Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.

The objective of this study was to develop a method to use digital signal processing (DSP) technology to describe quantitatively and statistically swallow-associated sounds in preterm infants and to use this method to analyze changes as infants mature. Twelve recordings of accelerometric and physiological data on bottle-feeding preterm infants between 32 and 39 weeks' postmenstrual age (PMA) were analyzed. Cervical auscultation was performed using an accelerometer attached over the larynx. Acoustic data were recorded and graphically displayed using DSP software. Initial discrete sounds (IDSs) were identified and used to construct an average waveform from which a ‘variance index’ (VI) was calculated for each infant. The shape of the IDS waveforms became progressively more uniform with advancing PMA, as indicated by a significant inverse correlation between VI and PMA (r=0.739; p=0.006). DSP technology facilitated the development of a new method to quantitatively analyze feeding in preterm infants. This method provides an elegant tool to track maturation of infant feeding and assessing feeding readiness. This technique makes the interpretation of cervical auscultation data less subjective by replacing the verbal description of the sounds of feeding with quantitative numeric values. It is anticipated that this method can be automated to facilitate further the analysis of cervical accelerometry data.

This study presents a comprehensive evaluation of therapeutic motor interventions for children with or at risk for cerebral palsy (CP), examining 50 studies covering the period from 1990 to 2001. The purpose was to review noticeable changes in the scientific quality of the studies and to highlight trends and changes in the nature of the evaluated programmes. Our results were compared with those of Vermeer and Bakx (1990) who reviewed the period from 1980 to 1989. It was concluded that fundamental research with adequate methodology was applied more often in the study period than in the period reviewed by Vermeer and Bakx. However, these developments did not lead to a substantial improvement in the scientific foundation of the interventions under study. Single case studies, combined with efforts to develop measures specifically for children with CP and with high sensitivity, might make more valuable contributions to the scientific justification of therapeutic interventions.

Children with hemiplegic cerebral palsy (CP) commonly exhibit tactile sensory deficiencies in their hands in addition to their motor problems. The aim of this study was to compare and evaluate the usefulness of some common tests of tactile sensibility for use with children with hemiplegic CP. Twenty-five children with hemiplegia aged between 5 and 18 years, and 19 control individuals participated. All children were examined with Semmes–Weinstein monofilaments, two-point discrimination (2PD), stereognosis of familiar objects, stereognosis of forms, and functional sensibility. Dexterity, spasticity, and bimanual task performance were also assessed. Results from the different sensory tests deviated greatly. We found three tests to be useful: 2PD of 3mm spacing, which was the most sensitive test, stereognosis of familiar objects, and functional sensibility assessed through the Pick-up test (comparing performance with and without the influence of vision). Stereognosis of forms and threshold values of touch (Semmes–Weinstein monofilaments) are seemingly less useful tests for children with CNS impairments. Deficient sensibility was strongly related to dexterity. Aspects concerning the testing methodology are discussed.

This study retrospectively investigated the developmental perspective of 69 children (40 males, 29 females) with ‘potentially simple’ congenital disorders of the peripheral visual system: development was examined in the context of degree of visual impairment. Developmental and visual assessments were carried out at 10 to 16 months (Time 1) and 27 to 54 months of age (Time 2). Participants were grouped according to (1) visual status: profound visual impairment (PVI), severe visual impairment (SVI); (2) developmental status on the Reynell–Zinkin scales. A majority of the sample showed normal development on all subscales (62% Time 1, 57% Time 2). Those with PVI were more developmentally vulnerable than SVI with a greater incidence of (1) uneven developmental profile at Time 1 (48% PVI, 16% SVI); (2) global learning difficulties at Time 2 (37% PVI, 0% SVI); (3) delay on individual subscales at Time 2 (p<0.02 PVI versus SVI); (4) deceleration (verbal comprehension 74% PVI, 24% SVI, sensorimotor understanding 70% PVI, 27% SVI); and (5) severe developmental setback (33% PVI, 7% SVI). Risk factors of visual level, age, and sex for poor developmental outcome in infants with visual impairment were established.

The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) in the non-ambulatory stages of the diseases. Nineteen non-ambulatory participants with DMD (all males; 13 to 24 years) and 13 with SMA (six males, seven females; 11 to 57 years) were assessed once a year over 5 years. The assessments comprised functional ability measured with the EK scale and upper extremity grade, muscle strength measured with the manual muscle test, and forced vital capacity defined as a percentage of normal values (FVC%). In the DMD group all variables measured deteriorated and there was a direct correlation between them. In the SMA group only muscle strength and FVC% deteriorated and there was no close relation between the variables measured. In the DMD group, 16 participants had cardiorespiratory clinical events leading to death in five cases. In the SMA group only four participants had respiratory clinical events, none leading to death. Although the participants with SMA had been extremely weak and non-ambulatory since early childhood they were older and less exposed to life-threatening events than the participants with DMD.

Following agreement on definitions and classification, a central database was set up to include information on over 6000 children with cerebral palsy (CP) from 13 geographically defined populations in Europe. The overall rate for the period 1980 to 1990 was 2.08/1000 live births (95% CI 2.02 to 2.14). One in five children with CP (20.2%) was found to have a severe intellectual deficit and was unable to walk. Among babies born weighing less than 1500g, the rate of CP was more than 70 times higher compared with those weighing 2500g or more at birth. The rate of CP rose during the 1970s, but remained constant during the late 1980s. Future analyses will include data from children born in the 1990s. This collaborative work provides a powerful means of monitoring trends in birthweight-specific rates of CP and an infrastructure for research and service planning.

Neuroborreliosis is an infection of the nervous system caused by the spirochete Borrelia burgdorferi, from which patients most commonly develop lymphocytic meningitis, radiculoneuritis, or cranial neuropathy. In this report a 9-year-old male with an unusual neurological complication of neuroborreliosis – benign intracranial hypertension (BIH) – is described. Clinical symptoms of BIH, which consist of increased CSF pressure in the absence of an intracranial mass or obstruction to the circulation of CSF, resolved completely after antibiotic therapy with ceftriaxone.

The most dramatic increase in brain volume occurs in the last three months of fetal life and the first two years after birth. Concomitantly, the skull follows the volumetric increase in the cerebral hemispheres mostly by passive adaptation. The relationship between head and brain growth explains why the classical neurological assessment in infancy universally includes measurement of head circumference (HC). However, this crude information derived from HC measurement remains insufficient to qualify brain growth. One way to better document the relation between brain and skull could be to rely on the correlation between HC and body growth parameters, given a general agreement on the definition of proportionate and disproportionate head–body growth. Significant information with respect to the integrity of the underlying cerebral hemispheres can also be provided by systematic palpation of the main cranial sutures. In particular, the distension or overlapping of the squamous sutures which are strategically located at the junction of the cranial vault and the cranial base could be a valid marker of brain growth disorder.