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Preschool children with autism spectrum disorder (ASD) experience slower development of daily living skills (DLS) that are essential for independent functioning compared to typically developing children. Few studies have examined the trajectories of DLS in preschoolers with ASD and the existing literature has reported conflicting results. This study examined DLS trajectories and potential covariates for preschoolers with ASD from a multi-site longitudinal study following children from diagnosis to the end of grade 1. Multi-level modeling was conducted with DLS domain scores from the Vineland Adaptive Behavior Scales-2. The results demonstrated a positive trajectory of increasing scores over time, associations of age of diagnosis, developmental level, stereotypy, and language skills with the mean score at T4 or age 6 years, whereas rate of change was only associated with ASD symptom severity, such that an improvement in DLS trajectory was associated with lower and improving ASD symptom severity.

The present study investigated the relationship between infant temperament characteristics and autism spectrum disorder (ASD) risk status. Temperament was examined at 6, 12, and 24 months in 282 infants at high familial risk for ASD and 114 low-risk controls using the Infant Behavior Questionnaire-Revised and Early Childhood Behavior Questionnaire. Infants were divided into three groups at 24 months: High-Risk Positive--classified as ASD (HR Pos), High-Risk Negative (HR Neg), and Low-Risk Negative (LR Neg). At 6 and 12 months HR Pos infants exhibited lower Surgency and Regulatory Capacity than LR Neg infants. By 12 months they also demonstrated increased Negative Affect. Group differences remained, when early signs of ASD were controlled for, suggesting that temperament differences could be useful targets for understanding the development of ASD.

Early communication impairment is among the most-reported first concerns in parents of young children with autism spectrum disorder (ASD). Using a parent-report questionnaire, we derived trajectory groups for early language and gesture acquisition in siblings at high risk for ASD and in children at low risk, during their first 2 years of life. Developmental skills at 6 months were associated with trajectory group membership representing growth in receptive language and gestures. Behavioral symptoms also predicted gesture development. All communication measures were strongly related to clinical and developmental outcomes. Trajectory groups further indicated slowest language/gesture acquisition in infants with later ASD diagnoses, in particular when associated with language delay. Overall, our results confirm considerable variability in communication development in high-risk infants.

Background: Mental health problems are elevated in autistic individuals but there is limited evidence on the developmental course of problems across childhood. We compare the level and growth of anxious-depressed, behavioral and attention problems in an autistic and typically developing (TD) cohort. Methods: Latent growth curve models were applied to repeated parent-report Child Behavior Checklist data from age 2–10 years in an inception cohort of autistic children (Pathways, N = 397; 84% boys) and a general population TD cohort (Wirral Child Health and Development Study; WCHADS; N = 884, 49% boys). Percentile plots were generated to quantify the differences between autistic and TD children. Results: Autistic children showed elevated levels of mental health problems, but this was substantially reduced by accounting for IQ and sex differences between the autistic and TD samples. There was small differences in growth patterns; anxious-depressed problems were particularly elevated at preschool and attention problems at late childhood. Higher family income predicted lower base-level on all three dimensions, but steeper increase of anxious-depressed problems. Higher IQ predicted lower level of attention problems and faster decline over childhood. Female sex predicted higher level of anxious-depressed and faster decline in behavioral problems. Social-affect autism symptom severity predicted elevated level of attention problems. Autistic girls' problems were particularly elevated relative to their same-sex non-autistic peers. Conclusions: Autistic children, and especially girls, show elevated mental health problems compared to TD children and there are some differences in predictors. Assessment of mental health should be integrated into clinical practice for autistic children. [ABSTRACT FROM AUTHOR]

Children with autism spectrum disorder (ASD) and structural language impairment (LI) may be at risk of more adverse social-developmental outcomes. We examined trajectories of early social competence (using the Vineland-II) in 330 children aged 2-4 years recently diagnosed with ASD, and compared 3 subgroups classified by: language impairment (ASD/LI); intellectual disability (ASD/ID) and ASD without LI or ID (ASD/alone). Children with ASD/LI were significantly more socially impaired at baseline than the ASD/alone subgroup, and less impaired than those with ASD/ID. Growth in social competence was significantly slower for the ASD/ID group. Many preschool-aged children with ASD/LI at time of diagnosis resembled "late talkers" who appeared to catch up linguistically. Children with ASD/ID were more severely impaired and continued to lag further behind.

We report a 4-year-old girl with a "de novo", apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus, and joint laxity. She is developmentally delayed, with language and cognitive skills approximately 2 SD below the mean expected for her age, and meets ADI, ADOS, and DSM-IV criteria for pervasive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviors and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter-greater than 10p12.32::8p12-greater than 8qter), der(10)(8pter-greater than 8p21.3::10p12.32-greater than 10p11.23::8 p21.3-greater than 8p12::10p11.23-greater than 10qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(10) has two 8p segments collectively from 8p12-pter in that the segment 8p21.3-pter is translocated onto 10p12.32 and the segment 8p12-p21.3 is inserted at 10p11.23. FISH analysis showed no microdeletion of the major locus at 22q11.2 nor for the minor locus at 10p13p14. This case suggests that aberrations at 8p12, 8p21.3, 10p11.23 and/or 10p12.32 may result in pervasive developmental disorder, associated with mild cognitive delay and specific facial anomalies.

This case report describes the presence of autism and Childhood Disintegrative Disorder (CDD) cosegregating within a sibship of half-brothers with the same mother. The report suggests that the rarity of the two conditions suggests a shared transmissible mechanism. (Contains references.) (Author/DB)

Background: Restricted and repetitive behavior (RRB) is one of the characteristic features of Autism Spectrum Disorder. This domain of symptoms includes a broad range of behaviors. There is a need to study each behavior individually to better understand the role of each in the development of autistic children. Moreover, there are currently no longitudinal studies investigating change in these behaviors over development. Methods: The goal of the present study was to explore the association between age and non-verbal IQ (NVIQ) on 15 RRB symptoms included in the Autism Diagnostic Interview-Revised (ADI-R) over time. A total of 205 children with ASD were assessed using the ADI-R at time of diagnosis, at age 6 years, and at age 11 years, and with the Wechsler Intelligence Scales for Children—Fourth Edition (WISC-IV) at age 8 years. Results: The proportion of children showing each RRB tended to diminish with increasing age, except for sensitivity to noise and circumscribed interests, where the proportion increased over time. Although there was no significant main effect of NVIQ, there was a significant interaction between age and NVIQ. This was mainly driven by Difficulties with change in routine, for which higher NVIQ was associated with the behavior remaining relatively stable with age, while lower NVIQ was associated with the behavior becoming more prevalent with age. Limitations: The study focused on the presence/absence of each RRB but did not account for potential changes in frequency or severity of the behaviors over development. Furthermore, some limitations are inherent to the measures used. The ADI-R relies on parent report and hence has some level of subjectivity, while the Wechsler intelligence scales can underestimate the intellectual abilities of some autistic children. Conclusions: These results confirm that specific RRB are differentially linked to age and NVIQ. Studying RRB individually is a promising approach to better understanding how RRB change over the development of autistic children and are linked to other developmental domains. [ABSTRACT FROM AUTHOR]

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Objective: Evidence from prospective studies of high-risk infants suggests that early symptoms of autism usually emerge late in the first or early in the second year of life after a period of relatively typical development. The authors prospectively examined white matter fiber tract organization from 6 to 24 months in high-risk infants who developed autism spectrum disorders (ASDs) by 24 months.Method: The participants were 92 high-risk infant siblings from an ongoing imaging study of autism. All participants had diffusion tensor imaging at 6 months and behavioral assessments at 24 months; a majority contributed additional imaging data at 12 and/or 24 months. At 24 months, 28 infants met criteria for ASDs and 64 infants did not. Microstructural properties of white matter fiber tracts reported to be associated with ASDs or related behaviors were characterized by fractional anisotropy and radial and axial diffusivity.Results: The fractional anisotropy trajectories for 12 of 15 fiber tracts differed significantly between the infants who developed ASDs and those who did not. Development for most fiber tracts in the infants with ASDs was characterized by higher fractional anisotropy values at 6 months followed by slower change over time relative to infants without ASDs. Thus, by 24 months of age, those with ASDs had lower values.Conclusions: These results suggest that aberrant development of white matter pathways may precede the manifestation of autistic symptoms in the first year of life. Longitudinal data are critical to characterizing the dynamic age-related brain and behavior changes underlying this neurodevelopmental disorder. [ABSTRACT FROM AUTHOR]

Earlier intervention improves outcomes for children with autism spectrum disorders (ASDs), but existing identification tools are at the limits of standardization with 18-month-olds. We assessed potential behavioural markers of ASD at 18 months in a high-risk cohort of infant siblings of children with ASD. Prospective data were collected using the Autism Diagnostic Observation Schedule (ADOS) and Autism Observation Scale for Infants (AOSI) on 155 infant siblings and 73 low-risk controls at 18 months. Infants were classified into three groups (ASD sibs, non-ASD sibs, controls) based on blind best-estimate diagnosis at age 3. Fisher's exact tests, followed by discriminant function analyses, revealed that the majority of informative ADOS items came from the social and behavioural domains, and AOSI items measuring behavioural reactivity and motor control contributed additional information. Findings highlight the importance of considering not only social-communication deficits, but also basic dimensions of temperament including state regulation and motor control when assessing toddlers with suspected ASD. [ABSTRACT FROM AUTHOR]

The Fifth Edition of the Stanford-Binet Intelligence Scales (SB5; Roid, G. H. (2003). Stanford Binet intelligence scales (5th ed.). Itasca, IL: Riverside Publishing) is relatively new, with minimal published research on general populations and none with special populations. The present study provides information on the cognitive profiles of children with ASD (N = 63) and on the whether the abbreviated battery is representative of the full scale. A high percentage of the children had significantly stronger nonverbal (vs. verbal) skills. This pattern was not related to Full Scale IQ, age or diagnostic subgroup. IQs derived from the abbreviated battery accounted for a large proportion of the variance in FSIQ relative to comparable abbreviated batteries. However, caution is warranted when using the abbreviated battery, as it misrepresents actual ability in a small percentage of cases. [ABSTRACT FROM AUTHOR]

The objective of this review is to clarify the role of matching in family genetic studies of autism as a way of defining endophenotypes for linkage analysis. The concept of a confounding variable is reviewed and the importance of considering these in family studies of three endophenotypes in autism are considered: cognitive/language impairments, psychiatric disorders, and autistic-like traits. The importance of matching in infant sibling studies of autism is also addressed. Matching as a way of dealing with confounding variables has an important impact on understanding the extent to which these phenotypes are associated with the genes that confer susceptibility to autism and to the early detection of the disorder. Matching continues to be an important issue in the planning and conduct of family-genetic studies of the autism spectrum disorders, particularly as the search for autism susceptibility genes enters the next generation of studies. [ABSTRACT FROM AUTHOR]

We report two children who were referred for diagnostic assessment for autism and were subsequently determined to have a muscular dystrophy (MD). Each child had a history of speech delay and social impairments, but also had motor delays that had not previously been investigated. Both children met diagnostic criteria for autism spectrum disorders on standardized assessment. Each child was hypotonic and had other mild motor impairments. Serum creatine kinase (CK) activity was markedly elevated in each child, and subsequent muscle biopsy led to diagnosis of Becker's MD and congenital (autosomal recessive) MD, respectively. These cases highlight the importance of a thorough neuromotor examination for all children with suspected autism spectrum disorders. [ABSTRACT FROM AUTHOR]

This study prospectively compared the 2-year outcome of children diagnosed with autism or Asperger syndrome at age 6-8 years in terms of symptoms from the Autism Diagnostic Interview. Significant differences were seen in the three-domain summary scores of social interaction, communication, and repetitive activities, with the Asperger syndrome group demonstrating fewer and/or less severe symptoms at both times. There was a trend for the trajectories to come together over time on the socialization and communication domains, but not the repetitive activities domain. Differences were not attributable to IQ. Analysis of individual items indicated that the autism group improved over time on seven items and showed increased symptom severity on three items. On the other hand, the Asperger syndrome group improved on only two items and showed increased symptom severity on six items. Results suggest that the two PDD subtypes represent similar developmental trajectories, although the Asperger syndrome group maintains its advantage. Educational and clinical implications of the results are discussed. [ABSTRACT FROM AUTHOR]

QUESTIONWhat are the prevalence and risk factors of early autistic features in young children who had very low birth weights?METHODSDesign: inception cohort of preterm infants followed up to 18-24 months of age adjusted for prematurity.Setting: {a hospital in Boston, Massachusetts, USA}.*Patients: consecutive series of 103 preterm infants with birth weights <1500 g (median gestational age 26 wks, 60% boys, median birth weight 890 g). Exclusion criteria were known or suspected cerebral dysgenesis, dysmorphic syndromes, or chromosomal disorders. 8 infants died, and 4 were lost to follow-up.Prognostic factors: maternal age and temperature, acute intrapartum or antepartum haemorrhage, preterm labour, placental infection, gestational age at birth, birth weight, sex, admission Score of Neonatal Acute Physiology II (SNAP-II), duration of oxygen requirement, and abnormal magnetic resonance imaging studies.Outcomes: included positive screening for early autistic features (failure on >/= 2 critical items or any 3 items on 23-item Modified Checklist for Autism in Toddlers [M-CHAT] ), externalising and internalising behaviour problems (T scores >/= 60 on Child Behavior Checklist), and functional delays (<2 standard deviations of normative mean on Vineland Adaptive Behavior Scale).MAIN RESULTSAt a mean corrected age of 22 months, 25% of 91 children had a positive screen for early autistic features, 29% had problems with internalising behaviours and 13% with externalising behaviours, and 19-9% had functional difficulties. Multivariate analysis identified predictors of early autistic features (table).CONCLUSIONS25% of preterm infants with very low birth weights had positive autism screening scores at a mean corrected age of 22 months. Male sex, chorioamnionitis, gestational age, lower birth weight, and illness severity predicted positive autism screening scores.*Information provided by author. [ABSTRACT FROM AUTHOR]

How accurate is the Screening Tool for Autism in Two Year Olds (STAT) for identifying children at risk of autism?METHODSDesign: Diagnostic cohort study.Setting: University based diagnostic evaluation centre and affiliated speech and hearing centre, Tennessee, USA; 1997 to 2001.Patients: Initial validation of the STAT was carried out in 13 matched pairs of children aged 24--35 months, with a diagnosis of autism or alternatively developmental delay, language impairment, or both (DD/LI), and without severe sensory or motor impairment. Further validation was carried out in a sample of 104 children selected on the basis of parental report of developmental concerns.Test: The STAT consists of 12 interactive items assessing different behavioural domains, including play, requesting, directing attention, and motor imitation. The test was administered by trained examiners who were blinded to the children's diagnoses. Overall score ranges from 0 to 4, with lower scores indicating less impairment. The threshold for classification of being at 'high risk' of autism was a score of 2 or above, based on initial calibration in 26 children with autism or DD/LI.Diagnostic standard: DSM-IV or DSM-IV-TR criteria were used to diagnose autism. In the second validation sample the AutismDiagnostic Observation Schedule-Generic (ADDS-G) was also used. Diagnostic evaluation was carried out by a multidisciplinary team including a psychologist and a speech/language pathologist, who were blind to the STAT result in the initial study but not in the second study.Outcomes: Sensitivity and specificity, positive and negative predictive value, false positive and Use negative rate.MAIN RESULTSIn the initial validation sample consisting of children with autism or DD/LI, the STAT yielded a sensitivity of 0.92, a specificity of 0.85, a positive predictive value of 0.86, and a negative predictive value of 0.92 compared with DSM-IV diagnoses. In the second, larger validation sample, the STAT performed well at distinguishing between the ADOS-G classifications of autism and non-autistic spectrum. However, it was less accurate at distinguishing autism from pervasive developmental disorder not otherwise specified (see http://www.ebmentalhealth.com/supplemental for table).CONCLUSIONSAlthough the STAT has a high sensitivity and specificity in populations of children with autism or non-autistic spectrum disorders, it is less accurate at distinguishing children with autism from those with pervasive developmental disorder not otherwise specified.NOTESThe STAT is intended to be used in a population of children already identified as having developmental problems. It was therefore calibrated in this study in a select population consisting only of children with autism or developmental delay/language impairment. The test's value is limited by its apparent lack of specificity in a more mixed population. However, if it is used as a screening test, rather than for definitive diagnoses, this may not be a serious flaw. The test's performance in the second sample may have been falsely enhanced because the result was known to those making the clinical diagnoses. [ABSTRACT FROM AUTHOR]

QUESTION: What evidence supports practice parameters for the surveillance, screening, and diagnosis of children with autism?Data sourcesA panel of experts in autism was convened Studies in all languages were identified by searching Medline and PsycINFO using the terms autistic, autism, and pervasive; books recommended by members of the panel were also reviewed.Study selectionStudies were selected if they were published since 1990, were review papers or meta-analyses developed for DSM/IV, or were included in the overview of the National Institutes of Health State of the Science Conference on Autism in 1995.Data extractionStudies were assessed for the strength of their evidence: Class I: prospective studies with a description of the study population, inclusion and exclusion criteria specified, adequate sample size; interpretations of evaluations done blinded to outcome; and a satisfactory description of the technology used for the evaluations. Class II: retrospective studies which otherwise met the criteria for class I but (lid not require blinding. Class III: small cohort or case report studies; or relevant expert opinion, consensus, or survey papers. Recommendations were stratified based on the strength of evidence and called 'standards' (high degree of clinical certainty based on Class I studies or overwhelming Class II evidence), 'guidelines' (moderate clinical certainty based on >/= 1 Class II study or a strong consensus of Class III evidence), or 'practice options' (uncertain clinical utility based on inconclusive evidence or opinion).Main results2750 studies met the inclusion criteria. 7 practice recommendations were made for routine developmental surveillance and screening of autism with the strength of evidence of a guideline: developmental surveillance should be done at all well child visits from infancy to school age; recommended screening tools include the Ages and Stages Questionnaire, the BRIGANCE Screens, the Child Development Inventories, and the Parents' Evaluations of Developmental Status; because of lack of sensitivity and specificity, the Denver-II and Revised Denver Pre-Screening Developmental Questionnaire are not recommended; more intensive evaluation is required if children fail to meet developmental milestones; siblings of children with autism should be carefully monitored; screening specifically for autism should be done on all children who fail routine developmental surveillance procedures; audiological assessments and lead screening are recommended for children with developmental delay or autism.6 practice recommendations were made for diagnosis and evaluation; 2 had the strength of evidence of a standard: genetic testing in children with autism should be done in the presence of dysmorphic features or mental retardation, or a family history of Fragile X syndrome or undiagnosed mental retardation; metabolic testing should be done in the presence of such findings as lethargy, cyclic vomiting, early seizures, dysmorphic features, evidence of mental retardation, or questionable adequacy of newborn screening.Conclusions7 practice recommendations for routine developmental surveillance and screening of autism are based on fair evidence. 2 practice recommendations for genetic and metabolic testing in subgroups of children with autism are based on strong evidence. [ABSTRACT FROM AUTHOR]

Childhood Disintegrative Disorder (CDD) is grouped with autism as a subtype of Pervasive Developmental Disorder (PDD) in ICD-10 and DSM-IV. This is the first report of autism and CDD cosegregating within a sibship. J. P. and M. P. are half-brothers with the same mother. J. P. is an 18-year-old with impairments in communication, social reciprocity, and stereotypies and was diagnosed with autism. M. P. is a 7-year-old who developed normally to 2 years 4 months. He then underwent a profound regression, becoming nonverbal and socially withdrawn, and lost adaptive skills. Investigations did not reveal any neurodegenerative process. M. P. was diagnosed with CDD. The rarity of the two conditions suggests a shared transmissible mechanism. The implications for autism/PDD genetic studies are discussed. [ABSTRACT FROM AUTHOR]