Maternal and paternal insightfulness and reaction to the diagnosis in families of preschoolers with Autism spectrum disorder: associations with observed parental sensitivity and inter-parent interaction.

Sensitivity among parents of children with Autism Spectrum Disorder (ASD) is based on parental insightfulness and on resolution regarding the child's diagnosis. This has been supported in studies of mothers, and we examined whether the same is true regarding fathers. Also, we asked whether parents' Insightfulness and Resolution tap general mentalization and therefore also be expressed in parent-parent interactions. Eighty preschooler boys with ASD and both of their parents participated. As expected, fathers who were more insightful and mothers who were more resolved were more sensitive. Contrary to expectations, no associations were found between fathers' resolution and mothers' insightfulness and their sensitivity. Associations were found between parental insightfulness and resolution and positive parent-parent interaction. The findings are the first to demonstrate the insightfulness-sensitivity link among fathers of children with ASD. Also, they suggest that both insightfulness and resolution involve general mentalization that is evident both in parent-child and parent-parent interactions.

Parental insightfulness is associated with mother-father-child interactions among families of preschoolers with an Autism Spectrum Disorder diagnosis.

BACKGROUND: Parental insightfulness underlies parental sensitive behavior and is associated with secure attachment among Typically Developing (TD) children and also among children with Autism Spectrum Disorder (ASD). Moving beyond the parent-child dyad, a study of TD children and their parents linked mothers' and fathers' combined insightfulness to triadic interactions. The goal of the current study was to examine this association in families with children with ASD. The hypothesis was that the interactions in families in which both parents are insightful will be more cooperative than in families in which only one or neither parent was insightful. METHODS: Eighty preschooler boys with ASD and both of their parents participated in the study. Parental insightfulness was assessed employing the Insightfulness Assessment (IA) and mother-father-child interactions were observed and coded employing the Lausanne Triadic Play (LTP) procedure. RESULTS: As expected, families in which both parents were insightful displayed higher parental coordinated support in the LTP than families in which one or neither parent was insightful, controlling for children's IQ and severity of symptoms. Children's engagement with their parents was associated with their IQ and severity of symptoms but not with parental insightfulness. CONCLUSIONS: The importance of considering paternal, in addition to maternal insightfulness as a foundation for parental coordinated support in family interactions, is discussed, as well as the contribution of the LTP in assessing family interactions with children diagnosed with ASD.

Attachment to fathers and mothers in preschoolers with an Autism Spectrum Disorder diagnosis.

We examined whether the Strange Situation Procedure (SSP) is applicable not only for assessing children with Autism Spectrum Disorder (ASD) and their mothers but also with their fathers. Forty preschoolers with ASD were observed in the SSP with their mothers and 39 with their fathers. Unexpectedly, the SSP was found to be not applicable (NA) to 25% of the SSPs with fathers because levels of attachment behavior were minimal, but all SSPs with mothers were codable. NA children had lower cognitive functioning and more severe symptoms than those not so coded. Insecure children with their fathers had more severe symptoms than secure children, but were not different in their cognitive functioning. No associations between attachment with mother and severity of symptoms/cognitive functioning were found. Attachment was unrelated to parents' distress or Broad Autism Phenotype. The study raises questions regarding the applicability of the SSP with fathers of children with ASD.

Disrupted maternal communication and attachment disorganization in children with autism spectrum disorder.

We examined whether disrupted maternal communication, which is associated with disorganized attachment in typically developing children, is also associated with disorganized attachment in children with ASD. The attachments of 45 boys with ASD and maternal disruption were assessed in the Strange Situation Procedure. Analyses revealed a link between low cognitive functioning and resistant/ambivalent and disorganized attachment, and children's functioning was therefore controlled. Contrary to expectations, mothers of children with disorganized attachments did not show more disrupted communication than mothers of children with organized attachments. However, the 4-way attachment breakdown showed that the mothers of disorganized and ambivalent/resistant children had higher disruption scores than mothers of secure and avoidant children. The findings suggest that the expected associations between maternal disruption and attachment disorganization apply to children with ASD as well, but raise questions whether disrupted behavior is a unique antecedent of disorganized attachment or also of resistant/ambivalent attachment.

Maternal resolution of preterm birth from 1 to 18 months.

Preterm birth can be traumatic for some mothers, involving feelings of grief over the hoped-for full-term pregnancy. In this longitudinal study, we interviewed 50 mothers of preterm infants, using the reaction to diagnosis interview when their child was 1 month and 18 months old. We examined change and stability in resolution status over time. Additionally, we explored possible predictors of resolution trajectories between 1 and 18 months. Findings indicated that resolution at 1 month was not yet common. The rate of resolution at 18 months was 62.6%, compared with 38.2% at 1 month. Prenatal precursors of preterm birth, lower medical neonatal risk, and lower maternal stress at 1 month significantly differentiated mothers who attained resolution as early as at 1 month from those who were unresolved at 1 and 18 months. Lower maternal stress at 1 month was the only predictor that significantly differentiated initially unresolved mothers who later attained resolution from those who remained unresolved at 18 months. Discussion focuses on maternal stress, which may mark a subgroup of mothers of preterm infants who are at risk of being unresolved through the first 18 months, and who may benefit from resolution-focused intervention.

Stability and change in resolution of diagnosis among parents of children with autism spectrum disorder: Child and parental contributions.

The contribution of change over time in parent and child characteristics to parents' resolution of child's diagnosis was examined among 78 mothers and fathers of children with autism spectrum disorder. Children's characteristics (e.g., mental age and severity of symptoms), parental characteristics (e.g., attachment-related anxiety and stress level), and parents' resolution of their child's diagnosis (resolved vs. unresolved) were examined at Time 1, and reassessed 3 years later at Time 2. Results indicated a deferential contribution of change in parent and child characteristics among mothers and fathers. An increase in child symptom severity and in maternal attachment-related anxiety, as well as longer durations of time since receiving the diagnosis, significantly predicted maternal resolved status at Time 2. Conversely, none of the changes in children's or paternal characteristics predicted paternal resolved status at Time 2. Results are discussed in relation to child and parental contributions to resolution, the differences in the adjustment and well-being of mothers and fathers of children with autism spectrum disorder, parental growth following receiving the diagnosis, and the need for intervention components specific to parental resolution and attachment-related anxiety.

Positive and challenging themes in parents' perceptions of their relationships with their child with autism: Comparison between mothers and fathers.

LAY ABSTRACT: Most studies of how parents of children with autism see the parent-child relationship used questionnaires completed by the parents and focused on challenges. This study broadened the lens by interviewing parents using open-ended questions that provide an opportunity to raise challenging but also positive experiences. Seventy-five mother-father dyads were interviewed individually about their own and their spouses' relationships with their preschooler, and we found nine relationship themes. In descending order, the themes mentioned most frequently by mothers were "Security and Closeness," "Love," and "Tenderness and Sensitivity," and by fathers were "Pleasure in Joint Activities," "Security and Closeness," and "Guidance." Positive themes were more common than challenging themes. Finally, more mothers mentioned the themes "Love," "Tenderness and Sensitivity," "High Involvement and Care," and "Difficulties" than did fathers, whereas more fathers mentioned the themes "Guidance" and "Pleasure in Joint Activities" than did mothers. The findings portray a nuanced view of the parenting experience of mothers and fathers of preschoolers with autism.

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

Recent work has led to the identification of several susceptibility genes for autism spectrum disorder (ASD) and an increased appreciation of the importance of rare and de novo mutations. Some of the mutations may be very hard to detect using current strategies, especially if they are located in regulatory regions. We present a new approach to identify functional mutations that exploit the fact that many rare mutations disrupt the expression of genes from a single parental chromosome. The method incorporates measurement of the relative expression of the two copies of a gene across the genome using single nucleotide polymorphism arrays. Allelic expression has been successfully used to study common regulatory polymorphisms; however, it has not been implemented as a screening tool for rare mutation. We tested the potential of this approach by screening for monoallelic expression in lymphoblastoid cell lines derived from a small ASD cohort. After filtering regions shared across multiple samples, we identified genes showing monoallelic expression in specific ASD samples. Validation by quantitative sequencing demonstrated that the genes (or only part of them) are monoallelic expressed. The genes included both previously suspected risk factors for ASD and novel candidates. In one gene, named autism susceptibility candidate 2 (AUTS2), we identified a rare duplication that is likely to be the cause of monoallelic expression. Our results demonstrate the ability to identify rare regulatory mutations using genome-wide allelic expression screens, capabilities that could be expanded to other diseases, especially those with suspected involvement of rare dominantly acting mutations.

Maternal sensitivity mediates the link between maternal insightfulness/resolution and child-mother attachment: the case of children with Autism Spectrum Disorder.

This study examined the hypothesis that maternal sensitivity mediates the association between maternal Insightfulness/Resolution and child attachment in a sample of preschool age boys with Autism Spectrum Disorders. This study used the Insightfulness Assessment to assess insightfulness and the Reaction to Diagnosis Interview to assess mothers' resolution. Maternal sensitivity was assessed from mother-child play observations, and the security of children's attachment was assessed using the Strange Situation Procedure. The results supported the mediation model, and their implications for attachment research, research on intervention in autism, and clinical work are discussed.

All-trans retinoic acid upregulates reduced CD38 transcription in lymphoblastoid cell lines from Autism spectrum disorder.

Deficits in social behavior in mice lacking the CD38 gene have been attributed to impaired secretion of oxytocin. In humans, similar deficits in social behavior are associated with autistic spectrum disorder (ASD), for which genetic variants of CD38 have been pinpointed as provisional risk factors. We sought to explore, in an in vitro model, the feasibility of the theory that restoring the level of CD38 in ASD patients could be of potential clinical benefit. CD38 transcription is highly sensitive to several cytokines and vitamins. One of these, all-trans retinoic acid (ATRA), a known inducer of CD38, was added during cell culture and tested on a large sample of N = 120 lymphoblastoid cell (LBC) lines from ASD patients and their parents. Analysis of CD38 mRNA levels shows that ATRA has an upmodulatory potential on LBC derived from ASD patients as well as from their parents. The next crucial issue addressed in our study was the relationship between levels of CD38 expression and psychological parameters. The results obtained indicate a positive correlation between CD38 expression levels and patient scores on the Vineland Adaptive Behavior Scale. In addition, analysis of the role of genetic polymorphisms in the dynamics of the molecule revealed that the genotype of a single-nucleotide polymorphism (rs6449182; C>G variation) in the CpG island of intron 1, harboring the retinoic-acid response element, exerts differential roles in CD38 expression in ASD and in parental LBC. In conclusion, our results provide an empirical basis for the development of a pharmacological ASD treatment strategy based on retinoids.

The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics.

Autism is one of the most heritable neurodevelopmental conditions and has an early onset, with symptoms being required to be present in the first 3 years of life in order to meet criteria for the 'core' disorder in the classification systems. As such, the focus on identifying a prodrome over the past 20 years has been on pre-clinical signs or indicators that will be present very early in life, certainly in infancy. A number of novel lines of investigation have been used to this end, including retrospective coding of home videos, prospective population screening and 'high risk' sibling studies; as well as the investigation of pre- and peri-natal, brain developmental and other biological factors. While no single prodromal sign is expected to be present in all cases, a picture is emerging of indicative prodromal signs in infancy and initial studies are being undertaken to attempt to ameliorate early presentation and even 'prevent' emergence of the full syndrome.

Do developmental and temperamental characteristics mediate the association between preterm birth and the quality of mother-child interaction?

BACKGROUND: The current study aims to evaluate the association between preterm birth and the quality of mother-child interaction of very preterm-, moderate preterm-, and full-term-born children at 18 and 36 months and to determine whether developmental and behavioral characteristics mediate the association between preterm birth and the quality of mother-child interaction. METHOD: Participants included 110 preterm-born children and 39 full-term-born children assessed at ages 18 and 36 months. Mother-child free play interactions, the Mullen Scales of Early Learning, the Infant Behavior Questionnaire, and the Early Childhood Behavior Questionnaire were administered. RESULTS: Significant associations between preterm birth and the quality of mother-child interaction were found at 18 and 36 months. The mother-child interaction quality was less optimal for the preterm-born children compared with the full-term-born children, mainly so for the very preterm-born children. Unlike behavioral characteristics, cognitive development was found to mediate the association between the gestational age-based group and the quality of mother-child interaction. CONCLUSIONS: Intervention programs for preterm-born children and their families, should consider maternal and children's behaviors during mother-child interactions, in addition to cognitive, language, motor and emotional regulation abilities, and particularly so with very preterm-born children, who exhibit slower cognitive development.

Mothers of securely attached children with autism spectrum disorder are more sensitive than mothers of insecurely attached children.

In the current study we examined the links between maternal sensitivity and children's secure attachment in a sample of 45 preschool-age boys with Autism Spectrum Disorders (ASD). We hypothesized that mothers of securely attached children would be more sensitive to their children than mothers of insecurely attached children. Children's attachment was assessed using Ainsworth's Strange Situation Procedure (SSP; Ainsworth, Blehar, Waters, & Wall, 1978). Mothers' sensitivity and children's responsiveness to their mothers were assessed using the Emotional Availability Scales (Biringen, Robinson, & Emde, 1993). The findings supported our hypothesis: mothers of securely attached children were more sensitive to their children even when controlling for the severity of children's diagnosis (Autism Disorder vs. Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS)), children's level of functioning (high vs. low), and children's levels of responsiveness. The significance of sensitivity for security of attachment in ASD and the implications of these findings for the validity of the SSP in children with ASD are discussed.

Maternal insightfulness and resolution of the diagnosis are associated with secure attachment in preschoolers with autism spectrum disorders.

In the current study (a) maternal insightfulness into the experience of the child and (b) resolution with respect to the child's diagnosis and their associations with children's security of attachment were examined in a sample of 45 preschoolers (mean age = 49 months) with autism spectrum disorders (ASD). It was hypothesized that mothers who were insightful and resolved would be more likely to have securely attached children than mothers who were neither insightful nor resolved. The findings supported this hypothesis. The implications of insightfulness and resolution for child attachment in the context of ASD are discussed.

Cumulative Risk of the Oxytocin Receptor Gene Interacts with Prenatal Exposure to Oxytocin Receptor Antagonist to Predict Children's Social Communication Development.

Compelling evidence for the far-reaching role of oxytocin (OT) in social cognition and affiliative behaviors set the basis for examining the association between genetic variation in the OT receptor (OXTR) gene and risk for autism spectrum disorder (ASD). In the current study, gene-environment interaction between OXTR and prenatal exposure to either OT or OXTR antagonist (OXTRA) in predicting early social communication development was examined. One hundred and fifty-three children (age: M = 4.32, SD = 1.07) were assigned to four groups based on prenatal history: children whose mothers prenatally received OXTRA and Nifedipine to delay preterm labor (n = 27); children whose mothers received Nifedipine only to delay preterm labor (n = 35); children whose mothers received OT for labor augmentation (n = 56), and a no intervention group (n = 35). Participants completed a developmental assessment of intelligence quotient (IQ), adaptive behavior, and social communication abilities. DNA was extracted via buccal swab. A genetic risk score was calculated based on four OXTR single nucleotide polymorphisms (rs53576, rs237887, rs1042778, and rs2254298) previously reported to be associated with ASD symptomatology. OXTRrisk-allele dosage was associated with more severe autism diagnostics observation schedule (ADOS) scores only in the OXTRA group. In contrast, in the Nifedipine, OT, and no intervention groups, OXTRrisk-allele dosage was not associated with children's ADOS scores. These findings highlight the importance of both genetic and environmental pathways of OT in signaling early social development and raise the need for further research in this field. Autism Res 2019, 12: 1087-1100. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In the current study, we examined if the association between prenatal exposure to an oxytocin receptor antagonist (OXTRA) and autism spectrum disorder (ASD) related impairments are dependent on an individual's genetic background for the oxytocin receptor gene (OXTR). Children who carried a greater number of risk alleles for the OXTR gene and whose mothers received OXTRA to delay preterm labor showed more ASD-related impairments. The results highlight the importance of both genetic and environmental pathways of oxytocin in shaping early social development.

Early motor abilities in infants at heightened versus low risk for ASD: A Baby Siblings Research Consortium (BSRC) study.

Research has identified early appearing differences in gross and fine motor abilities in infants at heightened risk (HR) for autism spectrum disorder (ASD) because they are the younger siblings of children with ASD, and it suggests that such differences may be especially apparent among those HR infants themselves eventually diagnosed with ASD. The present study examined overall and item-level performance on the gross (GM) and fine motor (FM) subscales of the Mullen Scales of Early Learning (MSEL) administered at 6 months to a large, geographically diverse sample of HR infants with varying developmental outcomes (ASD, elevated ADOS without ASD, low ADOS without ASD) and to infants with low ASD risk (low risk [LR]). We also explored whether motor abilities assessed at 6 months predicted ASD symptom severity at 36 months. FM (but not GM) performance distinguished all 3 HR groups from LR infants with the weakest performance observed in the HR-Elevated ADOS children, who exhibited multiple differences from both LR and other HR infants in both gross and fine motor skills. Finally, 6-month FM (but not GM) scores significant predicted 36-month ADOS severity scores in the HR group; but no evidence was found of specific early appearing motor signs associated with a later ASD diagnosis. Vulnerabilities in infants' fine and gross motor skills may have significant consequences for later development not only in the motor domain but in other domains. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Risk for ASD in Preterm Infants: A Three-Year Follow-Up Study.

BACKGROUND: The aim of this study was to examine the long-term risk for autism spectrum disorders (ASD) in individuals who are born preterm and full-term using both observational instruments and parental reports. Neonatal risk factors and developmental characteristics associated with ASD risk were also examined. METHOD: Participants included 110 preterm children (born at a gestational age of ≤ 34 weeks) and 39 full-term children assessed at ages 18, 24, and 36 months. The Autism Diagnostic Observation Schedule, the Modified Checklist for Autism in Toddlers, the Autism Diagnostic Interview-Revised, the Social Communication Questionnaire, and the Mullen Scales of Early Learning were administered. RESULTS AND CONCLUSIONS: The long-term risk for ASD was higher when parental reports were employed compared to observational instruments. At 18 and 24 months, a higher long-term risk for ASD was found for preterm children compared to full-term children. At 36 months, only one preterm child and one full-term child met the cutoff for ASD based on the ADOS, yet clinical judgment and parental reports supported an ASD diagnosis for the preterm child only. Earlier gestational age and lower general developmental abilities were associated with elevated ASD risk among preterm children.

Developmental assessment of preterm infants: Chronological or corrected age?

The aim of this study is to examine the effect of age correction on the developmental assessment scores of preterm infants, using for the first time, the Mullen scales of early learning (MSEL) test. Participants included 110 preterm infants (born at a gestational age of ≤ 34 weeks) at ages 1, 4, 8, 12, 18, 24 and 36 months. The corrected age-based MSEL composite score and each of the five MSEL scale scores were significantly higher than chronological age-based scores at all ages. These corrected scores were significantly higher than the chronological scores regardless of gestational age whether weight was, or adequate or small for gestational age. Larger differences between corrected and chronological age-based scores significantly correlated with earlier gestational age and with lower birth weight between 1 and 24 months but not at 36 months. Using chronological age-based scores yielded significantly more infants identified with developmental delays than using corrected age-based scores. The findings indicate that clinicians and researchers, as well as family members, should be aware of and acknowledge the distinction between corrected and chronological ages when evaluating preterm infants in research and clinical practices.

Early developmental trajectories of preterm infants.

BACKGROUND AND OBJECTIVES: Preterm infants are at risk for neuro-developmental impairments and atypical developmental trajectories. The aims of this study were to delineate early developmental trajectories of preterm and full-term infants. METHODS: The cognitive, language, and motor development of 149 infants - 19 extremely preterm (EPT), 34 very preterm (VPT), 57 moderately preterm (MPT), and 39 full-term (FT) - was evaluated using Mullen Scales at 1, 4, 8, 12, and 18 months. Mixed models were applied to examine group differences. Gender, maternal education, and neurobehavior were included as predictors of developmental trajectories. RESULTS: The EPT and VPT infants achieved significantly lower scores than the FT infants in all domains, with a significantly increasing gap over time. The MPT infants' trajectories were more favorable than those of the EPT and VPT infants yet lower than the FT infants on the Visual Reception, Gross, and Fine Motor subscales. Male gender and lower maternal education were associated with lower scores that declined over time. Abnormal neonatal neurobehavior was associated lower Mullen scores and with less stability in scores over time. CONCLUSIONS: The EPT and VPT infants were found to have disadvantages across all domains. The MPT infants revealed more favorable developmental trajectories yet displayed vulnerability compared to the FT infants. Gender, maternal education, and neonatal neurobehavior are important in predicting the developmental outcomes of preterm infants.

Preterm-infant emotion regulation during the still-face interaction.

Very-preterm (VPT), moderately-preterm (MPT), and full-term (FT) infants' emotion-regulation behaviors were assessed via the Still-Face procedure at a corrected age of four months. As a developmental task during the first year of life, emotion regulation is important for social and cognitive development. Although substantial evidence indicates that VPT infants exhibit emotion-regulation difficulties, little is known about MPT infants' emotion regulation capabilities, this group also possibly being at risk. The participants included 135 parent-infant dyads: 46 VPT (gestational age 24-32 weeks), 51 MPT (gestational age 32-34 weeks), and 38 FT (gestational age 37-41 weeks). The infants' affect, gaze-aversion, and self-comforting behaviors were coded. Preterm infants responded to parental still face in similar fashion to FT infants, displaying robust still-face and recovery effects. The preterm infants exhibited less developed emotion-regulation behaviors, however, manifested in less positive affect and more gaze aversion in the face-to-face and reunion episodes compared to FT infants. With respect to self-comforting behaviors, each group displayed a significantly different pattern of behaviors throughout the procedure, suggesting better emotion regulation skills among MPT infants compared to the VPT infants. The findings on gaze aversion and self-comforting behaviors could have implications for strategies to incorporate into intervention programs supporting development of emotion regulation skills.