High cognitive sensitivity to activational effects of testosterone in parents of offspring with autism spectrum disorders

The existence of mild forms of autistic-like characteristics in parents of children with autism spectrum disorders (ASDs) has been defined as a broader autistic phenotype (BAP). Excessive prenatal exposure to testosterone (T) seems to play a role in its development. The aims of this study were to characterize whether ASD parents show masculinized brains or high T prenatal exposure compared to a normative population, using cognitive questionnaires, and also to examine the T level changes in response to different cognitive tasks. ASD parents were found to present higher autistic and lower empathic trait scores than controls. They also have higher T levels and magnitude of T response to cognitive tasks. Specific correlation patterns between masculinized brain types and T levels were observed only in ASD parents. Thus, it seems that first-degree relatives of people with ASD have high T levels during task performance, which, in turn, produce slight cognitive masculinization. Our findings should be considered for understanding the role of androgens in the etiology of ASD. Nevertheless, the masculinization parameters described throughout the study are subtle and require further analysis.     

Advancing paternal age and simplex autism

De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers' offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors.     

Neural processing of intentional biological motion in unaffected siblings of children with autism spectrum disorder: An fMRI study

Despite often showing behaviorally typical levels of social cognitive ability, unaffected siblings of children with autism spectrum disorder have been found to show similar functional and morphological deficits within brain regions associated with social processing. They have also been reported to show increased activation to biological motion in these same regions, such as the posterior superior temporal sulcus (pSTS), relative to both children with autism and control children. It has been suggested that this increased activation may represent a compensatory reorganization of these regions as a result of the highly heritable genetic influence of autism. However, the response patterns of unaffected siblings in the domain of action perception are unstudied, and the phenomenon of compensatory activation has not yet been replicated. The present study used functional magnetic resonance imaging to determine the neural responses to intentional biological actions in 22 siblings of children with autism and 22 matched controls. The presented actions were either congruent or incongruent with the actor’s emotional cue. Prior studies reported that typically developing children and adults, but not children with autism, show increased activation to incongruent actions (relative to congruent), within the pSTS and dorsolateral prefrontal cortex. We report that unaffected siblings did not show a compensatory response, or a preference for incongruent over congruent trials, in any brain region. Moreover, interaction analyses revealed a sub-region of the pSTS in which control children showed an incongruency preference to a significantly greater degree than siblings, which suggests a localized deficit in siblings. A sample of children with autism also did not show differential activation in the pSTS, providing further evidence that it is an area of selective disruption in children with autism and siblings. While reduced activation to both conditions was unique to the autism sample, lack of differentiation to incongruent and congruent intentional actions was common to both children with ASD and unaffected siblings.     

Neural processing of intentional biological motion in unaffected siblings of children with autism spectrum disorder: An fMRI study

Despite often showing behaviorally typical levels of social cognitive ability, unaffected siblings of children with autism spectrum disorder have been found to show similar functional and morphological deficits within brain regions associated with social processing. They have also been reported to show increased activation to biological motion in these same regions, such as the posterior superior temporal sulcus (pSTS), relative to both children with autism and control children. It has been suggested that this increased activation may represent a compensatory reorganization of these regions as a result of the highly heritable genetic influence of autism. However, the response patterns of unaffected siblings in the domain of action perception are unstudied, and the phenomenon of compensatory activation has not yet been replicated. The present study used functional magnetic resonance imaging to determine the neural responses to intentional biological actions in 22 siblings of children with autism and 22 matched controls. The presented actions were either congruent or incongruent with the actor’s emotional cue. Prior studies reported that typically developing children and adults, but not children with autism, show increased activation to incongruent actions (relative to congruent), within the pSTS and dorsolateral prefrontal cortex. We report that unaffected siblings did not show a compensatory response, or a preference for incongruent over congruent trials, in any brain region. Moreover, interaction analyses revealed a sub-region of the pSTS in which control children showed an incongruency preference to a significantly greater degree than siblings, which suggests a localized deficit in siblings. A sample of children with autism also did not show differential activation in the pSTS, providing further evidence that it is an area of selective disruption in children with autism and siblings. While reduced activation to both conditions was unique to the autism sample, lack of differentiation to incongruent and congruent intentional actions was common to both children with ASD and unaffected siblings.     

Enhanced ERPs to visual stimuli in unaffected male siblings of ASD children

Autism spectrum disorders are characterized by deficits in social and communication abilities. While unaffected relatives lack severe deficits, milder impairments have been reported in some first-degree relatives. The present study sought to verify whether mild deficits in face perception are evident among the unaffected younger siblings of children with ASD. Children between 6–9 years of age completed a face-recognition task and a passive viewing ERP task with face and house stimuli. Sixteen children were typically developing with no family history of ASD, and 17 were unaffected children with an older sibling with ASD. Findings indicate that, while unaffected siblings are comparable to controls in their face-recognition abilities, unaffected male siblings in particular show relatively enhanced P100 and P100-N170 peak-to-peak amplitude responses to faces and houses. Enhanced ERPs among unaffected male siblings is discussed in relation to potential differences in neural network recruitment during visual and face processing.     

Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors

Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents’ recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.     

Siblings of individuals with autism spectrum disorders across the life course

In this article, we review the literature on siblings of individuals with autism spectrum disorders (ASD) from a lifespan developmental perspective, from infancy through adulthood, focusing on the sibling relationship and sibling well-being. We situate this review within the larger body of research on siblings of individuals with developmental disabilities (DD) across the lifespan. We then consider the genetic aspects of ASDs and their implications for siblings. We conclude that there is an evidence of atypical social and communication development in some siblings of children with an ASD during infancy. During childhood and adolescence, siblings describe both positive and negative aspects of their sibling relationship and there is some evidence that siblings of children with an ASD may be at heightened risk for social and behavioral adjustment problems. The limited research on adulthood suggests that lack of closeness in the sibling relationship and social and emotional difficulties may continue. We encourage more attention focused on developmental issues, specifically with respect to samples in narrower age groups and in longitudinal research. Finally, we note the variability in sibling outcomes, and suggest further examination of potential moderating and mediating factors, including genetic predispositions.     

Reflexive Social Orienting in Parents of Children with Autism Spectrum Disorders: Evidence from Gaze Cueing Paradigm

Twin and family studies have shown that Autism Spectrum Disorders (ASD) have a strong genetic basis and are highly heritable. First degree relatives of individuals with ASD often show mild expressions of autistic traits attributed to Broad Autism Phenotype (BAP). While numerous studies investigated different aspects of BAP, less research has been done on gaze orienting especially in parents. In the present investigation, 43 parents of children with ASD and 29 parents of typically developed children completed a modified version of gaze cueing paradigm. Results demonstrated that the control group used the eye gaze in a way that their RT was affected by congruent versus incongruent cues, while this effect was not observed in parents of individuals with ASD. Findings of the current study provide further evidence on gaze orienting deficits in parents of children with ASD, which might relate to their mild difficulties in mind-reading abilities and a common cognitive phenotype with their affected children.     

Parent-Offspring and Sibling Adoption Analyses of Parental Ratings of Temperament in Infancy and Childhood

A first step toward understanding the etiology of personality is to investigate the relative impact of genetic and environmental factors using twin and adoption designs. Twin studies of infants and young children indicate substantial genetic influence for parental ratings of temperament in the preschool years. Adoption studies, however, have not previously been reported during the early years of life. We present parent-offspring comparisons for temperament (emotionality, activity, sociability, and impulsivity) for adopted and nonadopted children yearly from 1 to 7 years of age and their biological, adoptive, and nonadoptive parents. Also presented are correlations for adoptive and nonadoptive siblings when each child was 1, 2, 3, and 4 years of age. In contrast with twin results, little evidence is found for genetic influence. The average correlation between biological parents and their adopted-away children for data averaged over the 7 years is only .03. Similarly, the average parent-offspring correlation in nonadoptive families (.08) is no greater than in adoptive families (.12). Results for nonadoptive and adoptive siblings also indicate little genetic influence. The difference between the twin and adoption results may be due to environmental effects or to nonadditive genetic variance.     

Beery VMI performance in autism spectrum disorder

Few studies have examined the visuomotor integration (VMI) abilities of individuals with autism spectrum disorder (ASD). An all-male sample consisting of 56 ASD participants (ages 3–23 years) and 36 typically developing (TD) participants (ages 4–26 years) completed the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) as part of a larger neuropsychological battery. Participants were also administered standardized measures of intellectual functioning and the Social Responsiveness Scale (SRS), which assesses autism and autism-like traits. The ASD group performed significantly lower on the Beery VMI and on all IQ measures compared to the TD group. VMI performance was significantly correlated with full scale IQ (FSIQ), performance IQ (PIQ), and verbal IQ (VIQ) in the TD group only. However, when FSIQ was taken into account, no significant Beery VMI differences between groups were observed. Only one TD participant scored 1.5 standard deviations (SDs) below the Beery VMI normative sample mean, in comparison to 21% of the ASD sample. As expected, the ASD group was rated as having significantly higher levels of social impairment on the SRS compared to the TD group across all major domains. However, level of functioning on the SRS was not associated with Berry VMI performance. These findings demonstrate that a substantial number of individuals with ASD experience difficulties compared to TD in performing VMI-related tasks, and that VMI is likely affected by general cognitive ability. The fact that lowered Beery VMI performance occurred only within a subset of individuals with ASD and did not correlate with SRS would indicate that visuomotor deficits are not a core feature of ASD, even though they present at a higher rate of impairment than observed in TD participants.     

Parent‐selected interventions for infants at‐risk for autism spectrum disorders and their affected siblings

Infants with older siblings having Autism Spectrum Disorders (ASD) are at genetically increased risk for showing characteristics of ASD in the first 2 years of life. Parents, who already have at least one child with ASD, may closely monitor their later born children and implement interventions as soon as the children begin to show what the parents believe is aberrant behavior or development that may be early stages of ASD. To date, no study has examined the number and types of services and interventions these parents access for their at‐risk infants. Using a Service and Intervention Questionnaire developed for this study, we interviewed 23 parents involved in a larger prospective study of genetically at‐risk infants who reported developmental and/or behavior problems in their at‐risk infants. Parents reported utilizing a mean of 1.83 and 7.26 services and/or interventions for their at‐risk infants and older children with ASD, respectively. Two‐thirds of the interventions received by the infants were also given to their older affected siblings. The interventions included empirically validated approaches (e.g., early intensive behavioral intervention), professional services (speech–language therapy, occupational therapy), and non‐validated treatments (e.g., diet and vitamin therapies). Overall, 81 non‐validated and 18 validated interventions were used. On a Likert‐type rating scale, parents reported being involved and satisfied with what they generally thought were effective services. They felt more involved and satisfied with ABA, and felt it was more effective than non‐validated interventions. The findings suggest that parents with infants at‐risk for ASD and an older affected child will access a variety of autism services for both children, but the parents will implement primarily non‐validated interventions. Parent education is recommended to help parents make informed treatment decisions for their children. Copyright © 2009 John Wiley & Sons, Ltd.     

Case–contrast study about parent–infant interaction in a Brazilian sample of siblings of children with autism spectrum disorders

Siblings of children with autism spectrum disorders (ASD) present greater susceptibility to developmental problems, in comparison with siblings of typically developing children. The greater prevalence of mental health disorders among parents of children with ASD increases younger siblings’ vulnerability to emotional problems. The aim of this study is to compare the interaction between carers and babies aged 2 to 26 months (M = 11.7, SD = 6.9) who are siblings of children with ASD (ASD dyads) with the interaction of dyads of siblings of typically developing children (TD dyads). The protocol of Clinical Indicators of Risk for Child Development and the Coding Interactive Behaviour measures were used to evaluate interaction. ASD dyads presented higher scores of constriction in their interaction, P = .024, with babies presenting higher scores of withdrawal behavior, P = .003, and carers presenting higher scores of depressive mood, P = .008, when compared to TD dyads. The ASD dyads have interactive impairments more frequently than do the TD dyads.     

Parents’ Communication with Siblings of Children Affected by an Inherited Genetic Condition

The objective of this study was to explore parents’ communication about risk with siblings of children affected by an inherited genetic condition, and to ascertain what level of support, if any, is required from health professionals. Semi-structured interviews were conducted with affected and unaffected children and their parents. Families were affected by one of six genetic conditions representing different patterns of inheritance and variations in age of onset, life expectancy and impact on families. Interviews were analysed using constructivist grounded theory and informed by models which focused on three different aspects of family communication. Interviews with 33 families showed that siblings’ information and support needs go largely unrecognized by health professionals and sometimes by parents. Some siblings were actively informed about the genetic condition by parents, others were left to find out and assimilate information by themselves. Siblings were given information about the current symptoms and management of the genetic condition but were less likely to know about its hereditary nature and their own potential risk. When siblings were fully informed about the condition and included in family discussion, they had a better understanding of their role within their family, and family relationships were reported to be more harmonious. The information and support needs of siblings can be overlooked. Parents with the responsibility for caring for a child affected by a genetic condition may require support from health professionals to understand and respond to their unaffected children’s need for more information about the genetic condition and its implications for the children’s own future health and reproductive decision-making.     

Broader Autism Phenotype in Parents of Children with Autism: A Systematic Review of Percentage Estimates

The broader autism phenotype (BAP) is a collection of sub-diagnostic autistic traits more common in families of individuals with autism spectrum disorder (ASD) than in the general population. BAP is a latent construct that can be defined using different domains, measured using multiple instruments, and reported using different techniques. Therefore, estimates of BAP may vary greatly across studies. Our objective was to systematically review studies that reported occurrence of BAP in parents of children with ASD in order to quantify and describe heterogeneity in estimates. We systematically searched PubMed and Scopus using PRISMA guidelines for studies quantifying percentage of parents of children with ASD who had BAP. We identified 41 studies that measured BAP in parents of children with ASD. These studies used eight different instruments, four different forms of data collection, and had a wide range of sample sizes (N?=?4 to N?=?3299). Percentage with BAP ranged from 2.6% to 80%. BAP was more prevalent in fathers than mothers. Parental BAP may be an important tool for parsing heterogeneity in ASD etiology and for developing parent-mediated ASD interventions. However, the variety in measurement instruments and variability in study samples limits our ability to synthesize estimates. To improve measurement of BAP and increase consistency across studies, universal methods should be accepted and adopted across studies. A more consistent approach to BAP measurement may enable efficient etiologic research that can be meta-analyzed and may allow for a larger evidence base that can be used to account for BAP when developing parent-mediated interventions.     

The role of culture in families' treatment decisions for children with autism spectrum disorders

There is little information available about how and why parents of children with autism spectrum disorders (ASD) make decisions regarding which of the many available treatments to implement with their children. Given the lack of available information regarding treatment efficacy, it is likely that parents' beliefs about child development, interpretation of the symptoms of ASD, its etiology and course, and their experiences with the health system influence treatment decisions. This article addresses these issues within the context of cultural influences. We review the small body of existing literature regarding cultural influences on decisions regarding ASD and draw implications for the study and treatment of ASD from the larger body of literature on culture and other health conditions of childhood. In addition to examining the potential for differences in clinical presentation by culture and different experiences with the healthcare system, we use Kleinman's framework of questions for understanding the role of culture in the interpretation and treatment of ASD. These questions address interpretation of symptoms and beliefs about their cause, course, and treatment. Finally, we present specific language for clinicians to use in discussion with families with different cultural beliefs about the use of less traditional treatment strategies.     

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation

Reasons for the underutilization of genetics services by families of children with autism spectrum disorders (ASD) are not well understood. We report the identification of factors associated with this underuse. Survey-based study of parents and/or guardians of children with ASD. One hundred fifty-five families completed the questionnaire. Thirty-one of 155 (20%) children had seen a genetics professional. Forty-nine of 154 (32%) children had undergone genetic testing. Parents whose child saw a genetics professional were more likely to 1) Have a primary provider refer for or suggest a genetics evaluation 2) Have asked for a referral, and/or 3) Know another person with a genetic cause of ASD. amilies of children with ASD who have not received genetics services are less aware of their availability and utility. They are also less likely to have their provider recommend a clinical genetics evaluation. Efforts should be taken to increase awareness of both health providers and parents regarding the usefulness of genetics services for ASD.     

Evaluating the endophenotype model of ADHD neuropsychological deficit: results for parents and siblings of children with ADHD combined and inattentive subtypes

Neurogenetic models predict neuropsychological weaknesses in the relatives of children with attention-deficit/ hyperactivity disorder (ADHD). The authors examined executive and regulatory measures in 386 relatives (307 parents, 79 siblings) of children with ADHD combined type, ADHD inattentive type, and controls. Predicted deficits were seen on trailmaking (relatives of ADHD combined type only), stop-signal reaction times (relatives of girls only), and response variability (mothers only) but not on naming or output speed. Effects generally held, even with relatives' ADHD status controlled. A neuropsychologically impaired subgroup of children with ADHD had relatives with clear neuropsychological weaknesses. The authors conclude that a neurogenetic model of ADHD etiology is supportable only for a subset of executive functions and that neuropsychological heterogeneity warrants more examination in ADHD.     

Sub‐threshold autism traits: The role of trait emotional intelligence and cognitive flexibility

Theory and research suggests that features of autism are not restricted to individuals diagnosed with autism spectrum disorders (ASDs), and that autism‐like traits vary throughout the general population at lower severities. The present research first investigated the relationship of autism traits with trait emotional intelligence and empathy in a sample of 163 adults aged between 18 and 51 years (44% male). It then examined performance on a set of tasks assessing social cognition and cognitive flexibility in 69 participants with either high or low scores on ASD traits. Results confirm that there is pronounced variation within the general population relating to ASD traits, which reflect similar (though less severe) social‐cognitive and emotional features to those observed in ASDs.     

IQ correlations in transracial adoptive families

IQ tests were administered to all available members over 4 years old in 101 transracial adoptive families when the adopted children were an average of 7 years old and again when they averaged 17 years old. At both times, 426 members of 93 families were studied; 398 were seen in person and administered the WAIS-R or WISC-R. IQ correlations were calculated for adopted and biological parent-child pairs, and for genetically related and unrelated siblings. Educational levels of birth parents were correlated with the IQ scores of their adopted-away children. Results show that biologically related family members tended to resemble each other intellectually more than did adoptive family members at both time points. IQ correlations for biological parent-child pairs exceeded those for adoptive parent-child pairs, and correlations were greater for genetically related than unrelated siblings. In late adolescence, the IQ scores of unrelated siblings in the transracial adoptive families were more similar than those of unrelated adolescent siblings pairs reported in other studies. The pattern of IQ correlations for unrelated siblings suggested that familial environmental influences on IQ decline from childhood to late adolescence, but this conclusion was not supported by parent-child IQ correlations. The effects of selective placement on familial IQ correlations were small. Estimates of genetic and familial environmental influences on IQ were very similar to those of other studies. This suggests that the influences on intellectual development in this sample of black/interracial adoptees reared in white families are similar to those for children in the majority populations of the United States and Western Europe.     

Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings

We investigated early behavioural markers of autism spectrum disorder (ASD) using the Autism Observational Scale for Infants (AOSI) in a prospective familial high-risk (HR) sample of infant siblings (N = 54) and low-risk (LR) controls (N = 50). The AOSI was completed at 7 and 14 month infant visits and children were seen again at age 24 and 36 months. Diagnostic outcome of ASD (HR-ASD) versus no ASD (HR-No ASD) was determined for the HR sample at the latter timepoint. The HR group scored higher than the LR group at 7 months and marginally but non-significantly higher than the LR group at 14 months, although these differences did not remain when verbal and nonverbal developmental level were covaried. The HR-ASD outcome group had higher AOSI scores than the LR group at 14 months but not 7 months, even when developmental level was taken into account. The HR-No ASD outcome group had scores intermediate between the HR-ASD and LR groups. At both timepoints a few individual items were higher in the HR-ASD and HR-No ASD outcome groups compared to the LR group and these included both social (e.g. orienting to name) and non-social (e.g. visual tracking) behaviours. AOSI scores at 14 months but not at 7 months were moderately correlated with later scores on the autism diagnostic observation schedule (ADOS) suggesting continuity of autistic-like behavioural atypicality but only from the second and not first year of life. The scores of HR siblings who did not go on to have ASD were intermediate between the HR-ASD outcome and LR groups, consistent with the notion of a broader autism phenotype.