Terminology means ‘a set of words used in a specially understood or defined sense’. From the standpoint of an international journal welcoming English language material from all over the world, it is apparent that widespread differences in meaning and uses of terminology exist in the field of developmental medicine. Differences in terminology matter, as Bax and Mac Keith commented, ‘First, foremost, surely, is how careful we must be in our language. If words are used... (that) confuse us they may in fact harm the patient’.

Six boys and five girls with a mean age of 8.6 (range 3 to 13) years with foetal alcohol syndrome (FAS) were studied by MRI and single photon emission computed tomography (SPECT) to find specific areas of vulnerability. Morphological anomalies shown in six of 11 patients by MRI were situated both cortically and subcortically: cortical atrophy (N=2), dilated ventricle (N=1), corpus callosum hypoplasia (N=1), cerebellar atrophy (N=2), one of the latter with Arnold–Chiari malformation (N=1). Delayed myelination of the white matter was seen in two patients. Volumetric studies of the hippocampus showed morphological left–right asymmetry in five of eight patients. However, SPECT showed mild hypoperfusion of the left hemisphere in all 10 subjects. The negative left–right index was located especially in the left parietooccipital region, i.e. in the brain areas implicated in arithmetical and logical–grammatical functions, which are known to be affected in FAS. Normal left–right dominance was also lacking in the frontal area, i.e. the brain area affected in attention-deficit–hyperactivity disorder (ADHD). Detection of these abnormalities, although they are not unique to FAS, may be helpful in the diagnosis and any attempts at rehabilitation. Diverse morphological and functional abnormalities are more frequent than has usually been believed even in less impaired children with FAS.

Between 1989 and 1994, 18 children with cryptogenic infantile spasms – defined by normal development before onset of spasms, symmetrical hypsarrhythmia or multifocal spikes, and typical spasms on presentation, and no abnormal findings on aetiological studies including neuroradiology – were diagnosed and treated. To assess the risk of cognitive impairment later in life, 15 of these 18 children whose spasms completely resolved within the first year of life were studied. Age at onset of spasms varied between 4.4 and 9.8 months (mean 6.5 months). Children were effectively treated with adrenocorticotrophic hormone (10 children), pyridoxine (three), vigabatrin (one), or sodium valproate (one). Spasms lasted between 11 and 138 days (mean 50 days) and stopped between the age of 6.3 and 10.2 months (mean 8.1 months). EEGs normalized between the age of 7.1 and 13.2 months (mean 9.4 months). Early development was assessed on presentation and within a few months after spasms had stopped. A detailed neuropsychological assessment was performed between the age of 4.0 and 5.9 years. Twelve children had normal intelligence; specific cognitive deficits were found in five. Three children had mild learning disability. Abnormal developmental status at age 8 to 15 months after complete resolution of spasms and EEG abnormalities was associated with cognitive deficits at age 4 to 6 years.

Independent mobility in early childhood has been associated with the development of various cognitive and psychosocial skills. However, children with physical disabilities are not always able to move independently and may be at risk for delays in these areas. Early provision of powered mobility can offer young children an opportunity for independent mobility. Despite this, there is little information to help determine when a young child has the cognitive skills necessary to operate a powered wheelchair safely. This current research aims to identify these skills. A cognitive assessment battery and a wheelchair mobility training and assessment program were developed. Twenty-six children with physical disabilities between the ages of 20 and 36 months were evaluated on the cognitive assessment and participated in the wheelchair training and assessment program. A stepwise regression analysis was used to determine which of the cognitive skills predicted wheelchair mobility performance. The cognitive domains of spatial relations and problem solving were found to be significant and accounted for 57% of the variance in wheelchair skills. Developmental cut-off points on these scales as they relate to wheelchair skills are presented and clinical applications are discussed.

This study aimed to identify the sexual and reproductive health knowledge, attitudes, and behaviour of young people, aged between 14 and 23 years, with spina bifida who had attended the Spina Bifida Clinic at a tertiary centre in Melbourne, Australia within the past 10 years. Subjects participated in a structured interview and their parents completed a written questionnaire. Fifty-one (55%) of 93 eligible young people and 69 of 97 parents (71%) participated. Most young people were satisfied with the amount of general sex education they had received. However, 95% stated they had inadequate knowledge about sexual and reproductive health relating to spina bifida and 59% of parents considered they had inadequate knowledge. Thirty-nine percent of young people and 30% of parents had discussed sexuality issues with a doctor. However, 93% of young people and 100% of parents said that they would definitely talk about these issues if the discussions were initiated by their doctor. A significant degree of sexual intimacy was reported, with 60% reporting an intimate relationship, and 25% (10 females, three males) reporting sexual intercourse. Thirty-seven percent of females had experienced unwanted sexual attention, and 30% reported unwanted sexual touching. This study suggests that health professionals should pay greater attention to sexual and reproductive health issues in young people with spina bifida.

The repeatability of energy-expenditure measurements were studied in five children and four adults without disabilities using the Cosmed K4 (high technology). The ability to detect change in measurements was compared between this instrument and the Physiological Cost Index (PCI; low technology). The results of repeatability (95% range) for oxygen cost were 13.1% in children and 13% in adults. In contrast, the SD of PCI was 6 to 72% of the mean in adults and wider in children (91%; 95% range). The validity of PCI as an outcome measure was questioned. In addition, 177 children with motor disability were prospectively studied using the Cosmed K4. Previous experience with the Cosmed K2 (intermediate technology) helped to develop a practical and repeatable protocol for testing children with disability using the Cosmed K4. The protocol commenced with 5 minutes of rest to achieve baseline values of heart rate and oxygen consumption, followed by 10 minutes of continuous walking at a self-selected speed on a 10-metre level oval walking track. The test concluded with 5 minutes of rest to monitor the return to baseline values. Ninety-one percent of the children with disability quickly reached a steady-state of oxygen consumption and carbon-dioxide production. The carbon-dioxide sensor in the Cosmed K4 has enabled a new group of severely involved children with cerebral palsy (9%) to be defined. These children have been termed ‘physiologically marginal ambulators’.

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.

To determine the outcome at 1 year of neonatal encephalopathy (NE) and to estimate the possible contribution of birth asphyxia to childhood disability in a low-income South Asian country, a prospective cohort study was undertaken in the principal maternity hospital of Kathmandu, where over 50% of local women give birth. From a total population cohort of 21609 live births, 131 term infants with NE (after exclusion of cases associated with neonatal sepsis, congenital malformations, or primary hypoglycaemia) and 208 term control infants were recruited. Of these, 102 (78%) infants with NE and 106 (51%) control infants were followed-up to 1 year of age. Outcome measures were death or neurodevelopmental impairment, graded as major, minor or none. Of the 131 term infants with NE, 83 were graded with moderate or severe NE according to conventional definition. By 1 year of age, 45 (44%) of the infants with NE had died, 18 (18%) had severe impairments, and two (2%) had minor impairments; four (4%) of the control subjects had died and two (2%) had minor impairments. Most deaths in subjects with NE occurred in the early neonatal period; NE carried no excess risk of death beyond the neonatal period. Of the 18 children with major impairment, 14 (78%) had spastic tetraplegic cerebral palsy and eight (44%) had multiple impairments. Compared with the control group the relative risk of death by 1 year was 5 (95% CI 1.4 to 15) for mild NE, 8 (95% CI 3 to 23) for moderate, and 26 (95% CI 10 to 67) for severe. Twenty-seven of 38 (71%) infants with moderate NE either died or survived with major impairment. An upper estimate for the prevalence of major neuroimpairment at 1 year attributable to birth asphyxia is 1 per 1000 live births in this population.

The cutaneous flexion reflex has been used to study spinal sensory processing in 68 infants (37 female, 31 male) aged between 28 and 42 weeks postconceptional age (PCA). Mechanical and electrical stimuli were singularly and repeatedly applied to the foot, and single-surface EMG responses were recorded from the biceps femoris muscle. A clear correlation was demonstrated between the mechanical stimulus intensity and latency and the amplitude of the reflex. Mechanical threshold normally increased with age, but the flexion-reflex threshold was lowered by local limb-tissue damage in the contralateral limb. The incidence of response to repeated mechanical stimulation at 2.8 × threshold decreased significantly with increasing age. Repeated mechanical stimulation at 2.8 × threshold caused a build-up in the size of the response followed by a diminution. The flexion reflex can, therefore, be used to investigate sensory processing in the neonate, and the effects of tissue damage. The importance of using natural rather than electrical stimulation is highlighted.

An 11-year-old boy's epileptic seizures started with a feeling of impending crisis, dizziness, headache, and a bad taste in the mouth. This was followed by swallowing and a burning sensation in the left hand. At the same time, other parts of the body experienced allodynia. MRI and CT scans showed a right anteromesial temporal lesion which proved at neuropathology to be a ganglioglioma. Lesionectomy resulted in complete cessation of seizures. Seizures were absent at an 18-month follow-up. Allodynia is discussed in relation to the locality of the lesion.

The control of human locomotion uses afferent information from many sources within the visual, vestibular, and proprioceptive systems: central generators and programmes interacting with peripheral reflexes represent only a portion of the mechanisms involved. Spinal-reflex pathways and descending tracts converge on common spinal interneurons and thus play an integrative role in regulating the input from descending tracts and spinal reflexes. The weakness of studies carried out on humans in this field is due to the fact that human motor-control mechanisms can only usually be surmised by indirect methods such as knowledge gained from animal experiments. Although there are common features between the pattern of activity and the underlying neuronal mechanisms during quadripedal locomotion in cats and that seen during bipedal gait of humans, there are also distinct differences.