Our aim was to study trends in the prevalence of pervasive developmental disorders (PDD) and to quantify their association with morphogenetic anomalies and with perinatal characteristics such as gestational age, birthweight, and hospitalization in a neonatal care unit. Data from a French morbidity register of childhood disabilities with the use of consistent definitions over time within the same geographical area were analyzed. The data of a total of 454 children (312 males, 142 females) with PDD, born between 1980 and 1993 and residing in Isère county, were recorded at the age of 7 years. The overall prevalence of PDD was 22.2 out of every 10000. There was a significant increase, from 14.7 to 30.8 out of every 10 000, during the period of study. Among these children with PDD, morphogenetic anomalies were observed in 12.1% (95% confidence interval [CI] 9.3–15.5), and the hospitalization rate during the neonatal period was 22% (95% CI 17.0–27.5), which is significantly higher than the observed rates in the general population. The increase in the prevalence of PDD, the association with perinatal risk factors, and the high rate of neonatal hospitalization require further studies to investigate the reasons for and mechanisms of these developmental disorders.

This study examined attention abilities of children with 22q.11 deletion syndrome. Thirty children (14 males, 16 females; age range 7 to 13y) were given comprehensive neuropsychological and neuropsychiatric assessments. Learning disability was found in 13 children. Superiority in verbal over performance IQ was very common. Attention-deficit–hyperactivity disorder (mainly of inattentive subtype) was diagnosed in 13 children. There appeared to be a relation between low IQ and presence of autism spectrum problems. The presence of attention deficits was clearly supported by the scores on the Child Behavior Checklist and the Conners Questionnaire. On the Becker attention tests the reaction times were significantly longer in the two visual and auditory tests, indicating that the ability to sustain attention is critically impaired in this group. A tendency of inferiority on auditory compared with visual tests was noted but there were no specific problems with the focus–execute aspect of attention.

The aim was to investigate the performance of children with attention-deficit–hyperactivity disorder (ADHD) in tasks involving motor–memory representations. A special grip object recorded forces generated by the fingertips during a precision grip–lift task. Common objects were lifted from a linear scale. Twenty-five boys with ADHD were evaluated and grouped according to the presence (ADHD+) or absence (ADHD) of movement dysfunction using the Movement Assessment Battery for Children (Henderson and Sugden 1992). Mean group ages were 11.4 years(range 9.0 to 11.0 years) and 11.7 years (9.0 to 15.6 years), respectively. They were compared to a control group of 25 age-matched boys, mean group age 11.8 years (range 9.0 to 13.0 years). Variability of motor performance was predominant in the ADHD+ group. Several of these participants presented a higher grip-force output during the gripping movement. They also had difficulties in adapting the motor output to target different weights, suggesting deficient anticipatory parameter control based on memory representations. The results suggest that in some children motor problems are due to detrimental neural control functions rather than core symptoms of ADHD.

If a group of metabolic paediatricians had been asked 10 years ago which disorders they thought would be the most treatable at the start of the new millennium, very few would have mentioned lysosomal storage disorders (LSDs). The early onset, progressive nature, and tendency to involve the CNS have always been regarded as major hurdles to effective treatment. However, the final decade of the 20th century has seen developments in organ transplantation, enzyme replacement therapy (ERT), and gene transfer so that curative treatment for at least some of these disorders is no longer a distant goal.

This study examines the prevalence of cerebral palsy (CP) in two north-east Italian provinces, Padua and Rovigo (overall population 1030000). Six-hundred and ten children with a diagnosis of CP (330 male, 280 female), born between 1965 and 1989, were studied. The prevalence of CP progressively increased from the 1960s to the mid-1980s, and then decreased in the 5-year period, 1985 to 1989. These quantitative changes were associated with qualitative ones. For example, the number of low-birthweight (LBW) infants progressively increased, similar to results of epidemiological studies from other European countries. The clinical features of the types of CP in this study (hemiplegia, diplegia, ataxic diplegia, quadriplegia, pure ataxia, dyskinesia) generally correspond with those described in other studies. However, the prevalence of quadriplegia in this study is higher. The prevalence of types of CP related to preterm birth, such as diplegia, increased over the years, while those associated with term babies, such as dyskinesia, decreased. This study suggests that prenatal factors are associated with some types of CP, while in others, such as diplegia, quadriplegia, and dyskinesia, the perinatal factors are notable. Perinatal factors were associated with LBW children, while prenatal factors were greater for normal-birthweight infants. The variation in the prevalence of CP over the years, with two peaks corresponding with the introduction of neonatal intensive care units in Padua and Rovigo, suggests that changes in neonatal care could influence the levels of CP, independent of the original presence of predisposing prenatal factors.

The aim of this study was to compare the linear growth of children with cerebral palsy (CP) with that of children without CP. The segmental lengths (humerus, ulna, femur, tibia, and spine), recumbent length, body weight, and bone age of 62 children with CP (age range 2.25 to 14 years, mean 7.13 years) were measured and compared with 68 children without CP (age range 1.50 to 12.67 years, mean 6.73 years). The results show that bone-age delay is common in children with CP (68% with a delay of more than 1 year). The linear growth of children with CP is similar to that of children without CP when bone age is used instead of chronological age. There is a strong correlation between segmental lengths and body height. Hence, this study favours using segmental lengths for estimating height in children with CP and using the comparison group as a reference for this purpose. Nutritional and non-nutritional factors on bone-age delay are discussed.

The effects of age on basic fine motor functions were assessed using a kinematic analysis of simple repetitive drawing movements in a sample of 53 right-handed children aged 7 to 14 years 11 months and 16 adults aged 27 to 54 years with no detectable abnormality with neurological examination. Lines, circles, and half-circles were drawn at a self-chosen and maximum velocity with a pressure-sensitive pen on a computer graphics tablet. Patterns generated by finger, wrist, and arm movements, and those generated by combined finger–wrist movements with and without a change in the drawing direction were analysed. The frequencies of all movement patterns increased until adulthood: 0.1 Hz per year for half-circles, 0.15 to 0.2 Hz per year for circles and lines generated by arm and wrist movements. The greatest increase (0.35 Hz per year) was observed for lines produced by finger movements. Differences in movement frequencies between finger versus wrist or arm movements when drawing lines decreased from about 3 Hz in 7- to 8-year-olds to 0.5 to 1 Hz in adolescents. In adults the difference between maximum finger, wrist, and arm movement frequencies decreased to almost zero. In contrast, the differences in movement patterns with and without change in direction remained stable until adulthood. Based on these results it is hypothesized that the differential effects of finger and more proximally generated movements on age reflect maturation of distinct neuronal sites of the cortico-striatal–cerebellar circuit rather than acquisition of motor skills or myelinization of corticospinal pathways.

The relationship between positron emission tomography (PET) findings and developmental or seizure outcome was examined in 17 infants (11 males, six females; mean age at onset of spasms 7 months, range 3 to 26 months) with newly diagnosed cryptogenic West syndrome. The predictive value of PET in these infants was assessed. PET was performed in the infants at the onset of spasms and 3 months after initial therapy using 18F-labelled 2-deoxy-2-fluoro-D-glucose. A third PET was performed at 18 months of age if the second scan was abnormal. All infants were followed up until at least 3 years of age. Cortical hypometabolism was detected in 11 infants on the first PET and in five infants on the second. Rate of developmental delay at the last follow-up was significantly higher in infants with hypometabolism on the second PET than in those without PET abnormalities (p<0.05). Rate of seizure occurrence after initial treatment was higher in infants with cortical hypometabolism on the second PET, but the difference was not statistically significant. Results suggest that when PET after the initial treatment shows no abnormalities, even though the first PET shows hypometabolism, infants with cryptogenic West syndrome may have a favourable developmental or seizure outcome. PET may be a useful tool in evaluating the prognosis in infants with cryptogenic West syndrome.

Kabuki syndrome is a dysmorphogenic syndrome which has been reported in over 300 patients since it was first described in Japan in 1981. In addition to its cardinal features (typical facies, mild-to-moderate learning disability, short stature, skeletal anomalies, and dermatoglyphic abnormalities with persistent foetal fingerpads), neurological anomalies are frequently reported, including epilepsy in 8% of those with the syndrome. We present here a 22-year-old white female patient with refractory partial epilepsy, Kabuki syndrome, and bilateral perisylvian polymicrogyria on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.

The purpose of this study was to investigate the effectiveness of Johnstone pressure splints (JPSs) on spasticity and cutaneous sensory inputs in children with spastic cerebral palsy (CP). Thirty-four children with spastic diplegic CP participated in this study. Children whose motor development levels were similar were divided into a treatment and a control group. Each group consisted of 17 participants (six females and 11 males). Mean age of the treatment group was 48.82 months (SEM 4.42), and the control group, 47.52 months (SEM 5.27). The treatment group underwent Bobath's neurodevelopmental therapy (NDT) combined with JPSs. The control group underwent NDT alone five days a week for three months. Before and after treatments, lower-extremity passive range of motion (ROM) by goniometric measurements, spasticity by Modified Ashworth Scale (MAS), and somatosensory evoked potentials (SEPs) were measured. Passive ROM showed significant improvements in both groups (p<0.01). In the treatment group, all MAS scores increased. In the control group, the difference was significant except for values of internal rotator muscles. Improvements in passive ROM in the treatment group were significantly higher than the control group except in hip abduction and external rotation (p<0.05). MAS scores of the treatment group were significantly higher than the control group (p<0.05). SEP values increased in both groups but values of the treatment group were significantly higher than the control group (p<0.05).

In the this study, both fine and gross motor ability of males with attention-deficit–hyperactivity disorder (ADHD) were compared with a group of control children. Three groups of males with the following ADHD subtypes: predominantly inattentive (ADHD-PI; n=50), hyperactive/impulsive (ADHD-HI; n=16), or combined (ADHD-C; n=38) were compared with 39 control males. Mean ages for the control group were 10 years 4 months (SD 1 year 4 months, range 7 years 8 months to 12 years 11 months); for the ADHD-PI group, 10 years (SD 1 year 2 months, range 7 years 10 months to 13 years); for the ADHD-HI group, 9 years 11 months (SD 1 year 2 months), range 7 years 11 months to 12 years 6 months); and for the ADHD-C group 10 years 2 months (SD 1 year 4 months, range 8 to 13 years). The Australian Disruptive Behaviours Scale and Connors' Parent Rating Scale-Revised were used to assess ADHD symptomatology. Verbal IQ was estimated using two verbal subtests of the Wechsler Intelligence Scale for Children, and movement ability was assessed using the Movement Assessment Battery for Children (MABC) and the Purdue Pegboard test. Findings demonstrated that the children with ADHD had significantly poorer movement ability than control children. A high percentage of these children displayed movement difficulties consistent with developmental coordination disorder (DCD). In addition, the current study found that the type and degree of movement difficulty differed between subtypes. The Total Impairment score, as derived from the MABC, was less severe for the ADHD-HI group than the other two ADHD groups, but more severe than for the control group. Males with ADHD-PI and ADHD-C had significantly poorer fine motor ability (p<0.001) than control males, whereas the ADHD-HI group did not differ significantly from any of the other groups. As children with ADHD only and the control group did not differ significantly on fine motor ability but were significantly better than children categorized with both ADHD and DCD, it was argued that poorer fine motor ability found in children with ADHD could not be attributed to deficits in attention and concentration, but rather to factors relating to their motor ability.

Injury to the developing cortical plate can result in a variety of neuronal migration disorders. The results are reported of experimental research aimed at determining whether these different types of neocortical malformations are the consequence of comparable injury of varying intensity. Freezing probes were placed on the skulls of 44 newborn rats (age equivalent to 4 to 5 months of gestation in humans) and induced either one or two freezing injuries of durations ranging from 2 to 20 seconds. A variety of cortical malformations including minor laminar dysplasias, molecular layer ectopias, microgyria, and porencephalic cysts were seen in the brains of these animals when they were examined on postnatal day (P)2, P21, and P60. The severity of the malformation was directly related to the strength (number of hits and duration) of the freezing injury. These results suggest that a single etiologic event of varying severity during neuronal migration to the neocortex can induce widely disparate malformations of the cortex.

magnetic resonance imaging (mri) of a 5-day-old female born at term with congenital leftsided hemiplegia revealed t2 shortening and t2* signal dropout lining the lateral wall of a focally enlarged right lateral ventricle, reflecting the deposition of haemosiderin or ferritin derived from periventricular venous infarction in utero. this observation strengthens the hypothesis that congenital hemiplegia in children born at term can result from a clinically silent periventricular venous infarction in utero. the loss of shortening of t2 in the right posterior limb of the internal capsule at birth was followed by prolongation of t2 at 1 year. it is important to evaluate the asymmetry of the posterior limb shown by mri to predict future hemiplegia and enable early therapy.

Transdermal scopolamine may be used to reduce drooling in children with disabilities. Side-effects include dilated pupils and a reduction in the near point of accommodation (the closest point at which clear vision is possible). Two male children with epilepsy, one with spinal dysraphism (aged 7y 6mo) and one with cerebral palsy (aged 5y 8mo), who have undergone treatment for drooling with transdermal scopolamine are described. Near visual acuity was reduced, and both children showed dilated pupils with reduced or no response to light. These responses became normal on cessation of the scopolamine patch. As the effect of this drug may be cumulative, and many patients are unable to communicate difficulties, clinicians need to be aware of these possible side-effects.

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.

To evaluate the presence of electrophysiological abnormalities in the visual function of young persons with diabetes, visual evoked potentials were recorded, in basal conditions and after photostress, in 30 patients with newly diagnosed insulin-dependent diabetes mellitus. Their mean age was 17.6 years (3.6 SD), and their glycosated haemoglobin (HbA1c) was 9.4% (1.6 SD). Thirty healthy age- and sex-matched individuals were evaluated as the control group. This study showed that the P100 latency was significantly delayed in patients with diabetes compared with the control group (p<0.01), while the N75 to P100 amplitude was similar in both groups. These measurements were repeated after 6 months, when all participants with diabetes had achieved good metabolic control (HbA1c 7.2% [1.5 SD]). At this second evaluation a complete normalisation of all parameters was observed. These findings suggest that early functional abnormalities of the optic nerve can be detected at onset of diabetes, and that glycaemic control reverses these abnormalities.

Neurological integrity in sick children is difficult to assess clinically. The aim of this study was to determine the predictive value of EEG activity recorded with a bedside EEG analysing monitor in an intensive care unit. EEG activity was monitored in 108 children (age range 2 weeks to 16 years, median 1.7 years) considered at risk for cerebral abnormalities with a cerebral function analysing monitor (CFAM). Recordings were evaluated for features of background EEG activity including mean amplitude, frequencies, and symmetry. Electrical seizure activity was quantified if present. Predictive value of the EEG features was evaluated relative to the clinical neurological outcome after one year. Asymmetrical recordings were not seen in any child with a normal outcome. Suppression of background activity was seen in 75% of the children who died. Seizures were present in 68% of children with a poor outcome. Seventeen of the 32 children (65%) who died had prolonged seizures. Absence of seizures and the presence of superimposed fast EEG activity in response to benzodiazepine infusions correlated with good outcome. A combination of two or more predictive EEG features demonstrated >90% specificity and positive predictive likelihood of poor outcome. EEG features provide information about the functional cerebral integrity of sick children. Changes in cerebral activity detected by the CFAM aid decision making by providing such information readily at the bedside in intensive care.