvement. Caregivers reported significant increases in involved limb frequency of use and quality of movement. However, there was no change in strength, sensibility, or muscle tone (p>0.05 in all cases). Results suggest that for a carefully selected subgroup of children with hemiplegic CP, CI therapy modified to be child-friendly, appears to be efficacious in improving movement efficiency of the involved upper extremity.

Social integration and independence is the ultimate goal of habilitation and social support for patients with cerebral palsy (CP). Having a partner and having children provide support for social integration of adults with or without a disability. We studied 416 participants with CP born between 1965 and 1970 (243 males, 173 females; mean age 32y 2mo [SD 2y]; age range 29–35y) and compared them with 2247 age-matched comparison individuals. Diagnostic subtypes of the 416 participants were: 31% hemiplegia, 49% diplegia, 11% tetraplegia, and 9% other types. The level of motor impairment, estimated in childhood, with regard to walking ability was 65% able to walk without assistance, 22% with assistance, and 12% not able to walk (for 1% of the participants their walking ability was not known). We found no sign of increased social integration over the past two or three decades in Denmark. Sixty-eight per cent lived independently, 13% lived with their parents, and 16% lived at an accommodation facility arranged by the county (institution). Twenty-eight per cent of the participants were cohabiting and 19% had children. The presence of epilepsy and the severity of physical or cognitive impairment as assessed in childhood predicted independent living and physical and cognitive impairment predicted cohabitation, but parents' socioeconomic position and region of living did not. Fifty-five percent of the participants, compared with 4% of the comparison group, had no competitive employment, cohabiting partner, or biological children. The remaining participants had at least one of these types of social contact, but this more optimally socially integrated half of the participants only combined all three types of social contact half as often as the comparison group. This could be due to cognitive difficulties or premature ageing.

This study aimed to investigate the prevalence of sleep problems in Chinese children with pervasive developmental disorders (PDD) in Hong Kong and their relationship to parental stress. A cross-sectional survey was conducted in six child assessment centres. All parents of the children with PDD completed the Children's Sleep Habits Questionnaire, the Parenting Stress Index – Short Form, and questions on sleep practice. A total of 210 out of 250 questionnaires (response rate 84%) were returned. Mean age of the children was 3 years 6 months (SD 1y 4mo; range 2y–7y 7mo; 168 males, 25 females). The prevalence of parent-defined sleep problems in various sleep domains ranged from 9.3 to 45.6%, with 67.9% of children having significant problems in at least one sleep domain. The most common problems reported were bedtime resistance and parasomnias. Similar sleep problems occurred in all the PDD subgroups. The factor most significantly associated with sleep problems was the occurrence of sleep problems before the age of 2 years. The parents of children with PDD with sleep problems experienced a higher level of stress than those whose children had no sleep problems. A high prevalence of significant sleep problems was reported in Chinese children in Hong Kong with PDD. A higher stress level among the parents of those children with PDD with sleep problems suggests the need for systematic early detection and management of sleep problems in children with PDD.

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.

Saccadic eye movements are essential for redirecting the fovea at different visual targets. In adults and children saccades are remarkably stereotyped. Peak velocity and duration of saccades are a simple function of saccade amplitude called the ‘main sequence’. Saccades that are substantially slower than normal often reflect disease of the brain stem saccade generator but may also be associated with diseases of higher level structures including the cerebral hemispheres and superior colliculus. However, little is known about the speed of saccades in infancy. A single previous study reported that infant saccades may be similar to or slower than those of adults, but few saccades were recorded. The present study re-examined this issue with the technique of measuring optokinetic (OKN) quick phases, which are readily elicited from healthy and sick infants, with a view to using saccade speed as a quantitative neurological measure. We measured the duration and peak velocity of saccades (main sequence) using direct-current electro-oculography from OKN quick phases in 18 infants (nine males, nine females) aged 2 to 18 months (mean age 8mo [SD 4]) and seven adult comparison participants (four males, three females; age range 21–32y, mean age 27y [SD 3]). All infant saccades showed typical relationships between duration, peak velocity, and amplitude. Overall, there was no statistically significant difference between adult and infant main sequences for duration or peak velocity. However, the differences in the main sequence for duration almost reached significance (p=0.051) for infant saccades being faster than adults. Individual differences were also present, and some infants produced saccades faster than adults, but not slower. There was no significant age trend. We conclude that measuring saccade speed is practicable in the young infant. From the age of at least 2 months, infants generate saccades with speeds similar to or slightly higher than those of adults.

Reliability and validity of the Developmental Coordination Disorder Questionnaire (DCD-Q) was assessed using a population-based sample of 608 children (311 males, 297 females; mean age 7y 8mo [SD 2y 4mo]), a sample of 55 children with DCD referred to a rehabilitation clinic, and a control sample of 55 children matched for age and sex (48 males, seven females in each sample; mean age 8y 3mo [SD 2y]). The DCD-Q is reliable and valid in the age range for which the questionnaire was developed(8y–14y 7mo) and in a younger age range (4–8y). Sensitivity and specificity of the DCD-Q was assessed using the Movement Assessment Battery for Children as the criterion standard. The DCD-Q met the standard for sensitivity (80%) in the clinic-referred sample (81.6%), but not in the population-based sample (28.9%). Specificity almost reached the standard of 90%: 89% in the population-based sample and 84% in the clinic-referred sample.

According to previous case reports, some congenital abnormalities (CAs) of the brain, such as microcephaly, are a result of intrauterine herpes simplex virus infection. A population-based case–control study was conducted to determine the risk of neural tube defects (NTDs) after maternal herpes labialis infection during pregnancy. Data were taken from the Hungarian Case–Control Surveillance of Congenital Abnormalities from 1980 to 1996, which included 1202 children with NTDs and 21641 comparison children with CAs other than NTDs. The adjusted relative risks (odds ratio [OR]) for NTDs associated with maternal herpes labialis in the first trimester of pregnancy was OR 1.19 (95% confidence interval [CI] 0.68–2.06), and in the entire pregnancy was OR 0.94 (95% CI 0.61–1.44). Self-reported maternal herpes labialis during pregnancy was not associated with a substantially increased risk of NTDs in infants.

Following the introduction of combination antiretroviral therapy, children vertically infected with the human immunodeficiency virus (HIV-1) living in the developed world are surviving into adult life. This paper reviews the neurodevelopmental outcomes of 62 consecutively-presenting children with HIV-1 infection diagnosed before 3 years of age (32 males, 30 females; median age at presentation 6mo). Neurological and developmental data are presented with immunological and virological responses to antiretroviral therapy. Fourteen children (22%) had abnormal neurological signs and 25 (40%) demonstrated significant developmental delay on standardized developmental assessments. Children presenting with more severe HIV-1 disease and immune compromise had significantly more abnormal neurological signs and developmental delays than children presenting with milder HIV-1 symptomatology. Immune function, control of HIV-1 viral replication, and growth parameters improved with antiretroviral therapy (median age at last follow-up 7y 3mo); however, abnormal neurological signs and significant gross motor difficulties persisted.

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.

We report the case of a male aged 2 years 6 months with left temporal lobe epilepsy who presented with ictal bradycardia syndrome leading to asystole. The clinical presentation was remarkable for the occurrence of clustering syncope. A seizure was recorded on a video electroencephalogram– electrocardiogram and analyzed. A cardiac pacemaker was implanted and antiepileptic drug treatment was initiated. We suggest that clustering of syncope is an important feature in the presentation of epilepsy in a young child.

A 9-year-old male with a diagnosis of fragile X syndrome (FXS) was evaluated for cyanotic episodes of unknown etiology. Clinical observation revealed frequent episodes of hyperventilation lasting several minutes, only while the patient was awake. This was followed by apnea associated with cyanosis and oxygen desaturation. Polysomnogram confirmed episodic central apnea temporally associated with hypocapnia, only during the awake state. Extensive evaluation failed to reveal other neurological, cardiac, gastrointestinal, or pulmonary etiologies for the events. The clinical observations and investigations allowed us to conclude that the patient's cyanotic episodes were caused by primary behavioral hyperventilation in the awake state. Similar behaviors have been reported in children with a variety of diagnoses but to our knowledge have not been previously reported in children with FXS. Treatment for this unusual behavior in FXS consists of reassurance and behavior modification to decrease the frequency and severity of the cyanotic episodes.

Clinical, histopathological, and laboratory evidence suggest that dancing eye syndrome/opsoclonus-mycoclonus syndrome is an immune-mediated and probably autoimmune disorder. There is a clear, but not invariable, association with neuroblastoma or ganglioneuroma in children, and with a miscellany of neoplasms in adults. Direct support, i.e. the identification of antibodies against cell-surface antigens in neurons, is lacking but the nature of other evidence is such that the case for use of immunomodulatory therapeutic strategies is compelling. Because at least 85% of children affected by the condition are left with permanent cognitive deficits, notwithstanding a favourable initial neurological response to, say, steroid or adrenocorticotrophic hormone, therapeutic stakes are high. There is an urgent need for controlled therapeutic trials which, because of the comparative rarity of the condition in children, will require international collaboration to expedite studies.

A significant proportion of children who sustain traumatic brain injury will go on to experience disturbance in their academic, emotional, and social functioning. There is a role for medication in the treatment of these late onset changes. This review will focus on the recognition and pharmacological treatment of the most common and most problematic presentations that may follow head injury, and supports the use of stimulant medication for secondary attention-deficit–hyperactivity disorder despite the small evidence base for use in children.