Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 individuals with FXS (age range 2 to 51 years: 113 males and 23 females). Seizures occurred in 15 males (13.3%) and one female (4.3%): of these, 12 had partial seizures. EEG findings were available for 35 individuals (13 of 16 with seizures and 22 of 120 without seizures) and showed an epileptiform abnormality in 10 (77%) individuals with seizures and five (23%) individuals without seizures – the most common epileptiform pattern being centrotemporal spikes. Seizures were easily controlled in 14 of the 16 individuals with seizures. Many individuals, including all with centrotemporal spikes, had remission of seizures in childhood. The most common seizure syndrome resembled BFEC and this pattern had the best prognosis for epilepsy remission. Deficiency of FMRP (fragile X mental retardation protein) appears to lead to increased neuronal excitability and susceptibility to epilepsy, but particularly seems to facilitate mechanisms leading to the BFEC pattern.

The aims of this study were to determine the types of chronic-stage EEG abnormalities that exist and to clarify their relation to neurodevelopmental outcome in preterm infants. We evaluated 183 preterm infants with gestational ages of less than 33 weeks (mean age 29.2 weeks) and weighing less than 2000g (mean weight 1275g). The first EEG was performed within 72 hours of life; thereafter, EEG was performed once every 1 to 4 weeks until the infant reached a post-conceptional age of 40 to 42 weeks. Two kinds of EEG abnormalities, acute- and chronic-stage abnormalities, were evaluated and we assessed mainly the latter. Chronic-stage EEG abnormalities were divided into two patterns: disorganized and dysmature. Periventricular leukomalacia (PVL) and intraventricular haemorrhage (IVH) were diagnosed on the basis of ultrasound findings. Psychomotor development was examined every 3 months after discharge until at least 18 months of the infants' corrected age. Disorganized and dysmature patterns were observed in 52 and 28 infants respectively. Among the 52 infants with disorganized patterns, PVL was observed in 31 and IVH in seven infants. Thirty-nine infants had cerebral palsy (CP). Twenty-six achieved normal cognitive development. Of the 28 infants with dysmature patterns, PVL was seen in one and IVH in 11 infants. CP was seen in five infants. Only eight infants achieved normal cognitive development. Gestational age and birthweight were significantly lower in infants with dysmature patterns than in those with disorganized ones. Results indicate that types of chronic-stage EEG abnormalities are related to types of neurological sequelae and are useful for assessing the mode of brain injury in preterm infants.

Periventricular flaring (PVF) or periventricular leukomalacia (PVL) was diagnosed by brain ultrasound during the neonatal period in 44 infants (34 males, 10 females; mean gestational age 31 weeks 2 days, SD 2 weeks 1 day) admitted between 1995 and 1997. The infants were divided into three groups according to the severity of their condition. At 0, 3, and 6 months' corrected age an age-adequate neurological examination with special emphasis on the relation between active and passive muscle power was performed and symmetry between right and left sides was assessed. Results for the whole body, as well as for the shoulders, trunk, and legs were classified as optimal, suspect, or abnormal. Motor outcome at 18 months' corrected age was graded in the same way. An overall optimal muscle power regulation was found in one infant at 0, two at 3, and one at 6 months. Suspect outcome was found at all ages in the three groups. At 0 months muscle power regulation did not differ between the three groups. At 3 and 6 months overall poor muscle power, primarily caused by poor muscle power regulation in the shoulders and trunk, was found in infants with PVL grades III or IV. At 18 months' corrected age 24 infants showed no neurological impairment, eight infants had minor impairment, and 12 infants had severe impairment, including all 10 infants categorized as having PVL grades III or IV. The best predictors of impairment at 18 months were the combined results of muscle power in the shoulders and trunk at 3 months with those of the shoulders at 6 months.

The study aimed to evaluate the effect of low-intensity night-time therapeutic electrical stimulation (TES) on arm strength and function in children with intermediate type spinal muscular atrophy (SMA). The design was a randomized controlled trial with a 6-month baseline control period. Children were evaluated at baseline, 6, and 12 months. TES was applied from 6 to 12 months to the deltoid and biceps muscle, of a randomly selected arm with the opposite arm receiving a placebo stimulator. Thirteen individuals with SMA between 5 to 19 years of age were recruited into the study and eight completed the 12-month assessment. No statistically significant differences between the treatment and control arm were found at baseline, 6, and 12 months for elbow flexors, or shoulder abductors on quantitative myometry or manual muscle testing. There was no significant change in excitable muscle mass assessed by M-wave amplitudes, nor function on the Pediatric Evaluation of Disability Inventory (self-care domain). Therefore, in this study there was no evidence that TES improved strength in children with SMA.

The aim of the present study was to generate normal reference data for anterior and middle cerebral artery blood flow velocity and resistance index in preterm and term infants during the first 8 hours of life. The study population longitudinally included 120 healthy preterm and term infants (gestational age 24 to 41 weeks), all of appropriate weight for gestational age. The following parameters were studied: peak-systolic velocity, end-diastolic velocity, mean velocity, and resistance index. All parameters were measured in the anterior cerebral artery, in the left middle cerebral artery, and in the right middle cerebral artery with the use of Doppler colour ultrasonography. In addition, we studied the ratio of mean arterial blood pressure to mean velocity in the three cerebral arteries as a further estimate of cerebral relative vascular resistance. We found that cerebral blood flow velocities increased significantly with increasing gestational age and birthweight, both in the anterior cerebral artery and in the right and left middle cerebral arteries. Resistance index, both in the anterior cerebral artery and in the middle cerebral arteries, increased significantly only with increasing gestational age. Relative vascular resistance decreased significantly with increasing gestational age and birthweight in the three cerebral arteries. Significant differences were found (p<0.05) in these values between the anterior cerebral artery and the middle cerebral arteries. The narrow time frame (2 to 8 hours) that we used to evaluate cerebral blood flow velocity often represents a significant moment at which decisions are made that can be fundamental for the outcome of the newborn infant.

The aims of this prospective study were (1) to examine whether quantitative and/or qualitative aspects of motor performance in 5- to 6-year-old children can predict attention-deficit–hyperactivity disorder (ADHD) 18 months later; (2) to investigate whether this relation is also present in oppositional defiant disorder and conduct disorder (ODD/CD). Quantitative and qualitative aspects of motor performance were tested in a selected community sample (n=401; 232 males, 169 females; mean age 6 years 4 months, SD 6 months, range 5 years 4 months to 7 years 11 months) using the Maastricht Motor Test. Eighteen months later, standardized psychiatric information was obtained with the Amsterdam Diagnostic Interview for Children and Adolescents: 35 children were classified as having ADHD, and 92 children as having ODD/CD. Weighted analyses were used in logistic regression analyses to investigate predictive values. Unlike quantitative aspects of motor performance, qualitative aspects were predictive of ADHD. Motor performance was not predictive of ODD/CD.

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at-risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at-risk and control groups was similar. However, motor development showed a different pattern in these groups. Cluster analyses revealed three clusters in the control group: ‘fast motor development’, ‘slow fine motor development’, and ‘slow gross motor development’. In the at-risk group, only two clusters were found: ‘slow motor development’ and ‘fast motor development’. A significant difference (p=0.03) was found between the clusters in the MacArthur Communicative Development Inventories. Children with familial risk for dyslexia and slow motor development had a smaller vocabulary and produced shorter sentences than all the other children. Associations between motor and language difficulties are discussed.

In patients with focal epilepsy, focal neurological dysfunction can occur due to status epilepticus and also as a post-ictal phenomenon. Bulbar dysfunction as evident by drooling, dysarthria, swallowing difficulties, and palatal–glossalpharyngeal weakness has been reported in conjunction with epilepsy. This is non-progressive and is correlated in its severity with the frequency of seizures. Accompanying EEG discharges are often localized to rolandic areas that cortically represent oral movements and salivation. We report a 6-year-old male and a 6½-year-old female with progressive bulbar dysfunction resulting from epilepsy. Ictal EEGs in patient 1 did not confirm a diagnosis of epilepsy. With no evidence of a cortical or brainstem focus from EEG or MRI, it is very difficult to explain the mechanism of bulbar dysfunction. The complete restoration of bulbar function after treatment with antiepileptic drugs demonstrates the need to consider epilepsy in similar clinical situations.

Outcome research is a relatively new field of investigation sparked by a number of changes in the health care system. One such movement – the promotion of evidence-based practice – has increased the demand for outcomes data. The recent explosion in the development of practice guidelines and clinical care maps has relied on outcome studies so as to ensure that these clinical guidelines are based on scientific knowledge. Furthermore, the expanding application of outcome measures in the clinical field has enabled service providers to audit ‘outcome’ information for particular populations, thereby altering and improving resources and programs, and prioritizing needs. In the field of research, the National Center for Medical Rehabilitation Research, USA has placed a high priority on this area of investigation.

Drooling is one of the more common associated dysfunctions in children with cerebral palsy (CP) and is perhaps the most problematic socially. In 1990, at the urging of the United Cerebral Palsy Research and Education Foundation, North American experts from a variety of related fields met in Charlottesville, Virginia, to address in a systematic way the subject of drooling. Based on the outcome of that gathering, known as the Consortium on Drooling, a review article was published in this journal, three instructional courses and one symposium were subsequently presented at AACPDM annual meetings, a number of local conferences and seminars have been generated, and several research projects have been undertaken. Thus, there has been considerable activity and some progress in the past 10 years but most of the fundamental issues still remain. The purpose of this annotation is to summarize briefly the new knowledge that has accrued, offer some personal insights based on experiences of the past decade and suggest a practical clinical approach to drooling management. For a systematic overview of salivary physiology, drooling, and the approach to diagnosis and treatment, the reader is referred to the 1992 review article.

This review draws together current understanding of the impact of visual impairment (VI) on early neurodevelopmental and neurobiological processes. The impact is recognized as being substantial. Two major problems make it difficult to draw conclusions from much of the literature on this subject. The first is the heterogeneity of samples of children with VI in terms of additional impairments that introduce multiple confounding variables: in Western societies the prevalence of additional impairments is 60 to 70%. Secondly, subgrouping according to the degree or severity of VI is inconsistent and can be suboptimal for developmental studies of infancy. Our group has reconsidered these questions of taxonomy and applied new ones to our recent research cohorts.