A diagnosis of 22q.11 deletion syndrome (del22q.11) in a child brings with it a plethora of uncertainty in terms of developmental and neuropsychiatric prognosis. This relatively common genetic disorder has a highly variable phenotype with a multitude of potential physical features including palatal anomalies, congenital heart defects, facial dysmorphism, immunodeficiency, and hypoparathyroidism. As a result, patients may present in paediatric, cleft lip/palate, psychiatric, or antenatal clinics. It is necessary, therefore, that the multidisciplinary team are aware of this diagnosis. The overall clinical phenotype ranges from subtle isolated findings to severe multisystem involvement, even in the same family. The neurobehavioural phenotype is also highly variable. The spectrum of developmental delay, learning difficulties, behavioural problems, speech and language deficits, and psychiatric disorders seen in del22q.11 is well recognized. The implications for parents, medical professionals, educational staff and, indeed, the patients are significant. Thus, better understanding of the cognitive and behavioural problems could lead to the development of effective, targeted interventions and improved management.

The International Workshop on the Definition and Classification of Cerebral Palsy have proposed a fresh definition and classification of cerebral palsy (CP; p 571). In their accompanying paper they explain their reasoning behind this. Why is there the need for revision of the widely accepted and comfortably familiar definitions of Bax and Mutch? These definitions are beautifully succinct and clear but perhaps not inclusive enough, making no mention of pathogenesis or of the functional and ‘non-motor’ features of CP which are most significant when it comes to everyday life. There has been debate in the past as to whether a more aetiological definition should be adopted but we are not yet ready for this. CP remains unexplained in around 15% of children, even after good neuroimaging and metabolic investigation and we recognize that a wide range of CNS disorders can result in a similar clinical picture. Thus, a predominantly phenotypic definition and classification remains the most appropriate. The workshop clearly deliberated long and hard over every word of the revised definition producing a much more detailed description of CP that now encompasses the effect on function (activity limitation) and the comorbid features. As a result, the definition is longer and it does not ‘trip off the tongue’ in the way the old ones did.

As First Vice-President of the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM), I have the privilege of writing the editorial for the September issue of Developmental Medicine & Child Neurology (DMCN) which coincides with the annual meeting of the Academy. My interest in spinal muscular atrophy (SMA) and children with disabilities was spurred by one patient, whom I met early in my career at Newington Children's Hospital, Connecticut, USA. Although DMCN has not published many articles on the subject of SMA in the past 10 years (8 of 1389 articles), I would like to take this opportunity to discuss my experience of this condition. This autosomal recessive disease, of which our knowledge has changed greatly over the past 30 years, is the second most common recessive disease in infancy and childhood.

There is a broad consensus that language is, in most right-handers and in a substantial part of left-handers, controlled by the left hemisphere. This seems to be, at least in part, genetically determined, as neuroanatomical asymmetries have been observed already prenatally (e.g. a larger left planum temporale). Left hemisphere lesions in adolescents and adults accordingly lead to persistent language deficits. However, this is not the case in lesions acquired prenatally or in early childhood.

The effects of congenital, unilateral, focal brain lesions on early linguistic development and hemispheric lateralization for language were investigated longitudinally in 24 preschool children with hemiplegia(14 males, 10 females), 12 with left hemisphere damage (LHD) and 12 with right hemisphere damage (RHD). A comprehensive linguistic assessment was performed at 2 and 3 years of life; cerebral lateralization for language was measured by the Fused Dichotic Words Listening Test. An early left-side specificity for language was indicated by the presence of lexical and grammatical delay in most children with LHD. In the dichotic listening test all 12 children with LHD showed a shift of language lateralization from the left to the right hemisphere. Atypical lateralization coefficients (lambda), i.e. values falling more than two standard deviations from the mean of a normative sample, were associated with a delay in lexical and grammatical development, especially after LHD. In addition, cortical–subcortical–periventricular lesions rather than solely periventricular damage, and larger lesions rather than small, were associated with the most atypical lateralization coefficients, irrespective of lesion side. Results of this study suggest that language and lateralization data are closely related and that reallocation of language functions in alternative regions of the brain has a cost in terms of a slow rate of language acquisition.

Children with motor coordination problems are known to have emotional difficulties and poor social skills. The current study investigated whether children with poor motor ability have poor emotion recognition skills, and whether these could be linked to problems in social behaviour. It was hypothesized that difficulties in empathic ability might be related to the poor visuo-spatial processing ability identified in children with developmental coordination disorder (as defined by the American Psychiatric Association). The relationship between motor coordination, emotion recognition, and social behaviour was examined in a sample of 234 children (113 males, 121 females; mean age 9y 7mo, [SD 1y 8mo] age range 6y 8mo to 12y 11mo). From this sample two groups of 39 children each (17 females, 22 males), one group with motor difficulties (mean age 9y 11mo [SD 2y], range 6y 11mo to 12y 11mo) and the other of control children (mean age 10y [SD 1y 11mo], range 6y 11mo to 12y 11mo), matched for age and sex, were compared using a set of six emotion recognition scales that measured both verbal and perceptual aspects of empathic ability. Children with motor difficulties were found to perform more poorly on scales measuring the ability to recognize static and changing facial expressions of emotion. This difference remained even when visuo-spatial processing was controlled. When controlling for emotion recognition and visuo-spatial organization, a child's motor ability remained a significant predictor of social behaviour.

The aim of this study was to observe any changes in cardiac and respiratory function that occur during seizures. Thirty-seven children (20 males, 17 females; median age 7y 6mo, range 1y 6mo to 15y 6mo) were studied. We recorded electroencephalograms, respiratory rate, heart rate, electrocardiograms, blood pressure, oxygen saturation, heart rate variability (time domain analysis), and cardiac vagal tone. A respiratory pause was defined as an interruption in respiration lasting more than 3s but less than 15s. Apnoea was defined as absence of respiration for more than 15s. Tachypnoea was defined as a 10% increase in respiratory rate from the pre-ictal baseline. Bradypnoea was defined as a 10% decrease in respiratory rate from the pre-ictal baseline. Significant hypoxia was defined as a saturation of less than 85%. A significant change in heart rate was taken as a 10% increase or decrease below the baseline rate. Data were obtained from 101 seizures: 40 focal seizures, 21 generalized seizures, and 40 absences. Focal seizures were frequently associated with significant respiratory abnormalities, tachypnoea in 56%, apnoea in 30%, frequent respiratory pauses in 70%, and significant hypoxaemia in 40%. The changes seen in respiratory rate were statistically significant. Changes in cardiac parameters, an increase or decrease in heart rate, were observed in only 26% of focal seizures and 48% of generalized seizures. We conclude that seizure activity can disrupt normal physiological regulation and control of respiratory and cardiac activity.

In this issue Majnemer and Barr (p 370) bring to our attention two groups of 4 and 6-month-old infants, who had spent much of their time supine. As the authors describe some aspects of their immediate early development, I find myself being repeatedly reminded of other associated and longer-term aspects of position-related development. In their discussion the authors rightly remind us that ‘infant motor development involves a dynamic interplay between intrinsic maturation of the musculoskeletal and nervous systems and extrinsic experiences’. But what about genetic bias?

in the past few years, the biochemistry of the ataxia–telangiectasia mutated (atm) protein and our knowledge of its cellular functions has surged ahead. the neurology of ataxia–telangiectasia (at), including its presenting features in early childhood, as well as its progression and further ramifications in early adulthood, were discussed at the international conference on at in birmingham, uk.

Twenty-three low-birthweight infants (17 males, six females) diagnosed with cystic periventricular leukomalacia (PVL; median gestational age 30wks, postmenstrual age range 25 to 36wks; median birthweight 1365g, range 680 to 2010g) were evaluated and compared with 209 comparison infants (117 males, 92 females; median gestational age 33wks, postmenstrual age range 25 to 39wks; birthweight 1771g, range 670 to 2460g). There were three assessment times: 36 to 38 weeks (preterm), 40 to 42 weeks (term), and 44 to 46 weeks (post-term); the Neonatal Behavioral Assessment Scale (NBAS) was used for assessment. Outcome at 2 years was assessed on the basis of a neurological examination, magnetic resonance imaging, computerized tomography, electroencephalography, and the Mental and Psychomotor Development Indices of the Bayley Scales of Infant Development. All infants in the PVL group were found to have evidence of cerebral palsy, whereas all infants in the comparison group were normally developing. Infants with PVL performed more poorly on all elements of the NBAS examination at all three assessment times compared with the comparison group. They demonstrated poorer motor control, less responsiveness to environmental stimuli, less regulatory capacity, and more abnormal reflexes compared with the comparison group. These results suggest that LBW infants with PVL show dysfunction and/or disorganization in their neurobehavioural systems in the neonatal period. Assessment of neonatal neurobehavioural characteristics using the NBAS may assist clinicians in identifying LBW infants with PVL, and in formulating plans for the developmental care of these infants.

We report a longitudinal, prospective, multicentre cohort study designed to measure the outcomes of gastrostomy tube feeding in children with cerebral palsy (CP). Fifty-seven children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) were assessed before gastrostomy placement, and at 6 and 12 months afterwards. Three-quarters of the children enrolled (43 of 57) had spastic quadriplegia; other diagnoses included mixed CP (6 of 57), hemiplegia (3 of 57), undiagnosed severe neurological impairment (3 of 57), ataxia (1 of 57), and extrapyramidal disorder (1 of 57). Only 7 of 57 (12%) could sit independently, and only 3 of 57 (5%) could walk unaided. Outcome measures included growth/anthropometry, nutritional intake, general health, and complications of gastrostomy feeding. At baseline, half of the children were more than 3SD below the average weight for their age and sex when compared with the standards for typically-developing children. Weight increased substantially over the study period; the median weight z score increased from –3 before gastrostomy placement to –2.2 at 6 months and –1.6 at 12 months. Almost all parents reported a significant improvement in their child's health after this intervention and a significant reduction in time spent feeding. Statistically significant and clinically important increases in weight gain and subcutaneous fat deposition were noted. Serious complications were rare, with no evidence of an increase in respiratory complications.

Revisiting and updating the definition and classification of cerebral palsy (CP) is not just an academic task for the developmental paediatrician and neurologist but an exercise aimed at providing a framework for multidisciplinary management by all professionals and care providers involved in the care of children with developmental disabilities.

Virtual Reality (VR) Therapy is one of the emerging and most effective applications of VR technology, where patients are exposed to stimuli in fully controllable environments.

Cerebral palsy (CP) can occur in term infants with or without preceding newborn encephalopathy. We compared the type and severity of CP and associated disability in these two groups. Participants from a population-based case-control study of term newborn encephalopathy were followed up for 6 years and linked to the Western Australian Cerebral Palsy Register. The remaining term infants with CP for the same period were also identified from the Cerebral Palsy Register. 13% of neonatal survivors of term newborn encephalopathy had CP, a rate of 116 per 1000 term live births. Overall, 24% of term infants with CP followed newborn encephalopathy. CP following newborn encephalopathy was more likely to: affect males (72% vs 56%); be severe (47% vs 25%); and be of spastic quadriplegia or dyskinetic types. Cognitive impairment was more common (75% vs 43%) and severe (41% vs 16%), as was epilepsy (53% vs 29%) in survivors of encephalopathy. These children were also more likely to: be non-verbal (47% vs 22%); have a severe composite disability score (47% vs 26%); and die between time of diagnosis of CP and age 6 years (5-year cumulative mortality 19% vs 5%). Children born at term who develop CP following newborn encephalopathy have a poorer prognosis than those with CP who were not encephalopathic in the first week of life.

The objectives of this study were threefold: (1) to evaluate the accuracy of clinical evaluation compared with videofluoroscopic swallowing studies (VFSSs) in the detection of penetration and aspiration in children of age 0 to 15 years presenting with feeding and swallowing problems; (2) to assess the relationship between therapists' confidence ratings in making judgements about the presence or absence of penetration and aspiration, and the accuracy of their evaluation as confirmed by VFSSs; (3) to identify clinical predictors of penetration and aspiration during clinical evaluation of children with feeding and swallowing difficulties. We used a prospective study to evaluate the sensitivity, specificity, and positive and negative predictive values of a diagnostic clinical evaluation compared with VFSSs (criterion standard). Clinical evaluation and videofluoroscopy forms for oral motor and swallowing evaluation, which included potential indicators of aspiration, were designed for this project. Seventy-five children with feeding problems participated (33 females, 42 males; age range 0 to 14 years, mean 2 years; 62% of participants younger than 12 months). For fluids, clinical evaluation showed a sensitivity of 92% for aspiration. For solids, sensitivity for detecting aspiration was 33%. Analysis of the therapists' mean confidence ratings compared with the accuracy of their judgement demonstrated that when therapists were very sure that the child was aspirating or penetrating or not, they were correct. When the therapists were unsure, then the accuracy of prediction was not as good. Cough was the most significant predictor (p<0.05) of fluid aspiration and penetration. We conclude that clinical evaluation with experienced clinicians can detect aspiration and penetration of fluids in children of varied ages and diagnoses, but that it is not accurate with solids.

Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.

Assessment of the quality of general movements (GMs) in early infancy is a powerful instrument to predict cerebral palsy (CP). The aim of the present study is to explore the value of GM assessment in predicting minor neurological dysfunction (MND) at 9 to 12 years of age. Two groups of infants were studied prospectively: 28 low-risk full-term infants (11 females, 17 males) and 24 high-risk infants, mostly born preterm (<37 weeks; 11 females, 13 males). In each group the quality of GMs (normal or abnormal) was assessed during two developmental periods: the age at which ‘writhing’ GMs occur (36 weeks' postmenstrual age to 7 weeks' postterm) and the age at which ‘fidgety’ GMs occur (8 to 17 weeks' postterm). Eight of 24 high-risk infants were diagnosed as having CP at 4 to 9 years of age. The remaining 44 children were followed-up at 9 to 12 years. In children without CP, quality of GMs at ‘fidgety age’ was related to neurological condition (normal, simple MND, complex MND) at follow-up (rho=0.46, p<0.01). Abnormal GMs at ‘fidgety-GM age’ showed a specific relationship to the development of coordination problems (χ2=6.1, p=0.01) and fine manipulative disability (Fisher, p<0.05) at 9 to 12 years. This finding supports the notion that the quality of GMs may provide information on the integrity of complex supraspinal circuitries.

This study assessed the effect of an oral stimulation program on the maturation of sucking skills of preterm infants. Thirty-two preterm infants (13 males, 19 females), appropriate size for gestational age (gestational age at birth 28 wks, SD 1.2wks; birthweight 1002g, SD 251g), were randomly placed into experimental and control groups. The experimental group received a daily 15-minute oral stimulation program, consisting of stroking the peri- and intra-oral structures, for 10 days before the start of oral feedings. Sucking measures were monitored with a specially-designed nipple-bottle apparatus. Results indicate that the experimental group achieved full oral feedings 7 days sooner than the control group, and demonstrated greater overall intake (%), rate of milk transfer (mL/min), and amplitude of the expression component of sucking (mmHg). There was no difference in sucking stage maturation, sucking frequency, and amplitude of the suction component of sucking. Endurance, defined as ability to sustain the same sucking stage, sucking burst duration, and suction and expression amplitudes throughout a feeding session, was not significantly different between the two groups. The stimulation program enhanced the expression component of sucking, resulting in better oral feeding performance.

A study of 37 individuals with phenylketonuria (PKU; 17 females and 20 males, mean age 9y 9mo (standard deviation [SD] 5y 3mo), range 2y 8mo to 19y 4mo; and 35 individuals with hyperphenylalaninaemia (HPA; 20 females, 15 males, mean age 7y 10mo [SD 3y 2mo], range 2y 8mo to 17y 3mo) compared with 29 healthy controls (14 females and 15 males, mean age 9y 8mo [SD 4y 9mo], range 2y 6mo to 18y 10mo) was performed. The aim was to assess cognitive function in persons with HPA and to investigate the relation between cognitive function in PKU and the metabolic control of patients. A wide variety of neuropsychological tests was employed. Those with PKU showed lower values in intelligence and in visuo-spatial, fine motor, executive, and attention functions when compared with a control population. Plasma phenylalanine values from the first 6 years of life were negatively associated with intelligence and other cognitive functions. Executive function scores were significantly lower when comparing HPA patients with the control group. It was concluded that individuals with PKU under dietary treatment may present slightly decreased cognitive function scores when compared with control individuals, while those with HPA have scores mostly similar to those of controls, except for executive function tests. Good metabolic control of PKU seems necessary to prevent cognitive function impairments, especially during the first 6 years of life.

This study examined the association between infant developmental milestones and educational level at 31 years of age in the Northern Finland 1966 Birth Cohort (n=12 058). Developmental data (age at standing, walking, speaking, and measures of bowel and bladder control) were gathered from children's welfare centres. Information on type of schooling at 14 years of age was reported by children and parents. School achievement at 16 years of age and educational level at 31 years were obtained from national registers. Those who reached infant developmental milestones sooner in their first year of life had significantly better (p<0.05) mean scores in teacher ratings at 16 years, and at 31 years they were more likely to have achieved a better educational level than slower developers. The adjusted odds ratios for individuals who developed more slowly to remain at a basic educational level (7 to 16y) ranged significantly from 1.1 to 1.3. The possibility of advancing from secondary to tertiary level was 1.4 times greater in faster developers than in slow developers. In conclusion, those who develop faster during their first year of life tend to attain higher levels of education in adolescence and adulthood.