Identification of Symptoms of Autism Spectrum Disorders in the Second Year of Life at Day-Care Centres by Day-Care Staff: Step One in the Development of a Short Observation List

Early symptoms of ASD develop through the second year of life, making a stable ASD diagnosis possible at 24 months of age. However, in general, children with ASD have their diagnosis at an older age. This retrospective study, including 30 children with ASD and 30 control children aged 3–6 years, explored the possibility of developing a short observation list to be used in day care settings for children 12–24 months of age. From 73 symptoms selected from published screeners and observation tools, we were able to construct a list of six symptoms that retrospectively differentiated children with ASD from typically developing children at 12–24 months of age when recalled by day-care personnel.     

Narrowly Versus Broadly Defined Autism Spectrum Disorders: Differences in Pre- and Perinatal Risk Factors

This study examined the differential contribution of pre- and perinatal risks in narrowly versus broadly defined autism spectrum disorder (ASD) and across core symptom domains, IQ and co-morbid problems. Children with a DSM-IV diagnosis of autistic disorder (AD) (n = 121) or pervasive developmental disorder not otherwise specified (PDD-NOS) (n = 75) were compared to a typical control sample (n = 311). Diagnoses were based on extensive assessments between 12 and 49 months of age (M = 33.3, SD = 6.4) and re-evaluated at 43–98 months (M = 68.1, SD = 10.7) in 70 % of the cases. Compared with controls, cases with ASD were more likely to be firstborn and show a suboptimal condition after birth. Case mothers reported more infections and more stress during pregnancy. Although the ASD subgroups showed mostly overlapping risks, cases with PDD-NOS differed from those with AD by higher exposure to smoking during pregnancy (SDP) and by a negative association of smoking with IQ, regardless of confounders. SDP appears to contribute more to broadly defined (PDD-NOS) than to narrowly defined ASD (AD). Findings suggest differences in etiological contributors between ASD phenotypes.     

Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder

Background

A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajectories of fine motor skills between 6 and 24 months in relation to expressive language outcomes at 36 months in infants at high and low familial risk for autism spectrum disorder (ASD).

Methods

Participants included 71 high-risk infants without ASD diagnoses, 30 high-risk infants later diagnosed with ASD, and 69 low-risk infants without ASD diagnoses. As part of a prospective, longitudinal study, fine motor skills were assessed at 6, 12, 18, and 24 months of age and expressive language outcomes at 36 months using the Mullen Scales of Early Learning. Diagnosis of ASD was determined at the infant’s last visit to the lab (18, 24, or 36 months) using the Autism Diagnostic Observation Schedule.

Results

Hierarchical linear modeling revealed that high-risk infants who later developed ASD showed significantly slower growth in fine motor skills between 6 and 24 months, compared to their typically developing peers. In contrast to group differences in growth from age 6 months, cross-sectional group differences emerged only in the second year of life. Also, fine motor skills at 6 months predicted expressive language outcomes at 3 years of age.

Conclusions

These results highlight the importance of utilizing longitudinal approaches in measuring early fine motor skills to reveal subtle group differences in infancy between ASD high-risk and low-risk infant populations and to predict their subsequent language outcomes.

     

Developmental Changes in Empathic Concern and Self-Understanding in Toddlers at Genetic Risk for Autism Spectrum Disorder

Toddlers with an older sibling with autism spectrum disorder (ASD) and low risk (LR) toddlers were observed at 22, 28, and 34 months during two empathy probes: a crying baby and an adult who pretended to hurt her finger. Toddlers with a later ASD diagnosis showed less empathic concern and self-distress at each age on both empathy probes than LR toddlers. HR toddlers with no diagnosis showed growth in empathic concern between 22 and 34 months in response to the adult’s pain, differing from the children with ASD, but not the LR children, by 34 months. Developmental changes in parent-rated self-understanding showed a similar pattern. Results highlight individual differences in the social development of HR toddlers.     

Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56 % met DSM-5 ASD criteria. A further 19 % met DSM-5 (draft) criteria for Social Communication Disorder. Of those diagnosed with Autistic Disorder/Asperger Syndrome on DSM-IV-TR, 78 % met DSM-5 ASD criteria. Sensitivity of DSM-5 was significantly increased by reducing the number of criteria required for a DSM-5 diagnosis, or by rating ‘uncertain’ criteria as ‘present’, without sacrificing specificity. Reduced rates of ASD diagnosis may mean some ASD individuals will be unable to access clinical services.     

Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD

Acquiring useful language by age 5 has been identified as a strong predictor of positive outcomes in individuals with Autism Spectrum Disorders (ASD). This study examined the relationship between age of language acquisition and later functioning in children with ASD (n = 119). First word acquisition at a range of ages was probed for its relationship to cognitive ability and adaptive behaviors at 52 months. Results indicated that although producing first words predicted better outcome at every age examined, producing first words by 24 months was a particularly strong predictor of better outcomes. This finding suggests that the historic criterion for positive prognosis (i.e., “useful language by age 5”) can be updated to a more specific criterion with an earlier developmental time point.     

Impaired disengagement of attention and its relationship to emotional distress in infants at high-risk for autism spectrum disorder

Introduction: We provide data on visual orienting and emotional distress in infants at high and low risk for autism spectrum disorder (ASD). Method: Participants included 83 high-risk (HR) infants with an older sibling with ASD and 53 low-risk (LR) control infants with no family history of ASD. Infants were assessed on the gap-overlap task and a parent-completed temperament questionnaire at 6 and 12 months of age. At 36 months of age, an independent, gold standard diagnostic assessment for ASD was conducted. Results: HR infants subsequently diagnosed with ASD were distinguished at 12 months by an asymmetric disengage impairment (for left- vs. right-sided stimuli) that was associated with an increase in latencies between 6 and 12 months. Across groups, prolonged left-directed disengage latencies at 12 months were associated with emotional distress (high irritability and difficult to soothe). Conclusions: The asymmetry in our findings raises the question of whether the disengage problem in ASD is at base one of orienting or alerting attention. Our findings also raise the question of whether attention training might be a critical ingredient in the early treatment of ASD.     

Potential Risk Factors for the Development of Self-Injurious Behavior among Infants at Risk for Autism Spectrum Disorder

Prevalence of self-injurious behavior (SIB) is as high as 50% among children with autism spectrum disorder (ASD). Identification of risk factors for the development of SIB is critical to early intervention and prevention. However, there is little empirical research utilizing a prospective design to identify early risk factors for SIB. The purpose of this study was to evaluate behavioral characteristics predicting SIB at age 2 years among 235 infants at high familial risk for ASD. Logistic regression results indicated that presence of SIB or proto-SIB and lower developmental functioning at age 12 months significantly predicted SIB at 24 months. A pattern of persistent SIB over this period was associated with a diagnosis of autism and poorer cognitive and adaptive outcomes.     

Brief Report: Sex Differences in Parental Concerns for Toddlers with Autism Risk

Research on sex differences in autism spectrum disorder (ASD) suggests both higher prevalence and a more easily observable presentation of core ASD symptomology in males, which may lead to sex differences in parental concerns. The current study examined whether sex and diagnosis relate to the timing, number, and types of pre-diagnosis concerns for 669 (N_male = 468) toddlers who screened at risk for ASD. No sex differences in parents’ concerns emerged for toddlers diagnosed with ASD; however, in the overall at-risk sample, parents of boys endorsed ASD symptoms, including restricted and repetitive behaviors, more than parents of girls. Future research should examine why sex differences in pre-diagnosis concerns emerge and how they might impact early diagnosis for at-risk boys versus girls.     

Minor physical anomalies in neurodevelopmental disorders: a twin study

Background

Minor physical anomalies (MPAs) are subtle anatomical deviations in one’s appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still, further studies are needed on MPAs in NDDs, especially using twins to adjust for confounding familial factors.

Methods

Clinical assessments were conducted on 116 twins (61 NDD, 55 controls) from 51 monozygotic and 7 dizygotic pairs to examine MPAs and their association with DSM-5 defined NDDs. Additionally, the relationship between the number of MPAs within twins by zygosity was investigated.

Results

Within the cohort sample, a specific association was found between MPAs and autism spectrum disorder (ASD) diagnosis (crude odds ratio = 1.29, p = .047; adjusted odds ratios = 1.26–1.33, adjusted p values = .032–.073) and autistic traits (crude β = 3.02, p = .002; adjusted β = 2.28, p = .019), but not NDDs in general or ADHD, nor within-pairs. Identified MPAs in ASD included overweight, hypermobility, pes planus, straight eyebrows, vision impairment, arachnodactyly/long toes, long eyelashes, and microtia. The number of MPAs within all monozygotic pairs was highly correlated (r = .88, p < .001).

Conclusion

MPAs are more frequent in participants with ASD and may be influenced by genetics. The value of MPAs for (early) detection should be further explored, as they might index individuals at increased risk for ASD in particular.

     

Autism in Southeast Europe: A Survey of Caregivers of Children with Autism Spectrum Disorders

The aim of this study was to understand the diagnostic, service and lived experiences of families affected by ASD in Southeast Europe. A total of 758 caregivers from Albania, Bulgaria, Croatia and Turkey were surveyed from 2013 to 2015 about characteristics of the child with ASD; service encounters; and caregiver perceptions. The average age at first concern was 24.4 months (SD 11.8) and at diagnosis, 40.0 months (SD 19.0). Psychiatrists were the most common diagnostician; most children received some ASD-related service, most frequently speech and language therapy. Caregivers endorsed challenges in access to care and perceived stigma. Despite country differences, findings relative to age at first concern, disparities in access and service utilization, and stigma speak to common regional needs.     

Autism Spectrum Disorders in Gender Dysphoric Children and Adolescents

Only case reports have described the co-occurrence of gender identity disorder (GID) and autism spectrum disorders (ASD). This study examined this co-occurrence using a systematic approach. Children and adolescents (115 boys and 89 girls, mean age 10.8, SD = 3.58) referred to a gender identity clinic received a standardized assessment during which a GID diagnosis was made and ASD suspected cases were identified. The Dutch version of the Diagnostic Interview for Social and Communication Disorders (10th rev., DISCO-10) was administered to ascertain ASD classifications. The incidence of ASD in this sample of children and adolescents was 7.8% (n = 16). Clinicians should be aware of co-occurring ASD and GID and the challenges it generates in clinical management.     

The Impact of Intellectual Disability and Autism Spectrum Disorder on Restraint and Seclusion in Pre-Adolescent Psychiatric Inpatients

ABSTRACT

Introduction: Features of intellectual disability (ID) and/or autism spectrum disorder (ASD) may hinder responsiveness to interventions typically used during psychiatric hospitalization to manage severely disruptive behavior, and could increase the likelihood of experiencing restraint and/or seclusion (R/S). This study investigated the occurrence of R/S in psychiatrically hospitalized children rated by their treatment team as having ID and/or ASD and those who were rated as having neither.

Methods: Pre-adolescents (N = 777; M = 9.71; SD = 2.71; Range 5–12) consecutively admitted to an acute psychiatric hospital during a one-year period were assigned a consensus DSM-5 diagnosis of ID (n = 295), ASD (n = 48), Both (n = 77), or Neither (n = 361). R/S occurrences were recorded in terms of their frequency and duration.

Results:52% of patients experienced at least one R/S while hospitalized. The modal number of R/S events for this sample was 0, and for children who experienced any R/S, the mode was 2. Comparisons (ID, ASD, Both, Neither) showed statistically significant differences (p <.001) in R/S events. Children rated as meeting diagnostic criteria for ID (68%; M = 13.9), or Both ID and ASD (78%; M = 18.2), had elevated rates of R/S events compared to cases with Neither diagnosis (35%; M = 7.3). ASD alone (50%; M = 10.0) was not associated with an increase in R/S compared to cases with Neither diagnosis. Data on the duration of these events completely paralleled the frequency results.

Conclusion: Children who met DSM-5 criteria for ID had a greater risk of experiencing R/S during psychiatric hospitalization. To reduce the occurrence of R/S, interventions must be refined and staff specially trained to address the complexities of treating children with ID.     

Postnatal outcome of isolated, nonprogressive, mild borderline fetal ventriculomegaly

Background

This study aimed to evaluate postnatal outcome of fetuses affected by nonprogressive, isolated, mild (≥10 and ≤12 mm) borderline ventriculomegaly (BVM).

Methods

We studied 25 consecutive fetuses with BMV and evaluated patients' characteristic, ultrasonographic findings, and the neurodevelopmental outcome at age ≥24 months.

Results

The mean gestational age at diagnosis was 23.84?±?5.02 weeks (min–max; 17–34 weeks). In 16 cases, BVM was bilateral (16/25, 64 %), 4 left sided (4/25, 16 %), and 5 right sided (5/25, 20 %). Fourteen cases were males (14/25, 56 %), and 11 cases were females (11/25, 44 %). In two cases, ventriculomegaly was regressed 4 weeks after the initial diagnosis (2/25, 8 %), and in the remaining cases, ventriculomegaly persisted between initial measurement and 12 mm. The mean age of the infant at the time of the neurodevelopmental evaluation was 45.9 months (24–77 months). The neurodevelopmental outcome at the mean age of 45.9 months was completely normal in 16 infants (16/25, 64 %). The remaining nine infants (9/25, 36 %) had mild degree of neuromotor developmental delay.

Conclusion

Prenatal counseling for isolated, nonprogressive, mild BVM should be mainly reassurance since it is not associated with severe neurodevelopmental delay. However, parents should be educated about the developmental milestone of children to observe and detect mild neurodevelopmental delay which can be associated with mild BVM.     

Inter-rater reliability and stability of diagnoses of autism spectrum disorder in children identified through screening at a very young age

To examine the inter-rater reliability and stability of autism spectrum disorder (ASD) diagnoses made at a very early age in children identified through a screening procedure around 14 months of age. In a prospective design, preschoolers were recruited from a screening study for ASD. The inter-rater reliability of the diagnosis of ASD was measured through an independent assessment of a randomly selected subsample of 38 patients by two other psychiatrists. The diagnoses at 23 months and 42 months of 131 patients, based on the clinical assessment and the diagnostic classifications of standardised instruments, were compared to evaluate stability of the diagnosis of ASD. Inter-rater reliability on a diagnosis of ASD versus non-ASD at 23 months was 87% with a weighted κ of 0.74 (SE 0.11). The stability of the different diagnoses in the autism spectrum was 63% for autistic disorder, 54% for pervasive developmental disorder, not otherwise specified (PDD-NOS), and 91% for the whole category of ASD. Most diagnostic changes at 42 months were within the autism spectrum from autistic disorder to PDD-NOS and were mainly due to diminished symptom severity. Children who moved outside the ASD category at 42 months made significantly larger gains in cognitive and language skills than children with a stable ASD diagnosis. In conclusion, the inter-rater reliability and stability of the diagnoses of ASD established at 23 months in this population-based sample of very young children are good.     

Using the Childhood Autism Rating Scale to Diagnose Autism Spectrum Disorders

This study investigated the childhood autism rating scale (CARS) as a tool for ASD diagnoses for 2-year-old (n = 376) and 4-year-old (n = 230) children referred for possible autism. The cut-off score to distinguish autistic disorder from PDD-NOS was 32 in the 2-year-old sample (consistent with Lord in J Child Psychol Psychiatry Allied Discipl, 36, 1365–1382, 1995), and 30 in the 4-year-old sample, with good sensitivity and specificity at both ages. The cut-off score to distinguish ASD from non-ASD at both ages was 25.5, with good sensitivity and specificity. Results confirm the utility of the CARS in distinguishing autistic disorder from PDD-NOS, and distinguishing ASD from other developmental disorders and typical development and suggest that an ASD cutoff around 25, which is in common clinical use, is valid.     

Brief Report: Accuracy and Response Time for the Recognition of Facial Emotions in a Large Sample of Children with Autism Spectrum Disorders

The empirical literature has presented inconsistent evidence for deficits in the recognition of basic emotion expressions in children with autism spectrum disorders (ASD), which may be due to the focus on research with relatively small sample sizes. Additionally, it is proposed that although children with ASD may correctly identify emotion expression they rely on more deliberate, more time-consuming strategies in order to accurately recognize emotion expressions when compared to typically developing children. In the current study, we examine both emotion recognition accuracy and response time in a large sample of children, and explore the moderating influence of verbal ability on these findings. The sample consisted of 86 children with ASD (M _age = 10.65) and 114 typically developing children (M _age = 10.32) between 7 and 13 years of age. All children completed a pre-test (emotion word–word matching), and test phase consisting of basic emotion recognition, whereby they were required to match a target emotion expression to the correct emotion word; accuracy and response time were recorded. Verbal IQ was controlled for in the analyses. We found no evidence of a systematic deficit in emotion recognition accuracy or response time for children with ASD, controlling for verbal ability. However, when controlling for children’s accuracy in word–word matching, children with ASD had significantly lower emotion recognition accuracy when compared to typically developing children. The findings suggest that the social impairments observed in children with ASD are not the result of marked deficits in basic emotion recognition accuracy or longer response times. However, children with ASD may be relying on other perceptual skills (such as advanced word–word matching) to complete emotion recognition tasks at a similar level as typically developing children.     

Brief Report: Episodic Foresight in Autism Spectrum Disorder

Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in ASD. Twenty-five children with ASD (M = 5 years, 10 months; 22 male) and 25 mental-age-matched typically developing children (M = 4 years, 10 months; 22 male) completed a series of EpF, ToM, and EF tasks. Significant group differences were detected on several EpF tasks suggesting that children with ASD show impairments in thinking about their future selves.     

Early Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder

This study examined longitudinal growth in gestures and words in infants at heightened (HR) versus low risk (LR) for ASD. The MacArthur-Bates Communicative Development Inventory was administered monthly from 8 to 14 months and at 18 and 24 months to caregivers of 14 HR infants diagnosed with ASD (HR-ASD), 27 HR infants with language delay (HR-LD), 51 HR infants with no diagnosis (HR-ND), and 28 LR infants. Few differences were obtained between LR and HR-ND infants, but HR-LD and HR-ASD groups differed in initial skill levels and growth patterns. While HR-LD infants grew at rates comparable to LR and HR-ND infants, growth was attenuated in the HR-ASD group, with trajectories progressively diverging from all other groups.     

How ‘core’ are motor timing difficulties in ADHD? A latent class comparison of pure and comorbid ADHD classes

Children with attention-deficit/hyperactivity disorder (ADHD) have motor timing difficulties. This study examined whether affected motor timing accuracy and variability are specific for ADHD, or that comorbidity with autism spectrum disorders (ASD) contributes to these motor timing difficulties. An 80-trial motor timing task measuring accuracy (μ), variability (σ) and infrequent long response times (τ) in estimating a 1-s interval was administered to 283 children and adolescents (8–17 years) from both a clinic and population based sample. They were divided into four latent classes based on the SCQ and CPRS-R:L data. These classes were: without behavioral problems ‘Normal-class’ (n = 154), with only ADHD symptoms ‘ADHD-class’ (n = 49), and two classes with both ASD and ADHD symptoms; ADHD(+ASD)-class (n = 39) and ASD(+ADHD)-class (n = 41). The pure ADHD-class did not deviate from the Normal class on any of the motor timing measures (mean RTs 916 and 925 ms, respectively). The comorbid ADHD(+ASD) and ASD(+ADHD) classes were significantly less accurate (more time underestimations) compared to the Normal class (mean RTs 847 and 870 ms, respectively). Variability in motor timing was reduced in the younger children in the ADHD(+ASD) class, which may reflect a tendency to rush the tedious task. Only patients with more severe behavioral symptoms show motor timing deficiencies. This cannot merely be explained by high ADHD severity with ASD playing no role, as ADHD symptom severity in the pure ADHD-class and the ASD(+ADHD) class was highly similar, with the former class showing no motor timing deficits.