Good medical care is safe, effective, and timely, and requires adequate numbers of physicians with the ability, commitment, and circumstances to provide it. Although referrals to specialists clearly vary considerably among different countries and health care systems, there is current evidence that demand for pediatric specialty care in the US is likely to increase during the next two decades. This projected growth, however, is not expected to be uniform among the various subspecialties.

The heterogenity of disorders covered by the term cerebral palsy (CP) may severely hinder communication between families on the one hand and health professionals, such as physiotherapists, paediatricians, and occupational therapists on the other. Common ground for communication about the child with CP is crucial for aspects such as diagnosis, treatment, care, management, and research. In his later work, Ludwig Wittgenstein introduced the concept of ‘language games’ (Sprachspiele) to underline that our use of language is permanently governed by rules, but not always by the same rules. On a daily basis we are involved in a large number of ‘language games’, where confusion and misunderstanding usually arise when a statement in one ‘language game’ is interpreted according to the rules of another. Speaking the same language, i.e. being engaged in the same ‘language game’ was one of the primary goals in the development of the Gross Motor Function Classification System, the recent redefinition of CP, as well as the recent development of the Manual Ability Classification System (MACS; also see Morris et al. p 950). This commentary focusses on the communication aspect of the MACS.

The ketogenic diet has been in use since the early 1920s as a treatment for epilepsy. It is a high fat, low protein, and low carbohydrate diet which was developed to mimic the effects of fasting, which has been found to decrease seizure activity. The diet produces ketosis, as does fasting, but the role of ketosis in seizure control is not known. These days, the diet is generally used to treat seizures which do not respond to drug therapy.

The aim of this study was to determine the reliability of family and professional assessment of manual ability using the Manual Ability Classification System (MACS) for children with cerebral palsy (CP) in the UK. Families who were taking part in a study measuring the activities and participation of children with CP were invited to classify their child's manual ability using the MACS. Postal surveys were conducted with the families and health professionals nominated by the families. Perfect agreement was assessed as a percentage; chance-corrected agreement was measured using Cohen's kappa (κ), and reliability was determined using the intraclass correlation coefficient (ICC). Families of 91/128 (71%) children responded to the survey (53 males, 38 females; mean age 9y 11mo [SD 1y 11mo], range 6–12y) out of whom 88 indicated a single MACS level. Seventy-two children (82%) were classified with spastic CP, 12 (14%) with dyskinesia, two (2%) with ataxia, and two (2%) were not classified. There were 21, 27, 11, 10, and 19 children who were classified by their families in Gross Motor Function Classification System Levels I to V respectively; 14, 30, 18, 13, and 13 children classified by their families in MACS levels I to V. The survey of health professionals generated 60/71 (85%) responses from physiotherapists, 55/58 (93%) responses from paediatricians, and 21/24 (88%) responses from occupational therapists. There was perfect agreement between families and professionals for more than 50% of children; the indices of chance-corrected agreement ranged from κ=0.3 to 0.5, and the reliability coefficients ranged from ICC 0.7 to 0.9. Indices of agreement and reliability between families and professionals were equivalent to those between different professionals. The MACS, therefore, offers a valid and reliable method for communicating about the manual ability of children with CP. Families and professionals may not always agree precisely on a MACS level, particularly if children's performance of manual tasks varies in different environments.

The aim of this study was to use family-assessed instruments and details of children's impairments to explore factors affecting the activities and participation of children with cerebral palsy (CP). A postal survey was conducted with families of a geographically defined population of children with CP aged 6 to 12 years. Family-assessed indices of children's activities and participation were the Activities Scale for Kids (ASK) and Lifestyle Assessment Questionnaire (LAQ-CP). Families also assessed children's abilities using the Gross Motor Function and Manual Ability Classification Systems (GMFCS; MACS). Details of children's impairments were available from the 4Child epidemiological database and used with the GMFCS and MACS as explanatory variables in multiple regression analyses to identify their effect on children's activities and participation. Families of 175/314 (56%) children returned an assessment using the GMFCS and 129 (41%) children participated fully by returning all the questionnaires. Full participants (72 males, 57 females) did not differ from those who did not take part by their age, sex, CP characteristics, or associated impairments: GMFCS Level I–25, Level II–43, Level III–15, Level IV–14, Level V–23; MACS Level I–14, Level II–30, Level III–18, Level IV–13, Level V–13. Scores for the ASK and LAQ-CP Physical Independence and Mobility domains were predicted well by children's movement, manual, and intellectual disability, and also, to some extent, by the presence of seizures or speech problems. LAQ-CP domains for Economic and Clinical Burden and Social Integration were not well explained by children's abilities and impairments. Family assessment, therefore, offers a useful method for measuring children's activities and participation; however, currently available instruments do not fully represent all the domains in the International Classification of Functioning, Disability and Health. Children's abilities only partially explain their activities and participation.

Children with autism have a relatively shorter index finger (2D) compared with their ring finger (4D). It is often presumed that the 2D:4D ratio is associated with fetal testosterone levels and that high fetal testosterone levels could play a role in the aetiology of autism. It is unknown whether this effect is specific to autism. In this study, 2D:4D ratios of 144 males aged 6 to 14 years (mean age 9y 1mo [SD 1y 11mo]) with psychiatric disorders were compared with those of 96 males aged 6 to 13 years from the general population (mean age 9y 1mo [SD 1y 10mo]). Psychiatric disorders were divided into autism/Asperger syndrome (n=24), pervasive developmental disorder–not otherwise specified (PDD–NOS; n=26), attention-deficit–hyperactivity disorder (ADHD)/oppositional defiant disorder (ODD; n=68), and anxiety disorders (n=26). Males with autism/Asperger syndrome (p<0.05) and ADHD/ODD (p<0.05) had significantly lower (though not significantly; p=0.52) ratios than males with an anxiety disorder, and males with autism/Asperger syndrome had lower ratios than those in the comparison group. These results indicated that higher fetal testosterone levels may play a role, not only in the origin of autism, but also in the aetiology of PDD–NOS and of ADHD/ODD. Males with anxiety disorders might have been exposed to lower prenatal testosterone levels.

This study evaluated the effect of specific postural support on motor behaviour of infants with and without minor neurological dysfunction (MND). The following questions were addressed: (1) Does application of supportive pillows affect the time during which the infant exhibits general movements (GMs) or specific movements? We defined specific movements as movements of specific parts of the body that occur in a specific, recognizable way. (2) Does application of pillows improve the quality of GMs or the repertoire of specific movements? (3) Is a pillow effect affected by neurological condition? Forty healthy, term infants (16 males, 24 females; mean age 3.04m [SD 1.24mo], range 1–5mo) participated in the study. Twenty were neurologically normal and 20 had MND. Spontaneous motor behaviour in a supine position was video-recorded for 180 seconds in four conditions applied in random order: support by a pillow in (1) the shoulder region, (2) the pelvic region, (3) the shoulder and pelvic region, or (4) no pillow support. Two independent assessors evaluated the quality of GMs. The other movement parameters were assessed with a computer program. Duration of movements was determined and a variation index, consisting of the number of different specific movements in a condition, was calculated. The presence of pillows did not affect the time spent in GMs, specific movements, or GM quality in either group. In neurologically normal infants the shoulder pillow with or without pelvic pillow induced an increase in the variation index (p<0.01), whereas in the infants with MND, all pillow conditions resulted in a substantial increase of the movement repertoire (p<0.001). Our results demonstrate that specific postural support promotes variation in motor behaviour of young infants. This is particularly true for infants with MND.

Cognitive deficits are the most common complication in children with neurofibromatosis type 1 (NF1), and academic achievement is broadly affected. There is a lack of consensus in the literature regarding the frequency of general and specific learning disabilities, which seems to be related to the lack of a consensus on diagnostic criteria. The present study examined the frequency of specific learning disabilities (SLDs) in NF1, using an intellect–achievement discrepancy for diagnosis, as well as general learning difficulty associated with a lowering of general intellectual ability. The cohort consisted of 81 children with NF1 (43 males, 38 females; mean age 11y 6mo [SD 2y 4mo]; range 8y–16y 9mo) and 49 comparison children (20 males, 29 females; mean age 12y [SD 2y 6mo]; range 8y 2mo–16y 8mo). Problems with academic achievement were present in 52% of children with NF1; however, only 20% of the children with NF1 were diagnosed with an SLD (32% had more general learning problems). Only males with NF1 were at significant risk for SLD, and Verbal IQ<Performance IQ discrepancies were predictive of the presence of an SLD. There was a significant comorbidity of literacy-based learning disabilities and attention-deficit–hyperactivity disorder. We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation.

Long-term outcomes of the ketogenic diet in the treatment of epilepsy have not previously been reported. A retrospective chart review of children treated with the ketogenic diet for more than 6 years at the Johns Hopkins Hospital was performed. The response was documented at clinic visits and by telephone contacts; laboratory studies were obtained approximately every 6 to 12 months. Satisfaction and tolerability were assessed by means of a brief parental telephone questionnaire. In all, 28 patients (15 males, 13 females), currently aged 7 to 23 years, were identified. The median baseline seizure frequency per week at diet onset was 630 (range 1–1400). Diet duration ranged from 6 to 12 years; 19 remain on the diet currently. After 6 years or more, 24 children experienced a more than 90% decrease in seizures, and 22 parents reported satisfaction with the diet's efficacy. Ten children were at less than the 10th centile for height at diet initiation; this number increased to 23 at the most recent follow-up (p=0.001). Kidney stones occurred in seven children and skeletal fractures in six. After 6 years or more the mean cholesterol level was 201mg/dl, high-density lipoprotein was 54mg/dl, low-density lipoprotein was 129mg/dl, and triglycerides were 97mg/dl. Efficacy and overall tolerability for children are maintained after prolonged use of the ketogenic diet. However, side effects, such as slowed growth, kidney stones, and fractures, should be monitored closely.

Palatal tremor (PT) is a rhythmic movement of the soft palate that often causes an ear click. PT can be symptomatic (SPT) or essential (EPT). The symptomatic form usually occurs in adults and the essential form mainly occurs in children. Several different treatments for EPT in children appear in the literature with variable reported efficacy. This report details four paediatric patients with EPT (three males, one female; mean age 6y 4mo [SD 6mo]; age at onset 6–7y) treated with piracetam (2-oxo-1-pyrrolidine acetamide). Piracetam was used to treat EPT because of its antimyoclonic properties. All children showed a good response to doses of 100 to 300mg/kg/day. EPT relapsed on withdrawal of piracetam and remitted on reintroduction. Piracetam's effect on EPT was sustained. It is concluded that piracetam is an effective drug for the treatment of EPT in children.

Diagnosing ischaemic stroke and determining its cause is difficult in children. Both are important for selection of treatment and prediction of outcome. This study explored the diagnostic changes that lead to a delay in the correct diagnosis of paediatric stroke. Case histories of 45 children with ischaemic stroke (31 males, 14 females; median age 6y; age range 2mo–16y) were retrospectively reviewed. The initial clinical diagnosis, based on the interpretation of presenting symptoms, was compared with the final aetiological stroke diagnosis after completion and review of diagnostic work-up. The type of diagnostic change, consequent time delay until correct diagnosis, reasons for change of diagnosis, and alterations to management were evaluated. Twenty-four diagnostic changes were identified; 19 in ‘primary stroke diagnosis’ (symptoms initially not attributed to stroke), and five in ‘aetiological diagnosis’ (incorrect initial determination of type or cause of stroke). The median interval between initial and final diagnosis was 7 days (3h–2y). The change in diagnosis led to therapeutic alterations in 17 patients. Risk factors for childhood stroke differ from those in adults. Stroke is frequently not recognized as the cause of the child's symptoms, and the correct determination of stroke aetiology takes time. We recommend that children with stroke be evaluated in a centre with expertize, using standardized diagnostic protocols and careful follow-up.

The chickenpox virus (varicella zoster virus; VZV) is known to cause large and small vessel central nervous system vasculopathies that may be associated with strokes in both adults and children. We present the case of a female aged 2 years 6 months who developed a chronic progressive small-vessel vasculopathy with radiological features of moyamoya disease as a manifestation of congenital varicella syndrome. Clinically, the condition was characterized by recurrent ischaemic strokes, which were brought under control using intravenous acyclovir. The case is unique in that it is the first report of congenital varicella syndrome to occur after a maternal herpes zoster infection. Furthermore, it is the first case of symptomatic VZV infection in a child to occur after a maternal infection occurring in the third trimester of pregnancy.

Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbosacral lipomas, a rare developmental anomaly usually associated with spina bifida. A lesion of the cauda equina composed of numerous mature Pacinian corpuscles and nerve fascicles embedded in adipose tissue in association with spina bifida occulta is described in a 5-month-old male with a sacral red papula. Magnetic resonance imaging (MRI) revealed a cord-like mass in the region of the cauda equina, presumably connected to the subcutis. With the exception of a low lying, tethered spinal cord, there was no neurological deficit and the range of motor development was normal. In March 2005, at 17 months, surgery was carried out. A cord of yellow tissue was found running from the subcutis through the bone defect into the lumbosacral spinal canal. Intradurally, it ran parallel to the cauda equina, terminating at the conus medullaris. Fifteen months after the surgery the development of the child was normal. Only two similar cases have been reported so far. Due to their occurrence in the sacrococcygeal region and association with developmental anomalies, they have been regarded as malformations and the term Pacinioma has been suggested. Our case with clusters of Pacinian corpuscles may represent a rare variant of complex intraspinal lumbosacral lipomas, closely related to Paciniomas reported by Bale.

Chronic daily headache is a condition that affects 2 to 4% of adolescent females and 0.8 to 2% of adolescent males. It is manifested by severe intermittent headaches, as well as a chronic baseline headache. Chronic daily headache is diagnosed when headaches occur for greater than or equal to 15 headache days per month, over a period of 3 consecutive months, and with no underlying pathology. The headaches last for more than 4 hours a day. Patients with chronic daily headache will frequently have sleep disturbance, pain at other sites, dizziness, worsening anxiety and mood, and school absence. Successful approaches to treatment include education, use of preventative medication, avoidance of analgesics, and helping the children work their way back into a functional daily routine.

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.

‘Healing’Papa would tell me,‘is not a sciencebut the intuitive Artof wooing Nature.’

The Art of Healing (In Memoriam David Protech, M.D.) W H Auden

My friendly German elective student, explaining the nuances of Gemütlichkeit, suggested ‘atmosphere’ in response to my suggestion of ‘aura’ or ‘charm’. ‘Think of steamers on the Rhine and castles and beer and sausages and oompah pah bands,’ he said helpfully. It is also clear that the geniality, the homey comfortableness, can be contrived and false as well as genuine and engaging. No part of the student course addresses ‘How to be a Doctor’ because it is an impossibly pompous thing to talk about. You could hardly be addressed by someone who doesn't believe they have the answer; and that sounds smug. But, then, by a process of self-selection, many doctors avoid significant contact with people. Maybe they recognize that that part of medicine is less attractive to them, perhaps because they also recognize these interpersonal issues. However, the front-line troops of medicine do need to be able to cope with, communicate with, and understand people, and empathize, sympathize, counsel, and console. I worry about how well we teach that.