Marian Sigman

Child-mother attachment, as observed in the Strange Situation (SSP), was assessed in 61 families affected by HIV and 18 neighborhood comparison families not affected by HIV, but of similar ethnicity and socioeconomic status. Children were aged one to three years at the assessment. Secure attachment was significantly less likely among children in the HIV-affected group than among comparison group children (36% versus 67%). The most common pattern of attachment in the HIV-affected group was disorganized/disoriented, observed in 41% of children (versus 22% of comparison children). Children from families that included a surviving grandparent with HIV showed disorganized attachments more often than children whose grandparents died (53% versus 36%). Child attachment classifications were not associated with families' participation in a family-based, cognitive-behavioral HIV intervention. These results document the inter-generational impact of young mothers' who were growing up with an HIV-infected parent. These findings suggest that families affected by HIV may benefit from interventions that address attachment issues.

Background: Individuals with Autism Spectrum Disorders (ASD) typically show impaired eye contact during social interactions. From a young age, they look less at faces than typically developing (TD) children and tend to avoid direct gaze. However, the reason for this behavior remains controversial; ASD children might avoid eye contact because they perceive the eyes as aversive or because they do not find social engagement through mutual gaze rewarding.Methods: We monitored pupillary diameter as a measure of autonomic response in children with ASD (n = 20, mean age = 12.4) and TD controls (n = 18, mean age = 13.7) while they looked at faces displaying different emotions. Each face displayed happy, fearful, angry or neutral emotions with the gaze either directed to or averted from the subjects.Results: Overall, children with ASD and TD controls showed similar pupillary responses; however, they differed significantly in their sensitivity to gaze direction for happy faces. Specifically, pupillary diameter increased among TD children when viewing happy faces with direct gaze as compared to those with averted gaze, whereas children with ASD did not show such sensitivity to gaze direction. We found no group differences in fixation that could explain the differential pupillary responses. There was no effect of gaze direction on pupil diameter for negative affect or neutral faces among either the TD or ASD group.Conclusions: We interpret the increased pupillary diameter to happy faces with direct gaze in TD children to reflect the intrinsic reward value of a smiling face looking directly at an individual. The lack of this effect in children with ASD is consistent with the hypothesis that individuals with ASD may have reduced sensitivity to the reward value of social stimuli.

We observed infant siblings of children with autism later diagnosed with ASD (ASD siblings; n = 17), infant siblings of children with autism with and without other delays (Other Delays and No Delays siblings; n = 12 and n = 19, respectively) and typically developing controls (TD controls; n = 19) during a free-play task at 18 months of age. Functional, symbolic, and repeated play actions were coded. ASD siblings showed fewer functional and more non-functional repeated play behaviors than TD controls. Other Delays and No Delays siblings showed more non-functional repeated play than TD controls. Group differences disappeared with the inclusion of verbal mental age. Play as an early indicator of autism and its relationship to the broader autism phenotype is discussed.

Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.

Background: Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders[1]. The duplications most often take the form of a supernumerary pseudodicentric derivative chromosome 15 [der(15)] that has been called inverted duplication 15 or isodicentric 15 [idic(15)], although interstitial rearrangements also occur. Similar to the deletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be mediated by unequal homologous recombination involving low copy repeats (LCR) that are found clustered in the region. Five recurrent breakpoints have been described in most cases of segmental aneuploidy of chromosome 15q11-q13 and previous studies have shown that most idic(15) chromosomes arise through BP3:BP3 or BP4:BP5 recombination events. Results: Here we describe four duplication chromosomes that show evidence of atypical recombination events that involve regions outside the common breakpoints. Additionally, in one patient with a mosaic complex der(15), we examined homologous pairing of chromosome 15q11-q13 alleles by FISH in a region of frontal cortex, which identified mosaicism in this tissue and also demonstrated pairing of the signals from the der(15) and the normal homologues. Conclusion: Involvement of atypical BP in the generation of idic(15) chromosomes can lead to considerable structural heterogeneity.

In this review of the research literature on autism, we argue that the application of developmental and neuropsychological perspectives has contributed importantly to the understanding of the core deficits in autism and their underlying neural bases. The three classes of theories postulated to explain the developmental and neuropsychological deficits in autism are considered in terms of the specificity, uniqueness, and universality of these impairments in autism. Because we believe that a primary reason for our lack of understanding of the developmental trajectory in autism stems from our inability to diagnose the syndrome in the first three years of life, research approaches to early identification are discussed, as are longitudinal studies aimed at identifying later-life outcomes and their predictors. In contrast to the progress made in defining the core deficits and arriving at criteria for diagnosis, less progress has been made in identifying the causes of autism and in creating and testing interventions aimed at ameliorating the impairments of autism, possibly because these activities have been less tied to the developmental and neuropsychological models that have enlightened the investigation of core deficits.

The present study examined the effects of a school breakfast program on the activity level, emotional state, and social interactions of a group of Kenyan schoolchildren on the playground. Five hundred forty children in rural Kenya participated in the study. The first standard (grade) classes were randomly assigned to groups provided for 21 months with school breakfasts of equivalent caloric value while families with children in the control group were given a goat at the end of the study. The study aimed to determine whether enhanced caloric intake or diet quality influenced the children's behavior on the school playground. The results indicate that supplemented children were more active and showed more leadership behavior and initiative than did non-supplemented children. In addition, children given meat showed fewer periods of low activity and more leadership behaviors and initiative than did children provided entirely with vegetable source foods. These results support our previous findings from naturalistic studies in the same community that both diet quantity and quality are important for children's development.

Background:  This longitudinal study of 48 children diagnosed with autism at 2–5 years of age was designed to test the hypothesis that diagnosis would remain stable for most of the sample but that there would be improvements in symptom severity, adaptive behavior, and emotional responsiveness in adolescence. Methods:  A sample of children with autism assessed in both early and middle childhood were observed in late adolescence with the Autism Diagnostic Observation Scale (ADOS) and their parents were administered the Autism Diagnostic Interview‐Revised (ADI‐R) and the Vineland Adaptive Behavior Scale. Results:  All but 2 adolescents (46 of 48) met lifetime criteria for autism according to the ADI‐R, and all but 4 adolescents (40 of 44) met criteria for autism spectrum disorder on the ADOS. In contrast to the continuity in diagnosis, parents described improvements in social interactions, repetitive/stereotyped behaviors, adaptive behaviors, and emotional responsiveness to others’ distress in adolescence compared to middle childhood. High‐functioning adolescents with autism showed more improvement in these domains than low‐functioning adolescents with autism. The extent to which the adolescents were observed to be socially engaged with their peers in school in middle childhood predicted adaptive behavior skills even when intelligence level was statistically constrained. Conclusions:  The developmental trajectory of children with autism appears to show both continuity and change. In this sample, most individuals continued to be diagnosed in the autism spectrum but parents reported improvements in adolescence. The results suggest that social involvement with peers improves adaptive behavior skills, and this argues for focusing intervention programs in this area. In addition, it is clear that high‐functioning adolescents improve more than low‐functioning individuals not only in cognitive abilities but also in social interaction skills. Thus, any early intervention that impacts the cognitive abilities of young children with autism is likely to have a parallel influence on their social skills as they mature into late adolescence and early adulthood.

This paper reports on the developmental progression of a sample of 48 adolescents and young adults with autism who were previously assessed at preschool age and again in the mid-school period. In contrast to the earlier period when about one-third of the children made dramatic gains, cognitive and language skills tended to remain stable or decline over this time span. The gain in mental and language age of the non-retarded adolescents with autism was less than half the change in their chronological age. The mentally retarded adolescents with autism showed some gain in mental age over time but this was far less than their change in chronological age, and they showed almost no gain in language age. Early childhood predictors of language skills in adolescence were functional play skills, responsiveness to others’ bids for joint attention, and the frequency of requesting behaviors.

The goal of this review of the research literature is to discuss approaches to the early detection of autism in infancy. Early detection would enable diagnoses to be made before 18 months of age rather than at 24–30 months, the age where diagnoses start to be made now. After summarizing the criteria for a deficit to be considered “core” to the disorder, the literature on research strategies used in early detection is examined. In order to guide the design of future studies, the review then turns to an overview of what is known about the processes of early social development in typically developing children that underlie the domains in which core deficits are manifested in young children with autism. The social domains covered in the review are those that show development in typically developing infants below 18 months of age: dyadic interaction and imitation; emotion discrimination; and attachment. The review concludes that all of these areas are worthy of investigation in young children, particularly those at higher risk of showing some of the core deficits of autism such as the infant siblings of children with autism. © 2004 Wiley‐Liss, Inc. MRDD Research Reviews 2004;10:221–233.