Pre-publication scientific findings

These are findings reported to us by grantees at the end of their funding period.  These are too early for publication and have not been peer reviewed, but they wanted to share them with the community.  Remember, they are preliminary and are meant to show you progress with the science and shouldn’t be compared to those that have been seen and reviewed by other scientists.

Social Behaviors

Researchers studied reciprocal social behavior and eye-gaze at facial features (i.e., looking at the eyes or mouth) in children with William’s Syndrome (WS), autism spectrum disorder (ASD), and typical development (TD). Children with WS had less reciprocal social behavior than TD children, but more than children with ASD. Eye-tracking data revealed that younger children with WS (3 to 26 month old) had higher levels of looking at eyes than the TD children or children with ASD. Older WS children (2.5 and 3.5 years of age) showed increases in mouth looking, which coincides with the delayed timing of language development in this population (Malick et al. 2016).

Prenatal Brain Development and Risk Factors

Maternal inflammation during pregnancy affects placental function and can increase risk of neurodevelopmental disorders in the offspring. Serotonin (5-HT), a neurotransmitter, is synthesized in the placenta and delivered to the brain of the fetus, where it regulates critical neurodevelopmental processes. Researchers found that maternal inflammation mid-pregnancy increases 5-HT synthesis in the placenta and accumulation in the fetal forebrain, and observed simultaneous region-specific disruptions of neurogenesis (growth of neural cells and tissue) and 5-HT axonal outgrowth. Results indicate that the placenta may play an important role in fetal brain development and origins of mental disorders (Goeden et al. 2016).

Language Development and Testing Measures

In a study analyzing speech production of toddlers who later go on to receive an ASD diagnosis, researchers used resonance frequencies, which indicate tongue position within the mouth during vowel production. Toddlers with ASD had a higher tongue position during low back vowel sounds like that in the word “pot” and had a breathy or rough voice quality, while peers without ASD did not. Finally, some but not all toddlers with ASD showed under-articulation in consonants and differences in intonation, which can contribute to lower intelligibility (Chenausky et al. 2016).

In another project from U. Pennsylvania, researchers developed an automated algorithm to assess variations in language (e.g., word choice, pitch, rhythm, conversation) and found that word choice alone (e.g., using the word “holiday” vs. “vacation” to describe a summer trip) accurately classified samples from children with ASD 78% of the time and from TD children 100% of the time. Linguistic variations also correlated well with parent reports of social responsiveness and clinical observations of social-communication ability. Eventually, researchers hope to develop a linguistic screening accessible to families, regardless of income or location (Parish-Morris et al. 2016).

Finally, children with ASD have unusual patterns of vocalization, including growls, squeals, or vocal stereotypies, which are either not seen in typical development or disappear at an early age. Researchers developed voice quality measures to analyze such speech patterns, and have found that such measures may serve as objective biomarkers for early detection of speech sound deficits in ASD (Ghai et al. 2016).

Genetic causes of autism spectrum disorders

Phelan-McDermid Syndrome (PMS) is a genetic disorder characterized by hypotonia (low muscle tone), intellectual disability, delayed or absent speech, and ASD. Researchers examined overlap and differences in problem behavior phenotype between PMS and idiopathic ASD (i.e, ASD with an unknown cause) on the Aberrant Behavior Checklist (ABC), a symptom checklist that uses parent report to assess a child’s problem behaviors. Results from this study suggest that in terms of problem behavior as measured by parent report on the ABC, children with PMS do not differ from children with idiopathic ASD (Li et al. 2016).

Tests to measure anxiety

Researchers studying the ADIS/ARA, a semi-structured interview for assessing anxiety disorders in children with ASD, found that the ADIS/ASA provides consistent measurement of both traditional and ambiguous presentations of anxiety in children with ASD across different raters. Additionally, the ADIS/ARA shows adequate convergent (measures that should be related are related) and discriminant (measures that should not be related are not) validity with other testing measures. The ADIS/ASA is likely to be a helpful tool for systematically differentiating and assessing symptoms of anxiety in children with ASD as part of clinical research and practice (Kerns et al. 2016).