Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG, electro-oculographic recordings, MRI of the brain, and genetic and metabolic investigations. EEG findings were consistent with idiopathic generalized epilepsy. Electro-oculographic recordings of the saccades confirmed an inability to elicit horizontal saccades without preceding head movement; saccades to the left were better than saccades to the right. MR scans for one twin showed normal findings, however, for the twin who had meningitis they revealed asymmetry between the right and left temporal lobes but no specific abnormality. DNA analysis using a series of autosomal polymorphic markers confirmed the monozygocity of the twins. White blood cell enzyme analysis excluded Sandhoff disease, Tay–Sachs disease, GM1 gangliosidosis, metacromatic leucodystrophy, Gaucher disease, Niemann-Pick disease (A and B), and Krabbe leucodystrophy. Albumin and immunoglobulin (IgA, IgG, and IgM) levels were normal. It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia.

Transient neurological deficits experienced by patients with Sturge–Weber syndrome can be caused by epilepsy, or may result from temporary ischaemia of the cortex underlying the vascular malformation. To show the difficulty in distinguishing seizures from ischaemic symptoms, two male children with episodes of acute unilateral weakness are presented here as well as a review of the literature. The first child presented at 2 years of age with a sudden increase in his pre-existing right hemiparesis accompanied by screaming. Ictal epileptiform activity was recorded at the moment of the attack, and subsequent seizures were controlled by adjustment of antiepileptic drug treatment. The second child presented at 4 years of age with attacks of vomiting and a coinciding increase in the pre-existing paresis of the left leg. Electroencephalogram (EEG) recording did not show ictal epileptiform activity. The origin was presumed to be vascular. Treatment with aspirin led to control of these transient ischaemic attacks. Ictal EEG is needed to differentiate between an epileptic and an ischaemic origin of transient focal deficit. Treatment with aspirin should be considered if an ischaemic origin cannot be excluded.

Children with cerebral palsy (CP) often have poor linear growth during childhood, resulting in a diminished final adult height. Here we report a female with CP and short stature but without growth hormone (GH) deficiency who exhibited increased growth during treatment with GH. We also report two other children with CP who were treated with GH: one female with a history of leukemia, and a male with Klinefelter syndrome. These two children were both found to be GH-deficient by insulin provocative GH testing and responded to treatment with increased growth rate. Growth improved to a greater extent in the two children with apparent GH deficiency. In summary, it is felt that GH therapy might be beneficial for children with CP and warrants further investigation.

Botulinum toxin has rapidly gained wide acceptance as a treatment for focal spasticity, and is becoming more readily available. Early studies established its effectiveness, but many issues are still open for discussion. After a brief review of the historical and scientific development of botulinum toxin as a clinical tool and an outline of previous work in the field, some important questions are discussed in the light of more recent trials.

Partial trisomy of the long arm of chromosome 9 represents a very rare and heterogeneous group of chromosomal aberrations. Associated clinical features include learning disability and pyloric stenosis. We present the first patient to be reported with a duplication of the chromosome region 9q22.1→q33. The patient (female, age 17 years) presented with growth retardation, microcephaly, facial dysmorphia, oesophageal atresia, aortic stenosis, ventricular septal defect, atrial septal defect II, hypothyroidism, and learning disability, but no pyloric stenosis. A review of all cases of partial trisomy 9q reported in the literature demonstrates that learning disability is a characteristic feature of this group of chromosomal aberrations. However, there are cases of duplications of the same chromosome 9 material, with and without pyloric stenosis. This study provides new information for future genetic counselling, especially in cases of prenatal diagnosis of partial trisomy 9q.

Orthotics and physical therapy are offered to children with myelomeningocele, often without objective evidence of efficacy. Bracing of the lower limbs in children with myelomeningocele can be categorized into three groups based on the degree and extent of muscle weakness. Children with lesions at the thoracic and upper-lumbar level lack strength in hip extensors, hip abductors, knee flexors, knee extensors, ankle plantarflexors, and ankle dorsiflexors. They require the support of an orthosis such as a parapodium (standing frame), parawalker, reciprocating gait orthosis, or hip-knee-ankle-foot orthosis. Children with a low-lumbar level of paralysis lack strength in hip extensors, ankle plantarflexors, and ankle dorsiflexors and may need a solid ankle–foot orthosis to stabilize the ankle and assist knee extension in the stance phase of gait. Children with lesions at the sacral level either need no bracing or may need a foot orthosis to compensate for weak intrinsic foot muscles.

A preliminary cross-sectional study of 72 Hong Kong Chinese infants suggested that these infants learn to roll from supine-to-prone before rolling from prone-to-supine i.e. the opposite to teaching in most western texts. Three-hundred and sixty mothers were recruited postpartum and asked to record, on a chart, information related to the developmental milestone of rolling over for their infants (49% male) during the next 9 months. Telephone reminders were given at 4 and 8 months and, by the end of the study, information had been obtained from 240 mothers (67% of original sample, 51% male infants). Mean ages of rolling over were 5.1 months (SD1.5) for supine-to-prone and 5.7 months (SD1.3) for prone-to-supine. Age of rolling over from supine-to-prone was not influenced by usual sleep position, infant's sex, mother's intention to breastfeed infant, number of siblings, marital status, main daytime caregiver, or feeding method over 9 months. Hong Kong Chinese infants roll from supine-to-prone before they roll from prone-to-supine.

Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1α subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.

The Gross Motor Function Classification System (GMFCS) was developed in response to the need to have a standardized system to measure the ‘severity of movement disability’ in children with cerebral palsy (CP). The Surveillance of Cerebral Palsy in Europe classification ably describes the primary neurological impairment, subtypes, and topography of body involvement but currently includes non-standardized estimations of the degree of functional limitation. The reliability of other classification systems that measure functional ability such as ‘mild’, ‘moderate’ and ‘severe’, or ‘restricted walking’, ‘walking with aids’ or ‘non-walking’, or ‘household and community ambulator’ have not, to our knowledge, been evaluated. Palisano and colleagues used the underlying construct of self-initiated functional abilities in sitting and walking and the need for assistive devices, such as walkers or wheelchairs, to develop a new system, and set out to test its validity and reliability. The GMFCS now provides a method of describing the functional ability of children with CP in one of five levels. Children in Level I can perform all the activities of their age-matched peers, albeit with some difficulty with speed, balance, and coordination; children in Level V have difficulty controlling their head and trunk posture in most positions and in achieving any voluntary control of movement. Over the past few years the developers of the GMFCS have provided further evidence of the measurement properties of the system and it is being widely used. Here we systematically review publications that have cited the GMFCS, to describe the state of our knowledge about its properties and to describe its impact in the fields of research, clinical practice, and education to enhance our understanding of children with CP.