Peer-review assessment of manuscripts is generally accepted to be an appropriate way to help the editorial staff of scientific journals to reach informed decisions about which papers to accept for publication. It is also a means by which reviewers can contribute to the effective translation of new ideas into print. Implicit in this statement, however, are two assumptions: first, that editors can recruit skilled reviewers to guide the journals' decision-making efforts; and second, that reviewers will take the time to do a credible job of this unpaid, usually unsung work.

In this issue of the journal, there are three papers which each contribute to the discussion of a major issue in autism today.

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.

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.

Preterm infants are at high risk for developmental impairments at school age. However, the impact of these impairments on important life skills, such as handwriting, is unknown. Forty-eight first-grade children (27 males, 21 females; mean age 6y 7mo, SD 3.9mo; range 6y 1mo to 7y 3mo) born preterm (birthweight <1250g; gestational age <34wks), without major physical or cognitive disabilities, were matched to 69 healthy, term control children (32 males, 37 females; mean age 6y 10mo, SD 3.6mo; range 6y 3mo to 7y 4mo) by sex and school class. All children were assessed using the Evaluation Tool of Children's Handwriting-Manuscript and several sensorimotor measures. Preterm children demonstrated significantly lower legibility and slower speed scores (p<0.01) compared with control children for most of the handwriting tasks. Factors associated with legibility were visual perception and eye–hand coordination (r[les ]0.50; p<0.05) and sex (r[les ]0.12; p=0.01). In-hand manipulation and finger identification (r[les ]0.43; p<0.01) were significantly correlated with slow handwriting speeds. Behaviour difficulties associated with hyperactivity and poor attention (Connors Abbreviated Symptoms Questionnaire) had a confounding influence on both legibility and speed. These findings may help guide early identification efforts and medical/therapeutic interventions for preterm children.

This study investigated mortality and causes of death between 1988 and 1999 in 14781 persons (6702 female) with Down syndrome in California, comparing age, sex, ethnicity, and other factors. Mean age at the start of follow-up was 14 years 8 months (SD 14y 10mo). During the study period 600 persons died. The standardized mortality ratio (SMR) for the population was 5.5. Blacks were at greater risk than whites, Hispanics, or Asians (relative risk=1.5). Mortality declined during the period, especially for children with congenital heart defects. Leukemia (SMR=17), respiratory illnesses (SMR=27), congenital anomalies (SMR=72), and circulatory diseases (SMR=5.3) accounted for most of the excess mortality. With the exception of leukemia, cancer mortality was not different from that of the general population.

The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview – Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.

To test whether the presence of indolyl-3-acryloylglycine (IAG) is associated with autism, we analyzed urine from population-based, blinded cohorts. All children in York, UK with autism spectrum disorders (ASDs), diagnosed using ICD-10 research diagnostic criteria, were invited to participate. Fifty-six children on the autism spectrum (mean age 9y 8mo, SD3y 8mo; 79% male) agreed to participate, as did 155 children without ASDs (mean age 10y, SD3y 2mo; 54% male) in mainstream and special schools (56 of whom were age-, sex-, and school-matched to children with ASDs). IAG was found at similar levels in the urine of all children, whether IAG concentrations or IAG:creatinine ratios were compared. There was no significant difference between the ASD and the comparison group, and no difference between children at mainstream schools and those at special schools. There is no association between presence of IAG in urine and autism; therefore, it is unlikely to be of help either diagnostically or as a basis for recommending therapeutic intervention with dietary manipulation. The significance of the presence of IAG in urine has yet to be determined.

The suggested link between autism and cerebellar dysfunction formed the background for a Swedish clinical study in 2001. Thirty-two children (17 females, 15 males; mean age 12y, SD 3y 10mo; range 6 to 21y) with a clinical suspicion of non-progressive congenital ataxia were examined, and parents were interviewed about the presence of neuropsychiatric problems in the child. Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had ‘borderline’ ataxia. All but one of the 32 children had a mild to moderate gross motor disability according to Gross Motor Function Classification System (15 were categorized as level I, 16 as level II, and one child as level IV). Neuroimaging and neuropsychological testing were achieved in most cases. There was a strong association between learning disability and autism spectrum disorder (often combined with hyperactivity disorder) on the one hand, and both simple and borderline ‘ataxia’ on the other, but a weaker link between ataxic diplegia and neuropsychiatric disorders. A correlation between cerebellar macropathology on neuroimaging and neuropsychiatric disorders was not supported. Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability.

We report on two sisters with a childhood-onset form of predominantly axial dystonia with marked diurnal fluctuations. Onset of clinical features was at approximately 6 years of age. Associated features included marked fatigue, slight facial dysmorphism, short stature, obesity, and learning disability. Dystonia and fatigue responded to 3,4-dihydroxyphenylalanine (DOPA) therapy, with recurrence of symptoms upon withdrawal; the efficacy has been maintained over 7 years. Other symptoms were not influenced. There was no other case in the family (which included an older, healthy brother), except for non-specific fatigue without dystonia in the mother, and there was no significant family history except for obesity on the father's side. These observations are discussed in relation to the classical descriptions of Segawa syndrome, and to more recent reports of childhood onset, age-related, and transient benign paroxysmal tonic upgaze and ataxia. The combination of symptoms, their sensitivity to DOPA, and their persistence throughout childhood constitute, to our knowledge, a new clinical entity, which we propose to categorize as a DOPA-sensitive dystonia-plus syndrome.

In the UK, guidelines on the management of childhood epilepsy have just been published by the National Institute for Clinical Excellence (NICE). These, it is claimed, are evidence based. One definition of evidence-based medicine (EBM) is the conscientious, explicit, and judicious use of current best evidence in making decisions about the care of individual patients. Surely, no one could question that this is a good thing and that it should be the cornerstone of our clinical management of patients with epilepsy. The NICE guidelines contain almost 200 recommendations. In addition, NICE has previously published guidelines on the use of the newer antiepileptic drugs (AEDs) in children and the Cochrane database of systematic reviews includes many on the topic of epilepsy. If there is so much evidence around on which to base our clinical practice, why does it seem that most practitioners involved in the clinical care of children with epilepsy base most of their practice on case reports, anecdotes, and personal experience?

The special importance of acyl-CoA dehydrogenase deficiency is the possibility it offers for successful treatment. In view of this, the characteristics of the different varieties will first of all be described, and references given so that additional information can be obtained if needed.

The last time that the Academy meeting was scheduled to be in California was 2001 and for obvious reasons effectively did not take place. Hence, the Los Angeles venue was interposed for the recent meeting held in September 2004 and we were welcomed to Hollywood in inimitable style.