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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]

Background: Canonical babbling—producing syllables with a mature consonant, full vowel, and smooth transition—is an important developmental milestone that typically occurs in the first year of life. Some studies indicate delayed or reduced canonical babbling in infants at high familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis, but evidence is mixed. More refined characterization of babbling in the first year of life in infants with high likelihood for ASD is needed. Methods: Vocalizations produced at 6 and 12 months by infants (n = 267) taking part in a longitudinal study were coded for canonical and non-canonical syllables. Infants were categorized as low familial likelihood (LL), high familial likelihood diagnosed with ASD at 24 months (HL-ASD) or not diagnosed (HL-Neg). Language delay was assessed based on 24-month expressive and receptive language scores. Canonical babble ratio (CBR) was calculated by dividing the number of canonical syllables by the number of total syllables. Generalized linear (mixed) models were used to assess the relationship between group membership and CBR, controlling for site, sex, and maternal education. Logistic regression was used to assess whether canonical babbling ratios at 6 and 12 months predict 24-month diagnostic outcome. Results: No diagnostic group differences in CBR were detected at 6 months, but HL-ASD infants produced significantly lower CBR than both the HL-Neg and LL groups at 12 months. HL-Neg infants with language delay also showed reduced CBR at 12 months. Neither 6- nor 12-month CBR was significant predictors of 24-month diagnostic outcome (ASD versus no ASD) in logistic regression. Limitations: Small numbers of vocalizations produced by infants at 6 months may limit the reliability of CBR estimates. It is not known if results generalize to infants who are not at high familial likelihood, or infants from more diverse racial and socioeconomic backgrounds. Conclusions: Lower canonical babbling ratios are apparent by the end of the first year of life in ASD regardless of later language delay, but are also observed for infants with later language delay without ASD. Canonical babbling may lack specificity as an early marker when used on its own. [ABSTRACT FROM AUTHOR]

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]

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. [ABSTRACT FROM AUTHOR]

Initiation of joint attention is a critical developmental function related to further social communicative development in infancy. Joint attention appears to be impaired very early in life for children with autism spectrum disorder (ASD), well before a formal diagnosis is established. To observe the early development of joint attention, we prospectively followed infant siblings at high risk for ASD (HR) and low-risk (LR) infants. Initiations of joint attention behaviors were coded with respect to frequency, quality, and variety from videos taken during the administration of the Autism Observation Schedule for Infants. Participants were further stratified based on the presence of ASD (n = 17) or language delay (n = 19) at 3 years of age. Our results revealed that initiations of joint attention are impaired from 12 months of age in both children with ASD and those with language delay, especially for use of gestures (i.e., showing and pointing). At 18 months, fewer initiations of joint attention in all three dimensions distinguished infants with ASD, compared to infants with language delay and HR and LR infants without a diagnosis. Beyond the definition of initiation of joint attention as an early sign for ASD, clinical implications of these results concern the importance of intervening on frequency, quality, and variety of joint attention as early as possible in infants at heightened risk for ASD. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background Families with a child diagnosed with autism spectrum disorder (ASD) often utilize a variety of professional services. The provision of these services has many potential benefits for families; however, these services also place demands on parents, particularly mothers, to access, navigate and participate. Little is known about how involvement with these services and service systems influences the psychological wellbeing of mothers of children diagnosed with ASD. We examined the relationship between professional services and psychological wellbeing for mothers of children diagnosed with ASD. Methods Mothers (n = 119) of children (mean child age 10.1 years; range 2-24 years) diagnosed with ASD anonymously completed a comprehensive survey. The survey included data related to maternal psychological wellbeing, professional services received and perceptions of these services, and child, mother and household characteristics. Results Regression analyses revealed that maternal psychological wellbeing was positively associated with the perceived continuity of services, and negatively associated with the number of professionals involved. Child and maternal age, and household income were also statistically significant predictors of maternal psychological wellbeing. Conclusions The study findings draw attention to the potentially negative impact of systems-level challenges, especially fragmentation of services, on maternal psychological wellbeing, despite positive front-line services. In particular, our data suggest that psychological wellbeing among mothers of children with ASD may vary more as a function of service system variables than practitioner-level or child-level variables. [ABSTRACT FROM AUTHOR]

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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. [ABSTRACT FROM AUTHOR]

Background Much is known about the hardships associated with parenting a child with a disability, but few studies have examined the broader contributions of the child to family life or society. Methods The study involved qualitative analysis of interviews with 16 families of children with autism spectrum disorder or Down syndrome at critical transition periods (entry to elementary or high school), targeting their perceptions of benefits. Results Parents discussed a wide range of benefits beyond the personal level, including parental, family and societal benefits. Exploratory group comparisons indicated that parents of high school-aged children were more likely to mention family-level and societal benefits. Conclusions The findings suggest that raising a child with a disability can trigger role-related decisions that lead to a series of resiliency-related processes and cascading benefits. The findings inform practitioners about the nature of potential positive experiences that can be shared with families starting out on their journey, allowing parents to recognize the positive dimensions of raising a child with a disability in addition to the hardships. [ABSTRACT FROM AUTHOR]

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]

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]

Background There have been few reports of the world views, values and priorities of families of children with autism or Down syndrome, despite the fact that family belief systems are considered to be among the most important factors affecting the adaptation and resilience of families. Methods Transcripts from three focus groups involving 19 key informants (15 parents of children with autism or Down syndrome, and 4 service providers) were analysed using qualitative methods. Results The themes indicated that raising a child with a disability can be a life-changing experience that spurs families to examine their belief systems. Parents can come to gain a sense of coherence and control through changes in their world views, values and priorities that involve different ways of thinking about their child, their parenting role, and the role of the family. Although parents may grapple with lost dreams, over time positive adaptations can occur in the form of changed world views concerning life and disability, and an appreciation of the positive contributions made by children to family members and society as a whole. Parents’ experiences indicate the importance of hope and of seeing possibilities that lie ahead. Conclusions The information from this study may be used to provide families with an advance understanding of the changes in beliefs that they might undergo, and assists service providers in providing individualized and family-centred services and supports to families. [ABSTRACT FROM AUTHOR]

Poor attention and motor restlessness are common in Williams syndrome (WS) children, and attention deficit hyperactivity disorder (ADHD) is at least as prevalent in WS as in other mentally handicapped groups. We determined the effectiveness of methylphenidate in two children with WS and ADHD. Each child underwent a double-blind dose-determining assessment to select the optimum dose for “N of 1” trials, which consisted of single subject, placebo-controlled randomized controlled trials with multiple crossovers. A regimen of 5 mg in the morning and 2.5 mg at noon was determined by consensus for both trials. Response to MPH was assessed using parent and teacher Conners ratings, and analyzed separately for each child, using mixed model ANOVA. No significant differences in behavioral ratings between medication and placebo weeks were found during the “N of 1 trials.” We conclude that methylphenidate was not superior to placebo in decreasing ADHD symptoms in these two children with Williams syndrome. [ABSTRACT FROM AUTHOR]

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 behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(l0) 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. [ABSTRACT FROM AUTHOR]

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 perva- sive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter->10p12.32::8p12−>8qter), der(10)(8pter->8p21.3::10p12.32−>10p11.23::8 p21.3−> 8p12::10p11.23−>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. [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]

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]

Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or disorder and uses the methods of both medical genetics and clinical epidemiology. In general, genetic epidemiology tries to answer the following four questions: Is the disorder inherited; What phenotype is inherited; How is it inherited or what is the mode of transmission; and What is the nature of the genetic mutation, if any, that gives rise to the disorder? The hope is that by identifying the gene or genes involved in pathophysiology, a much better understanding of the steps from gene product to phenotype will be possible, leading to improvements in diagnosis, an opportunity for thoughtful family planning, and perhaps, most important, to the development of treatments based on an understanding of the biochemistry of the disorder. We review the current knowledge of the genetic epidemiology of autism and the other pervasive developmental disorders (PDDs) and highlight promising new directions. There seems to be widespread agreement that the PDDs are caused, at least in part, by genetic factors. There is also some agreement on the phenotypic boundaries associated with these same genetic factors. However, many points of uncertainty remain, and several methodologic issues need to be resolved before further progress in mapping susceptibility genes is possible. We do not specifically review molecular studies, medical conditions associated with autism, or the broader autism phenotype, as these topics are covered in other papers in this special issue. [ABSTRACT FROM AUTHOR]

Background: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. Methods: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. Results: Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. Conclusions: Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms. [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]