Behavioral style of young boys with fragile X syndrome

To study the behavioral style or temperament of 45 boys, aged 47 to 88 months, with full-mutation fragile X syndrome (FXS), 102 parent ratings on the Behavioral Style Questionnaire (McDevitt and Carey 1978) were recorded. These ratings were analysed with a variety of statistical techniques. Considerable variability was evident in temperament profiles; consequently, a characteristic profile was not identified for FXS. Boys with FXS differed significantly from the reference sample on five of nine temperament dimensions. They were more active and less intense, approachable, adaptable, and persistent. No significant differences were found in distractibility, rhythmicity, mood, or sensory threshold. Only 16 of the 45 boys in the sample could be classified as easy, difficult, or slow to warm up. There was no link between severity of developmental disability and temperament ratings. This supports the theory that intelligence and temperament are separate constructs. Scores on temperament dimensions were stable over time. Our results suggest that many of the behaviors observed in boys with FXS may be related to temperament. Consequently, parent counseling and environmental modifications should be considered as first line treatment. The question of whether the behavior problems observed in boys with FXS are innate or whether they result from poorness of fit between child and environment is an important issue that needs further study.     

Parent-Reported Temperament Trajectories Among Infant Siblings of Children with Autism

Temperament atypicalities have been documented in infancy and early development in children who develop autism spectrum disorders (ASD). The current study investigates whether there are differences in developmental trajectories of temperament between infants and toddlers with and without ASD. Parents of infant siblings of children with autism completed the Carey Temperament Scales about their child at 6, 12, 18, 24, and 36 months of age. Temperament trajectories of children with ASD reflected increases over time in activity level, and decreasing adaptability and approach behaviors relative to high-risk typically developing (TD) children. This study is the first to compare temperament trajectories between high-risk TD infants and infants subsequently diagnosed with ASD in the developmental window when overt symptoms of ASD first emerge.     

Different,difficult or distinct? Mothers' and fathers' perceptions of temperament in children with and without intellectual disabilities

Background Can ratings of temperament be a way of identifying young children with intellectual disabilities (ID) who are at risk for being experienced as difficult? We aimed to explore parents' reports of temperament in their young children with or without ID, as well as positive and negative impact of the child on parents. Method Mothers and fathers of 55 children recently diagnosed with ID and 183 age‐matched typically developing (TD) children completed the EASI Temperamental Survey and two scales of the Family Impact Questionnaire measuring positive and negative impact of the child on parents. Results Parents rated children with mixed ID/DD (developmental delay) as shyer and more impulsive, and less active and sociable when compared with TD children. Children with mixed ID/DD were also reported to have more negative and less positive impact on the family compared with the TD group. In subgroup analyses, children with Down syndrome and cerebral palsy/motor impairment were described as having less negative impact on parents and were described as low in negative emotionality. Children with autism spectrum disorder (ASD), ID/DD nos and other less common diagnoses had a similar pattern of temperament with high emotionality, shyness and impulsivity, and low activity and sociability. Parents of children with ASD and ID/DD reported the highest level of negative impact. Conclusions Temperamental characteristics such as high negative emotionality and impulsivity, which can be identified earlier than behavioural problems, could be indicators of negative impact on parents of young children with ID. Despite great variability in temperament among children with mixed ID/DD, results indicated common temperamental characteristics among children with ASD, ID/DD and other diagnosis.     

Factor Structure of the Children’s Behavior Questionnaire in Children with Williams Syndrome

To examine the factor structure of temperament in 5-10-year-olds with Williams syndrome, an exploratory factor analysis was conducted on the responses of parents of 192 children on the children's behavior questionnaire. Four factors were identified. Two corresponded to factors reported for typically developing children: effortful control and extraversion/surgency and two corresponded to the temperament constructs of withdrawal/inhibition and irritability/frustration and activity, observed in typically developing infants. Parents of 109 of the 192 participants also completed the anxiety disorders interview schedule, parent version. Children with an anxiety disorder other than specific phobia differed significantly from children without an anxiety disorder on all factors except extraversion/surgency. Children with attention deficit hyperactivity disorder (ADHD) differed significantly from children without ADHD on effortful control and extraversion/surgency.     

Developmental Profiles of Infants and Toddlers with Autism Spectrum Disorders Identified Prospectively in a Community-Based Setting

This prospective, longitudinal, study charted the developmental profiles of young children with Autism Spectrum Disorders (ASD) identified through routine developmental surveillance. 109 children with Autistic Disorder (AD), 'broader' ASD, and developmental and/or language delays (DD/LD) were assessed using the Mullen Scales of Early Learning (MSEL) at 12-months (n?=?10 assessments), 18-months (n?=?45 assessments), and 24-months (n?=?99 assessments). The children with AD performed most poorly, overall, than the ASD and DD/LD groups on the MSEL. Furthermore, the children with AD/ASD displayed an uneven cognitive profile, with poorer performance on verbal (particularly receptive language) relative to nonverbal skills. There was also evidence of developmental slowing in verbal skills from 18- to 24-months for children on the spectrum, especially those with AD. Given that the poor receptive, relative to expressive, language profile emerges very early in life for children with AD/ASD, this cognitive profile may serve as an additional red flag to social attention and communication deficits. Receptive language should therefore be stringently monitored in any developmental surveillance program for autism spectrum disorders in the second year of life.     

A Preliminary Epidemiologic Study of Social (Pragmatic) Communication Disorder Relative to Autism Spectrum Disorder and Developmental Disability Without Social Communication Deficits

The goal of this preliminary investigation was to compare demographic and clinical characteristics in a sample of children with likely Social (Pragmatic) Communication Disorder (SCD) (N?=?117) to those in children with possible (N?=?118) and some (N?=?126) SCD traits, other developmental delay (DD) (N?=?91) and autism spectrum disorder (ASD) (N?=?642). We used data from the Study to Explore Early Development (SEED), a multi-site case–control study. Items reflecting SCD DSM-5 criteria were selected from an autism diagnostic measure, with SCD categories identified by creating quartiles. Our results suggest that SCD may fall along a continuum involving elevated deficits (in comparison to DD with no SCD) in social communication and restricted and repetitive behavior that do not reach the clinical threshold for ASD.

     

Breif Report: Sensory Abnormalities as Distinguishing Symptoms of Autism Spectrum Disorders in Young Children

The purpose of this study was to explore the sensory profile of young children with ASD compared to young children with other developmental delays (DD) at first ASD assessment. Results found that young children with ASD had more tactile and taste/smell sensitivities and difficulties with auditory filtering than young children with other DD. Moreover, sensory scores were significantly correlated with stereotyped interests and behaviors. These findings support the hypotheses that young children with ASD show more sensory impairments than young children with other DD and that sensory symptoms are significantly related to stereotyped interests and behaviors. Results also suggest that sensory abnormalities are distinguishing symptoms of ASD that should be considered in diagnostic algorithms for younger cohorts.     

Repetitive and Stereotyped Behaviors in Children with Autism Spectrum Disorders in the Second Year of Life

This study examined repetitive and stereotyped behaviors (RSB) in children with autism spectrum disorders (ASD, n = 50), developmental delays without ASD (DD; n = 25) and typical development (TD, n = 50) between 18 and 24 months of age. Children with ASD demonstrated significantly higher frequency and longer duration of RSB with objects, body, and sensory behaviors during a systematic behavior sample than both the DD and TD groups. RSB with objects were related to concurrent measures of symbolic capacity and social competence in the second year and predicted developmental outcomes as well as severity of autism symptoms at 3 years in children with communication delays. RSB in the second year appear to be important for early identification and prediction of developmental outcomes.     

Risk Factors Associated with Self-Injurious Behaviors in Children and Adolescents with Autism Spectrum Disorders

While self-injurious behaviors (SIB) can cause significant morbidity for children with autism spectrum disorders (ASD), little is known about its associated risk factors. We assessed 7 factors that may influence self-injury in a large cohort of children with ASD: (a) atypical sensory processing; (b) impaired cognitive ability; (c) abnormal functional communication; (d) abnormal social functioning; (e) age; (f) the need for sameness; (g) rituals and compulsions. Half (52.3%, n?=?126) of the children (n?=?241, aged 2–19?years) demonstrated SIB. Abnormal sensory processing was the strongest single predictor of self-injury followed by sameness, impaired cognitive ability and social functioning. Since atypical sensory processing and sameness have a greater relative impact on SIB, treatment approaches that focus on these factors may be beneficial in reducing self-harm in children with ASD.     

Neural Correlates of Sensory Hyporesponsiveness in Toddlers at High Risk for Autism Spectrum Disorder

Altered patterns of sensory responsiveness are a frequently reported feature of Autism Spectrum Disorder (ASD). Younger siblings of individuals with ASD are at a greatly elevated risk of a future diagnosis of ASD, but little is known about the neural basis of sensory responsiveness patterns in this population. Younger siblings (n?=?20) of children diagnosed with ASD participated in resting electroencephalography (EEG) at an age of 18 months. Data on toddlers’ sensory responsiveness were obtained using the Sensory Experiences Questionnaire. Correlations were present between hyporesponsiveness and patterns of oscillatory power, functional connectivity, and signal complexity. Our findings suggest that neural signal features hold promise for facilitating early identification and targeted remediation in young children at risk for ASD.     

Gastrointestinal Problems in Children with Autism,Developmental Delays or Typical Development

To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior Checklist (ABC) subscales comparing ASD children with high versus low frequency GI symptoms. Compared to TD children, those with ASD [aOR 7.92 (4.89–12.85)] and DD [aOR 4.55 (2.51–8.24)] were more likely to have at least one frequent GI symptom. Restricting to ASD children, those with frequent abdominal pain, gaseousness, diarrhea, constipation or pain on stooling scored worse on irritability, social withdrawal, stereotypy, and hyperactivity compared with children having no frequent GI symptoms. Frequent GI problems affect young children with ASD and DD more commonly than those with TD. Maladaptive behaviors correlate with GI problems, suggesting these comorbidities require attention.     

Familiar Face Recognition in Children with Autism: The Differential use of Inner and Outer Face Parts

We investigated whether children with autistic spectrum disorders (ASD) have a deficit in recognising familiar faces. Children with ASD were given a forced choice familiar face recognition task with three conditions: full faces, inner face parts and outer face parts. Control groups were children with developmental delay (DD) and typically developing (TD) children. Children with ASD and children with DD recognised slightly fewer faces than did TD children, but there was no ASD-specific deficit. All groups displayed the same pattern of face part superiority: full-face superiority over inner face, and inner face superiority over outer face. Therefore, the pattern of familiar face recognition by children with ASD was similar to the pattern found in other children.     

Corpus Callosum Morphometrics in Young Children with Autism Spectrum Disorder

This study assessed midsagittal corpus callosum cross sectional areas in 3–4 year olds with autism spectrum disorder (ASD) compared to typically developing (TD) and developmentally delayed (DD) children. Though not different in absolute size compared to TD, ASD callosums were disproportionately small adjusted for increased ASD cerebral volume. ASD clinical subgroup analysis revealed greater proportional callosum reduction in the more severely affected autistic disorder (AD) than in pervasive developmental disorder-not otherwise specified (PDD-NOS) children. DD children had smaller absolute callosums than ASD and TD. Subregion analysis revealed widely distributed callosum differences between ASD and TD children. Results could reflect decreased inter-hemispheric connectivity or cerebral enlargement due to increase in tissues less represented in the corpus callosum in ASD.     

Increased Sensory Processing Atypicalities in Parents of Multiplex ASD Families Versus Typically Developing and Simplex ASD Families

Recent studies have suggested that sensory processing atypicalities may share genetic influences with autism spectrum disorder (ASD). To further investigate this, the adolescent/adult sensory profile (AASP) questionnaire was distributed to 85 parents of typically developing children (P-TD), 121 parents from simplex ASD families (SPX), and 54 parents from multiplex ASD families (MPX). After controlling for gender and presence of mental disorders, results showed that MPX parents significantly differed from P-TD parents in all four subscales of the AASP. Differences between SPX and MPX parents reached significance in the Sensory Sensitivity subscale and also in subsequent modality-specific analyses in the auditory and visual domains. Our finding that parents with high genetic liability for ASD (i.e., MPX) had more sensory processing atypicalities than parents with low (i.e., SPX) or no (i.e., P-TD) ASD genetic liability suggests that sensory processing atypicalities may contribute to the genetic susceptibility for ASD.     

Differentiating between Autism Spectrum Disorders and Other Developmental Disabilities in Children Who Failed a Screening Instrument for ASD

This study compared behavioral presentation of toddlers with autistic spectrum disorders (ASD) and toddlers with global developmental delay (DD) or developmental language disorder (DLD) who display some characteristics of ASD using the diagnostic algorithm items from the Autism Diagnostic Observation Schedule, Generic (ADOS), the Childhood Autism Rating Scale (CARS), and Modified Checklist for Autism in Toddlers (M-CHAT). To date, 195 children have failed the M-CHAT and have been diagnosed with ASD, DD or DLD. Children with ASD had prominent and consistent impairments in socialization skills, especially joint attention skills and were more impaired in some aspects of communication, play, and sensory processing. Children with ASD and children with DD/DLD shared common features, but certain behavioral markers differentiated the two groups.     

Bone Mass in Boys with Autism Spectrum Disorder

To examine bone mass in children and adolescents with autism spectrum disorders (ASD). Risperidone-treated 5 to 17 year-old males underwent anthropometric and bone measurements, using dual-energy X-ray absorptiometry and peripheral quantitative computed tomography. Multivariable linear regression analysis models examined whether skeletal outcomes differed among participants with (n?=?30) versus without ASD (n?=?156). After adjusting for potential covariates, having ASD was associated with significantly lower trabecular bone mineral density and bone strength at the radius, and with marginally lower total body less head bone mineral content (p?<?0.09). No differences at the lumbar spine were observed. ASD are associated with lower bone mass. Future studies should investigate interventions to optimize skeletal health in ASD.     

Autism Spectrum Traits in Children with Anxiety Disorders

The aim of this study was to examine ASD traits in children with clinical anxiety in early development, as well as current manifestations. Parents of 42 children with an anxiety disorder (but no known diagnosis of ASD) and 42 typically developing children were interviewed using the Autism Diagnostic Interview (ADI-R). They also completed questionnaires that assessed child anxiety (SCARED-71) and children’s ASD symptoms. Results revealed that children with anxiety disorders had higher scores than typically developing children, for both ASD traits in early development as well as current ASD symptoms. A specific association was found between symptoms of Social Anxiety Disorder and ASD traits early in life. Findings are considered in terms of clinical implications, and limitations are discussed.     

Reduced social preferences in autism: evidence from charitable donations

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.     

Self-reported Pleasantness Ratings and Examiner-Coded Defensiveness in Response to Touch in Children with ASD: Effects of Stimulus Material and Bodily Location

Tactile defensiveness, characterized by behavioral hyperresponsiveness and negative emotional responses to touch, is a common manifestation of aberrant sensory processing in autism spectrum disorders (ASD) and other developmental disabilities (DD). Variations in tactile defensiveness with the properties of the stimulus and the bodily site of stimulation have been addressed in adults with self-report of perceived tactile pleasantness, but not in children. We presented three materials (pleasant, unpleasant, social) at three bodily sites and measured both examiner-coded defensiveness and self-reported pleasantness from a group of children with ASD and two comparison groups (one with DD, one with typical development (TD)). The main findings were: (1) children with ASD and DD showed significantly more defensiveness reactions and lower pleasantness ratings than the TD group, with higher variability, (2) there was a double dissociation for the effects of material and bodily site of stimulation: while bodily site predicted behavioral defensiveness, material predicted pleasantness rating. Additionally, it was noted that (3) the most pleasant material and the social touch conditions best distinguished ASD and DD from TD on defensiveness, and (4) within the ASD group, social impairment and defensiveness in bodily sites associated with social touch were positively correlated, suggesting a clinically relevant distinction between social and discriminative touch in ASD.     

Association between pupillary light reflex and sensory behaviors in children with autism spectrum disorders

Atypical pupillary light reflexes (PLR) has been observed in children with autism spectrum disorders (ASD), which suggests potential autonomic nervous system (ANS) dysfunction in ASD. ANS is also involved in modulating sensory processing and sensory dysfunction has been widely reported in children with ASD. However, the potential association between physiological measurements of PLR and behavioral observations (e.g. sensory behaviors) has not been examined extensively in literature. In this study, we investigated the potential correlation between PLR and frequently observed sensory behaviors in children with ASD. We found a significant association between PLR constriction amplitude and a set of sensory behaviors in the ASD group but not in typically developing children. Children with ASD who showed more atypical sensory behaviors also had smaller PLR constriction amplitudes. A smaller PLR constriction amplitude suggests lower parasympathetic modulation. This observation implies that some atypical sensory behaviors in children with ASD could be associated with decreased parasympathetic modulation.