'Instruments are good at eliciting information; scores are very dangerous': The perspectives of clinical professionals regarding neurodevelopmental assessment.

LAY ABSTRACT: Autism and attention deficit hyperactivity disorder are common behaviourally diagnosed conditions. One of the key aspects of diagnosis is clinical judgement. Yet despite decades of research, it is only in recent times that researchers have started exploring clinicians' perspectives on diagnosing these conditions. We aimed to add to this body of knowledge by conducting interviews with 17 experienced health care professionals in the United Kingdom to hear their perspectives on diagnosing autism and attention deficit hyperactivity disorder. Clinicians reflected that for some children and young people, diagnosis is reasonably straightforward; however, in other situations, decisions are made on more pragmatic grounds (i.e. will this be helpful). We identified some differences of opinion between professionals and organisation which adds to the complexity of applying a diagnosis. We recommend several areas for future research and point to some practical and philosophical implications of the work.

Differentiating "Attachment Difficulties" From Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Qualitative Interviews With Experienced Health Care Professionals.

OBJECTIVES: "Attachment difficulties" is an umbrella term often used to describe various forms of non-secure attachment. Differentiating "attachment difficulties" from autism spectrum disorder (hereafter autism) and attention deficit hyperactivity disorder (ADHD) has been characterized as challenging. Few studies have explored how this happens in practice, from the perspective of professionals. DESIGN: Qualitative study. METHODS: We conducted in-depth semi-structured interviews with (n = 17) healthcare professionals from five NHS Foundation Trusts in the United Kingdom. Participants were recruited using a combination of snowballing, convenience and purposive sampling. Data were analyzed using a thematic approach. RESULTS: We identified six interrelated themes that might reflect difficulties with differential conceptualization. These include: a clinical lexicon of attachment; approaching attachment with caution; contextual factors; perceived characteristic behaviors; assessing attachment and adjacent supports; spotlighting intervention and dual conceptualization. CONCLUSION: Our results indicate some of the ways suspicions around attachment are raised in practice. We advocate for more dialogue between research and practice communities on issues of differential conceptualization. We call for collaboration between a panel of experts consisting of attachment and neurodevelopmental orientated practitioners and researchers, to clarify issues around differentiating between attachment difficulties, ASD, and ADHD.

Overcoming hurdles to intervention studies with autistic children with profound communication difficulties and their families.

LAY ABSTRACT: Autistic children who speak few or no words or who have an intellectual disability are the most in need of new understandings and treatments, but the most often left out of the research that can bring these benefits. Researchers perceive difficulties around compliance with instructions, testing, challenging behaviours and family stress. Although research with these children can indeed be difficult, their continuing exclusion is unethical and unacceptable. Drawing on our experiences testing a possible treatment for children with profound autism, we provide 10 practical guidelines related to (1) interacting physically, (2) combining play and testing, (3) responding to challenging behaviour, (4) finding suitable tests, (5) relationships with parents, (6) relationships with siblings, (7) involving stakeholders, (8) planning the testing times, (9) the role of the clinical supervisor and (10) recruiting and retaining participants. We hope that these guidelines will prepare and embolden other research teams to work with profoundly autistic children, ending their historical exclusion from research. These guidelines also could be useful for conducting research with children with intellectual disabilities.

Point OutWords: protocol for a feasibility randomised controlled trial of a motor skills intervention to promote communicative development in non-verbal children with autism.

BACKGROUND: Point OutWords is a caregiver-delivered, iPad-assisted intervention for non-verbal or minimally verbal children with autism. It aims to develop prerequisite skills for communication such as manual and oral motor skills, sequencing, and symbolic representation. This feasibility trial aims to determine the viability of evaluating the clinical efficacy of Point OutWords. METHODOLOGY: We aim to recruit 46 non-verbal or minimally verbal children with autism and their families, approximately 23 per arm. Children in the intervention group will use Point OutWords for half an hour, five times a week, for 8 weeks. Children in the control group will have equal caregiver-led contact time with the iPad using a selection of control apps (e.g. sensory apps, drawing apps). Communication, motor, and daily living skills are assessed at baseline and post-intervention. Parents will keep diaries during the intervention period and will take part in focus groups when the intervention is completed. DISCUSSION: Point OutWords was developed in collaboration with children with autism and their caregivers, to provide an intervention for a subgroup of autism that has been historically underserved. As autism is a heterogeneous condition, it is unlikely that one style of intervention will address all aspects of its symptomatology; the motor skills approach of Point OutWords can complement other therapies that address core autistic symptoms of social cognition and communication more directly. The current feasibility trial can inform the selection of outcome measures and design for future full-scale randomised controlled trials of Point OutWords and of other early interventions in autism. TRIAL REGISTRATION: ISRCTN, ISRCTN12808402. Prospectively registered on 12 March 2019.

Effects of Delay, Question Type, and Socioemotional Support on Episodic Memory Retrieval by Children with Autism Spectrum Disorder.

Twenty-seven autistic children and 32 typically developing (TD) peers were questioned about an experienced event after a two-week delay and again after a two-month delay, using the Revised National Institute of Child Health and Human Development (NICHD) Investigative Interview Protocol. Recall prompts elicited more detailed and more accurate responses from children than recognition prompts. Autistic children recalled fewer correct narrative details than TD peers when questioned using open invitations, cued invitations, and directive questions. Nonetheless, they were as accurate as TD peers when responding to all types of prompts. The informativeness and accuracy of children's reports remained unchanged over time. Social support was beneficial when children were interviewed for the first time but not after a longer delay.

New Interview and Observation Measures of the Broader Autism Phenotype: Description of Strategy and Reliability Findings for the Interview Measures.

Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and describe the development strategy and findings from the interviews. International Molecular Genetic Study of Autism Consortium data were collected from families containing at least two individuals with autism. Comparison of the informant and self-report interviews was restricted to samples in which the interviews were undertaken by different researchers from that site (251 UK informants, 119 from the Netherlands). Researchers produced vignettes that were rated blind by others. Retest reliability was assessed in 45 participants. Agreement between live scoring and vignette ratings was very high. Retest stability for the interviews was high. Factor analysis indicated a first factor comprising social-communication items and rigidity (but not other repetitive domain items), and a second factor comprised mainly of reading and spelling impairments. Whole scale Cronbach's alphas were high for both interviews. The correlation between interviews for factor 1 was moderate (adult items 0.50; childhood items 0.43); Kappa values for between-interview agreement on individual items were mainly low. The correlations between individual items and total score were moderate. The inclusion of several factor 2 items lowered the overall Cronbach's alpha for the total set. Both interview measures showed good reliability and substantial stability over time, but the findings were better for factor 1 than factor 2. We recommend factor 1 scores be used for characterising the BAP.

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.

OBJECTIVES: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres. METHODS: Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities. RESULTS: One hundred and eighty-one cases were diagnosed according to International Classification of Diseases - version 10 criteria as having an autism spectrum disorder (autistic-like Pervasive Developmental Disorder) and 40 cases as having other disorders. Twenty-one (11.6%) of the children with autism spectrum disorders had a possibly causal condition compared with six (15%) of the children with other diagnoses. One child with an autism spectrum disorder had a paternally inherited familial duplication of 15q11-13. The pattern of genotype-phenotype correlation within the family indicated that this form of abnormality might carry a risk for developmental difficulties, although the risk did not appear to be specific for autism spectrum disorders. CONCLUSION: The overall rate of possibly causal medical and cytogenetic conditions in children with autism spectrum disorders was low and no different from the rate of disorder in children with other developmental/neuropsychiatric disorders that attended the same clinics. Further research is required to determine whether paternal duplication of 15q11-13 gives rise to adverse developmental outcomes.

Auditory temporal-envelope processing in high-functioning children with Autism Spectrum Disorder.

Individuals with Autism Spectrum Disorder (ASD) perform worse than controls when listening to speech in a temporally modulated noise (Alcántara, Weisblatt, Moore, & Bolton, 2004; Groen et al., 2009). The current study examined whether this is due to poor auditory temporal-envelope processing. Temporal modulation transfer functions were measured in 6 high-functioning children with ASD and 6 control listeners, using sinusoidal amplitude modulation of a broadband noise. Modulation-depth thresholds at low modulation rates were significantly higher for the ASD group than for the Control group, and generally higher at all modulation rates tested. Low-pass filter model estimates of temporal-envelope resolution and temporal-processing efficiency showed significant differences between the groups for modulation-depth threshold values at low modulation rates. Intensity increment-detection thresholds, measured on a subset of individuals in the ASD and Control groups, were not significantly different. The results are consistent with ASD individuals having reduced processing efficiency of temporal modulations. Possible neural mechanisms that might underlie these findings are discussed.

Towards an understanding of the mechanisms of weak central coherence effects: experiments in visual configural learning and auditory perception.

The weak central coherence hypothesis of Frith is one of the most prominent theories concerning the abnormal performance of individuals with autism on tasks that involve local and global processing. Individuals with autism often outperform matched nonautistic individuals on tasks in which success depends upon processing of local features, and underperform on tasks that require global processing. We review those studies that have been unable to identify the locus of the mechanisms that may be responsible for weak central coherence effects and those that show that local processing is enhanced in autism but not at the expense of global processing. In the light of these studies, we propose that the mechanisms which can give rise to 'weak central coherence' effects may be perceptual. More specifically, we propose that perception operates to enhance the representation of individual perceptual features but that this does not impact adversely on representations that involve integration of features. This proposal was supported in the two experiments we report on configural and feature discrimination learning in high-functioning children with autism. We also examined processes of perception directly, in an auditory filtering task which measured the width of auditory filters in individuals with autism and found that the width of auditory filters in autism were abnormally broad. We consider the implications of these findings for perceptual theories of the mechanisms underpinning weak central coherence effects.

Speech-in-noise perception in high-functioning individuals with autism or Asperger's syndrome.

BACKGROUND: High-functioning individuals with autism (HFA) or Asperger's syndrome (AS) commonly report difficulties understanding speech in situations where there is background speech or noise. The objective of this study was threefold: (1) to verify the validity of these reports; (2) to quantify the difficulties experienced; and (3) to propose possible mechanisms to explain the perceptual deficits described. METHOD: Speech-in-noise perception abilities were measured using speech reception thresholds (SRTs), defined as the speech-to-noise ratio (SNR) at which approximately 50% of the speech is correctly identified. SRTs were measured for 11 individuals with HFA/AS and 9 age/IQ-matched normal-hearing control subjects, using an adaptive procedure, in a non-reverberant sound-attenuating chamber. The speech materials were standardised lists of everyday sentences spoken by a British male speaker. The background sounds were: (1) a single female talker; (2) a steady speech-shaped noise; (3) a speech-shaped noise with temporal dips; (4) a steady speech-shaped noise with regularly spaced spectral dips; and (5) a speech-shaped noise with temporal and spectral dips. RESULTS: SRTs for the HFA/AS group were generally higher (worse) than those for the controls, across the five background sounds. A statistically significant difference in SRTs between the subject groups was found only for those background sounds that contained temporal or spectro-temporal dips. SRTs for the HFA/AS individuals were 2 to 3.5 dB higher than for the controls, equivalent to a substantial decrease in speech recognition. Expressed another way, the HFA/AS individuals required a higher SNR, whenever there were temporal dips in the background sound, to perform at the same level as the controls. CONCLUSIONS: The results suggest that the speech-in-noise perception difficulties experienced by individuals with autism may be due, in part, to a reduced ability to integrate information from glimpses present in the temporal dips in the noise.